Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
ATM | 795 | COSM6986358, | soft_tissue | angiosarcoma | p.? | Unknown | 11:108343372-108343372, | PATHOGENIC | 0.99883 | 28481359 |
ATM | 795 | COSM4746032, | lung | carcinoma | p.? | Unknown | 11:108331558-108331558, | PATHOGENIC | 0.99848 | 28481359 |
ATM | 795 | COSM6967986, | biliary_tract | carcinoma | p.? | Unknown | 11:108244787-108244787, | PATHOGENIC | 0.99819 | 28481359 |
ATM | 795 | COSM5048544, | oesophagus | carcinoma | p.G2083A | Substitution - Missense | 11:108317422-108317422, | PATHOGENIC | 0.99801 | 24686850 |
ATM | 795 | COSM6931895, | central_nervous_system | glioma | p.G228S | Substitution - Missense | 11:108244807-108244807, | PATHOGENIC | 0.998 | 28481359 |
ATM | 795 | COSM6959469, | central_nervous_system | glioma | p.? | Unknown | 11:108244787-108244787, | PATHOGENIC | 0.9979 | 28481359 |
ATM | 795 | COSM6959469, | lung | carcinoma | p.? | Unknown | 11:108244787-108244787, | PATHOGENIC | 0.9979 | 28481359 |
ATM | 795 | COSM7325188, | biliary_tract | carcinoma | p.G2718S | Substitution - Missense | 11:108335845-108335845, | PATHOGENIC | 0.99789 | 29360550 |
ATM | 795 | COSM5575322, | ovary | carcinoma | p.? | Unknown | 11:108289601-108289601, | PATHOGENIC | 0.99786 | 25846551 |
ATM | 795 | COSM6982130, | pancreas | carcinoma | p.? | Unknown | 11:108284474-108284474, | PATHOGENIC | 0.99786 | 28481359 |
ATM | 795 | COSM1183949, | large_intestine | carcinoma | p.F1445C | Substitution - Missense | 11:108289699-108289699, | PATHOGENIC | 0.9978 | 24951259 |
ATM | 795 | COSM1235405, | breast | carcinoma | p.E2164Q | Substitution - Missense | 11:108321338-108321338, | PATHOGENIC | 0.99765 | 28481359 |
ATM | 795 | COSM1235405, | urinary_tract | carcinoma | p.E2164Q | Substitution - Missense | 11:108321338-108321338, | PATHOGENIC | 0.99765 | 28481359 |
ATM | 795 | COSM1235405, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E2164Q | Substitution - Missense | 11:108321338-108321338, | PATHOGENIC | 0.99765 | 23407552 |
ATM | 795 | COSM6983360, | urinary_tract | carcinoma | p.E158K | Substitution - Missense | 11:108235810-108235810, | PATHOGENIC | 0.9976 | 28481359 |
ATM | 795 | COSM309331, | lung | carcinoma | p.Q1331H | Substitution - Missense | 11:108284473-108284473, | PATHOGENIC | 0.9976 | 28481359 |
ATM | 795 | COSM309331, | lung | carcinoma | p.Q1331H | Substitution - Missense | 11:108284473-108284473, | PATHOGENIC | 0.9976 | 22941188 |
ATM | 795 | COSM6981685, | small_intestine | carcinoma | p.Y2521C | Substitution - Missense | 11:108331490-108331490, | PATHOGENIC | 0.99759 | 28481359 |
ATM | 795 | COSM1235447, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108365220-108365220, | PATHOGENIC | 0.99749 | 23407552 |
ATM | 795 | COSM1235442, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2448N | Substitution - Missense | 11:108330248-108330248, | PATHOGENIC | 0.99745 | 23407552 |
ATM | 795 | COSM1235442, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2448N | Substitution - Missense | 11:108330248-108330248, | PATHOGENIC | 0.99745 | 28481359 |
ATM | 795 | COSM1235442, | lung | carcinoma | p.D2448N | Substitution - Missense | 11:108330248-108330248, | PATHOGENIC | 0.99745 | 28481359 |
ATM | 795 | COSM297849, | urinary_tract | carcinoma | p.R2598Q | Substitution - Missense | 11:108332766-108332766, | PATHOGENIC | 0.99739 | 28481359 |
ATM | 795 | COSM1739727, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2448A | Substitution - Missense | 11:108330249-108330249, | PATHOGENIC | 0.99738 | 24682267 |
ATM | 795 | COSM6940400, | urinary_tract | carcinoma | p.E1959* | Substitution - Nonsense | 11:108310272-108310272, | PATHOGENIC | 0.99727 | 28481359 |
ATM | 795 | COSM1235400, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2448V | Substitution - Missense | 11:108330249-108330249, | PATHOGENIC | 0.99726 | 23407552 |
ATM | 795 | COSM1506626, | prostate | carcinoma | p.E2444K | Substitution - Missense | 11:108330236-108330236, | PATHOGENIC | 0.99725 | 28481359 |
ATM | 795 | COSM1506626, | small_intestine | carcinoma | p.E2444K | Substitution - Missense | 11:108330236-108330236, | PATHOGENIC | 0.99725 | 28481359 |
ATM | 795 | COSM6967203, | large_intestine | carcinoma | p.F2827C | Substitution - Missense | 11:108345804-108345804, | PATHOGENIC | 0.99724 | 28481359 |
ATM | 795 | COSM22475, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E2164K | Substitution - Missense | 11:108321338-108321338, | PATHOGENIC | 0.99721 | 9288106 |
ATM | 795 | COSM21637, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A2274T | Substitution - Missense | 11:108326070-108326070, | PATHOGENIC | 0.9972 | 10023947 |
ATM | 795 | COSM5047727, | oesophagus | carcinoma | p.E2272K | Substitution - Missense | 11:108326064-108326064, | PATHOGENIC | 0.9972 | 24686850 |
ATM | 795 | COSM6907412, | urinary_tract | carcinoma | p.D2448G | Substitution - Missense | 11:108330249-108330249, | PATHOGENIC | 0.99704 | 25225064 |
ATM | 795 | COSM6191555, | large_intestine | carcinoma | p.K2440E | Substitution - Missense | 11:108330224-108330224, | PATHOGENIC | 0.99681 | 25786087 |
ATM | 795 | COSM6191555, | thyroid | carcinoma | p.K2440E | Substitution - Missense | 11:108330224-108330224, | PATHOGENIC | 0.99681 | 28481359 |
ATM | 795 | COSM6949994, | urinary_tract | carcinoma | p.E2157Q | Substitution - Missense | 11:108321317-108321317, | PATHOGENIC | 0.9968 | 28481359 |
ATM | 795 | COSM24632, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q466* | Substitution - Nonsense | 11:108250861-108250861, | PATHOGENIC | 0.99671 | 12149228 |
ATM | 795 | COSM6942664, | breast | carcinoma | p.E2950Q | Substitution - Missense | 11:108354872-108354872, | PATHOGENIC | 0.99647 | 28481359 |
ATM | 795 | COSM6906874, | urinary_tract | carcinoma | p.? | Unknown | 11:108354810-108354810, | PATHOGENIC | 0.99646 | 29420467 |
ATM | 795 | COSM21938, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y1961C | Substitution - Missense | 11:108310279-108310279, | PATHOGENIC | 0.9964 | 16014569 |
ATM | 795 | COSM6936651, | breast | carcinoma | p.D1963G | Substitution - Missense | 11:108310285-108310285, | PATHOGENIC | 0.9964 | 28481359 |
ATM | 795 | COSM5022502, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E431* | Substitution - Nonsense | 11:108250756-108250756, | PATHOGENIC | 0.99625 | 25743686 |
ATM | 795 | COSM3724464, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108354810-108354810, | PATHOGENIC | 0.99623 | 24584352 |
ATM | 795 | COSM3733454, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2780H | Substitution - Missense | 11:108343292-108343292, | PATHOGENIC | 0.99613 | 24682267 |
ATM | 795 | COSM6980837, | endometrium | carcinoma | p.G2536* | Substitution - Nonsense | 11:108331534-108331534, | PATHOGENIC | 0.99605 | 28481359 |
ATM | 795 | COSM21648, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q163* | Substitution - Nonsense | 11:108235825-108235825, | PATHOGENIC | 0.99603 | 10706620 |
ATM | 795 | COSM3733364, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2447W | Substitution - Missense | 11:108330246-108330246, | PATHOGENIC | 0.99603 | 24682267 |
ATM | 795 | COSM5945792, | cervix | carcinoma | p.V2441G | Substitution - Missense | 11:108330228-108330228, | PATHOGENIC | 0.99575 | 27499905 |
ATM | 795 | COSM132863, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D479Y | Substitution - Missense | 11:108250900-108250900, | PATHOGENIC | 0.99562 | 21993670 |
ATM | 795 | COSM132863, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D479Y | Substitution - Missense | 11:108250900-108250900, | PATHOGENIC | 0.99562 | 21993670 |
ATM | 795 | COSM132863, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D479Y | Substitution - Missense | 11:108250900-108250900, | PATHOGENIC | 0.99562 | 21993670 |
ATM | 795 | COSM6931178, | urinary_tract | carcinoma | p.A2893P | Substitution - Missense | 11:108353771-108353771, | PATHOGENIC | 0.99559 | 28481359 |
ATM | 795 | COSM6973560, | urinary_tract | carcinoma | p.E2904Q | Substitution - Missense | 11:108353804-108353804, | PATHOGENIC | 0.99559 | 28481359 |
ATM | 795 | COSM6191480, | lung | carcinoma | p.E2950K | Substitution - Missense | 11:108354872-108354872, | PATHOGENIC | 0.99558 | 26645239 |
ATM | 795 | COSM6191480, | lung | carcinoma | p.E2950K | Substitution - Missense | 11:108354872-108354872, | PATHOGENIC | 0.99558 | 26645239 |
ATM | 795 | COSM6191480, | lung | carcinoma | p.E2950K | Substitution - Missense | 11:108354872-108354872, | PATHOGENIC | 0.99558 | 26645239 |
ATM | 795 | COSM6191480, | lung | carcinoma | p.E2950K | Substitution - Missense | 11:108354872-108354872, | PATHOGENIC | 0.99558 | 26645239 |
ATM | 795 | COSM6920549, | large_intestine | carcinoma | p.C2931Y | Substitution - Missense | 11:108354816-108354816, | PATHOGENIC | 0.99557 | 28481359 |
ATM | 795 | COSM1283556, | large_intestine | carcinoma | p.A2274V | Substitution - Missense | 11:108326071-108326071, | PATHOGENIC | 0.9954 | 28481359 |
ATM | 795 | COSM21930, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T2947S | Substitution - Missense | 11:108354863-108354863, | PATHOGENIC | 0.99539 | 16014569 |
ATM | 795 | COSM21930, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T2947S | Substitution - Missense | 11:108354863-108354863, | PATHOGENIC | 0.99539 | 16014569 |
ATM | 795 | COSM6965818, | lung | carcinoma | p.V2926F | Substitution - Missense | 11:108353870-108353870, | PATHOGENIC | 0.99533 | 28481359 |
ATM | 795 | COSM21633, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108353881-108353881, | PATHOGENIC | 0.99533 | 10397742 |
ATM | 795 | COSM22514, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2925V | Substitution - Missense | 11:108353868-108353868, | PATHOGENIC | 0.99533 | 16461462 |
ATM | 795 | COSM6911121, | thyroid | carcinoma | p.G2922V | Substitution - Missense | 11:108353859-108353859, | PATHOGENIC | 0.99533 | 28481359 |
ATM | 795 | COSM3733262, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T2947A | Substitution - Missense | 11:108354863-108354863, | PATHOGENIC | 0.99532 | 24682267 |
ATM | 795 | COSM758332, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A2524T | Substitution - Missense | 11:108331498-108331498, | PATHOGENIC | 0.99522 | 23091097 |
ATM | 795 | COSM6980697, | large_intestine | carcinoma | p.F30C | Substitution - Missense | 11:108227792-108227792, | PATHOGENIC | 0.99505 | 28481359 |
ATM | 795 | COSM2110359, | urinary_tract | carcinoma | p.R451H | Substitution - Missense | 11:108250817-108250817, | PATHOGENIC | 0.99498 | 28481359 |
ATM | 795 | COSM93916, | lung | carcinoma | p.V455M | Substitution - Missense | 11:108250828-108250828, | PATHOGENIC | 0.99498 | 20668451 |
ATM | 795 | COSM6506623, | stomach | carcinoma | p.L1956P | Substitution - Missense | 11:108310264-108310264, | PATHOGENIC | 0.99485 | 25656989 |
ATM | 795 | COSM6947139, | prostate | carcinoma | p.R2032T | Substitution - Missense | 11:108315911-108315911, | PATHOGENIC | 0.99465 | 28481359 |
ATM | 795 | COSM922740, | ovary | carcinoma | p.K2363N | Substitution - Missense | 11:108327758-108327758, | PATHOGENIC | 0.9946 | 25846551 |
ATM | 795 | COSM21883, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A3006P | Substitution - Missense | 11:108365353-108365353, | PATHOGENIC | 0.9946 | 9334731 |
ATM | 795 | COSM22515, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2925D | Substitution - Missense | 11:108353868-108353868, | PATHOGENIC | 0.99455 | 16461462 |
ATM | 795 | COSM1351047, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108353881-108353881, | PATHOGENIC | 0.99455 | 25480502 |
ATM | 795 | COSM6920297, | soft_tissue | leiomyosarcoma | p.E2895A | Substitution - Missense | 11:108353778-108353778, | PATHOGENIC | 0.99455 | 28481359 |
ATM | 795 | COSM3733399, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E2895K | Substitution - Missense | 11:108353777-108353777, | PATHOGENIC | 0.99449 | 24682267 |
ATM | 795 | COSM758347, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2891D | Substitution - Missense | 11:108353766-108353766, | PATHOGENIC | 0.99449 | 23091097 |
ATM | 795 | COSM758347, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2891D | Substitution - Missense | 11:108353766-108353766, | PATHOGENIC | 0.99449 | 29386642 |
ATM | 795 | COSM3733399, | urinary_tract | carcinoma | p.E2895K | Substitution - Missense | 11:108353777-108353777, | PATHOGENIC | 0.99449 | 28481359 |
ATM | 795 | COSM758347, | lung | carcinoma | p.G2891D | Substitution - Missense | 11:108353766-108353766, | PATHOGENIC | 0.99449 | 28481359 |
ATM | 795 | COSM758347, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2891D | Substitution - Missense | 11:108353766-108353766, | PATHOGENIC | 0.99449 | 29386642 |
ATM | 795 | COSM758347, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2891D | Substitution - Missense | 11:108353766-108353766, | PATHOGENIC | 0.99449 | 25480502 |
ATM | 795 | COSM4767437, | biliary_tract | carcinoma | p.G1679A | Substitution - Missense | 11:108299744-108299744, | PATHOGENIC | 0.99436 | 24997986 |
ATM | 795 | COSM6910356, | upper_aerodigestive_tract | carcinoma | p.D2597H | Substitution - Missense | 11:108332762-108332762, | PATHOGENIC | 0.99434 | 28481359 |
ATM | 795 | COSM6975033, | lung | carcinoma | p.W2960L | Substitution - Missense | 11:108365110-108365110, | PATHOGENIC | 0.99429 | 28481359 |
ATM | 795 | COSM1235403, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W2960C | Substitution - Missense | 11:108365111-108365111, | PATHOGENIC | 0.99429 | 23407552 |
ATM | 795 | COSM6932443, | urinary_tract | carcinoma | p.E2295* | Substitution - Nonsense | 11:108326133-108326133, | PATHOGENIC | 0.99428 | 28481359 |
ATM | 795 | COSM356707, | lung | carcinoma | p.R3008L | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99412 | 28481359 |
ATM | 795 | COSM6954390, | large_intestine | carcinoma | p.T2934N | Substitution - Missense | 11:108354825-108354825, | PATHOGENIC | 0.9941 | 28481359 |
ATM | 795 | COSM6196830, | breast | carcinoma | p.T2947N | Substitution - Missense | 11:108354864-108354864, | PATHOGENIC | 0.9941 | 28481359 |
ATM | 795 | COSM6196830, | large_intestine | carcinoma | p.T2947N | Substitution - Missense | 11:108354864-108354864, | PATHOGENIC | 0.9941 | 27756406 |
ATM | 795 | COSM215449, | skin | malignant_melanoma | p.V2951F | Substitution - Missense | 11:108365082-108365082, | PATHOGENIC | 0.99407 | 28481359 |
ATM | 795 | COSM21629, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A2420P | Substitution - Missense | 11:108329189-108329189, | PATHOGENIC | 0.99403 | 10397742 |
ATM | 795 | COSM6950365, | lung | carcinoma | p.? | Unknown | 11:108284226-108284226, | PATHOGENIC | 0.99377 | 28481359 |
ATM | 795 | COSM370728, | lung | carcinoma | p.W57L | Substitution - Missense | 11:108227873-108227873, | PATHOGENIC | 0.99374 | 28481359 |
ATM | 795 | COSM7325128, | biliary_tract | carcinoma | p.W1279S | Substitution - Missense | 11:108284316-108284316, | PATHOGENIC | 0.99372 | 29360550 |
ATM | 795 | COSM6953272, | urinary_tract | carcinoma | p.W2109* | Substitution - Nonsense | 11:108317500-108317500, | PATHOGENIC | 0.9937 | 28481359 |
ATM | 795 | COSM6971254, | stomach | carcinoma | p.A2103T | Substitution - Missense | 11:108317481-108317481, | PATHOGENIC | 0.9937 | 28481359 |
ATM | 795 | COSM6908734, | endometrium | carcinoma | p.? | Unknown | 11:108287717-108287717, | PATHOGENIC | 0.99368 | 28481359 |
ATM | 795 | COSM6955731, | pancreas | carcinoma | p.E2139* | Substitution - Nonsense | 11:108320021-108320021, | PATHOGENIC | 0.99363 | 28481359 |
ATM | 795 | COSM6955731, | large_intestine | carcinoma | p.E2139* | Substitution - Nonsense | 11:108320021-108320021, | PATHOGENIC | 0.99363 | 28481359 |
ATM | 795 | COSM6911055, | breast | carcinoma | p.E2097K | Substitution - Missense | 11:108317463-108317463, | PATHOGENIC | 0.99362 | 28481359 |
ATM | 795 | COSM6911055, | breast | carcinoma | p.E2097K | Substitution - Missense | 11:108317463-108317463, | PATHOGENIC | 0.99362 | 28481359 |
ATM | 795 | COSM6941790, | kidney | carcinoma | p.W2491C | Substitution - Missense | 11:108330379-108330379, | PATHOGENIC | 0.99358 | 28481359 |
ATM | 795 | COSM3935309, | breast | carcinoma | p.D2395N | Substitution - Missense | 11:108329114-108329114, | PATHOGENIC | 0.99354 | 28481359 |
ATM | 795 | COSM3935309, | ovary | carcinoma | p.D2395N | Substitution - Missense | 11:108329114-108329114, | PATHOGENIC | 0.99354 | 25846551 |
ATM | 795 | COSM6928095, | thyroid | carcinoma | p.D2725H | Substitution - Missense | 11:108335866-108335866, | PATHOGENIC | 0.99352 | 28481359 |
ATM | 795 | COSM6928095, | biliary_tract | carcinoma | p.D2725H | Substitution - Missense | 11:108335866-108335866, | PATHOGENIC | 0.99352 | 28481359 |
ATM | 795 | COSM6932534, | breast | carcinoma | p.E322K | Substitution - Missense | 11:108247026-108247026, | PATHOGENIC | 0.99351 | 28481359 |
ATM | 795 | COSM236699, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.H2125R | Substitution - Missense | 11:108319980-108319980, | PATHOGENIC | 0.99344 | 23407552 |
ATM | 795 | COSM236699, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.H2125R | Substitution - Missense | 11:108319980-108319980, | PATHOGENIC | 0.99344 | 22210878 |
ATM | 795 | COSM236699, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.H2125R | Substitution - Missense | 11:108319980-108319980, | PATHOGENIC | 0.99344 | 23407552 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 12697903 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 23407552 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 12149228 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 28481359 |
ATM | 795 | COSM21626, | large_intestine | carcinoma | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 28481359 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 23407552 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 23585524 |
ATM | 795 | COSM21626, | urinary_tract | carcinoma | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 28481359 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 23585524 |
ATM | 795 | COSM21626, | large_intestine | carcinoma | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 26488212 |
ATM | 795 | COSM1235414, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A3006T | Substitution - Missense | 11:108365353-108365353, | PATHOGENIC | 0.99343 | 23407552 |
ATM | 795 | COSM21626, | large_intestine | carcinoma | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 27121310 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 24682267 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 11756177 |
ATM | 795 | COSM21626, | pancreas | carcinoma | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 28481359 |
ATM | 795 | COSM21626, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008H | Substitution - Missense | 11:108365360-108365360, | PATHOGENIC | 0.99343 | 10397742 |
ATM | 795 | COSM21326, | kidney | leiomyoblastoma | p.I2356F | Substitution - Missense | 11:108327735-108327735, | PATHOGENIC | 0.9934 | 20054297 |
ATM | 795 | COSM21326, | kidney | leiomyoblastoma | p.I2356F | Substitution - Missense | 11:108327735-108327735, | PATHOGENIC | 0.9934 | 20054297 |
ATM | 795 | COSM21326, | kidney | leiomyoblastoma | p.I2356F | Substitution - Missense | 11:108327735-108327735, | PATHOGENIC | 0.9934 | 20054297 |
ATM | 795 | COSM6935116, | soft_tissue | angiosarcoma | p.W308* | Substitution - Nonsense | 11:108246986-108246986, | PATHOGENIC | 0.99339 | 28481359 |
ATM | 795 | COSM21677, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W308* | Substitution - Nonsense | 11:108246985-108246985, | PATHOGENIC | 0.99339 | 12697903 |
ATM | 795 | COSM6970382, | lung | carcinoma | p.? | Unknown | 11:108301791-108301791, | PATHOGENIC | 0.99331 | 28481359 |
ATM | 795 | COSM6928587, | lung | carcinoma | p.? | Unknown | 11:108284226-108284226, | PATHOGENIC | 0.9933 | 28481359 |
ATM | 795 | COSM6928587, | large_intestine | carcinoma | p.? | Unknown | 11:108284226-108284226, | PATHOGENIC | 0.9933 | 28481359 |
ATM | 795 | COSM6956975, | skin | carcinoma | p.E2304K | Substitution - Missense | 11:108326160-108326160, | PATHOGENIC | 0.99329 | 28481359 |
ATM | 795 | COSM6970816, | central_nervous_system | primitive_neuroectodermal_tumour-medulloblastoma | p.A1272S | Substitution - Missense | 11:108284294-108284294, | PATHOGENIC | 0.99324 | 28481359 |
ATM | 795 | COSM6848032, | pleura | mesothelioma | p.T2961P | Substitution - Missense | 11:108365112-108365112, | PATHOGENIC | 0.99321 | 26928227 |
ATM | 795 | COSM1470374, | NS | malignant_melanoma | p.V2937G | Substitution - Missense | 11:108354834-108354834, | PATHOGENIC | 0.99321 | 25148578 |
ATM | 795 | COSM6974734, | large_intestine | carcinoma | p.I1294S | Substitution - Missense | 11:108284361-108284361, | PATHOGENIC | 0.9932 | 28481359 |
ATM | 795 | COSM1645495, | large_intestine | carcinoma | p.K1191* | Substitution - Nonsense | 11:108281163-108281163, | PATHOGENIC | 0.99317 | 23700467 |
ATM | 795 | COSM6937257, | pancreas | carcinoid-endocrine_tumour | p.M2935I | Substitution - Missense | 11:108354829-108354829, | PATHOGENIC | 0.99315 | 28481359 |
ATM | 795 | COSM6927836, | lung | carcinoma | p.G449E | Substitution - Missense | 11:108250811-108250811, | PATHOGENIC | 0.99312 | 28481359 |
ATM | 795 | COSM6982303, | lung | carcinoma | p.V2951I | Substitution - Missense | 11:108365082-108365082, | PATHOGENIC | 0.99308 | 28481359 |
ATM | 795 | COSM5991582, | skin | adnexal_tumour | p.G1676E | Substitution - Missense | 11:108299735-108299735, | PATHOGENIC | 0.99305 | 27311873 |
ATM | 795 | COSM758350, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108299712-108299712, | PATHOGENIC | 0.99305 | 23091097 |
ATM | 795 | COSM5575480, | ovary | carcinoma | p.G1672R | Substitution - Missense | 11:108299722-108299722, | PATHOGENIC | 0.99305 | 25846551 |
ATM | 795 | COSM6934559, | lung | carcinoma | p.E1182Q | Substitution - Missense | 11:108281136-108281136, | PATHOGENIC | 0.99305 | 28481359 |
ATM | 795 | COSM6937855, | urinary_tract | carcinoma | p.C1674Y | Substitution - Missense | 11:108299729-108299729, | PATHOGENIC | 0.99305 | 28481359 |
ATM | 795 | COSM6934508, | urinary_tract | carcinoma | p.C2349F | Substitution - Missense | 11:108327715-108327715, | PATHOGENIC | 0.99297 | 28481359 |
ATM | 795 | COSM4745875, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K1192E | Substitution - Missense | 11:108281166-108281166, | PATHOGENIC | 0.99297 | 25480502 |
ATM | 795 | COSM6954821, | urinary_tract | carcinoma | p.D2216H | Substitution - Missense | 11:108325383-108325383, | PATHOGENIC | 0.99295 | 28481359 |
ATM | 795 | COSM6916235, | large_intestine | carcinoma | p.V2727F | Substitution - Missense | 11:108335872-108335872, | PATHOGENIC | 0.99293 | 28481359 |
ATM | 795 | COSM6954307, | urinary_tract | carcinoma | p.E2744* | Substitution - Nonsense | 11:108335923-108335923, | PATHOGENIC | 0.99293 | 28481359 |
ATM | 795 | COSM4745887, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108301791-108301791, | PATHOGENIC | 0.99288 | 25480502 |
ATM | 795 | COSM1756737, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2721Y | Substitution - Missense | 11:108335854-108335854, | PATHOGENIC | 0.99284 | 26675346 |
ATM | 795 | COSM6922772, | lung | carcinoma | p.D2720Y | Substitution - Missense | 11:108335851-108335851, | PATHOGENIC | 0.99284 | 28481359 |
ATM | 795 | COSM6982996, | salivary_gland | carcinoma | p.D2016H | Substitution - Missense | 11:108315862-108315862, | PATHOGENIC | 0.99282 | 28481359 |
ATM | 795 | COSM1667048, | lung | carcinoma | p.N3003H | Substitution - Missense | 11:108365344-108365344, | PATHOGENIC | 0.99281 | 23907151 |
ATM | 795 | COSM6067433, | lung | carcinoma | p.G2695C | Substitution - Missense | 11:108335041-108335041, | PATHOGENIC | 0.99278 | 28481359 |
ATM | 795 | COSM6945834, | NS | carcinoma | p.C2704F | Substitution - Missense | 11:108335069-108335069, | PATHOGENIC | 0.99278 | 28481359 |
ATM | 795 | COSM330624, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2395V | Substitution - Missense | 11:108329115-108329115, | PATHOGENIC | 0.99274 | 22952040 |
ATM | 795 | COSM330625, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M2405L | Substitution - Missense | 11:108329144-108329144, | PATHOGENIC | 0.99274 | 22952040 |
ATM | 795 | COSM5009543, | large_intestine | carcinoma | p.I2401V | Substitution - Missense | 11:108329132-108329132, | PATHOGENIC | 0.99267 | 24951259 |
ATM | 795 | COSM5008061, | large_intestine | carcinoma | p.Q2397R | Substitution - Missense | 11:108329121-108329121, | PATHOGENIC | 0.99267 | 24951259 |
ATM | 795 | COSM6196682, | lung | carcinoma | p.P1296L | Substitution - Missense | 11:108284367-108284367, | PATHOGENIC | 0.99266 | 26317919 |
ATM | 795 | COSM4170229, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P1296S | Substitution - Missense | 11:108284366-108284366, | PATHOGENIC | 0.99266 | 25115387 |
ATM | 795 | COSM4170229, | skin | carcinoma | p.P1296S | Substitution - Missense | 11:108284366-108284366, | PATHOGENIC | 0.99266 | 25589618 |
ATM | 795 | COSM22493, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W57* | Substitution - Nonsense | 11:108227874-108227874, | PATHOGENIC | 0.99265 | 24682267 |
ATM | 795 | COSM22493, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W57* | Substitution - Nonsense | 11:108227874-108227874, | PATHOGENIC | 0.99265 | 12697903 |
ATM | 795 | COSM1676419, | large_intestine | carcinoma | p.E277* | Substitution - Nonsense | 11:108244954-108244954, | PATHOGENIC | 0.99264 | 28978093 |
ATM | 795 | COSM1235416, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W1026S | Substitution - Missense | 11:108271406-108271406, | PATHOGENIC | 0.9926 | 23407552 |
ATM | 795 | COSM6966502, | ovary | carcinoma | p.G294E | Substitution - Missense | 11:108245006-108245006, | PATHOGENIC | 0.99256 | 28481359 |
ATM | 795 | COSM6928531, | lung | carcinoma | p.E2411K | Substitution - Missense | 11:108329162-108329162, | PATHOGENIC | 0.99253 | 28481359 |
ATM | 795 | COSM6942742, | prostate | carcinoma | p.A2150T | Substitution - Missense | 11:108320054-108320054, | PATHOGENIC | 0.99247 | 28481359 |
ATM | 795 | COSM22506, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E2423K | Substitution - Missense | 11:108329198-108329198, | PATHOGENIC | 0.9924 | 12697903 |
ATM | 795 | COSM6938143, | lung | carcinoma | p.S83* | Substitution - Nonsense | 11:108229240-108229240, | PATHOGENIC | 0.99237 | 28481359 |
ATM | 795 | COSM4386681, | lung | carcinoma | p.G2063V | Substitution - Missense | 11:108316103-108316103, | PATHOGENIC | 0.99237 | 28481359 |
ATM | 795 | COSM6958969, | breast | carcinoma | p.? | Unknown | 11:108343221-108343221, | PATHOGENIC | 0.99236 | 28481359 |
ATM | 795 | COSM6906317, | lung | carcinoma | p.V2766I | Substitution - Missense | 11:108343249-108343249, | PATHOGENIC | 0.99236 | 28481359 |
ATM | 795 | COSM6906317, | lung | carcinoma | p.V2766I | Substitution - Missense | 11:108343249-108343249, | PATHOGENIC | 0.99236 | 29420467 |
ATM | 795 | COSM6944222, | lung | carcinoma | p.? | Unknown | 11:108343373-108343373, | PATHOGENIC | 0.99233 | 28481359 |
ATM | 795 | COSM6918164, | breast | carcinoma | p.E2449K | Substitution - Missense | 11:108330251-108330251, | PATHOGENIC | 0.99233 | 28481359 |
ATM | 795 | COSM143903, | pancreas | carcinoid-endocrine_tumour | p.S2017I | Substitution - Missense | 11:108315866-108315866, | PATHOGENIC | 0.9923 | 21447618 |
ATM | 795 | COSM93917, | breast | carcinoma | p.D2016Y | Substitution - Missense | 11:108315862-108315862, | PATHOGENIC | 0.9923 | 20668451 |
ATM | 795 | COSM6944368, | lung | carcinoma | p.G2020C | Substitution - Missense | 11:108315874-108315874, | PATHOGENIC | 0.9923 | 28481359 |
ATM | 795 | COSM27342, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108316010-108316010, | PATHOGENIC | 0.99221 | 18573109 |
ATM | 795 | COSM6986878, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I2645K | Substitution - Missense | 11:108333892-108333892, | PATHOGENIC | 0.99198 | 28481359 |
ATM | 795 | COSM3733315, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N3003D | Substitution - Missense | 11:108365344-108365344, | PATHOGENIC | 0.99192 | 24682267 |
ATM | 795 | COSM6191671, | NS | carcinoma | p.D2725N | Substitution - Missense | 11:108335866-108335866, | PATHOGENIC | 0.99189 | 27322425 |
ATM | 795 | COSM6980897, | breast | carcinoma | p.E1129K | Substitution - Missense | 11:108279591-108279591, | PATHOGENIC | 0.99188 | 28481359 |
ATM | 795 | COSM6965631, | lung | carcinoma | p.E1346* | Substitution - Nonsense | 11:108287642-108287642, | PATHOGENIC | 0.99185 | 28481359 |
ATM | 795 | COSM6948924, | endometrium | carcinoma | p.V2937A | Substitution - Missense | 11:108354834-108354834, | PATHOGENIC | 0.99183 | 28481359 |
ATM | 795 | COSM6941059, | biliary_tract | carcinoma | p.C987Y | Substitution - Missense | 11:108271289-108271289, | PATHOGENIC | 0.99182 | 28481359 |
ATM | 795 | COSM200673, | biliary_tract | carcinoma | p.D2721N | Substitution - Missense | 11:108335854-108335854, | PATHOGENIC | 0.99179 | 28481359 |
ATM | 795 | COSM428364, | breast | carcinoma | p.D2720N | Substitution - Missense | 11:108335851-108335851, | PATHOGENIC | 0.99179 | 28270497 |
ATM | 795 | COSM428364, | urinary_tract | carcinoma | p.D2720N | Substitution - Missense | 11:108335851-108335851, | PATHOGENIC | 0.99179 | 28481359 |
ATM | 795 | COSM1235401, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R337P | Substitution - Missense | 11:108247072-108247072, | PATHOGENIC | 0.99177 | 23407552 |
ATM | 795 | COSM6949342, | oesophagus | carcinoma | p.? | Unknown | 11:108325545-108325545, | PATHOGENIC | 0.99175 | 28481359 |
ATM | 795 | COSM5945833, | NS | mesothelioma | p.? | Unknown | 11:108271147-108271147, | PATHOGENIC | 0.99173 | 27507853 |
ATM | 795 | COSM48246, | urinary_tract | carcinoma | p.D2708N | Substitution - Missense | 11:108335080-108335080, | PATHOGENIC | 0.99169 | 28481359 |
ATM | 795 | COSM540829, | central_nervous_system | glioma | p.G2695S | Substitution - Missense | 11:108335041-108335041, | PATHOGENIC | 0.99169 | 25885250 |
ATM | 795 | COSM540829, | prostate | carcinoma | p.G2695S | Substitution - Missense | 11:108335041-108335041, | PATHOGENIC | 0.99169 | 28481359 |
ATM | 795 | COSM48246, | lung | carcinoma | p.D2708N | Substitution - Missense | 11:108335080-108335080, | PATHOGENIC | 0.99169 | 18948947 |
ATM | 795 | COSM4393021, | skin | malignant_melanoma | p.G2694R | Substitution - Missense | 11:108335038-108335038, | PATHOGENIC | 0.99169 | 28481359 |
ATM | 795 | COSM21829, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2713K | Substitution - Missense | 11:108335096-108335096, | PATHOGENIC | 0.99169 | 16631465 |
ATM | 795 | COSM1235441, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F2894V | Substitution - Missense | 11:108353774-108353774, | PATHOGENIC | 0.99167 | 23407552 |
ATM | 795 | COSM12791, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T2666A | Substitution - Missense | 11:108333954-108333954, | PATHOGENIC | 0.99165 | 23585524 |
ATM | 795 | COSM6975078, | urinary_tract | carcinoma | p.S2394* | Substitution - Nonsense | 11:108329112-108329112, | PATHOGENIC | 0.99161 | 28481359 |
ATM | 795 | COSM6974732, | large_intestine | carcinoma | p.R153K | Substitution - Missense | 11:108235796-108235796, | PATHOGENIC | 0.99158 | 28481359 |
ATM | 795 | COSM21636, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2695A | Substitution - Missense | 11:108335042-108335042, | PATHOGENIC | 0.99153 | 23407552 |
ATM | 795 | COSM21636, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2695A | Substitution - Missense | 11:108335042-108335042, | PATHOGENIC | 0.99153 | 9288106 |
ATM | 795 | COSM21636, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2695A | Substitution - Missense | 11:108335042-108335042, | PATHOGENIC | 0.99153 | 10023947 |
ATM | 795 | COSM279036, | stomach | carcinoma | p.P2353T | Substitution - Missense | 11:108327726-108327726, | PATHOGENIC | 0.9915 | 28481359 |
ATM | 795 | COSM12951, | lung | carcinoma | p.Q2442P | Substitution - Missense | 11:108330231-108330231, | PATHOGENIC | 0.99147 | 18948947 |
ATM | 795 | COSM12951, | lung | carcinoma | p.Q2442P | Substitution - Missense | 11:108330231-108330231, | PATHOGENIC | 0.99147 | 16140923 |
ATM | 795 | COSM12951, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q2442P | Substitution - Missense | 11:108330231-108330231, | PATHOGENIC | 0.99147 | 9288106 |
ATM | 795 | COSM12951, | lung | carcinoma | p.Q2442P | Substitution - Missense | 11:108330231-108330231, | PATHOGENIC | 0.99147 | 16140923 |
ATM | 795 | COSM6953897, | breast | carcinoma | p.Q2442R | Substitution - Missense | 11:108330231-108330231, | PATHOGENIC | 0.99146 | 28481359 |
ATM | 795 | COSM1235407, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2312F | Substitution - Missense | 11:108326184-108326184, | PATHOGENIC | 0.99146 | 23407552 |
ATM | 795 | COSM5575555, | ovary | carcinoma | p.E277K | Substitution - Missense | 11:108244954-108244954, | PATHOGENIC | 0.99137 | 25846551 |
ATM | 795 | COSM6948774, | lung | carcinoma | p.A1950T | Substitution - Missense | 11:108310245-108310245, | PATHOGENIC | 0.99132 | 28481359 |
ATM | 795 | COSM21307, | large_intestine | carcinoma | p.A1945T | Substitution - Missense | 11:108310230-108310230, | PATHOGENIC | 0.99132 | Info_not_available |
ATM | 795 | COSM21307, | large_intestine | carcinoma | p.A1945T | Substitution - Missense | 11:108310230-108310230, | PATHOGENIC | 0.99132 | Info_not_available |
ATM | 795 | COSM6958089, | biliary_tract | carcinoma | p.? | Unknown | 11:108271147-108271147, | PATHOGENIC | 0.99129 | 28481359 |
ATM | 795 | COSM6979360, | biliary_tract | carcinoma | p.E2221K | Substitution - Missense | 11:108325398-108325398, | PATHOGENIC | 0.99129 | 28481359 |
ATM | 795 | COSM24634, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M2616I | Substitution - Missense | 11:108332821-108332821, | PATHOGENIC | 0.99128 | 12149228 |
ATM | 795 | COSM6927788, | lung | carcinoma | p.D1637Y | Substitution - Missense | 11:108295059-108295059, | PATHOGENIC | 0.99125 | 28481359 |
ATM | 795 | COSM6939612, | large_intestine | carcinoma | p.L508R | Substitution - Missense | 11:108250988-108250988, | PATHOGENIC | 0.99123 | 28481359 |
ATM | 795 | COSM6934887, | lung | carcinoma | p.G330V | Substitution - Missense | 11:108247051-108247051, | PATHOGENIC | 0.9912 | 28481359 |
ATM | 795 | COSM1235424, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E1978* | Substitution - Nonsense | 11:108312424-108312424, | PATHOGENIC | 0.99116 | 23407552 |
ATM | 795 | COSM21316, | large_intestine | carcinoma | p.R23Q | Substitution - Missense | 11:108227692-108227692, | PATHOGENIC | 0.99115 | 28481359 |
ATM | 795 | COSM21316, | large_intestine | carcinoma | p.R23Q | Substitution - Missense | 11:108227692-108227692, | PATHOGENIC | 0.99115 | Info_not_available |
ATM | 795 | COSM21316, | large_intestine | carcinoma | p.R23Q | Substitution - Missense | 11:108227692-108227692, | PATHOGENIC | 0.99115 | Info_not_available |
ATM | 795 | COSM1235410, | NS | malignant_melanoma | p.V613L | Substitution - Missense | 11:108252851-108252851, | PATHOGENIC | 0.99113 | 25148578 |
ATM | 795 | COSM24633, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2063E | Substitution - Missense | 11:108316103-108316103, | PATHOGENIC | 0.99113 | 12149228 |
ATM | 795 | COSM1235410, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V613L | Substitution - Missense | 11:108252851-108252851, | PATHOGENIC | 0.99113 | 23407552 |
ATM | 795 | COSM6974736, | large_intestine | carcinoma | p.K2515Q | Substitution - Missense | 11:108331471-108331471, | PATHOGENIC | 0.99112 | 28481359 |
ATM | 795 | COSM4745909, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y2755S | Substitution - Missense | 11:108335957-108335957, | PATHOGENIC | 0.99108 | 25480502 |
ATM | 795 | COSM21630, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E2423G | Substitution - Missense | 11:108329199-108329199, | PATHOGENIC | 0.99107 | 10397742 |
ATM | 795 | COSM758328, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T1953A | Substitution - Missense | 11:108310254-108310254, | PATHOGENIC | 0.99104 | 23091097 |
ATM | 795 | COSM758328, | large_intestine | carcinoma | p.T1953A | Substitution - Missense | 11:108310254-108310254, | PATHOGENIC | 0.99104 | 28978093 |
ATM | 795 | COSM24635, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2023R | Substitution - Missense | 11:108315883-108315883, | PATHOGENIC | 0.99101 | 23091097 |
ATM | 795 | COSM24635, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2023R | Substitution - Missense | 11:108315883-108315883, | PATHOGENIC | 0.99101 | 12149228 |
ATM | 795 | COSM141355, | kidney | carcinoma | p.G2024R | Substitution - Missense | 11:108315886-108315886, | PATHOGENIC | 0.99101 | 28481359 |
ATM | 795 | COSM24635, | large_intestine | other | p.G2023R | Substitution - Missense | 11:108315883-108315883, | PATHOGENIC | 0.99101 | 28524162 |
ATM | 795 | COSM6912593, | central_nervous_system | glioma | p.P2982L | Substitution - Missense | 11:108365176-108365176, | PATHOGENIC | 0.99099 | 28481359 |
ATM | 795 | COSM22529, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y2019S | Substitution - Missense | 11:108315872-108315872, | PATHOGENIC | 0.99092 | 16461462 |
ATM | 795 | COSM5607887, | skin | malignant_melanoma | p.Q2066L | Substitution - Missense | 11:108316112-108316112, | PATHOGENIC | 0.99088 | 26343386 |
ATM | 795 | COSM5607895, | skin | malignant_melanoma | p.P2907S | Substitution - Missense | 11:108353813-108353813, | PATHOGENIC | 0.99084 | 26343386 |
ATM | 795 | COSM6983694, | large_intestine | carcinoma | p.Q2896* | Substitution - Nonsense | 11:108353780-108353780, | PATHOGENIC | 0.99084 | 28481359 |
ATM | 795 | COSM1235421, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I323R | Substitution - Missense | 11:108247030-108247030, | PATHOGENIC | 0.99083 | 23407552 |
ATM | 795 | COSM1235421, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I323R | Substitution - Missense | 11:108247030-108247030, | PATHOGENIC | 0.99083 | 23407552 |
ATM | 795 | COSM21937, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L1322I | Substitution - Missense | 11:108284444-108284444, | PATHOGENIC | 0.99076 | 16014569 |
ATM | 795 | COSM1351043, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T2921M | Substitution - Missense | 11:108353856-108353856, | PATHOGENIC | 0.99068 | 28481359 |
ATM | 795 | COSM1315809, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P292R | Substitution - Missense | 11:108245000-108245000, | PATHOGENIC | 0.99066 | 23585524 |
ATM | 795 | COSM6196814, | large_intestine | carcinoma | p.K618R | Substitution - Missense | 11:108252867-108252867, | PATHOGENIC | 0.99049 | 27756406 |
ATM | 795 | COSM1315811, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q984E | Substitution - Missense | 11:108271279-108271279, | PATHOGENIC | 0.99047 | 23585524 |
ATM | 795 | COSM6196809, | large_intestine | carcinoma | p.N602I | Substitution - Missense | 11:108252819-108252819, | PATHOGENIC | 0.99044 | 27756406 |
ATM | 795 | COSM6909659, | thyroid | carcinoma | p.L1295I | Substitution - Missense | 11:108284363-108284363, | PATHOGENIC | 0.99039 | 28481359 |
ATM | 795 | COSM6920923, | biliary_tract | carcinoma | p.N143D | Substitution - Missense | 11:108235765-108235765, | PATHOGENIC | 0.99038 | 28481359 |
ATM | 795 | COSM1235398, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108329240-108329240, | PATHOGENIC | 0.99033 | 23407552 |
ATM | 795 | COSM3733251, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W2042* | Substitution - Nonsense | 11:108316041-108316041, | PATHOGENIC | 0.99029 | 24682267 |
ATM | 795 | COSM6914568, | prostate | carcinoma | p.A2045T | Substitution - Missense | 11:108316048-108316048, | PATHOGENIC | 0.99029 | 28481359 |
ATM | 795 | COSM200671, | lung | carcinoma | p.E2039K | Substitution - Missense | 11:108316030-108316030, | PATHOGENIC | 0.99029 | 28481359 |
ATM | 795 | COSM428362, | large_intestine | carcinoma | p.? | Unknown | 11:108316010-108316010, | PATHOGENIC | 0.99029 | 24951259 |
ATM | 795 | COSM22481, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2725V | Substitution - Missense | 11:108335867-108335867, | PATHOGENIC | 0.99027 | 11756177 |
ATM | 795 | COSM6945892, | biliary_tract | carcinoma | p.G3051R | Substitution - Missense | 11:108365488-108365488, | PATHOGENIC | 0.99027 | 28481359 |
ATM | 795 | COSM22481, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2725V | Substitution - Missense | 11:108335867-108335867, | PATHOGENIC | 0.99027 | 9288106 |
ATM | 795 | COSM758333, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K2756* | Substitution - Nonsense | 11:108335959-108335959, | PATHOGENIC | 0.99027 | 23091097 |
ATM | 795 | COSM6972762, | lung | carcinoma | p.Q2730L | Substitution - Missense | 11:108335882-108335882, | PATHOGENIC | 0.99027 | 28481359 |
ATM | 795 | COSM21882, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2725G | Substitution - Missense | 11:108335867-108335867, | PATHOGENIC | 0.99024 | 9334731 |
ATM | 795 | COSM4745893, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q2724R | Substitution - Missense | 11:108335864-108335864, | PATHOGENIC | 0.99024 | 25480502 |
ATM | 795 | COSM21882, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D2725G | Substitution - Missense | 11:108335867-108335867, | PATHOGENIC | 0.99024 | 24522528 |
ATM | 795 | COSM1235436, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y2019C | Substitution - Missense | 11:108315872-108315872, | PATHOGENIC | 0.99023 | 25480502 |
ATM | 795 | COSM1235417, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E2014G | Substitution - Missense | 11:108315857-108315857, | PATHOGENIC | 0.99023 | 23407552 |
ATM | 795 | COSM1235436, | urinary_tract | carcinoma | p.Y2019C | Substitution - Missense | 11:108315872-108315872, | PATHOGENIC | 0.99023 | 28481359 |
ATM | 795 | COSM1235417, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E2014G | Substitution - Missense | 11:108315857-108315857, | PATHOGENIC | 0.99023 | 23407552 |
ATM | 795 | COSM1235436, | NS | carcinoma | p.Y2019C | Substitution - Missense | 11:108315872-108315872, | PATHOGENIC | 0.99023 | 28481359 |
ATM | 795 | COSM1235436, | lung | carcinoma | p.Y2019C | Substitution - Missense | 11:108315872-108315872, | PATHOGENIC | 0.99023 | 28481359 |
ATM | 795 | COSM1235436, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y2019C | Substitution - Missense | 11:108315872-108315872, | PATHOGENIC | 0.99023 | 23407552 |
ATM | 795 | COSM21674, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K2717M | Substitution - Missense | 11:108335108-108335108, | PATHOGENIC | 0.99022 | 11756177 |
ATM | 795 | COSM6854306, | large_intestine | carcinoma | p.? | Unknown | 11:108334967-108334967, | PATHOGENIC | 0.99022 | 28978093 |
ATM | 795 | COSM6907097, | lung | carcinoma | p.W57G | Substitution - Missense | 11:108227872-108227872, | PATHOGENIC | 0.99017 | 29420467 |
ATM | 795 | COSM6910659, | lung | carcinoma | p.A2308G | Substitution - Missense | 11:108326173-108326173, | PATHOGENIC | 0.99016 | 28481359 |
ATM | 795 | COSM3733390, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2721V | Substitution - Missense | 11:108335855-108335855, | PATHOGENIC | 0.99015 | 24682267 |
ATM | 795 | COSM6912217, | breast | carcinoma | p.D2720G | Substitution - Missense | 11:108335852-108335852, | PATHOGENIC | 0.99012 | 28481359 |
ATM | 795 | COSM6909284, | breast | carcinoma | p.S83L | Substitution - Missense | 11:108229240-108229240, | PATHOGENIC | 0.98996 | 28481359 |
ATM | 795 | COSM6920578, | lung | carcinoma | p.E2815Q | Substitution - Missense | 11:108345767-108345767, | PATHOGENIC | 0.98989 | 28481359 |
ATM | 795 | COSM6935412, | endometrium | carcinoma | p.S978Y | Substitution - Missense | 11:108271262-108271262, | PATHOGENIC | 0.98988 | 28481359 |
ATM | 795 | COSM4990082, | skin | carcinoma | p.P2353L | Substitution - Missense | 11:108327727-108327727, | PATHOGENIC | 0.98981 | 25589618 |
ATM | 795 | COSM6951096, | skin | adnexal_tumour | p.P2353S | Substitution - Missense | 11:108327726-108327726, | PATHOGENIC | 0.98981 | 28481359 |
ATM | 795 | COSM4968800, | endometrium | carcinoma | p.G301C | Substitution - Missense | 11:108245026-108245026, | PATHOGENIC | 0.98979 | 28481359 |
ATM | 795 | COSM2110552, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K1964E | Substitution - Missense | 11:108310287-108310287, | PATHOGENIC | 0.98976 | 24345752 |
ATM | 795 | COSM2110552, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K1964E | Substitution - Missense | 11:108310287-108310287, | PATHOGENIC | 0.98976 | 26675346 |
ATM | 795 | COSM2110552, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K1964E | Substitution - Missense | 11:108310287-108310287, | PATHOGENIC | 0.98976 | 26675346 |
ATM | 795 | COSM21301, | large_intestine | carcinoma | p.R337H | Substitution - Missense | 11:108247072-108247072, | PATHOGENIC | 0.98971 | Info_not_available |
ATM | 795 | COSM21301, | large_intestine | carcinoma | p.R337H | Substitution - Missense | 11:108247072-108247072, | PATHOGENIC | 0.98971 | Info_not_available |
ATM | 795 | COSM21301, | biliary_tract | carcinoma | p.R337H | Substitution - Missense | 11:108247072-108247072, | PATHOGENIC | 0.98971 | 24997986 |
ATM | 795 | COSM21634, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A350T | Substitution - Missense | 11:108247110-108247110, | PATHOGENIC | 0.98971 | 23091097 |
ATM | 795 | COSM21301, | large_intestine | carcinoma | p.R337H | Substitution - Missense | 11:108247072-108247072, | PATHOGENIC | 0.98971 | 28481359 |
ATM | 795 | COSM21301, | salivary_gland | carcinoma | p.R337H | Substitution - Missense | 11:108247072-108247072, | PATHOGENIC | 0.98971 | 28481359 |
ATM | 795 | COSM21634, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A350T | Substitution - Missense | 11:108247110-108247110, | PATHOGENIC | 0.98971 | 10023947 |
ATM | 795 | COSM21301, | large_intestine | carcinoma | p.R337H | Substitution - Missense | 11:108247072-108247072, | PATHOGENIC | 0.98971 | 28481359 |
ATM | 795 | COSM21301, | breast | carcinoma | p.R337H | Substitution - Missense | 11:108247072-108247072, | PATHOGENIC | 0.98971 | 28481359 |
ATM | 795 | COSM6935706, | lung | carcinoma | p.? | Unknown | 11:108319953-108319953, | PATHOGENIC | 0.98969 | 28481359 |
ATM | 795 | COSM22508, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M1L | Substitution - Missense | 11:108227625-108227625, | PATHOGENIC | 0.98962 | 11756177 |
ATM | 795 | COSM6938947, | pleura | mesothelioma | p.P1526L | Substitution - Missense | 11:108292759-108292759, | PATHOGENIC | 0.98956 | 28481359 |
ATM | 795 | COSM6952287, | large_intestine | carcinoma | p.I1332S | Substitution - Missense | 11:108287601-108287601, | PATHOGENIC | 0.98952 | 28481359 |
ATM | 795 | COSM6951855, | soft_tissue | perivascular_epithelioid_cell_tumour_(PEComa) | p.L1348W | Substitution - Missense | 11:108287649-108287649, | PATHOGENIC | 0.9895 | 28481359 |
ATM | 795 | COSM6854125, | large_intestine | carcinoma | p.S2407* | Substitution - Nonsense | 11:108329151-108329151, | PATHOGENIC | 0.98949 | 28978093 |
ATM | 795 | COSM6923807, | lung | carcinoma | p.? | Unknown | 11:108267343-108267343, | PATHOGENIC | 0.98947 | 28481359 |
ATM | 795 | COSM4990084, | skin | carcinoma | p.G2382R | Substitution - Missense | 11:108329075-108329075, | PATHOGENIC | 0.98946 | 25589618 |
ATM | 795 | COSM5009201, | large_intestine | carcinoma | p.S1250Y | Substitution - Missense | 11:108284229-108284229, | PATHOGENIC | 0.98945 | 24951259 |
ATM | 795 | COSM6970771, | skin | carcinoma | p.E1996K | Substitution - Missense | 11:108312478-108312478, | PATHOGENIC | 0.98943 | 28481359 |
ATM | 795 | COSM1315815, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2034P | Substitution - Missense | 11:108316016-108316016, | PATHOGENIC | 0.98931 | 23585524 |
ATM | 795 | COSM21625, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T1953R | Substitution - Missense | 11:108310255-108310255, | PATHOGENIC | 0.98929 | 10397742 |
ATM | 795 | COSM6196827, | large_intestine | carcinoma | p.A1699V | Substitution - Missense | 11:108299804-108299804, | PATHOGENIC | 0.98924 | 27756406 |
ATM | 795 | COSM5416799, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F2393I | Substitution - Missense | 11:108329108-108329108, | PATHOGENIC | 0.98917 | 29386642 |
ATM | 795 | COSM24628, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G3051V | Substitution - Missense | 11:108365489-108365489, | PATHOGENIC | 0.98915 | 12149228 |
ATM | 795 | COSM24628, | lung | carcinoid-endocrine_tumour | p.G3051V | Substitution - Missense | 11:108365489-108365489, | PATHOGENIC | 0.98915 | 28481359 |
ATM | 795 | COSM22509, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P2699R | Substitution - Missense | 11:108335054-108335054, | PATHOGENIC | 0.98915 | 16461462 |
ATM | 795 | COSM6854433, | large_intestine | carcinoma | p.I2356T | Substitution - Missense | 11:108327736-108327736, | PATHOGENIC | 0.98912 | 28978093 |
ATM | 795 | COSM22518, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q162* | Substitution - Nonsense | 11:108235822-108235822, | PATHOGENIC | 0.98905 | 16461462 |
ATM | 795 | COSM6919012, | lung | carcinoma | p.G1202* | Substitution - Nonsense | 11:108282737-108282737, | PATHOGENIC | 0.98904 | 28481359 |
ATM | 795 | COSM6912569, | prostate | carcinoma | p.R1312I | Substitution - Missense | 11:108284415-108284415, | PATHOGENIC | 0.98903 | 28481359 |
ATM | 795 | COSM6947257, | prostate | carcinoma | p.D1604V | Substitution - Missense | 11:108294961-108294961, | PATHOGENIC | 0.98891 | 28481359 |
ATM | 795 | COSM6947257, | prostate | carcinoma | p.D1604V | Substitution - Missense | 11:108294961-108294961, | PATHOGENIC | 0.98891 | 28481359 |
ATM | 795 | COSM6854533, | large_intestine | other | p.G2709D | Substitution - Missense | 11:108335084-108335084, | PATHOGENIC | 0.98883 | 28524162 |
ATM | 795 | COSM6854533, | large_intestine | other | p.G2709D | Substitution - Missense | 11:108335084-108335084, | PATHOGENIC | 0.98883 | 28524162 |
ATM | 795 | COSM6854533, | large_intestine | other | p.G2709D | Substitution - Missense | 11:108335084-108335084, | PATHOGENIC | 0.98883 | 28524162 |
ATM | 795 | COSM6854533, | large_intestine | other | p.G2709D | Substitution - Missense | 11:108335084-108335084, | PATHOGENIC | 0.98883 | 28524162 |
ATM | 795 | COSM6854533, | large_intestine | other | p.G2709D | Substitution - Missense | 11:108335084-108335084, | PATHOGENIC | 0.98883 | 28524162 |
ATM | 795 | COSM1645451, | large_intestine | carcinoma | p.Y2954N | Substitution - Missense | 11:108365091-108365091, | PATHOGENIC | 0.98877 | 23700467 |
ATM | 795 | COSM27341, | biliary_tract | carcinoma | p.S2394L | Substitution - Missense | 11:108329112-108329112, | PATHOGENIC | 0.98875 | 28481359 |
ATM | 795 | COSM27341, | urinary_tract | carcinoma | p.S2394L | Substitution - Missense | 11:108329112-108329112, | PATHOGENIC | 0.98875 | 28481359 |
ATM | 795 | COSM27341, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S2394L | Substitution - Missense | 11:108329112-108329112, | PATHOGENIC | 0.98875 | 18573109 |
ATM | 795 | COSM6918978, | large_intestine | carcinoma | p.? | Unknown | 11:108243952-108243952, | PATHOGENIC | 0.98874 | 28481359 |
ATM | 795 | COSM6915233, | skin | malignant_melanoma | p.G2694E | Substitution - Missense | 11:108335039-108335039, | PATHOGENIC | 0.98872 | 28481359 |
ATM | 795 | COSM6915233, | soft_tissue | angiosarcoma | p.G2694E | Substitution - Missense | 11:108335039-108335039, | PATHOGENIC | 0.98872 | 28481359 |
ATM | 795 | COSM6915233, | thyroid | carcinoma | p.G2694E | Substitution - Missense | 11:108335039-108335039, | PATHOGENIC | 0.98872 | 28481359 |
ATM | 795 | COSM6906457, | urinary_tract | carcinoma | p.A1950D | Substitution - Missense | 11:108310246-108310246, | PATHOGENIC | 0.98867 | 29420467 |
ATM | 795 | COSM6196821, | large_intestine | carcinoma | p.W1805S | Substitution - Missense | 11:108302947-108302947, | PATHOGENIC | 0.98867 | 27756406 |
ATM | 795 | COSM2110476, | large_intestine | carcinoma | p.T1350M | Substitution - Missense | 11:108287655-108287655, | PATHOGENIC | 0.98866 | 28481359 |
ATM | 795 | COSM1604054, | liver | carcinoma | p.V2951D | Substitution - Missense | 11:108365083-108365083, | PATHOGENIC | 0.98862 | Info_not_available |
ATM | 795 | COSM6975633, | lung | carcinoma | p.Q2724K | Substitution - Missense | 11:108335863-108335863, | PATHOGENIC | 0.98859 | 28481359 |
ATM | 795 | COSM6842404, | skin | carcinoma | p.Q1331* | Substitution - Nonsense | 11:108284471-108284471, | PATHOGENIC | 0.98856 | 28984303 |
ATM | 795 | COSM6952030, | stomach | carcinoma | p.C1674R | Substitution - Missense | 11:108299728-108299728, | PATHOGENIC | 0.98853 | 28481359 |
ATM | 795 | COSM6918644, | skin | carcinoma | p.L2541I | Substitution - Missense | 11:108331549-108331549, | PATHOGENIC | 0.98853 | 28481359 |
ATM | 795 | COSM6982936, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.S751F | Substitution - Missense | 11:108257482-108257482, | PATHOGENIC | 0.98842 | 28481359 |
ATM | 795 | COSM922698, | endometrium | carcinoma | p.S131* | Substitution - Nonsense | 11:108235730-108235730, | PATHOGENIC | 0.98838 | 27159395 |
ATM | 795 | COSM5546583, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R981C | Substitution - Missense | 11:108271270-108271270, | PATHOGENIC | 0.98837 | 24920063 |
ATM | 795 | COSM1297603, | adrenal_gland | adrenal_cortical_carcinoma | p.R982C | Substitution - Missense | 11:108271273-108271273, | PATHOGENIC | 0.98837 | 28481359 |
ATM | 795 | COSM6947250, | lung | carcinoma | p.? | Unknown | 11:108243952-108243952, | PATHOGENIC | 0.98834 | 28481359 |
ATM | 795 | COSM6976717, | prostate | carcinoma | p.C1045Y | Substitution - Missense | 11:108272588-108272588, | PATHOGENIC | 0.98833 | 28481359 |
ATM | 795 | COSM22516, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A3006V | Substitution - Missense | 11:108365354-108365354, | PATHOGENIC | 0.98831 | 16461462 |
ATM | 795 | COSM6944070, | skin | carcinoma | p.C2770G | Substitution - Missense | 11:108343261-108343261, | PATHOGENIC | 0.98825 | 28481359 |
ATM | 795 | COSM5703868, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V2441F | Substitution - Missense | 11:108330227-108330227, | PATHOGENIC | 0.98825 | 29386642 |
ATM | 795 | COSM6976216, | lung | carcinoma | p.G529V | Substitution - Missense | 11:108251051-108251051, | PATHOGENIC | 0.98824 | 28481359 |
ATM | 795 | COSM6984748, | lung | carcinoma | p.W1058C | Substitution - Missense | 11:108272742-108272742, | PATHOGENIC | 0.98814 | 28481359 |
ATM | 795 | COSM6934945, | prostate | carcinoma | p.P292L | Substitution - Missense | 11:108245000-108245000, | PATHOGENIC | 0.98812 | 28481359 |
ATM | 795 | COSM6984714, | prostate | carcinoma | p.L2659* | Substitution - Nonsense | 11:108333934-108333934, | PATHOGENIC | 0.98811 | 28481359 |
ATM | 795 | COSM22519, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W393* | Substitution - Nonsense | 11:108249046-108249046, | PATHOGENIC | 0.98809 | 16461462 |
ATM | 795 | COSM21680, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2445P | Substitution - Missense | 11:108330240-108330240, | PATHOGENIC | 0.98807 | 12697903 |
ATM | 795 | COSM6056876, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2173H | Substitution - Missense | 11:108321366-108321366, | PATHOGENIC | 0.98799 | 27683039 |
ATM | 795 | COSM6493985, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P2029R | Substitution - Missense | 11:108315902-108315902, | PATHOGENIC | 0.98794 | 27534895 |
ATM | 795 | COSM6493985, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P2029R | Substitution - Missense | 11:108315902-108315902, | PATHOGENIC | 0.98794 | 27534895 |
ATM | 795 | COSM5575573, | ovary | carcinoma | p.E1995* | Substitution - Nonsense | 11:108312475-108312475, | PATHOGENIC | 0.98793 | 25846551 |
ATM | 795 | COSM6907759, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108316114-108316114, | PATHOGENIC | 0.98787 | 29386642 |
ATM | 795 | COSM22477, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V2424G | Substitution - Missense | 11:108329202-108329202, | PATHOGENIC | 0.98784 | 9288106 |
ATM | 795 | COSM6907618, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G3030E | Substitution - Missense | 11:108365426-108365426, | PATHOGENIC | 0.98783 | 29386642 |
ATM | 795 | COSM6939940, | small_intestine | carcinoma | p.F2393S | Substitution - Missense | 11:108329109-108329109, | PATHOGENIC | 0.98778 | 28481359 |
ATM | 795 | COSM5341393, | lung | carcinoma | p.W3055* | Substitution - Nonsense | 11:108365502-108365502, | PATHOGENIC | 0.98776 | 28481359 |
ATM | 795 | COSM3733378, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2293P | Substitution - Missense | 11:108326128-108326128, | PATHOGENIC | 0.9877 | 24682267 |
ATM | 795 | COSM6914480, | endometrium | carcinoma | p.C2931W | Substitution - Missense | 11:108354817-108354817, | PATHOGENIC | 0.98769 | 28481359 |
ATM | 795 | COSM5369810, | lung | carcinoma | p.G2891C | Substitution - Missense | 11:108347365-108347365, | PATHOGENIC | 0.98766 | 26164066 |
ATM | 795 | COSM21828, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S978P | Substitution - Missense | 11:108271261-108271261, | PATHOGENIC | 0.98765 | 16631465 |
ATM | 795 | COSM6918589, | thyroid | adenoma-nodule-goitre | p.Q2177* | Substitution - Nonsense | 11:108321377-108321377, | PATHOGENIC | 0.98757 | 28481359 |
ATM | 795 | COSM48241, | lung | carcinoma | p.L1322P | Substitution - Missense | 11:108284445-108284445, | PATHOGENIC | 0.98737 | 18948947 |
ATM | 795 | COSM22522, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W1221* | Substitution - Nonsense | 11:108282796-108282796, | PATHOGENIC | 0.98733 | 16461462 |
ATM | 795 | COSM6924597, | urinary_tract | carcinoma | p.E2621* | Substitution - Nonsense | 11:108332834-108332834, | PATHOGENIC | 0.98727 | 28481359 |
ATM | 795 | COSM3733462, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q2762* | Substitution - Nonsense | 11:108343237-108343237, | PATHOGENIC | 0.98726 | 24682267 |
ATM | 795 | COSM3733462, | lung | carcinoma | p.Q2762* | Substitution - Nonsense | 11:108343237-108343237, | PATHOGENIC | 0.98726 | 28481359 |
ATM | 795 | COSM4745890, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108326227-108326227, | PATHOGENIC | 0.98714 | 25480502 |
ATM | 795 | COSM6912076, | skin | malignant_melanoma | p.P2648L | Substitution - Missense | 11:108333901-108333901, | PATHOGENIC | 0.98712 | 28481359 |
ATM | 795 | COSM6917864, | skin | malignant_melanoma | p.P2665S | Substitution - Missense | 11:108333951-108333951, | PATHOGENIC | 0.98712 | 28481359 |
ATM | 795 | COSM1756735, | lung | carcinoma | p.T2666I | Substitution - Missense | 11:108333955-108333955, | PATHOGENIC | 0.98712 | 26645239 |
ATM | 795 | COSM4745874, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q1098* | Substitution - Nonsense | 11:108279498-108279498, | PATHOGENIC | 0.98703 | 25480502 |
ATM | 795 | COSM6958157, | liver | carcinoma | p.L2952P | Substitution - Missense | 11:108365086-108365086, | PATHOGENIC | 0.98702 | 28481359 |
ATM | 795 | COSM6936068, | lung | carcinoma | p.F2732L | Substitution - Missense | 11:108335889-108335889, | PATHOGENIC | 0.98696 | 28481359 |
ATM | 795 | COSM5574253, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V2731G | Substitution - Missense | 11:108335885-108335885, | PATHOGENIC | 0.9868 | 26675346 |
ATM | 795 | COSM5574253, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V2731G | Substitution - Missense | 11:108335885-108335885, | PATHOGENIC | 0.9868 | 26675346 |
ATM | 795 | COSM1315818, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F2732V | Substitution - Missense | 11:108335887-108335887, | PATHOGENIC | 0.9868 | 23585524 |
ATM | 795 | COSM327924, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2490F | Substitution - Missense | 11:108330374-108330374, | PATHOGENIC | 0.98668 | 24920063 |
ATM | 795 | COSM1235406, | pancreas | carcinoid-endocrine_tumour | p.S2489F | Substitution - Missense | 11:108330372-108330372, | PATHOGENIC | 0.98668 | 28481359 |
ATM | 795 | COSM1235406, | skin | adnexal_tumour | p.S2489F | Substitution - Missense | 11:108330372-108330372, | PATHOGENIC | 0.98668 | 28481359 |
ATM | 795 | COSM1235406, | small_intestine | carcinoma | p.S2489F | Substitution - Missense | 11:108330372-108330372, | PATHOGENIC | 0.98668 | 28481359 |
ATM | 795 | COSM327924, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2490F | Substitution - Missense | 11:108330374-108330374, | PATHOGENIC | 0.98668 | 22674506 |
ATM | 795 | COSM758331, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2492F | Substitution - Missense | 11:108330380-108330380, | PATHOGENIC | 0.98668 | 23091097 |
ATM | 795 | COSM1235406, | skin | carcinoma | p.S2489F | Substitution - Missense | 11:108330372-108330372, | PATHOGENIC | 0.98668 | 28481359 |
ATM | 795 | COSM1235406, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S2489F | Substitution - Missense | 11:108330372-108330372, | PATHOGENIC | 0.98668 | 23407552 |
ATM | 795 | COSM327924, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2490F | Substitution - Missense | 11:108330374-108330374, | PATHOGENIC | 0.98668 | 28481359 |
ATM | 795 | COSM1235406, | skin | carcinoma | p.S2489F | Substitution - Missense | 11:108330372-108330372, | PATHOGENIC | 0.98668 | 25589618 |
ATM | 795 | COSM22480, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2722R | Substitution - Missense | 11:108335858-108335858, | PATHOGENIC | 0.98664 | 9288106 |
ATM | 795 | COSM6972083, | breast | carcinoma | p.E1428* | Substitution - Nonsense | 11:108289647-108289647, | PATHOGENIC | 0.98662 | 28481359 |
ATM | 795 | COSM6913266, | cervix | carcinoma | p.G1746R | Substitution - Missense | 11:108301706-108301706, | PATHOGENIC | 0.98661 | 28481359 |
ATM | 795 | COSM20483, | large_intestine | carcinoma | p.S2408L | Substitution - Missense | 11:108329154-108329154, | PATHOGENIC | 0.98659 | Info_not_available |
ATM | 795 | COSM1235423, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L236R | Substitution - Missense | 11:108244832-108244832, | PATHOGENIC | 0.98659 | 23407552 |
ATM | 795 | COSM20483, | large_intestine | carcinoma | p.S2408L | Substitution - Missense | 11:108329154-108329154, | PATHOGENIC | 0.98659 | Info_not_available |
ATM | 795 | COSM1235423, | lung | carcinoma | p.L236R | Substitution - Missense | 11:108244832-108244832, | PATHOGENIC | 0.98659 | 28481359 |
ATM | 795 | COSM6940978, | urinary_tract | carcinoma | p.D2889N | Substitution - Missense | 11:108347359-108347359, | PATHOGENIC | 0.98651 | 28481359 |
ATM | 795 | COSM6921578, | endometrium | carcinoma | p.G2891S | Substitution - Missense | 11:108347365-108347365, | PATHOGENIC | 0.98651 | 28481359 |
ATM | 795 | COSM6023989, | breast | carcinoma | p.W1795* | Substitution - Nonsense | 11:108302918-108302918, | PATHOGENIC | 0.98643 | 26563128 |
ATM | 795 | COSM22497, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108271408-108271408, | PATHOGENIC | 0.9864 | 12697903 |
ATM | 795 | COSM6950228, | central_nervous_system | glioma | p.G1459E | Substitution - Missense | 11:108289741-108289741, | PATHOGENIC | 0.9864 | 28481359 |
ATM | 795 | COSM6503530, | pancreas | carcinoid-endocrine_tumour | p.F1025S | Substitution - Missense | 11:108271403-108271403, | PATHOGENIC | 0.9864 | 27994516 |
ATM | 795 | COSM6444629, | endometrium | carcinoma | p.F2516C | Substitution - Missense | 11:108331475-108331475, | PATHOGENIC | 0.98631 | 27159395 |
ATM | 795 | COSM24631, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q2593* | Substitution - Nonsense | 11:108332026-108332026, | PATHOGENIC | 0.9863 | 12149228 |
ATM | 795 | COSM24631, | urinary_tract | carcinoma | p.Q2593* | Substitution - Nonsense | 11:108332026-108332026, | PATHOGENIC | 0.9863 | 28481359 |
ATM | 795 | COSM6978923, | large_intestine | carcinoma | p.? | Unknown | 11:108272721-108272721, | PATHOGENIC | 0.98616 | 28481359 |
ATM | 795 | COSM21923, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T2438K | Substitution - Missense | 11:108330219-108330219, | PATHOGENIC | 0.98611 | 16014569 |
ATM | 795 | COSM6503529, | large_intestine | carcinoma | p.L1295F | Substitution - Missense | 11:108284363-108284363, | PATHOGENIC | 0.98598 | 28481359 |
ATM | 795 | COSM6503529, | pancreas | carcinoid-endocrine_tumour | p.L1295F | Substitution - Missense | 11:108284363-108284363, | PATHOGENIC | 0.98598 | 27994516 |
ATM | 795 | COSM4664081, | prostate | carcinoma | p.? | Unknown | 11:108227698-108227698, | PATHOGENIC | 0.98596 | 28481359 |
ATM | 795 | COSM5009205, | large_intestine | carcinoma | p.D2050Y | Substitution - Missense | 11:108316063-108316063, | PATHOGENIC | 0.98596 | 24951259 |
ATM | 795 | COSM6924994, | thyroid | carcinoma | p.L2738* | Substitution - Nonsense | 11:108335906-108335906, | PATHOGENIC | 0.98589 | 28481359 |
ATM | 795 | COSM4551820, | breast | carcinoma | p.W1805* | Substitution - Nonsense | 11:108302948-108302948, | PATHOGENIC | 0.98589 | 28481359 |
ATM | 795 | COSM1235437, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L43P | Substitution - Missense | 11:108227831-108227831, | PATHOGENIC | 0.98586 | 23407552 |
ATM | 795 | COSM6922612, | lung | carcinoma | p.W2769R | Substitution - Missense | 11:108343258-108343258, | PATHOGENIC | 0.98581 | 28481359 |
ATM | 795 | COSM6907095, | lung | carcinoma | p.S47* | Substitution - Nonsense | 11:108227843-108227843, | PATHOGENIC | 0.9858 | 29420467 |
ATM | 795 | COSM6982755, | large_intestine | carcinoma | p.L1517I | Substitution - Missense | 11:108292731-108292731, | PATHOGENIC | 0.98573 | 28481359 |
ATM | 795 | COSM6982755, | endometrium | carcinoma | p.L1517I | Substitution - Missense | 11:108292731-108292731, | PATHOGENIC | 0.98573 | 28481359 |
ATM | 795 | COSM415350, | central_nervous_system | glioma | p.I2888L | Substitution - Missense | 11:108347356-108347356, | PATHOGENIC | 0.98572 | 26487540 |
ATM | 795 | COSM6913314, | urinary_tract | carcinoma | p.E38* | Substitution - Nonsense | 11:108227815-108227815, | PATHOGENIC | 0.98568 | 28481359 |
ATM | 795 | COSM49005, | lung | carcinoma | p.? | Unknown | 11:108301647-108301647, | PATHOGENIC | 0.98563 | 18948947 |
ATM | 795 | COSM4745889, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108325307-108325307, | PATHOGENIC | 0.98557 | 25480502 |
ATM | 795 | COSM1297609, | breast | carcinoma | p.E2094K | Substitution - Missense | 11:108317454-108317454, | PATHOGENIC | 0.98556 | 28481359 |
ATM | 795 | COSM1297609, | breast | carcinoma | p.E2094K | Substitution - Missense | 11:108317454-108317454, | PATHOGENIC | 0.98556 | 28481359 |
ATM | 795 | COSM20404, | breast | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | 28481359 |
ATM | 795 | COSM20404, | large_intestine | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | Info_not_available |
ATM | 795 | COSM20404, | large_intestine | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | 29029407 |
ATM | 795 | COSM20404, | urinary_tract | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | 28548125 |
ATM | 795 | COSM20404, | large_intestine | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | Info_not_available |
ATM | 795 | COSM20404, | large_intestine | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | 29029407 |
ATM | 795 | COSM20404, | urinary_tract | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | 29420467 |
ATM | 795 | COSM20404, | urinary_tract | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | 28481359 |
ATM | 795 | COSM20404, | large_intestine | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | Info_not_available |
ATM | 795 | COSM20404, | large_intestine | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | Info_not_available |
ATM | 795 | COSM20404, | urinary_tract | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | 29420467 |
ATM | 795 | COSM20404, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | 16461462 |
ATM | 795 | COSM20404, | large_intestine | carcinoma | p.R2443Q | Substitution - Missense | 11:108330234-108330234, | PATHOGENIC | 0.98548 | 29029407 |
ATM | 795 | COSM6196815, | large_intestine | carcinoma | p.P604L | Substitution - Missense | 11:108252825-108252825, | PATHOGENIC | 0.98544 | 27756406 |
ATM | 795 | COSM1235431, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y2019N | Substitution - Missense | 11:108315871-108315871, | PATHOGENIC | 0.98543 | 23407552 |
ATM | 795 | COSM1238050, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2416P | Substitution - Missense | 11:108329178-108329178, | PATHOGENIC | 0.98537 | 23407552 |
ATM | 795 | COSM48244, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2417P | Substitution - Missense | 11:108329181-108329181, | PATHOGENIC | 0.98537 | 26675346 |
ATM | 795 | COSM48244, | lung | carcinoma | p.L2417P | Substitution - Missense | 11:108329181-108329181, | PATHOGENIC | 0.98537 | 18948947 |
ATM | 795 | COSM1238050, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2416P | Substitution - Missense | 11:108329178-108329178, | PATHOGENIC | 0.98537 | 22210878 |
ATM | 795 | COSM22536, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108272609-108272609, | PATHOGENIC | 0.98537 | 16461462 |
ATM | 795 | COSM48244, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2417P | Substitution - Missense | 11:108329181-108329181, | PATHOGENIC | 0.98537 | 26675346 |
ATM | 795 | COSM6854050, | large_intestine | carcinoma | p.L2098R | Substitution - Missense | 11:108317467-108317467, | PATHOGENIC | 0.98533 | 28481359 |
ATM | 795 | COSM6854050, | large_intestine | carcinoma | p.L2098R | Substitution - Missense | 11:108317467-108317467, | PATHOGENIC | 0.98533 | 28978093 |
ATM | 795 | COSM4745892, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2715F | Substitution - Missense | 11:108335101-108335101, | PATHOGENIC | 0.9852 | 25480502 |
ATM | 795 | COSM5369868, | lung | carcinoma | p.P2699L | Substitution - Missense | 11:108335054-108335054, | PATHOGENIC | 0.9852 | 28481359 |
ATM | 795 | COSM5575334, | ovary | carcinoma | p.S2685L | Substitution - Missense | 11:108335012-108335012, | PATHOGENIC | 0.9852 | 25846551 |
ATM | 795 | COSM5369868, | lung | carcinoma | p.P2699L | Substitution - Missense | 11:108335054-108335054, | PATHOGENIC | 0.9852 | 26164066 |
ATM | 795 | COSM5575336, | ovary | carcinoma | p.Q2714* | Substitution - Nonsense | 11:108335098-108335098, | PATHOGENIC | 0.9852 | 25846551 |
ATM | 795 | COSM5731188, | small_intestine | carcinoma | p.S2707F | Substitution - Missense | 11:108335078-108335078, | PATHOGENIC | 0.9852 | 26315110 |
ATM | 795 | COSM4745892, | prostate | carcinoma | p.L2715F | Substitution - Missense | 11:108335101-108335101, | PATHOGENIC | 0.9852 | 28481359 |
ATM | 795 | COSM6972380, | small_intestine | carcinoma | p.F627S | Substitution - Missense | 11:108252894-108252894, | PATHOGENIC | 0.9851 | 28481359 |
ATM | 795 | COSM21922, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V1941L | Substitution - Missense | 11:108310218-108310218, | PATHOGENIC | 0.98509 | 16014569 |
ATM | 795 | COSM21922, | NS | carcinoma | p.V1941L | Substitution - Missense | 11:108310218-108310218, | PATHOGENIC | 0.98509 | 27322425 |
ATM | 795 | COSM21922, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V1941L | Substitution - Missense | 11:108310218-108310218, | PATHOGENIC | 0.98509 | 16014569 |
ATM | 795 | COSM6916988, | upper_aerodigestive_tract | carcinoma | p.G2072R | Substitution - Missense | 11:108317388-108317388, | PATHOGENIC | 0.98496 | 28481359 |
ATM | 795 | COSM6916988, | breast | carcinoma | p.G2072R | Substitution - Missense | 11:108317388-108317388, | PATHOGENIC | 0.98496 | 28481359 |
ATM | 795 | COSM3724461, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y2036N | Substitution - Missense | 11:108316021-108316021, | PATHOGENIC | 0.98483 | 24584352 |
ATM | 795 | COSM6937857, | urinary_tract | carcinoma | p.Y1938H | Substitution - Missense | 11:108310209-108310209, | PATHOGENIC | 0.98472 | 28481359 |
ATM | 795 | COSM6945244, | urinary_tract | carcinoma | p.S421* | Substitution - Nonsense | 11:108250727-108250727, | PATHOGENIC | 0.98459 | 28481359 |
ATM | 795 | COSM6916951, | large_intestine | carcinoma | p.W266L | Substitution - Missense | 11:108244922-108244922, | PATHOGENIC | 0.98458 | 28481359 |
ATM | 795 | COSM6196813, | large_intestine | carcinoma | p.E3021V | Substitution - Missense | 11:108365399-108365399, | PATHOGENIC | 0.98451 | 27756406 |
ATM | 795 | COSM6968345, | breast | carcinoma | p.D1758N | Substitution - Missense | 11:108301742-108301742, | PATHOGENIC | 0.98449 | 28481359 |
ATM | 795 | COSM5008643, | biliary_tract | carcinoma | p.E2570* | Substitution - Nonsense | 11:108331957-108331957, | PATHOGENIC | 0.98447 | 28481359 |
ATM | 795 | COSM5008643, | large_intestine | carcinoma | p.E2570* | Substitution - Nonsense | 11:108331957-108331957, | PATHOGENIC | 0.98447 | 24951259 |
ATM | 795 | COSM5575567, | ovary | carcinoma | p.? | Unknown | 11:108227697-108227697, | PATHOGENIC | 0.98443 | 25846551 |
ATM | 795 | COSM1235404, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P2699T | Substitution - Missense | 11:108335053-108335053, | PATHOGENIC | 0.98439 | 23407552 |
ATM | 795 | COSM6978369, | pancreas | carcinoma | p.? | Unknown | 11:108335111-108335111, | PATHOGENIC | 0.98411 | 28481359 |
ATM | 795 | COSM6196812, | large_intestine | carcinoma | p.I2752T | Substitution - Missense | 11:108335948-108335948, | PATHOGENIC | 0.98406 | 27756406 |
ATM | 795 | COSM1739779, | central_nervous_system | glioma | p.V2727A | Substitution - Missense | 11:108335873-108335873, | PATHOGENIC | 0.98406 | 28201779 |
ATM | 795 | COSM1739779, | central_nervous_system | glioma | p.V2727A | Substitution - Missense | 11:108335873-108335873, | PATHOGENIC | 0.98406 | 28201779 |
ATM | 795 | COSM1739779, | central_nervous_system | glioma | p.V2727A | Substitution - Missense | 11:108335873-108335873, | PATHOGENIC | 0.98406 | 28201779 |
ATM | 795 | COSM1739779, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V2727A | Substitution - Missense | 11:108335873-108335873, | PATHOGENIC | 0.98406 | 25480502 |
ATM | 795 | COSM22482, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F2732L | Substitution - Missense | 11:108335887-108335887, | PATHOGENIC | 0.98406 | 9288106 |
ATM | 795 | COSM3724463, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F2686L | Substitution - Missense | 11:108335014-108335014, | PATHOGENIC | 0.98388 | 24584352 |
ATM | 795 | COSM758346, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2750S | Substitution - Missense | 11:108335942-108335942, | PATHOGENIC | 0.98385 | 23091097 |
ATM | 795 | COSM5009203, | large_intestine | carcinoma | p.Y1763C | Substitution - Missense | 11:108301758-108301758, | PATHOGENIC | 0.98375 | 24951259 |
ATM | 795 | COSM6956867, | upper_aerodigestive_tract | carcinoma | p.K1964N | Substitution - Missense | 11:108310289-108310289, | PATHOGENIC | 0.9835 | 28481359 |
ATM | 795 | COSM6935414, | endometrium | carcinoma | p.P1235H | Substitution - Missense | 11:108282837-108282837, | PATHOGENIC | 0.9835 | 28481359 |
ATM | 795 | COSM1235413, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W1750* | Substitution - Nonsense | 11:108301719-108301719, | PATHOGENIC | 0.98331 | 23407552 |
ATM | 795 | COSM1235413, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W1750* | Substitution - Nonsense | 11:108301719-108301719, | PATHOGENIC | 0.98331 | 29262531 |
ATM | 795 | COSM6906485, | urinary_tract | carcinoma | p.G1746E | Substitution - Missense | 11:108301707-108301707, | PATHOGENIC | 0.98331 | 29420467 |
ATM | 795 | COSM6987588, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G255R | Substitution - Missense | 11:108244888-108244888, | PATHOGENIC | 0.98327 | 28481359 |
ATM | 795 | COSM21827, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P1054R | Substitution - Missense | 11:108272729-108272729, | PATHOGENIC | 0.9832 | 27534895 |
ATM | 795 | COSM21827, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P1054R | Substitution - Missense | 11:108272729-108272729, | PATHOGENIC | 0.9832 | 16631465 |
ATM | 795 | COSM21827, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P1054R | Substitution - Missense | 11:108272729-108272729, | PATHOGENIC | 0.9832 | 27534895 |
ATM | 795 | COSM21827, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P1054R | Substitution - Missense | 11:108272729-108272729, | PATHOGENIC | 0.9832 | 27534895 |
ATM | 795 | COSM21827, | skin | carcinoma | p.P1054R | Substitution - Missense | 11:108272729-108272729, | PATHOGENIC | 0.9832 | 25589618 |
ATM | 795 | COSM21827, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P1054R | Substitution - Missense | 11:108272729-108272729, | PATHOGENIC | 0.9832 | 27534895 |
ATM | 795 | COSM21827, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P1054R | Substitution - Missense | 11:108272729-108272729, | PATHOGENIC | 0.9832 | 27534895 |
ATM | 795 | COSM6956314, | large_intestine | carcinoma | p.M94I | Substitution - Missense | 11:108229274-108229274, | PATHOGENIC | 0.98315 | 28481359 |
ATM | 795 | COSM21641, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y332C | Substitution - Missense | 11:108247057-108247057, | PATHOGENIC | 0.98298 | 9892178 |
ATM | 795 | COSM6907415, | urinary_tract | carcinoma | p.? | Unknown | 11:108304674-108304674, | PATHOGENIC | 0.98283 | 25225064 |
ATM | 795 | COSM6196835, | large_intestine | carcinoma | p.Q355* | Substitution - Nonsense | 11:108247125-108247125, | PATHOGENIC | 0.98256 | 27756406 |
ATM | 795 | COSM6196835, | skin | carcinoma | p.Q355* | Substitution - Nonsense | 11:108247125-108247125, | PATHOGENIC | 0.98256 | 28984303 |
ATM | 795 | COSM6054479, | lung | carcinoma | p.E2422Q | Substitution - Missense | 11:108329195-108329195, | PATHOGENIC | 0.98249 | 28481359 |
ATM | 795 | COSM6906599, | lung | carcinoma | p.R1039I | Substitution - Missense | 11:108272570-108272570, | PATHOGENIC | 0.98235 | 29420467 |
ATM | 795 | COSM6941788, | kidney | carcinoma | p.G1522A | Substitution - Missense | 11:108292747-108292747, | PATHOGENIC | 0.98211 | 28481359 |
ATM | 795 | COSM6854222, | large_intestine | carcinoma | p.E1751V | Substitution - Missense | 11:108301722-108301722, | PATHOGENIC | 0.98206 | 28978093 |
ATM | 795 | COSM6854222, | large_intestine | carcinoma | p.E1751V | Substitution - Missense | 11:108301722-108301722, | PATHOGENIC | 0.98206 | 28978093 |
ATM | 795 | COSM6973532, | large_intestine | carcinoma | p.R2719C | Substitution - Missense | 11:108335848-108335848, | PATHOGENIC | 0.98196 | 28481359 |
ATM | 795 | COSM6968556, | lung | carcinoma | p.E461D | Substitution - Missense | 11:108250848-108250848, | PATHOGENIC | 0.98193 | 28481359 |
ATM | 795 | COSM6947468, | urinary_tract | carcinoma | p.R2400T | Substitution - Missense | 11:108329130-108329130, | PATHOGENIC | 0.98191 | 28481359 |
ATM | 795 | COSM6967201, | large_intestine | carcinoma | p.K792N | Substitution - Missense | 11:108257606-108257606, | PATHOGENIC | 0.98188 | 28481359 |
ATM | 795 | COSM5575559, | ovary | carcinoma | p.L1956I | Substitution - Missense | 11:108310263-108310263, | PATHOGENIC | 0.98187 | 25846551 |
ATM | 795 | COSM1315823, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108246963-108246963, | PATHOGENIC | 0.98154 | 23585524 |
ATM | 795 | COSM6954305, | urinary_tract | carcinoma | p.Q401* | Substitution - Nonsense | 11:108249068-108249068, | PATHOGENIC | 0.98136 | 28481359 |
ATM | 795 | COSM22474, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L1910H | Substitution - Missense | 11:108307951-108307951, | PATHOGENIC | 0.98131 | 9288106 |
ATM | 795 | COSM6969322, | lung | carcinoma | p.T2771K | Substitution - Missense | 11:108343265-108343265, | PATHOGENIC | 0.98114 | 28481359 |
ATM | 795 | COSM132865, | large_intestine | carcinoma | p.P2699S | Substitution - Missense | 11:108335053-108335053, | PATHOGENIC | 0.98104 | 27756406 |
ATM | 795 | COSM132865, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P2699S | Substitution - Missense | 11:108335053-108335053, | PATHOGENIC | 0.98104 | 21993670 |
ATM | 795 | COSM132865, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P2699S | Substitution - Missense | 11:108335053-108335053, | PATHOGENIC | 0.98104 | 23091097 |
ATM | 795 | COSM1235443, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108259079-108259079, | PATHOGENIC | 0.98097 | 23407552 |
ATM | 795 | COSM6943812, | prostate | carcinoma | p.C353R | Substitution - Missense | 11:108247119-108247119, | PATHOGENIC | 0.9809 | 28481359 |
ATM | 795 | COSM21635, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I352T | Substitution - Missense | 11:108247117-108247117, | PATHOGENIC | 0.9809 | 10023947 |
ATM | 795 | COSM4990070, | urinary_tract | carcinoma | p.R1466P | Substitution - Missense | 11:108289762-108289762, | PATHOGENIC | 0.98089 | 28481359 |
ATM | 795 | COSM4990070, | skin | carcinoma | p.R1466P | Substitution - Missense | 11:108289762-108289762, | PATHOGENIC | 0.98089 | 25589618 |
ATM | 795 | COSM22528, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2004R | Substitution - Missense | 11:108315827-108315827, | PATHOGENIC | 0.98085 | 16461462 |
ATM | 795 | COSM21881, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S1770* | Substitution - Nonsense | 11:108301779-108301779, | PATHOGENIC | 0.98081 | 9334731 |
ATM | 795 | COSM6981860, | endometrium | carcinoma | p.D1637N | Substitution - Missense | 11:108295059-108295059, | PATHOGENIC | 0.98075 | 28481359 |
ATM | 795 | COSM6939439, | large_intestine | carcinoma | p.G2043S | Substitution - Missense | 11:108316042-108316042, | PATHOGENIC | 0.98045 | 28481359 |
ATM | 795 | COSM415356, | large_intestine | carcinoma | p.G1456D | Substitution - Missense | 11:108289732-108289732, | PATHOGENIC | 0.98041 | 28481359 |
ATM | 795 | COSM4745868, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.H290L | Substitution - Missense | 11:108244994-108244994, | PATHOGENIC | 0.98035 | 25480502 |
ATM | 795 | COSM2110619, | oesophagus | carcinoma | p.A2635G | Substitution - Missense | 11:108332877-108332877, | PATHOGENIC | 0.98035 | 24686850 |
ATM | 795 | COSM21679, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I2888T | Substitution - Missense | 11:108347357-108347357, | PATHOGENIC | 0.98031 | 25115387 |
ATM | 795 | COSM21679, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I2888T | Substitution - Missense | 11:108347357-108347357, | PATHOGENIC | 0.98031 | 23091097 |
ATM | 795 | COSM6926751, | urinary_tract | carcinoma | p.L2890P | Substitution - Missense | 11:108347363-108347363, | PATHOGENIC | 0.98031 | 28481359 |
ATM | 795 | COSM21679, | skin | malignant_melanoma | p.I2888T | Substitution - Missense | 11:108347357-108347357, | PATHOGENIC | 0.98031 | 28481359 |
ATM | 795 | COSM21679, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I2888T | Substitution - Missense | 11:108347357-108347357, | PATHOGENIC | 0.98031 | 12697903 |
ATM | 795 | COSM6926751, | NS | malignant_melanoma | p.L2890P | Substitution - Missense | 11:108347363-108347363, | PATHOGENIC | 0.98031 | 28481359 |
ATM | 795 | COSM21679, | lung | carcinoma | p.I2888T | Substitution - Missense | 11:108347357-108347357, | PATHOGENIC | 0.98031 | 28481359 |
ATM | 795 | COSM48242, | lung | carcinoma | p.S1905L | Substitution - Missense | 11:108307936-108307936, | PATHOGENIC | 0.98025 | 18948947 |
ATM | 795 | COSM1235438, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M1628K | Substitution - Missense | 11:108295033-108295033, | PATHOGENIC | 0.98017 | 23407552 |
ATM | 795 | COSM1644415, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2227C | Substitution - Missense | 11:108325416-108325416, | PATHOGENIC | 0.98014 | 25480502 |
ATM | 795 | COSM5546584, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W1221R | Substitution - Missense | 11:108282794-108282794, | PATHOGENIC | 0.98014 | 24920063 |
ATM | 795 | COSM6934232, | skin | carcinoma | p.E887K | Substitution - Missense | 11:108268430-108268430, | PATHOGENIC | 0.98014 | 28481359 |
ATM | 795 | COSM6955752, | lung | carcinoma | p.G757* | Substitution - Nonsense | 11:108257499-108257499, | PATHOGENIC | 0.98014 | 28481359 |
ATM | 795 | COSM4745888, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108303031-108303031, | PATHOGENIC | 0.98012 | 25480502 |
ATM | 795 | COSM21927, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E770* | Substitution - Nonsense | 11:108257538-108257538, | PATHOGENIC | 0.9801 | 16014569 |
ATM | 795 | COSM6929475, | lung | carcinoma | p.A1127S | Substitution - Missense | 11:108279585-108279585, | PATHOGENIC | 0.98008 | 28481359 |
ATM | 795 | COSM5008208, | lung | carcinoma | p.N2435K | Substitution - Missense | 11:108329236-108329236, | PATHOGENIC | 0.98003 | 28481359 |
ATM | 795 | COSM5008208, | large_intestine | carcinoma | p.N2435K | Substitution - Missense | 11:108329236-108329236, | PATHOGENIC | 0.98003 | 24951259 |
ATM | 795 | COSM6920393, | large_intestine | carcinoma | p.I2511T | Substitution - Missense | 11:108331460-108331460, | PATHOGENIC | 0.97987 | 28481359 |
ATM | 795 | COSM758335, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q2989* | Substitution - Nonsense | 11:108365196-108365196, | PATHOGENIC | 0.97979 | 23091097 |
ATM | 795 | COSM69745, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y2954C | Substitution - Missense | 11:108365092-108365092, | PATHOGENIC | 0.97975 | 29386642 |
ATM | 795 | COSM6854184, | large_intestine | carcinoma | p.F1813C | Substitution - Missense | 11:108302971-108302971, | PATHOGENIC | 0.97974 | 28978093 |
ATM | 795 | COSM6915144, | lung | carcinoma | p.H1624L | Substitution - Missense | 11:108295021-108295021, | PATHOGENIC | 0.97969 | 28481359 |
ATM | 795 | COSM1235440, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108315913-108315913, | PATHOGENIC | 0.97965 | 23407552 |
ATM | 795 | COSM21825, | NS | malignant_melanoma | p.V410A | Substitution - Missense | 11:108249096-108249096, | PATHOGENIC | 0.97964 | 25148578 |
ATM | 795 | COSM21825, | thyroid | carcinoma | p.V410A | Substitution - Missense | 11:108249096-108249096, | PATHOGENIC | 0.97964 | 28351340 |
ATM | 795 | COSM21825, | lung | carcinoma | p.V410A | Substitution - Missense | 11:108249096-108249096, | PATHOGENIC | 0.97964 | 26317919 |
ATM | 795 | COSM21825, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V410A | Substitution - Missense | 11:108249096-108249096, | PATHOGENIC | 0.97964 | 16631465 |
ATM | 795 | COSM6986876, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W412R | Substitution - Missense | 11:108249101-108249101, | PATHOGENIC | 0.97964 | 28481359 |
ATM | 795 | COSM21825, | NS | malignant_melanoma | p.V410A | Substitution - Missense | 11:108249096-108249096, | PATHOGENIC | 0.97964 | 25148578 |
ATM | 795 | COSM21825, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V410A | Substitution - Missense | 11:108249096-108249096, | PATHOGENIC | 0.97964 | 12697903 |
ATM | 795 | COSM21825, | NS | malignant_melanoma | p.V410A | Substitution - Missense | 11:108249096-108249096, | PATHOGENIC | 0.97964 | 25148578 |
ATM | 795 | COSM21825, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V410A | Substitution - Missense | 11:108249096-108249096, | PATHOGENIC | 0.97964 | 23091097 |
ATM | 795 | COSM5607885, | skin | malignant_melanoma | p.P2271S | Substitution - Missense | 11:108326061-108326061, | PATHOGENIC | 0.97959 | 26343386 |
ATM | 795 | COSM5607885, | skin | malignant_melanoma | p.P2271S | Substitution - Missense | 11:108326061-108326061, | PATHOGENIC | 0.97959 | 26343386 |
ATM | 795 | COSM6907304, | large_intestine | carcinoma | p.L1824H | Substitution - Missense | 11:108303004-108303004, | PATHOGENIC | 0.97915 | 29420467 |
ATM | 795 | COSM6916557, | biliary_tract | carcinoma | p.D894G | Substitution - Missense | 11:108268452-108268452, | PATHOGENIC | 0.97898 | 28481359 |
ATM | 795 | COSM6950852, | lung | carcinoma | p.V1913A | Substitution - Missense | 11:108307960-108307960, | PATHOGENIC | 0.97882 | 28481359 |
ATM | 795 | COSM758336, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M3011K | Substitution - Missense | 11:108365369-108365369, | PATHOGENIC | 0.97867 | 25480502 |
ATM | 795 | COSM758336, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M3011K | Substitution - Missense | 11:108365369-108365369, | PATHOGENIC | 0.97867 | 23091097 |
ATM | 795 | COSM21642, | NS | malignant_melanoma | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 25148578 |
ATM | 795 | COSM21642, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 24682267 |
ATM | 795 | COSM21642, | large_intestine | carcinoma | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 28481359 |
ATM | 795 | COSM21642, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 16461462 |
ATM | 795 | COSM21642, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 10706620 |
ATM | 795 | COSM21642, | large_intestine | carcinoma | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 28481359 |
ATM | 795 | COSM21642, | large_intestine | carcinoma | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 28481359 |
ATM | 795 | COSM21642, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 9334731 |
ATM | 795 | COSM6975420, | skin | malignant_melanoma | p.H1443Y | Substitution - Missense | 11:108289692-108289692, | PATHOGENIC | 0.97859 | 28481359 |
ATM | 795 | COSM21642, | large_intestine | carcinoma | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 28481359 |
ATM | 795 | COSM21642, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 23585524 |
ATM | 795 | COSM21642, | large_intestine | carcinoma | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 29029407 |
ATM | 795 | COSM21642, | small_intestine | carcinoma | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 26315110 |
ATM | 795 | COSM21642, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 16014569 |
ATM | 795 | COSM21642, | large_intestine | carcinoma | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 28481359 |
ATM | 795 | COSM21642, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3008C | Substitution - Missense | 11:108365359-108365359, | PATHOGENIC | 0.97859 | 25480502 |
ATM | 795 | COSM6965137, | pancreas | carcinoid-endocrine_tumour | p.N1719D | Substitution - Missense | 11:108299863-108299863, | PATHOGENIC | 0.97808 | 28481359 |
ATM | 795 | COSM2110488, | large_intestine | carcinoma | p.L1419I | Substitution - Missense | 11:108289620-108289620, | PATHOGENIC | 0.97795 | 24951259 |
ATM | 795 | COSM2110488, | large_intestine | carcinoma | p.L1419I | Substitution - Missense | 11:108289620-108289620, | PATHOGENIC | 0.97795 | 28481359 |
ATM | 795 | COSM6947501, | urinary_tract | carcinoma | p.M2357I | Substitution - Missense | 11:108327740-108327740, | PATHOGENIC | 0.97794 | 28481359 |
ATM | 795 | COSM6196822, | large_intestine | carcinoma | p.A1812V | Substitution - Missense | 11:108302968-108302968, | PATHOGENIC | 0.97791 | 27756406 |
ATM | 795 | COSM6196822, | large_intestine | carcinoma | p.A1812V | Substitution - Missense | 11:108302968-108302968, | PATHOGENIC | 0.97791 | 27756406 |
ATM | 795 | COSM1315814, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D1930V | Substitution - Missense | 11:108310186-108310186, | PATHOGENIC | 0.97767 | 23585524 |
ATM | 795 | COSM1183935, | lung | carcinoma | p.R1466Q | Substitution - Missense | 11:108289762-108289762, | PATHOGENIC | 0.97749 | 28481359 |
ATM | 795 | COSM1684710, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y1216H | Substitution - Missense | 11:108282779-108282779, | PATHOGENIC | 0.97736 | 23960188 |
ATM | 795 | COSM48240, | lung | carcinoma | p.R1086L | Substitution - Missense | 11:108272825-108272825, | PATHOGENIC | 0.97734 | 18948947 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | soft_tissue | haemangioblastoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 25589003 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | soft_tissue | haemangioblastoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 25589003 |
ATM | 795 | COSM41596, | breast | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 20177704 |
ATM | 795 | COSM41596, | breast | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 20177704 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | breast | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 20177704 |
ATM | 795 | COSM41596, | soft_tissue | haemangioblastoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 25589003 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | soft_tissue | haemangioblastoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 25589003 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | breast | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 20177704 |
ATM | 795 | COSM41596, | soft_tissue | leiomyosarcoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 28481359 |
ATM | 795 | COSM41596, | breast | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 20177704 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | soft_tissue | haemangioblastoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 25589003 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | breast | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 20177704 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | lung | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 28481359 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | soft_tissue | haemangioblastoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 25589003 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM41596, | breast | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 20177704 |
ATM | 795 | COSM41596, | soft_tissue | haemangioblastoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 25589003 |
ATM | 795 | COSM41596, | breast | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 20177704 |
ATM | 795 | COSM41596, | soft_tissue | haemangioblastoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 25589003 |
ATM | 795 | COSM41596, | breast | carcinoma | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 20177704 |
ATM | 795 | COSM41596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853N | Substitution - Missense | 11:108304735-108304735, | PATHOGENIC | 0.97729 | 27534895 |
ATM | 795 | COSM6987282, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2004P | Substitution - Missense | 11:108315827-108315827, | PATHOGENIC | 0.97711 | 28481359 |
ATM | 795 | COSM22505, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I2076S | Substitution - Missense | 11:108317401-108317401, | PATHOGENIC | 0.97707 | 12697903 |
ATM | 795 | COSM1168048, | lung | carcinoma | p.Q3014* | Substitution - Nonsense | 11:108365377-108365377, | PATHOGENIC | 0.97689 | 23262782 |
ATM | 795 | COSM6191481, | lung | carcinoma | p.L3035F | Substitution - Missense | 11:108365440-108365440, | PATHOGENIC | 0.97689 | 26645239 |
ATM | 795 | COSM4745881, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2419G | Substitution - Missense | 11:108329186-108329186, | PATHOGENIC | 0.97661 | 25480502 |
ATM | 795 | COSM22530, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2427R | Substitution - Missense | 11:108329211-108329211, | PATHOGENIC | 0.97647 | 16461462 |
ATM | 795 | COSM6931033, | kidney | carcinoma | p.G2496* | Substitution - Nonsense | 11:108330392-108330392, | PATHOGENIC | 0.97644 | 28481359 |
ATM | 795 | COSM6931033, | kidney | carcinoma | p.G2496* | Substitution - Nonsense | 11:108330392-108330392, | PATHOGENIC | 0.97644 | 28481359 |
ATM | 795 | COSM6950056, | bone | chordoma | p.Q1867E | Substitution - Missense | 11:108304777-108304777, | PATHOGENIC | 0.9763 | 28481359 |
ATM | 795 | COSM21643, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K750N | Substitution - Missense | 11:108256340-108256340, | PATHOGENIC | 0.97593 | 10706620 |
ATM | 795 | COSM5607891, | skin | malignant_melanoma | p.S334L | Substitution - Missense | 11:108247063-108247063, | PATHOGENIC | 0.97587 | 26343386 |
ATM | 795 | COSM6921708, | urinary_tract | carcinoma | p.K2803N | Substitution - Missense | 11:108343362-108343362, | PATHOGENIC | 0.97581 | 28481359 |
ATM | 795 | COSM22517, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L3017P | Substitution - Missense | 11:108365387-108365387, | PATHOGENIC | 0.97577 | 16461462 |
ATM | 795 | COSM5095513, | thymus | thymic_carcinoma | p.E2837K | Substitution - Missense | 11:108345833-108345833, | PATHOGENIC | 0.97551 | 24974848 |
ATM | 795 | COSM6985343, | breast | carcinoma | p.D2841N | Substitution - Missense | 11:108345845-108345845, | PATHOGENIC | 0.97551 | 28481359 |
ATM | 795 | COSM5095513, | lung | carcinoma | p.E2837K | Substitution - Missense | 11:108345833-108345833, | PATHOGENIC | 0.97551 | 28481359 |
ATM | 795 | COSM6935118, | soft_tissue | angiosarcoma | p.? | Unknown | 11:108302851-108302851, | PATHOGENIC | 0.97537 | 28481359 |
ATM | 795 | COSM6969521, | breast | carcinoma | p.E1800K | Substitution - Missense | 11:108302931-108302931, | PATHOGENIC | 0.97521 | 28481359 |
ATM | 795 | COSM22473, | lung | carcinoma | p.D1682H | Substitution - Missense | 11:108299752-108299752, | PATHOGENIC | 0.97511 | 28481359 |
ATM | 795 | COSM22473, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D1682H | Substitution - Missense | 11:108299752-108299752, | PATHOGENIC | 0.97511 | 9288106 |
ATM | 795 | COSM22473, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D1682H | Substitution - Missense | 11:108299752-108299752, | PATHOGENIC | 0.97511 | 23585524 |
ATM | 795 | COSM6907785, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2186V | Substitution - Missense | 11:108321405-108321405, | PATHOGENIC | 0.97509 | 29386642 |
ATM | 795 | COSM2110675, | NS | malignant_melanoma | p.W2845* | Substitution - Nonsense | 11:108345858-108345858, | PATHOGENIC | 0.97497 | 24336498 |
ATM | 795 | COSM2110675, | NS | malignant_melanoma | p.W2845* | Substitution - Nonsense | 11:108345858-108345858, | PATHOGENIC | 0.97497 | 24336498 |
ATM | 795 | COSM1350764, | large_intestine | carcinoma | p.R493C | Substitution - Missense | 11:108250942-108250942, | PATHOGENIC | 0.97487 | 28481359 |
ATM | 795 | COSM1350764, | large_intestine | carcinoma | p.R493C | Substitution - Missense | 11:108250942-108250942, | PATHOGENIC | 0.97487 | 28978093 |
ATM | 795 | COSM6907413, | urinary_tract | carcinoma | p.E2847Q | Substitution - Missense | 11:108345863-108345863, | PATHOGENIC | 0.97484 | 25225064 |
ATM | 795 | COSM6922119, | skin | malignant_melanoma | p.S1770L | Substitution - Missense | 11:108301779-108301779, | PATHOGENIC | 0.97481 | 28481359 |
ATM | 795 | COSM5024938, | breast | carcinoma | p.E738K | Substitution - Missense | 11:108256302-108256302, | PATHOGENIC | 0.97478 | 25850943 |
ATM | 795 | COSM20605, | stomach | carcinoma | p.S1179F | Substitution - Missense | 11:108281128-108281128, | PATHOGENIC | 0.97468 | Info_not_available |
ATM | 795 | COSM20605, | stomach | carcinoma | p.S1179F | Substitution - Missense | 11:108281128-108281128, | PATHOGENIC | 0.97468 | Info_not_available |
ATM | 795 | COSM6023799, | kidney | carcinoma | p.G2863R | Substitution - Missense | 11:108347281-108347281, | PATHOGENIC | 0.97458 | 26831717 |
ATM | 795 | COSM4990076, | skin | carcinoma | p.E2183K | Substitution - Missense | 11:108321395-108321395, | PATHOGENIC | 0.97442 | 25589618 |
ATM | 795 | COSM6971605, | pancreas | carcinoma | p.A2225T | Substitution - Missense | 11:108325410-108325410, | PATHOGENIC | 0.97437 | 28481359 |
ATM | 795 | COSM1315813, | large_intestine | carcinoma | p.Q1084* | Substitution - Nonsense | 11:108272818-108272818, | PATHOGENIC | 0.97424 | 28978093 |
ATM | 795 | COSM1315813, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q1084* | Substitution - Nonsense | 11:108272818-108272818, | PATHOGENIC | 0.97424 | 23585524 |
ATM | 795 | COSM1315813, | biliary_tract | carcinoma | p.Q1084* | Substitution - Nonsense | 11:108272818-108272818, | PATHOGENIC | 0.97424 | 29360550 |
ATM | 795 | COSM1315813, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q1084* | Substitution - Nonsense | 11:108272818-108272818, | PATHOGENIC | 0.97424 | 25480502 |
ATM | 795 | COSM6907639, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q1982K | Substitution - Missense | 11:108312436-108312436, | PATHOGENIC | 0.97423 | 29386642 |
ATM | 795 | COSM6969359, | lung | carcinoma | p.S1893* | Substitution - Nonsense | 11:108307900-108307900, | PATHOGENIC | 0.97412 | 28481359 |
ATM | 795 | COSM21628, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853V | Substitution - Missense | 11:108304736-108304736, | PATHOGENIC | 0.97398 | 27534895 |
ATM | 795 | COSM21628, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853V | Substitution - Missense | 11:108304736-108304736, | PATHOGENIC | 0.97398 | 27534895 |
ATM | 795 | COSM21628, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D1853V | Substitution - Missense | 11:108304736-108304736, | PATHOGENIC | 0.97398 | 10397742 |
ATM | 795 | COSM21628, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D1853V | Substitution - Missense | 11:108304736-108304736, | PATHOGENIC | 0.97398 | 27534895 |
ATM | 795 | COSM6908561, | upper_aerodigestive_tract | carcinoma | p.E2374* | Substitution - Nonsense | 11:108329051-108329051, | PATHOGENIC | 0.97395 | 28581676 |
ATM | 795 | COSM4745882, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2452V | Substitution - Missense | 11:108330260-108330260, | PATHOGENIC | 0.97373 | 25480502 |
ATM | 795 | COSM6854279, | large_intestine | carcinoma | p.? | Unknown | 11:108287598-108287598, | PATHOGENIC | 0.97368 | 28978093 |
ATM | 795 | COSM4745876, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.H1474D | Substitution - Missense | 11:108289785-108289785, | PATHOGENIC | 0.97367 | 25480502 |
ATM | 795 | COSM6904454, | lung | carcinoma | p.R924Q | Substitution - Missense | 11:108268542-108268542, | PATHOGENIC | 0.97348 | 27105424 |
ATM | 795 | COSM6904454, | skin | carcinoma | p.R924Q | Substitution - Missense | 11:108268542-108268542, | PATHOGENIC | 0.97348 | 28481359 |
ATM | 795 | COSM6904454, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R924Q | Substitution - Missense | 11:108268542-108268542, | PATHOGENIC | 0.97348 | 28481359 |
ATM | 795 | COSM2110623, | skin | malignant_melanoma | p.P2648S | Substitution - Missense | 11:108333900-108333900, | PATHOGENIC | 0.97341 | 28481359 |
ATM | 795 | COSM5731191, | small_intestine | carcinoma | p.G2869V | Substitution - Missense | 11:108347300-108347300, | PATHOGENIC | 0.97339 | 26315110 |
ATM | 795 | COSM21920, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D1682Y | Substitution - Missense | 11:108299752-108299752, | PATHOGENIC | 0.97327 | 16014569 |
ATM | 795 | COSM21920, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D1682Y | Substitution - Missense | 11:108299752-108299752, | PATHOGENIC | 0.97327 | 16014569 |
ATM | 795 | COSM6917645, | breast | carcinoma | p.E2145* | Substitution - Nonsense | 11:108320039-108320039, | PATHOGENIC | 0.9731 | 28481359 |
ATM | 795 | COSM2110671, | large_intestine | carcinoma | p.R2832H | Substitution - Missense | 11:108345819-108345819, | PATHOGENIC | 0.97286 | 28481359 |
ATM | 795 | COSM2110671, | lung | carcinoma | p.R2832H | Substitution - Missense | 11:108345819-108345819, | PATHOGENIC | 0.97286 | 28481359 |
ATM | 795 | COSM5371585, | lung | carcinoma | p.Q1015* | Substitution - Nonsense | 11:108271372-108271372, | PATHOGENIC | 0.97283 | 28481359 |
ATM | 795 | COSM5371585, | lung | carcinoma | p.Q1015* | Substitution - Nonsense | 11:108271372-108271372, | PATHOGENIC | 0.97283 | 28481359 |
ATM | 795 | COSM922745, | skin | malignant_melanoma | p.R2691C | Substitution - Missense | 11:108335029-108335029, | PATHOGENIC | 0.97271 | 28481359 |
ATM | 795 | COSM922745, | endometrium | carcinoma | p.R2691C | Substitution - Missense | 11:108335029-108335029, | PATHOGENIC | 0.97271 | 28481359 |
ATM | 795 | COSM21935, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T1743I | Substitution - Missense | 11:108301698-108301698, | PATHOGENIC | 0.97237 | 16014569 |
ATM | 795 | COSM6995448, | ovary | germ_cell_tumour | p.E1051Q | Substitution - Missense | 11:108272605-108272605, | PATHOGENIC | 0.97236 | 28954785 |
ATM | 795 | COSM3724459, | prostate | carcinoma | p.L806W | Substitution - Missense | 11:108259026-108259026, | PATHOGENIC | 0.97218 | 28481359 |
ATM | 795 | COSM3724459, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L806W | Substitution - Missense | 11:108259026-108259026, | PATHOGENIC | 0.97218 | 24584352 |
ATM | 795 | COSM3724459, | prostate | carcinoma | p.L806W | Substitution - Missense | 11:108259026-108259026, | PATHOGENIC | 0.97218 | 28481359 |
ATM | 795 | COSM6934731, | breast | carcinoma | p.L186* | Substitution - Nonsense | 11:108244013-108244013, | PATHOGENIC | 0.9721 | 28481359 |
ATM | 795 | COSM3724458, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q374* | Substitution - Nonsense | 11:108248987-108248987, | PATHOGENIC | 0.97209 | 24584352 |
ATM | 795 | COSM1315817, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2427P | Substitution - Missense | 11:108329211-108329211, | PATHOGENIC | 0.97175 | 23585524 |
ATM | 795 | COSM1315817, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2427P | Substitution - Missense | 11:108329211-108329211, | PATHOGENIC | 0.97175 | 25480502 |
ATM | 795 | COSM6911431, | lung | carcinoma | p.Q91* | Substitution - Nonsense | 11:108229263-108229263, | PATHOGENIC | 0.97154 | 28481359 |
ATM | 795 | COSM6980549, | kidney | carcinoma | p.L807* | Substitution - Nonsense | 11:108259029-108259029, | PATHOGENIC | 0.97076 | 28481359 |
ATM | 795 | COSM5575547, | ovary | carcinoma | p.Q2942* | Substitution - Nonsense | 11:108354848-108354848, | PATHOGENIC | 0.97047 | 25846551 |
ATM | 795 | COSM6939453, | lung | carcinoma | p.D203N | Substitution - Missense | 11:108244063-108244063, | PATHOGENIC | 0.97042 | 28481359 |
ATM | 795 | COSM922742, | skin | malignant_melanoma | p.R2598* | Substitution - Nonsense | 11:108332765-108332765, | PATHOGENIC | 0.97029 | 28481359 |
ATM | 795 | COSM3733272, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L885* | Substitution - Nonsense | 11:108268425-108268425, | PATHOGENIC | 0.97029 | 24682267 |
ATM | 795 | COSM922742, | breast | carcinoma | p.R2598* | Substitution - Nonsense | 11:108332765-108332765, | PATHOGENIC | 0.97029 | 28481359 |
ATM | 795 | COSM922742, | large_intestine | carcinoma | p.R2598* | Substitution - Nonsense | 11:108332765-108332765, | PATHOGENIC | 0.97029 | 28481359 |
ATM | 795 | COSM6964296, | stomach | carcinoma | p.? | Unknown | 11:108347278-108347278, | PATHOGENIC | 0.97016 | 28481359 |
ATM | 795 | COSM21929, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2867E | Substitution - Missense | 11:108347294-108347294, | PATHOGENIC | 0.97016 | 16014569 |
ATM | 795 | COSM21929, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G2867E | Substitution - Missense | 11:108347294-108347294, | PATHOGENIC | 0.97016 | 16014569 |
ATM | 795 | COSM6986286, | central_nervous_system | other | p.R2105S | Substitution - Missense | 11:108317489-108317489, | PATHOGENIC | 0.97008 | 28481359 |
ATM | 795 | COSM1235415, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108289802-108289802, | PATHOGENIC | 0.96988 | 23407552 |
ATM | 795 | COSM12950, | lung | carcinoma | p.P2842R | Substitution - Missense | 11:108345849-108345849, | PATHOGENIC | 0.96983 | 16140923 |
ATM | 795 | COSM12950, | lung | carcinoma | p.P2842R | Substitution - Missense | 11:108345849-108345849, | PATHOGENIC | 0.96983 | 16140923 |
ATM | 795 | COSM6949529, | breast | carcinoma | p.E574K | Substitution - Missense | 11:108251949-108251949, | PATHOGENIC | 0.9698 | 28481359 |
ATM | 795 | COSM6979040, | lung | carcinoma | p.? | Unknown | 11:108292795-108292795, | PATHOGENIC | 0.96975 | 28481359 |
ATM | 795 | COSM4745867, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q95* | Substitution - Nonsense | 11:108229275-108229275, | PATHOGENIC | 0.96929 | 25480502 |
ATM | 795 | COSM6981395, | breast | carcinoma | p.R1575H | Substitution - Missense | 11:108293425-108293425, | PATHOGENIC | 0.96915 | 28481359 |
ATM | 795 | COSM428365, | thyroid | carcinoma | p.R2993* | Substitution - Nonsense | 11:108365208-108365208, | PATHOGENIC | 0.969 | 25862857 |
ATM | 795 | COSM428365, | large_intestine | carcinoma | p.R2993* | Substitution - Nonsense | 11:108365208-108365208, | PATHOGENIC | 0.969 | 28978093 |
ATM | 795 | COSM428365, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2993* | Substitution - Nonsense | 11:108365208-108365208, | PATHOGENIC | 0.969 | 24682267 |
ATM | 795 | COSM428365, | large_intestine | carcinoma | p.R2993* | Substitution - Nonsense | 11:108365208-108365208, | PATHOGENIC | 0.969 | 28481359 |
ATM | 795 | COSM428365, | large_intestine | carcinoma | p.R2993* | Substitution - Nonsense | 11:108365208-108365208, | PATHOGENIC | 0.969 | 24951259 |
ATM | 795 | COSM6853969, | large_intestine | carcinoma | p.M2384V | Substitution - Missense | 11:108329081-108329081, | PATHOGENIC | 0.96871 | 28978093 |
ATM | 795 | COSM6958897, | large_intestine | carcinoma | p.K687E | Substitution - Missense | 11:108253974-108253974, | PATHOGENIC | 0.96867 | 28481359 |
ATM | 795 | COSM7325226, | biliary_tract | carcinoma | p.H42R | Substitution - Missense | 11:108227828-108227828, | PATHOGENIC | 0.96865 | 29360550 |
ATM | 795 | COSM1315833, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K293* | Substitution - Nonsense | 11:108245002-108245002, | PATHOGENIC | 0.96863 | 23585524 |
ATM | 795 | COSM3733228, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2544P | Substitution - Missense | 11:108331880-108331880, | PATHOGENIC | 0.96859 | 24682267 |
ATM | 795 | COSM6911775, | testis | germ_cell_tumour | p.K1280Q | Substitution - Missense | 11:108284318-108284318, | PATHOGENIC | 0.96857 | 28481359 |
ATM | 795 | COSM21918, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A1742P | Substitution - Missense | 11:108301694-108301694, | PATHOGENIC | 0.96854 | 16014569 |
ATM | 795 | COSM21918, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A1742P | Substitution - Missense | 11:108301694-108301694, | PATHOGENIC | 0.96854 | 16014569 |
ATM | 795 | COSM1183939, | prostate | carcinoma | p.N2875S | Substitution - Missense | 11:108347318-108347318, | PATHOGENIC | 0.96852 | 28481359 |
ATM | 795 | COSM4774829, | breast | carcinoma | p.E649Q | Substitution - Missense | 11:108253860-108253860, | PATHOGENIC | 0.96847 | 24185512 |
ATM | 795 | COSM6943570, | urinary_tract | carcinoma | p.T2853A | Substitution - Missense | 11:108345881-108345881, | PATHOGENIC | 0.968 | 28481359 |
ATM | 795 | COSM6916879, | central_nervous_system | glioma | p.G1202E | Substitution - Missense | 11:108282738-108282738, | PATHOGENIC | 0.9679 | 28481359 |
ATM | 795 | COSM6945077, | lung | carcinoma | p.Q218* | Substitution - Nonsense | 11:108244108-108244108, | PATHOGENIC | 0.96729 | 28481359 |
ATM | 795 | COSM6945077, | lung | carcinoma | p.Q218* | Substitution - Nonsense | 11:108244108-108244108, | PATHOGENIC | 0.96729 | 28481359 |
ATM | 795 | COSM6196823, | large_intestine | carcinoma | p.P1829S | Substitution - Missense | 11:108303018-108303018, | PATHOGENIC | 0.96663 | 27756406 |
ATM | 795 | COSM6935416, | endometrium | carcinoma | p.F2299L | Substitution - Missense | 11:108326147-108326147, | PATHOGENIC | 0.96661 | 28481359 |
ATM | 795 | COSM2110414, | large_intestine | carcinoma | p.S974F | Substitution - Missense | 11:108271146-108271146, | PATHOGENIC | 0.96659 | 24951259 |
ATM | 795 | COSM2110414, | biliary_tract | carcinoma | p.S974F | Substitution - Missense | 11:108271146-108271146, | PATHOGENIC | 0.96659 | 29360550 |
ATM | 795 | COSM2110414, | endometrium | carcinoma | p.S974F | Substitution - Missense | 11:108271146-108271146, | PATHOGENIC | 0.96659 | 28481359 |
ATM | 795 | COSM758330, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.H2480Y | Substitution - Missense | 11:108330344-108330344, | PATHOGENIC | 0.96629 | 23091097 |
ATM | 795 | COSM758330, | ovary | carcinoma | p.H2480Y | Substitution - Missense | 11:108330344-108330344, | PATHOGENIC | 0.96629 | 25846551 |
ATM | 795 | COSM5020989, | soft_tissue | haemangioblastoma | p.F1463C | Substitution - Missense | 11:108289753-108289753, | PATHOGENIC | 0.96583 | 25589003 |
ATM | 795 | COSM5009756, | large_intestine | carcinoma | p.? | Unknown | 11:108227697-108227697, | PATHOGENIC | 0.9657 | 24951259 |
ATM | 795 | COSM6196828, | large_intestine | carcinoma | p.L1708F | Substitution - Missense | 11:108299830-108299830, | PATHOGENIC | 0.96565 | 27756406 |
ATM | 795 | COSM1730103, | central_nervous_system | glioma | p.D18N | Substitution - Missense | 11:108227676-108227676, | PATHOGENIC | 0.96552 | 28481359 |
ATM | 795 | COSM24630, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I1407S | Substitution - Missense | 11:108289087-108289087, | PATHOGENIC | 0.9652 | 12149228 |
ATM | 795 | COSM6959143, | large_intestine | carcinoma | p.H2872D | Substitution - Missense | 11:108347308-108347308, | PATHOGENIC | 0.96456 | 28481359 |
ATM | 795 | COSM6965566, | lung | carcinoma | p.E888K | Substitution - Missense | 11:108268433-108268433, | PATHOGENIC | 0.96428 | 28481359 |
ATM | 795 | COSM6067449, | lung | carcinoma | p.Q628* | Substitution - Nonsense | 11:108252896-108252896, | PATHOGENIC | 0.96425 | 28481359 |
ATM | 795 | COSM6980117, | lung | carcinoma | p.E1724K | Substitution - Missense | 11:108299878-108299878, | PATHOGENIC | 0.96422 | 28481359 |
ATM | 795 | COSM6948541, | lung | carcinoma | p.Q1636E | Substitution - Missense | 11:108295056-108295056, | PATHOGENIC | 0.96421 | 28481359 |
ATM | 795 | COSM1350782, | large_intestine | carcinoma | p.L612I | Substitution - Missense | 11:108252848-108252848, | PATHOGENIC | 0.9641 | 27756406 |
ATM | 795 | COSM1235433, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P2842L | Substitution - Missense | 11:108345849-108345849, | PATHOGENIC | 0.96353 | 23407552 |
ATM | 795 | COSM6919286, | large_intestine | carcinoma | p.L653I | Substitution - Missense | 11:108253872-108253872, | PATHOGENIC | 0.96298 | 28481359 |
ATM | 795 | COSM6919286, | large_intestine | carcinoma | p.L653I | Substitution - Missense | 11:108253872-108253872, | PATHOGENIC | 0.96298 | 28481359 |
ATM | 795 | COSM6984508, | endometrium | carcinoma | p.E2052K | Substitution - Missense | 11:108316069-108316069, | PATHOGENIC | 0.96298 | 28481359 |
ATM | 795 | COSM6919292, | large_intestine | carcinoma | p.S2859Y | Substitution - Missense | 11:108345900-108345900, | PATHOGENIC | 0.96287 | 28481359 |
ATM | 795 | COSM3733240, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R447* | Substitution - Nonsense | 11:108250804-108250804, | PATHOGENIC | 0.96284 | 24682267 |
ATM | 795 | COSM6907414, | urinary_tract | carcinoma | p.Q1636* | Substitution - Nonsense | 11:108295056-108295056, | PATHOGENIC | 0.96271 | 25225064 |
ATM | 795 | COSM6907414, | urinary_tract | carcinoma | p.Q1636* | Substitution - Nonsense | 11:108295056-108295056, | PATHOGENIC | 0.96271 | 28481359 |
ATM | 795 | COSM6907414, | skin | malignant_melanoma | p.Q1636* | Substitution - Nonsense | 11:108295056-108295056, | PATHOGENIC | 0.96271 | 28481359 |
ATM | 795 | COSM6910285, | lung | carcinoma | p.Q2399R | Substitution - Missense | 11:108329127-108329127, | PATHOGENIC | 0.96269 | 28481359 |
ATM | 795 | COSM6910285, | breast | carcinoma | p.Q2399R | Substitution - Missense | 11:108329127-108329127, | PATHOGENIC | 0.96269 | 28481359 |
ATM | 795 | COSM6910285, | lung | carcinoma | p.Q2399R | Substitution - Missense | 11:108329127-108329127, | PATHOGENIC | 0.96269 | 28481359 |
ATM | 795 | COSM12794, | lung | carcinoma | p.E2052* | Substitution - Nonsense | 11:108316069-108316069, | PATHOGENIC | 0.96239 | 16140923 |
ATM | 795 | COSM12794, | lung | carcinoma | p.E2052* | Substitution - Nonsense | 11:108316069-108316069, | PATHOGENIC | 0.96239 | 16140923 |
ATM | 795 | COSM5546641, | breast | carcinoma | p.K1323* | Substitution - Nonsense | 11:108284447-108284447, | PATHOGENIC | 0.96227 | 26527317 |
ATM | 795 | COSM6917128, | breast | carcinoma | p.M2667L | Substitution - Missense | 11:108333957-108333957, | PATHOGENIC | 0.96214 | 28481359 |
ATM | 795 | COSM5575569, | ovary | carcinoma | p.G1586R | Substitution - Missense | 11:108293457-108293457, | PATHOGENIC | 0.96156 | 25846551 |
ATM | 795 | COSM22470, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I1407T | Substitution - Missense | 11:108289087-108289087, | PATHOGENIC | 0.96121 | 9288106 |
ATM | 795 | COSM22487, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F1463L | Substitution - Missense | 11:108289752-108289752, | PATHOGENIC | 0.96104 | 9288106 |
ATM | 795 | COSM22502, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F1463S | Substitution - Missense | 11:108289753-108289753, | PATHOGENIC | 0.96104 | 12697903 |
ATM | 795 | COSM214125, | pancreas | carcinoid-endocrine_tumour | p.Q513* | Substitution - Nonsense | 11:108251002-108251002, | PATHOGENIC | 0.96099 | 27994516 |
ATM | 795 | COSM1235425, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S2259Y | Substitution - Missense | 11:108325513-108325513, | PATHOGENIC | 0.96096 | 23407552 |
ATM | 795 | COSM6941278, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R1730Q | Substitution - Missense | 11:108301659-108301659, | PATHOGENIC | 0.96077 | 28481359 |
ATM | 795 | COSM6854224, | large_intestine | carcinoma | p.D2240A | Substitution - Missense | 11:108325456-108325456, | PATHOGENIC | 0.96074 | 28978093 |
ATM | 795 | COSM6909379, | ovary | germ_cell_tumour | p.L2965F | Substitution - Missense | 11:108365126-108365126, | PATHOGENIC | 0.96013 | 28481359 |
ATM | 795 | COSM5022504, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2945M | Substitution - Missense | 11:108354857-108354857, | PATHOGENIC | 0.96012 | 25743686 |
ATM | 795 | COSM6959475, | central_nervous_system | glioma | p.V2355I | Substitution - Missense | 11:108327732-108327732, | PATHOGENIC | 0.95908 | 28481359 |
ATM | 795 | COSM2110628, | lung | carcinoma | p.T2674R | Substitution - Missense | 11:108334979-108334979, | PATHOGENIC | 0.95865 | 28481359 |
ATM | 795 | COSM6948922, | endometrium | carcinoma | p.Q1653* | Substitution - Nonsense | 11:108297334-108297334, | PATHOGENIC | 0.95787 | 28481359 |
ATM | 795 | COSM22499, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P604S | Substitution - Missense | 11:108252824-108252824, | PATHOGENIC | 0.95731 | 12697903 |
ATM | 795 | COSM22499, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P604S | Substitution - Missense | 11:108252824-108252824, | PATHOGENIC | 0.95731 | 16461462 |
ATM | 795 | COSM22499, | central_nervous_system | glioma | p.P604S | Substitution - Missense | 11:108252824-108252824, | PATHOGENIC | 0.95731 | 24695838 |
ATM | 795 | COSM22499, | thyroid | carcinoma | p.P604S | Substitution - Missense | 11:108252824-108252824, | PATHOGENIC | 0.95731 | 28351340 |
ATM | 795 | COSM22499, | ovary | carcinoma | p.P604S | Substitution - Missense | 11:108252824-108252824, | PATHOGENIC | 0.95731 | 25846456 |
ATM | 795 | COSM22499, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P604S | Substitution - Missense | 11:108252824-108252824, | PATHOGENIC | 0.95731 | 12697903 |
ATM | 795 | COSM22499, | NS | malignant_melanoma | p.P604S | Substitution - Missense | 11:108252824-108252824, | PATHOGENIC | 0.95731 | 25148578 |
ATM | 795 | COSM22499, | soft_tissue | haemangioblastoma | p.P604S | Substitution - Missense | 11:108252824-108252824, | PATHOGENIC | 0.95731 | 25589003 |
ATM | 795 | COSM22499, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P604S | Substitution - Missense | 11:108252824-108252824, | PATHOGENIC | 0.95731 | 12149228 |
ATM | 795 | COSM132864, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I826L | Substitution - Missense | 11:108267180-108267180, | PATHOGENIC | 0.95715 | 21993670 |
ATM | 795 | COSM1351064, | endometrium | carcinoma | p.R3047Q | Substitution - Missense | 11:108365477-108365477, | PATHOGENIC | 0.95683 | 28481359 |
ATM | 795 | COSM4990092, | skin | carcinoma | p.L2868F | Substitution - Missense | 11:108347296-108347296, | PATHOGENIC | 0.95654 | 25589618 |
ATM | 795 | COSM6935410, | endometrium | carcinoma | p.V716A | Substitution - Missense | 11:108256237-108256237, | PATHOGENIC | 0.95631 | 28481359 |
ATM | 795 | COSM22511, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S2859F | Substitution - Missense | 11:108345900-108345900, | PATHOGENIC | 0.95625 | 16461462 |
ATM | 795 | COSM22511, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S2859F | Substitution - Missense | 11:108345900-108345900, | PATHOGENIC | 0.95625 | 24920063 |
ATM | 795 | COSM6606833, | large_intestine | carcinoma | p.R2854C | Substitution - Missense | 11:108345884-108345884, | PATHOGENIC | 0.95625 | 28481359 |
ATM | 795 | COSM6493980, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L1555H | Substitution - Missense | 11:108293365-108293365, | PATHOGENIC | 0.95601 | 27534895 |
ATM | 795 | COSM6854000, | large_intestine | carcinoma | p.G2024E | Substitution - Missense | 11:108315887-108315887, | PATHOGENIC | 0.95588 | 28978093 |
ATM | 795 | COSM6907374, | large_intestine | carcinoma | p.R1489C | Substitution - Missense | 11:108292647-108292647, | PATHOGENIC | 0.95557 | 28481359 |
ATM | 795 | COSM6907374, | soft_tissue | leiomyoma | p.R1489C | Substitution - Missense | 11:108292647-108292647, | PATHOGENIC | 0.95557 | 29484624 |
ATM | 795 | COSM5575318, | ovary | carcinoma | p.C1177Y | Substitution - Missense | 11:108281122-108281122, | PATHOGENIC | 0.95545 | 25846551 |
ATM | 795 | COSM758344, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2443G | Substitution - Missense | 11:108330233-108330233, | PATHOGENIC | 0.95528 | 23091097 |
ATM | 795 | COSM6969476, | endometrium | carcinoma | p.Q1839* | Substitution - Nonsense | 11:108304693-108304693, | PATHOGENIC | 0.95471 | 28481359 |
ATM | 795 | COSM466273, | large_intestine | carcinoma | p.N2994S | Substitution - Missense | 11:108365212-108365212, | PATHOGENIC | 0.9546 | 28481359 |
ATM | 795 | COSM6854121, | large_intestine | carcinoma | p.A1272D | Substitution - Missense | 11:108284295-108284295, | PATHOGENIC | 0.95458 | 28978093 |
ATM | 795 | COSM6914038, | endometrium | carcinoma | p.A1911V | Substitution - Missense | 11:108307954-108307954, | PATHOGENIC | 0.95424 | 28481359 |
ATM | 795 | COSM6196807, | large_intestine | carcinoma | p.P1766L | Substitution - Missense | 11:108301767-108301767, | PATHOGENIC | 0.9542 | 27756406 |
ATM | 795 | COSM6936609, | skin | malignant_melanoma | p.S698L | Substitution - Missense | 11:108254008-108254008, | PATHOGENIC | 0.95375 | 28481359 |
ATM | 795 | COSM6916641, | salivary_gland | carcinoma | p.L1647P | Substitution - Missense | 11:108297317-108297317, | PATHOGENIC | 0.95357 | 28481359 |
ATM | 795 | COSM6854456, | large_intestine | carcinoma | p.I2865T | Substitution - Missense | 11:108347288-108347288, | PATHOGENIC | 0.95349 | 28978093 |
ATM | 795 | COSM1235429, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A2067D | Substitution - Missense | 11:108317374-108317374, | PATHOGENIC | 0.953 | 23407552 |
ATM | 795 | COSM1235399, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L822* | Substitution - Nonsense | 11:108259074-108259074, | PATHOGENIC | 0.95252 | 23407552 |
ATM | 795 | COSM1235439, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D1226G | Substitution - Missense | 11:108282810-108282810, | PATHOGENIC | 0.95239 | 23407552 |
ATM | 795 | COSM5341382, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R457* | Substitution - Nonsense | 11:108250834-108250834, | PATHOGENIC | 0.9521 | 29386642 |
ATM | 795 | COSM6201645, | kidney | carcinoma | p.E848* | Substitution - Nonsense | 11:108267246-108267246, | PATHOGENIC | 0.95204 | 26895810 |
ATM | 795 | COSM6947966, | breast | carcinoma | p.V1729L | Substitution - Missense | 11:108301655-108301655, | PATHOGENIC | 0.95177 | 28481359 |
ATM | 795 | COSM21323, | skin | malignant_melanoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | salivary_gland | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 27334835 |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | Info_not_available |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | urinary_tract | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | NS | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 27322425 |
ATM | 795 | COSM21323, | thymus | thymic_carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 27844328 |
ATM | 795 | COSM21323, | breast | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 22420423 |
ATM | 795 | COSM21323, | salivary_gland | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 23778141 |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | NS | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 24951259 |
ATM | 795 | COSM21323, | endometrium | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | skin | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | lung | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | penis | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | salivary_gland | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | Info_not_available |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM21323, | salivary_gland | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 27334835 |
ATM | 795 | COSM21323, | large_intestine | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | Info_not_available |
ATM | 795 | COSM21323, | endometrium | carcinoma | p.R337C | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.95148 | 28481359 |
ATM | 795 | COSM22489, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2486G | Substitution - Missense | 11:108330362-108330362, | PATHOGENIC | 0.95123 | 9573030 |
ATM | 795 | COSM6986369, | thyroid | carcinoma | p.C1873Y | Substitution - Missense | 11:108304796-108304796, | PATHOGENIC | 0.95119 | 28481359 |
ATM | 795 | COSM6917468, | thyroid | carcinoma | p.L1737F | Substitution - Missense | 11:108301681-108301681, | PATHOGENIC | 0.95057 | 28481359 |
ATM | 795 | COSM6943052, | skin | malignant_melanoma | p.K2811N | Substitution - Missense | 11:108345757-108345757, | PATHOGENIC | 0.95051 | 28481359 |
ATM | 795 | COSM346969, | lung | carcinoma | p.G1663V | Substitution - Missense | 11:108297365-108297365, | PATHOGENIC | 0.9503 | 28481359 |
ATM | 795 | COSM5575330, | ovary | carcinoma | p.Q1825K | Substitution - Missense | 11:108303006-108303006, | PATHOGENIC | 0.94985 | 25846551 |
ATM | 795 | COSM1235446, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W1026* | Substitution - Nonsense | 11:108272532-108272532, | PATHOGENIC | 0.94983 | 23407552 |
ATM | 795 | COSM6986083, | endometrium | carcinoma | p.Q2593R | Substitution - Missense | 11:108332027-108332027, | PATHOGENIC | 0.94916 | 28481359 |
ATM | 795 | COSM5019801, | soft_tissue | haemangioblastoma | p.L2307F | Substitution - Missense | 11:108326169-108326169, | PATHOGENIC | 0.9491 | 25589003 |
ATM | 795 | COSM5019801, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2307F | Substitution - Missense | 11:108326169-108326169, | PATHOGENIC | 0.9491 | 27248180 |
ATM | 795 | COSM48243, | lung | carcinoma | p.S2375I | Substitution - Missense | 11:108329055-108329055, | PATHOGENIC | 0.94906 | 18948947 |
ATM | 795 | COSM6921686, | prostate | carcinoma | p.P1378S | Substitution - Missense | 11:108288999-108288999, | PATHOGENIC | 0.9487 | 28481359 |
ATM | 795 | COSM6196834, | large_intestine | carcinoma | p.K1828E | Substitution - Missense | 11:108303015-108303015, | PATHOGENIC | 0.94865 | 27756406 |
ATM | 795 | COSM6493974, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L944R | Substitution - Missense | 11:108268602-108268602, | PATHOGENIC | 0.94864 | 27534895 |
ATM | 795 | COSM21678, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2443* | Substitution - Nonsense | 11:108330233-108330233, | PATHOGENIC | 0.94846 | 12697903 |
ATM | 795 | COSM21678, | skin | carcinoma | p.R2443* | Substitution - Nonsense | 11:108330233-108330233, | PATHOGENIC | 0.94846 | 28984303 |
ATM | 795 | COSM21678, | skin | carcinoma | p.R2443* | Substitution - Nonsense | 11:108330233-108330233, | PATHOGENIC | 0.94846 | 28984303 |
ATM | 795 | COSM6935408, | endometrium | carcinoma | p.A88V | Substitution - Missense | 11:108229255-108229255, | PATHOGENIC | 0.94803 | 28481359 |
ATM | 795 | COSM309332, | lung | carcinoma | p.Q1867P | Substitution - Missense | 11:108304778-108304778, | PATHOGENIC | 0.9476 | 22941188 |
ATM | 795 | COSM1506644, | large_intestine | carcinoma | p.R248* | Substitution - Nonsense | 11:108244867-108244867, | PATHOGENIC | 0.94757 | 28481359 |
ATM | 795 | COSM1506644, | urinary_tract | carcinoma | p.R248* | Substitution - Nonsense | 11:108244867-108244867, | PATHOGENIC | 0.94757 | 28481359 |
ATM | 795 | COSM6948354, | pancreas | carcinoma | p.Q1627H | Substitution - Missense | 11:108295031-108295031, | PATHOGENIC | 0.94741 | 28481359 |
ATM | 795 | COSM5607899, | skin | malignant_melanoma | p.T1997I | Substitution - Missense | 11:108312482-108312482, | PATHOGENIC | 0.94701 | 26343386 |
ATM | 795 | COSM6853926, | large_intestine | carcinoma | p.S1891S | Substitution - coding silent | 11:108304851-108304851, | PATHOGENIC | 0.94695 | 28978093 |
ATM | 795 | COSM6937140, | central_nervous_system | glioma | p.R1859K | Substitution - Missense | 11:108304754-108304754, | PATHOGENIC | 0.94693 | 28481359 |
ATM | 795 | COSM1297617, | upper_aerodigestive_tract | carcinoma | p.Q3000H | Substitution - Missense | 11:108365337-108365337, | PATHOGENIC | 0.94656 | 28481359 |
ATM | 795 | COSM5009759, | large_intestine | carcinoma | p.N1595H | Substitution - Missense | 11:108294933-108294933, | PATHOGENIC | 0.94623 | 24951259 |
ATM | 795 | COSM6911254, | large_intestine | carcinoma | p.P1639L | Substitution - Missense | 11:108297293-108297293, | PATHOGENIC | 0.94621 | 28481359 |
ATM | 795 | COSM6975655, | lung | carcinoma | p.K952N | Substitution - Missense | 11:108271081-108271081, | PATHOGENIC | 0.94577 | 28481359 |
ATM | 795 | COSM22507, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A1309T | Substitution - Missense | 11:108284405-108284405, | PATHOGENIC | 0.94534 | 12697903 |
ATM | 795 | COSM22507, | NS | malignant_melanoma | p.A1309T | Substitution - Missense | 11:108284405-108284405, | PATHOGENIC | 0.94534 | 25148578 |
ATM | 795 | COSM22507, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A1309T | Substitution - Missense | 11:108284405-108284405, | PATHOGENIC | 0.94534 | 27534895 |
ATM | 795 | COSM22507, | NS | malignant_melanoma | p.A1309T | Substitution - Missense | 11:108284405-108284405, | PATHOGENIC | 0.94534 | 25148578 |
ATM | 795 | COSM22507, | NS | malignant_melanoma | p.A1309T | Substitution - Missense | 11:108284405-108284405, | PATHOGENIC | 0.94534 | 25148578 |
ATM | 795 | COSM22507, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A1309T | Substitution - Missense | 11:108284405-108284405, | PATHOGENIC | 0.94534 | 16461462 |
ATM | 795 | COSM22507, | NS | malignant_melanoma | p.A1309T | Substitution - Missense | 11:108284405-108284405, | PATHOGENIC | 0.94534 | 25148578 |
ATM | 795 | COSM5563494, | large_intestine | carcinoma | p.Q2637* | Substitution - Nonsense | 11:108332882-108332882, | PATHOGENIC | 0.94531 | 28481359 |
ATM | 795 | COSM1235426, | central_nervous_system | glioma | p.W1710* | Substitution - Nonsense | 11:108299838-108299838, | PATHOGENIC | 0.94509 | 28481359 |
ATM | 795 | COSM1235426, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W1710* | Substitution - Nonsense | 11:108299838-108299838, | PATHOGENIC | 0.94509 | 23407552 |
ATM | 795 | COSM1235426, | large_intestine | carcinoma | p.W1710* | Substitution - Nonsense | 11:108299838-108299838, | PATHOGENIC | 0.94509 | 28481359 |
ATM | 795 | COSM6196816, | large_intestine | carcinoma | p.? | Unknown | 11:108335112-108335112, | PATHOGENIC | 0.94476 | 27756406 |
ATM | 795 | COSM21931, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R337S | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.94468 | 16014569 |
ATM | 795 | COSM21931, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R337S | Substitution - Missense | 11:108247071-108247071, | PATHOGENIC | 0.94468 | 16014569 |
ATM | 795 | COSM6952703, | lung | carcinoma | p.A1427V | Substitution - Missense | 11:108289645-108289645, | PATHOGENIC | 0.94447 | 28481359 |
ATM | 795 | COSM2110319, | large_intestine | carcinoma | p.R32C | Substitution - Missense | 11:108227797-108227797, | PATHOGENIC | 0.9443 | 24951259 |
ATM | 795 | COSM4553608, | urinary_tract | carcinoma | p.L1989F | Substitution - Missense | 11:108312459-108312459, | PATHOGENIC | 0.94374 | 28481359 |
ATM | 795 | COSM4745884, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.C2488Y | Substitution - Missense | 11:108330369-108330369, | PATHOGENIC | 0.94358 | 25480502 |
ATM | 795 | COSM4745884, | lung | carcinoma | p.C2488Y | Substitution - Missense | 11:108330369-108330369, | PATHOGENIC | 0.94358 | 28481359 |
ATM | 795 | COSM6851647, | breast | carcinoma | p.S1492Y | Substitution - Missense | 11:108292657-108292657, | PATHOGENIC | 0.94327 | 25591616 |
ATM | 795 | COSM1704544, | skin | carcinoma | p.L2388F | Substitution - Missense | 11:108329093-108329093, | PATHOGENIC | 0.94321 | 28481359 |
ATM | 795 | COSM6950230, | central_nervous_system | glioma | p.R1918K | Substitution - Missense | 11:108307975-108307975, | PATHOGENIC | 0.94239 | 28481359 |
ATM | 795 | COSM21928, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.C2349W | Substitution - Missense | 11:108327716-108327716, | PATHOGENIC | 0.9423 | 16014569 |
ATM | 795 | COSM1350829, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q1128* | Substitution - Nonsense | 11:108279588-108279588, | PATHOGENIC | 0.94187 | 25480502 |
ATM | 795 | COSM1235444, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V1944E | Substitution - Missense | 11:108310228-108310228, | PATHOGENIC | 0.94178 | 23407552 |
ATM | 795 | COSM4745879, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W1858R | Substitution - Missense | 11:108304750-108304750, | PATHOGENIC | 0.94164 | 25480502 |
ATM | 795 | COSM6938616, | urinary_tract | carcinoma | p.D1285H | Substitution - Missense | 11:108284333-108284333, | PATHOGENIC | 0.94162 | 28481359 |
ATM | 795 | COSM6967923, | lung | carcinoma | p.V1538L | Substitution - Missense | 11:108293313-108293313, | PATHOGENIC | 0.94144 | 28481359 |
ATM | 795 | COSM6967923, | lung | carcinoma | p.V1538L | Substitution - Missense | 11:108293313-108293313, | PATHOGENIC | 0.94144 | 28481359 |
ATM | 795 | COSM6982316, | liver | carcinoma | p.E1832* | Substitution - Nonsense | 11:108303027-108303027, | PATHOGENIC | 0.94106 | 28481359 |
ATM | 795 | COSM5020793, | soft_tissue | haemangioblastoma | p.F2299F | Substitution - coding silent | 11:108326147-108326147, | PATHOGENIC | 0.94029 | 25589003 |
ATM | 795 | COSM6978925, | large_intestine | carcinoma | p.Q1531* | Substitution - Nonsense | 11:108292773-108292773, | PATHOGENIC | 0.94015 | 28481359 |
ATM | 795 | COSM6953270, | urinary_tract | carcinoma | p.E1072* | Substitution - Nonsense | 11:108272782-108272782, | PATHOGENIC | 0.939 | 28481359 |
ATM | 795 | COSM6967775, | lung | carcinoma | p.G2369* | Substitution - Nonsense | 11:108329036-108329036, | PATHOGENIC | 0.93889 | 28481359 |
ATM | 795 | COSM6944027, | urinary_tract | carcinoma | p.L1259V | Substitution - Missense | 11:108284255-108284255, | PATHOGENIC | 0.93758 | 28481359 |
ATM | 795 | COSM6196825, | large_intestine | carcinoma | p.P3050L | Substitution - Missense | 11:108365486-108365486, | PATHOGENIC | 0.93734 | 27756406 |
ATM | 795 | COSM6971933, | prostate | carcinoma | p.C2835F | Substitution - Missense | 11:108345828-108345828, | PATHOGENIC | 0.93731 | 28481359 |
ATM | 795 | COSM6927429, | urinary_tract | carcinoma | p.E1592* | Substitution - Nonsense | 11:108293475-108293475, | PATHOGENIC | 0.93728 | 28481359 |
ATM | 795 | COSM30278, | kidney | carcinoma | p.L1939V | Substitution - Missense | 11:108310212-108310212, | PATHOGENIC | 0.93722 | 20054297 |
ATM | 795 | COSM6974738, | large_intestine | carcinoma | p.F2571C | Substitution - Missense | 11:108331961-108331961, | PATHOGENIC | 0.93719 | 28481359 |
ATM | 795 | COSM6939302, | large_intestine | carcinoma | p.Y1241D | Substitution - Missense | 11:108282854-108282854, | PATHOGENIC | 0.9367 | 28481359 |
ATM | 795 | COSM6926614, | skin | carcinoma | p.G2287R | Substitution - Missense | 11:108326109-108326109, | PATHOGENIC | 0.93612 | 28481359 |
ATM | 795 | COSM6972939, | skin | carcinoma | p.L2005F | Substitution - Missense | 11:108315829-108315829, | PATHOGENIC | 0.93611 | 28481359 |
ATM | 795 | COSM6980136, | lung | carcinoma | p.E2457Q | Substitution - Missense | 11:108330275-108330275, | PATHOGENIC | 0.93606 | 28481359 |
ATM | 795 | COSM22501, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K1454N | Substitution - Missense | 11:108289727-108289727, | PATHOGENIC | 0.93603 | 12697903 |
ATM | 795 | COSM6980699, | large_intestine | carcinoma | p.L2659V | Substitution - Missense | 11:108333933-108333933, | PATHOGENIC | 0.93562 | 28481359 |
ATM | 795 | COSM6939642, | breast | carcinoma | p.Q1825* | Substitution - Nonsense | 11:108303006-108303006, | PATHOGENIC | 0.93519 | 28481359 |
ATM | 795 | COSM922752, | skin | carcinoma | p.R2849* | Substitution - Nonsense | 11:108345869-108345869, | PATHOGENIC | 0.93501 | 28481359 |
ATM | 795 | COSM922752, | soft_tissue | leiomyosarcoma | p.R2849* | Substitution - Nonsense | 11:108345869-108345869, | PATHOGENIC | 0.93501 | 28481359 |
ATM | 795 | COSM5010081, | large_intestine | carcinoma | p.F1336S | Substitution - Missense | 11:108287613-108287613, | PATHOGENIC | 0.93495 | 24951259 |
ATM | 795 | COSM6909351, | skin | carcinoma | p.E848K | Substitution - Missense | 11:108267246-108267246, | PATHOGENIC | 0.93349 | 28481359 |
ATM | 795 | COSM616, | breast | carcinoma | p.M1916I | Substitution - Missense | 11:108307970-108307970, | PATHOGENIC | 0.93265 | 15908952 |
ATM | 795 | COSM6918642, | skin | malignant_melanoma | p.P1639S | Substitution - Missense | 11:108297292-108297292, | PATHOGENIC | 0.93212 | 28481359 |
ATM | 795 | COSM6918642, | skin | carcinoma | p.P1639S | Substitution - Missense | 11:108297292-108297292, | PATHOGENIC | 0.93212 | 28481359 |
ATM | 795 | COSM6969115, | large_intestine | carcinoma | p.Y2334D | Substitution - Missense | 11:108327669-108327669, | PATHOGENIC | 0.93209 | 28481359 |
ATM | 795 | COSM6969115, | lung | carcinoma | p.Y2334D | Substitution - Missense | 11:108327669-108327669, | PATHOGENIC | 0.93209 | 28481359 |
ATM | 795 | COSM922695, | urinary_tract | carcinoma | p.R35* | Substitution - Nonsense | 11:108227806-108227806, | PATHOGENIC | 0.93177 | 28481359 |
ATM | 795 | COSM922695, | urinary_tract | carcinoma | p.R35* | Substitution - Nonsense | 11:108227806-108227806, | PATHOGENIC | 0.93177 | 28481359 |
ATM | 795 | COSM922695, | endometrium | carcinoma | p.R35* | Substitution - Nonsense | 11:108227806-108227806, | PATHOGENIC | 0.93177 | 28481359 |
ATM | 795 | COSM22476, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T2396S | Substitution - Missense | 11:108329118-108329118, | PATHOGENIC | 0.9317 | 9288106 |
ATM | 795 | COSM6919290, | large_intestine | carcinoma | p.V1648G | Substitution - Missense | 11:108297320-108297320, | PATHOGENIC | 0.93132 | 28481359 |
ATM | 795 | COSM1315812, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F1025L | Substitution - Missense | 11:108271404-108271404, | PATHOGENIC | 0.93113 | 23585524 |
ATM | 795 | COSM6947861, | breast | carcinoma | p.E1776* | Substitution - Nonsense | 11:108302859-108302859, | PATHOGENIC | 0.93099 | 28481359 |
ATM | 795 | COSM6933478, | breast | carcinoma | p.E1072K | Substitution - Missense | 11:108272782-108272782, | PATHOGENIC | 0.93051 | 28481359 |
ATM | 795 | COSM6933478, | lung | carcinoma | p.E1072K | Substitution - Missense | 11:108272782-108272782, | PATHOGENIC | 0.93051 | 28481359 |
ATM | 795 | COSM4774830, | breast | carcinoma | p.S712* | Substitution - Nonsense | 11:108256225-108256225, | PATHOGENIC | 0.93047 | 24185512 |
ATM | 795 | COSM6961080, | lung | carcinoma | p.L1348F | Substitution - Missense | 11:108287650-108287650, | PATHOGENIC | 0.92986 | 28481359 |
ATM | 795 | COSM6958833, | breast | carcinoma | p.L1764V | Substitution - Missense | 11:108301760-108301760, | PATHOGENIC | 0.92844 | 28481359 |
ATM | 795 | COSM6961529, | lung | carcinoma | p.M1628V | Substitution - Missense | 11:108295032-108295032, | PATHOGENIC | 0.92827 | 28481359 |
ATM | 795 | COSM6961529, | lung | carcinoma | p.M1628V | Substitution - Missense | 11:108295032-108295032, | PATHOGENIC | 0.92827 | 28481359 |
ATM | 795 | COSM6924802, | lung | carcinoma | p.T2359I | Substitution - Missense | 11:108327745-108327745, | PATHOGENIC | 0.92808 | 28481359 |
ATM | 795 | COSM5575320, | ovary | carcinoma | p.L1348F | Substitution - Missense | 11:108287650-108287650, | PATHOGENIC | 0.926 | 25846551 |
ATM | 795 | COSM2110538, | large_intestine | carcinoma | p.L1824F | Substitution - Missense | 11:108303003-108303003, | PATHOGENIC | 0.92551 | 27756406 |
ATM | 795 | COSM6936422, | lung | carcinoma | p.M1628L | Substitution - Missense | 11:108295032-108295032, | PATHOGENIC | 0.92471 | 28481359 |
ATM | 795 | COSM6914149, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.P453S | Substitution - Missense | 11:108250822-108250822, | PATHOGENIC | 0.924 | 28481359 |
ATM | 795 | COSM21936, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Q1128R | Substitution - Missense | 11:108279589-108279589, | PATHOGENIC | 0.92355 | 27534895 |
ATM | 795 | COSM21936, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Q1128R | Substitution - Missense | 11:108279589-108279589, | PATHOGENIC | 0.92355 | 27534895 |
ATM | 795 | COSM21936, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Q1128R | Substitution - Missense | 11:108279589-108279589, | PATHOGENIC | 0.92355 | 27534895 |
ATM | 795 | COSM21936, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q1128R | Substitution - Missense | 11:108279589-108279589, | PATHOGENIC | 0.92355 | 16014569 |
ATM | 795 | COSM4990086, | skin | carcinoma | p.G2533R | Substitution - Missense | 11:108331525-108331525, | PATHOGENIC | 0.92347 | 25589618 |
ATM | 795 | COSM4943265, | breast | carcinoma | p.E1856* | Substitution - Nonsense | 11:108304744-108304744, | PATHOGENIC | 0.92345 | 24185512 |
ATM | 795 | COSM6926569, | lung | carcinoma | p.E1666Q | Substitution - Missense | 11:108297373-108297373, | PATHOGENIC | 0.92336 | 28481359 |
ATM | 795 | COSM6005490, | NS | malignant_melanoma | p.Q2729H | Substitution - Missense | 11:108335880-108335880, | PATHOGENIC | 0.92274 | 25148578 |
ATM | 795 | COSM6854429, | large_intestine | carcinoma | p.E304G | Substitution - Missense | 11:108246973-108246973, | PATHOGENIC | 0.92182 | 28978093 |
ATM | 795 | COSM6937859, | urinary_tract | carcinoma | p.C2337W | Substitution - Missense | 11:108327680-108327680, | PATHOGENIC | 0.92054 | 28481359 |
ATM | 795 | COSM6913773, | skin | carcinoma | p.D1803H | Substitution - Missense | 11:108302940-108302940, | PATHOGENIC | 0.91899 | 28481359 |
ATM | 795 | COSM6966657, | lung | carcinoma | p.S1455I | Substitution - Missense | 11:108289729-108289729, | PATHOGENIC | 0.91802 | 28481359 |
ATM | 795 | COSM22504, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N1801Y | Substitution - Missense | 11:108302934-108302934, | PATHOGENIC | 0.91718 | 12697903 |
ATM | 795 | COSM6942852, | urinary_tract | carcinoma | p.E473Q | Substitution - Missense | 11:108250882-108250882, | PATHOGENIC | 0.91712 | 28481359 |
ATM | 795 | COSM6953774, | urinary_tract | carcinoma | p.S2058* | Substitution - Nonsense | 11:108316088-108316088, | PATHOGENIC | 0.91687 | 28481359 |
ATM | 795 | COSM6953774, | lung | carcinoma | p.S2058* | Substitution - Nonsense | 11:108316088-108316088, | PATHOGENIC | 0.91687 | 28481359 |
ATM | 795 | COSM22500, | pancreas | carcinoid-endocrine_tumour | p.R717W | Substitution - Missense | 11:108256239-108256239, | PATHOGENIC | 0.91622 | 27994516 |
ATM | 795 | COSM22500, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R717W | Substitution - Missense | 11:108256239-108256239, | PATHOGENIC | 0.91622 | 12697903 |
ATM | 795 | COSM5546582, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D2725E | Substitution - Missense | 11:108335868-108335868, | PATHOGENIC | 0.91611 | 24920063 |
ATM | 795 | COSM6906842, | breast | carcinoma | p.L1901F | Substitution - Missense | 11:108307925-108307925, | PATHOGENIC | 0.91593 | 29420467 |
ATM | 795 | COSM6005494, | NS | malignant_melanoma | p.M3011V | Substitution - Missense | 11:108365368-108365368, | PATHOGENIC | 0.91554 | 25148578 |
ATM | 795 | COSM6005494, | bone | chordoma | p.M3011V | Substitution - Missense | 11:108365368-108365368, | PATHOGENIC | 0.91554 | 27200287 |
ATM | 795 | COSM6939300, | large_intestine | carcinoma | p.I289L | Substitution - Missense | 11:108244990-108244990, | PATHOGENIC | 0.91394 | 28481359 |
ATM | 795 | COSM333214, | urinary_tract | carcinoma | p.R2526G | Substitution - Missense | 11:108331504-108331504, | PATHOGENIC | 0.91391 | 28481359 |
ATM | 795 | COSM6935824, | central_nervous_system | glioma | p.P434L | Substitution - Missense | 11:108250766-108250766, | PATHOGENIC | 0.91311 | 28481359 |
ATM | 795 | COSM4745885, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2579T | Substitution - Missense | 11:108331985-108331985, | PATHOGENIC | 0.91282 | 25480502 |
ATM | 795 | COSM6969379, | lung | carcinoma | p.Q2828* | Substitution - Nonsense | 11:108345806-108345806, | PATHOGENIC | 0.91278 | 28481359 |
ATM | 795 | COSM6938717, | breast | carcinoma | p.G873R | Substitution - Missense | 11:108267321-108267321, | PATHOGENIC | 0.91275 | 28481359 |
ATM | 795 | COSM1235412, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q14* | Substitution - Nonsense | 11:108227664-108227664, | PATHOGENIC | 0.91212 | 23407552 |
ATM | 795 | COSM6854235, | large_intestine | carcinoma | p.L1125S | Substitution - Missense | 11:108279580-108279580, | PATHOGENIC | 0.91173 | 28978093 |
ATM | 795 | COSM5010079, | large_intestine | carcinoma | p.L896P | Substitution - Missense | 11:108268458-108268458, | PATHOGENIC | 0.91134 | 24951259 |
ATM | 795 | COSM6493989, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A2325A | Substitution - coding silent | 11:108326225-108326225, | PATHOGENIC | 0.90937 | 27534895 |
ATM | 795 | COSM6966925, | pancreas | carcinoma | p.G1980R | Substitution - Missense | 11:108312430-108312430, | PATHOGENIC | 0.90899 | 28481359 |
ATM | 795 | COSM6914010, | large_intestine | carcinoma | p.V2617I | Substitution - Missense | 11:108332822-108332822, | PATHOGENIC | 0.90864 | 28481359 |
ATM | 795 | COSM6914010, | large_intestine | carcinoma | p.V2617I | Substitution - Missense | 11:108332822-108332822, | PATHOGENIC | 0.90864 | 28481359 |
ATM | 795 | COSM5095511, | thymus | thymic_carcinoma | p.E2815D | Substitution - Missense | 11:108345769-108345769, | PATHOGENIC | 0.90698 | 24974848 |
ATM | 795 | COSM22488, | skin | malignant_melanoma | p.R2832C | Substitution - Missense | 11:108345818-108345818, | PATHOGENIC | 0.90679 | 28481359 |
ATM | 795 | COSM22488, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2832C | Substitution - Missense | 11:108345818-108345818, | PATHOGENIC | 0.90679 | 9288106 |
ATM | 795 | COSM22488, | thyroid | adenoma-nodule-goitre | p.R2832C | Substitution - Missense | 11:108345818-108345818, | PATHOGENIC | 0.90679 | 28481359 |
ATM | 795 | COSM22488, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2832C | Substitution - Missense | 11:108345818-108345818, | PATHOGENIC | 0.90679 | 23091097 |
ATM | 795 | COSM6969472, | kidney | carcinoma | p.Y1844* | Substitution - Nonsense | 11:108304710-108304710, | PATHOGENIC | 0.90604 | 28481359 |
ATM | 795 | COSM6191670, | NS | carcinoma | p.D841N | Substitution - Missense | 11:108267225-108267225, | PATHOGENIC | 0.90451 | 27322425 |
ATM | 795 | COSM6196824, | large_intestine | carcinoma | p.E848V | Substitution - Missense | 11:108267247-108267247, | PATHOGENIC | 0.9042 | 27756406 |
ATM | 795 | COSM12796, | lung | carcinoma | p.G558* | Substitution - Nonsense | 11:108251901-108251901, | PATHOGENIC | 0.90404 | 16140923 |
ATM | 795 | COSM12796, | lung | carcinoma | p.G558* | Substitution - Nonsense | 11:108251901-108251901, | PATHOGENIC | 0.90404 | 16140923 |
ATM | 795 | COSM6934581, | lung | carcinoma | p.R2723* | Substitution - Nonsense | 11:108335860-108335860, | PATHOGENIC | 0.9021 | 28481359 |
ATM | 795 | COSM6965190, | urinary_tract | carcinoma | p.R924W | Substitution - Missense | 11:108268541-108268541, | PATHOGENIC | 0.90161 | 28481359 |
ATM | 795 | COSM7325242, | biliary_tract | carcinoma | p.A84V | Substitution - Missense | 11:108229243-108229243, | PATHOGENIC | 0.9016 | 29360550 |
ATM | 795 | COSM3733256, | urinary_tract | carcinoma | p.L2877F | Substitution - Missense | 11:108347325-108347325, | PATHOGENIC | 0.90154 | 28481359 |
ATM | 795 | COSM3733256, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2877F | Substitution - Missense | 11:108347325-108347325, | PATHOGENIC | 0.90154 | 24682267 |
ATM | 795 | COSM3733256, | lung | carcinoma | p.L2877F | Substitution - Missense | 11:108347325-108347325, | PATHOGENIC | 0.90154 | 28481359 |
ATM | 795 | COSM3733256, | lung | carcinoma | p.L2877F | Substitution - Missense | 11:108347325-108347325, | PATHOGENIC | 0.90154 | 28481359 |
ATM | 795 | COSM21624, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3047* | Substitution - Nonsense | 11:108365476-108365476, | PATHOGENIC | 0.90099 | 16461462 |
ATM | 795 | COSM21624, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3047* | Substitution - Nonsense | 11:108365476-108365476, | PATHOGENIC | 0.90099 | 9288106 |
ATM | 795 | COSM21624, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3047* | Substitution - Nonsense | 11:108365476-108365476, | PATHOGENIC | 0.90099 | 23091097 |
ATM | 795 | COSM21624, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R3047* | Substitution - Nonsense | 11:108365476-108365476, | PATHOGENIC | 0.90099 | 10397742 |
ATM | 795 | COSM6196808, | large_intestine | carcinoma | p.A2454S | Substitution - Missense | 11:108330266-108330266, | PATHOGENIC | 0.90059 | 27756406 |
ATM | 795 | COSM6196683, | lung | carcinoma | p.E3007D | Substitution - Missense | 11:108365358-108365358, | PATHOGENIC | 0.89872 | 26317919 |
ATM | 795 | COSM4745869, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K477R | Substitution - Missense | 11:108250895-108250895, | PATHOGENIC | 0.89866 | 25480502 |
ATM | 795 | COSM22503, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y1475C | Substitution - Missense | 11:108289789-108289789, | PATHOGENIC | 0.8972 | 12697903 |
ATM | 795 | COSM6967964, | lung | carcinoma | p.R2790S | Substitution - Missense | 11:108343323-108343323, | PATHOGENIC | 0.89628 | 28481359 |
ATM | 795 | COSM6912489, | biliary_tract | carcinoma | p.R35Q | Substitution - Missense | 11:108227807-108227807, | PATHOGENIC | 0.89547 | 28481359 |
ATM | 795 | COSM6946277, | large_intestine | carcinoma | p.E2245* | Substitution - Nonsense | 11:108325470-108325470, | PATHOGENIC | 0.89504 | 28481359 |
ATM | 795 | COSM1235420, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108302851-108302851, | PATHOGENIC | 0.89378 | 23407552 |
ATM | 795 | COSM6925193, | lung | carcinoma | p.L2877F | Substitution - Missense | 11:108347325-108347325, | PATHOGENIC | 0.89377 | 28481359 |
ATM | 795 | COSM6493968, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G392G | Substitution - coding silent | 11:108249043-108249043, | PATHOGENIC | 0.89321 | 27534895 |
ATM | 795 | COSM6493968, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G392G | Substitution - coding silent | 11:108249043-108249043, | PATHOGENIC | 0.89321 | 27534895 |
ATM | 795 | COSM2110315, | large_intestine | carcinoma | p.R23* | Substitution - Nonsense | 11:108227691-108227691, | PATHOGENIC | 0.89192 | 27023146 |
ATM | 795 | COSM2110315, | large_intestine | carcinoma | p.R23* | Substitution - Nonsense | 11:108227691-108227691, | PATHOGENIC | 0.89192 | 27023146 |
ATM | 795 | COSM2110315, | large_intestine | carcinoma | p.R23* | Substitution - Nonsense | 11:108227691-108227691, | PATHOGENIC | 0.89192 | 27023146 |
ATM | 795 | COSM2110315, | large_intestine | carcinoma | p.R23* | Substitution - Nonsense | 11:108227691-108227691, | PATHOGENIC | 0.89192 | 27023146 |
ATM | 795 | COSM4745872, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.C987W | Substitution - Missense | 11:108271290-108271290, | PATHOGENIC | 0.89084 | 25480502 |
ATM | 795 | COSM6975567, | lung | carcinoma | p.L1845F | Substitution - Missense | 11:108304713-108304713, | PATHOGENIC | 0.89027 | 28481359 |
ATM | 795 | COSM173211, | large_intestine | carcinoma | p.R250* | Substitution - Nonsense | 11:108244873-108244873, | PATHOGENIC | 0.88927 | 28481359 |
ATM | 795 | COSM173211, | endometrium | carcinoma | p.R250* | Substitution - Nonsense | 11:108244873-108244873, | PATHOGENIC | 0.88927 | 28481359 |
ATM | 795 | COSM173211, | large_intestine | carcinoma | p.R250* | Substitution - Nonsense | 11:108244873-108244873, | PATHOGENIC | 0.88927 | 28481359 |
ATM | 795 | COSM173211, | urinary_tract | carcinoma | p.R250* | Substitution - Nonsense | 11:108244873-108244873, | PATHOGENIC | 0.88927 | 28481359 |
ATM | 795 | COSM173211, | endometrium | carcinoma | p.R250* | Substitution - Nonsense | 11:108244873-108244873, | PATHOGENIC | 0.88927 | 28481359 |
ATM | 795 | COSM173211, | skin | carcinoma | p.R250* | Substitution - Nonsense | 11:108244873-108244873, | PATHOGENIC | 0.88927 | 28481359 |
ATM | 795 | COSM922733, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A2062V | Substitution - Missense | 11:108316100-108316100, | PATHOGENIC | 0.88906 | 23585524 |
ATM | 795 | COSM4990078, | skin | carcinoma | p.E2238K | Substitution - Missense | 11:108325449-108325449, | PATHOGENIC | 0.88838 | 25589618 |
ATM | 795 | COSM1315816, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E2187* | Substitution - Nonsense | 11:108321407-108321407, | PATHOGENIC | 0.88731 | 23585524 |
ATM | 795 | COSM21646, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q1361* | Substitution - Nonsense | 11:108287687-108287687, | PATHOGENIC | 0.88709 | 10706620 |
ATM | 795 | COSM171676, | large_intestine | carcinoma | p.R1466* | Substitution - Nonsense | 11:108289761-108289761, | PATHOGENIC | 0.88666 | 28481359 |
ATM | 795 | COSM171676, | urinary_tract | carcinoma | p.R1466* | Substitution - Nonsense | 11:108289761-108289761, | PATHOGENIC | 0.88666 | 28481359 |
ATM | 795 | COSM21627, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K3018N | Substitution - Missense | 11:108365391-108365391, | PATHOGENIC | 0.88606 | 10397742 |
ATM | 795 | COSM6937006, | ovary | carcinoma | p.K2237* | Substitution - Nonsense | 11:108325446-108325446, | PATHOGENIC | 0.88514 | 28481359 |
ATM | 795 | COSM6959473, | central_nervous_system | glioma | p.G833E | Substitution - Missense | 11:108267202-108267202, | PATHOGENIC | 0.88396 | 28481359 |
ATM | 795 | COSM540824, | skin | adnexal_tumour | p.L2877L | Substitution - coding silent | 11:108347325-108347325, | PATHOGENIC | 0.88232 | 27311873 |
ATM | 795 | COSM5020963, | skin | adnexal_tumour | p.S333F | Substitution - Missense | 11:108247060-108247060, | PATHOGENIC | 0.88056 | 27311873 |
ATM | 795 | COSM5020963, | soft_tissue | haemangioblastoma | p.S333F | Substitution - Missense | 11:108247060-108247060, | PATHOGENIC | 0.88056 | 25589003 |
ATM | 795 | COSM21934, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K1994E | Substitution - Missense | 11:108312472-108312472, | PATHOGENIC | 0.87786 | 16014569 |
ATM | 795 | COSM758329, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.C2464R | Substitution - Missense | 11:108330296-108330296, | PATHOGENIC | 0.87596 | 23091097 |
ATM | 795 | COSM758329, | large_intestine | carcinoma | p.C2464R | Substitution - Missense | 11:108330296-108330296, | PATHOGENIC | 0.87596 | 27756406 |
ATM | 795 | COSM1235430, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.C2488* | Substitution - Nonsense | 11:108330370-108330370, | PATHOGENIC | 0.87471 | 23407552 |
ATM | 795 | COSM200681, | large_intestine | carcinoma | p.F2839L | Substitution - Missense | 11:108345841-108345841, | PATHOGENIC | 0.87432 | 24951259 |
ATM | 795 | COSM200681, | urinary_tract | carcinoma | p.F2839L | Substitution - Missense | 11:108345841-108345841, | PATHOGENIC | 0.87432 | 28481359 |
ATM | 795 | COSM6854209, | large_intestine | carcinoma | p.Q513H | Substitution - Missense | 11:108251004-108251004, | PATHOGENIC | 0.87416 | 28978093 |
ATM | 795 | COSM7002172, | large_intestine | carcinoma | p.R329* | Substitution - Nonsense | 11:108247047-108247047, | PATHOGENIC | 0.87209 | 28548125 |
ATM | 795 | COSM6917341, | large_intestine | carcinoma | p.N1273D | Substitution - Missense | 11:108284297-108284297, | PATHOGENIC | 0.87123 | 28481359 |
ATM | 795 | COSM6854119, | large_intestine | carcinoma | p.N625I | Substitution - Missense | 11:108252888-108252888, | PATHOGENIC | 0.87107 | 28978093 |
ATM | 795 | COSM6934207, | lung | carcinoma | p.M963L | Substitution - Missense | 11:108271112-108271112, | PATHOGENIC | 0.87078 | 28481359 |
ATM | 795 | COSM6942566, | urinary_tract | carcinoma | p.K331N | Substitution - Missense | 11:108247055-108247055, | PATHOGENIC | 0.87074 | 28481359 |
ATM | 795 | COSM6981124, | breast | carcinoma | p.F2558L | Substitution - Missense | 11:108331923-108331923, | PATHOGENIC | 0.86916 | 28481359 |
ATM | 795 | COSM21325, | kidney | carcinoma | p.E1991D | Substitution - Missense | 11:108312465-108312465, | PATHOGENIC | 0.86784 | 20054297 |
ATM | 795 | COSM21325, | kidney | carcinoma | p.E1991D | Substitution - Missense | 11:108312465-108312465, | PATHOGENIC | 0.86784 | 20054297 |
ATM | 795 | COSM21325, | kidney | carcinoma | p.E1991D | Substitution - Missense | 11:108312465-108312465, | PATHOGENIC | 0.86784 | 20054297 |
ATM | 795 | COSM6923511, | lung | carcinoma | p.N2632K | Substitution - Missense | 11:108332869-108332869, | PATHOGENIC | 0.86781 | 28481359 |
ATM | 795 | COSM5575328, | ovary | carcinoma | p.V1043L | Substitution - Missense | 11:108272581-108272581, | PATHOGENIC | 0.8676 | 25846551 |
ATM | 795 | COSM1315810, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2459C | Substitution - Missense | 11:108330281-108330281, | PATHOGENIC | 0.86415 | 23585524 |
ATM | 795 | COSM1315810, | large_intestine | carcinoma | p.R2459C | Substitution - Missense | 11:108330281-108330281, | PATHOGENIC | 0.86415 | 28481359 |
ATM | 795 | COSM6984089, | large_intestine | carcinoma | p.S2375R | Substitution - Missense | 11:108329056-108329056, | PATHOGENIC | 0.86413 | 28481359 |
ATM | 795 | COSM21939, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108268400-108268400, | PATHOGENIC | 0.86346 | 16014569 |
ATM | 795 | COSM5576022, | stomach | carcinoma | p.E253G | Substitution - Missense | 11:108244883-108244883, | PATHOGENIC | 0.86247 | 26489445 |
ATM | 795 | COSM1350897, | pancreas | carcinoma | p.R1875* | Substitution - Nonsense | 11:108304801-108304801, | PATHOGENIC | 0.86208 | 28481359 |
ATM | 795 | COSM1350897, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R1875* | Substitution - Nonsense | 11:108304801-108304801, | PATHOGENIC | 0.86208 | 25480502 |
ATM | 795 | COSM1350897, | large_intestine | carcinoma | p.R1875* | Substitution - Nonsense | 11:108304801-108304801, | PATHOGENIC | 0.86208 | 28481359 |
ATM | 795 | COSM1350897, | endometrium | carcinoma | p.R1875* | Substitution - Nonsense | 11:108304801-108304801, | PATHOGENIC | 0.86208 | 28481359 |
ATM | 795 | COSM4767439, | biliary_tract | carcinoma | p.F1683L | Substitution - Missense | 11:108299757-108299757, | PATHOGENIC | 0.85965 | 24997986 |
ATM | 795 | COSM7325274, | biliary_tract | carcinoma | p.Q1274E | Substitution - Missense | 11:108284300-108284300, | PATHOGENIC | 0.85963 | 29360550 |
ATM | 795 | COSM6927184, | lung | carcinoma | p.H192N | Substitution - Missense | 11:108244030-108244030, | PATHOGENIC | 0.8595 | 28481359 |
ATM | 795 | COSM1183943, | large_intestine | carcinoma | p.R2763* | Substitution - Nonsense | 11:108343240-108343240, | PATHOGENIC | 0.85877 | 28481359 |
ATM | 795 | COSM1183943, | endometrium | carcinoma | p.R2763* | Substitution - Nonsense | 11:108343240-108343240, | PATHOGENIC | 0.85877 | 28481359 |
ATM | 795 | COSM5009207, | large_intestine | carcinoma | p.V2288V | Substitution - coding silent | 11:108326114-108326114, | PATHOGENIC | 0.8581 | 24951259 |
ATM | 795 | COSM5446880, | large_intestine | carcinoma | p.A220V | Substitution - Missense | 11:108244115-108244115, | PATHOGENIC | 0.85529 | 28481359 |
ATM | 795 | COSM5446880, | large_intestine | carcinoma | p.A220V | Substitution - Missense | 11:108244115-108244115, | PATHOGENIC | 0.85529 | 28481359 |
ATM | 795 | COSM6961035, | lung | carcinoma | p.H2038Q | Substitution - Missense | 11:108316029-108316029, | PATHOGENIC | 0.85524 | 28481359 |
ATM | 795 | COSM6196836, | large_intestine | carcinoma | p.L1955F | Substitution - Missense | 11:108310262-108310262, | PATHOGENIC | 0.85361 | 27756406 |
ATM | 795 | COSM172204, | endometrium | carcinoma | p.R1730* | Substitution - Nonsense | 11:108301658-108301658, | PATHOGENIC | 0.85065 | 28481359 |
ATM | 795 | COSM172204, | large_intestine | carcinoma | p.R1730* | Substitution - Nonsense | 11:108301658-108301658, | PATHOGENIC | 0.85065 | 28548125 |
ATM | 795 | COSM1350875, | large_intestine | carcinoma | p.R1618* | Substitution - Nonsense | 11:108295002-108295002, | PATHOGENIC | 0.85053 | 23700467 |
ATM | 795 | COSM6904750, | thyroid | carcinoma | p.K331N | Substitution - Missense | 11:108247055-108247055, | PATHOGENIC | 0.84991 | 28351340 |
ATM | 795 | COSM21317, | large_intestine | carcinoma | p.N1739T | Substitution - Missense | 11:108301686-108301686, | PATHOGENIC | 0.84901 | Info_not_available |
ATM | 795 | COSM21317, | large_intestine | carcinoma | p.N1739T | Substitution - Missense | 11:108301686-108301686, | PATHOGENIC | 0.84901 | Info_not_available |
ATM | 795 | COSM4605540, | upper_aerodigestive_tract | carcinoma | p.T1735N | Substitution - Missense | 11:108301674-108301674, | PATHOGENIC | 0.84652 | 25056374 |
ATM | 795 | COSM6960470, | skin | malignant_melanoma | p.T1363I | Substitution - Missense | 11:108287694-108287694, | PATHOGENIC | 0.84538 | 28481359 |
ATM | 795 | COSM6915347, | skin | carcinoma | p.S2283L | Substitution - Missense | 11:108326098-108326098, | PATHOGENIC | 0.84524 | 28481359 |
ATM | 795 | COSM6853850, | large_intestine | carcinoma | p.K1665E | Substitution - Missense | 11:108297370-108297370, | PATHOGENIC | 0.84495 | 28978093 |
ATM | 795 | COSM22485, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2890V | Substitution - Missense | 11:108347362-108347362, | PATHOGENIC | 0.84051 | 9288106 |
ATM | 795 | COSM22485, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2890V | Substitution - Missense | 11:108347362-108347362, | PATHOGENIC | 0.84051 | 23091097 |
ATM | 795 | COSM22485, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2890V | Substitution - Missense | 11:108347362-108347362, | PATHOGENIC | 0.84051 | 16461462 |
ATM | 795 | COSM22485, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2890V | Substitution - Missense | 11:108347362-108347362, | PATHOGENIC | 0.84051 | 24682267 |
ATM | 795 | COSM22485, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2890V | Substitution - Missense | 11:108347362-108347362, | PATHOGENIC | 0.84051 | 23585524 |
ATM | 795 | COSM22485, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L2890V | Substitution - Missense | 11:108347362-108347362, | PATHOGENIC | 0.84051 | 23407552 |
ATM | 795 | COSM5095524, | thymus | thymic_carcinoma | p.Q2874H | Substitution - Missense | 11:108347316-108347316, | PATHOGENIC | 0.83977 | 24974848 |
ATM | 795 | COSM6942568, | urinary_tract | carcinoma | p.M963T | Substitution - Missense | 11:108271113-108271113, | PATHOGENIC | 0.83602 | 28481359 |
ATM | 795 | COSM6972760, | lung | carcinoma | p.K41* | Substitution - Nonsense | 11:108227824-108227824, | PATHOGENIC | 0.83413 | 28481359 |
ATM | 795 | COSM6907780, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q401Q | Substitution - coding silent | 11:108249070-108249070, | PATHOGENIC | 0.83329 | 29386642 |
ATM | 795 | COSM6854444, | large_intestine | carcinoma | p.K1066K | Substitution - coding silent | 11:108272766-108272766, | PATHOGENIC | 0.83309 | 28978093 |
ATM | 795 | COSM6911096, | lung | carcinoma | p.L263F | Substitution - Missense | 11:108244912-108244912, | PATHOGENIC | 0.83168 | 28481359 |
ATM | 795 | COSM6506626, | stomach | carcinoma | p.M1321I | Substitution - Missense | 11:108284443-108284443, | PATHOGENIC | 0.82948 | 25656989 |
ATM | 795 | COSM6493976, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L1046F | Substitution - Missense | 11:108272590-108272590, | PATHOGENIC | 0.82753 | 27534895 |
ATM | 795 | COSM3734766, | small_intestine | carcinoma | p.L2698F | Substitution - Missense | 11:108335052-108335052, | PATHOGENIC | 0.82567 | 24797764 |
ATM | 795 | COSM922732, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2034* | Substitution - Nonsense | 11:108316015-108316015, | PATHOGENIC | 0.8237 | 28481359 |
ATM | 795 | COSM1350925, | large_intestine | carcinoma | p.D2003E | Substitution - Missense | 11:108315825-108315825, | PATHOGENIC | 0.82119 | 24951259 |
ATM | 795 | COSM6925853, | large_intestine | carcinoma | p.T1558K | Substitution - Missense | 11:108293374-108293374, | PATHOGENIC | 0.82091 | 28481359 |
ATM | 795 | COSM20754, | kidney | carcinoma | p.I1469M | Substitution - Missense | 11:108289772-108289772, | PATHOGENIC | 0.82053 | 20054297 |
ATM | 795 | COSM20754, | kidney | carcinoma | p.I1469M | Substitution - Missense | 11:108289772-108289772, | PATHOGENIC | 0.82053 | 20054297 |
ATM | 795 | COSM6854117, | large_intestine | carcinoma | p.Q404H | Substitution - Missense | 11:108249079-108249079, | PATHOGENIC | 0.81608 | 28978093 |
ATM | 795 | COSM6854488, | large_intestine | carcinoma | p.A1427A | Substitution - coding silent | 11:108289646-108289646, | PATHOGENIC | 0.81529 | 28978093 |
ATM | 795 | COSM6975586, | lung | carcinoma | p.E1664G | Substitution - Missense | 11:108297368-108297368, | PATHOGENIC | 0.8117 | 28481359 |
ATM | 795 | COSM6977382, | stomach | carcinoma | p.A1931T | Substitution - Missense | 11:108310188-108310188, | PATHOGENIC | 0.80801 | 28481359 |
ATM | 795 | COSM6951694, | NS | malignant_melanoma | p.N405K | Substitution - Missense | 11:108249082-108249082, | PATHOGENIC | 0.80405 | 28481359 |
ATM | 795 | COSM6951694, | NS | malignant_melanoma | p.N405K | Substitution - Missense | 11:108249082-108249082, | PATHOGENIC | 0.80405 | 28481359 |
ATM | 795 | COSM6960245, | large_intestine | carcinoma | p.S214P | Substitution - Missense | 11:108244096-108244096, | PATHOGENIC | 0.80187 | 28481359 |
ATM | 795 | COSM6960245, | small_intestine | carcinoma | p.S214P | Substitution - Missense | 11:108244096-108244096, | PATHOGENIC | 0.80187 | 28481359 |
ATM | 795 | COSM48247, | lung | carcinoma | p.H2872Q | Substitution - Missense | 11:108347310-108347310, | PATHOGENIC | 0.80159 | 18948947 |
ATM | 795 | COSM1235402, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E1301* | Substitution - Nonsense | 11:108284381-108284381, | PATHOGENIC | 0.80064 | 23407552 |
ATM | 795 | COSM5575557, | ovary | carcinoma | p.T1819K | Substitution - Missense | 11:108302989-108302989, | PATHOGENIC | 0.79917 | 25846551 |
ATM | 795 | COSM1235428, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y2755* | Substitution - Nonsense | 11:108335958-108335958, | PATHOGENIC | 0.79789 | 23407552 |
ATM | 795 | COSM6196829, | large_intestine | carcinoma | p.D1758E | Substitution - Missense | 11:108301744-108301744, | PATHOGENIC | 0.79573 | 27756406 |
ATM | 795 | COSM758349, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108248927-108248927, | PATHOGENIC | 0.79449 | 23091097 |
ATM | 795 | COSM21873, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R2263S | Substitution - Missense | 11:108325526-108325526, | PATHOGENIC | 0.79353 | 16387360 |
ATM | 795 | COSM6854431, | large_intestine | carcinoma | p.K1435R | Substitution - Missense | 11:108289669-108289669, | PATHOGENIC | 0.79273 | 28978093 |
ATM | 795 | COSM4386691, | peritoneum | other | p.L1327* | Substitution - Nonsense | 11:108284460-108284460, | PATHOGENIC | 0.79154 | 25274248 |
ATM | 795 | COSM48239, | lung | carcinoma | p.Q747H | Substitution - Missense | 11:108256331-108256331, | PATHOGENIC | 0.79094 | 18948947 |
ATM | 795 | COSM48239, | urinary_tract | carcinoma | p.Q747H | Substitution - Missense | 11:108256331-108256331, | PATHOGENIC | 0.79094 | 25225064 |
ATM | 795 | COSM6966362, | soft_tissue | angiosarcoma | p.H192Y | Substitution - Missense | 11:108244030-108244030, | PATHOGENIC | 0.79066 | 28481359 |
ATM | 795 | COSM2110492, | breast | carcinoma | p.L1472F | Substitution - Missense | 11:108289781-108289781, | PATHOGENIC | 0.7887 | 28481359 |
ATM | 795 | COSM5575272, | ovary | carcinoma | p.G679D | Substitution - Missense | 11:108253951-108253951, | PATHOGENIC | 0.78855 | 25846551 |
ATM | 795 | COSM21297, | large_intestine | carcinoma | p.C540Y | Substitution - Missense | 11:108251848-108251848, | PATHOGENIC | 0.78603 | Info_not_available |
ATM | 795 | COSM21297, | large_intestine | carcinoma | p.C540Y | Substitution - Missense | 11:108251848-108251848, | PATHOGENIC | 0.78603 | Info_not_available |
ATM | 795 | COSM6023798, | kidney | carcinoma | p.L995F | Substitution - Missense | 11:108271312-108271312, | PATHOGENIC | 0.78421 | 26831717 |
ATM | 795 | COSM6910320, | urinary_tract | carcinoma | p.R2618K | Substitution - Missense | 11:108332826-108332826, | PATHOGENIC | 0.78262 | 28481359 |
ATM | 795 | COSM132867, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108287720-108287720, | PATHOGENIC | 0.78211 | 21993670 |
ATM | 795 | COSM6005491, | NS | malignant_melanoma | p.S1691R | Substitution - Missense | 11:108299779-108299779, | PATHOGENIC | 0.77649 | 25148578 |
ATM | 795 | COSM6005491, | thyroid | carcinoma | p.S1691R | Substitution - Missense | 11:108299779-108299779, | PATHOGENIC | 0.77649 | 28351340 |
ATM | 795 | COSM6005491, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.S1691R | Substitution - Missense | 11:108299779-108299779, | PATHOGENIC | 0.77649 | 27534895 |
ATM | 795 | COSM6005491, | large_intestine | carcinoma | p.S1691R | Substitution - Missense | 11:108299779-108299779, | PATHOGENIC | 0.77649 | 28548125 |
ATM | 795 | COSM6005491, | large_intestine | carcinoma | p.S1691R | Substitution - Missense | 11:108299779-108299779, | PATHOGENIC | 0.77649 | 27756406 |
ATM | 795 | COSM6005491, | large_intestine | carcinoma | p.S1691R | Substitution - Missense | 11:108299779-108299779, | PATHOGENIC | 0.77649 | 27756406 |
ATM | 795 | COSM6005491, | NS | malignant_melanoma | p.S1691R | Substitution - Missense | 11:108299779-108299779, | PATHOGENIC | 0.77649 | 25148578 |
ATM | 795 | COSM6005491, | large_intestine | carcinoma | p.S1691R | Substitution - Missense | 11:108299779-108299779, | PATHOGENIC | 0.77649 | 27756406 |
ATM | 795 | COSM5575332, | ovary | carcinoma | p.P2328T | Substitution - Missense | 11:108327651-108327651, | PATHOGENIC | 0.77575 | 25846551 |
ATM | 795 | COSM6979677, | lung | carcinoma | p.? | Unknown | 11:108307985-108307985, | PATHOGENIC | 0.77334 | 28481359 |
ATM | 795 | COSM6928997, | central_nervous_system | glioma | p.L606F | Substitution - Missense | 11:108252830-108252830, | PATHOGENIC | 0.77051 | 28481359 |
ATM | 795 | COSM6985172, | endometrium | carcinoma | p.A2325V | Substitution - Missense | 11:108326224-108326224, | PATHOGENIC | 0.76567 | 28481359 |
ATM | 795 | COSM4990080, | skin | carcinoma | p.V2288V | Substitution - coding silent | 11:108326114-108326114, | PATHOGENIC | 0.76502 | 25589618 |
ATM | 795 | COSM21640, | endometrium | carcinoma | p.A2622V | Substitution - Missense | 11:108332838-108332838, | PATHOGENIC | 0.75545 | 28481359 |
ATM | 795 | COSM21640, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A2622V | Substitution - Missense | 11:108332838-108332838, | PATHOGENIC | 0.75545 | 9892178 |
ATM | 795 | COSM6908777, | endometrium | carcinoma | p.K2710R | Substitution - Missense | 11:108335087-108335087, | PATHOGENIC | 0.75201 | 28481359 |
ATM | 795 | COSM6444628, | endometrium | carcinoma | p.R1086C | Substitution - Missense | 11:108272824-108272824, | PATHOGENIC | 0.75197 | 27159395 |
ATM | 795 | COSM6444628, | endometrium | carcinoma | p.R1086C | Substitution - Missense | 11:108272824-108272824, | PATHOGENIC | 0.75197 | 28481359 |
ATM | 795 | COSM6444628, | large_intestine | carcinoma | p.R1086C | Substitution - Missense | 11:108272824-108272824, | PATHOGENIC | 0.75197 | 28481359 |
ATM | 795 | COSM6444628, | endometrium | carcinoma | p.R1086C | Substitution - Missense | 11:108272824-108272824, | PATHOGENIC | 0.75197 | 27159395 |
ATM | 795 | COSM6974064, | central_nervous_system | glioma | p.I2233T | Substitution - Missense | 11:108325435-108325435, | PATHOGENIC | 0.7471 | 28481359 |
ATM | 795 | COSM6946280, | large_intestine | carcinoma | p.E2676* | Substitution - Nonsense | 11:108334984-108334984, | PATHOGENIC | 0.74446 | 28481359 |
ATM | 795 | COSM6904314, | breast | carcinoma | p.R1898* | Substitution - Nonsense | 11:108307914-108307914, | PATHOGENIC | 0.74426 | 27925203 |
ATM | 795 | COSM6904314, | small_intestine | carcinoma | p.R1898* | Substitution - Nonsense | 11:108307914-108307914, | PATHOGENIC | 0.74426 | 28481359 |
ATM | 795 | COSM6904314, | urinary_tract | carcinoma | p.R1898* | Substitution - Nonsense | 11:108307914-108307914, | PATHOGENIC | 0.74426 | 28481359 |
ATM | 795 | COSM6904290, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.H399Y | Substitution - Missense | 11:108249062-108249062, | PATHOGENIC | 0.73956 | 29262531 |
ATM | 795 | COSM6853937, | large_intestine | carcinoma | p.R1882R | Substitution - coding silent | 11:108304822-108304822, | PATHOGENIC | 0.73954 | 28978093 |
ATM | 795 | COSM6853937, | large_intestine | carcinoma | p.R1882R | Substitution - coding silent | 11:108304822-108304822, | PATHOGENIC | 0.73954 | 28978093 |
ATM | 795 | COSM6976492, | large_intestine | carcinoma | p.V278D | Substitution - Missense | 11:108244958-108244958, | PATHOGENIC | 0.73879 | 28481359 |
ATM | 795 | COSM6907830, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L75V | Substitution - Missense | 11:108229215-108229215, | PATHOGENIC | 0.73765 | 29386642 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 25115387 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 25115387 |
ATM | 795 | COSM21826, | central_nervous_system | glioma | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 24695838 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 25115387 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 27534895 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 16631465 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 25115387 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 27534895 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 25115387 |
ATM | 795 | COSM21826, | skin | adnexal_tumour | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 27311873 |
ATM | 795 | COSM21826, | skin | adnexal_tumour | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 27311873 |
ATM | 795 | COSM21826, | lung | carcinoma | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 23907151 |
ATM | 795 | COSM21826, | salivary_gland | adenoma | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 27224988 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 12697903 |
ATM | 795 | COSM21826, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F858L | Substitution - Missense | 11:108267276-108267276, | PATHOGENIC | 0.73487 | 12697903 |
ATM | 795 | COSM922749, | large_intestine | carcinoma | p.S2812Y | Substitution - Missense | 11:108345759-108345759, | PATHOGENIC | 0.73319 | 28978093 |
ATM | 795 | COSM6196820, | large_intestine | carcinoma | p.H1747Y | Substitution - Missense | 11:108301709-108301709, | PATHOGENIC | 0.73127 | 27756406 |
ATM | 795 | COSM6946275, | large_intestine | carcinoma | p.S571Y | Substitution - Missense | 11:108251941-108251941, | PATHOGENIC | 0.71608 | 28481359 |
ATM | 795 | COSM6937165, | upper_aerodigestive_tract | carcinoma | p.E1091K | Substitution - Missense | 11:108272839-108272839, | PATHOGENIC | 0.71521 | 28481359 |
ATM | 795 | COSM4745886, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 11:108235838-108235838, | PATHOGENIC | 0.71203 | 25480502 |
ATM | 795 | COSM6981057, | NS | carcinoma | p.L409F | Substitution - Missense | 11:108249092-108249092, | PATHOGENIC | 0.71105 | 28481359 |
ATM | 795 | COSM5607897, | skin | malignant_melanoma | p.S1270S | Substitution - coding silent | 11:108284290-108284290, | PATHOGENIC | 0.70651 | 26343386 |
ATM | 795 | COSM4990064, | skin | carcinoma | p.V716V | Substitution - coding silent | 11:108256238-108256238, | NEUTRAL | 0.499 | 25589618 |
ATM | 795 | COSM6495411, | NS | malignant_melanoma | p.L1420F | Substitution - Missense | 11:108289623-108289623, | NEUTRAL | 0.49461 | 24336498 |
ATM | 795 | COSM6495411, | skin | malignant_melanoma | p.L1420F | Substitution - Missense | 11:108289623-108289623, | NEUTRAL | 0.49461 | 28481359 |
ATM | 795 | COSM6495411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L1420F | Substitution - Missense | 11:108289623-108289623, | NEUTRAL | 0.49461 | 27534895 |
ATM | 795 | COSM6495411, | NS | malignant_melanoma | p.L1420F | Substitution - Missense | 11:108289623-108289623, | NEUTRAL | 0.49461 | 24336498 |
ATM | 795 | COSM6916817, | biliary_tract | carcinoma | p.L1144* | Substitution - Nonsense | 11:108281023-108281023, | NEUTRAL | 0.49326 | 28481359 |
ATM | 795 | COSM4745880, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R1898Q | Substitution - Missense | 11:108307915-108307915, | NEUTRAL | 0.49042 | 25480502 |
ATM | 795 | COSM6917517, | lung | carcinoma | p.G844V | Substitution - Missense | 11:108267235-108267235, | NEUTRAL | 0.47531 | 28481359 |
ATM | 795 | COSM6943533, | prostate | carcinoma | p.D211E | Substitution - Missense | 11:108244089-108244089, | NEUTRAL | 0.46148 | 28481359 |
ATM | 795 | COSM6947459, | oesophagus | carcinoma | p.V2823I | Substitution - Missense | 11:108345791-108345791, | NEUTRAL | 0.45963 | 28481359 |
ATM | 795 | COSM1183959, | biliary_tract | carcinoma | p.R805* | Substitution - Nonsense | 11:108259022-108259022, | NEUTRAL | 0.42406 | 28481359 |
ATM | 795 | COSM1183959, | large_intestine | carcinoma | p.R805* | Substitution - Nonsense | 11:108259022-108259022, | NEUTRAL | 0.42406 | 28481359 |
ATM | 795 | COSM1183959, | salivary_gland | carcinoma | p.R805* | Substitution - Nonsense | 11:108259022-108259022, | NEUTRAL | 0.42406 | 27334835 |
ATM | 795 | COSM1183959, | breast | carcinoma | p.R805* | Substitution - Nonsense | 11:108259022-108259022, | NEUTRAL | 0.42406 | 27284958 |
ATM | 795 | COSM5009761, | large_intestine | carcinoma | p.V2201I | Substitution - Missense | 11:108325338-108325338, | NEUTRAL | 0.42153 | 24951259 |
ATM | 795 | COSM6925257, | lung | carcinoma | p.T1363S | Substitution - Missense | 11:108287693-108287693, | NEUTRAL | 0.4044 | 28481359 |
ATM | 795 | COSM6981943, | endometrium | carcinoma | p.E1133* | Substitution - Nonsense | 11:108279603-108279603, | NEUTRAL | 0.39093 | 28481359 |
ATM | 795 | COSM6911474, | NS | malignant_melanoma | p.I1167M | Substitution - Missense | 11:108281093-108281093, | NEUTRAL | 0.36243 | 28481359 |
ATM | 795 | COSM22486, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M1040V | Substitution - Missense | 11:108272572-108272572, | NEUTRAL | 0.36038 | 25480502 |
ATM | 795 | COSM22486, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M1040V | Substitution - Missense | 11:108272572-108272572, | NEUTRAL | 0.36038 | 9288106 |
ATM | 795 | COSM1684709, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L1206V | Substitution - Missense | 11:108282749-108282749, | NEUTRAL | 0.33802 | 23960188 |
ATM | 795 | COSM6854464, | large_intestine | carcinoma | p.S515N | Substitution - Missense | 11:108251009-108251009, | NEUTRAL | 0.32278 | 28978093 |
ATM | 795 | COSM4990072, | skin | carcinoma | p.Q1535Q | Substitution - coding silent | 11:108292787-108292787, | NEUTRAL | 0.30901 | 25589618 |
ATM | 795 | COSM5607889, | skin | malignant_melanoma | p.S2116N | Substitution - Missense | 11:108317521-108317521, | NEUTRAL | 0.30119 | 26343386 |
ATM | 795 | COSM6966659, | lung | carcinoma | p.A1976S | Substitution - Missense | 11:108312418-108312418, | NEUTRAL | 0.29634 | 28481359 |
ATM | 795 | COSM24627, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.H1380Y | Substitution - Missense | 11:108289005-108289005, | NEUTRAL | 0.2945 | 12149228 |
ATM | 795 | COSM6854047, | large_intestine | carcinoma | p.A1634A | Substitution - coding silent | 11:108295052-108295052, | NEUTRAL | 0.29247 | 28978093 |
ATM | 795 | COSM48245, | lung | carcinoma | p.R2453P | Substitution - Missense | 11:108330264-108330264, | NEUTRAL | 0.27393 | 18948947 |
ATM | 795 | COSM5575316, | ovary | carcinoma | p.V849L | Substitution - Missense | 11:108267249-108267249, | NEUTRAL | 0.26528 | 25846551 |
ATM | 795 | COSM6924800, | lung | carcinoma | p.E1133Q | Substitution - Missense | 11:108279603-108279603, | NEUTRAL | 0.26365 | 28481359 |
ATM | 795 | COSM6939539, | large_intestine | carcinoma | p.I1035V | Substitution - Missense | 11:108272557-108272557, | NEUTRAL | 0.25014 | 28481359 |
ATM | 795 | COSM6951094, | skin | adnexal_tumour | p.D1781N | Substitution - Missense | 11:108302874-108302874, | NEUTRAL | 0.23185 | 28481359 |
ATM | 795 | COSM5020260, | soft_tissue | haemangioblastoma | p.L546V | Substitution - Missense | 11:108251865-108251865, | NEUTRAL | 0.22715 | 25589003 |
ATM | 795 | COSM1731915, | large_intestine | carcinoma | p.Q852* | Substitution - Nonsense | 11:108267258-108267258, | NEUTRAL | 0.22542 | 27756406 |
ATM | 795 | COSM1731915, | lung | carcinoma | p.Q852* | Substitution - Nonsense | 11:108267258-108267258, | NEUTRAL | 0.22542 | 26645239 |
ATM | 795 | COSM6495409, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D203D | Substitution - coding silent | 11:108244065-108244065, | NEUTRAL | 0.22213 | 27534895 |
ATM | 795 | COSM6196826, | large_intestine | carcinoma | p.S854F | Substitution - Missense | 11:108267265-108267265, | NEUTRAL | 0.20908 | 27756406 |
ATM | 795 | COSM22510, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y2817* | Substitution - Nonsense | 11:108345775-108345775, | NEUTRAL | 0.19809 | 16461462 |
ATM | 795 | COSM5575545, | ovary | carcinoma | p.L1827L | Substitution - coding silent | 11:108303012-108303012, | NEUTRAL | 0.19626 | 25846551 |
ATM | 795 | COSM5049713, | oesophagus | carcinoma | p.P2056S | Substitution - Missense | 11:108316081-108316081, | NEUTRAL | 0.19324 | 24686850 |
ATM | 795 | COSM6853845, | large_intestine | carcinoma | p.N1071N | Substitution - coding silent | 11:108272781-108272781, | NEUTRAL | 0.19157 | 28978093 |
ATM | 795 | COSM48858, | lung | carcinoma | p.S853* | Substitution - Nonsense | 11:108267262-108267262, | NEUTRAL | 0.18736 | 18948947 |
ATM | 795 | COSM5019227, | ovary | carcinoma | p.? | Unknown | 11:108304667-108304667, | NEUTRAL | 0.18665 | 25846551 |
ATM | 795 | COSM5019227, | soft_tissue | haemangioblastoma | p.? | Unknown | 11:108304667-108304667, | NEUTRAL | 0.18665 | 25589003 |
ATM | 795 | COSM5019227, | soft_tissue | haemangioblastoma | p.? | Unknown | 11:108304667-108304667, | NEUTRAL | 0.18665 | 25589003 |
ATM | 795 | COSM5019227, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108304667-108304667, | NEUTRAL | 0.18665 | 27534895 |
ATM | 795 | COSM5019227, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108304667-108304667, | NEUTRAL | 0.18665 | 27534895 |
ATM | 795 | COSM5019227, | soft_tissue | haemangioblastoma | p.? | Unknown | 11:108304667-108304667, | NEUTRAL | 0.18665 | 25589003 |
ATM | 795 | COSM5019227, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108304667-108304667, | NEUTRAL | 0.18665 | 27534895 |
ATM | 795 | COSM22498, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D126E | Substitution - Missense | 11:108235716-108235716, | NEUTRAL | 0.17956 | 27534895 |
ATM | 795 | COSM22498, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D126E | Substitution - Missense | 11:108235716-108235716, | NEUTRAL | 0.17956 | 27534895 |
ATM | 795 | COSM22498, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D126E | Substitution - Missense | 11:108235716-108235716, | NEUTRAL | 0.17956 | 27534895 |
ATM | 795 | COSM22498, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D126E | Substitution - Missense | 11:108235716-108235716, | NEUTRAL | 0.17956 | 27534895 |
ATM | 795 | COSM22498, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D126E | Substitution - Missense | 11:108235716-108235716, | NEUTRAL | 0.17956 | 12697903 |
ATM | 795 | COSM5019459, | soft_tissue | haemangioblastoma | p.P1526P | Substitution - coding silent | 11:108292760-108292760, | NEUTRAL | 0.17533 | 25589003 |
ATM | 795 | COSM5019459, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P1526P | Substitution - coding silent | 11:108292760-108292760, | NEUTRAL | 0.17533 | 27534895 |
ATM | 795 | COSM5019459, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P1526P | Substitution - coding silent | 11:108292760-108292760, | NEUTRAL | 0.17533 | 27534895 |
ATM | 795 | COSM5575314, | ovary | carcinoma | p.S676Y | Substitution - Missense | 11:108253942-108253942, | NEUTRAL | 0.17314 | 25846551 |
ATM | 795 | COSM5575314, | ovary | carcinoma | p.S676Y | Substitution - Missense | 11:108253942-108253942, | NEUTRAL | 0.17314 | 25846551 |
ATM | 795 | COSM6918895, | large_intestine | carcinoma | p.S1499I | Substitution - Missense | 11:108292678-108292678, | NEUTRAL | 0.16618 | 28481359 |
ATM | 795 | COSM5008376, | large_intestine | carcinoma | p.Y2036Y | Substitution - coding silent | 11:108316023-108316023, | NEUTRAL | 0.15584 | 24951259 |
ATM | 795 | COSM41595, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.S707P | Substitution - Missense | 11:108254034-108254034, | NEUTRAL | 0.15133 | 27534895 |
ATM | 795 | COSM41595, | breast | carcinoma | p.S707P | Substitution - Missense | 11:108254034-108254034, | NEUTRAL | 0.15133 | 20177704 |
ATM | 795 | COSM41595, | breast | carcinoma | p.S707P | Substitution - Missense | 11:108254034-108254034, | NEUTRAL | 0.15133 | 20177704 |
ATM | 795 | COSM41595, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.S707P | Substitution - Missense | 11:108254034-108254034, | NEUTRAL | 0.15133 | 27534895 |
ATM | 795 | COSM5575571, | ovary | carcinoma | p.L1827I | Substitution - Missense | 11:108303012-108303012, | NEUTRAL | 0.14744 | 25846551 |
ATM | 795 | COSM6849608, | breast | carcinoma | p.V245V | Substitution - coding silent | 11:108244860-108244860, | NEUTRAL | 0.14521 | 28270497 |
ATM | 795 | COSM5607893, | skin | malignant_melanoma | p.G1065G | Substitution - coding silent | 11:108272763-108272763, | NEUTRAL | 0.13754 | 26343386 |
ATM | 795 | COSM6854418, | large_intestine | carcinoma | p.N1784D | Substitution - Missense | 11:108302883-108302883, | NEUTRAL | 0.13666 | 28978093 |
ATM | 795 | COSM24629, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.H996Q | Substitution - Missense | 11:108271317-108271317, | NEUTRAL | 0.13503 | 12149228 |
ATM | 795 | COSM5008374, | large_intestine | carcinoma | p.G1788S | Substitution - Missense | 11:108302895-108302895, | NEUTRAL | 0.13165 | 24951259 |
ATM | 795 | COSM5008374, | stomach | carcinoma | p.G1788S | Substitution - Missense | 11:108302895-108302895, | NEUTRAL | 0.13165 | 25656989 |
ATM | 795 | COSM6987404, | breast | carcinoma | p.V2808A | Substitution - Missense | 11:108345747-108345747, | NEUTRAL | 0.13061 | 28481359 |
ATM | 795 | COSM5009679, | pancreas | carcinoma | p.N1650S | Substitution - Missense | 11:108297326-108297326, | NEUTRAL | 0.11793 | 28481359 |
ATM | 795 | COSM5009679, | large_intestine | carcinoma | p.N1650S | Substitution - Missense | 11:108297326-108297326, | NEUTRAL | 0.11793 | 24951259 |
ATM | 795 | COSM6951965, | biliary_tract | carcinoma | p.A2324P | Substitution - Missense | 11:108326220-108326220, | NEUTRAL | 0.11137 | 28481359 |
ATM | 795 | COSM6911433, | lung | carcinoma | p.L2128V | Substitution - Missense | 11:108319988-108319988, | NEUTRAL | 0.10029 | 28481359 |
ATM | 795 | COSM6914615, | central_nervous_system | glioma | p.F1877L | Substitution - Missense | 11:108304807-108304807, | NEUTRAL | 0.09685 | 28481359 |
ATM | 795 | COSM6945546, | lung | carcinoma | p.S853L | Substitution - Missense | 11:108267262-108267262, | NEUTRAL | 0.09452 | 28481359 |
ATM | 795 | COSM5020324, | soft_tissue | haemangioblastoma | p.P872S | Substitution - Missense | 11:108267318-108267318, | NEUTRAL | 0.09101 | 25589003 |
ATM | 795 | COSM6854531, | large_intestine | other | p.T2113S | Substitution - Missense | 11:108317512-108317512, | NEUTRAL | 0.08576 | 28524162 |
ATM | 795 | COSM24636, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F570S | Substitution - Missense | 11:108251938-108251938, | NEUTRAL | 0.08531 | 12149228 |
ATM | 795 | COSM6955134, | large_intestine | carcinoma | p.I2260T | Substitution - Missense | 11:108325516-108325516, | NEUTRAL | 0.08058 | 28481359 |
ATM | 795 | COSM1162927, | endometrium | carcinoma | p.R692H | Substitution - Missense | 11:108253990-108253990, | NEUTRAL | 0.08034 | 28481359 |
ATM | 795 | COSM6987538, | breast | carcinoma | p.D863Y | Substitution - Missense | 11:108267291-108267291, | NEUTRAL | 0.07256 | 28481359 |
ATM | 795 | COSM5025000, | breast | carcinoma | p.C1899* | Substitution - Nonsense | 11:108307919-108307919, | NEUTRAL | 0.07212 | 25850943 |
ATM | 795 | COSM6005492, | NS | malignant_melanoma | p.T1757I | Substitution - Missense | 11:108301740-108301740, | NEUTRAL | 0.07211 | 25148578 |
ATM | 795 | COSM6196811, | large_intestine | carcinoma | p.Y1717C | Substitution - Missense | 11:108299858-108299858, | NEUTRAL | 0.07139 | 27756406 |
ATM | 795 | COSM6941167, | NS | carcinoma | p.L1700F | Substitution - Missense | 11:108299806-108299806, | NEUTRAL | 0.07035 | 28481359 |
ATM | 795 | COSM22527, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S207C | Substitution - Missense | 11:108244076-108244076, | NEUTRAL | 0.06831 | 16461462 |
ATM | 795 | COSM6854383, | large_intestine | carcinoma | p.? | Unknown | 11:108227704-108227704, | NEUTRAL | 0.06666 | 28978093 |
ATM | 795 | COSM6854383, | large_intestine | carcinoma | p.? | Unknown | 11:108227704-108227704, | NEUTRAL | 0.06666 | 28978093 |
ATM | 795 | COSM6955394, | soft_tissue | liposarcoma | p.H1895Y | Substitution - Missense | 11:108307905-108307905, | NEUTRAL | 0.06656 | 28481359 |
ATM | 795 | COSM6986539, | lung | carcinoma | p.S677N | Substitution - Missense | 11:108253945-108253945, | NEUTRAL | 0.06407 | 28481359 |
ATM | 795 | COSM6922306, | lung | carcinoma | p.R469S | Substitution - Missense | 11:108250872-108250872, | NEUTRAL | 0.06327 | 28481359 |
ATM | 795 | COSM5575287, | ovary | carcinoma | p.? | Unknown | 11:108304671-108304671, | NEUTRAL | 0.06186 | 25846551 |
ATM | 795 | COSM6920304, | central_nervous_system | glioma | p.Y731* | Substitution - Nonsense | 11:108256283-108256283, | NEUTRAL | 0.0606 | 28481359 |
ATM | 795 | COSM6936315, | pancreas | carcinoma | p.T554K | Substitution - Missense | 11:108251890-108251890, | NEUTRAL | 0.05688 | 28481359 |
ATM | 795 | COSM6971134, | pancreas | carcinoma | p.A799T | Substitution - Missense | 11:108259004-108259004, | NEUTRAL | 0.05681 | 28481359 |
ATM | 795 | COSM6196831, | large_intestine | carcinoma | p.T1808I | Substitution - Missense | 11:108302956-108302956, | NEUTRAL | 0.0568 | 27756406 |
ATM | 795 | COSM1704536, | skin | malignant_melanoma | p.S207F | Substitution - Missense | 11:108244076-108244076, | NEUTRAL | 0.05679 | 26343386 |
ATM | 795 | COSM6906622, | urinary_tract | carcinoma | p.D863N | Substitution - Missense | 11:108267291-108267291, | NEUTRAL | 0.05653 | 29420467 |
ATM | 795 | COSM6906622, | urinary_tract | carcinoma | p.D863N | Substitution - Missense | 11:108267291-108267291, | NEUTRAL | 0.05653 | 29420467 |
ATM | 795 | COSM6906622, | urinary_tract | carcinoma | p.D863N | Substitution - Missense | 11:108267291-108267291, | NEUTRAL | 0.05653 | 28481359 |
ATM | 795 | COSM6912739, | breast | carcinoma | p.M1006I | Substitution - Missense | 11:108271347-108271347, | NEUTRAL | 0.05621 | 28481359 |
ATM | 795 | COSM4990066, | skin | carcinoma | p.H943H | Substitution - coding silent | 11:108268600-108268600, | NEUTRAL | 0.05579 | 25589618 |
ATM | 795 | COSM5009199, | large_intestine | carcinoma | p.S629S | Substitution - coding silent | 11:108252901-108252901, | NEUTRAL | 0.05051 | 24951259 |
ATM | 795 | COSM4990090, | skin | carcinoma | p.Q2800Q | Substitution - coding silent | 11:108343353-108343353, | NEUTRAL | 0.04866 | 25589618 |
ATM | 795 | COSM5575274, | ovary | carcinoma | p.? | Unknown | 11:108299895-108299895, | NEUTRAL | 0.04501 | 25846551 |
ATM | 795 | COSM6005469, | breast | other | p.R720G | Substitution - Missense | 11:108256248-108256248, | NEUTRAL | 0.03948 | 26806567 |
ATM | 795 | COSM6960009, | large_intestine | carcinoma | p.T1864A | Substitution - Missense | 11:108304768-108304768, | NEUTRAL | 0.03908 | 28481359 |
ATM | 795 | COSM6919288, | large_intestine | carcinoma | p.R1205C | Substitution - Missense | 11:108282746-108282746, | NEUTRAL | 0.03832 | 28481359 |
ATM | 795 | COSM6854127, | large_intestine | carcinoma | p.? | Unknown | 11:108335116-108335116, | NEUTRAL | 0.03709 | 28978093 |
ATM | 795 | COSM28735, | central_nervous_system | glioma | p.? | Unknown | 11:108304644-108304644, | NEUTRAL | 0.03579 | 18465141 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6493991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 11:108353888-108353888, | NEUTRAL | 0.03333 | 27534895 |
ATM | 795 | COSM6973055, | breast | carcinoma | p.M1755I | Substitution - Missense | 11:108301735-108301735, | NEUTRAL | 0.02898 | 28481359 |
ATM | 795 | COSM5020327, | soft_tissue | haemangioblastoma | p.L895L | Substitution - coding silent | 11:108268456-108268456, | NEUTRAL | 0.02811 | 25589003 |
ATM | 795 | COSM6493970, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Q418Q | Substitution - coding silent | 11:108250719-108250719, | NEUTRAL | 0.02367 | 27534895 |
ATM | 795 | COSM6493970, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Q418Q | Substitution - coding silent | 11:108250719-108250719, | NEUTRAL | 0.02367 | 27534895 |
ATM | 795 | COSM592, | breast | carcinoma | p.T935T | Substitution - coding silent | 11:108268576-108268576, | NEUTRAL | 0.02279 | 15908952 |
ATM | 795 | COSM5010077, | large_intestine | carcinoma | p.L443L | Substitution - coding silent | 11:108250794-108250794, | NEUTRAL | 0.02242 | 24951259 |
ATM | 795 | COSM5575233, | ovary | carcinoma | p.F771S | Substitution - Missense | 11:108257542-108257542, | NEUTRAL | 0.02164 | 25846551 |
ATM | 795 | COSM6854466, | large_intestine | carcinoma | p.F1036S | Substitution - Missense | 11:108272561-108272561, | NEUTRAL | 0.02134 | 28978093 |
ATM | 795 | COSM3443144, | skin | malignant_melanoma | p.S941S | Substitution - coding silent | 11:108268594-108268594, | NEUTRAL | 0.0205 | 26343386 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM4590264, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N1983S | Substitution - Missense | 11:108312440-108312440, | NEUTRAL | 0.01321 | 27534895 |
ATM | 795 | COSM5575779, | stomach | carcinoma | p.T878A | Substitution - Missense | 11:108267336-108267336, | NEUTRAL | 0.01214 | 26489445 |
ATM | 795 | COSM5020297, | soft_tissue | haemangioblastoma | p.Y731Y | Substitution - coding silent | 11:108256283-108256283, | NEUTRAL | 0.0114 | 25589003 |
ATM | 795 | COSM2110410, | large_intestine | carcinoma | p.Y959Y | Substitution - coding silent | 11:108271102-108271102, | NEUTRAL | 0.00868 | 28978093 |
ATM | 795 | COSM6606889, | biliary_tract | carcinoma | p.R832H | Substitution - Missense | 11:108267199-108267199, | NEUTRAL | 0.00824 | 28481359 |
ATM | 795 | COSM6917960, | NS | carcinoma | p.R832L | Substitution - Missense | 11:108267199-108267199, | NEUTRAL | 0.00616 | 28481359 |
ATM | 795 | COSM143902, | pancreas | carcinoid-endocrine_tumour | p.R832C | Substitution - Missense | 11:108267198-108267198, | NEUTRAL | 0.00501 | 21447618 |
ATM | 795 | COSM143902, | large_intestine | carcinoma | p.R832C | Substitution - Missense | 11:108267198-108267198, | NEUTRAL | 0.00501 | 28481359 |
ATM | 795 | COSM4990088, | skin | carcinoma | p.N2603N | Substitution - coding silent | 11:108332782-108332782, | NEUTRAL | 0.00373 | 25589618 |
ATM | 795 | COSM6493987, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V2079I | Substitution - Missense | 11:108317409-108317409, | NEUTRAL | 0.00345 | 27534895 |
ATM | 795 | COSM6493987, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V2079I | Substitution - Missense | 11:108317409-108317409, | NEUTRAL | 0.00345 | 27534895 |
ATM | 795 | COSM6493987, | biliary_tract | carcinoma | p.V2079I | Substitution - Missense | 11:108317409-108317409, | NEUTRAL | 0.00345 | 29360550 |
ATM | 795 | COSM21639, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.?fs, p.R1304fs*43 | Deletion - Frameshift, Insertion - Frameshift | 11:108284390-108284396, | Info_not_available | Info_not_available | 10023947 |
ATM | 795 | COSM21632, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K2418_R2419insK, p.M2805fs*1 | Deletion - Frameshift, Insertion - In frame | 11:108343365-108343365, | Info_not_available | Info_not_available | 10397742 |
ATM | 795 | COSM21649, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A2631fs*2, p.K2213fs*22, p.K2237fs*11, p.L2450fs*11 | Deletion - Frameshift, Insertion - Frameshift | 11:108332863-108332864, | Info_not_available | Info_not_available | 10706620 |
ATM | 795 | COSM22490, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E26fs*7, p.E522fs*43, p.I1332fs*27 | Deletion - Frameshift, Insertion - Frameshift | 11:108251029-108251030, | Info_not_available | Info_not_available | 11756177 |
ATM | 795 | COSM21650, | breast | carcinoma | p.M855fs*24 | Deletion - Frameshift | 11:108267267-108267270, | Info_not_available | Info_not_available | 11793440 |
ATM | 795 | COSM22496, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E522fs*43, p.F168_V170>L, p.T261fs*10 | Complex - deletion inframe, Deletion - Frameshift, Insertion - Frameshift | 11:108251027-108251028, | Info_not_available | Info_not_available | 12697903 |
ATM | 795 | COSM22535, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A2893fs*3, p.C693_Q700>E, p.E1612_Q1620>*, p.F1209fs*19, p.F1683fs*7, p.I1237fs*2, p.I2055fs*33, p.L1708fs*6, p.L895fs*4, p.R2400fs*6, p.T1735fs*11, p.T2911delT | Complex - deletion inframe, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift | 11:108353826-108353828, | Info_not_available | Info_not_available | 16461462 |
ATM | 795 | COSM48950, | lung | carcinoma | p.F2799fs*4, p.P1829fs*5 | Deletion - Frameshift | 11:108343348-108343357, | Info_not_available | Info_not_available | 18948947 |
ATM | 795 | COSM28397, | kidney | carcinoma | p.S151fs*2 | Deletion - Frameshift | 11:108235789-108235789, | Info_not_available | Info_not_available | 20054297 |
ATM | 795 | COSM132880, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.E26fs*8 | Deletion - Frameshift | 11:108227776-108227776, | Info_not_available | Info_not_available | 21909114 |
ATM | 795 | COSM132866, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V835fs*7 | Insertion - Frameshift | 11:108267205-108267206, | Info_not_available | Info_not_available | 21993670 |
ATM | 795 | COSM249410, | kidney | carcinoma | p.E1664fs*5 | Deletion - Frameshift | 11:108297367-108297367, | Info_not_available | Info_not_available | 22138691 |
ATM | 795 | COSM144149, | central_nervous_system | glioma | p.P604S | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22190243 |
ATM | 795 | COSM210744, | large_intestine, lung | carcinoma | p.K2811fs*46, p.N429fs*7, p.R1875*, p.V997fs*1 | Frameshift, Substitution - Nonsense, Unknown | Info_not_available | Info_not_available | Info_not_available | 22327622 |
ATM | 795 | COSM758348, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.?, p.C907fs*1, p.E2126fs*1, p.E73fs*26, p.F336_A340delFRNIA, p.K2331fs*6, p.K2810fs*1, p.K468fs*18, p.L1238fs*6, p.N1240fs*4, p.N206fs*24, p.R2547_S2549delRIS, p.S160fs*23, p.Y731fs*1 | Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Unknown | 11:108345752-108345774, | Info_not_available | Info_not_available | 23091097 |
ATM | 795 | COSM1133052, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S1601fs*4 | Insertion - Frameshift | 11:108294951-108294952, | Info_not_available | Info_not_available | 23091298 |
ATM | 795 | COSM1272072, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E737fs*16, p.I1332fs*7, p.L1448fs*3, p.M557fs*3, p.N2326fs*5, p.R1106fs*3, p.R2191fs*44, p.S227fs*1, p.S334fs*5, p.T2773fs*4, p.W393fs*1, p.Y2049fs*33, p.Y2833fs*1 | Complex - frameshift, Deletion - Frameshift, Insertion - Frameshift | 11:108345821-108345822, | Info_not_available | Info_not_available | 23407552 |
ATM | 795 | COSM758338, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.?, p.K468fs*18, p.M1916_R1917>I, p.R777fs*2, p.V1268fs*1 | Complex - deletion inframe, Deletion - Frameshift, Unknown | 11:108330422-108330423, | Info_not_available | Info_not_available | 23585524 |
ATM | 795 | COSM1666897, | lung | carcinoma | p.Q201* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 23724914 |
ATM | 795 | COSM1666615, | ovary | carcinoma | p.R2443* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 23791828 |
ATM | 795 | COSM1716310, | lung | carcinoma | p.C2021Y, p.D2721N, p.D588Y, p.L2890P | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24069199 |
ATM | 795 | COSM1716842, | breast | carcinoma | p.L243S | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24201163 |
ATM | 795 | COSM1735700, | skin | carcinoma | p.G529R | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24335643 |
ATM | 795 | COSM3724462, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E2126fs*1, p.L1295del | Deletion - In frame, Insertion - Frameshift | 11:108319981-108319982, | Info_not_available | Info_not_available | 24584352 |
ATM | 795 | COSM3733195, | pancreas | other | p.R337C | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24604757 |
ATM | 795 | COSM4169410, | skin | malignant_melanoma | p.V1944I | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24618614 |
ATM | 795 | COSM4172574, | skin | malignant_melanoma | p.D1853V, p.E498Q, p.F1463C, p.I2030V, p.L2307F, p.P1054R, p.P1526L, p.P604S, p.S1691R | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24628946 |
ATM | 795 | COSM4169327, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R3008H | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24674452 |
ATM | 795 | COSM758340, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E1971fs*19, p.E277fs*4, p.E73fs*26, p.G696fs*7, p.K2811delK, p.L1238fs*6, p.L2633fs*23, p.L3010delL, p.P2759fs*8 | Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift | 11:108365364-108365366, | Info_not_available | Info_not_available | 24682267 |
ATM | 795 | COSM5574329, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N765fs*12 | Deletion - Frameshift | 11:108257520-108257520, | Info_not_available | Info_not_available | 24920063 |
ATM | 795 | COSM3773387, | liver | carcinoma | p.K53fs*3 | Unknown | Info_not_available | Info_not_available | Info_not_available | 24931142 |
ATM | 795 | COSM5010318, | large_intestine | carcinoma | p.F61fs*15, p.F803fs*5, p.I1581fs*5, p.K2811fs*46, p.S1993fs*2 | Deletion - Frameshift, Insertion - Frameshift | 11:108345750-108345750, | Info_not_available | Info_not_available | 24951259 |
ATM | 795 | COSM4169841, | adrenal_gland | adrenal_cortical_carcinoma | p.R189K, p.R3008C, p.R337H | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25078331 |
ATM | 795 | COSM3733195, | pancreas | other | p.R337C | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25127237 |
ATM | 795 | COSM6005493, | NS | malignant_melanoma | p.?, p.L1737S | Substitution - Missense, Unknown | 11:108301680-108301681, | Info_not_available | Info_not_available | 25148578 |
ATM | 795 | COSM5945737, | central_nervous_system | glioma | p.V410A | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25257301 |
ATM | 795 | COSM4603653, | pancreas | carcinoma | p.E2139*, p.R189K, p.R309fs*8 | Frameshift, Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 25266736 |
ATM | 795 | COSM5945667, | stomach | carcinoid-endocrine_tumour | p.S1923del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 25342539 |
ATM | 795 | COSM5413600, | prostate | carcinoma | p.E2007fs*11, p.K215fs*15, p.N1983fs*7 | Complex - frameshift, Deletion - Frameshift, Insertion - Frameshift | 11:108315830-108315831, | Info_not_available | Info_not_available | 25586381 |
ATM | 795 | COSM6856678, | large_intestine | carcinoma | p.V2617I | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25589621 |
ATM | 795 | COSM5575303, | ovary | carcinoma | p.? | Unknown | 11:108279481-108279481, | Info_not_available | Info_not_available | 25846551 |
ATM | 795 | COSM5731077, | NS | malignant_melanoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 25886620 |
ATM | 795 | COSM5967541, | lung | carcinoma | p.K1964fs*19 | Deletion - Frameshift | 11:108310288-108310309, | Info_not_available | Info_not_available | 25964588 |
ATM | 795 | COSM6024537, | NS | carcinoma | p.?, p.D2708N, p.R2443Q, p.R250*, p.R337H, p.W57* | Substitution - Missense, Substitution - Nonsense, Unknown | Info_not_available | Info_not_available | Info_not_available | 26182302 |
ATM | 795 | COSM6848508, | central_nervous_system | glioma | p.Q1689* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 26191234 |
ATM | 795 | COSM5415330, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.C107F, p.C12*, p.E2039G, p.E28K, p.F2827L, p.G2072R, p.G2695V, p.K2657N, p.L2427R, p.N1855S, p.P1069S, p.P2353S, p.Q2800*, p.S1863F, p.W524*, p.Y2437D | Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 26282654 |
ATM | 795 | COSM5611231, | skin | malignant_melanoma | p.H291_P292>QM | Complex - compound substitution | 11:108244998-108245000, | Info_not_available | Info_not_available | 26343386 |
ATM | 795 | COSM4745907, | stomach | carcinoma | p.I2629fs*25 | Deletion - Frameshift | 11:108332851-108332855, | Info_not_available | Info_not_available | 26489445 |
ATM | 795 | COSM6906887, | urinary_tract | carcinoma | p.D932fs*32 | Deletion - Frameshift | 11:108268564-108268577, | Info_not_available | Info_not_available | 29420467 |
ATM | 795 | COSM6845100, | lung | carcinoma | p.C252fs*1 | Frameshift | Info_not_available | Info_not_available | Info_not_available | 28088512 |
ATM | 795 | COSM6495711, | large_intestine | carcinoma | p.P2842L, p.R250*, p.R3008H, p.Y332C | Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 26650777 |
ATM | 795 | COSM1235396, | large_intestine | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 28465371 |
ATM | 795 | COSM3733195, | skin | malignant_melanoma | p.R337C | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28870692 |
ATM | 795 | COSM6904767, | urinary_tract | carcinoma | p.?, p.C2704S, p.E2164K, p.R337H | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 28945843 |
ATM | 795 | COSM6842406, | skin | carcinoma | p.G873fs*7, p.Q1689fs*25 | Deletion - Frameshift | 11:108299774-108299774, | Info_not_available | Info_not_available | 28984303 |
ATM | 795 | COSM6196727, | large_intestine | carcinoma | p.? | Unknown | 11:108320059-108320059, | Info_not_available | Info_not_available | 29029407 |
ATM | 795 | COSM6856692, | thyroid | carcinoma | p.H996R, p.R19T | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 29144541 |
ATM | 795 | COSM1351020, | breast | carcinoma | p.K2811fs*46 | Deletion - Frameshift | 11:108345750-108345750, | Info_not_available | Info_not_available | 28270497 |
ATM | 795 | COSM3733195, | liver | carcinoma | p.R337C | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 29487225 |
ATM | 795 | COSM7002350, | central_nervous_system | glioma | p.W1710* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 29683790 |
ATM | 795 | COSM7002425, | central_nervous_system | glioma | p.F858L, p.L459I, p.P1112H, p.P292L, p.R2443*, p.R250* | Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 29763623 |
ATM | 795 | COSM22484, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K2811delK, p.R2547_S2549delRIS, p.R2871_H2872>S, p.S707fs*29, p.Y1392fs*7, p.Y2627fs*29 | Complex - deletion inframe, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift | 11:108347307-108347309, | Info_not_available | Info_not_available | 9288106 |
ATM | 795 | COSM21901, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.?, p.V1292_Q1331del40 | Deletion - In frame, Unknown | 11:108284353-108284472, | Info_not_available | Info_not_available | 9334731 |
ATM | 795 | COSM21942, | NS | malignant_melanoma | p.W2845* | Substitution - Nonsense | 11:108345858-108345859, | Info_not_available | Info_not_available | 9459139 |
ATM | 795 | COSM22492, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.?, p.I1332fs*27, p.K902fs*18 | Insertion - Frameshift, Unknown | 11:108268473-108268474, | Info_not_available | Info_not_available | 9573030 |
ATM | 795 | COSM6845274, | salivary_gland | carcinoma | p.F858L, p.V410A | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27379604 |
ATM | 795 | COSM6023797, | kidney | carcinoma | p.?, p.N2501fs*14, p.S1008fs*1 | Deletion - Frameshift, Unknown | 11:108330406-108330407, | Info_not_available | Info_not_available | 26831717 |
ATM | 795 | COSM5731122, | breast | other | p.D1848delD | Deletion - In frame | 11:108304717-108304719, | Info_not_available | Info_not_available | 26832993 |
ATM | 795 | COSM6506584, | breast | carcinoma | p.A350E, p.N1801D, p.Q355* | Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 27034166 |
ATM | 795 | COSM5946056, | pancreas | carcinoma | p.G724fs*11 | Deletion - Frameshift | 11:108256261-108256261, | Info_not_available | Info_not_available | 27203738 |
ATM | 795 | COSM6006430, | thyroid | carcinoma | p.L804fs*4, p.S978fs*12 | Frameshift | Info_not_available | Info_not_available | Info_not_available | 27207748 |
ATM | 795 | COSM4169841, | biliary_tract | carcinoma | p.R189K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27267833 |
ATM | 795 | COSM6856770, | breast | carcinoma | p.T878fs*4 | Deletion - Frameshift | 11:108267337-108267341, | Info_not_available | Info_not_available | 27284958 |
ATM | 795 | COSM5967128, | salivary_gland | carcinoma | p.W484fs*2 | Deletion - Frameshift | 11:108250914-108250915, | Info_not_available | Info_not_available | 27334835 |
ATM | 795 | COSM6997561, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K1536E | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27872090 |
ATM | 795 | COSM5967230, | central_nervous_system | glioma | p.?fs*? | Frameshift | Info_not_available | Info_not_available | Info_not_available | 27425854 |
ATM | 795 | COSM6022891, | lung | carcinoma | p.E708G | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27528220 |
ATM | 795 | COSM5985667, | lung | carcinoma | p.Q2593* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 27588476 |
ATM | 795 | COSM6019362, | thyroid | carcinoma | p.L1910R | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27785980 |
ATM | 795 | COSM21933, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.C353fs*5, p.I1681V, p.L1764fs*12, p.L2945fs*7, p.R2273fs*37, p.V976_C977ins3 | Deletion - Frameshift, Insertion - In frame, Substitution - Missense | 11:108326065-108326065, | Info_not_available | 0.67063, Info_not_available | 16014569 |
ATM | 795 | COSM4745907, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E1666fs*2, p.E2479fs*24, p.E3022fs*37, p.E522fs*43, p.F903fs*17, p.G2772fs*34, p.I2629fs*25, p.P2775fs*5, p.Q1636fs*10, p.Q2684*, p.T2978fs*7, p.V1734del, p.Y1034fs*1 | Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Substitution - Nonsense | 11:108365401-108365402, | Info_not_available | 0.66891, Info_not_available | 25480502 |
ATM | 795 | COSM6987767, | upper_aerodigestive_tract | carcinoma | p.E522fs*43, p.Y67* | Deletion - Frameshift, Substitution - Nonsense | 11:108251029-108251030, | Info_not_available | 0.60046, Info_not_available | 28581676 |
ATM | 795 | COSM4990074, | skin | carcinoma | p.T2122T | Substitution - coding silent | 11:108319972-108319972, | Info_not_available | 0.54291 | 25589618 |
ATM | 795 | COSM6196833, | large_intestine | carcinoma | p.K1698fs*16, p.N1326S, p.T1711I | Deletion - Frameshift, Substitution - Missense | 11:108299840-108299840, | Info_not_available | 0.53254, .67502, Info_not_available | 27756406 |
ATM | 795 | COSM6987716, | NS, biliary_tract, breast, central_nervous_system, endometrium, haematopoietic_and_lymphoid_tissue, kidney, large_intestine, liver, lung, oesophagus, pancreas, prostate, skin, small_intestine, soft_tissue, thyroid, upper_aerodigestive_tract, urinary_tract | carcinoid-endocrine_tumour, carcinoma, glioma, lymphoid_neoplasm, malignant_melanoma, sarcoma | p.?, p.A502S, p.C633fs*16, p.C790_K792>*, p.D1548fs*11, p.D2822fs*34, p.D2889_L2890>EI, p.D2959fs*4, p.D639fs*10, p.D840N, p.E1195D, p.E1313fs*36, p.E2096fs*29, p.E2304fs*69, p.E2366fs*6, p.E2904fs*29, p.E642delE, p.E699_Q700>DE, p.E737fs*6, p.F1445fs*5, p.F2558fs*5, p.F2571fs*4, p.F2799fs*4, p.F2834fs*13, p.F357fs*33, p.G1676L, p.G197fs*9, p.G587fs*3, p.G733fs*4, p.H1624_K1625delHK, p.H2554fs*10, p.I149delI, p.I2701fs*1, p.I326_S328delIGS, p.I671M, p.I735_Y741delIAEEEAY, p.I818fs*4, p.K1057N, p.K1170fs*11, p.K2266fs*7, p.K2303fs*7, p.K2530fs*7, p.K2811fs*46, p.K296fs*4, p.K422delK, p.K573fs*13, p.K610fs*11, p.K742fs*1, p.L1194fs*1, p.L1348delL, p.L1814fs*14, p.L1814fs*9, p.L2051fs*5, p.L282fs*22, p.L2945fs*10, p.M1714fs*6, p.M2384fs*1, p.N1000fs*2, p.N109fs*3, p.N1549fs*2, p.N1929fs*1, p.N2679fs*9, p.P1257fs*4, p.P1382fs*4, p.P178fs*16, p.Q2433fs*7, p.Q2684*, p.Q2762fs*6, p.Q628fs*7, p.R184fs*5, p.R2138fs*8, p.R2568fs*14, p.R925fs*4, p.S1455fs*3, p.S1601fs*7, p.S1748_F1749>I, p.S214fs*16, p.S214fs*40, p.S2394fs*12, p.S274Y, p.S2812fs*3, p.S2860delS, p.S378fs*12, p.S646L, p.T1558A, p.T2434I, p.V2119fs*1, p.Y1442fs*9, p.Y2437fs*1 | Complex - compound substitution, Complex - deletion inframe, Complex - frameshift, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Substitution - Missense, Substitution - Nonsense, Unknown | 11:108365106-108365106, | Info_not_available | 0.53161, .53261, .57127, .65285, .65752, .66891, .68183, .6829, .68801, .69114, Info_not_available | 28481359 |
ATM | 795 | COSM6908356, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm, lymphoid_neoplasm | p.C141fs*12, p.L1340L | Deletion - Frameshift, Substitution - coding silent | 11:108287626-108287626, | Info_not_available | 0.52573, Info_not_available | 29386642 |
ATM | 795 | COSM6854387, | large_intestine | carcinoma | p.?, p.E2815fs*4, p.E650fs*9, p.G2536fs*4, p.I1581fs*20, p.I735fs*1, p.K2089K, p.L1827L, p.M812fs*1, p.N1000fs*10, p.N1140I, p.N2646fs*14, p.N3033N, p.R2642fs*13, p.S2882S, p.S2996fs*2, p.W1805fs*2 | Deletion - Frameshift, Insertion - Frameshift, Substitution - Missense, Substitution - coding silent, Unknown | 11:108365436-108365436, | Info_not_available | 0.50999, .52715, .63588, .64954, .67495, Info_not_available | 28978093 |
ATM | 795 | COSM6495413, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.?, p.A1931A, p.C219C, p.F1491F, p.S49C | Substitution - Missense, Substitution - coding silent, Unknown | 11:108332905-108332906, | Info_not_available | 0.50195, .62273, .65193, .66931, Info_not_available | 27534895 |
ATM | 795 | COSM6495407, | urinary_tract | carcinoma | p.S49C | Substitution - Missense | 11:108227849-108227849, | Info_not_available | 0.50195 | 25225064 |