From a1284e27a8bfb287e2b0b02170a8e37ff3019fd0 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Fri, 17 Feb 2023 15:05:50 -0500 Subject: [PATCH 01/29] wip: initial analysis for civic --- .gitignore | 3 + Pipfile | 13 +- .../civic/all_genomic_variant_queries.csv | 404 ++++ .../civic/all_protein_variant_queries.csv | 1719 +++++++++++++++++ notebooks/analysis/civic/civic_analysis.ipynb | 423 ++++ notebooks/analysis/civic/no_query.csv | 407 ++++ .../analysis/civic/not_supported_variants.csv | 940 +++++++++ .../civic/unable_to_normalize_queries.csv | 267 +++ requirements-dev.txt | 96 +- requirements.txt | 38 +- setup.cfg | 16 +- 11 files changed, 4237 insertions(+), 89 deletions(-) create mode 100644 notebooks/analysis/civic/all_genomic_variant_queries.csv create mode 100644 notebooks/analysis/civic/all_protein_variant_queries.csv create mode 100644 notebooks/analysis/civic/civic_analysis.ipynb create mode 100644 notebooks/analysis/civic/no_query.csv create mode 100644 notebooks/analysis/civic/not_supported_variants.csv create mode 100644 notebooks/analysis/civic/unable_to_normalize_queries.csv diff --git a/.gitignore b/.gitignore index 0408f9f3..0457f49e 100644 --- a/.gitignore +++ b/.gitignore @@ -38,3 +38,6 @@ pyproject.toml build/ dynamodb_local_latest/ + +# Env files +.env diff --git a/Pipfile b/Pipfile index edd1a657..5768c15a 100644 --- a/Pipfile +++ b/Pipfile @@ -5,24 +5,20 @@ verify_ssl = true [dev-packages] pytest = "*" -jupyterlab = "*" +pytest-asyncio = "*" pytest-cov = "*" flake8 = "*" flake8-docstrings = "*" flake8-quotes = "*" flake8-annotations = "*" flake8-import-order = "*" -coveralls = "*" -coverage = "*" pre-commit = "*" variation-normalizer = {editable = true, path = "."} -pyyaml = "*" jupyter = "*" ipykernel = "*" -twine = "*" -matplotlib = "*" psycopg2-binary = "*" -pytest-asyncio = "*" +civicpy = ">=3.0.0" +python-dotenv = "*" [packages] "biocommons.seqrepo" = "*" @@ -34,5 +30,4 @@ gene-normalizer = "~=0.1.31" pyliftover = "*" boto3 = "*" "ga4gh.vrsatile.pydantic" = "~=0.0.11" -cool-seq-tool = ">=0.1.5" -bioutils = "*" +cool-seq-tool = ">=0.1.6" diff --git a/notebooks/analysis/civic/all_genomic_variant_queries.csv b/notebooks/analysis/civic/all_genomic_variant_queries.csv new file mode 100644 index 00000000..4b12e796 --- /dev/null +++ b/notebooks/analysis/civic/all_genomic_variant_queries.csv @@ -0,0 +1,404 @@ +variant_id hgvs_g +2489 NC_000003.11:g.10191648_10191649insC +1988 NC_000003.11:g.10191649A>T +1986 NC_000003.11:g.10191648G>T +1987 NC_000003.11:g.10191649A>G +2152 NC_000003.11:g.10191719C>A +2028 NC_000003.11:g.10188221_10188222delinsAT +820 NC_000003.11:g.10188302G>T +1744 NC_000003.11:g.10188302G>A +2042 NC_000003.11:g.10188302delG +3173 NC_000003.11:g.10183681C>G +771 NC_000003.11:g.10183695_10183696insG +793 NC_000003.11:g.10183695_10183696insA +1785 NC_000003.11:g.10183697_10183698insA +2528 NC_000003.11:g.10191493C>A +1773 NC_000003.11:g.10191492G>T +1772 NC_000003.11:g.10191491T>C +1774 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NC_000003.11:g.10188245G>C +1909 NC_000003.11:g.10191471T>A +1934 NC_000003.11:g.10191471T>G +2076 NC_000003.11:g.10188320G>A +2437 NC_000003.11:g.10191504T>C +1775 NC_000003.11:g.10191504T>A +1825 NC_000003.11:g.10191503G>T +1910 NC_000003.11:g.10191516T>C +1826 NC_000003.11:g.10191516T>A +1806 NC_000003.11:g.10191515G>T +1935 NC_000003.11:g.10191516T>G +1847 NC_000003.11:g.10191547_10191550del +2493 NC_000003.11:g.10191588T>G +1789 NC_000003.11:g.10183727delG +1936 NC_000003.11:g.10183728T>G +1999 NC_000003.11:g.10183752T>G +2270 NG_008212.3:g.5426_5445del +1937 NC_000003.11:g.10183781G>C +1815 NC_000003.11:g.10183781G>T +2101 NC_000003.11:g.10183781G>A +2068 NC_000003.11:g.10183791T>C +2513 NC_000003.11:g.10183791T>A +2432 NC_000003.11:g.10183790_10183791insA +2249 NC_000003.11:g.10188207G>A +1821 NC_000003.11:g.10188208G>A +1767 NC_000003.11:g.10188208G>T +2521 NC_000003.11:g.10188206T>G +2522 NC_000003.11:g.10188206T>A +2523 NC_000003.11:g.10188207G>C +1294 NC_000003.11:g.10183555G>A +2151 NC_000003.11:g.10183794G>A +1908 NC_000003.11:g.10183795G>A +2124 NC_000003.11:g.10183795G>C +2039 NC_000003.11:g.10183794_10183796delinsTT +2242 NC_000003.11:g.10183794G>T +1761 NC_000003.11:g.10183793T>A +2056 NC_000003.11:g.10183793T>C +1966 NC_000003.11:g.10183794G>C +1766 NC_000003.11:g.10183867C>A +2818 NC_000003.11:g.10183866A>G +1865 NC_000003.11:g.10183865T>C +2006 NC_000003.11:g.10183865T>A +1968 NC_000003.11:g.10191475T>G +1946 NC_000003.11:g.10191474A>G +1967 NC_000003.11:g.10191473T>G +3182 NC_000003.11:g.10191473T>C +2013 NC_000003.11:g.10191473T>A +3193 NC_000003.11:g.10191474A>C +2453 NC_000003.11:g.10191472_10191477del +1932 NC_000003.11:g.10191532C>A +1969 NC_000003.11:g.10191532C>G +2138 NC_000003.11:g.10191532del +2067 NC_000003.11:g.10191531A>G +1846 NC_000003.11:g.10191530T>G +2066 NC_000003.11:g.10191530T>A +2115 NC_000003.11:g.10191562C>A +1809 NC_000003.11:g.10191562C>G +3125 NC_000003.11:g.10183825C>G +1933 NC_000003.11:g.10183824A>G +852 NC_000003.11:g.10183822_10183841del +2160 NC_000003.11:g.10183822delC +1741 NC_000003.11:g.10183823T>C +2484 NC_000003.11:g.10183823T>A +2480 NC_000003.11:g.10183824A>C +3022 NC_000003.11:g.10191943G>A +615 NC_000009.11:g.5070053_5070054insG +877 NC_000020.11:g.58903752C>T +731 NC_000003.11:g.37056036G>A diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv new file mode 100644 index 00000000..7136727c --- /dev/null +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -0,0 +1,1719 @@ +variant_id gene_name variant_name +748 MLH1 *757L +4188 VHL 10kb Deletion +785 CHEK2 1100DELC +2438 VHL 235 (CAG-TAG) +4186 VHL 2kb Deletion +253 EGFR 3' UTR MUTATION +2367 VHL 3p26.3-25.3 11Mb del +2390 MAP2K1 56_61QKQKVG>R +4187 VHL 5kb Deletion +467 KDR A1065T +807 RUNX1 A107P +3683 JAK1 A1086S +3030 BCL2 A113G +3342 KRAS A11_G12insGA +3544 PTEN A121E +3528 PTEN A126D +3565 PTEN A126S +2727 ERBB2 A129 +2729 TP53 A129 +4131 TP53 A138K +3416 TP53 A138V +2979 KRAS A146 +905 KRAS A146P +906 KRAS A146T +322 KRAS A146V +4134 TP53 A161D +4116 TP53 A161G +1114 TP53 A161T +4136 TP53 A161V +3976 BRCA1 A1708E +3994 BRCA1 A1789T +2929 PRPS1 A190T +2928 PRPS1 A190V +610 MTOR A2034V +3147 NTRK2 A203T +1169 ATM A2062V +1522 CDKN2A A20P +258 MTHFR A222V +1171 ATM A2274T +1217 ERBB3 A232V +3708 AR A234T +1050 TP53 A276V +996 EGFR A289V +4126 TP53 A347G +4023 FGFR3 A391E +752 MLH1 A424T +1588 SMO A459V +4248 PTPN11 A461T +1558 KIT A502_Y503insAY +2826 BRAF A598V +1646 POLE4 A59E +760 MLH1 A681V +2255 EGFR A702S +1198 BRAF A728V +3718 AR A748V +2332 EGFR A750T +1515 EGFR A763_Y764insFQEA +3725 AR A765T +2658 ERBB2 A775_G776insYVMA +3591 RIT1 A77P +3592 RIT1 A77S +990 KIT A829P +4127 TP53 A83E +1474 EGFR A859T +1187 EGFR A864T +3751 ARHGAP35 A865_L870delinsV +4129 TP53 A86E +4128 TP53 A86T +2939 PRPS1 A87T +1307 TP53 ALTERATION +153 FOXP1 AMPLIFICATION +154 REL AMPLIFICATION +204 NCOA3 AMPLIFICATION +224 TTF1 AMPLIFICATION +2655 MYB AMPLIFICATION +842 BRAF APC +2758 BRCA1 ATM +309 EGFR AUTOCRINE ACTIVATION +3510 BCL2L11 Alternative splicing +2844 MITF Amplificatioin +18 CCND1 Amplification +180 AURKA Amplification +187 CCNE1 Amplification +190 EGFR Amplification +212 PIK3CA Amplification +219 TERT Amplification +251 BIRC7 Amplification +267 FGFR1 Amplification +270 MET Amplification +298 MYCN Amplification +306 ERBB2 Amplification +321 MAPK1 Amplification +330 NOTCH1 Amplification +358 RSF1 Amplification +371 TOP1 Amplification +379 TYMS Amplification +407 ABCC3 Amplification +409 ASNS Amplification +553 CDK4 Amplification +573 RICTOR Amplification +586 KIT Amplification +591 RAF1 Amplification +592 KRAS Amplification +629 FGFR2 Amplification +630 FGF3 Amplification +635 AKT2 Amplification +716 PDGFRA Amplification +1261 MDM2 Amplification +1268 MDM4 Amplification +1269 BRAF Amplification +1276 SMO Amplification +1280 NTRK1 Amplification +1281 NTRK3 Amplification +1684 PSMD4 Amplification +1685 CDK6 Amplification +2205 FLT4 Amplification +2240 TLK2 Amplification +2397 CRKL Amplification +2550 NRAS Amplification +2564 MYC Amplification +2598 IRS2 Amplification +2619 FLT3 Amplification +2637 KDR Amplification +2746 CCND2 Amplification +2747 CCND3 Amplification +2906 FGFR3 Amplification +2907 FGFR4 Amplification +3687 KMT2A Amplification +4301 ALK Amplification +4331 ALK C1156Y +627 MAP2K1 C121S +2391 MAP2K1 C121S and G128D +4113 TP53 C124R +3547 PTEN C124S +2840 MAP2K2 C125S +198 FOXL2 C134W +2719 TP53 C135F +924 TP53 C135W +1111 TP53 C135Y +3382 PTEN C136R +1094 TP53 C141W +2713 MTOR C1483F +3413 MTOR C1483R +543 MTOR C1483Y +3389 TP53 C176F +4118 TP53 C176S +1116 TP53 C176Y +248 TERT C228T +3393 TP53 C238F +2648 TP53 C238Y +1062 TP53 C242F +1063 TP53 C242S +1064 TP53 C242Y +1172 ATM C2488Y +4004 TERT C250T +4124 TP53 C275F +917 TP53 C275Y +4145 TP53 C277Y +1647 POLD1 C284Y +3357 FGFR2 C342R +3358 FGFR2 C342Y +931 PIK3CA C420R +1586 SMO C469Y +1639 ABL1 C475V +4017 BTK C481R +168 BTK C481S +4016 BTK C481Y +3605 EZH2 C576W +3337 PIK3CA C604R +1260 RET C609Y +1700 RET C634R +112 RET C634W +2936 PRPS1 C77S +3003 EGFR C797G +415 EGFR C797S +1574 EGFR C797Y +1264 KIT C809G +3756 BAP1 C91S +2789 PIK3CA C971R +3385 CD44 CD44s +3386 CD44 CD44v5 and CD44v6 +3373 CD44 CD44v6 +3388 CD44 CD44v6 and CD44v10 +3387 CD44 CD44v6+/CD44s- +3369 CD44 CD44v8-10 +3368 CD44 CD44v9 +3367 CD44 CD4v8-v10 and CD44v3-v10 +3474 CEACAM1 CEACAM1-L +3475 CEACAM1 CEACAM1-S +1300 TP53 CONSERVED DOMAIN MUT +3408 TEK Cis double mutants +2800 BRAF Class 2 Mutations +2801 BRAF Class 3 Mutations +1660 MET D1010H +1651 MET D1010N +1649 MET D1010Y +2260 MET D1028N +3062 BCL2 D103E +3061 BCL2 D103V +3058 BCL2 D103Y +3380 CDKN2A D108H +3288 CDKN2A D108N +2791 CDKN2A D108Y +4015 PLCG2 D1140E +649 MET D1228N +798 MET D1228V +2935 PRPS1 D139G +3349 SPOP D140G +3553 PTEN D162G +135 NOTCH1 D1642H +1168 ATM D1682H +2196 DICER1 D1709E +2195 DICER1 D1709G +2051 DICER1 D1709N +3802 TSC2 D1734E +3980 BRCA1 D1739G +3981 BRCA1 D1739V +2197 DICER1 D1810H +2199 DICER1 D1810N +2198 DICER1 D1810Y +2920 PRPS1 D183E +2933 PRPS1 D183H +2734 TP53 D184 +1160 ATM D1930V +634 STK11 D194E +806 RUNX1 D198Y +1641 ROS1 D2033N +3706 AR D221H +3401 TP53 D259V +3610 BRCA2 D2611G +3625 BRCA2 D2723A +3631 BRCA2 D2723G +3639 BRCA2 D2723H +1044 TP53 D281E +1045 TP53 D281G +3792 TP53 D281N +4146 TP53 D281Y +3495 ERBB3 D297Y +650 CASP8 D302H +3611 BRCA2 D3073G +661 BRCA2 D3095E +4222 AKT1 D323G +3256 CTNNB1 D32Y +1653 PIK3CA D350G +3338 PIK3CA D350N +2852 SMAD4 D351H +2995 TP53BP1 D353E +1606 ABL1 D363Y +240 NT5C2 D407A +855 KIT D419del +2468 PRKCB D427N +1560 SMO D473G +299 SMO D473H +1561 SMO D473Y +3959 SMAD4 D493H +3713 AR D528G +2858 SMAD4 D537Y +47 ESR1 D538G +1399 PIK3CA D549N +1547 KIT D579_H580insIDPTQLPYD +977 KIT D579del +4341 FLT3 D593del +2767 BRAF D594 +579 BRAF D594A +2799 BRAF D594E +611 BRAF D594G +2832 BRAF D594H +2833 NECTIN4 D594H +2398 BRAF D594K +1107 BRAF D594N +580 BRAF D594V +3698 FGFR3 D617G +2573 PTPN11 D61Y +468 KDR D717V +1013 EGFR D761N +712 EGFR D761Y +35 ERBB2 D769H +36 ERBB2 D769Y +1512 EGFR D770_N771insG +1514 EGFR D770_N771insGL +1566 EGFR D770_N771insGT +1569 EGFR D770_N771insNPG +1445 EGFR D770_N771insSVD +2214 EGFR D770delinsGY +1559 KIT D816E +1402 KIT D816G +983 KIT D816H +65 KIT D816V +984 KIT D816Y +1265 KIT D820A +2736 KIT D820E +1266 KIT D820G +986 KIT D820Y +437 FLT3 D835 +3231 FLT3 D835 & I836 +1397 FLT3 D835E +4340 FLT3 D835G +612 FLT3 D835H +613 FLT3 D835H/Y +3075 FLT3 D835I +4339 FLT3 D835N +1302 FLT3 D835V +3011 FLT3 D835Y +3167 FLT3 D839A +3160 FLT3 D839G +3169 FLT3 D839H +3168 FLT3 D839N +98 PDGFRA D842I +99 PDGFRA D842V +100 PDGFRA D842Y +943 PDGFRA D842_H845DELDIMH +102 PDGFRA D842_I843delinsVM +1518 PDGFRA D842_M844del +3374 CDKN2A D84G +3334 CDKN2A D84H +3285 CDKN2A D84N +3375 CDKN2A D84V +3333 CDKN2A D84Y +2574 SETBP1 D868N +3538 PTEN D92A +3539 PTEN D92E +3540 PTEN D92G +3541 PTEN D92H +3542 PTEN D92V +3293 PIK3CA D939G +522 BRAF DEL 485-490 +954 KIT DEL 554-558 +3023 PML DELETION (p.K227_T233del) +1663 BRAF DELNVTAP +3509 AIMP2 DX2 +2414 MAP2K1 E102_I103delEI +3290 PIK3CB E1051K +3464 EGFR E114K +566 MAP2K7 E116K +4329 ALK E1210K +2994 MAEA E151INT +2050 DICER1 E1705K +544 MTOR E1799K +4 AKT1 E17K +1227 AKT3 E17K +3585 TP53 E180K +2591 DICER1 E1813 mutations +2200 DICER1 E1813G +2201 DICER1 E1813K +2052 DICER1 E1813Q +3707 AR E198G +572 MTOR E2014K and E2419K +1626 MAP2K1 E203K +2730 TP53 E204 +1162 ATM E2187* +3780 TP53 E224K +1601 ABL1 E258D +3772 TP53 E258K +1552 MAPK1 E278E +1603 ABL1 E281K +1043 TP53 E285K +3462 TP53 E285V +915 TP53 E286K +3621 BRCA2 E3002K +3496 ERBB4 E317K +320 MAPK1 E322K +2853 SMAD4 E330A +3521 SMAD4 E330K +1648 POLD1 E374K +1674 ESR1 E380Q +691 ERRFI1 E384* +3336 PIK3CA E39K +4306 KLF5 E419K +4307 KLF5 E419Q +1619 ABL1 E450A +1496 ABL1 E450G +1617 ABL1 E450K +1620 ABL1 E453V +1621 ABL1 E459G +3692 FGFR3 E466K +3343 SPOP E47K +3682 JAK1 E483D +773 MSH2 E483G +3345 SPOP E50K +2282 DROSHA E518K +103 PIK3CA E542K +933 PIK3CA E542Q +2763 PIK3CA E545 +882 PIK3CA E545A +934 PIK3CA E545D +883 PIK3CA E545G +104 PIK3CA E545K +881 PIK3CA E545Q +884 PIK3CA E545V +2709 PIK3CA E545X +955 KIT E554D +3328 FLT3 E573Δ +3449 BRAF E585K +1631 FLT3 E588_Y589INSKYFYVDFRE +1544 FLT3 E611_F612INS25 +4106 TP53 E68G +2258 EGFR E709A and G719C +1412 EGFR E709K +2256 EGFR E709K and G719A +1413 EGFR E709Q +1577 EGFR E709_T710>D +1572 EGFR E734Q +724 EGFR E746G +1431 EGFR E746K +1005 EGFR E746V +1635 EGFR E746_A750>IP +1002 EGFR E746_A750del +1433 EGFR E746_S752>A +1009 EGFR E746_S752delinsD +4280 EGFR E746_S752insV +1003 EGFR E746_T751>I +1004 EGFR E746_T751delinsA +1214 EGFR E746_T751delinsVA +3754 BACH2 E788K +3504 ERCC2 E79D +4320 NFE2L2 E79K +3960 NFE2L2 E79Q +1500 PIK3CA E81K +3430 NFE2L2 E82D +4107 SOS1 E846K +1482 EGFR E868G +3505 ERCC2 E86Q +1390 EGFR E884K +3332 CDKN2A E88K +3537 PTEN E91A +3484 FN1 EDB +2670 EPHB2 EPHB2 +4005 EWSR1 EWSR1-ERG +1854 EGFR Ex19 del L858R +1158 ATM F1025L +3082 BCL2 F104I +3028 BCL2 F104L +3027 BCL2 F104S +1492 ALK F1174C +8 ALK F1174L +1505 ALK F1174V +549 ALK F1245C +1295 ALK F1245V +1174 NOTCH1 F1592C +1127 NOTCH1 F1592S +2714 MTOR F1888L +470 MTOR F2108L +457 FCGR3A F212V +2285 CRLF2 F232C +2802 BRAF F247L +1053 TP53 F270S +1164 ATM F2732V +2063 STK11 F354L +3516 FGFR3 F384L +2616 EGFR F404I +2617 EGFR F404V +1538 ABL1 F486Y +3240 KIT F504A +1270 MAP2K1 F53L +2839 MAP2K1 F53Y +4223 AKT1 F55Y +1398 MAP2K2 F57C +3450 BRAF F594L +1121 BRAF F595L +3468 NTRK3 F617L +3071 FLT3 F691L +2587 JAK2 F694L +3593 RIT1 F82L +1881 ATM F858L +175 AR F877L +3536 PTEN F90L +3667 PIK3CA F930S +3437 PIK3CA G1007R +3026 BCL2 G101A +2960 BCL2 G101V +1501 PIK3CA G1049A +940 PIK3CA G1049R +939 PIK3CA G1049S +3341 KRAS G10_A11insG +1673 ERBB4 G1109C +2798 ALK G1128A +76 KRAS G12 +92 NRAS G12 +77 KRAS G12/G13 +596 NRAS G12/G13 +171 ALK G1202R +4334 ALK G1269S +3549 PTEN G127E +2835 MAP2K1 G128V +3563 PTEN G129E +3562 PTEN G129R +3561 PTEN G129V +148 KRAS G12A +78 KRAS G12C +897 NRAS G12C +79 KRAS G12D +878 NRAS G12D +1387 HRAS G12D +530 KRAS G12R +898 NRAS G12S +913 KRAS G12S +425 KRAS G12V +1175 NRAS G12V +1394 HRAS G12V +80 KRAS G13 +2873 MAP2K2 G132D +2874 MAP2K2 G132S +895 NRAS G13C +911 KRAS G13C +81 KRAS G13D +93 NRAS G13D +274 HRAS G13D +896 NRAS G13R +1393 HRAS G13R +1395 KRAS G13R +1396 KRAS G13S +1317 NRAS G13V +1489 HRAS G13V +1517 KRAS G13V +2676 EP300 G1506V +3419 TP53 G154S +3559 PTEN G165E +3560 PTEN G165V +3973 BRCA1 G1706A +3972 BRCA1 G1706E +2922 PRPS1 G174E +3993 BRCA1 G1770V +3793 TP53 G177E +1271 ROS1 G2032R +3152 GNA11 G209P +3153 GNAQ G209P +1060 TP53 G244S +3397 TP53 G244V +2721 TP53 G245 +1036 TP53 G245D +879 TP53 G245S +3331 LZTR1 G248R +2279 CRLF2 G24R +1599 ABL1 G250V +3523 SMAD4 G252* +141 DDR2 G253C +3615 BRCA2 G2585R +3628 BRCA2 G2609D +4144 TP53 G262C +3773 TP53 G262D +2724 TP53 G266 +3774 TP53 G266E +1055 TP53 G266R +4122 TP53 G266V +2838 MAP2K1 G276W +3613 BRCA2 G2793E +3616 BRCA2 G2793R +3791 TP53 G279E +703 ERBB3 G284R +3623 BRCA2 G3076E +3620 BRCA2 G3076V +38 ERBB2 G309A +3457 NFE2L2 G31A +2283 ACVR1 G328E +1686 ACVR1 G328V +2280 ACVR1 G328W +3587 H3-3A G34 +1657 ABL1 G340L +3492 CTNNB1 G34E +3253 CTNNB1 G34R +3379 H3-3A G34R +2576 CTNNB1 G34V +3378 H3-3A G34V +2421 H3-3A G34W +3662 ACVR1 G356D +2788 PIK3CA G363A +3286 PTEN G36R +2406 FGFR3 G370C +3381 PIK3R2 G373R +2405 FGFR3 G380R +3522 SMAD4 G386D +3520 SMAD4 G419V +3432 BRAF G463E +3442 BRAF G463V +1106 BRAF G464V +3443 BRAF G465A +2603 EGFR G465E +443 EGFR G465R +2604 EGFR G465V +1196 BRAF G466A +2792 BRAF G466E +2222 BRAF G466V +3441 BRAF G468A +2822 BRAF G469 +992 BRAF G469A +993 BRAF G469E +840 BRAF G469R +3425 BRAF G469S +841 BRAF G469V +2221 BRAF G496A +1584 SMO G497W +142 DDR2 G505S +1624 ABL1 G514S +4007 DDX41 G530D +1678 FBXW7 G579W +2823 BRAF G593D +2690 NTRK1 G595R +3469 NTRK1 G595R and G667S +2768 BRAF G596 +694 BRAF G596C +1627 BRAF G596R +1650 BRAF G596V +997 EGFR G598V +2223 BRAF G606E +730 MLH1 G606FS*2 +2855 NTRK3 G623E +2691 NTRK3 G623R +3215 FGFR4 G636C +3699 FGFR3 G637W +3488 EGFR G63R +759 MLH1 G65D +757 MLH1 G67R +1692 FGFR3 G691R +4030 FGFR3 G697C +2817 FLT3 G697R +3212 FLT3 G697S +718 EGFR G719 +999 EGFR G719A +1420 EGFR G719D +134 EGFR G719S +317 EGFR G724S +3346 SPOP G75R +144 DDR2 G774V +1557 ERBB2 G776INSV_G/C +816 ERBB2 G776L +3649 KDR G800D +3650 KDR G800R +4298 FGFR3 G802_X807del +3033 RET G810 +3226 RET G810C +1016 EGFR G810S +3227 RET G810S +3651 KDR G843D +772 HOXB13 G84E +865 PDGFRA G853D +351 SETBP1 G870S +4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 +3305 TNFRSF17 Gain +1151 PIK3CA H1047L +3766 PIK3CA H1047L or H1047R +107 PIK3CA H1047R +2710 PIK3CA H1047X +938 PIK3CA H1047Y +2957 MET H1112L +4112 TP53 H115Y +3546 PTEN H123D +2872 MAP2K2 H123Q +3803 SMAD4 H132Y +456 FCGR2A H167R +3963 BRCA1 H1686Q +3962 BRCA1 H1686R +4138 TP53 H168Q +4137 TP53 H168R +3783 TP53 H168Y +4103 TP53 H178P +1082 TP53 H179R +1083 TP53 H179Y +3996 BRCA1 H1862L +4119 TP53 H193L +283 MTOR H1968Y +1595 ABL1 H201L +4335 TP53 H214R +1446 EGFR H773_V774insH +1513 EGFR H773_V774insNPH +864 PDGFRA H845Y +874 ERBB2 H878Y +3529 PTEN H93D +3530 PTEN H93Q +3340 PTEN H93R +3531 PTEN H93Y +4323 CBL H94Y +259 GSTP1 I105V +263 ABCB1 I1145I +527 ALK I1171 +4387 ALK I1171N +3371 ALK I1171T +3545 PTEN I122S +787 CHEK2 I157T +3768 TP53 I162F +3555 PTEN I168F +458 FCGR2B I232T +1598 ABL1 I242T +3758 U2AF1 I24T +3630 BRCA2 I2627F +3255 CTNNB1 I35K +1235 PIK3CA I391M +1585 SMO I408V +1615 ABL1 I418S +1614 ABL1 I418V +2599 EGFR I462K +2600 EGFR I462R +3448 BRAF I462S +2608 EGFR I491K +2609 EGFR I491R +4022 FGFR3 I538F +143 DDR2 I638F +2677 ERBB2 I654V +758 MLH1 I68S +2937 PRPS1 I72V +2259 EGFR I744_K745insKIPVAI +3664 ERBB2 I767M +3232 FLT3 I836 +3572 FLT3 I836S +3573 FLT3 I836T +101 PDGFRA I843DEL +755 MSH6 I972F +2744 IKZF1 IKZF1 deletion and mutation +55 FLT3 ITD +3220 FLT3 ITD N676D +3209 FLT3 ITD & D835(V/Y/F/H) +3211 FLT3 ITD & D839G +3284 FLT3 ITD & L601F +3636 FLT3 ITD & N841K +3283 FLT3 ITD & Y597F +3210 FLT3 ITD & Y842C +3219 FLT3 ITD D651G +3221 FLT3 ITD I687F +2785 FLT3 ITD N676K +3218 FLT3 ITD and co-mutations +3208 FLT3 ITD&F691(I/L) +788 CHEK2 IVS2+1G>A +2674 RB1 IVS20, A-G, -2 +257 EZH2 Intron 6 Mutation +1234 PIK3CA K111N +1120 KRAS K117N +3584 TP53 K120E +3596 TP53 K120R +3548 PTEN K125E +3564 PTEN K128N +2722 TP53 K132 +3764 TP53 K139E +2988 PCNA K164R LOSS-OF-MODIFICATION +770 MSH2 K172* +2921 PRPS1 K176N +3476 H3-3A K27 +2815 H3C2 K27M +3939 H3-3A K27M +3944 H3C14 K27M +3594 H3-3A K27R +2416 H3-3A K28M +1155 ATM K293* +3402 TP53 K305M +4147 TP53 K305N +2871 BRCA2 K3326* +239 NT5C2 K359Q +3745 CTCF K365T +2420 H3-3B K36M +4177 PDGFRA K385 +3440 KLF4 K409Q +2775 BRAF K439Q +2776 BRAF K439T +2605 EGFR K467N +455 EGFR K467T +581 BRAF K483M +2622 KIT K484_G487DEL +2607 EGFR K489E +2606 EGFR K489Q +949 KIT K550_K558del +2696 KIT K550_K559DEL +948 KIT K550_W557del +1549 KIT K558NP +963 KIT K558Q +965 KIT K558R +964 KIT K558_V559del +1272 MAP2K1 K57N +824 MAP2K1 K57T +3455 BRAF K600E +2765 BRAF K601 +584 BRAF K601E +733 MLH1 K618DEL +978 KIT K642E +2592 KIT K642R +4024 FGFR3 K650D +1400 FGFR3 K650E +4025 FGFR3 K650L +4013 FGFR3 K650M +3695 FGFR3 K650N +4019 FGFR3 K650Q +4021 FGFR3 K650T +2947 FGFR2 K660E +3166 FLT3 K663Q +114 SF3B1 K666N +565 SF3B1 K700E +508 PMS2 K706FS*19 +3490 EGFR K708R +3714 AR K720E +1638 EGFR K745_E749delKELRE +264 ERCC2 K751Q +1312 ERBB2 K753E +4319 SMARCA2 K755R +1314 ERBB2 K755S +723 EGFR K757R +1895 EGFR K806E +802 RUNX1 K83E +2964 RUNX1 K90fsX101 +3666 PIK3CA K944N +3669 PIK3CA K966E +3472 KRAS KRAS4A +4111 TP53 L111R +2731 TP53 L114 +1554 ALK L1152P +307 ALK L1152R +4332 ALK L1152V +4324 ALK L1196M +1553 ALK L1196Q +1275 ALK L1198F +1556 ALK L1198P +3031 BCL2 L119V +3032 MYOD1 L122R +2168 RAD50 L1237F +3660 CYSLTR2 L129Q +1099 TP53 L130V +3078 VHL L135* +4114 TP53 L139N +4273 BRCA1 L1407P +1032 NOTCH1 L1574P +1145 NOTCH1 L1574Q +1142 NOTCH1 L1585R +1031 NOTCH1 L1600P +1140 NOTCH1 L1600Q +1034 NOTCH1 L1678P +3335 CDKN2A L16P +2675 MSH2 L173P +3982 BRCA1 L1764P +2919 PRPS1 L191F +1078 TP53 L194P +3392 TP53 L194R +2735 TP53 L206 +2716 MTOR L2230V +140 DDR2 L239R +1163 ATM L2427P +3414 MTOR L2427Q +3755 BACH2 L24P +3624 BRCA2 L2510P +3771 TP53 L252F +3801 TP53 L257P +3640 BRCA2 L2647P +3642 BRCA2 L2653P +3612 BRCA2 L2654P +424 MYD88 L265P +3638 BRCA2 L2688P +1602 ABL1 L273M +3617 BRCA2 L2792P +1506 ABL1 L298V +3643 PIM1 L2V +4125 TP53 L305M +3775 TP53 L308M +4322 NFE2L2 L30F +3776 TP53 L323P +3580 TP53 L330P +3581 TP53 L330R +3583 TP53 L344P +1677 FBXW7 L403FS*34 +1570 SMO L412F +4313 POLE L424I +4158 POLE L424V +2842 MAP2K2 L46F +2804 BRAF L485F +658 BRAF L505H +2793 BRAF L525R +1191 AKT1 L52R +541 PALB2 L531FS*30 +46 ESR1 L536Q +1675 ESR1 L536R +72 KIT L576P +1540 PDGFRA L579M +3705 AR L57Q +3451 BRAF L596V +2766 BRAF L597 +583 BRAF L597Q +288 BRAF L597R +582 BRAF L597S +585 BRAF L597V +2401 FGFR3 L608V +1309 ERBB2 L638S +139 DDR2 L63V +2999 EGFR L718Q +3000 EGFR L718V +2997 EGFR L718V and L718Q +3717 AR L744F +1891 EGFR L747P +1006 EGFR L747_A750>P +1011 EGFR L747_P753>Q +1012 EGFR L747_P753delinsS +890 EGFR L747_S752del +1580 EGFR L747_S752delinsQ +1007 EGFR L747_T751delLREAT +1010 EGFR L747_T751delinsP +1008 EGFR L747_T751delinsQ +1313 ERBB2 L753E +1304 ERBB2 L755P +39 ERBB2 L755S +40 ERBB2 L755W +37 ERBB2 L755_T759del +1308 ERBB2 L768S +4221 AKT2 L78_Q79ins +3004 EGFR L792H +1457 EGFR L838P +1018 EGFR L838V +3648 KDR L840F +1473 EGFR L858Q +33 EGFR L858R +1866 EGFR L861 +1020 EGFR L861Q +1477 EGFR L861R +496 ERBB2 L866M +2330 ERBB2 L869R +3670 PIK3CA L938* +3483 LGR5 LGR5FL +302 PTCH1 LOH +937 PIK3CA M1043I +2940 PRPS1 M115T +3301 SPOP M117I +3280 SPOP M117V +3372 MET M1250T +3966 BRCA1 M1628T +3965 BRCA1 M1652I +1248 BRCA2 M1I +747 MLH1 M1L +1247 BRCA2 M1R +609 MTOR M2327I +1066 TP53 M237I +1597 ABL1 M237V +3396 TP53 M243T +3398 TP53 M246A +3789 TP53 M246L +4105 TP53 M246R +3399 TP53 M246T +1610 ABL1 M388L +1622 ABL1 M472I +769 MLH1 M490T +1288 JAK3 M511I +3515 FGFR3 M528I +201 KIT M541L +951 KIT M552_W557DEL +3165 FLT3 M664I +638 RB1 M695FS*26 +2745 EGFR M766Q +1664 EGFR M766_A767insAI +2213 EGFR M766_A767insASV +818 ERBB2 M774DELINSWLV +3588 RIT1 M90I +113 RET M918T +3435 MYOD1 MYOD1 L122R +3127 WT1 Mutations +3438 PIK3CA N1044K +2924 PRPS1 N114D +2843 MAP2K2 N126D +778 SLCO1B1 N130D +2923 PRPS1 N144S +3281 ERCC2 N238S +3394 TP53 N239D +3787 TP53 N239S +3395 TP53 N239T +244 ATM N2875H +3641 BRCA2 N3124I +930 PIK3CA N345K +3679 ETV6 N385_R418del +3681 JAK1 N451S +2794 BRAF N486_P490del +3237 KIT N505I +3238 KIT N505R +3216 FGFR4 N535K +4028 FGFR3 N540D +3693 FGFR3 N540K +3694 FGFR3 N540S +515 FGFR1 N546K +2780 FGFR2 N549H +545 FGFR2 N550K +751 MLH1 N551T +1652 PIK3R2 N561D +4014 PLCG2 N571S +3444 BRAF N580S +1186 BRAF N581S +3053 FLT3 N676K +3719 AR N756D +1581 EGFR N771>GY +3304 EGFR N771_P772insL +1662 EGFR N771delinsVH +987 KIT N822H +1263 KIT N822K +1188 EGFR N826S +1896 EGFR N826Y +3201 FLT3 N841I +3213 FLT3 N841K +3308 FLT3 N841T +1899 EGFR N842S +873 ERBB2 N857S +3532 PTEN N94I +1320 ERBB2 NON-AMPLIFICATION +3740 NTRK1 NTRK1 amplification +2408 BRAF Non-V600 +3297 VHL Null (11 kb 3' deletion) +2016 VHL Null (Complete deletion) +2182 VHL Null (Large deletion) +1947 VHL Null (Partial deletion of 4.6 Kb) +2103 VHL Null (Partial deletion) +3361 VHL Null (del one VHL allele) +3180 VHL Null (deletion) +3188 VHL Null (large 3' deletion) +3262 VHL Null (point mutation codon 238) +1682 ARID1A P1175FS*5 +2837 MAP2K1 P124L +82 MAP2K1 P124S +734 MLH1 P138T +761 MSH6 P138T +1644 PXDNL P1460T +3418 TP53 P151A +1093 TP53 P151H +3765 TP53 P151S +3767 TP53 P152L +3794 TP53 P152T +2732 TP53 P153 +3556 PTEN P169H +3785 TP53 P177F +3786 TP53 P177H +3784 TP53 P177S +3299 PPP2R1A P179R +3997 BRCA1 P1812R +402 NQO1 P187S +4141 TP53 P190H +1080 TP53 P190L +813 ETV6 P214L +3778 TP53 P219H +284 MTOR P2213S +3318 TP53 P250L +2905 FGFR2 P253R +1218 ERBB3 P262H +2726 TP53 P278 +3005 TP53 P278A +1049 TP53 P278S +4315 POLE P286H +1830 POLE P286R +3570 CCND1 P287S +3571 CCND1 P287T +367 RAC1 P29S +3711 AR P340L +3266 KRAS P34R +3289 CTCF P378L +3602 ATXN7 P40Q +1291 JAK1 P429S +3603 ATXN7 P42_P43insP +1616 ABL1 P441L +3458 PIK3CA P447_L455del +294 PIK3CA P471L +504 TP53 P47S +1623 ABL1 P480L +3377 CDKN2A P48L +2796 BRAF P490_Q494del +3712 AR P504L +1582 EGFR P546S +950 KIT P551L +1497 KIT P551_E554delPMYE +976 KIT P577L +862 PDGFRA P577S +2738 KIT P577_D579DEL +3489 EGFR P596L +2180 TSPYL1 P62S +2990 BRCA2 P655R +531 TP53 P72R +2224 BRAF P731T +460 EGFR P753S +2217 EGFR P772_H773insH +1667 EGFR P772_H773insYNP +1668 EGFR P772_V774insPHV +41 ERBB2 P780INS +2697 PAX5 P80R +3644 PIM1 P81S +3384 CDKN2A P81T +1465 EGFR P848L +480 DNMT3A P904L +3348 SPOP P94A +4304 SRSF2 P95H +3533 PTEN P95L +4303 SRSF2 P95L +3534 PTEN P96Q +3761 TP53 P98L +3760 TP53 P98S +3235 PRKAR1A PRKAR1A LOH, allelic imbalance 17q +2916 PRPS1 PRPS1 MUTATION +2184 VHL Partial deletion of 0.7 Kb +4200 VHL Partial deletion of 0.8 kb +2185 VHL Partial deletion of 1 Kb +2186 VHL Partial deletion of 1.2 Kb +2187 VHL Partial deletion of 1.5 Kb +3999 VHL Partial deletion of 10 Kb +2188 VHL Partial deletion of 11 Kb +2189 VHL Partial deletion of 12 Kb +3095 VHL Partial deletion of 2 Kb +2191 VHL Partial deletion of 3 Kb +2190 VHL Partial deletion of 3.5 Kb +2492 VHL Partial deletion of 4 Kb +2193 VHL Partial deletion of 7 Kb +2192 VHL Partial deletion of 7.5 Kb +2194 VHL Partial deletion of 8.2 Kb +3466 NTRK1 Point Mutations +3467 NTRK3 Point Mutations +3302 TYK2 Pro1104Ala +220 TERT Promoter Mutation +1159 ATM Q1084* +469 TSC2 Q1178* +260 ABCG2 Q141K +3777 TP53 Q144P +4132 TP53 Q144Q +1246 BRCA1 Q1467* +753 MLH1 Q149* +127 U2AF1 Q157P/R +4135 TP53 Q167R +1654 NRAS Q179X +1593 PTCH1 Q17X +507 GNAQ Q209 +558 GNA11 Q209 +604 GNAQ Q209P +479 KRAS Q22* +1520 MTOR Q2223K +1643 SCN8A Q225X +2700 CBL Q294E +3601 ATXN7 Q30R +261 XRCC1 Q399R +3600 ATXN7 Q39P +3590 RIT1 Q40L +1510 ARID1A Q456* +1564 SMO Q477E +614 JAK1 Q503* +3663 BRAF Q524L +886 PIK3CA Q546E +885 PIK3CA Q546K +887 PIK3CA Q546P +888 PIK3CA Q546R +1541 KIT Q556_I571DEL +83 MAP2K1 Q56P +655 MAP2K1 Q56_V60del +975 KIT Q575L +3326 FLT3 Q575Δ +94 NRAS Q61 +203 KRAS Q61 +2570 HRAS Q61 +1104 KRAS Q61E +893 NRAS Q61H +907 KRAS Q61H +427 NRAS Q61K +910 KRAS Q61K +1392 HRAS Q61K +95 NRAS Q61L +854 HRAS Q61L +908 KRAS Q61L +1103 KRAS Q61P +96 NRAS Q61R +909 KRAS Q61R +1391 HRAS Q61R +981 KIT Q694K +3576 ERBB2 Q709L +3433 RRAS2 Q72L +1592 PTCH1 Q787X +3726 AR Q798E +169 AKT1 Q79K +3589 RIT1 Q79L +1157 ATM Q984E +4000 RAF1 QKI-RAF1 +741 MLH1 R100* +2774 MET R1004G +3653 KDR R1022Q +1594 PIK3CA R1023Q +3350 KDR R1032Q +702 ERBB3 R103G +714 TSC1 R1062W +994 EGFR R108K +3282 TP53 R110L +4318 SMARCA2 R1159Q +1661 ALK R1192P +3498 ERBB3 R1202W +2645 KDM6A R1213* +3300 SPOP R121Q +776 MSH6 R1242C +767 MSH6 R1242H +9 ALK R1275Q +3292 NF1 R1276Q +3060 BCL2 R129L +636 PTEN R130* +1037 PTEN R130G +899 PTEN R130Q +58 IDH1 R132 +59 IDH1 R132C +927 IDH1 R132G +420 IDH1 R132H +880 IDH1 R132L +928 IDH1 R132S +804 RUNX1 R135FSX177 +62 IDH2 R140 +4102 TP53 R156H +3795 TP53 R156P +1170 ATM R1575H +3967 BRCA1 R1589P +4133 TP53 R158C +4115 TP53 R158G +1695 TP53 R158H +1699 TP53 R158L +3543 PTEN R15K +1628 NF1 R163X +1207 KRAS R164Q +814 DDX41 R164W +3470 EGFR R165Q +3971 BRCA1 R1699W +199 IDH2 R172 +2364 PREX2 R172I +63 IDH2 R172K +838 PTEN R173C +3420 TP53 R174K +1085 TP53 R174W +116 TP53 R175H +3796 TP53 R181C +3797 TP53 R181G +3798 TP53 R181H +4140 TP53 R181L +3390 TP53 R181P +471 RAD51D R186* +249 XRCC1 R194W +4142 TP53 R196Q +876 GNAS R201 +826 GNAS R201C +1319 GNAS R201H +4305 CIC R201W +2857 ROS1 R2033N +1161 ATM R2034P +3661 ACVR1 R206H +3575 PMS2 R20Q +2711 TP53 R213* +1109 TP53 R213P +4121 TP53 R213Q +1683 ALK R214H +3439 MTOR R2152C +3431 CIC R215W +3344 EGFR R222C +754 MLH1 R226* +136 NOTCH1 R2327W +110 PTEN R233* +1252 BRCA2 R2336P +2896 NT5C2 R238W +1156 ATM R2459C +2723 TP53 R248 +2403 FGFR3 R248C +3069 NTRK3 R248C +920 TP53 R248L +117 TP53 R248Q +118 TP53 R248W +119 TP53 R249 +3400 TP53 R249G +1696 TP53 R249S +556 CDK4 R24C +3961 EGFR R252C +2275 ACVR1 R258G +3618 BRCA2 R2659G +749 MLH1 R265G +3421 TP53 R267Q +2725 TP53 R273 +121 TP53 R273C +122 TP53 R273H +918 TP53 R273L +2753 PRKN R275W +3619 BRCA2 R2784Q +3626 BRCA2 R2784W +1697 TP53 R280K +1698 TP53 R280T +1108 TP53 R282L +916 TP53 R282W +3799 TP53 R283H +3422 TP53 R283P +3608 BRCA2 R2842C +903 ATM R3008C +4148 TP53 R306E +768 PMS2 R315* +3423 TP53 R337C +3424 TP53 R337H +1112 TP53 R337L +3582 TP53 R337P +4149 TP53 R337S +3579 TP53 R342P +1656 ABL1 R351W +2276 AMER1 R358X +2851 SMAD4 R361C +238 NT5C2 R367Q +812 ETV6 R369Q +3757 SMAD3 R373H +3339 CTCF R377H +727 MSH2 R383* +1680 RAF1 R391W +2597 DICER1 R392fs and E1813D +811 ETV6 R399C +3463 PALB2 R414X +3678 ETV6 R418G +454 EGFR R451C +3144 NTRK2 R458G +3447 BRAF R461I +3671 FBXW7 R465C +2647 FBXW7 R465H +3672 FBXW7 R479Q +3519 SMAD4 R496H +1503 FBXW7 R505C +1504 FBXW7 R505H +3673 FBXW7 R505L +2803 BRAF R558Q +1679 FBXW7 R658Q +3696 FGFR3 R669G +3697 FGFR3 R669Q +42 ERBB2 R678Q +2829 JAK2 R683G +3604 EZH2 R690C +2333 EGFR R705K +3716 AR R726L +3485 DNMT3A R736H +1181 EGFR R776C +1017 EGFR R831H +2741 EGFR R832L +863 PDGFRA R841K +2782 TEK R849W +3411 TEK R849W and R1108* +3376 CDKN2A R87P +32 DNMT3A R882 +1125 DNMT3A R882H +1124 DNMT3A R882P +929 PIK3CA R88Q +43 ERBB2 R896C +3434 PIK3CA R93Q +1178 PIK3CA R93W +502 KDR R961W +2790 PIK3CA R975S +3685 PTPRD R995C +3429 ARHGAP35 R997* +332 FNTB RS11623866 +338 MGMT RS16906252 +643 CBLB RS2305035 +421 TERT RS2736100 +699 SH2B3 RS3184504 +779 TYMS RS34743033 +642 MDM2 RS34886328 +482 KIT RS3733542 +641 CDKN2A RS3814960 +331 WEE1 RS3910384 +777 SLCO1B1 RS4149056 +445 ETS2 RS461155 +548 PPP1R15A RS557806 +254 KRAS RS61764370 +255 ERCC5 RS751402 +2334 EGFR Rare Mutation +3222 PIK3CA Rare Mutation +2925 PRPS1 S103I +2926 PRPS1 S103N +2927 PRPS1 S103T +3497 ERBB2 S1050L +2165 FANCA S1088F +3647 KDR S1100F +4333 ALK S1206R +4130 TP53 S127Y +3969 BRCA1 S1486C +1499 PIK3CA S158L +3964 BRCA1 S1655F +3557 PTEN S170R +3391 TP53 S183L +2347 IL7R S185C +1671 ROS1 S1986F +1670 ROS1 S1986Y +2856 ROS1 S1986Y/F +4290 MPL S204P +10 ARAF S214C +2715 MTOR S2215F +542 MTOR S2215Y +4143 TP53 S227C +243 ATM S2289* +1065 TP53 S241C +2777 TP53 S241F +3788 TP53 S241T +628 FGFR3 S249C +3674 NOTCH1 S2514A +3676 NOTCH1 S2514E +3677 NOTCH1 S2514P +4312 SMAD2 S276L +1562 SMO S278I +3709 AR S296R +497 ERBB2 S310F/Y +2946 FGFR2 S320C +3710 AR S334P +3254 CTNNB1 S33F +128 U2AF1 S34Y/F +2281 CTNNB1 S37C +1495 ABL1 S438C +2615 EGFR S442I +2614 EGFR S442R +2897 NT5C2 S445F +3502 ERCC2 S44L +1832 POLE S459F +1286 CTNNB1 S45F +1287 CTNNB1 S45P +692 ESR1 S463P +2601 EGFR S464L +2602 EGFR S464T +825 ARAF S490T +2610 EGFR S492C +453 EGFR S492R +1206 KIT S501_A502INSAY +1589 SMO S533N +3329 FLT3 S574Δ +1290 JAK3 S61C +1659 KIT S628N +2956 JAK1 S646F +1676 FBXW7 S668FS*39 +980 KIT S692L +822 JAK1 S703I +720 EGFR S720 +3680 JAK1 S729C +891 EGFR S752_I759delSPKANKEI +3723 AR S759P +562 EGFR S768I +1443 EGFR S768N +145 DDR2 S768R +1182 EGFR S784F +2701 CBL S80N +3347 SPOP S80R +3750 ARHGAP35 S866F +451 ABCB1 S893A/T +262 ABCB1 S893T +3652 KDR S925F +3645 PIM1 S97N +536 SULT1E1 SNP +495 MDM2 SNP309 +478 AR SPLICE VARIANT 7 +3108 VHL Single Allele Deletion +3409 TEK T1105N and T1106N +4330 ALK T1151K +1493 ALK T1151M +743 MLH1 T117M +3417 TP53 T125R +3684 TP53 T125T +810 RUNX1 T148HFSX9 +3558 PTEN T160I +491 HSPH1 T17 DELETION +2733 TP53 T170 +3979 BRCA1 T1720A +2712 MTOR T1977K +3412 MTOR T1977R +540 FLT3 T227M +3782 TP53 T230S +1587 SMO T241M +3675 NOTCH1 T2512A +995 EGFR T263P +901 ATM T2666A +3629 BRCA2 T2722R +3407 PTEN T277A +3406 PTEN T277I +3403 PTEN T277R +2918 PRPS1 T303S +870 BTK T316A +2618 EGFR T415M +1546 KIT T417_D419DELTYDINSI +2620 KIT T417_D419delinsY +1285 CTNNB1 T41A +3503 ERCC2 T46S +2795 BRAF T488_P492del +974 KIT T574A +3445 BRAF T598I +2824 BRAF T599_V600insT +2387 CSF3R T618I +979 KIT T661I +1267 KIT T670I +861 EGFR T725M +3686 PTPRD T781A +1573 EGFR T785A +34 EGFR T790M +2331 ERBB2 T798I +1305 ERBB2 T798M +4321 NFE2L2 T80K +1463 EGFR T847I +1467 EGFR T854A +871 ERBB2 T862A +4074 TFEB TFEB amplification +2669 TGFBR3 TGFBR3 +3473 TNC TNC-L +3486 TOP2A TOP2A/90 +590 BIRC3 TRUNCATING MUTATION +708 BRCA2 TRUNCATING MUTATION +3110 CREBBP TRUNCATING MUTATIONS AND DELETERIOUS SUBSTITUTIONS +223 TP53 Truncating Mutation +729 UGT1A1 UGT1A1*28 +732 UGT1A1 UGT1A1*60 +701 ERBB3 V104M +2624 TP53 V135A +1254 TP53 V143A +2991 KRAS V14I +3968 BRCA1 V1534M +2836 MAP2K1 V154I +3059 BCL2 V156D +1143 NOTCH1 V1577A +1144 NOTCH1 V1577E +3574 TP53 V157D +1092 TP53 V157F +1249 BRCA2 V159M +3554 PTEN V166I +3970 BRCA1 V1688del +4117 TP53 V173G +1086 TP53 V173L +4139 TP53 V173M +3998 BRCA1 V1804D +3595 TP53 V197E +4120 TP53 V197L +2805 MAP2K1 V211D +1251 BRCA2 V211I +1250 BRCA2 V211L +3507 ERCC2 V242F +2348 IL7R V253G +792 PTPRD V253I +4123 TP53 V272G +1035 TP53 V272L +3790 TP53 V274F +2751 TP53 V274S +1604 ABL1 V289I +2277 CRLF2 V2del +1576 SMO V321M +775 MSH6 V352I +2841 MAP2K2 V35M +2702 CBL V391I +1831 POLE V411L +2612 EGFR V441D +2613 EGFR V441F +2611 EGFR V441G +745 MLH1 V49A +728 MLH1 V534R +2938 PRPS1 V53A +3217 FGFR4 V550E +2399 FGFR3 V555L +2400 FGFR3 V555M +1543 KIT V555_I571DEL +957 KIT V555_P573DEL +956 KIT V555_Q556DEL +2695 KIT V555_V559DEL +1316 KIT V559 +969 KIT V559A +968 KIT V559D +966 KIT V559DEL +970 KIT V559G +967 KIT V559_V560DEL +971 KIT V560D +202 KIT V560DEL +972 KIT V560G +1550 KIT V560_L576DEL +247 PDGFRA V561A +941 PDGFRA V561D +2781 FGFR1 V561M +1551 KIT V569_L576DEL +1632 FLT3 V592_D593INSDFREY +3452 BRAF V599D +3446 BRAF V599E +3453 BRAF V599K +3454 BRAF V599R +17 BRAF V600 +11 BRAF V600D +12 BRAF V600E +1199 BRAF V600G +563 BRAF V600K +1404 BRAF V600L +1405 BRAF V600M +991 BRAF V600R +2820 BRAF V600_K601>E +1658 BRAF V600_K601DELINSD +2821 BRAF V600_S602>DT +3241 BRAF V600_S605delinsDV +2825 BRAF V601E +2834 MAP2K1 V60E +64 JAK2 V617F +73 KIT V654A +3205 PDGFRA V658A +1289 JAK3 V722I +3230 RET V738A +1001 EGFR V742A +3721 AR V757A +3722 AR V757I +1578 EGFR V769A +736 EGFR V769_D770insASV +1310 ERBB2 V773 +872 ERBB2 V773A +1311 ERBB2 V773L +1892 EGFR V774A +1894 EGFR V774M +1567 EGFR V774_C775insHV +44 ERBB2 V777L +2568 RET V804M +1897 EGFR V834I +45 ERBB2 V842I +1466 EGFR V851I +781 ERBB3 V855A +3668 PIK3CA V955G +3001 PIK3CA V955I +312 EGFR VIII +1521 CDKN2A W110* +3691 PTPRB W130R +2728 TP53 W146 +1590 PTCH1 W170X +3978 BRCA1 W1718C +1555 BRCA1 W1815X +3995 BRCA1 W1837R +3627 BRCA2 W2626C +1563 SMO W281C +1583 SMO W281L +2945 FGFR2 W290C +3688 ABL2 W469C +2667 MPL W515L +837 SMO W535L +959 KIT W557G +958 KIT W557R +960 KIT W557T +962 KIT W557_E561del +961 KIT W557_K558del +1498 KIT W557_V559insC +1539 PDGFRA W559_R560DELWR +1292 JAK1 W690* +1591 PTCH1 W712X +1571 EGFR W731L +176 AR W742 +2703 CBL W802* +3250 VHL W88* +935 PIK3CA Y1021C +2913 MET Y1021H +3762 TP53 Y126D +3763 TP53 Y126S +3456 EP300 Y1414C +3500 ERCC2 Y14C +1645 PAPPA2 Y1520X +1087 TP53 Y163C +3769 TP53 Y163H +3800 TP53 Y163N +2720 TP53 Y205 +3506 ERCC2 Y209C +922 TP53 Y220C +3779 TP53 Y220H +1596 ABL1 Y232S +1068 TP53 Y234C +3781 TP53 Y234H +3770 TP53 Y236S +3501 ERCC2 Y24C +803 RUNX1 Y260* +3614 BRCA2 Y2660D +3609 BRCA2 Y2726C +3690 PTPRB Y309C +2934 PRPS1 Y311C +3405 PTEN Y336* +1605 ABL1 Y342H +2377 RHEB Y35N +2638 CBL Y371H +2404 FGFR3 Y373C +3356 FGFR2 Y375C +3065 FGFR2 Y376C +1611 ABL1 Y393C +3689 ABL2 Y399C +3239 KIT Y503A +946 KIT Y503_F504insAY +1669 LYN Y508F +48 ESR1 Y537C +49 ESR1 Y537N +50 ESR1 Y537S +952 KIT Y553D +2737 KIT Y553N +953 KIT Y553_K558DEL +1542 KIT Y553_W557DELYEVQW +1548 KIT Y570_L576DEL +3327 FLT3 Y572Δ +3233 FLT3 Y589D +1630 FLT3 Y591_V592INSVDFREYE +165 EZH2 Y646 +3607 EZH2 Y646C +2989 EZH2 Y646F +3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V +3364 EZH2 Y646H +4090 EZH2 Y646N +2666 EZH2 Y646S +3514 FGFR3 Y647C +2986 STAT5B Y665F +3055 FLT3 Y693 +1672 EGFR Y69FS*11 +3499 ERCC2 Y72C +3606 EZH2 Y731D +3724 AR Y763C +1665 EGFR Y764_V765insHH +1575 EGFR Y801H +3228 RET Y806C +3229 RET Y806N +989 KIT Y823D +3665 ERBB2 Y835F +3070 FLT3 Y842C +3234 FLT3 Y842H +3535 PTEN Y88C +3410 TEK Y897C and R915C +1642 POLD1 Y956N +3477 ESR2 beta-2 and beta-5 +3511 CD19 delta-ex2, delta-ex5-6 +3487 BRCA1 delta11q +3482 LGR5 delta5 +2807 BRCA1 gBRCAm +3323 VEGFA low ratio of VEGF165b/VEGFtotal +3045 VHL p.F76del +3310 HDAC9 p.L33R +3057 GATA1 p.Ser51Alafs*86 +3512 BRAF p61BRAF(V600E) +3313 CDKN1A rs1059234 +2787 PRNCR1 rs1456315 +256 KIT rs17084733 +2671 CDKN1A rs1801270 +3314 CDKN1A rs1801270 and rs1059234 +705 GADD45A rs681673 +3703 GALNT14 rs9679162 +4284 VHL t(1;3)(p36.3;p25) +2429 VHL t(1;3)(q32;q13.3) +2876 VHL t(2;3)(q35;q21) +3265 VHL t(3;12)(q13.13;q24.23) +4009 VHL t(3;12)(q13.2;q24.1) +3524 MECOM t(3;21)(q26.2;q22) +3264 VHL t(3;6)(p12.3;q24.3) +4008 VHL t(3;6)(p13;q25.1) +3351 VHL t(3;8)(p13;q24.1) +3508 CD274 v242 +2422 NTRK3 ~DEPRECATED-ETV6-NTRK3 diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb new file mode 100644 index 00000000..c8833d88 --- /dev/null +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -0,0 +1,423 @@ +{ + "cells": [ + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "# Analysis for CIViC data\n", + "\n", + "This notebook contains an analysis on CIViC variant data" + ] + }, + { + "cell_type": "code", + "execution_count": 1, + "metadata": {}, + "outputs": [ + { + "name": "stderr", + "output_type": "stream", + "text": [ + "/Users/kxk102/.local/share/virtualenvs/variation-normalization-KPVKcmjd/lib/python3.10/site-packages/python_jsonschema_objects/__init__.py:49: UserWarning: Schema version http://json-schema.org/draft-07/schema not recognized. Some keywords and features may not be supported.\n", + " warnings.warn(\n" + ] + } + ], + "source": [ + "import logging\n", + "from enum import Enum\n", + "import re\n", + "from typing import Tuple, Optional\n", + "import csv\n", + "\n", + "from civicpy import civic as civicpy\n", + "from dotenv import load_dotenv\n", + "\n", + "from variation.query import QueryHandler\n", + "\n", + "logging.getLogger(\"root\").setLevel(logging.WARNING)" + ] + }, + { + "cell_type": "code", + "execution_count": 2, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "True" + ] + }, + "execution_count": 2, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "# Environment variables are set for gene-normalizer dynamodb instance and \n", + "# UTA DB credentials\n", + "load_dotenv()" + ] + }, + { + "cell_type": "code", + "execution_count": 3, + "metadata": {}, + "outputs": [], + "source": [ + "query_handler = QueryHandler()" + ] + }, + { + "cell_type": "code", + "execution_count": 4, + "metadata": {}, + "outputs": [], + "source": [ + "# Get latest data\n", + "# civicpy.update_cache(from_remote_cache=False)" + ] + }, + { + "cell_type": "code", + "execution_count": 5, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "True" + ] + }, + "execution_count": 5, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "civicpy.load_cache(on_stale=\"ignore\")" + ] + }, + { + "cell_type": "code", + "execution_count": 6, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'Total Number of variants in CIViC: 3466'" + ] + }, + "execution_count": 6, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "variants = civicpy.get_all_variants()\n", + "total_variants = len(variants)\n", + "f\"Total Number of variants in CIViC: {total_variants}\"" + ] + }, + { + "cell_type": "code", + "execution_count": 7, + "metadata": {}, + "outputs": [], + "source": [ + "class Category(str, Enum):\n", + " \"\"\"Create enum for the kind of variants that are in CIViC.\"\"\"\n", + " EXPRESSION = \"Expression\"\n", + " EPIGENETIC_MODIFICATION = \"Epigenetic Modification\"\n", + " FUSION = \"Fusion\"\n", + " FUNCTIONAL_PROTEIN_CONS = \"Functional Protein Consequence\"\n", + " FUNCTIONAL_GENE_FUNC = \"Functional Gene Function\"\n", + " REARRANGEMENTS = \"Rearrangements\"\n", + " COPY_NUMBER = \"Copy Number\"\n", + " OTHER = \"Other\"\n", + " GENOTYPES_EASY = \"Genotypes Easy\"\n", + " GENOTYPES_COMPOUND = \"Genotypes Compound\"\n", + " REGION_DEFINED_VAR = \"Region Defined Variant\"\n", + " " + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "Below are terms in CIViC that we know that the variation normalizer cannot support." + ] + }, + { + "cell_type": "code", + "execution_count": 8, + "metadata": {}, + "outputs": [], + "source": [ + "not_supported = {\n", + " Category.EXPRESSION: {\n", + " \"overexpression\", \"expression\", \"underexpression\", \"serum levels\", \n", + " \"transcription levels\"\n", + " },\n", + " Category.EPIGENETIC_MODIFICATION: {\n", + " \"methylation\", \"promoter hypermethylation\", \"promoter methylation\", \n", + " \"phosphorylation\"\n", + " },\n", + " Category.FUSION: {\n", + " \"::\", \"fusion\"\n", + " },\n", + " Category.FUNCTIONAL_PROTEIN_CONS: {\n", + " \"frameshift truncation\", \"frameshift\", \"frame shift\"\n", + " },\n", + " Category.FUNCTIONAL_GENE_FUNC: {\n", + " \"gain of function\", \"gain-of-function\", \"loss of function\", \"loss-of-function\",\n", + " \"activating mutation\", \"tkd mutation\", \"inactivation\"\n", + " },\n", + " Category.REARRANGEMENTS: {\n", + " \"translocation\", \"rearrangement\", \"double ph\", \"alu insertion\", \n", + " \"exon 20 insertion\", \"internal tandem duplications\", \"tandem repeat\"\n", + " },\n", + " Category.COPY_NUMBER: {\n", + " \"copy number\", \"repeat\", \"dup\"\n", + " }, \n", + " Category.OTHER: {\n", + " \"cytoplasmic mislocalization\", \"alternative transcript\"\n", + " },\n", + " Category.GENOTYPES_EASY: {\n", + " \"diplotypes\", \"wild type\", \"wildtype\"\n", + " },\n", + " Category.GENOTYPES_COMPOUND: {\n", + " \"loss of heterozygosity\", \"biallelic inactivation\", \"bi-allelic inactivation\",\n", + " \"homozygosity\", \n", + " },\n", + " Category.REGION_DEFINED_VAR: {\n", + " \"deleterious mutation\", \"exon deletion\", \"domain mutation\", \"polymorphism\", \n", + " \"non-p-loop mutation\", \"p-loop mutation\"\n", + " }\n", + "}" + ] + }, + { + "cell_type": "code", + "execution_count": 9, + "metadata": {}, + "outputs": [], + "source": [ + "def get_variant_name(variant: civicpy.Variant) -> Tuple[Optional[str], str]:\n", + " \"\"\"Get query to use from CIViC Variant data. If c. in query name, we will use the\n", + " genomic representative. \n", + "\n", + " :param civicpy.Variant variant: CIViC Variant record\n", + " :return: (variant name, whether the variant name is protein or genomic)\n", + " \"\"\"\n", + " variant_name = None\n", + " variant_query_type = None\n", + " if \"c.\" in variant.name:\n", + " variant_name = ([expr for expr in variant.hgvs_expressions \n", + " if \"g.\" in expr] or [None])[0]\n", + " variant_query_type = \"genomic\"\n", + " else:\n", + " variant_name = variant.name.strip()\n", + " variant_query_type = \"protein\"\n", + "\n", + " return variant_name, variant_query_type\n" + ] + }, + { + "cell_type": "code", + "execution_count": 10, + "metadata": {}, + "outputs": [], + "source": [ + "\n", + "# This file contains CIViC Variants where there are no queries available.\n", + "# One example would be a CIViC Variant whose name has \"c.\" in it. In this case,\n", + "# we want the genomic representative. We look at the HGVS expressions to find a genomic\n", + "# expression. If there is no genomic HGVS expression, we have no name for a query\n", + "no_query_wf = open(\"no_query.csv\", \"w+\")\n", + "no_query_wr = csv.writer(no_query_wf, delimiter=\"\\t\")\n", + "no_query_wr.writerow([\"variant_id\", \"variant_name\"])\n", + "\n", + "# This file contains protein queries (gene + variant_name) we SHOULD be able to\n", + "# normalize\n", + "protein_variants_wf = open(\"all_protein_variant_queries.csv\", \"w+\")\n", + "protein_variants_wr = csv.writer(protein_variants_wf, delimiter=\"\\t\")\n", + "protein_variants_wr.writerow([\"variant_id\", \"gene_name\", \"variant_name\"])\n", + "\n", + "# This file contains genomic queries (genomic HGVS expressions) we SHOULD be able to\n", + "# normalize\n", + "genomic_variants_wf = open(\"all_genomic_variant_queries.csv\", \"w+\")\n", + "genomic_variants_wr = csv.writer(genomic_variants_wf, delimiter=\"\\t\")\n", + "genomic_variants_wr.writerow([\"variant_id\", \"hgvs_g\"])\n", + "\n", + "# This file contains CIViC Variants we do not currently support in Variation Normalizer.\n", + "# In these cases, we do not even attempt to try to normalize\n", + "not_supported_wf = open(\"not_supported_variants.csv\", \"w+\")\n", + "not_supported_wr = csv.writer(not_supported_wf, delimiter=\"\\t\")\n", + "not_supported_wr.writerow([\"variant_id\", \"gene_name\", \"variant_name\", \"category\"])\n", + "\n", + "# This file contains CIViC Variant queries that we were not able to normalize.\n", + "unable_to_normalize_wf = open(\"unable_to_normalize_queries.csv\", \"w+\")\n", + "unable_to_normalize_wr = csv.writer(unable_to_normalize_wf, delimiter=\"\\t\")\n", + "unable_to_normalize_wr.writerow([\"variant_id\", \"query\", \"query_type\",\n", + " \"exception_raised\", \"message\", \"warnings\"])\n", + "\n", + "# Category name for variants we do not support: number of variants we found\n", + "category_counts = {c: 0 for c in Category.__members__}\n", + "\n", + "i = 0\n", + "for variant in variants:\n", + " v_name, v_q_type = get_variant_name(variant)\n", + " if not v_name:\n", + " no_query_wr.writerow([variant.id, variant.name])\n", + " continue\n", + " \n", + " gene_name = variant.gene.name.strip()\n", + " v_name_lower = v_name.lower()\n", + " \n", + " categories = set()\n", + " if v_name_lower in {\"loss\", \"deletion\"}:\n", + " categories.add(Category.FUNCTIONAL_GENE_FUNC)\n", + " elif v_name_lower == \"mutation\":\n", + " categories.add(Category.REGION_DEFINED_VAR)\n", + " else:\n", + " if re.match(r\".*e\\d+-e\\d+\", v_name_lower): # ex: e20-e20\n", + " categories.add(Category.FUSION)\n", + " \n", + " if \"exon\" in v_name_lower:\n", + " if {x for x in {\"deletion\", \"mutation\"}}:\n", + " categories.add(Category.REGION_DEFINED_VAR)\n", + " \n", + " if v_name_lower.endswith(\"fs\"):\n", + " categories.add(Category.FUNCTIONAL_PROTEIN_CONS)\n", + "\n", + " for k, v in not_supported.items():\n", + " if {x for x in v if x in v_name_lower}:\n", + " categories.add(k)\n", + "\n", + " if len(categories) > 1:\n", + " # Those with multiple categories will be classified as other\n", + " categories = {Category.OTHER}\n", + "\n", + " if len(categories) == 1:\n", + " category_name = categories.pop()\n", + " category_counts[category_name.name] += 1\n", + " not_supported_wr.writerow([variant.id, gene_name, variant.name, category_name])\n", + " else:\n", + " # We should support this, so we need to query the variation normalizer\n", + " if v_q_type == \"protein\":\n", + " q = f\"{gene_name} {v_name}\"\n", + " protein_variants_wr.writerow([variant.id, gene_name, v_name])\n", + " else:\n", + " q = v_name\n", + " genomic_variants_wr.writerow([variant.id, q])\n", + "\n", + " try:\n", + " variation_norm_resp = await query_handler.normalize_handler.normalize(q)\n", + " if not variation_norm_resp.variation_descriptor:\n", + " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, False,\n", + " \"unable to normalize\",\n", + " variation_norm_resp.warnings])\n", + " except Exception as e:\n", + " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, True, str(e),\n", + " None])\n", + "\n", + "# Close all files\n", + "no_query_wf.close()\n", + "protein_variants_wf.close()\n", + "genomic_variants_wf.close()\n", + "not_supported_wf.close()" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Variants we do not support" + ] + }, + { + "cell_type": "code", + "execution_count": 11, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'Total number of variants we do not support in the Variation Normalizer: 939'" + ] + }, + "execution_count": 11, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"Total number of variants we do not support in the Variation Normalizer: \"\\\n", + "f\"{sum(category_counts.values())}\"" + ] + }, + { + "cell_type": "code", + "execution_count": 12, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'FUSION': 311,\n", + " 'EXPRESSION': 280,\n", + " 'REGION_DEFINED_VAR': 154,\n", + " 'FUNCTIONAL_GENE_FUNC': 82,\n", + " 'FUNCTIONAL_PROTEIN_CONS': 30,\n", + " 'COPY_NUMBER': 27,\n", + " 'EPIGENETIC_MODIFICATION': 15,\n", + " 'REARRANGEMENTS': 15,\n", + " 'OTHER': 14,\n", + " 'GENOTYPES_EASY': 7,\n", + " 'GENOTYPES_COMPOUND': 4}" + ] + }, + "execution_count": 12, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "dict(sorted(category_counts.items(), key=lambda x: x[1], reverse=True))" + ] + } + ], + "metadata": { + "kernelspec": { + "display_name": "variation-normalization-KPVKcmjd", + "language": "python", + "name": "python3" + }, + "language_info": { + "codemirror_mode": { + "name": "ipython", + "version": 3 + }, + "file_extension": ".py", + "mimetype": "text/x-python", + "name": "python", + "nbconvert_exporter": "python", + "pygments_lexer": "ipython3", + "version": "3.10.8" + }, + "orig_nbformat": 4, + "vscode": { + "interpreter": { + "hash": "0be8ba9a7b89517724a412b9d40e184059795303560bd1108143a8aed13113be" + } + } + }, + "nbformat": 4, + "nbformat_minor": 2 +} diff --git a/notebooks/analysis/civic/no_query.csv b/notebooks/analysis/civic/no_query.csv new file mode 100644 index 00000000..109c7d70 --- /dev/null +++ b/notebooks/analysis/civic/no_query.csv @@ -0,0 +1,407 @@ +variant_id variant_name +4170 3'UTR alteration (c.*70C>T) +4214 T124I (c.371C>T) +4216 W8* (c.23G>A) +4278 Y112C (c.335A>G) +4232 c.212+1G>T +2488 *214G (c.640T>G) +3196 *214Gext*14 (c.640T>G) +2930 106insR (c.316insGCC) +3083 180fs*22 (c.540delC) +3102 3' UTR alteration (c.*1149A>G) +2024 3'UTR alteration (c.639+10C>G) +3194 A122V (c.365C>T) +2482 A149fs (c.446delG) +2023 A149fs (c.449del14-nt) +2962 A28fsX109 (c.83insG) +2442 A50= (c.150C>G) and Splice Site (c.463-1G>T) +2265 A56_P59del (c.166_178del) +3170 C162Wfs*12(c.485dupG) +4181 C162Y(c.486C>G) and L188V(c.562C>G) and P81S(c.241C>T) and F119L(c.357C>G) +4108 C77Sfs*82 (c.230del) +3245 C77fs (c.230del) +3133 D121N (c.361G>A) +3567 D121Y(c.361G>T) +2553 D121_A122del (c.361_366del) +3156 D126Efs* (c.377_378insG) +1918 D126FS (c.375_376insC) +3179 D126N (c.376G>A) / S183L (c.548C>T) +3040 D143= (c.429C>T) +4207 D143= (c.429C>T) and c.340+770T>C +4153 D143Efs*13 (c.429_438del) +1844 D143fs (c.430delG) +2479 D197Rfs* (c.588_588dupA) +3260 D213E (c.639T>G) +2673 D679N (c.2035G>A) +3360 D92V (c.275A>T) +2514 D92fs (c.275delinsCC) +2963 D96H (c.238G>C) +4192 Deletion AND I151S(c.452T>G) +4193 Deletion AND R200W (c.598C>T) +4194 Deletion AND R69C (c.205C>T) +4155 E173Rfs*29 (c.516del) +2529 E189_D190del (c.565_570delGAAGAC) +4234 E21A (c.62A>C) +4275 E31= (c.93G>A) +3383 E52*(c.156G>T) +1735 E52fs* (c.156G>T) +3635 E55* (c.162_163insT) +4077 E55Gfs*77 (c.163dup) +2301 E55fs (c.162delG) +3744 E55fs (c.163delG) +3654 E55fs (c.163dupG) +3036 E70Dfs(c.210delG) +2538 E70K (c.208G>A) and Splice Region (c.340+5G>C) +2304 E70fs (c.209_210delAG) +4161 E73* (c.217C>T) +2310 E94_P97del (c.281_291del) +4168 Exon 1-3 Deletion and P81S (c.241C>T) +4169 Exon 1-3 Deletion and Splice Region (c.340+5G>C) +4250 Exon 3 deletion (c.464-11 T>A) +4245 Exon 3 deletion AND S139C (c.416C>G) +4206 F136C (c.407G>T) +3984 F136L (c.406T>C) +3363 F136LFS*23 (c.408del) +3295 F136V (c.406T>G) +2423 F136fs (c.407delC) +2558 F137fs (c.408insT) +3143 F148* (c.443_455delinsA) +3129 F148Lfs*11 (c.444del) +2096 F158ins (c.472insTTT) +2542 F190L (c.568T>C) +4083 F76* (c.227T>A; c.228C>A) +4082 F76_C77del (c.226_231del) +2271 F76_N78del (c.226_232del) +3494 F76del (c.224_226delTTC) +4081 F76del (c.226_228del) +3577 F76del (c.226_228delTTC) +3157 F76del (c.227_229del) +2018 F76del (c.227_229delTCT) +3632 F76fs (c.224_225insA) +1893 F91* (c.272_273delinsAA) +3105 F?C (c.?T>G) +3637 G104FS (c.309_310delTG) +2252 G104fs (c.309delT) +2266 G104fs (c.310delG) +2551 G104fs*158 (c.311delC) +3085 G104fs*23 (c.309_322del14) +4084 G106Tfs*54 (c.315_316insAC) +2073 G106fs (c.316insA) +4174 G114D (c.340+1G>A) +2455 G114Vfs*45 (c.339delA) +2129 G114dup (c.342dupGGT) +2153 G114fs (c.326_339dupTCCACAGCTACCGA) +2135 G123fs (c.369_375delGACACAC) +3099 G127_L128delinsGF (c.381_382delinsTT) +4172 G144Dfs*15 (c.431del) +2290 G144E (c.431G>A) +4211 G144R (c.430G>A) and c.340+694_340+711dup +3197 G144R (c.430G>C) +2319 G144fs (c.429_430insGGAC) +2320 G144fs (c.430_433delGGAC) +1949 G144fs (c.432insG) +3736 G30Dfs*32 (c.89_297del) +2961 G336fs563X (c.1007_1013del) +3046 G34Rfs(c.99_100insA) +3263 G93A (c.278G>C) +2097 G93_Y98del (c.275_292del) +1812 G93fs (c.278delG) +2346 Glu34Lys (c.100G>A) +4185 H115Pfs*44(c.344delA) and P61=(c.183C>G) +2540 H115Q (c.346C>A) +2136 H125fs (c.374insA) +4093 H191Tfs*11 (c.571del) +2328 H191fs (c.570_574delCCACC) +1965 I109TfsX50 (c.326delT) +2476 I151N (c.452T>A) +2095 I151fs (c.452insA) +3146 I75S (c.224T>G) +3136 I75Sfs*84 (c.223del) +3154 I75Yfs*57 (c.224dupT) +2487 I75del (c.221delTCA) +2134 Intronic deletion (c.341-13delCGTTTCCAACAATTTCTCGGTGT) +2311 K114fs (c.339_340delAG) +3354 K159* (c.474_475insT) +4088 K159Efs*15 (c.473dup) +4089 K159delinsI* (c.475_476insTTT) +4100 K159fs (c.472_473insT) +2137 K159fs (c.474_476delGAAinsC) +2040 K159fs (c.477_478insCA) +2327 K171fs (c.512_516delAGCCT) +2140 K196fs (c.584_585delAG) +2499 K196fs (c.588insA) +3294 L101G (c.301_302delCTinsGG) +2312 L116fs (c.347delT) +2381 L118P (c.353T>C) and R107G (c.319C>G) +2313 L118fs (c.349_350insG) +3066 L128F (c.382C>T) +1768 L129Q (c.386insAGA) +3172 L129Wfs*?(c.383delT) +1996 L129fs (c.384delT) +2557 L135fs (c.405delA) +3119 L140PfsX4 (c.418dup) +4087 L140Qfs*3 (c.419_420del) +3753 L140Sfs*4 (c.417dup) +1960 L140fs (c.417_418delTC) +3513 L140fs*3 (c.419_420delTC) +4236 L153Q (c.458T>A) +1802 L153fs (c.457delC) +2324 L158_K159del (c.472_477del) +4160 L158dup (c.473_474insTTT) +3278 L163R (c.488T>G) +2459 L178P (c.532C>T) +3091 L178P (c.533T>A) +4092 L178_D179insRVKPEL (c.531_532insCTGAGAGTAAAGCCTGAA) +4238 L188V(c.562C>G) +4199 L188del (c.562_564delCTG) +4156 L198Gfs*57 (c.592_593del) +3480 L198P (c.593T>C) and P25L (c.74C>T) +4225 L201P (c.602T>C) +2262 L63fs (c.187delC) +2087 L63fs (c.189_192delGCGC) +2506 L85_E94del (c.254_283del30bp) +1925 L85fs (c.253_254ins38) +2305 L85fs (c.253delC) +2549 L89R (c.266T>G) +3164 L89S (c.265C>T) +3720 M3I(c.3G>A) and M211L (c.631A>C) +2497 M54Gfs*77 (c.160_161delAT) +2269 M54_A56del (c.159_168del) +2545 M54fs (c.160_175del) +2473 M54fs (c.160delA) +1981 N100fsX131 (c.298_299InsA) +4271 N131*(c.390dupT) +2315 N131fs (c.389delT) +2272 N141fs (c.421_422delAA) +1823 N141fs (c.422del) +3186 N150Ifs*9 (c.449del) +2029 N150fs (c.445_458del) +3493 N150fs (c.446delC) +3743 N150fs (c.448delA) +3759 N174FS*29 (c.519insAA) +3317 N174Lfs (c.520_521del) +2253 N174fs (c.520delA) +4230 N193fs (c.576delA) +3655 N67_V74del (c.197_220del) +4078 N67_V74del (c.197_221del) +4159 N67_V74del (c.198_221del) +2547 N67fs (c.197_213del) +4201 N90del (c.268_270del) +2309 N90fs (c.269delA) +1978 Null (c.-678-?_340+?del) +1979 Null (c.-678-?_642+?del) +4264 Null (c.341+1_341–1) +3248 P103H (c.308C>A) +4265 P119L (c.355T>C) +2866 P138= (c.414A>G) +2526 P146Gfs*14 (c.435_436insGG) +3162 P154= (c.462A>G) +4262 P154Qfs4*(c.461delC) +2879 P154Rfs (c.461_462delCA) +2274 P172fs (c.514delC) +4263 P192L (c.575C>T) +3353 P192R (c.575C>G) +4165 P25L (c.74C>T) AND D126Rfs*6 (c.375_376insA) AND E55Rfs(c.163delG) +3087 P25L (c.74C>T) and P86T (c.256C>A) +3491 P2=(c.6C>G) +4176 P2=(c.6C>G) and P81S(c.241C>T) +2090 P40fs (c.118ins) +4233 P45R (c.134C>G) +4202 P59_R64del (c.174_191del) +2474 P59fs (c.176insAGCAdelTCCTGCGCT) +3076 P61_C77del (c.181_231del) +2303 P61_S65del (c.183_195del) +2263 P61fs (c.181delC) +2121 P61fs (c.181delCCGT) +2014 P61fs (c.183insC) +2546 P61fs Stop at 121(c.180_208del) +4080 P71Lfs*61 (c.211_212insT) +1955 P71fs (c.211insT) +4097 P76del (c.227_229del) +3298 P81S (c.241C>T) and L188V (c.562C>G) +3185 P86Afs*46 (c.254_255insC) +2496 P86S (c.256C>T) and Splice Region (c.340+5G>C) +1942 P86S (c.257C>T) +2306 P86fs (c.255_256delGC) +3190 P95Rfs*64 (c.284del) +2515 P97Afs*35 (c.287_288insA) +3199 P97L (c.290C>T) and L116P (c.347T>C) +4189 Partial Deletion and P61=( c.183C>G) +2443 Q132Hfs*45 (c.343_395dup) +1882 Q132P (c.395A>C) +2267 Q132fs (c.395_396delAA) +2321 Q145H (c.435G>T) +2155 Q145Tfs* (c.432_433insA) +2525 Q145fs (c.433_437delCAGCC) +1943 Q164H (c.492G>C) +4212 Q164H (c.492G>T) and c.340+574A>T +4094 Q203Gfs*52 (c.607_608del) +2383 Q203TfsX53 (c.606dupA) +3657 Q203fs (c.607_608delCA) +2002 Q73FS (c.215delC) +2444 Q73Pfs*59 (c.217dupC) +2131 Q73fs (c.214insGCCC) +3145 Q96_P102del (c.287_307del) +4110 Q96del (c.287_289del) +2251 Q96fs (c.286insT) +3176 R107Pfs*25(c.314_315insC) +4227 R107S (c.319C>A) +3132 R108Hfs*23 (c.323_324del) +4085 R108Lfs*52 (c.322_323insTG) +3633 R108dup (c.322_324dupCGC) +3656 R108fs (c.322_323insTG) +2537 R108fs (c.323delGC) +2877 R120* (c.358A>T) +2494 R120T (c.359G>C) +2552 R120fs*158 (c.359delG) +2996 R1273* (c.3817C>T) +4096 R161* (c.481C>T) AND R200fs (c.598del) +2273 R161fs (c.481insC) +3103 R167G (c.500G>A) +4167 R167Q (c.500G>A) and I151N (c.452T>A) +4166 R167Q (c.500G>A) and T105M (c.314C>T) +3121 R167Q(c.500G>A) +4180 R167Q(c.500G>A) and P81S(c.241C>T) +4210 R167Q(c.500G>A) and c.464-94T>A +4239 R167W(c.499C>T) +2486 R167fs (c.501insTTGTCCGT) +1779 R167fs (c.502insTTGTCCGT) +1975 R167fsX4 (c.499_504delinsT) +3187 R176Gfs*26 (c.526del) +3355 R177SFS*22 (c.531_542delinsTC) +4266 R177Tfs*23 (c.530_536del) +3191 R177_L178ins6 (c.531_532ins18) +2181 R177ins (c.531insCTGAGAGTAAAGCCTGAA) +3044 R197_L198ins7(c.572_592dup) +3192 R200W (c.598C>T) and R161Q (c.482G>A) +4190 R200W (c.598C>T) and V130L (c.388G>C) +4208 R200W (c.598C>T) and c.340+694_340+711dup +4095 R205Hfs*50 (c.614_615del) +3658 R205fs (c.614_615delGC) +2965 R292X (c.877C>T) +3134 R31* (c.91C>T) +2959 R474C c.1420C>T +1964 R60FS (c.179delG) +2510 R69AFS*63 (c.204_205insG) +4079 R69Afs*63 (c.204dup) +1948 R69fs (c.204insG) +4204 R79G (c.235C>G) +2448 R79_S80del (c.236_241delGCAGTC) +3013 R82_V84del (c.243delGCGCGTCGT) +2264 R82_V84del (c.244_252del) +3747 S111I (c.332G>T) +4171 S111N (c.332G>A) +2316 S139fs (c.415insC) +4154 S168Tfs*2 (c.503_513del) +3135 S38P (c.112T>C) +4076 S43_E47del (c.123_137del) +4231 S43_E47dup (c.123_137dup) +4099 S65* (c.189_192del) +2535 S65L (c.194C>T) +3015 S72Afs*? (c.213_214insGCCC) +3704 S72fs (c.214_215insGCCC) +2462 S72fs (c.216delC) +4109 S80Ifs*79 (c.239del) +4184 S80N (c.239G>A) and P25L (c.74C>T) +1792 S80R (c.240T>G) +2518 Splice Region (c.340 3_340 10delACGGGCCCinsCG) +4162 Splice Region (c.340+1_340+5del) +4226 Splice Region (c.340+2T>C) +3107 Splice Region (c.464-3C>T) +4086 Splice Site (c.340+2_340+6del) +4254 Splice Site (c.340+563C>T) +4255 Splice Site (c.340+578C>T) +4256 Splice Site (c.340+617C>G) +4257 Splice Site (c.340+682T>C) +4258 Splice Site (c.340+725A>T) +4259 Splice Site (c.340+866C>A) +4243 Splice Site (c.341-3T>G) +3436 Splice Site (c.341-6C>T) +2457 Splice Site (c.464-2G>A) +3370 Splice site (c.463+2A>C) +3150 T100Nfs*32 (c.298dupA) +2471 T104fs (c.313_315delC) +4235 T105M (c.314C>T) +1954 T105fs (c.315insAC) +4205 T124P (c.370A>C) +3479 T124del (c.369_371del) +2314 T124fs (c.370_371insTGCAGGA) +3738 T133Nfs*2 (c.397dup) +2556 T133fs*157 (c.397_400delACTG) +2091 T152fs (c.455insA) +2092 T157fs (c.472ins) +2094 T157fs (c.472ins1-nt) +2142 T202fs (c.606insA) +2539 V114R (c.341T>C) +2086 V130I (c.388G>A) and R200W (c.598C>T) +4246 V130P (c.388G>T) +3366 V130Wfs*30 (c.385_386dup) +4198 V155= (c.465G>C) +2046 V155L (c.463G>C) +3985 V155L (c.463G>T) +2477 V155fs (c.464_468delTGTAT) +3748 V165G (c.494T>G) +4091 V165Lfs*5 (c.492del) +4279 V165fs (c.493del) +3089 V166Dfs*9 (c.480_481insCGATGCCTCCAGGT) +3362 V166SFS*4 (c.496_506del) +2325 V166fs (c.498delC) +3086 V181fs (c.541delG) +1977 V194fs (c.581_582del) +3184 V62Cfs*5 (c.180del) +2509 V62Efs*71 (c.185_193delTGCTGCGCTinsAGCA) +3189 V62Gfs*66 (c.185_195del) +3261 V62fs (c.180delG) +2447 V66Gfs*89 (c.197_209del) +2099 V66del (c.197_220del) +2445 V74Sfs*53 (c.219_232delGGTCATCTTCTGCA) +4281 V74fs (c.220del) +2548 V84fs (c.249_255del) +4179 V87Gfs*71(c.260_263del) and P81S(c.241C>T) +3741 V87fs (c.255_256insC) +2470 W117C (c.351G>X) +3142 W117Cfs*42 (c.351del) +3715 W117R (c.349T>C) +3634 W117fs (c.349dupT) +3739 Y175Tfs*27 (c.523del) +3352 Y98Afs(c.282_291dup) +2450 Y98C (c.293A>G) +3021 c.-195G>A +3034 c.-195G>A/C +2634 c.-61_-51dup11 +3174 c.-65_-55dup11 +2633 c.-77_-32del +3035 c.1149A>G +2373 c.128-?_250+? +3727 c.1285dupC +3002 c.1396C>T +3267 c.1477C>T +2884 c.151-1G>C +3404 c.209+5G>A +2374 c.251-?_429+? +4151 c.329ins2 +4228 c.340+384G>C +4213 c.340+617C>G and c.340+648T>C +4209 c.340+694_340+711dup +3041 c.340+770T>C +4178 c.340+770T>C and R200W (c.598C>T) +3161 c.340+7G>A +2435 c.341-59_341-14del +4197 c.341-59_341-14del AND F136fs (c.408delT) +4152 c.358ins2 +3088 c.463+2T>G +3365 c.463+37_463+39del +3159 c.463+43A>G +4173 c.502ins8bp +2507 c.516_517dupGTCAAGCCT and c.532_542delCTGGACATCGTinsATTA +4157 c.563ins20 +3047 c.56_57DupInvCGGGAGGC +3039 c.652T>A +3050 c.7089+1del +3051 c.7515+1_2del +2433 c.89c297 +3049 c.902-1G>T +3101 c.–65_–55dup11 +4191 c.–65_–55dup11 AND 3' UTR alteration (c.*1149A>G) +2431 c.−213− ?_463 ?del +4247 p.L159Es*15 (c.473dup) diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv new file mode 100644 index 00000000..5e825d5d --- /dev/null +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -0,0 +1,940 @@ +variant_id gene_name variant_name category +823 EPCAM 3' Exon Deletion Region Defined Variant +433 HIF1A 3' UTR Polymorphism Region Defined Variant +265 TYMS 5' TANDEM REPEAT Other +3195 VHL A149fs (c.444dup) Copy Number +2144 VHL A56fs (c.166dup) Copy Number +1579 EGFR A767_V769dupASV Copy Number +780 GLI1 ACTB::GLI1 Fusion +3702 NTRK2 AFAP1::NTRK2 Fusion +2577 PDGFRB AGGF1::PDGFRB C843G Fusion +285 BRAF AGK::BRAF Fusion +184 BRAF AKAP9::BRAF Fusion +552 ALK ALK Fusion G1269A Fusion +2211 BAP1 ALTERNATIVE TRANSCRIPT (ATI) Other +2772 NRG1 APP::NRG1 Fusion +3460 AR AR alternative transcripts Other +3622 TFE3 ASPSCR1::TFE3 Fusion +2846 JAK2 ATF7IP::JAK2 Fusion +2632 PDGFRB ATF7IP::PDGFRB Fusion +2178 NRG1 ATP1B1::NRG1 Fusion +1296 CTNNB1 Activating Mutation Functional Gene Function +2649 KRAS Activating Mutation Functional Gene Function +2657 ERBB2 Activating Mutation Functional Gene Function +3737 EZH2 Activating Mutation Functional Gene Function +839 ALK Alternative Transcript (ATI) Other +709 BRCA1 Alu insertion Rearrangements +461 PML B2 DOMAIN MUTATION Region Defined Variant +3312 FGFR1 BAG4::FGFR1 Fusion +3251 BCOR BCOR::CCNB3 Fusion +1 ABL1 BCR::ABL Fusion +1607 ABL1 BCR::ABL A365V Fusion +1608 ABL1 BCR::ABL A366G Fusion +1612 ABL1 BCR::ABL A397P Fusion +1027 ABL1 BCR::ABL D276G Fusion +2900 ABL1 BCR::ABL D363G Fusion +1532 ABL1 BCR::ABL D421G Fusion +3 ABL1 BCR::ABL E255K Fusion +2890 ABL1 BCR::ABL E255K V299L Fusion +1173 ABL1 BCR::ABL E255V Fusion +1526 ABL1 BCR::ABL E279K Fusion +2886 ABL1 BCR::ABL E279K Fusion +2887 ABL1 BCR::ABL E292L Fusion +1183 ABL1 BCR::ABL E292V Fusion +1487 ABL1 BCR::ABL E355G Fusion +2948 ABL1 BCR::ABL E450Q Fusion +1534 ABL1 BCR::ABL E450V Fusion +1536 ABL1 BCR::ABL E453A Fusion +1535 ABL1 BCR::ABL E453K Fusion +1509 ABL1 BCR::ABL E453Q Fusion +2370 ABL1 BCR::ABL E459K Fusion +2901 ABL1 BCR::ABL E98G Fusion +1507 ABL1 BCR::ABL F311I Fusion +1528 ABL1 BCR::ABL F311L Fusion +2358 ABL1 BCR::ABL F311V Fusion +2359 ABL1 BCR::ABL F317C Fusion +1625 ABL1 BCR::ABL F317I Fusion +241 ABL1 BCR::ABL F317L Fusion +2888 ABL1 BCR::ABL F317R Fusion +2343 ABL1 BCR::ABL F317S Fusion +1525 ABL1 BCR::ABL F317V Fusion +1184 ABL1 BCR::ABL F359C Fusion +1523 ABL1 BCR::ABL F359I Fusion +892 ABL1 BCR::ABL F359V Fusion +1152 ABL1 BCR::ABL F486S Fusion +1023 ABL1 BCR::ABL G250E Fusion +1233 ABL1 BCR::ABL G398R Fusion +1531 ABL1 BCR::ABL H396P Fusion +1030 ABL1 BCR::ABL H396R Fusion +1533 ABL1 BCR::ABL I432T Fusion +2340 ABL1 BCR::ABL L248R Fusion +2889 ABL1 BCR::ABL L248R and F359I Fusion +1022 ABL1 BCR::ABL L248V Fusion +2902 ABL1 BCR::ABL L364I Fusion +1530 ABL1 BCR::ABL L364P Fusion +1230 ABL1 BCR::ABL L384M Fusion +1232 ABL1 BCR::ABL L387F Fusion +1488 ABL1 BCR::ABL L387M Fusion +1021 ABL1 BCR::ABL M244V Fusion +2949 ABL1 BCR::ABL M244V and L364I Fusion +1524 ABL1 BCR::ABL M343T Fusion +1029 ABL1 BCR::ABL M351T Fusion +2954 ABL1 BCR::ABL M388L Fusion +2951 ABL1 BCR::ABL N146S Fusion +1529 ABL1 BCR::ABL N331S Fusion +1640 ABL1 BCR::ABL N336S Fusion +2950 ABL1 BCR::ABL N49S Fusion +1537 ABL1 BCR::ABL P480A Fusion +1024 ABL1 BCR::ABL Q252H Fusion +1600 ABL1 BCR::ABL Q252R Fusion +1527 ABL1 BCR::ABL Q300R Fusion +1613 ABL1 BCR::ABL S417Y Fusion +2953 ABL1 BCR::ABL S438C Fusion +2335 ABL1 BCR::ABL T315A Fusion +2 ABL1 BCR::ABL T315I Fusion +2885 ABL1 BCR::ABL T315V Fusion +2903 ABL1 BCR::ABL V186A Fusion +2952 ABL1 BCR::ABL V298I Fusion +1231 ABL1 BCR::ABL V299L Fusion +1609 ABL1 BCR::ABL V379I Fusion +1026 ABL1 BCR::ABL Y253F Fusion +2909 ABL1 BCR::ABL Y253F Fusion +1025 ABL1 BCR::ABL Y253H Fusion +2860 JAK2 BCR::JAK2 Fusion +2971 PDGFRA BCR::PDGFRA Fusion +594 CEBPA BIALLELIC INACTIVATION Other +656 BRAF BRAF::CUL1 Fusion +719 BRD4 BRD4::NUTM1 Fusion +532 PALB2 Biallelic Inactivation Other +2132 VHL C77fs (c.228dup) Copy Number +2769 ALK CAD::ALK Fusion +2630 CBFA2T3 CBFA2T3::GLIS2 Fusion +431 CBFB CBFB::MYH11 Fusion +626 RET CCDC6::RET Fusion +341 CD44 CD44s Expression Expression +2771 NRG1 CD74::NRG1 Fusion +465 ROS1 CD74::ROS1 G2032R Fusion +518 ROS1 CD74::ROS1 G2101A Fusion +516 ROS1 CD74::ROS1 L2026M Fusion +517 ROS1 CD74::ROS1 L2155S Fusion +3270 ABL1 CENPC::ABL1 Fusion +3252 CIC CIC::DUX4 Fusion +3987 CIC CIC::LEUTX Fusion +520 ALK CLTC::ALK Fusion +3991 PDGFB COL1A1-PDGFB fusion Fusion +2972 PDGFB COL1A1::PDGFB Fusion +821 HLA-C COPY-NEUTRAL LOSS OF HETEROZYGOSITY Genotypes Compound +599 CTLA4 CTLA4::CD28 Fusion +2229 BRAF CUX1::BRAF Fusion +447 FGF13 CYTOPLASMIC EXPRESSION Expression +1283 CDK2 CYTOPLASMIC EXPRESSION Expression +360 CDKN1B CYTOPLASMIC MISLOCALIZATION Other +191 EGFR Copy Number Variation Copy Number +746 MLH1 D667FS Functional Protein Consequence +2394 NTRK1 DDR2::NTRK1 Fusion +2706 DEK DEK::AFF2 Fusion +647 LRP1B DELETION Functional Gene Function +2685 DGKH DGKH::ZFAND3 Fusion +242 TP53 DNA Binding Domain Mutation Region Defined Variant +31 PRKACA DNAJB1::PRKACA Fusion +738 DPYD DPYD*13 HOMOZYGOSITY Genotypes Compound +737 DPYD DPYD*2A HOMOZYGOSITY Genotypes Compound +2589 DUX4 DUX4::IGH Fusion +334 VEGFA Decreased Peri-therapeutic Expression Expression +221 TP53 Deleterious Mutation Region Defined Variant +200 IKZF1 Deletion Functional Gene Function +213 PTEN Deletion Functional Gene Function +250 GSTP1 Deletion Functional Gene Function +646 SMAD4 Deletion Functional Gene Function +696 SMARCB1 Deletion Functional Gene Function +856 CREBBP Deletion Functional Gene Function +1982 SUFU Deletion Functional Gene Function +1983 PTCH1 Deletion Functional Gene Function +2654 CDKN2A Deletion Functional Gene Function +2932 VHL Deletion Functional Gene Function +3309 ATRX Deletion Functional Gene Function +4314 CDKN2B Deletion Functional Gene Function +4316 PAX5 Deletion Functional Gene Function +4317 ERG Deletion Functional Gene Function +526 BCL2L11 Deletion Polymorphism Region Defined Variant +3009 ABL1 Double Ph Rearrangements +725 MLH1 E13fs Functional Protein Consequence +763 MSH2 E28FS Functional Protein Consequence +2847 JAK2 EBF1::JAK2 Fusion +535 PDGFRB EBF1::PDGFRB Fusion +4294 EGFR EGFR::BRAF Fusion +4283 EGFR EGFR::PPARGC1A Fusion +4282 EGFR EGFR::PURB Fusion +2203 EGFR EGFR::RAD51 Fusion +4241 EGFR EGFR::SEPT14 Fusion +4343 EGFR EGFR::VSTM2A Fusion +4344 EGFR EGFR::WIF1 Fusion +5 ALK EML4::ALK Fusion +528 ALK EML4::ALK V1180L Fusion +6 ALK EML4::ALK C1156Y Fusion +2813 ALK EML4::ALK G1202del Fusion +308 ALK EML4::ALK G1269A Fusion +589 ALK EML4::ALK I1171S Fusion +7 ALK EML4::ALK L1196M Fusion +172 ALK EML4::ALK S1206Y Fusion +173 ALK EML4::ALK T1151INST Fusion +501 ALK EML4::ALK e2-e20 Fusion +500 ALK EML4::ALK e20-e20 Fusion +3204 ALK EML4::ALK e6-e19 G1269A and Amplification Fusion +503 ALK EML4::ALK e6-e20 Fusion +4020 EML4 EML4::NTRK3 Fusion +4299 NTRK3 EML4::NTRK3 Fusion +2750 ALK EML6::ALK e1-e20 and FBXO11::ALK e1-e20 Fusion +4075 EML6 EML6::NTRK3 Fusion +4308 ALK ERC1::ALK Fusion +2575 ABL1 ETV6::ABL1 Fusion +2859 JAK2 ETV6::JAK2 Fusion +3700 NTRK1 ETV6::NTRK1 Fusion +2396 NTRK2 ETV6::NTRK2 Fusion +801 NTRK3 ETV6::NTRK3 Fusion +805 NTRK3 ETV6::NTRK3 G623R Fusion +3140 ETV6 ETV6::RUNX1 Fusion +3054 EWSR1 EWSR1::ATF1 Fusion +717 DDIT3 EWSR1::DDIT3 Fusion +194 ERG EWSR1::ERG Fusion +706 EWSR1 EWSR1::FLI1 Fusion +164 FLI1 EWSR1::FLI1 e7-e6 Fusion +2385 EWSR1 EWSR1::NR4A3 Fusion +2941 EWSR1 EWSR1::WT1 Fusion +2472 VHL EXON 1-2 DELETION and BRK1 DELETION Region Defined Variant +303 STK11 EXON 1-2 MUTATION Region Defined Variant +2893 DPYD EXON 11-19 DELETION Region Defined Variant +86 NPM1 EXON 12 MUTATION Region Defined Variant +557 ASXL1 EXON 12 MUTATION Region Defined Variant +266 LRP1B EXON 12-22 DELETION Region Defined Variant +464 MET EXON 14 MUTATION and AMPLIFICATION Region Defined Variant +74 KRAS EXON 2 Mutations Region Defined Variant +1940 VHL EXON 2-3 DELETION Region Defined Variant +559 CALR EXON 9 FRAMESHIFT Other +25 CDK4 EXPRESSION Expression +57 GATA2 EXPRESSION Expression +158 AURKA EXPRESSION Expression +182 BAP1 EXPRESSION Expression +278 AKT2 EXPRESSION Expression +316 TGFA EXPRESSION Expression +318 EREG EXPRESSION Expression +319 EFNA2 EXPRESSION Expression +326 CBLC EXPRESSION Expression +328 DEFA1 EXPRESSION Expression +335 DNMT1 EXPRESSION Expression +337 PDCD4 EXPRESSION Expression +339 TFF3 EXPRESSION Expression +342 EGF EXPRESSION Expression +343 MDM2 EXPRESSION Expression +344 HMOX1 EXPRESSION Expression +355 CDKN1A EXPRESSION Expression +356 ALCAM EXPRESSION Expression +357 STMN1 EXPRESSION Expression +361 ERBB3 EXPRESSION Expression +363 UGT1A EXPRESSION Expression +365 ERBB4 EXPRESSION Expression +366 SLFN11 EXPRESSION Expression +372 CDKN1B EXPRESSION Expression +373 AGR2 EXPRESSION Expression +380 IGF1R EXPRESSION Expression +381 EPHB4 EXPRESSION Expression +383 TOP2A EXPRESSION Expression +384 TOP1 EXPRESSION Expression +386 HSPA5 EXPRESSION Expression +389 TUBB3 EXPRESSION Expression +392 CFLAR EXPRESSION Expression +393 PROM1 EXPRESSION Expression +394 FOXP3 EXPRESSION Expression +398 DUSP6 EXPRESSION Expression +400 HSPB1 EXPRESSION Expression +401 NQO1 EXPRESSION Expression +405 CXCR4 EXPRESSION Expression +406 MAGEH1 EXPRESSION Expression +410 CDX2 EXPRESSION Expression +412 POU5F1 EXPRESSION Expression +423 HLA-DRA EXPRESSION Expression +429 KIT EXPRESSION Expression +444 NEDD9 EXPRESSION Expression +474 CIP2A EXPRESSION Expression +476 MIR218-1 EXPRESSION Expression +492 ECSCR EXPRESSION Expression +493 ROBO4 EXPRESSION Expression +537 RB1 EXPRESSION Expression +546 ACTA1 EXPRESSION Expression +624 MKI67 EXPRESSION Expression +625 RAD23B EXPRESSION Expression +651 AXL EXPRESSION Expression +652 GAS6 EXPRESSION Expression +660 HIF1A EXPRESSION Expression +662 MLH1 EXPRESSION Expression +670 MYCL EXPRESSION Expression +671 HGF EXPRESSION Expression +673 FGF2 EXPRESSION Expression +700 KIF23 EXPRESSION Expression +857 NTRK3 EXPRESSION Expression +1258 PTPRF EXPRESSION Expression +1262 MDM4 EXPRESSION Expression +1284 DCC EXPRESSION Expression +2163 CTLA4 EXPRESSION Expression +2207 PDCD1LG2 EXPRESSION Expression +2208 LAG3 EXPRESSION Expression +2594 ASCL1 EXPRESSION Expression +2984 CXCL10 EXPRESSION Expression +3042 CDK6 EXPRESSION Expression +3330 TCF19 EXPRESSION Expression +2870 VHL Exon 1 (Frameshift) Other +844 VHL Exon 1 Deletion Region Defined Variant +2465 VHL Exon 1 del (151nt) Region Defined Variant +845 VHL Exon 1-2 Deletion Region Defined Variant +843 VHL Exon 1-3 Deletion Region Defined Variant +106 PIK3CA Exon 10 Mutation Region Defined Variant +1991 PIK3CA Exon 10 and Exon 21 Mutation Region Defined Variant +3311 PIK3CA Exon 10 or Exon 21 Mutation Region Defined Variant +66 KIT Exon 11 Mutation Region Defined Variant +2643 KIT Exon 13 Mutation Region Defined Variant +69 KIT Exon 14 Mutation Region Defined Variant +2778 MET Exon 14 Mutation Region Defined Variant +324 MET Exon 14 Skipping Mutation Region Defined Variant +2650 BRAF Exon 15 Mutation Region Defined Variant +2623 PDGFRA Exon 18 Mutation Region Defined Variant +375 EGFR Exon 18 Overexpression Other +2257 EGFR Exon 18 deletion Region Defined Variant +133 EGFR Exon 19 Deletion Region Defined Variant +1938 VHL Exon 2 Deletion Region Defined Variant +75 KRAS Exon 2 Mutation Region Defined Variant +1971 VHL Exon 2-3 Deletion Region Defined Variant +726 EGFR Exon 20 Insertion Other +2854 ERBB2 Exon 20 Insertion Other +105 PIK3CA Exon 21 Mutation Region Defined Variant +1939 VHL Exon 3 Deletion Region Defined Variant +1973 VHL Exon 3 Deletion Region Defined Variant +2047 CTNNB1 Exon 3 Deletion Region Defined Variant +2892 CTNNB1 Exon 3 Mutation Region Defined Variant +3749 VHL Exon 3 Variant Region Defined Variant +252 EGFR Exon 4 Deletion Region Defined Variant +350 SETBP1 Exon 4 Mutation Region Defined Variant +550 ALK Exon 4-11 Deletion Region Defined Variant +129 WT1 Exon 7 Mutation Region Defined Variant +130 WT1 Exon 9 Mutation Region Defined Variant +509 KIT Exon 9 Mutation Region Defined Variant +3100 VHL Exon Deletion Region Defined Variant +19 CCND1 Expression Expression +210 PGR Expression Expression +268 FGFR1 Expression Expression +276 CD274 Expression Expression +313 PTEN Expression Expression +314 NRG1 Expression Expression +315 AREG Expression Expression +329 ERCC1 Expression Expression +354 EGFR Expression Expression +376 ZEB1 Expression Expression +397 BRCA1 Expression Expression +533 SMAD4 Expression Expression +683 PAX8 Expression Expression +2209 DLL3 Expression Expression +2595 HDAC2 Expression Expression +2914 ALK Expression Expression +2966 MGMT Expression Expression +2993 CDK5 Expression Expression +3014 CSF1R Expression Expression +3319 BTK Expression Expression +3320 BLK Expression Expression +3992 STAT1 Expression Expression +4336 FLT3LG Expression Expression +2621 KIT F506_F508DUP Copy Number +2158 VHL F76fs (c.222_225dup) Copy Number +1912 VHL F76fs (c.223_224insT) Copy Number +2656 BRAF FAM131B::BRAF Fusion +2987 BRAF FAM73A::BRAF Fusion +2743 FGFR1 FGFR1OP2::FGFR1 Fusion +783 FGFR2 FGFR2::AHCYL1 Fusion +782 FGFR2 FGFR2::BICC1 Fusion +52 FGFR2 FGFR2::MGEA5 Fusion +54 FGFR2 FGFR2::TACC3 Fusion +53 FGFR3 FGFR3::BAIAP2L1 Fusion +830 FGFR3 FGFR3::TACC3 Fusion +574 PDGFRA FIP1L1::PDGFRA Fusion +577 PDGFRA FIP1L1::PDGFRA T674I Fusion +2682 ABL1 FOXP1::ABL1 Fusion +667 MEN1 FRAMESHIFT TRUNCATION Functional Protein Consequence +722 DDIT3 FUS::DDIT3 Fusion +3149 RELA FUSION Fusion +428 MRE11 Frameshift Functional Protein Consequence +2812 MBD4 Frameshift Functional Protein Consequence +124 TSC1 Frameshift Truncation Functional Protein Consequence +419 NTRK1 Fusion Fusion +499 ALK Fusion Fusion +524 DUX4 Fusion Fusion +567 PDGFRA Fusion Fusion +568 PDGFRB Fusion Fusion +569 FGFR1 Fusion Fusion +1277 NTRK3 Fusion Fusion +1687 RET Fusion Fusion +1691 FGFR3 Fusion Fusion +2202 FGFR2 Fusion Fusion +2286 NRG1 Fusion Fusion +2566 ABL1 Fusion Fusion +2571 ABL2 Fusion Fusion +2572 JAK2 Fusion Fusion +2639 BRAF Fusion Fusion +2640 NTRK2 Fusion Fusion +2693 ROS1 Fusion Fusion +2779 STAT6 Fusion Fusion +2806 KMT2A Fusion Fusion +2830 ETV1 Fusion Fusion +3081 RAF1 Fusion Fusion +3315 TP53 Fusion Fusion +3957 RASGRF1 Fusion Fusion +3742 KIT G3BP2::KIT Fusion +817 ERBB2 G778_P780DUP Copy Number +3214 JAK2 GOLGA5::JAK2 Fusion +2395 NTRK1 GON4L::NTRK1 Fusion +2770 ROS1 GOPC::ROS1 Fusion +2061 ACVR1 Gain-of-Function Functional Gene Function +2172 MTOR Gain-of-Function Functional Gene Function +1765 EGFR Gain-of-function Functional Gene Function +2581 NCOA2 HEY1::NCOA2 Fusion +588 ALK HIP1::ALK I1171N Fusion +2969 HMGA2 HMGA2::LPP Fusion +3597 DDR2 High expression Expression +271 ATR I774FS Functional Protein Consequence +765 MSH6 I891FS Functional Protein Consequence +151 BCL2 IGH::BCL2 Fusion +2663 CRLF2 IGH::CRLF2 Fusion +4309 FGFR3 IGHA1::FGFR3 Fusion +2686 IL2RB IL2RB::MYH9 Fusion +218 SMARCA4 INACTIVATING MUTATION Functional Gene Function +2238 BARD1 ISOFORM EXPRESSION Expression +3118 FLT3 ITD & TKD MUTATIONS Functional Gene Function +2895 NUDT15 Inactivating Mutation Functional Gene Function +67 KIT Internal Duplication Copy Number +2659 FGFR1 Internal Duplication Copy Number +4150 BCOR Internal tandem duplication Copy Number +4229 BCOR Internal tandem duplication (ITD) Copy Number +279 NF2 K159fs Functional Protein Consequence +1872 VHL K159fs (c.473dup) Copy Number +3010 ABL1 K356dup Copy Number +3273 MSH3 K383fs Functional Protein Consequence +1166 ATM K468FS Functional Protein Consequence +3158 NTRK2 KANK1::NTRK2 Fusion +4001 ALK KANK4::ALK Fusion +618 BRAF KIAA1549::BRAF Fusion +4300 EGFR KIF5B::EGFR Fusion +2707 MET KIF5B::MET Fusion +273 RET KIF5B::RET Fusion +1689 RET KIF5B::RET G810A Fusion +1688 RET KIF5B::RET V804L Fusion +3552 KMT2A KMT2A::ABI1 Fusion +3551 KMT2A KMT2A::AF10 Fusion +3550 KMT2A KMT2A::AF6 Fusion +432 KMT2A KMT2A::MLLT3 Fusion +3117 KMT2A KMT2A::MLLT4 Fusion +2210 ASNS KMT2E::ASNS Fusion +3471 KRAS KRAS4A underexpression Expression +413 ERBB2 Kinase Domain Mutation Region Defined Variant +1783 VHL L158fs (c.471dupT) Copy Number +1318 TP53 L3 Domain Mutation Region Defined Variant +1278 NTRK1 LMNA::NTRK1 Fusion +1282 NTRK1 LMNA::NTRK1 G595R and G667C Fusion +3225 NTRK1 LMNA::NTRK1 e11-e10 Fusion +3223 NTRK1 LMNA::NTRK1 e2-e10 Fusion +3224 NTRK1 LMNA::NTRK1 e2-e11 Fusion +564 SMAD4 LOSS Functional Gene Function +809 MSH6 LOSS Functional Gene Function +3659 SMARCB1 LOSS OF NUCLEAR PROTEIN EXPRESSION Expression +2596 LZTR1 LOSS-OF-FUNCTION Functional Gene Function +2755 FUBP1 LOSS-OF-FUNCTION Functional Gene Function +2968 HMGA2 LPP::HMGA2 Fusion +3272 ABL1 LSM14A::ABL1 Fusion +23 CCND3 Loss Functional Gene Function +214 PTEN Loss Functional Gene Function +370 MRE11 Loss Functional Gene Function +436 VHL Loss Functional Gene Function +485 STK11 Loss Functional Gene Function +554 CDKN2A Loss Functional Gene Function +555 CDKN2B Loss Functional Gene Function +672 SOX10 Loss Functional Gene Function +697 NF2 Loss Functional Gene Function +698 NF1 Loss Functional Gene Function +808 MSH2 Loss Functional Gene Function +853 NBN Loss Functional Gene Function +925 STK11 Loss Functional Gene Function +1876 CIC Loss Functional Gene Function +1879 ATXN1L Loss Functional Gene Function +1880 ATM Loss Functional Gene Function +2212 BAP1 Loss Functional Gene Function +2230 ASS1 Loss Functional Gene Function +2232 FLCN Loss Functional Gene Function +2234 KMT2D Loss Functional Gene Function +2365 TF Loss Functional Gene Function +2644 SMARCA4 Loss Functional Gene Function +2754 PRKN Loss Functional Gene Function +3202 SMARCB1 Loss Functional Gene Function +4310 KDM6A Loss Functional Gene Function +125 TSC1 Loss-of-function Functional Gene Function +131 BRCA1 Loss-of-function Functional Gene Function +132 BRCA2 Loss-of-function Functional Gene Function +159 VHL Loss-of-function Functional Gene Function +167 KMT2D Loss-of-function Functional Gene Function +230 CHEK2 Loss-of-function Functional Gene Function +236 CDK12 Loss-of-function Functional Gene Function +534 FANCC Loss-of-function Functional Gene Function +601 NOTCH1 Loss-of-function Functional Gene Function +606 RB1 Loss-of-function Functional Gene Function +637 FBXW7 Loss-of-function Functional Gene Function +721 CYP2D6 Loss-of-function Functional Gene Function +819 PTPRB Loss-of-function Functional Gene Function +1293 ARID1A Loss-of-function Functional Gene Function +2171 TSC2 Loss-of-function Functional Gene Function +2219 BARD1 Loss-of-function Functional Gene Function +2235 RASA1 Loss-of-function Functional Gene Function +2236 ATM Loss-of-function Functional Gene Function +2415 SMAD4 Loss-of-function Functional Gene Function +2424 KMT2C Loss-of-function Functional Gene Function +2565 PTPN12 Loss-of-function Functional Gene Function +2705 PBRM1 Loss-of-function Functional Gene Function +3316 MEN1 Loss-of-function Functional Gene Function +4269 ATRX Loss-of-function Functional Gene Function +1889 VHL M54fs (c.161dup) Copy Number +2227 BRAF MACF1::BRAF Fusion +3988 MAP3K8 MAP3K8 fusion Fusion +3148 MEF2D MEF2D Rearrangement Rearrangements +30 CSF1R MEF2D::CSF1R Fusion +2894 MET MET::ATXN7L1 Fusion +538 MLH1 METHYLATION Epigenetic Modification +784 CDKN2B METHYLATION Epigenetic Modification +3114 MN1 MN1::CXXC5 Fusion +217 SMARCA4 MUTATION Region Defined Variant +521 U2AF1 MUTATION Region Defined Variant +595 SRSF2 MUTATION Region Defined Variant +623 POT1 MUTATION Region Defined Variant +644 PRDM1 MUTATION Region Defined Variant +659 NF2 MUTATION Region Defined Variant +664 CDH1 MUTATION Region Defined Variant +665 RHOA MUTATION Region Defined Variant +668 KMT2C MUTATION Region Defined Variant +669 STAG2 MUTATION Region Defined Variant +674 EIF1AX MUTATION Region Defined Variant +2169 BTK MUTATION Region Defined Variant +2170 PLCG2 MUTATION Region Defined Variant +2652 H3-3A MUTATION Region Defined Variant +2761 ZRSR2 MUTATION Region Defined Variant +2773 RABL3 MUTATION Region Defined Variant +3052 CD79B MUTATION Region Defined Variant +3073 CARD11 MUTATION Region Defined Variant +3138 NPM1 MUTATION Region Defined Variant +2665 MYB MYB::GATA1 Fusion +4327 MYB MYB::QKI Fusion +3586 MYC MYC AND (BCL2 OR BCL6) TRANSLOCATION Rearrangements +29 CEBPA Mutation Region Defined Variant +155 RUNX1 Mutation Region Defined Variant +157 TET2 Mutation Region Defined Variant +160 VHL Mutation Region Defined Variant +161 PBRM1 Mutation Region Defined Variant +163 EZH2 Mutation Region Defined Variant +174 APC Mutation Region Defined Variant +177 ASXL1 Mutation Region Defined Variant +178 ATM Mutation Region Defined Variant +183 BAP1 Mutation Region Defined Variant +185 BRCA1 Mutation Region Defined Variant +186 BRCA2 Mutation Region Defined Variant +189 DNMT3A Mutation Region Defined Variant +206 NOTCH1 Mutation Region Defined Variant +208 NRAS Mutation Region Defined Variant +215 SF3B1 Mutation Region Defined Variant +216 SMAD4 Mutation Region Defined Variant +222 TP53 Mutation Region Defined Variant +275 HRAS Mutation Region Defined Variant +277 MTOR Mutation Region Defined Variant +281 FBXW7 Mutation Region Defined Variant +297 RIT1 Mutation Region Defined Variant +300 SMO Mutation Region Defined Variant +301 PTCH1 Mutation Region Defined Variant +310 ERBB4 Mutation Region Defined Variant +311 PIK3CA Mutation Region Defined Variant +323 MET Mutation Region Defined Variant +327 PTPRD Mutation Region Defined Variant +336 KRAS Mutation Region Defined Variant +388 KIT Mutation Region Defined Variant +399 BRAF Mutation Region Defined Variant +442 EGFR Mutation Region Defined Variant +505 GNAQ Mutation Region Defined Variant +506 GNA11 Mutation Region Defined Variant +510 PTEN Mutation Region Defined Variant +511 FGFR2 Mutation Region Defined Variant +512 ALK Mutation Region Defined Variant +519 FLT3 Mutation Region Defined Variant +560 CSF3R Mutation Region Defined Variant +570 IDH2 Mutation Region Defined Variant +587 NF1 Mutation Region Defined Variant +600 AR Mutation Region Defined Variant +633 PIK3R1 Mutation Region Defined Variant +645 IDH1 Mutation Region Defined Variant +663 BCOR Mutation Region Defined Variant +666 ERBB2 Mutation Region Defined Variant +713 CRBN Mutation Region Defined Variant +715 STK11 Mutation Region Defined Variant +797 POLE Mutation Region Defined Variant +799 RB1 Mutation Region Defined Variant +827 FGFR3 Mutation Region Defined Variant +1690 RET Mutation Region Defined Variant +2231 FLCN Mutation Region Defined Variant +2233 BCL2 Mutation Region Defined Variant +2237 KDM5C Mutation Region Defined Variant +2388 CALR Mutation Region Defined Variant +2567 ETV6 Mutation Region Defined Variant +2641 FGFR1 Mutation Region Defined Variant +2642 PTPN11 Mutation Region Defined Variant +2668 FOXO3 Mutation Region Defined Variant +2692 B2M Mutation Region Defined Variant +2699 CBL Mutation Region Defined Variant +2704 CDKN2A Mutation Region Defined Variant +2749 NFE2L2 Mutation Region Defined Variant +2759 PALB2 Mutation Region Defined Variant +2760 MPL Mutation Region Defined Variant +2764 CDK12 Mutation Region Defined Variant +2898 NT5C2 Mutation Region Defined Variant +2958 SDHB Mutation Region Defined Variant +2983 ACVR1 Mutation Region Defined Variant +3072 GATA2 Mutation Region Defined Variant +3115 GATA1 Mutation Region Defined Variant +3203 ATRX Mutation Region Defined Variant +3274 PDGFRA Mutation Region Defined Variant +4018 MS4A1 Mutation Region Defined Variant +28 CEBPA N-TERMINAL FRAME SHIFT Functional Protein Consequence +513 ALK NPM::ALK Fusion +2883 BRAF NRF1::BRAF Fusion +2762 NRG1 NRG1 FUSIONS Fusion +340 DKK1 NUCLEAR EXPRESSION Expression +368 BIRC5 NUCLEAR EXPRESSION Expression +391 IGF1R NUCLEAR EXPRESSION Expression +438 PSMB8 NUCLEAR EXPRESSION Expression +439 PBK NUCLEAR EXPRESSION Expression +490 HSPH1 NUCLEAR EXPRESSION Expression +494 PIM1 NUCLEAR EXPRESSION Expression +364 ERBB4 NUCLEAR TRANSLOCATION Rearrangements +3271 ABL1 NUP153::ABL1 Fusion +2660 ABL1 NUP214::ABL1 Fusion +3111 NUP98 NUP98::KDM5A Fusion +2593 NUP98 NUP98::NSD1 Fusion +2376 ABL1 Non-P-Loop Mutation Region Defined Variant +2082 VHL Null (Partial deletion of Exon 1) Region Defined Variant +1951 VHL Null (Partial deletion of Exon 2) Region Defined Variant +1952 VHL Null (Partial deletion of Exon 3) Region Defined Variant +2083 VHL Null (Partial deletion of Exons 1 & 2) Region Defined Variant +2036 VHL Null (Partial deletion of Exons 2 & 3) Region Defined Variant +3296 VHL Null (rearrangement) Rearrangements +2974 JAK2 OFD1::JAK2 Fusion +21 CCND2 OVEREXPRESSION Expression +205 NCOA3 OVEREXPRESSION Expression +296 RIT1 OVEREXPRESSION Expression +305 SYK OVEREXPRESSION Expression +345 SPHK1 OVEREXPRESSION Expression +348 PBK OVEREXPRESSION Expression +359 AR OVEREXPRESSION Expression +378 PTP4A3 OVEREXPRESSION Expression +396 JAK1 OVEREXPRESSION Expression +434 HIF1A OVEREXPRESSION Expression +440 PTTG1 OVEREXPRESSION Expression +796 RRM2 OVEREXPRESSION Expression +1299 MERTK OVEREXPRESSION Expression +2362 PIK3CA OVEREXPRESSION Expression +2419 NR2F2 OVEREXPRESSION Expression +2586 PARP1 OVEREXPRESSION Expression +2917 LYN OVEREXPRESSION Expression +2981 WDR12 OVEREXPRESSION Expression +2982 PLK1 OVEREXPRESSION Expression +3112 PALB2 Oncogenic Mutations (loss of function alterations) Functional Gene Function +3113 ATM Oncogenic Mutations (loss of function alterations) Functional Gene Function +20 CCND1 Overexpression Expression +24 CCNE1 Overexpression Expression +152 BCL2 Overexpression Expression +156 IGF2 Overexpression Expression +181 AURKA Overexpression Expression +193 EGFR Overexpression Expression +289 ERBB3 Overexpression Expression +290 NT5E Overexpression Expression +291 EZH2 Overexpression Expression +292 MYD88 Overexpression Expression +325 FGFR3 Overexpression Expression +346 CASP8 Overexpression Expression +347 TYMS Overexpression Expression +377 TIMP1 Overexpression Expression +408 ABCC10 Overexpression Expression +435 EPAS1 Overexpression Expression +472 ALDH1A2 Overexpression Expression +481 DDX43 Overexpression Expression +483 TBK1 Overexpression Expression +486 HAVCR2 Overexpression Expression +525 B4GALT1 Overexpression Expression +529 SIRT1 Overexpression Expression +539 PTPN11 Overexpression Expression +547 RB1 Overexpression Expression +578 BIRC5 Overexpression Expression +597 RET Overexpression Expression +602 CDK6 Overexpression Expression +603 FLT3 Overexpression Expression +607 ESR1 Overexpression Expression +619 PTGS2 Overexpression Expression +621 MET Overexpression Expression +639 JUN Overexpression Expression +640 FOS Overexpression Expression +653 ETV4 Overexpression Expression +693 SGK1 Overexpression Expression +795 RRM1 Overexpression Expression +858 CSF1 Overexpression Expression +859 ROS1 Overexpression Expression +860 NTRK1 Overexpression Expression +866 MITF Overexpression Expression +869 YAP1 Overexpression Expression +875 ERBB2 Overexpression Expression +1256 TERT Overexpression Expression +1259 AEBP1 Overexpression Expression +1273 CTAG1B Overexpression Expression +1274 CTAG2 Overexpression Expression +1279 BRD4 Overexpression Expression +1301 AKT3 Overexpression Expression +1303 MYC Overexpression Expression +1306 TP53 Overexpression Expression +1693 CHEK1 Overexpression Expression +1877 ETV1 Overexpression Expression +1878 ETV5 Overexpression Expression +2167 FGFR4 Overexpression Expression +2204 KDR Overexpression Expression +2239 TPT1 Overexpression Expression +2360 AKT1 Overexpression Expression +2363 PIK3R2 Overexpression Expression +2410 ERCC1 Overexpression Expression +2417 FGFR2 Overexpression Expression +2578 NOTCH3 Overexpression Expression +2584 CDK9 Overexpression Expression +2585 VEGFA Overexpression Expression +2588 EPOR Overexpression Expression +2635 ALK Overexpression Expression +2636 CDK4 Overexpression Expression +2679 WEE1 Overexpression Expression +2717 PSMD4 Overexpression Expression +2739 CRLF2 Overexpression Expression +2784 FGF19 Overexpression Expression +2808 WNT11 Overexpression Expression +2904 FGFR1 Overexpression Expression +2908 TACSTD2 Overexpression Expression +2911 IL6 Overexpression Expression +2915 ABCB1 Overexpression Expression +2944 PDGFRA Overexpression Expression +2955 STAT1 Overexpression Expression +2970 VEGFC Overexpression Expression +2973 PDGFRB Overexpression Expression +2978 MIR21 Overexpression Expression +2980 IL33 Overexpression Expression +2985 CCN2 Overexpression Expression +3006 FOXC2 Overexpression Expression +3007 ZEB1 Overexpression Expression +3008 CUL7 Overexpression Expression +3139 MECOM Overexpression Expression +3243 ACTL6A Overexpression Expression +3249 MYCN Overexpression Expression +3259 IGF1R Overexpression Expression +3277 ZHX2 Overexpression Expression +3279 HDAC2 Overexpression Expression +3306 HDAC9 Overexpression Expression +3307 FOXF1 Overexpression Expression +3568 JAK2 Overexpression Expression +3569 STAT5B Overexpression Expression +3598 DDR2 Overexpression Expression +3599 HDAC6 Overexpression Expression +3646 HOXC10 Overexpression Expression +3728 SLC29A1 Overexpression Expression +3731 KIT Overexpression Expression +3732 HSP90B1 Overexpression Expression +3733 KRAS Overexpression Expression +3734 COX2 Overexpression Expression +3735 BRAF Overexpression Expression +3746 CCNE2 Overexpression Expression +4237 AURKB Overexpression Expression +4297 FGFR1 Overexpression Expression +3415 AR Overexpression of AR-V9 Expression +3324 VEGFA Overexpression of VEGF121 Expression +3325 VEGFA Overexpression of VEGF121 and VEGF110 Expression +2375 ABL1 P-Loop Mutation Region Defined Variant +2495 VHL P138fs (c.410dup) Copy Number +207 NOTCH1 P2514FS Functional Protein Consequence +2350 CRLF2 P2RY8::CRLF2 Fusion +756 MLH1 P536FS Functional Protein Consequence +4224 AKT1 P68-C77dup Copy Number +477 BRCA1 P968FS Functional Protein Consequence +3525 ABL2 PAG1::ABL2 Fusion +286 BRAF PAPSS1::BRAF Fusion +2582 FOXO1 PAX3::FOXO1 Fusion +2861 JAK2 PAX5::JAK2 Fusion +2583 FOXO1 PAX7::FOXO1 Fusion +209 PAX8 PAX8::PPARG Fusion +571 JAK2 PCM1::JAK2 Fusion +2289 NTRK1 PDE4DIP::NTRK1 Fusion +387 EIF4EBP1 PHOSPHORYLATION Epigenetic Modification +395 RPS6 PHOSPHORYLATION Epigenetic Modification +632 RB1 PHOSPHORYLATION Epigenetic Modification +108 PML PML::RARA Fusion +3025 PML PML::RARA A216T Fusion +462 PML PML::RARA A216V Fusion +463 PML PML::RARA L218P Fusion +3024 PML PML::RARA S214L Fusion +2848 JAK2 PPFIBP1::JAK2 Fusion +617 BRAF PPFIBP2::BRAF Fusion +22 CCND2 PROMOTER DEMETHYLATION Epigenetic Modification +2254 DBI PROMOTER DEMETHYLATION Epigenetic Modification +711 KLLN PROMOTER METHYLATION Epigenetic Modification +2683 PTK2B PTK2B::KDM6A Fusion +2684 PTK2B PTK2B::STAG2 Fusion +27 CDKN2A Promoter Hypermethylation Epigenetic Modification +333 PTPRT Promoter Hypermethylation Epigenetic Modification +374 NAPRT Promoter Hypermethylation Epigenetic Modification +85 MGMT Promoter Methylation Epigenetic Modification +744 MLH1 Q426FS Functional Protein Consequence +1105 KRAS Q61FS Functional Protein Consequence +3029 BCL2 R107_R110dup Copy Number +2021 VHL R108dup (c.322_324dup) Copy Number +735 MLH1 R687FS Functional Protein Consequence +1165 ATM R777FS Functional Protein Consequence +3268 ABL1 RANBP2::ABL1 Fusion +514 ALK RANBP2::ALK Fusion +3116 RBM15 RBM15::MKL1 Fusion +3207 MET RBPMS::MET Fusion +2681 ABL1 RCSD1::ABL1 Fusion +2891 RCSD1 RCSD1::ABL1 Fusion +3526 ABL2 RCSD1::ABL2 Fusion +3527 CSF1R RCSD1::ABL2 Fusion +2865 JAK2 RFX3::JAK2 Fusion +740 DPYD RS67376798 HOMOZYGOSITY Genotypes Compound +3126 RUNX1 RUNX1::RUNX1T1 Fusion +1863 EGFR Rare Exon 18-21 Mutation Region Defined Variant +269 ROS1 Rearrangement Rearrangements +2439 VHL Rearrangement Rearrangements +3141 KMT2A Rearrangement Rearrangements +4003 PDGFB Rearrangement Rearrangements +4338 CRLF2 Rearrangement Rearrangements +3080 VHL S139fs Functional Protein Consequence +616 B2M S14FS Functional Protein Consequence +138 NOTCH1 S2275FS Functional Protein Consequence +3257 AKT1 S473 Phosphorylation Epigenetic Modification +1511 EGFR S768_D770dup Copy Number +4253 NTRK1 SCP2::NTRK1 Fusion +2179 NRG1 SDC4::NRG1 Fusion +4251 EGFR SEC61G::EGFR Fusion +416 ERBB2 SERUM LEVELS Expression +487 MMP2 SERUM LEVELS Expression +488 MMP9 SERUM LEVELS Expression +3287 ABL1 SFPQ::ABL1 Fusion +411 STAT3 SH2 DOMAIN MUTATION Region Defined Variant +3986 SH3PXD2A SH3PXD2A::HTRA1 Fusion +2166 NRG1 SLC3A2::NRG1 Fusion +2975 JAK2 SMU1::JAK2 Fusion +2976 JAK2 SNX29::JAK2 Fusion +2678 ABL1 SNX2::ABL1 Fusion +800 NTRK1 SQSTM1::NTRK1 Fusion +448 SSX1 SS18::SSX1 Fusion +449 SSX2 SS18::SSX2 Fusion +450 SSX4 SS18::SSX4 Fusion +3566 CSF1R SSBP2::CSF1R Fusion +2661 JAK2 SSBP2::JAK2 Fusion +2849 JAK2 STRN3::JAK2 Fusion +2218 ALK STRN::ALK Fusion +2287 NTRK2 STRN::NTRK2 Fusion +385 PRKAA2 T172 PHOSPHORYLATION Epigenetic Modification +1298 BRAF T599dup Copy Number +3517 ZNF384 TAF15::ZNF384 Fusion +3359 CSF1R TBL1XR1::CSF1R Fusion +2862 JAK2 TERF2::JAK2 Fusion +3730 TFE3 TFE3 fusion Fusion +576 ROS1 TFG::ROS1 Fusion +56 FLT3 TKD MUTATION Functional Gene Function +2371 ABL1 TKD MUTATION Functional Gene Function +3128 TLX3 TLX3::BCL11B Fusion +195 ERG TMPRSS2::ERG Fusion +707 TMPRSS2 TMPRSS2::ERG Fusion +774 PDGFRA TNKS2::PDGFRA Fusion +2992 NTRK1 TPM3::NTRK1 Fusion +2850 JAK2 TPR::JAK2 Fusion +3465 NTRK1 TPR::NTRK1 Fusion +287 BRAF TRIM24::BRAF Fusion +2393 NTRK1 TRIM63::NTRK1 Fusion +739 FOS TRUNCATING FUSION Fusion +4026 FGFR2 Translocation Rearrangements +4027 FGFR3 Translocation Rearrangements +417 THBS2 UNDEREXPRESSION Expression +441 LEPR UNDEREXPRESSION Expression +446 KRT18 UNDEREXPRESSION Expression +498 MIR218-1 UNDEREXPRESSION Expression +2418 SPRY2 UNDEREXPRESSION Expression +2863 JAK2 USP25::JAK2 Fusion +179 ATM Underexpression Expression +282 SMAD4 Underexpression Expression +304 STK11 Underexpression Expression +349 SMARCA4 Underexpression Expression +382 TYMS Underexpression Expression +403 BRCA1 Underexpression Expression +422 STAG2 Underexpression Expression +473 ALDH1A2 Underexpression Expression +475 CIP2A Underexpression Expression +648 ATRX Underexpression Expression +654 STAG3 Underexpression Expression +695 SMARCB1 Underexpression Expression +867 MTAP Underexpression Expression +868 VPS37A Underexpression Expression +1255 MGMT Underexpression Expression +1257 RRM1 Underexpression Expression +2108 ARID1A Underexpression Expression +2164 CX3CL1 Underexpression Expression +2384 PBLD Underexpression Expression +2386 ERRFI1 Underexpression Expression +2392 PTPN6 Underexpression Expression +2409 ERCC1 Underexpression Expression +2412 FGFR2 Underexpression Expression +3459 AR V1 expression Expression +1167 ATM V1268FS Functional Protein Consequence +750 MLH1 V213FS Functional Protein Consequence +137 NOTCH1 V2444FS Functional Protein Consequence +762 MSH2 V273FS Functional Protein Consequence +605 PTEN V317FS Functional Protein Consequence +3461 AR V567es expression Expression +362 AR V7 EXPRESSION Expression +2159 AR V9 EXPRESSION Expression +3729 TFE3 VCF::TFE3 Fusion +3701 NTRK2 VCL::NTRK2 Fusion +3303 CHD7 VCV000625197, Translocation (t(8;X)(q12.2;p22.13)), CHD7–BEND2 fusion Other +3321 VEGFA VEGF165b Overexpression Expression +4242 EGFR VOPP1::EGFR Fusion +2027 VHL W117fs (c.349dup) Copy Number +87 NPM1 W288FS Functional Protein Consequence +2299 VHL W88fs (c.261dup) Copy Number +2228 BRAF WASFL::BRAF Fusion +426 BRAF WILD TYPE Genotypes Easy +2366 PTEN WILD TYPE Genotypes Easy +2651 KIT WILDTYPE Genotypes Easy +742 WWTR1 WWTR1::CAMTA1 Fusion +369 TP53 Wildtype Genotypes Easy +2174 EGFR Wildtype Genotypes Easy +2590 PIK3CA Wildtype Genotypes Easy +3200 KRAS Wildtype Genotypes Easy +390 EGFR Y1092 PHOSPHORYLATION Epigenetic Modification +245 NF2 Y177fs Functional Protein Consequence +414 ERBB2 Y772_A775DUP Copy Number +3578 ABL2 ZC3HAV1::ABL2 Fusion +657 BRAF ZKSCAN1::BRAF Fusion +3269 ABL1 ZMIZ1::ABL1 Fusion +466 FGFR1 ZNF198::FGFR1 Fusion +2864 JAK2 ZNF274::JAK2 Fusion +2977 JAK2 ZNF430::JAK2 Fusion +3481 ESR2 alternative transcripts Other +2349 IL7R exon 6 mutations Region Defined Variant +3752 SSTR5 expression Expression +2226 BRAF intron 10 rearrangement Rearrangements +2225 BRAF intron 9 rearrangement Rearrangements +2814 DRD5 low expression Expression +2845 HOXD8 mutation Region Defined Variant +3322 VEGFA overexpression of VEGF-Axxxa Expression +2411 SDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC) Copy Number +272 CDKN2A p16 Expression Expression +3478 ESR2 underexpression beta-1 Expression +2748 ETV6 ~DEPRECATED-ETV6::NTRK3 FUSION Fusion +2718 CCNE1 ｍRNA expression low Expression diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv new file mode 100644 index 00000000..8f46a9f6 --- /dev/null +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -0,0 +1,267 @@ +variant_id query query_type exception_raised message warnings +748 MLH1 *757L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4188 VHL 10kb Deletion protein False unable to normalize ['Unable to tokenize 10kb', 'Unable to tokenize Deletion'] +785 CHEK2 1100DELC protein False unable to normalize ['Unable to tokenize 1100DELC'] +2438 VHL 235 (CAG-TAG) protein False unable to normalize ['Unable to tokenize 235', 'Unable to tokenize (CAG-TAG)'] +4186 VHL 2kb Deletion protein False unable to normalize ['Unable to tokenize 2kb', 'Unable to tokenize Deletion'] +253 EGFR 3' UTR MUTATION protein False unable to normalize "[""Unable to tokenize 3'"", 'Unable to tokenize MUTATION']" +2367 VHL 3p26.3-25.3 11Mb del protein False unable to normalize ['Unable to tokenize 3p26.3-25.3', 'Unable to tokenize 11Mb', 'Unable to tokenize del'] +2390 MAP2K1 56_61QKQKVG>R protein False unable to normalize ['Unable to tokenize 56_61QKQKVG>R'] +4187 VHL 5kb Deletion protein False unable to normalize ['Unable to tokenize 5kb', 'Unable to tokenize Deletion'] +2727 ERBB2 A129 protein False unable to normalize ['Unable to tokenize A129'] +2729 TP53 A129 protein False unable to normalize ['Unable to tokenize A129'] +2979 KRAS A146 protein False unable to normalize ['Unable to tokenize A146'] +3718 AR A748V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3725 AR A765T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1307 TP53 ALTERATION protein False unable to normalize ['Unable to tokenize ALTERATION'] +842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +309 EGFR AUTOCRINE ACTIVATION protein False unable to normalize ['Unable to tokenize AUTOCRINE', 'Unable to tokenize ACTIVATION'] +3510 BCL2L11 Alternative splicing protein False unable to normalize ['Unable to tokenize Alternative', 'Unable to tokenize splicing'] +2844 MITF Amplificatioin protein False unable to normalize ['Unable to tokenize Amplificatioin'] +2391 MAP2K1 C121S and G128D protein False unable to normalize ['Unable to tokenize and'] +248 TERT C228T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4004 TERT C250T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3385 CD44 CD44s protein False unable to normalize ['Unable to tokenize CD44s'] +3386 CD44 CD44v5 and CD44v6 protein False unable to normalize ['Unable to tokenize CD44v5', 'Unable to tokenize and', 'Unable to tokenize CD44v6'] +3373 CD44 CD44v6 protein False unable to normalize ['Unable to tokenize CD44v6'] +3388 CD44 CD44v6 and CD44v10 protein False unable to normalize ['Unable to tokenize CD44v6', 'Unable to tokenize and', 'Unable to tokenize CD44v10'] +3387 CD44 CD44v6+/CD44s- protein False unable to normalize ['Unable to tokenize CD44v6+/CD44s-'] +3369 CD44 CD44v8-10 protein False unable to normalize ['Unable to tokenize CD44v8-10'] +3368 CD44 CD44v9 protein False unable to normalize ['Unable to tokenize CD44v9'] +3367 CD44 CD4v8-v10 and CD44v3-v10 protein False unable to normalize ['Unable to tokenize CD4v8-v10', 'Unable to tokenize and', 'Unable to tokenize CD44v3-v10'] +3474 CEACAM1 CEACAM1-L protein False unable to normalize ['Unable to tokenize CEACAM1-L'] +3475 CEACAM1 CEACAM1-S protein False unable to normalize ['Unable to tokenize CEACAM1-S'] +1300 TP53 CONSERVED DOMAIN MUT protein False unable to normalize ['Unable to tokenize CONSERVED', 'Unable to tokenize DOMAIN'] +3408 TEK Cis double mutants protein False unable to normalize ['Unable to tokenize double', 'Unable to tokenize mutants'] +2800 BRAF Class 2 Mutations protein False unable to normalize ['Unable to tokenize Class', 'Unable to tokenize 2', 'Unable to tokenize Mutations'] +2801 BRAF Class 3 Mutations protein False unable to normalize ['Unable to tokenize Class', 'Unable to tokenize 3', 'Unable to tokenize Mutations'] +2734 TP53 D184 protein False unable to normalize ['Unable to tokenize D184'] +3706 AR D221H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3713 AR D528G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2767 BRAF D594 protein False unable to normalize ['Unable to tokenize D594'] +2833 NECTIN4 D594H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +437 FLT3 D835 protein False unable to normalize ['Unable to tokenize D835'] +3231 FLT3 D835 & I836 protein False unable to normalize ['Unable to tokenize D835', 'Unable to tokenize &', 'Unable to tokenize I836'] +613 FLT3 D835H/Y protein False unable to normalize ['Unable to tokenize D835H/Y'] +943 PDGFRA D842_H845DELDIMH protein False unable to normalize ['Unable to tokenize D842_H845DELDIMH'] +522 BRAF DEL 485-490 protein False unable to normalize ['Unable to tokenize DEL', 'Unable to tokenize 485-490'] +954 KIT DEL 554-558 protein False unable to normalize ['Unable to tokenize DEL', 'Unable to tokenize 554-558'] +3023 PML DELETION (p.K227_T233del) protein False unable to normalize ['Unable to tokenize DELETION', 'Unable to tokenize (p.K227_T233del)'] +1663 BRAF DELNVTAP protein False unable to normalize ['Unable to tokenize DELNVTAP'] +3509 AIMP2 DX2 protein False unable to normalize ['Unable to tokenize DX2'] +2414 MAP2K1 E102_I103delEI protein False unable to normalize ['Unable to tokenize E102_I103delEI'] +2994 MAEA E151INT protein False unable to normalize ['Unable to tokenize E151INT'] +2591 DICER1 E1813 mutations protein False unable to normalize ['Unable to tokenize E1813', 'Unable to tokenize mutations'] +3707 AR E198G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +572 MTOR E2014K and E2419K protein False unable to normalize ['Unable to tokenize and'] +2730 TP53 E204 protein False unable to normalize ['Unable to tokenize E204'] +2763 PIK3CA E545 protein False unable to normalize ['Unable to tokenize E545'] +3328 FLT3 E573Δ protein False unable to normalize ['Unable to tokenize E573Δ'] +1544 FLT3 E611_F612INS25 protein False unable to normalize ['Unable to tokenize E611_F612INS25'] +2258 EGFR E709A and G719C protein False unable to normalize ['Unable to tokenize and'] +2256 EGFR E709K and G719A protein False unable to normalize ['Unable to tokenize and'] +1577 EGFR E709_T710>D protein False unable to normalize ['Unable to tokenize E709_T710>D'] +1635 EGFR E746_A750>IP protein False unable to normalize ['Unable to tokenize E746_A750>IP'] +1433 EGFR E746_S752>A protein False unable to normalize ['Unable to tokenize E746_S752>A'] +1003 EGFR E746_T751>I protein False unable to normalize ['Unable to tokenize E746_T751>I'] +3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +4005 EWSR1 EWSR1-ERG protein False unable to normalize ['Unable to tokenize EWSR1-ERG'] +1854 EGFR Ex19 del L858R protein False unable to normalize ['Unable to tokenize Ex19', 'Unable to tokenize del'] +457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3450 BRAF F594L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +76 KRAS G12 protein False unable to normalize ['Unable to tokenize G12'] +92 NRAS G12 protein False unable to normalize ['Unable to tokenize G12'] +77 KRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] +596 NRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] +80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +3793 TP53 G177E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3152 GNA11 G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3153 GNAQ G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2721 TP53 G245 protein False unable to normalize ['Unable to tokenize G245'] +2724 TP53 G266 protein False unable to normalize ['Unable to tokenize G266'] +3587 H3-3A G34 protein False unable to normalize ['Unable to tokenize G34'] +3443 BRAF G465A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3441 BRAF G468A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2822 BRAF G469 protein False unable to normalize ['Unable to tokenize G469'] +3469 NTRK1 G595R and G667S protein False unable to normalize ['Unable to tokenize and'] +2768 BRAF G596 protein False unable to normalize ['Unable to tokenize G596'] +730 MLH1 G606FS*2 protein False unable to normalize ['Unable to tokenize G606FS*2'] +718 EGFR G719 protein False unable to normalize ['Unable to tokenize G719'] +1557 ERBB2 G776INSV_G/C protein False unable to normalize ['Unable to tokenize G776INSV_G/C'] +4298 FGFR3 G802_X807del protein False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" +3033 RET G810 protein False unable to normalize ['Unable to tokenize G810'] +4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 protein False unable to normalize ['Unable to tokenize GRCh37/hg19', 'Unable to tokenize 11q14.3(chr11:88960991-88961138)x160'] +3305 TNFRSF17 Gain protein False unable to normalize ['Unable to tokenize Gain'] +3766 PIK3CA H1047L or H1047R protein False unable to normalize ['Unable to tokenize or'] +527 ALK I1171 protein False unable to normalize ['Unable to tokenize I1171'] +3448 BRAF I462S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3232 FLT3 I836 protein False unable to normalize ['Unable to tokenize I836'] +2744 IKZF1 IKZF1 deletion and mutation protein False unable to normalize ['Unable to tokenize deletion', 'Unable to tokenize and', 'Unable to tokenize mutation'] +55 FLT3 ITD protein False unable to normalize ['Unable to tokenize ITD'] +3220 FLT3 ITD N676D protein False unable to normalize ['Unable to tokenize ITD'] +3209 FLT3 ITD & D835(V/Y/F/H) protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &', 'Unable to tokenize D835(V/Y/F/H)'] +3211 FLT3 ITD & D839G protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] +3284 FLT3 ITD & L601F protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] +3636 FLT3 ITD & N841K protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] +3283 FLT3 ITD & Y597F protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] +3210 FLT3 ITD & Y842C protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] +3219 FLT3 ITD D651G protein False unable to normalize ['Unable to tokenize ITD'] +3221 FLT3 ITD I687F protein False unable to normalize ['Unable to tokenize ITD'] +2785 FLT3 ITD N676K protein False unable to normalize ['Unable to tokenize ITD'] +3218 FLT3 ITD and co-mutations protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize and', 'Unable to tokenize co-mutations'] +3208 FLT3 ITD&F691(I/L) protein False unable to normalize ['Unable to tokenize ITD&F691(I/L)'] +788 CHEK2 IVS2+1G>A protein False unable to normalize ['Unable to tokenize IVS2+1G>A'] +2674 RB1 IVS20, A-G, -2 protein False unable to normalize ['Unable to tokenize IVS20,', 'Unable to tokenize A-G,', 'Unable to tokenize -2'] +257 EZH2 Intron 6 Mutation protein False unable to normalize ['Unable to tokenize Intron', 'Unable to tokenize 6', 'Unable to tokenize Mutation'] +2722 TP53 K132 protein False unable to normalize ['Unable to tokenize K132'] +2988 PCNA K164R LOSS-OF-MODIFICATION protein False unable to normalize ['Unable to tokenize LOSS-OF-MODIFICATION'] +3476 H3-3A K27 protein False unable to normalize ['Unable to tokenize K27'] +2815 H3C2 K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3939 H3-3A K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3944 H3C14 K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3594 H3-3A K27R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2420 H3-3B K36M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4177 PDGFRA K385 protein False unable to normalize ['Unable to tokenize K385'] +2696 KIT K550_K559DEL protein False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" +1549 KIT K558NP protein False unable to normalize ['Unable to tokenize K558NP'] +3455 BRAF K600E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2765 BRAF K601 protein False unable to normalize ['Unable to tokenize K601'] +508 PMS2 K706FS*19 protein False unable to normalize ['Unable to tokenize K706FS*19'] +3714 AR K720E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1638 EGFR K745_E749delKELRE protein False unable to normalize ['Unable to tokenize K745_E749delKELRE'] +2964 RUNX1 K90fsX101 protein False unable to normalize ['Unable to tokenize K90fsX101'] +3472 KRAS KRAS4A protein False unable to normalize ['Unable to tokenize KRAS4A'] +2731 TP53 L114 protein False unable to normalize ['Unable to tokenize L114'] +4114 TP53 L139N protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2735 TP53 L206 protein False unable to normalize ['Unable to tokenize L206'] +424 MYD88 L265P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1677 FBXW7 L403FS*34 protein False unable to normalize ['Unable to tokenize L403FS*34'] +541 PALB2 L531FS*30 protein False unable to normalize ['Unable to tokenize L531FS*30'] +1540 PDGFRA L579M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2766 BRAF L597 protein False unable to normalize ['Unable to tokenize L597'] +1309 ERBB2 L638S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2997 EGFR L718V and L718Q protein False unable to normalize ['Unable to tokenize and'] +3717 AR L744F protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1006 EGFR L747_A750>P protein False unable to normalize ['Unable to tokenize L747_A750>P'] +1011 EGFR L747_P753>Q protein False unable to normalize ['Unable to tokenize L747_P753>Q'] +1007 EGFR L747_T751delLREAT protein False unable to normalize ['Unable to tokenize L747_T751delLREAT'] +4221 AKT2 L78_Q79ins protein False unable to normalize ['Unable to tokenize L78_Q79ins'] +1866 EGFR L861 protein False unable to normalize ['Unable to tokenize L861'] +3483 LGR5 LGR5FL protein False unable to normalize ['Unable to tokenize LGR5FL'] +302 PTCH1 LOH protein False unable to normalize ['Unable to tokenize LOH'] +1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +638 RB1 M695FS*26 protein False unable to normalize ['Unable to tokenize M695FS*26'] +3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3127 WT1 Mutations protein False unable to normalize ['Unable to tokenize Mutations'] +3719 AR N756D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1581 EGFR N771>GY protein False unable to normalize ['Unable to tokenize N771>GY'] +1320 ERBB2 NON-AMPLIFICATION protein False unable to normalize ['Unable to tokenize NON-AMPLIFICATION'] +3740 NTRK1 NTRK1 amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" +2408 BRAF Non-V600 protein False unable to normalize ['Unable to tokenize Non-V600'] +3297 VHL Null (11 kb 3' deletion) protein False unable to normalize "['Unable to tokenize (11', 'Unable to tokenize kb', ""Unable to tokenize 3'"", 'Unable to tokenize deletion)']" +2016 VHL Null (Complete deletion) protein False unable to normalize ['Unable to tokenize (Complete', 'Unable to tokenize deletion)'] +2182 VHL Null (Large deletion) protein False unable to normalize ['Unable to tokenize (Large', 'Unable to tokenize deletion)'] +1947 VHL Null (Partial deletion of 4.6 Kb) protein False unable to normalize ['Unable to tokenize (Partial', 'Unable to tokenize deletion', 'Unable to tokenize 4.6', 'Unable to tokenize Kb)'] +2103 VHL Null (Partial deletion) protein False unable to normalize ['Unable to tokenize (Partial', 'Unable to tokenize deletion)'] +3361 VHL Null (del one VHL allele) protein False unable to normalize ['Unable to tokenize (del', 'Unable to tokenize one', 'Unable to tokenize allele)'] +3180 VHL Null (deletion) protein False unable to normalize ['Unable to tokenize (deletion)'] +3188 VHL Null (large 3' deletion) protein False unable to normalize "['Unable to tokenize (large', ""Unable to tokenize 3'"", 'Unable to tokenize deletion)']" +3262 VHL Null (point mutation codon 238) protein False unable to normalize ['Unable to tokenize (point', 'Unable to tokenize mutation', 'Unable to tokenize codon', 'Unable to tokenize 238)'] +1682 ARID1A P1175FS*5 protein False unable to normalize ['Unable to tokenize P1175FS*5'] +2732 TP53 P153 protein False unable to normalize ['Unable to tokenize P153'] +2726 TP53 P278 protein False unable to normalize ['Unable to tokenize P278'] +3711 AR P340L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3712 AR P504L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1497 KIT P551_E554delPMYE protein False unable to normalize ['Unable to tokenize P551_E554delPMYE'] +41 ERBB2 P780INS protein False unable to normalize ['Unable to tokenize P780INS'] +3235 PRKAR1A PRKAR1A LOH, allelic imbalance 17q protein False unable to normalize ['Unable to tokenize LOH,', 'Unable to tokenize allelic', 'Unable to tokenize imbalance', 'Unable to tokenize 17q'] +2916 PRPS1 PRPS1 MUTATION protein False unable to normalize ['Unable to tokenize MUTATION'] +2184 VHL Partial deletion of 0.7 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 0.7', 'Unable to tokenize Kb'] +4200 VHL Partial deletion of 0.8 kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 0.8', 'Unable to tokenize kb'] +2185 VHL Partial deletion of 1 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 1', 'Unable to tokenize Kb'] +2186 VHL Partial deletion of 1.2 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 1.2', 'Unable to tokenize Kb'] +2187 VHL Partial deletion of 1.5 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 1.5', 'Unable to tokenize Kb'] +3999 VHL Partial deletion of 10 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 10', 'Unable to tokenize Kb'] +2188 VHL Partial deletion of 11 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 11', 'Unable to tokenize Kb'] +2189 VHL Partial deletion of 12 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 12', 'Unable to tokenize Kb'] +3095 VHL Partial deletion of 2 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 2', 'Unable to tokenize Kb'] +2191 VHL Partial deletion of 3 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 3', 'Unable to tokenize Kb'] +2190 VHL Partial deletion of 3.5 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 3.5', 'Unable to tokenize Kb'] +2492 VHL Partial deletion of 4 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 4', 'Unable to tokenize Kb'] +2193 VHL Partial deletion of 7 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 7', 'Unable to tokenize Kb'] +2192 VHL Partial deletion of 7.5 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 7.5', 'Unable to tokenize Kb'] +2194 VHL Partial deletion of 8.2 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 8.2', 'Unable to tokenize Kb'] +3466 NTRK1 Point Mutations protein False unable to normalize ['Unable to tokenize Point', 'Unable to tokenize Mutations'] +3467 NTRK3 Point Mutations protein False unable to normalize ['Unable to tokenize Point', 'Unable to tokenize Mutations'] +220 TERT Promoter Mutation protein False unable to normalize ['Unable to tokenize Promoter', 'Unable to tokenize Mutation'] +127 U2AF1 Q157P/R protein False unable to normalize ['Unable to tokenize Q157P/R'] +507 GNAQ Q209 protein False unable to normalize ['Unable to tokenize Q209'] +558 GNA11 Q209 protein False unable to normalize ['Unable to tokenize Q209'] +1643 SCN8A Q225X protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2700 CBL Q294E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3326 FLT3 Q575Δ protein False unable to normalize ['Unable to tokenize Q575Δ'] +94 NRAS Q61 protein False unable to normalize ['Unable to tokenize Q61'] +203 KRAS Q61 protein False unable to normalize ['Unable to tokenize Q61'] +2570 HRAS Q61 protein False unable to normalize ['Unable to tokenize Q61'] +3726 AR Q798E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4000 RAF1 QKI-RAF1 protein False unable to normalize ['Unable to tokenize QKI-RAF1'] +58 IDH1 R132 protein False unable to normalize ['Unable to tokenize R132'] +804 RUNX1 R135FSX177 protein False unable to normalize ['Unable to tokenize R135FSX177'] +62 IDH2 R140 protein False unable to normalize ['Unable to tokenize R140'] +199 IDH2 R172 protein False unable to normalize ['Unable to tokenize R172'] +876 GNAS R201 protein False unable to normalize ['Unable to tokenize R201'] +2723 TP53 R248 protein False unable to normalize ['Unable to tokenize R248'] +3069 NTRK3 R248C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +119 TP53 R249 protein False unable to normalize ['Unable to tokenize R249'] +2725 TP53 R273 protein False unable to normalize ['Unable to tokenize R273'] +2597 DICER1 R392fs and E1813D protein False unable to normalize ['Unable to tokenize R392fs', 'Unable to tokenize and'] +3447 BRAF R461I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3716 AR R726L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3411 TEK R849W and R1108* protein False unable to normalize ['Unable to tokenize and'] +32 DNMT3A R882 protein False unable to normalize ['Unable to tokenize R882'] +332 FNTB RS11623866 protein False unable to normalize ['Unable to tokenize RS11623866'] +338 MGMT RS16906252 protein False unable to normalize ['Unable to tokenize RS16906252'] +643 CBLB RS2305035 protein False unable to normalize ['Unable to tokenize RS2305035'] +421 TERT RS2736100 protein False unable to normalize ['Unable to tokenize RS2736100'] +699 SH2B3 RS3184504 protein False unable to normalize ['Unable to tokenize RS3184504'] +779 TYMS RS34743033 protein False unable to normalize ['Unable to tokenize RS34743033'] +642 MDM2 RS34886328 protein False unable to normalize ['Unable to tokenize RS34886328'] +482 KIT RS3733542 protein False unable to normalize ['Unable to tokenize RS3733542'] +641 CDKN2A RS3814960 protein False unable to normalize ['Unable to tokenize RS3814960'] +331 WEE1 RS3910384 protein False unable to normalize ['Unable to tokenize RS3910384'] +777 SLCO1B1 RS4149056 protein False unable to normalize ['Unable to tokenize RS4149056'] +445 ETS2 RS461155 protein False unable to normalize ['Unable to tokenize RS461155'] +548 PPP1R15A RS557806 protein False unable to normalize ['Unable to tokenize RS557806'] +254 KRAS RS61764370 protein False unable to normalize ['Unable to tokenize RS61764370'] +255 ERCC5 RS751402 protein False unable to normalize ['Unable to tokenize RS751402'] +2334 EGFR Rare Mutation protein False unable to normalize ['Unable to tokenize Rare', 'Unable to tokenize Mutation'] +3222 PIK3CA Rare Mutation protein False unable to normalize ['Unable to tokenize Rare', 'Unable to tokenize Mutation'] +2856 ROS1 S1986Y/F protein False unable to normalize ['Unable to tokenize S1986Y/F'] +3674 NOTCH1 S2514A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3676 NOTCH1 S2514E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3677 NOTCH1 S2514P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3709 AR S296R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +497 ERBB2 S310F/Y protein False unable to normalize ['Unable to tokenize S310F/Y'] +128 U2AF1 S34Y/F protein False unable to normalize ['Unable to tokenize S34Y/F'] +3329 FLT3 S574Δ protein False unable to normalize ['Unable to tokenize S574Δ'] +1676 FBXW7 S668FS*39 protein False unable to normalize ['Unable to tokenize S668FS*39'] +720 EGFR S720 protein False unable to normalize ['Unable to tokenize S720'] +891 EGFR S752_I759delSPKANKEI protein False unable to normalize ['Unable to tokenize S752_I759delSPKANKEI'] +3723 AR S759P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +451 ABCB1 S893A/T protein False unable to normalize ['Unable to tokenize S893A/T'] +536 SULT1E1 SNP protein False unable to normalize ['Unable to tokenize SNP'] +495 MDM2 SNP309 protein False unable to normalize ['Unable to tokenize SNP309'] +478 AR SPLICE VARIANT 7 protein False unable to normalize ['Unable to tokenize SPLICE', 'Unable to tokenize VARIANT', 'Unable to tokenize 7'] +3108 VHL Single Allele Deletion protein False unable to normalize ['Unable to tokenize Single', 'Unable to tokenize Allele', 'Unable to tokenize Deletion'] +3409 TEK T1105N and T1106N protein False unable to normalize ['Unable to tokenize and'] +810 RUNX1 T148HFSX9 protein False unable to normalize ['Unable to tokenize T148HFSX9'] +491 HSPH1 T17 DELETION protein False unable to normalize ['Unable to tokenize T17', 'Unable to tokenize DELETION'] +2733 TP53 T170 protein False unable to normalize ['Unable to tokenize T170'] +3675 NOTCH1 T2512A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1546 KIT T417_D419DELTYDINSI protein False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] +3445 BRAF T598I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4074 TFEB TFEB amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" +2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +3473 TNC TNC-L protein False unable to normalize ['Unable to tokenize TNC-L'] diff --git a/requirements-dev.txt b/requirements-dev.txt index 1fce292c..a6c5a48c 100644 --- a/requirements-dev.txt +++ b/requirements-dev.txt @@ -1,5 +1,5 @@ -i https://pypi.org/simple -aiofiles==22.1.0 ; python_version >= '3.7' and python_version < '4.0' +aiofiles==23.1.0 ; python_version >= '3.7' and python_version < '4.0' anyio==3.6.2 ; python_full_version >= '3.6.2' appdirs==1.4.4 appnope==0.1.3 ; sys_platform == 'darwin' @@ -8,40 +8,37 @@ argon2-cffi-bindings==21.2.0 ; python_version >= '3.6' asttokens==2.2.1 asyncpg==0.27.0 ; python_full_version >= '3.7.0' attrs==22.2.0 ; python_version >= '3.6' -babel==2.11.0 ; python_version >= '3.6' backcall==0.2.0 +backports-datetime-fromisoformat==2.0.0 beautifulsoup4==4.11.2 ; python_full_version >= '3.6.0' biocommons.seqrepo==0.6.5 -bioutils==0.5.7 +bioutils==0.5.7 ; python_version >= '3.6' bleach==6.0.0 ; python_version >= '3.7' -boto3==1.26.61 -botocore==1.29.61 ; python_version >= '3.7' +boto3==1.26.72 +botocore==1.29.72 ; python_version >= '3.7' bs4==0.0.1 -canonicaljson==1.6.4 ; python_version >= '3.7' +canonicaljson==1.6.5 ; python_version >= '3.7' certifi==2022.12.7 ; python_version >= '3.6' cffi==1.15.1 cfgv==3.3.1 ; python_full_version >= '3.6.1' charset-normalizer==3.0.1 +civicpy==3.0.0 click==8.1.3 ; python_version >= '3.7' coloredlogs==15.0.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' comm==0.1.2 ; python_version >= '3.6' configparser==5.3.0 ; python_version >= '3.7' -contourpy==1.0.7 ; python_version >= '3.8' -cool-seq-tool==0.1.5 -coverage==6.5.0 -coveralls==3.3.1 +cool-seq-tool==0.1.6 +coverage[toml]==7.1.0 ; python_version >= '3.7' cssselect==1.2.0 ; python_version >= '3.7' -cycler==0.11.0 ; python_version >= '3.6' debugpy==1.6.6 ; python_version >= '3.7' decorator==5.1.1 ; python_version >= '3.5' defusedxml==0.7.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' +deprecation==2.1.0 distlib==0.3.6 -docopt==0.6.2 -docutils==0.19 ; python_version >= '3.7' exceptiongroup==1.1.0 ; python_version < '3.11' executing==1.2.0 fake-useragent==1.1.1 -fastapi==0.89.1 +fastapi==0.92.0 fastjsonschema==2.16.2 filelock==3.9.0 ; python_version >= '3.7' flake8==6.0.0 @@ -49,60 +46,51 @@ flake8-annotations==3.0.0 flake8-docstrings==1.7.0 flake8-import-order==0.18.2 flake8-quotes==3.3.2 -fonttools==4.38.0 ; python_version >= '3.7' ga4gh.vrs[extras]==0.8.1.dev0 ga4gh.vrsatile.pydantic==0.0.11 -gene-normalizer==0.1.31 +gene-normalizer==0.1.32 h11==0.14.0 ; python_version >= '3.7' hgvs==1.5.4 ; python_version >= '3.6' humanfriendly==10.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' -identify==2.5.17 ; python_version >= '3.7' +identify==2.5.18 ; python_version >= '3.7' idna==3.4 ; python_version >= '3.5' importlib-metadata==6.0.0 ; python_version >= '3.7' inflection==0.5.1 ; python_version >= '3.5' iniconfig==2.0.0 ; python_version >= '3.7' -ipykernel==6.20.2 -ipython==8.9.0 ; python_version >= '3.8' +ipykernel==6.21.2 +ipython==8.10.0 ; python_version >= '3.8' ipython-genutils==0.2.0 ipywidgets==8.0.4 ; python_version >= '3.7' -jaraco.classes==3.2.3 ; python_version >= '3.7' jedi==0.18.2 ; python_version >= '3.6' jinja2==3.1.2 ; python_version >= '3.7' jmespath==1.0.1 ; python_version >= '3.7' -json5==0.9.11 jsonschema==3.2.0 jupyter==1.0.0 -jupyter-client==8.0.2 ; python_version >= '3.8' -jupyter-console==6.4.4 ; python_version >= '3.7' +jupyter-client==8.0.3 ; python_version >= '3.8' +jupyter-console==6.5.1 ; python_version >= '3.7' jupyter-core==5.2.0 ; python_version >= '3.8' jupyter-events==0.6.3 ; python_version >= '3.7' -jupyter-server==2.1.0 ; python_version >= '3.8' +jupyter-server==2.3.0 ; python_version >= '3.8' jupyter-server-terminals==0.4.4 ; python_version >= '3.8' -jupyterlab==3.5.3 jupyterlab-pygments==0.2.2 ; python_version >= '3.7' -jupyterlab-server==2.16.6 ; python_version >= '3.7' jupyterlab-widgets==3.0.5 ; python_version >= '3.7' -keyring==23.13.1 ; python_version >= '3.7' -kiwisolver==1.4.4 ; python_version >= '3.7' lxml==4.9.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' markdown==3.4.1 ; python_version >= '3.7' -markdown-it-py==2.1.0 ; python_version >= '3.7' markupsafe==2.1.2 ; python_version >= '3.7' -matplotlib==3.6.3 matplotlib-inline==0.1.6 ; python_version >= '3.5' mccabe==0.7.0 ; python_version >= '3.6' -mdurl==0.1.2 ; python_version >= '3.7' -mistune==2.0.4 -more-itertools==9.0.0 ; python_version >= '3.7' +mistune==2.0.5 nbclassic==0.5.1 ; python_version >= '3.7' nbclient==0.7.2 ; python_full_version >= '3.7.0' nbconvert==7.2.9 ; python_version >= '3.7' nbformat==5.7.3 ; python_version >= '3.7' nest-asyncio==1.5.6 ; python_version >= '3.5' +networkx==3.0 ; python_version >= '3.8' nodeenv==1.7.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4, 3.5, 3.6' notebook==6.5.2 ; python_version >= '3.7' notebook-shim==0.2.2 ; python_version >= '3.7' -numpy==1.24.1 ; python_version >= '3.8' +numpy==1.24.2 ; python_version >= '3.8' +obonet==0.3.1 ; python_version >= '3.7' packaging==23.0 ; python_version >= '3.7' pandas==1.5.3 ; python_version >= '3.8' pandocfilters==1.5.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' @@ -111,11 +99,9 @@ parsley==1.3 parso==0.8.3 ; python_version >= '3.6' pexpect==4.8.0 ; sys_platform != 'win32' pickleshare==0.7.5 -pillow==9.4.0 ; python_version >= '3.7' -pkginfo==1.9.6 ; python_version >= '3.6' -platformdirs==2.6.2 ; python_version >= '3.7' +platformdirs==3.0.0 ; python_version >= '3.7' pluggy==1.0.0 ; python_version >= '3.6' -pre-commit==3.0.2 +pre-commit==3.0.4 prometheus-client==0.16.0 ; python_version >= '3.6' prompt-toolkit==3.0.36 ; python_full_version >= '3.6.2' psutil==5.9.4 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' @@ -125,13 +111,12 @@ ptyprocess==0.7.0 pure-eval==0.2.2 pycodestyle==2.10.0 ; python_version >= '3.6' pycparser==2.21 -pydantic==1.10.4 +pydantic==1.10.5 pydocstyle==6.3.0 ; python_version >= '3.6' pyee==8.2.2 pyflakes==3.0.1 ; python_version >= '3.6' pygments==2.14.0 ; python_version >= '3.6' pyliftover==0.4 -pyparsing==3.0.9 ; python_full_version >= '3.6.8' pyppeteer==1.0.2 ; python_version >= '3.7' and python_version < '4.0' pyquery==2.0.0 pyrsistent==0.19.3 ; python_version >= '3.7' @@ -139,51 +124,48 @@ pysam==0.20.0 pytest==7.2.1 pytest-asyncio==0.20.3 pytest-cov==4.0.0 -python-dateutil==2.8.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2' -python-json-logger==2.0.4 ; python_version >= '3.5' +python-dateutil==2.8.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' +python-dotenv==0.21.1 +python-json-logger==2.0.6 ; python_version >= '3.6' python-jsonschema-objects==0.4.1 pytz==2022.7.1 pyyaml==6.0 ; python_version >= '3.6' pyzmq==25.0.0 ; python_version >= '3.6' qtconsole==5.4.0 ; python_version >= '3.7' qtpy==2.3.0 ; python_version >= '3.7' -readme-renderer==37.3 ; python_version >= '3.7' requests==2.28.2 ; python_version >= '3.7' and python_version < '4' requests-html==0.10.0 ; python_full_version >= '3.6.0' -requests-toolbelt==0.10.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' rfc3339-validator==0.1.4 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' -rfc3986==2.0.0 ; python_version >= '3.7' rfc3986-validator==0.1.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' -rich==13.3.1 ; python_full_version >= '3.7.0' s3transfer==0.6.0 ; python_version >= '3.7' send2trash==1.8.0 -setuptools==67.0.0 ; python_version >= '3.7' -simplejson==3.18.1 ; python_version >= '2.5' and python_version not in '3.0, 3.1, 3.2' -six==1.16.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2' +setuptools==67.3.2 ; python_version >= '3.7' +simplejson==3.18.3 ; python_version >= '2.5' and python_version not in '3.0, 3.1, 3.2, 3.3' +six==1.16.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' sniffio==1.3.0 ; python_version >= '3.7' snowballstemmer==2.2.0 -soupsieve==2.3.2.post1 ; python_version >= '3.6' +soupsieve==2.4 ; python_version >= '3.7' sqlparse==0.4.3 ; python_version >= '3.5' stack-data==0.6.2 -starlette==0.22.0 ; python_version >= '3.7' +starlette==0.25.0 ; python_version >= '3.7' tabulate==0.9.0 ; python_version >= '3.7' terminado==0.17.1 ; python_version >= '3.7' tinycss2==1.2.1 ; python_version >= '3.7' -tomli==2.0.1 ; python_version >= '3.7' +tomli==2.0.1 ; python_version < '3.11' tornado==6.2 ; python_version >= '3.7' tqdm==4.64.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' traitlets==5.9.0 ; python_version >= '3.7' -twine==4.0.2 -typing-extensions==4.4.0 ; python_version >= '3.7' +typing-extensions==4.5.0 ; python_version >= '3.7' urllib3==1.26.14 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4, 3.5' uvicorn==0.20.0 -e . -virtualenv==20.17.1 ; python_version >= '3.6' +vcfpy==0.13.6 +virtualenv==20.19.0 ; python_version >= '3.7' w3lib==2.1.1 ; python_version >= '3.7' wcwidth==0.2.6 webencodings==0.5.1 -websocket-client==1.5.0 ; python_version >= '3.7' +websocket-client==1.5.1 ; python_version >= '3.7' websockets==10.4 ; python_version >= '3.7' widgetsnbextension==4.0.5 ; python_version >= '3.7' yoyo-migrations==8.2.0 -zipp==3.12.0 ; python_version >= '3.7' +zipp==3.13.0 ; python_version >= '3.7' diff --git a/requirements.txt b/requirements.txt index 60706640..5200213f 100644 --- a/requirements.txt +++ b/requirements.txt @@ -1,5 +1,5 @@ -i https://pypi.org/simple -aiofiles==22.1.0 ; python_version >= '3.7' and python_version < '4.0' +aiofiles==23.1.0 ; python_version >= '3.7' and python_version < '4.0' anyio==3.6.2 ; python_full_version >= '3.6.2' appdirs==1.4.4 appnope==0.1.3 ; sys_platform == 'darwin' @@ -9,39 +9,39 @@ attrs==22.2.0 ; python_version >= '3.6' backcall==0.2.0 beautifulsoup4==4.11.2 ; python_full_version >= '3.6.0' biocommons.seqrepo==0.6.5 -bioutils==0.5.7 -boto3==1.26.61 -botocore==1.29.61 ; python_version >= '3.7' +bioutils==0.5.7 ; python_version >= '3.6' +boto3==1.26.72 +botocore==1.29.72 ; python_version >= '3.7' bs4==0.0.1 -canonicaljson==1.6.4 ; python_version >= '3.7' +canonicaljson==1.6.5 ; python_version >= '3.7' certifi==2022.12.7 ; python_version >= '3.6' charset-normalizer==3.0.1 click==8.1.3 ; python_version >= '3.7' coloredlogs==15.0.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' configparser==5.3.0 ; python_version >= '3.7' -cool-seq-tool==0.1.5 +cool-seq-tool==0.1.6 cssselect==1.2.0 ; python_version >= '3.7' decorator==5.1.1 ; python_version >= '3.5' executing==1.2.0 fake-useragent==1.1.1 -fastapi==0.89.1 +fastapi==0.92.0 ga4gh.vrs[extras]==0.8.1.dev0 ga4gh.vrsatile.pydantic==0.0.11 -gene-normalizer==0.1.31 +gene-normalizer==0.1.32 h11==0.14.0 ; python_version >= '3.7' hgvs==1.5.4 ; python_version >= '3.6' humanfriendly==10.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' idna==3.4 ; python_version >= '3.5' importlib-metadata==6.0.0 ; python_version >= '3.7' inflection==0.5.1 ; python_version >= '3.5' -ipython==8.9.0 ; python_version >= '3.8' +ipython==8.10.0 ; python_version >= '3.8' jedi==0.18.2 ; python_version >= '3.6' jmespath==1.0.1 ; python_version >= '3.7' jsonschema==3.2.0 lxml==4.9.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' markdown==3.4.1 ; python_version >= '3.7' matplotlib-inline==0.1.6 ; python_version >= '3.5' -numpy==1.24.1 ; python_version >= '3.8' +numpy==1.24.2 ; python_version >= '3.8' pandas==1.5.3 ; python_version >= '3.8' parse==1.19.0 parsley==1.3 @@ -53,7 +53,7 @@ psycopg2==2.9.5 ; python_version >= '3.6' psycopg2-binary==2.9.5 ptyprocess==0.7.0 pure-eval==0.2.2 -pydantic==1.10.4 +pydantic==1.10.5 pyee==8.2.2 pygments==2.14.0 ; python_version >= '3.6' pyliftover==0.4 @@ -61,29 +61,29 @@ pyppeteer==1.0.2 ; python_version >= '3.7' and python_version < '4.0' pyquery==2.0.0 pyrsistent==0.19.3 ; python_version >= '3.7' pysam==0.20.0 -python-dateutil==2.8.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2' +python-dateutil==2.8.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' python-jsonschema-objects==0.4.1 pytz==2022.7.1 pyyaml==6.0 ; python_version >= '3.6' requests==2.28.2 ; python_version >= '3.7' and python_version < '4' requests-html==0.10.0 ; python_full_version >= '3.6.0' s3transfer==0.6.0 ; python_version >= '3.7' -setuptools==67.0.0 ; python_version >= '3.7' -simplejson==3.18.1 ; python_version >= '2.5' and python_version not in '3.0, 3.1, 3.2' -six==1.16.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2' +setuptools==67.3.2 ; python_version >= '3.7' +simplejson==3.18.3 ; python_version >= '2.5' and python_version not in '3.0, 3.1, 3.2, 3.3' +six==1.16.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' sniffio==1.3.0 ; python_version >= '3.7' -soupsieve==2.3.2.post1 ; python_version >= '3.6' +soupsieve==2.4 ; python_version >= '3.7' sqlparse==0.4.3 ; python_version >= '3.5' stack-data==0.6.2 -starlette==0.22.0 ; python_version >= '3.7' +starlette==0.25.0 ; python_version >= '3.7' tabulate==0.9.0 ; python_version >= '3.7' tqdm==4.64.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' traitlets==5.9.0 ; python_version >= '3.7' -typing-extensions==4.4.0 ; python_version >= '3.7' +typing-extensions==4.5.0 ; python_version >= '3.7' urllib3==1.26.14 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4, 3.5' uvicorn==0.20.0 w3lib==2.1.1 ; python_version >= '3.7' wcwidth==0.2.6 websockets==10.4 ; python_version >= '3.7' yoyo-migrations==8.2.0 -zipp==3.12.0 ; python_version >= '3.7' +zipp==3.13.0 ; python_version >= '3.7' diff --git a/setup.cfg b/setup.cfg index 0ffdecae..c9226621 100644 --- a/setup.cfg +++ b/setup.cfg @@ -34,13 +34,11 @@ install_requires = pyliftover boto3 ga4gh.vrsatile.pydantic ~= 0.0.11 - cool-seq-tool >= 0.1.5 - bioutils + cool-seq-tool >= 0.1.6 tests_require = pytest pytest-cov - pyyaml pytest-asyncio [options.package_data] @@ -51,9 +49,19 @@ variation = [options.extras_require] dev = pytest + pytest-asyncio pytest-cov - pyyaml + flake8 + flake8-docstrings + flake8-quotes + flake8-annotations + flake8-import-order + pre-commit + jupyter + ipykernel psycopg2-binary + civicpy >= 3.0.0 + python-dotenv [tool:pytest] addopts = --ignore setup.py --ignore=codebuild/ --doctest-modules --cov-report term-missing --cov . From 7b01960fe44bd8d33da739b767e8168f1e953618 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Mon, 20 Feb 2023 09:41:36 -0500 Subject: [PATCH 02/29] wip: update civic analysis include summary statistics --- notebooks/analysis/civic/civic_analysis.ipynb | 485 ++++++++++++++++-- .../civic/unable_to_normalize_queries.csv | 14 +- 2 files changed, 435 insertions(+), 64 deletions(-) diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index c8833d88..359b016f 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -28,7 +28,6 @@ "import logging\n", "from enum import Enum\n", "import re\n", - "from typing import Tuple, Optional\n", "import csv\n", "\n", "from civicpy import civic as civicpy\n", @@ -128,7 +127,7 @@ "metadata": {}, "outputs": [], "source": [ - "class Category(str, Enum):\n", + "class VariantCategory(str, Enum):\n", " \"\"\"Create enum for the kind of variants that are in CIViC.\"\"\"\n", " EXPRESSION = \"Expression\"\n", " EPIGENETIC_MODIFICATION = \"Epigenetic Modification\"\n", @@ -159,42 +158,42 @@ "outputs": [], "source": [ "not_supported = {\n", - " Category.EXPRESSION: {\n", + " VariantCategory.EXPRESSION: {\n", " \"overexpression\", \"expression\", \"underexpression\", \"serum levels\", \n", " \"transcription levels\"\n", " },\n", - " Category.EPIGENETIC_MODIFICATION: {\n", + " VariantCategory.EPIGENETIC_MODIFICATION: {\n", " \"methylation\", \"promoter hypermethylation\", \"promoter methylation\", \n", " \"phosphorylation\"\n", " },\n", - " Category.FUSION: {\n", + " VariantCategory.FUSION: {\n", " \"::\", \"fusion\"\n", " },\n", - " Category.FUNCTIONAL_PROTEIN_CONS: {\n", + " VariantCategory.FUNCTIONAL_PROTEIN_CONS: {\n", " \"frameshift truncation\", \"frameshift\", \"frame shift\"\n", " },\n", - " Category.FUNCTIONAL_GENE_FUNC: {\n", + " VariantCategory.FUNCTIONAL_GENE_FUNC: {\n", " \"gain of function\", \"gain-of-function\", \"loss of function\", \"loss-of-function\",\n", " \"activating mutation\", \"tkd mutation\", \"inactivation\"\n", " },\n", - " Category.REARRANGEMENTS: {\n", + " VariantCategory.REARRANGEMENTS: {\n", " \"translocation\", \"rearrangement\", \"double ph\", \"alu insertion\", \n", " \"exon 20 insertion\", \"internal tandem duplications\", \"tandem repeat\"\n", " },\n", - " Category.COPY_NUMBER: {\n", + " VariantCategory.COPY_NUMBER: {\n", " \"copy number\", \"repeat\", \"dup\"\n", " }, \n", - " Category.OTHER: {\n", + " VariantCategory.OTHER: {\n", " \"cytoplasmic mislocalization\", \"alternative transcript\"\n", " },\n", - " Category.GENOTYPES_EASY: {\n", + " VariantCategory.GENOTYPES_EASY: {\n", " \"diplotypes\", \"wild type\", \"wildtype\"\n", " },\n", - " Category.GENOTYPES_COMPOUND: {\n", + " VariantCategory.GENOTYPES_COMPOUND: {\n", " \"loss of heterozygosity\", \"biallelic inactivation\", \"bi-allelic inactivation\",\n", " \"homozygosity\", \n", " },\n", - " Category.REGION_DEFINED_VAR: {\n", + " VariantCategory.REGION_DEFINED_VAR: {\n", " \"deleterious mutation\", \"exon deletion\", \"domain mutation\", \"polymorphism\", \n", " \"non-p-loop mutation\", \"p-loop mutation\"\n", " }\n", @@ -206,32 +205,6 @@ "execution_count": 9, "metadata": {}, "outputs": [], - "source": [ - "def get_variant_name(variant: civicpy.Variant) -> Tuple[Optional[str], str]:\n", - " \"\"\"Get query to use from CIViC Variant data. If c. in query name, we will use the\n", - " genomic representative. \n", - "\n", - " :param civicpy.Variant variant: CIViC Variant record\n", - " :return: (variant name, whether the variant name is protein or genomic)\n", - " \"\"\"\n", - " variant_name = None\n", - " variant_query_type = None\n", - " if \"c.\" in variant.name:\n", - " variant_name = ([expr for expr in variant.hgvs_expressions \n", - " if \"g.\" in expr] or [None])[0]\n", - " variant_query_type = \"genomic\"\n", - " else:\n", - " variant_name = variant.name.strip()\n", - " variant_query_type = \"protein\"\n", - "\n", - " return variant_name, variant_query_type\n" - ] - }, - { - "cell_type": "code", - "execution_count": 10, - "metadata": {}, - "outputs": [], "source": [ "\n", "# This file contains CIViC Variants where there are no queries available.\n", @@ -267,13 +240,29 @@ " \"exception_raised\", \"message\", \"warnings\"])\n", "\n", "# Category name for variants we do not support: number of variants we found\n", - "category_counts = {c: 0 for c in Category.__members__}\n", + "variant_category_counts = {c: 0 for c in VariantCategory.__members__}\n", + "\n", + "# Keep track of total counts\n", + "no_query_total = {\"protein\": 0, \"genomic\": 0}\n", + "should_be_able_to_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", + "can_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", + "unable_to_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", + "exception_total = {\"protein\": 0, \"genomic\": 0}\n", "\n", - "i = 0\n", "for variant in variants:\n", - " v_name, v_q_type = get_variant_name(variant)\n", + " v_name = None\n", + " v_q_type = None\n", + " if \"c.\" in variant.name:\n", + " v_name = ([expr for expr in variant.hgvs_expressions \n", + " if \"g.\" in expr] or [None])[0]\n", + " v_q_type = \"genomic\"\n", + " else:\n", + " v_name = variant.name.strip()\n", + " v_q_type = \"protein\"\n", + "\n", " if not v_name:\n", " no_query_wr.writerow([variant.id, variant.name])\n", + " no_query_total[v_q_type] += 1\n", " continue\n", " \n", " gene_name = variant.gene.name.strip()\n", @@ -281,19 +270,19 @@ " \n", " categories = set()\n", " if v_name_lower in {\"loss\", \"deletion\"}:\n", - " categories.add(Category.FUNCTIONAL_GENE_FUNC)\n", + " categories.add(VariantCategory.FUNCTIONAL_GENE_FUNC)\n", " elif v_name_lower == \"mutation\":\n", - " categories.add(Category.REGION_DEFINED_VAR)\n", + " categories.add(VariantCategory.REGION_DEFINED_VAR)\n", " else:\n", " if re.match(r\".*e\\d+-e\\d+\", v_name_lower): # ex: e20-e20\n", - " categories.add(Category.FUSION)\n", + " categories.add(VariantCategory.FUSION)\n", " \n", " if \"exon\" in v_name_lower:\n", " if {x for x in {\"deletion\", \"mutation\"}}:\n", - " categories.add(Category.REGION_DEFINED_VAR)\n", + " categories.add(VariantCategory.REGION_DEFINED_VAR)\n", " \n", " if v_name_lower.endswith(\"fs\"):\n", - " categories.add(Category.FUNCTIONAL_PROTEIN_CONS)\n", + " categories.add(VariantCategory.FUNCTIONAL_PROTEIN_CONS)\n", "\n", " for k, v in not_supported.items():\n", " if {x for x in v if x in v_name_lower}:\n", @@ -301,12 +290,12 @@ "\n", " if len(categories) > 1:\n", " # Those with multiple categories will be classified as other\n", - " categories = {Category.OTHER}\n", + " categories = {VariantCategory.OTHER}\n", "\n", " if len(categories) == 1:\n", - " category_name = categories.pop()\n", - " category_counts[category_name.name] += 1\n", - " not_supported_wr.writerow([variant.id, gene_name, variant.name, category_name])\n", + " variant_category_name = categories.pop()\n", + " variant_category_counts[variant_category_name.name] += 1\n", + " not_supported_wr.writerow([variant.id, gene_name, variant.name, variant_category_name])\n", " else:\n", " # We should support this, so we need to query the variation normalizer\n", " if v_q_type == \"protein\":\n", @@ -316,15 +305,21 @@ " q = v_name\n", " genomic_variants_wr.writerow([variant.id, q])\n", "\n", + " should_be_able_to_normalize_total[v_q_type] += 1\n", + "\n", " try:\n", " variation_norm_resp = await query_handler.normalize_handler.normalize(q)\n", " if not variation_norm_resp.variation_descriptor:\n", " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, False,\n", " \"unable to normalize\",\n", " variation_norm_resp.warnings])\n", + " unable_to_normalize_total[v_q_type] += 1\n", + " else:\n", + " can_normalize_total[v_q_type] += 1\n", " except Exception as e:\n", " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, True, str(e),\n", " None])\n", + " exception_total[v_q_type] += 1\n", "\n", "# Close all files\n", "no_query_wf.close()\n", @@ -338,7 +333,27 @@ "cell_type": "markdown", "metadata": {}, "source": [ - "## Variants we do not support" + "## Variants that we could not find queries for" + ] + }, + { + "cell_type": "code", + "execution_count": 10, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'protein': 0, 'genomic': 406}" + ] + }, + "execution_count": 10, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "no_query_total" ] }, { @@ -349,7 +364,7 @@ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 939'" + "406" ] }, "execution_count": 11, @@ -358,14 +373,72 @@ } ], "source": [ - "f\"Total number of variants we do not support in the Variation Normalizer: \"\\\n", - "f\"{sum(category_counts.values())}\"" + "no_query_total_sum = sum(no_query_total.values())\n", + "no_query_total_sum" ] }, { "cell_type": "code", "execution_count": 12, "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'11.713791113675708% of the total variants had no queries'" + ] + }, + "execution_count": 12, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"{no_query_total_sum / total_variants * 100}% of the total variants had no queries\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Variants we do not support" + ] + }, + { + "cell_type": "code", + "execution_count": 13, + "metadata": {}, + "outputs": [], + "source": [ + "do_not_support_total_sum = sum(variant_category_counts.values())" + ] + }, + { + "cell_type": "code", + "execution_count": 14, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'Total number of variants we do not support in the Variation Normalizer: 939'" + ] + }, + "execution_count": 14, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"Total number of variants we do not support in the Variation Normalizer: \"\\\n", + "f\"{do_not_support_total_sum}\"" + ] + }, + { + "cell_type": "code", + "execution_count": 15, + "metadata": {}, "outputs": [ { "data": { @@ -383,13 +456,311 @@ " 'GENOTYPES_COMPOUND': 4}" ] }, - "execution_count": 12, + "execution_count": 15, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "dict(sorted(variant_category_counts.items(), key=lambda x: x[1], reverse=True))" + ] + }, + { + "cell_type": "code", + "execution_count": 16, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer does not support 27.091748413156374% of the total variants'" + ] + }, + "execution_count": 16, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer does not support {do_not_support_total_sum / total_variants * 100}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Variants we should be able to normalize" + ] + }, + { + "cell_type": "code", + "execution_count": 17, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'protein': 1718, 'genomic': 403}" + ] + }, + "execution_count": 17, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "should_be_able_to_normalize_total" + ] + }, + { + "cell_type": "code", + "execution_count": 18, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "2121" + ] + }, + "execution_count": 18, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "should_be_able_to_normalize_total_sum = sum(should_be_able_to_normalize_total.values())\n", + "should_be_able_to_normalize_total_sum" + ] + }, + { + "cell_type": "code", + "execution_count": 19, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer SHOULD be able to normalize 61.19446047316792% of the total variants'" + ] + }, + "execution_count": 19, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer SHOULD be able to normalize {should_be_able_to_normalize_total_sum / total_variants * 100}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Variants we were not able to normalize\n", + "\n", + "Either due to a bug or an unsupported query type in Variation Normalizer" + ] + }, + { + "cell_type": "code", + "execution_count": 20, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'protein': 325, 'genomic': 0}" + ] + }, + "execution_count": 20, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "unable_to_normalize_total" + ] + }, + { + "cell_type": "code", + "execution_count": 21, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "325" + ] + }, + "execution_count": 21, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "unable_to_normalize_total_sum = sum(unable_to_normalize_total.values())\n", + "unable_to_normalize_total_sum" + ] + }, + { + "cell_type": "code", + "execution_count": 22, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer was unable to normalize 9.376803231390653% of the total variants'" + ] + }, + "execution_count": 22, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer was unable to normalize {unable_to_normalize_total_sum / total_variants * 100}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Variant queries that raised an exception during normalization" + ] + }, + { + "cell_type": "code", + "execution_count": 23, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'protein': 0, 'genomic': 1}" + ] + }, + "execution_count": 23, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "exception_total" + ] + }, + { + "cell_type": "code", + "execution_count": 24, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "1" + ] + }, + "execution_count": 24, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "exception_total_sum = sum(exception_total.values())\n", + "exception_total_sum" + ] + }, + { + "cell_type": "code", + "execution_count": 25, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer raised an exception for 0.028851702250432775% of the total variants'" + ] + }, + "execution_count": 25, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer raised an exception for {exception_total_sum / total_variants * 100}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Variants we were able to normalize" + ] + }, + { + "cell_type": "code", + "execution_count": 26, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'protein': 1393, 'genomic': 402}" + ] + }, + "execution_count": 26, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "can_normalize_total" + ] + }, + { + "cell_type": "code", + "execution_count": 27, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "1795" + ] + }, + "execution_count": 27, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "can_normalize_total_sum = sum(can_normalize_total.values())\n", + "can_normalize_total_sum" + ] + }, + { + "cell_type": "code", + "execution_count": 28, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer successfully normalized 51.78880553952683% of the total variants'" + ] + }, + "execution_count": 28, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "dict(sorted(category_counts.items(), key=lambda x: x[1], reverse=True))" + "f\"The Variation Normalizer successfully normalized {can_normalize_total_sum / total_variants * 100}% of the total variants\"" ] } ], diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index 8f46a9f6..c1b03ae8 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -14,8 +14,8 @@ variant_id query query_type exception_raised message warnings 3718 AR A748V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3725 AR A765T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1307 TP53 ALTERATION protein False unable to normalize ['Unable to tokenize ALTERATION'] -842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" -2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" +2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" 309 EGFR AUTOCRINE ACTIVATION protein False unable to normalize ['Unable to tokenize AUTOCRINE', 'Unable to tokenize ACTIVATION'] 3510 BCL2L11 Alternative splicing protein False unable to normalize ['Unable to tokenize Alternative', 'Unable to tokenize splicing'] 2844 MITF Amplificatioin protein False unable to normalize ['Unable to tokenize Amplificatioin'] @@ -65,8 +65,8 @@ variant_id query query_type exception_raised message warnings 1635 EGFR E746_A750>IP protein False unable to normalize ['Unable to tokenize E746_A750>IP'] 1433 EGFR E746_S752>A protein False unable to normalize ['Unable to tokenize E746_S752>A'] 1003 EGFR E746_T751>I protein False unable to normalize ['Unable to tokenize E746_T751>I'] -3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" -2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" +2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" 4005 EWSR1 EWSR1-ERG protein False unable to normalize ['Unable to tokenize EWSR1-ERG'] 1854 EGFR Ex19 del L858R protein False unable to normalize ['Unable to tokenize Ex19', 'Unable to tokenize del'] 457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -75,7 +75,7 @@ variant_id query query_type exception_raised message warnings 92 NRAS G12 protein False unable to normalize ['Unable to tokenize G12'] 77 KRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] 596 NRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] -80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" 3793 TP53 G177E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3152 GNA11 G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3153 GNAQ G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -151,7 +151,7 @@ variant_id query query_type exception_raised message warnings 1866 EGFR L861 protein False unable to normalize ['Unable to tokenize L861'] 3483 LGR5 LGR5FL protein False unable to normalize ['Unable to tokenize LGR5FL'] 302 PTCH1 LOH protein False unable to normalize ['Unable to tokenize LOH'] -1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" 638 RB1 M695FS*26 protein False unable to normalize ['Unable to tokenize M695FS*26'] 3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3127 WT1 Mutations protein False unable to normalize ['Unable to tokenize Mutations'] @@ -263,5 +263,5 @@ variant_id query query_type exception_raised message warnings 1546 KIT T417_D419DELTYDINSI protein False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] 3445 BRAF T598I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4074 TFEB TFEB amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" -2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification', 'protein deletion', 'coding dna deletion', 'genomic insertion', 'silent mutation', 'genomic silent mutation', 'genomic deletion', 'genomic duplication', 'genomic deletion range', 'genomic substitution', 'polypeptide truncation', 'genomic uncertain deletion', 'coding dna delins', 'genomic delins', 'protein insertion', 'coding dna substitution', 'coding dna insertion', 'protein delins', 'protein substitution', 'coding dna silent mutation'}""]" +2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" 3473 TNC TNC-L protein False unable to normalize ['Unable to tokenize TNC-L'] From 48bd353e47a0b2787926a9861d40fb0a0ec8cfca Mon Sep 17 00:00:00 2001 From: korikuzma Date: Mon, 20 Feb 2023 14:22:10 -0500 Subject: [PATCH 03/29] wip: include civic variant duplicates --- notebooks/analysis/civic/civic_analysis.ipynb | 51 ++++++++++++++++--- notebooks/analysis/civic/no_query.csv | 4 +- .../civic/unable_to_normalize_queries.csv | 14 ++--- variation/validators/validator.py | 4 +- 4 files changed, 56 insertions(+), 17 deletions(-) diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 359b016f..9fb2a7f9 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -249,6 +249,8 @@ "unable_to_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", "exception_total = {\"protein\": 0, \"genomic\": 0}\n", "\n", + "queries_found = dict()\n", + "\n", "for variant in variants:\n", " v_name = None\n", " v_q_type = None\n", @@ -307,6 +309,12 @@ "\n", " should_be_able_to_normalize_total[v_q_type] += 1\n", "\n", + " \n", + " if q in queries_found:\n", + " queries_found[q].append(variant.id)\n", + " else:\n", + " queries_found[q] = [variant.id]\n", + " \n", " try:\n", " variation_norm_resp = await query_handler.normalize_handler.normalize(q)\n", " if not variation_norm_resp.variation_descriptor:\n", @@ -641,7 +649,7 @@ { "data": { "text/plain": [ - "{'protein': 0, 'genomic': 1}" + "{'protein': 0, 'genomic': 0}" ] }, "execution_count": 23, @@ -661,7 +669,7 @@ { "data": { "text/plain": [ - "1" + "0" ] }, "execution_count": 24, @@ -682,7 +690,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer raised an exception for 0.028851702250432775% of the total variants'" + "'The Variation Normalizer raised an exception for 0.0% of the total variants'" ] }, "execution_count": 25, @@ -710,7 +718,7 @@ { "data": { "text/plain": [ - "{'protein': 1393, 'genomic': 402}" + "{'protein': 1393, 'genomic': 403}" ] }, "execution_count": 26, @@ -730,7 +738,7 @@ { "data": { "text/plain": [ - "1795" + "1796" ] }, "execution_count": 27, @@ -751,7 +759,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer successfully normalized 51.78880553952683% of the total variants'" + "'The Variation Normalizer successfully normalized 51.81765724177726% of the total variants'" ] }, "execution_count": 28, @@ -762,6 +770,37 @@ "source": [ "f\"The Variation Normalizer successfully normalized {can_normalize_total_sum / total_variants * 100}% of the total variants\"" ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Duplicate Queries\n", + "\n", + "These are duplicate queries found in civic. The values are the associated variant IDs. " + ] + }, + { + "cell_type": "code", + "execution_count": 29, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'NC_000003.11:g.10188243T>C': [2034, 2508],\n", + " 'NC_000003.11:g.10183725C>G': [1751, 1787]}" + ] + }, + "execution_count": 29, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "{k:v for k,v in queries_found.items() if len(v) > 1}" + ] } ], "metadata": { diff --git a/notebooks/analysis/civic/no_query.csv b/notebooks/analysis/civic/no_query.csv index 109c7d70..a583f8cb 100644 --- a/notebooks/analysis/civic/no_query.csv +++ b/notebooks/analysis/civic/no_query.csv @@ -290,7 +290,7 @@ variant_id variant_name 3013 R82_V84del (c.243delGCGCGTCGT) 2264 R82_V84del (c.244_252del) 3747 S111I (c.332G>T) -4171 S111N (c.332G>A) +4171 S111N (c.332G>A) 2316 S139fs (c.415insC) 4154 S168Tfs*2 (c.503_513del) 3135 S38P (c.112T>C) @@ -399,7 +399,7 @@ variant_id variant_name 3039 c.652T>A 3050 c.7089+1del 3051 c.7515+1_2del -2433 c.89c297 +2433 c.89c297 3049 c.902-1G>T 3101 c.–65_–55dup11 4191 c.–65_–55dup11 AND 3' UTR alteration (c.*1149A>G) diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index c1b03ae8..c1611657 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -14,8 +14,8 @@ variant_id query query_type exception_raised message warnings 3718 AR A748V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3725 AR A765T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1307 TP53 ALTERATION protein False unable to normalize ['Unable to tokenize ALTERATION'] -842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" -2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" +842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" +2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" 309 EGFR AUTOCRINE ACTIVATION protein False unable to normalize ['Unable to tokenize AUTOCRINE', 'Unable to tokenize ACTIVATION'] 3510 BCL2L11 Alternative splicing protein False unable to normalize ['Unable to tokenize Alternative', 'Unable to tokenize splicing'] 2844 MITF Amplificatioin protein False unable to normalize ['Unable to tokenize Amplificatioin'] @@ -65,8 +65,8 @@ variant_id query query_type exception_raised message warnings 1635 EGFR E746_A750>IP protein False unable to normalize ['Unable to tokenize E746_A750>IP'] 1433 EGFR E746_S752>A protein False unable to normalize ['Unable to tokenize E746_S752>A'] 1003 EGFR E746_T751>I protein False unable to normalize ['Unable to tokenize E746_T751>I'] -3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" -2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" +3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" +2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" 4005 EWSR1 EWSR1-ERG protein False unable to normalize ['Unable to tokenize EWSR1-ERG'] 1854 EGFR Ex19 del L858R protein False unable to normalize ['Unable to tokenize Ex19', 'Unable to tokenize del'] 457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -75,7 +75,7 @@ variant_id query query_type exception_raised message warnings 92 NRAS G12 protein False unable to normalize ['Unable to tokenize G12'] 77 KRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] 596 NRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] -80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" +80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" 3793 TP53 G177E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3152 GNA11 G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3153 GNAQ G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -151,7 +151,7 @@ variant_id query query_type exception_raised message warnings 1866 EGFR L861 protein False unable to normalize ['Unable to tokenize L861'] 3483 LGR5 LGR5FL protein False unable to normalize ['Unable to tokenize LGR5FL'] 302 PTCH1 LOH protein False unable to normalize ['Unable to tokenize LOH'] -1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" +1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" 638 RB1 M695FS*26 protein False unable to normalize ['Unable to tokenize M695FS*26'] 3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3127 WT1 Mutations protein False unable to normalize ['Unable to tokenize Mutations'] @@ -263,5 +263,5 @@ variant_id query query_type exception_raised message warnings 1546 KIT T417_D419DELTYDINSI protein False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] 3445 BRAF T598I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4074 TFEB TFEB amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" -2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution', 'silent mutation', 'protein insertion', 'genomic duplication', 'genomic insertion', 'polypeptide truncation', 'coding dna delins', 'genomic delins', 'coding dna substitution', 'protein deletion', 'genomic uncertain deletion', 'protein delins', 'genomic substitution', 'coding dna insertion', 'genomic deletion range', 'coding dna silent mutation', 'amplification', 'coding dna deletion', 'genomic silent mutation', 'genomic deletion'}""]" +2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" 3473 TNC TNC-L protein False unable to normalize ['Unable to tokenize TNC-L'] diff --git a/variation/validators/validator.py b/variation/validators/validator.py index da2bb3f8..373d4a84 100644 --- a/variation/validators/validator.py +++ b/variation/validators/validator.py @@ -666,9 +666,9 @@ def _is_grch38_assembly(self, t: str) -> bool: :param str t: Accession :return: `True` if accession is GRCh38 assembly. `False` otherwise """ - translated_identifiers, w = self.seqrepo_access.translate_identifier(t) + translated_identifiers, _ = self.seqrepo_access.translate_identifier(t) if translated_identifiers: - return "GRCh38" in ([a for a in translated_identifiers if a.startswith("GRCh")] or [None])[0] # noqa: E501 + return bool([a for a in translated_identifiers if a.startswith("GRCh38")]) return False async def add_genomic_liftover_to_results( From b75b95ba75b6260fe89c20c4580f94b695348fb0 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Mon, 20 Feb 2023 15:53:57 -0500 Subject: [PATCH 04/29] wip: initial work for moa analysis --- notebooks/analysis/moa/moa_analysis.ipynb | 161 ++++++++++++++++++++++ 1 file changed, 161 insertions(+) create mode 100644 notebooks/analysis/moa/moa_analysis.ipynb diff --git a/notebooks/analysis/moa/moa_analysis.ipynb b/notebooks/analysis/moa/moa_analysis.ipynb new file mode 100644 index 00000000..68414d60 --- /dev/null +++ b/notebooks/analysis/moa/moa_analysis.ipynb @@ -0,0 +1,161 @@ +{ + "cells": [ + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [ + "import logging\n", + "from enum import Enum\n", + "import re\n", + "import csv\n", + "\n", + "from dotenv import load_dotenv\n", + "import requests\n", + "\n", + "from variation.query import QueryHandler" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [ + "# Environment variables are set for gene-normalizer dynamodb instance and \n", + "# UTA DB credentials\n", + "load_dotenv()" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [ + "# query_handler = QueryHandler()" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [ + "r = requests.get(\"https://moalmanac.org/api/features\")\n", + "variants_resp = r.json()\n", + "variants = list()" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [ + "no_feature_found = dict()\n", + "for v in variants_resp:\n", + " variant_record = {\n", + " \"id\": v[\"feature_id\"]\n", + " }\n", + " variant_record.update(v[\"attributes\"][0])\n", + "\n", + " feature_type = variant_record[\"feature_type\"]\n", + " supported = False\n", + " if feature_type == \"rearrangement\":\n", + " feature = \"{}{}{}\".format(variant_record[\"gene1\"] if variant_record.get(\"gene1\") else \"\",\n", + " f\"--{variant_record['gene2']}\" if variant_record.get(\"gene2\") else \"\",\n", + " f\" {variant_record['rearrangement_type']}\"\n", + " if variant_record.get(\"rearrangement_type\") else \"\")\n", + " elif feature_type == \"somatic_variant\":\n", + " feature = \"{}{}\".format(variant_record[\"gene\"] if variant_record.get(\"gene\") else \"\",\n", + " f\" {variant_record['protein_change']}\"\n", + " if variant_record.get(\"protein_change\") else \"\")\n", + " supported = True\n", + " elif feature_type == \"germline_variant\":\n", + " # TODO: Check this\n", + " feature = \"{}{}\".format(variant_record[\"gene\"], \" (Pathogenic)\"\n", + " if variant_record[\"pathogenic\"] == \"1.0\" else \"\")\n", + " elif feature_type == \"copy_number\":\n", + " feature = \"{} {}\".format(variant_record[\"gene\"], variant_record[\"direction\"])\n", + " elif feature_type == \"microsatellite_stability\":\n", + " feature = \"{}\".format(variant_record.get(\"status\"))\n", + " elif feature_type == \"mutational_signature\":\n", + " csn = variant_record[\"cosmic_signature_number\"]\n", + " feature = \"COSMIC Signature {}\".format(csn)\n", + " elif feature_type == \"mutational_burden\":\n", + " clss = variant_record[\"classification\"]\n", + " min_mut = variant_record[\"minimum_mutations\"]\n", + " mut_per_mb = variant_record[\"mutations_per_mb\"]\n", + " feature = \"{}{}\".format(clss,\n", + " f\" (>= {min_mut} mutations)\" if min_mut\n", + " else (f\" (>= {mut_per_mb} mutations/Mb)\"\n", + " if mut_per_mb else \"\"))\n", + " elif feature_type == \"neoantigen_burden\":\n", + " feature = \"{}\".format(variant_record[\"classification\"])\n", + " elif feature_type == \"knockdown\" or feature_type == \"silencing\":\n", + " feature = \"{}{}\".format(variant_record[\"gene\"], f\" ({variant_record['technique']})\"\n", + " if variant_record[\"technique\"] else \"\")\n", + " else:\n", + " feature = \"{}\".format(variant_record[\"event\"])\n", + " \n", + " if not feature:\n", + " no_feature_found[variant_record[\"id\"]] = v\n", + "\n", + " if len(feature.split()) == 1:\n", + " # A lot of these are just Gene names\n", + " continue\n", + "\n", + " if not supported:\n", + " # Do not even try to normalizer\n", + " continue\n", + " \n", + " variant_record[\"feature\"] = feature\n", + " # TODO: analysis\n", + "\n" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [] + } + ], + "metadata": { + "kernelspec": { + "display_name": "variation-normalization-KPVKcmjd", + "language": "python", + "name": "python3" + }, + "language_info": { + "codemirror_mode": { + "name": "ipython", + "version": 3 + }, + "file_extension": ".py", + "mimetype": "text/x-python", + "name": "python", + "nbconvert_exporter": "python", + "pygments_lexer": "ipython3", + "version": "3.10.8" + }, + "orig_nbformat": 4, + "vscode": { + "interpreter": { + "hash": "0be8ba9a7b89517724a412b9d40e184059795303560bd1108143a8aed13113be" + } + } + }, + "nbformat": 4, + "nbformat_minor": 2 +} From 132341be78202f460c8eccd1b3b93c5298d7d89f Mon Sep 17 00:00:00 2001 From: korikuzma Date: Mon, 20 Feb 2023 16:45:28 -0500 Subject: [PATCH 05/29] wip: fix civic unable to normalize file --- notebooks/analysis/civic/civic_analysis.ipynb | 13 ++-- .../civic/unable_to_normalize_queries.csv | 73 +++++++++++++++++-- 2 files changed, 73 insertions(+), 13 deletions(-) diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 9fb2a7f9..4da2e74a 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -211,30 +211,30 @@ "# One example would be a CIViC Variant whose name has \"c.\" in it. In this case,\n", "# we want the genomic representative. We look at the HGVS expressions to find a genomic\n", "# expression. If there is no genomic HGVS expression, we have no name for a query\n", - "no_query_wf = open(\"no_query.csv\", \"w+\")\n", + "no_query_wf = open(\"no_query.csv\", \"w\")\n", "no_query_wr = csv.writer(no_query_wf, delimiter=\"\\t\")\n", "no_query_wr.writerow([\"variant_id\", \"variant_name\"])\n", "\n", "# This file contains protein queries (gene + variant_name) we SHOULD be able to\n", "# normalize\n", - "protein_variants_wf = open(\"all_protein_variant_queries.csv\", \"w+\")\n", + "protein_variants_wf = open(\"all_protein_variant_queries.csv\", \"w\")\n", "protein_variants_wr = csv.writer(protein_variants_wf, delimiter=\"\\t\")\n", "protein_variants_wr.writerow([\"variant_id\", \"gene_name\", \"variant_name\"])\n", "\n", "# This file contains genomic queries (genomic HGVS expressions) we SHOULD be able to\n", "# normalize\n", - "genomic_variants_wf = open(\"all_genomic_variant_queries.csv\", \"w+\")\n", + "genomic_variants_wf = open(\"all_genomic_variant_queries.csv\", \"w\")\n", "genomic_variants_wr = csv.writer(genomic_variants_wf, delimiter=\"\\t\")\n", "genomic_variants_wr.writerow([\"variant_id\", \"hgvs_g\"])\n", "\n", "# This file contains CIViC Variants we do not currently support in Variation Normalizer.\n", "# In these cases, we do not even attempt to try to normalize\n", - "not_supported_wf = open(\"not_supported_variants.csv\", \"w+\")\n", + "not_supported_wf = open(\"not_supported_variants.csv\", \"w\")\n", "not_supported_wr = csv.writer(not_supported_wf, delimiter=\"\\t\")\n", "not_supported_wr.writerow([\"variant_id\", \"gene_name\", \"variant_name\", \"category\"])\n", "\n", "# This file contains CIViC Variant queries that we were not able to normalize.\n", - "unable_to_normalize_wf = open(\"unable_to_normalize_queries.csv\", \"w+\")\n", + "unable_to_normalize_wf = open(\"unable_to_normalize_queries.csv\", \"w\")\n", "unable_to_normalize_wr = csv.writer(unable_to_normalize_wf, delimiter=\"\\t\")\n", "unable_to_normalize_wr.writerow([\"variant_id\", \"query\", \"query_type\",\n", " \"exception_raised\", \"message\", \"warnings\"])\n", @@ -333,7 +333,8 @@ "no_query_wf.close()\n", "protein_variants_wf.close()\n", "genomic_variants_wf.close()\n", - "not_supported_wf.close()" + "not_supported_wf.close()\n", + "unable_to_normalize_wf.close()" ] }, { diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index c1611657..e0916f5f 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -14,8 +14,8 @@ variant_id query query_type exception_raised message warnings 3718 AR A748V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3725 AR A765T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1307 TP53 ALTERATION protein False unable to normalize ['Unable to tokenize ALTERATION'] -842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" -2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" +842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" +2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" 309 EGFR AUTOCRINE ACTIVATION protein False unable to normalize ['Unable to tokenize AUTOCRINE', 'Unable to tokenize ACTIVATION'] 3510 BCL2L11 Alternative splicing protein False unable to normalize ['Unable to tokenize Alternative', 'Unable to tokenize splicing'] 2844 MITF Amplificatioin protein False unable to normalize ['Unable to tokenize Amplificatioin'] @@ -65,8 +65,8 @@ variant_id query query_type exception_raised message warnings 1635 EGFR E746_A750>IP protein False unable to normalize ['Unable to tokenize E746_A750>IP'] 1433 EGFR E746_S752>A protein False unable to normalize ['Unable to tokenize E746_S752>A'] 1003 EGFR E746_T751>I protein False unable to normalize ['Unable to tokenize E746_T751>I'] -3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" -2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" +3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" +2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" 4005 EWSR1 EWSR1-ERG protein False unable to normalize ['Unable to tokenize EWSR1-ERG'] 1854 EGFR Ex19 del L858R protein False unable to normalize ['Unable to tokenize Ex19', 'Unable to tokenize del'] 457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -75,7 +75,7 @@ variant_id query query_type exception_raised message warnings 92 NRAS G12 protein False unable to normalize ['Unable to tokenize G12'] 77 KRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] 596 NRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] -80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" +80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" 3793 TP53 G177E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3152 GNA11 G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3153 GNAQ G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -151,7 +151,7 @@ variant_id query query_type exception_raised message warnings 1866 EGFR L861 protein False unable to normalize ['Unable to tokenize L861'] 3483 LGR5 LGR5FL protein False unable to normalize ['Unable to tokenize LGR5FL'] 302 PTCH1 LOH protein False unable to normalize ['Unable to tokenize LOH'] -1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" +1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" 638 RB1 M695FS*26 protein False unable to normalize ['Unable to tokenize M695FS*26'] 3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3127 WT1 Mutations protein False unable to normalize ['Unable to tokenize Mutations'] @@ -263,5 +263,64 @@ variant_id query query_type exception_raised message warnings 1546 KIT T417_D419DELTYDINSI protein False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] 3445 BRAF T598I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4074 TFEB TFEB amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" -2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'silent mutation', 'coding dna insertion', 'amplification', 'genomic insertion', 'genomic deletion range', 'genomic duplication', 'genomic uncertain deletion', 'coding dna silent mutation', 'coding dna substitution', 'protein delins', 'genomic silent mutation', 'coding dna deletion', 'protein insertion', 'protein substitution', 'protein deletion', 'genomic delins', 'coding dna delins', 'polypeptide truncation', 'genomic substitution', 'genomic deletion'}""]" +2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" 3473 TNC TNC-L protein False unable to normalize ['Unable to tokenize TNC-L'] +3486 TOP2A TOP2A/90 protein False unable to normalize ['Unable to tokenize TOP2A/90'] +590 BIRC3 TRUNCATING MUTATION protein False unable to normalize ['Unable to tokenize TRUNCATING', 'Unable to tokenize MUTATION'] +708 BRCA2 TRUNCATING MUTATION protein False unable to normalize ['Unable to tokenize TRUNCATING', 'Unable to tokenize MUTATION'] +3110 CREBBP TRUNCATING MUTATIONS AND DELETERIOUS SUBSTITUTIONS protein False unable to normalize ['Unable to tokenize TRUNCATING', 'Unable to tokenize MUTATIONS', 'Unable to tokenize AND', 'Unable to tokenize DELETERIOUS', 'Unable to tokenize SUBSTITUTIONS'] +223 TP53 Truncating Mutation protein False unable to normalize ['Unable to tokenize Truncating', 'Unable to tokenize Mutation'] +729 UGT1A1 UGT1A1*28 protein False unable to normalize ['Unable to tokenize UGT1A1*28'] +732 UGT1A1 UGT1A1*60 protein False unable to normalize ['Unable to tokenize UGT1A1*60'] +2624 TP53 V135A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1316 KIT V559 protein False unable to normalize ['Unable to tokenize V559'] +3452 BRAF V599D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3446 BRAF V599E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3453 BRAF V599K protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3454 BRAF V599R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +17 BRAF V600 protein False unable to normalize ['Unable to tokenize V600'] +2820 BRAF V600_K601>E protein False unable to normalize ['Unable to tokenize V600_K601>E'] +2821 BRAF V600_S602>DT protein False unable to normalize ['Unable to tokenize V600_S602>DT'] +2825 BRAF V601E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3721 AR V757A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3722 AR V757I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1310 ERBB2 V773 protein False unable to normalize ['Unable to tokenize V773'] +312 EGFR VIII protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" +2728 TP53 W146 protein False unable to normalize ['Unable to tokenize W146'] +1539 PDGFRA W559_R560DELWR protein False unable to normalize ['Unable to tokenize W559_R560DELWR'] +176 AR W742 protein False unable to normalize ['Unable to tokenize W742'] +2720 TP53 Y205 protein False unable to normalize ['Unable to tokenize Y205'] +1542 KIT Y553_W557DELYEVQW protein False unable to normalize ['Unable to tokenize Y553_W557DELYEVQW'] +3327 FLT3 Y572Δ protein False unable to normalize ['Unable to tokenize Y572Δ'] +165 EZH2 Y646 protein False unable to normalize ['Unable to tokenize Y646'] +3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V protein False unable to normalize ['Unable to tokenize Y646F,', 'Unable to tokenize Y646N,', 'Unable to tokenize Y646S,', 'Unable to tokenize Y646H,', 'Unable to tokenize Y646C,', 'Unable to tokenize A682G,'] +3055 FLT3 Y693 protein False unable to normalize ['Unable to tokenize Y693'] +1672 EGFR Y69FS*11 protein False unable to normalize ['Unable to tokenize Y69FS*11'] +3724 AR Y763C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3410 TEK Y897C and R915C protein False unable to normalize ['Unable to tokenize and'] +3477 ESR2 beta-2 and beta-5 protein False unable to normalize ['Unable to tokenize beta-2', 'Unable to tokenize and'] +3511 CD19 delta-ex2, delta-ex5-6 protein False unable to normalize ['Unable to tokenize delta-ex2,', 'Unable to tokenize delta-ex5-6'] +3487 BRCA1 delta11q protein False unable to normalize ['Unable to tokenize delta11q'] +3482 LGR5 delta5 protein False unable to normalize ['Unable to tokenize delta5'] +2807 BRCA1 gBRCAm protein False unable to normalize ['Unable to tokenize gBRCAm'] +3323 VEGFA low ratio of VEGF165b/VEGFtotal protein False unable to normalize ['Unable to tokenize low', 'Unable to tokenize ratio', 'Unable to tokenize VEGF165b/VEGFtotal'] +3057 GATA1 p.Ser51Alafs*86 protein False unable to normalize ['Unable to tokenize p.Ser51Alafs*86'] +3512 BRAF p61BRAF(V600E) protein False unable to normalize ['Unable to tokenize p61BRAF(V600E)'] +3313 CDKN1A rs1059234 protein False unable to normalize ['Unable to tokenize rs1059234'] +2787 PRNCR1 rs1456315 protein False unable to normalize ['Unable to tokenize rs1456315'] +256 KIT rs17084733 protein False unable to normalize ['Unable to tokenize rs17084733'] +2671 CDKN1A rs1801270 protein False unable to normalize ['Unable to tokenize rs1801270'] +3314 CDKN1A rs1801270 and rs1059234 protein False unable to normalize ['Unable to tokenize rs1801270', 'Unable to tokenize and', 'Unable to tokenize rs1059234'] +705 GADD45A rs681673 protein False unable to normalize ['Unable to tokenize rs681673'] +3703 GALNT14 rs9679162 protein False unable to normalize ['Unable to tokenize rs9679162'] +4284 VHL t(1;3)(p36.3;p25) protein False unable to normalize ['Unable to tokenize t(1;3)(p36.3;p25)'] +2429 VHL t(1;3)(q32;q13.3) protein False unable to normalize ['Unable to tokenize t(1;3)(q32;q13.3)'] +2876 VHL t(2;3)(q35;q21) protein False unable to normalize ['Unable to tokenize t(2;3)(q35;q21)'] +3265 VHL t(3;12)(q13.13;q24.23) protein False unable to normalize ['Unable to tokenize t(3;12)(q13.13;q24.23)'] +4009 VHL t(3;12)(q13.2;q24.1) protein False unable to normalize ['Unable to tokenize t(3;12)(q13.2;q24.1)'] +3524 MECOM t(3;21)(q26.2;q22) protein False unable to normalize ['Unable to tokenize t(3;21)(q26.2;q22)'] +3264 VHL t(3;6)(p12.3;q24.3) protein False unable to normalize ['Unable to tokenize t(3;6)(p12.3;q24.3)'] +4008 VHL t(3;6)(p13;q25.1) protein False unable to normalize ['Unable to tokenize t(3;6)(p13;q25.1)'] +3351 VHL t(3;8)(p13;q24.1) protein False unable to normalize ['Unable to tokenize t(3;8)(p13;q24.1)'] +3508 CD274 v242 protein False unable to normalize ['Unable to tokenize v242'] +2422 NTRK3 ~DEPRECATED-ETV6-NTRK3 protein False unable to normalize ['Unable to tokenize ~DEPRECATED-ETV6-NTRK3'] From 1546c152ce6a7438269be8baaf89a2f4f73ff57d Mon Sep 17 00:00:00 2001 From: korikuzma Date: Tue, 21 Feb 2023 08:48:57 -0500 Subject: [PATCH 06/29] wip: add breakdown for unable to normalize for civic --- notebooks/analysis/civic/civic_analysis.ipynb | 125 +++++++++++++++++- 1 file changed, 118 insertions(+), 7 deletions(-) diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 4da2e74a..760bebf5 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -12,7 +12,7 @@ }, { "cell_type": "code", - "execution_count": 1, + "execution_count": 2, "metadata": {}, "outputs": [ { @@ -40,7 +40,7 @@ }, { "cell_type": "code", - "execution_count": 2, + "execution_count": 23, "metadata": {}, "outputs": [ { @@ -49,7 +49,7 @@ "True" ] }, - "execution_count": 2, + "execution_count": 23, "metadata": {}, "output_type": "execute_result" } @@ -81,7 +81,7 @@ }, { "cell_type": "code", - "execution_count": 5, + "execution_count": 24, "metadata": {}, "outputs": [ { @@ -90,7 +90,7 @@ "True" ] }, - "execution_count": 5, + "execution_count": 24, "metadata": {}, "output_type": "execute_result" } @@ -101,7 +101,7 @@ }, { "cell_type": "code", - "execution_count": 6, + "execution_count": 25, "metadata": {}, "outputs": [ { @@ -110,7 +110,7 @@ "'Total Number of variants in CIViC: 3466'" ] }, - "execution_count": 6, + "execution_count": 25, "metadata": {}, "output_type": "execute_result" } @@ -634,6 +634,117 @@ "f\"The Variation Normalizer was unable to normalize {unable_to_normalize_total_sum / total_variants * 100}% of the total variants\"" ] }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Breakdown of the variants we weren't able to normalize\n", + "\n", + "In this section, we breakdown the reasons on why we weren't able to normalize variants." + ] + }, + { + "cell_type": "code", + "execution_count": 29, + "metadata": {}, + "outputs": [], + "source": [ + "unable_to_tokenize = 0\n", + "unable_to_find_valid = 0\n", + "other = 0\n", + "with open(\"unable_to_normalize_queries.csv\", \"r\") as f:\n", + " reader = csv.reader(f, delimiter=\"\\t\")\n", + " next(reader)\n", + " for row in reader:\n", + " if \"Unable to find valid result\" in row[-1]:\n", + " unable_to_find_valid += 1\n", + " elif \"Unable to tokenize\" in row[-1]:\n", + " unable_to_tokenize += 1\n", + " else:\n", + " other += 1" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "### Due to invalid \n", + "\n", + "The Variation Normalizer performs validation checks on the input query (such as reference sequence). If these validation checks fail, then the input query will fail to normalize." + ] + }, + { + "cell_type": "code", + "execution_count": 30, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer found 67 invalid variants (This is 1.933064050778996% of the total variants).'" + ] + }, + "execution_count": 30, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer found {unable_to_find_valid} invalid variants (This is {unable_to_find_valid / total_variants * 100}% of the total variants).\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "### Due to tokenization \n", + "\n", + "The Variation Normalizer will tokenize the input query to determine the kind of token. It is limited in the kinds of tokens it accepts, so these tokens are not yet supported in the Variation Normalizer. " + ] + }, + { + "cell_type": "code", + "execution_count": 31, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer was unable to tokenize 258 variants (7.443739180611655% of the total variants).'" + ] + }, + "execution_count": 31, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer was unable to tokenize {unable_to_tokenize} variants ({unable_to_tokenize / total_variants * 100}% of the total variants).\"" + ] + }, + { + "cell_type": "code", + "execution_count": 32, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.0% of the total variants).'" + ] + }, + "execution_count": 32, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer was unable to normalize {other} variants due to other issues (This is {other / total_variants * 100}% of the total variants).\"" + ] + }, { "attachments": {}, "cell_type": "markdown", From 4154c7e1005c04464c19b31d95047ae87099f0cc Mon Sep 17 00:00:00 2001 From: korikuzma Date: Tue, 21 Feb 2023 10:20:45 -0500 Subject: [PATCH 07/29] wip: add percentage for variant category --- notebooks/analysis/civic/civic_analysis.ipynb | 107 +++++++++++++----- .../civic/unable_to_normalize_queries.csv | 16 +-- 2 files changed, 85 insertions(+), 38 deletions(-) diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 760bebf5..1134d058 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -12,7 +12,7 @@ }, { "cell_type": "code", - "execution_count": 2, + "execution_count": 1, "metadata": {}, "outputs": [ { @@ -40,7 +40,7 @@ }, { "cell_type": "code", - "execution_count": 23, + "execution_count": 2, "metadata": {}, "outputs": [ { @@ -49,7 +49,7 @@ "True" ] }, - "execution_count": 23, + "execution_count": 2, "metadata": {}, "output_type": "execute_result" } @@ -81,7 +81,7 @@ }, { "cell_type": "code", - "execution_count": 24, + "execution_count": 5, "metadata": {}, "outputs": [ { @@ -90,7 +90,7 @@ "True" ] }, - "execution_count": 24, + "execution_count": 5, "metadata": {}, "output_type": "execute_result" } @@ -101,7 +101,7 @@ }, { "cell_type": "code", - "execution_count": 25, + "execution_count": 6, "metadata": {}, "outputs": [ { @@ -110,7 +110,7 @@ "'Total Number of variants in CIViC: 3466'" ] }, - "execution_count": 25, + "execution_count": 6, "metadata": {}, "output_type": "execute_result" } @@ -444,6 +444,14 @@ "f\"{do_not_support_total_sum}\"" ] }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "Below are the total number of variants for each category that we do not support" + ] + }, { "cell_type": "code", "execution_count": 15, @@ -471,7 +479,46 @@ } ], "source": [ - "dict(sorted(variant_category_counts.items(), key=lambda x: x[1], reverse=True))" + "sorted_variant_cat_counts = dict(sorted(variant_category_counts.items(), key=lambda x: x[1], reverse=True))\n", + "sorted_variant_cat_counts" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "Below is the total percentage of variants for each category that we do not support" + ] + }, + { + "cell_type": "code", + "execution_count": 34, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'FUSION': '8.97%',\n", + " 'EXPRESSION': '8.08%',\n", + " 'REGION_DEFINED_VAR': '4.44%',\n", + " 'FUNCTIONAL_GENE_FUNC': '2.37%',\n", + " 'FUNCTIONAL_PROTEIN_CONS': '0.87%',\n", + " 'COPY_NUMBER': '0.78%',\n", + " 'EPIGENETIC_MODIFICATION': '0.43%',\n", + " 'REARRANGEMENTS': '0.43%',\n", + " 'OTHER': '0.40%',\n", + " 'GENOTYPES_EASY': '0.20%',\n", + " 'GENOTYPES_COMPOUND': '0.12%'}" + ] + }, + "execution_count": 34, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "{k: f\"{v / 3466 * 100:.2f}%\" for k, v in sorted_variant_cat_counts.items()}" ] }, { @@ -646,7 +693,7 @@ }, { "cell_type": "code", - "execution_count": 29, + "execution_count": 23, "metadata": {}, "outputs": [], "source": [ @@ -670,14 +717,14 @@ "cell_type": "markdown", "metadata": {}, "source": [ - "### Due to invalid \n", + "### Due to not passing validation checks\n", "\n", "The Variation Normalizer performs validation checks on the input query (such as reference sequence). If these validation checks fail, then the input query will fail to normalize." ] }, { "cell_type": "code", - "execution_count": 30, + "execution_count": 24, "metadata": {}, "outputs": [ { @@ -686,7 +733,7 @@ "'The Variation Normalizer found 67 invalid variants (This is 1.933064050778996% of the total variants).'" ] }, - "execution_count": 30, + "execution_count": 24, "metadata": {}, "output_type": "execute_result" } @@ -707,7 +754,7 @@ }, { "cell_type": "code", - "execution_count": 31, + "execution_count": 25, "metadata": {}, "outputs": [ { @@ -716,7 +763,7 @@ "'The Variation Normalizer was unable to tokenize 258 variants (7.443739180611655% of the total variants).'" ] }, - "execution_count": 31, + "execution_count": 25, "metadata": {}, "output_type": "execute_result" } @@ -727,7 +774,7 @@ }, { "cell_type": "code", - "execution_count": 32, + "execution_count": 26, "metadata": {}, "outputs": [ { @@ -736,7 +783,7 @@ "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.0% of the total variants).'" ] }, - "execution_count": 32, + "execution_count": 26, "metadata": {}, "output_type": "execute_result" } @@ -755,7 +802,7 @@ }, { "cell_type": "code", - "execution_count": 23, + "execution_count": 27, "metadata": {}, "outputs": [ { @@ -764,7 +811,7 @@ "{'protein': 0, 'genomic': 0}" ] }, - "execution_count": 23, + "execution_count": 27, "metadata": {}, "output_type": "execute_result" } @@ -775,7 +822,7 @@ }, { "cell_type": "code", - "execution_count": 24, + "execution_count": 28, "metadata": {}, "outputs": [ { @@ -784,7 +831,7 @@ "0" ] }, - "execution_count": 24, + "execution_count": 28, "metadata": {}, "output_type": "execute_result" } @@ -796,7 +843,7 @@ }, { "cell_type": "code", - "execution_count": 25, + "execution_count": 29, "metadata": {}, "outputs": [ { @@ -805,7 +852,7 @@ "'The Variation Normalizer raised an exception for 0.0% of the total variants'" ] }, - "execution_count": 25, + "execution_count": 29, "metadata": {}, "output_type": "execute_result" } @@ -824,7 +871,7 @@ }, { "cell_type": "code", - "execution_count": 26, + "execution_count": 30, "metadata": {}, "outputs": [ { @@ -833,7 +880,7 @@ "{'protein': 1393, 'genomic': 403}" ] }, - "execution_count": 26, + "execution_count": 30, "metadata": {}, "output_type": "execute_result" } @@ -844,7 +891,7 @@ }, { "cell_type": "code", - "execution_count": 27, + "execution_count": 31, "metadata": {}, "outputs": [ { @@ -853,7 +900,7 @@ "1796" ] }, - "execution_count": 27, + "execution_count": 31, "metadata": {}, "output_type": "execute_result" } @@ -865,7 +912,7 @@ }, { "cell_type": "code", - "execution_count": 28, + "execution_count": 32, "metadata": {}, "outputs": [ { @@ -874,7 +921,7 @@ "'The Variation Normalizer successfully normalized 51.81765724177726% of the total variants'" ] }, - "execution_count": 28, + "execution_count": 32, "metadata": {}, "output_type": "execute_result" } @@ -895,7 +942,7 @@ }, { "cell_type": "code", - "execution_count": 29, + "execution_count": 33, "metadata": {}, "outputs": [ { @@ -905,7 +952,7 @@ " 'NC_000003.11:g.10183725C>G': [1751, 1787]}" ] }, - "execution_count": 29, + "execution_count": 33, "metadata": {}, "output_type": "execute_result" } diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index e0916f5f..7ae4a2e7 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -14,8 +14,8 @@ variant_id query query_type exception_raised message warnings 3718 AR A748V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3725 AR A765T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1307 TP53 ALTERATION protein False unable to normalize ['Unable to tokenize ALTERATION'] -842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" -2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" +842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" +2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" 309 EGFR AUTOCRINE ACTIVATION protein False unable to normalize ['Unable to tokenize AUTOCRINE', 'Unable to tokenize ACTIVATION'] 3510 BCL2L11 Alternative splicing protein False unable to normalize ['Unable to tokenize Alternative', 'Unable to tokenize splicing'] 2844 MITF Amplificatioin protein False unable to normalize ['Unable to tokenize Amplificatioin'] @@ -65,8 +65,8 @@ variant_id query query_type exception_raised message warnings 1635 EGFR E746_A750>IP protein False unable to normalize ['Unable to tokenize E746_A750>IP'] 1433 EGFR E746_S752>A protein False unable to normalize ['Unable to tokenize E746_S752>A'] 1003 EGFR E746_T751>I protein False unable to normalize ['Unable to tokenize E746_T751>I'] -3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" -2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" +3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" +2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" 4005 EWSR1 EWSR1-ERG protein False unable to normalize ['Unable to tokenize EWSR1-ERG'] 1854 EGFR Ex19 del L858R protein False unable to normalize ['Unable to tokenize Ex19', 'Unable to tokenize del'] 457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -75,7 +75,7 @@ variant_id query query_type exception_raised message warnings 92 NRAS G12 protein False unable to normalize ['Unable to tokenize G12'] 77 KRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] 596 NRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] -80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" +80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" 3793 TP53 G177E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3152 GNA11 G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3153 GNAQ G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -151,7 +151,7 @@ variant_id query query_type exception_raised message warnings 1866 EGFR L861 protein False unable to normalize ['Unable to tokenize L861'] 3483 LGR5 LGR5FL protein False unable to normalize ['Unable to tokenize LGR5FL'] 302 PTCH1 LOH protein False unable to normalize ['Unable to tokenize LOH'] -1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" +1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" 638 RB1 M695FS*26 protein False unable to normalize ['Unable to tokenize M695FS*26'] 3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3127 WT1 Mutations protein False unable to normalize ['Unable to tokenize Mutations'] @@ -263,7 +263,7 @@ variant_id query query_type exception_raised message warnings 1546 KIT T417_D419DELTYDINSI protein False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] 3445 BRAF T598I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4074 TFEB TFEB amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" -2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" +2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" 3473 TNC TNC-L protein False unable to normalize ['Unable to tokenize TNC-L'] 3486 TOP2A TOP2A/90 protein False unable to normalize ['Unable to tokenize TOP2A/90'] 590 BIRC3 TRUNCATING MUTATION protein False unable to normalize ['Unable to tokenize TRUNCATING', 'Unable to tokenize MUTATION'] @@ -285,7 +285,7 @@ variant_id query query_type exception_raised message warnings 3721 AR V757A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3722 AR V757I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1310 ERBB2 V773 protein False unable to normalize ['Unable to tokenize V773'] -312 EGFR VIII protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'amplification', 'coding dna silent mutation', 'genomic silent mutation', 'protein substitution', 'coding dna deletion', 'genomic delins', 'protein delins', 'coding dna delins', 'protein deletion', 'genomic insertion', 'silent mutation', 'genomic duplication', 'polypeptide truncation', 'genomic uncertain deletion', 'genomic deletion', 'coding dna insertion', 'genomic deletion range', 'coding dna substitution', 'protein insertion'}""]" +312 EGFR VIII protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" 2728 TP53 W146 protein False unable to normalize ['Unable to tokenize W146'] 1539 PDGFRA W559_R560DELWR protein False unable to normalize ['Unable to tokenize W559_R560DELWR'] 176 AR W742 protein False unable to normalize ['Unable to tokenize W742'] From db0d070a460e1050eca550e71d18e212097b3dae Mon Sep 17 00:00:00 2001 From: korikuzma Date: Wed, 22 Feb 2023 13:15:19 -0500 Subject: [PATCH 08/29] wip: update civic keywords + analysis --- .../civic/all_genomic_variant_queries.csv | 22 + .../civic/all_protein_variant_queries.csv | 208 -------- notebooks/analysis/civic/civic_analysis.ipynb | 290 +++++++---- notebooks/analysis/civic/no_query.csv | 26 +- .../analysis/civic/not_supported_variants.csv | 456 +++++++++++++----- .../civic/unable_to_normalize_queries.csv | 215 +-------- 6 files changed, 545 insertions(+), 672 deletions(-) diff --git a/notebooks/analysis/civic/all_genomic_variant_queries.csv b/notebooks/analysis/civic/all_genomic_variant_queries.csv index 4b12e796..8e14f74b 100644 --- a/notebooks/analysis/civic/all_genomic_variant_queries.csv +++ b/notebooks/analysis/civic/all_genomic_variant_queries.csv @@ -1,10 +1,13 @@ variant_id hgvs_g 2489 NC_000003.11:g.10191648_10191649insC 1988 NC_000003.11:g.10191649A>T +2488 3-10191647-T-G 1986 NC_000003.11:g.10191648G>T 1987 NC_000003.11:g.10191649A>G 2152 NC_000003.11:g.10191719C>A +2024 3-10191656-C-G 2028 NC_000003.11:g.10188221_10188222delinsAT +3194 3-10188222-C-T 820 NC_000003.11:g.10188302G>T 1744 NC_000003.11:g.10188302G>A 2042 NC_000003.11:g.10188302delG @@ -23,15 +26,18 @@ variant_id hgvs_g 1813 NC_000003.11:g.10188219A>G 2154 NC_000003.11:g.10188218G>C 2446 NC_000003.11:g.10188218delG +3133 3-10188218-G-A 2554 NC_000003.11:g.10188234A>G 2533 NC_000003.11:g.10188233G>A 2053 NC_000003.11:g.10188233G>T +3040 3-10188286-C-T 3123 NC_000003.11:g.10191542G>A 2579 NC_000007.13:g.50450370del 2141 NC_000003.11:g.10191596del 2105 NC_000003.11:g.10191596G>A 2126 NC_000003.11:g.10191599_10191600del 2449 NC_000003.11:g.10183806A>G +2514 3-10183806-A-CC 1694 NC_000003.11:g.10183567G>C 1884 NC_000003.11:g.10188257G>T 2524 NC_000003.12:g.10146575_10146601del @@ -78,7 +84,9 @@ variant_id hgvs_g 2491 NC_000003.11:g.10188198G>T 2555 NC_000003.11:g.10188238delG 1850 NC_000003.11:g.10188287G>T +2290 3-10188288-G-A 2059 NC_000003.11:g.10188287G>A +3197 3-10188287-G-C 3247 NC_000003.12:g.10146602_10146612del 2560 NC_000003.11:g.10188288delG 1737 NC_000003.11:g.10183645del @@ -105,13 +113,16 @@ variant_id hgvs_g 2038 NC_000003.11:g.10188296A>G 2150 NC_000003.11:g.10188308A>T 2030 NC_000003.11:g.10188310C>G +2476 3-10188309-T-A 2250 NC_000003.11:g.10188309T>G 1871 NC_000003.11:g.10188309T>C 2246 NC_000003.11:g.10191546T>A 3012 NC_000003.11:g.10191546T>C 1807 NC_000003.11:g.10191545A>G 2329 NC_000003.12:g.10149938delinsAA +3146 3-10183755-T-G 1862 NC_000003.11:g.10191482A>G +2137 3-10191481-GAA-C 1913 NC_000003.11:g.10191593A>T 2147 NC_000003.11:g.10191593A>G 1838 NC_000003.11:g.10183832_10183833delinsGG @@ -121,6 +132,7 @@ variant_id hgvs_g 1822 NC_000003.11:g.10188210T>G 1841 NC_000003.11:g.10188209_10188210insA 1851 NC_000003.11:g.10188238_10188239delinsTT +3066 3-10188239-C-T 2157 NC_000003.11:g.10188240T>C 1886 NC_000003.11:g.10188240T>G 3068 NC_000003.11:g.10188238del @@ -161,6 +173,7 @@ variant_id hgvs_g 2020 NC_000003.11:g.10183785T>C 2308 NC_000003.11:g.10183797T>A 1793 NC_000003.11:g.10183797T>C +2549 3-10183797-T-G 847 NC_000003.11:g.10183531_10183551del 848 NC_000003.11:g.10183534G>A 846 NC_000003.11:g.10183532_10183548del @@ -192,6 +205,7 @@ variant_id hgvs_g 1927 NC_000003.11:g.10183838C>G 1795 NC_000003.11:g.10183840_10183841del 2118 NC_000003.11:g.10183839C>T +2866 3-10188271-A-G 2120 NC_000003.11:g.10188270C>T 2440 NC_000003.11:g.10188270C>G 1928 NC_000003.11:g.10188269C>A @@ -222,10 +236,12 @@ variant_id hgvs_g 2128 NC_000003.11:g.10183822C>G 2069 NC_000003.11:g.10183821C>T 1994 NC_000003.11:g.10188251C>T +1882 3-10188252-A-C 2125 NC_000003.11:g.10188252A>C 1883 NC_000003.11:g.10188290C>T 1781 NC_000003.11:g.10188292_10188293delGC 1845 NC_000003.11:g.10191497C>T +1943 3-10191499-G-C 2880 NC_000003.11:g.10191499G>T 2079 NC_000003.11:g.10191498A>T 1856 NC_000003.11:g.10191498A>G @@ -240,7 +256,9 @@ variant_id hgvs_g 1840 NC_000003.11:g.10183851G>C 1796 NC_000003.11:g.10183868C>T 2143 NC_000003.11:g.10183868delC +2877 3-10188215-A-T 1914 NC_000003.11:g.10188215A>G +2494 3-10188216-G-C 3244 NC_000003.12:g.10146531_10146532insAC 1804 NC_000003.11:g.10191488C>T 2148 NC_000003.11:g.10191488C>A @@ -252,6 +270,7 @@ variant_id hgvs_g 2458 NC_000003.11:g.10191507G>C 1739 NC_000003.11:g.10191507G>A 1747 NC_000003.11:g.10191506C>T +1975 3-10191506-CGGAGC-T 1780 NC_000003.11:g.10191533del 1827 NC_000003.11:g.10191536A>T 1907 NC_000003.11:g.10191535del @@ -281,6 +300,7 @@ variant_id hgvs_g 2161 NC_000003.11:g.10191555C>T 2503 NC_000003.11:g.10191555C>G 2100 NC_000003.11:g.10191555del +3135 3-10183643-T-C 1811 NC_000003.11:g.10183725C>A 2011 NC_000003.11:g.10183724T>G 2130 NC_000003.11:g.10183725delC @@ -298,6 +318,7 @@ variant_id hgvs_g 1757 NC_000003.11:g.10183770G>T 1874 NC_000003.11:g.10183770G>A 1963 NC_000003.11:g.10183769A>C +1792 3-10183771-T-G 2512 NC_000003.11:g.10183770_10183776del 2511 NC_000003.11:g.10183770del 2534 NC_000003.11:g.10183874_10183881delinsCG @@ -400,5 +421,6 @@ variant_id hgvs_g 2480 NC_000003.11:g.10183824A>C 3022 NC_000003.11:g.10191943G>A 615 NC_000009.11:g.5070053_5070054insG +3161 3-10183878-G-A 877 NC_000020.11:g.58903752C>T 731 NC_000003.11:g.37056036G>A diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv index 7136727c..a3610636 100644 --- a/notebooks/analysis/civic/all_protein_variant_queries.csv +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -1,13 +1,6 @@ variant_id gene_name variant_name 748 MLH1 *757L -4188 VHL 10kb Deletion -785 CHEK2 1100DELC -2438 VHL 235 (CAG-TAG) -4186 VHL 2kb Deletion -253 EGFR 3' UTR MUTATION -2367 VHL 3p26.3-25.3 11Mb del 2390 MAP2K1 56_61QKQKVG>R -4187 VHL 5kb Deletion 467 KDR A1065T 807 RUNX1 A107P 3683 JAK1 A1086S @@ -16,11 +9,8 @@ variant_id gene_name variant_name 3544 PTEN A121E 3528 PTEN A126D 3565 PTEN A126S -2727 ERBB2 A129 -2729 TP53 A129 4131 TP53 A138K 3416 TP53 A138V -2979 KRAS A146 905 KRAS A146P 906 KRAS A146T 322 KRAS A146V @@ -68,7 +58,6 @@ variant_id gene_name variant_name 4129 TP53 A86E 4128 TP53 A86T 2939 PRPS1 A87T -1307 TP53 ALTERATION 153 FOXP1 AMPLIFICATION 154 REL AMPLIFICATION 204 NCOA3 AMPLIFICATION @@ -76,8 +65,6 @@ variant_id gene_name variant_name 2655 MYB AMPLIFICATION 842 BRAF APC 2758 BRCA1 ATM -309 EGFR AUTOCRINE ACTIVATION -3510 BCL2L11 Alternative splicing 2844 MITF Amplificatioin 18 CCND1 Amplification 180 AURKA Amplification @@ -130,7 +117,6 @@ variant_id gene_name variant_name 4301 ALK Amplification 4331 ALK C1156Y 627 MAP2K1 C121S -2391 MAP2K1 C121S and G128D 4113 TP53 C124R 3547 PTEN C124S 2840 MAP2K2 C125S @@ -179,19 +165,6 @@ variant_id gene_name variant_name 3756 BAP1 C91S 2789 PIK3CA C971R 3385 CD44 CD44s -3386 CD44 CD44v5 and CD44v6 -3373 CD44 CD44v6 -3388 CD44 CD44v6 and CD44v10 -3387 CD44 CD44v6+/CD44s- -3369 CD44 CD44v8-10 -3368 CD44 CD44v9 -3367 CD44 CD4v8-v10 and CD44v3-v10 -3474 CEACAM1 CEACAM1-L -3475 CEACAM1 CEACAM1-S -1300 TP53 CONSERVED DOMAIN MUT -3408 TEK Cis double mutants -2800 BRAF Class 2 Mutations -2801 BRAF Class 3 Mutations 1660 MET D1010H 1651 MET D1010N 1649 MET D1010Y @@ -221,7 +194,6 @@ variant_id gene_name variant_name 2198 DICER1 D1810Y 2920 PRPS1 D183E 2933 PRPS1 D183H -2734 TP53 D184 1160 ATM D1930V 634 STK11 D194E 806 RUNX1 D198Y @@ -261,7 +233,6 @@ variant_id gene_name variant_name 1547 KIT D579_H580insIDPTQLPYD 977 KIT D579del 4341 FLT3 D593del -2767 BRAF D594 579 BRAF D594A 2799 BRAF D594E 611 BRAF D594G @@ -292,12 +263,10 @@ variant_id gene_name variant_name 2736 KIT D820E 1266 KIT D820G 986 KIT D820Y -437 FLT3 D835 3231 FLT3 D835 & I836 1397 FLT3 D835E 4340 FLT3 D835G 612 FLT3 D835H -613 FLT3 D835H/Y 3075 FLT3 D835I 4339 FLT3 D835N 1302 FLT3 D835V @@ -324,11 +293,8 @@ variant_id gene_name variant_name 3541 PTEN D92H 3542 PTEN D92V 3293 PIK3CA D939G -522 BRAF DEL 485-490 -954 KIT DEL 554-558 3023 PML DELETION (p.K227_T233del) 1663 BRAF DELNVTAP -3509 AIMP2 DX2 2414 MAP2K1 E102_I103delEI 3290 PIK3CB E1051K 3464 EGFR E114K @@ -345,9 +311,7 @@ variant_id gene_name variant_name 2201 DICER1 E1813K 2052 DICER1 E1813Q 3707 AR E198G -572 MTOR E2014K and E2419K 1626 MAP2K1 E203K -2730 TP53 E204 1162 ATM E2187* 3780 TP53 E224K 1601 ABL1 E258D @@ -381,7 +345,6 @@ variant_id gene_name variant_name 2282 DROSHA E518K 103 PIK3CA E542K 933 PIK3CA E542Q -2763 PIK3CA E545 882 PIK3CA E545A 934 PIK3CA E545D 883 PIK3CA E545G @@ -393,11 +356,8 @@ variant_id gene_name variant_name 3328 FLT3 E573Δ 3449 BRAF E585K 1631 FLT3 E588_Y589INSKYFYVDFRE -1544 FLT3 E611_F612INS25 4106 TP53 E68G -2258 EGFR E709A and G719C 1412 EGFR E709K -2256 EGFR E709K and G719A 1413 EGFR E709Q 1577 EGFR E709_T710>D 1572 EGFR E734Q @@ -425,7 +385,6 @@ variant_id gene_name variant_name 3332 CDKN2A E88K 3537 PTEN E91A 3484 FN1 EDB -2670 EPHB2 EPHB2 4005 EWSR1 EWSR1-ERG 1854 EGFR Ex19 del L858R 1158 ATM F1025L @@ -475,10 +434,6 @@ variant_id gene_name variant_name 3341 KRAS G10_A11insG 1673 ERBB4 G1109C 2798 ALK G1128A -76 KRAS G12 -92 NRAS G12 -77 KRAS G12/G13 -596 NRAS G12/G13 171 ALK G1202R 4334 ALK G1269S 3549 PTEN G127E @@ -498,7 +453,6 @@ variant_id gene_name variant_name 425 KRAS G12V 1175 NRAS G12V 1394 HRAS G12V -80 KRAS G13 2873 MAP2K2 G132D 2874 MAP2K2 G132S 895 NRAS G13C @@ -527,7 +481,6 @@ variant_id gene_name variant_name 3153 GNAQ G209P 1060 TP53 G244S 3397 TP53 G244V -2721 TP53 G245 1036 TP53 G245D 879 TP53 G245S 3331 LZTR1 G248R @@ -539,7 +492,6 @@ variant_id gene_name variant_name 3628 BRCA2 G2609D 4144 TP53 G262C 3773 TP53 G262D -2724 TP53 G266 3774 TP53 G266E 1055 TP53 G266R 4122 TP53 G266V @@ -555,7 +507,6 @@ variant_id gene_name variant_name 2283 ACVR1 G328E 1686 ACVR1 G328V 2280 ACVR1 G328W -3587 H3-3A G34 1657 ABL1 G340L 3492 CTNNB1 G34E 3253 CTNNB1 G34R @@ -582,7 +533,6 @@ variant_id gene_name variant_name 2792 BRAF G466E 2222 BRAF G466V 3441 BRAF G468A -2822 BRAF G469 992 BRAF G469A 993 BRAF G469E 840 BRAF G469R @@ -596,14 +546,11 @@ variant_id gene_name variant_name 1678 FBXW7 G579W 2823 BRAF G593D 2690 NTRK1 G595R -3469 NTRK1 G595R and G667S -2768 BRAF G596 694 BRAF G596C 1627 BRAF G596R 1650 BRAF G596V 997 EGFR G598V 2223 BRAF G606E -730 MLH1 G606FS*2 2855 NTRK3 G623E 2691 NTRK3 G623R 3215 FGFR4 G636C @@ -615,19 +562,16 @@ variant_id gene_name variant_name 4030 FGFR3 G697C 2817 FLT3 G697R 3212 FLT3 G697S -718 EGFR G719 999 EGFR G719A 1420 EGFR G719D 134 EGFR G719S 317 EGFR G724S 3346 SPOP G75R 144 DDR2 G774V -1557 ERBB2 G776INSV_G/C 816 ERBB2 G776L 3649 KDR G800D 3650 KDR G800R 4298 FGFR3 G802_X807del -3033 RET G810 3226 RET G810C 1016 EGFR G810S 3227 RET G810S @@ -672,7 +616,6 @@ variant_id gene_name variant_name 4323 CBL H94Y 259 GSTP1 I105V 263 ABCB1 I1145I -527 ALK I1171 4387 ALK I1171N 3371 ALK I1171T 3545 PTEN I122S @@ -700,40 +643,22 @@ variant_id gene_name variant_name 2937 PRPS1 I72V 2259 EGFR I744_K745insKIPVAI 3664 ERBB2 I767M -3232 FLT3 I836 3572 FLT3 I836S 3573 FLT3 I836T 101 PDGFRA I843DEL 755 MSH6 I972F 2744 IKZF1 IKZF1 deletion and mutation -55 FLT3 ITD -3220 FLT3 ITD N676D -3209 FLT3 ITD & D835(V/Y/F/H) -3211 FLT3 ITD & D839G -3284 FLT3 ITD & L601F -3636 FLT3 ITD & N841K -3283 FLT3 ITD & Y597F -3210 FLT3 ITD & Y842C -3219 FLT3 ITD D651G -3221 FLT3 ITD I687F -2785 FLT3 ITD N676K -3218 FLT3 ITD and co-mutations -3208 FLT3 ITD&F691(I/L) 788 CHEK2 IVS2+1G>A 2674 RB1 IVS20, A-G, -2 -257 EZH2 Intron 6 Mutation 1234 PIK3CA K111N 1120 KRAS K117N 3584 TP53 K120E 3596 TP53 K120R 3548 PTEN K125E 3564 PTEN K128N -2722 TP53 K132 3764 TP53 K139E -2988 PCNA K164R LOSS-OF-MODIFICATION 770 MSH2 K172* 2921 PRPS1 K176N -3476 H3-3A K27 2815 H3C2 K27M 3939 H3-3A K27M 3944 H3C14 K27M @@ -746,7 +671,6 @@ variant_id gene_name variant_name 239 NT5C2 K359Q 3745 CTCF K365T 2420 H3-3B K36M -4177 PDGFRA K385 3440 KLF4 K409Q 2775 BRAF K439Q 2776 BRAF K439T @@ -766,7 +690,6 @@ variant_id gene_name variant_name 1272 MAP2K1 K57N 824 MAP2K1 K57T 3455 BRAF K600E -2765 BRAF K601 584 BRAF K601E 733 MLH1 K618DEL 978 KIT K642E @@ -782,7 +705,6 @@ variant_id gene_name variant_name 3166 FLT3 K663Q 114 SF3B1 K666N 565 SF3B1 K700E -508 PMS2 K706FS*19 3490 EGFR K708R 3714 AR K720E 1638 EGFR K745_E749delKELRE @@ -793,12 +715,10 @@ variant_id gene_name variant_name 723 EGFR K757R 1895 EGFR K806E 802 RUNX1 K83E -2964 RUNX1 K90fsX101 3666 PIK3CA K944N 3669 PIK3CA K966E 3472 KRAS KRAS4A 4111 TP53 L111R -2731 TP53 L114 1554 ALK L1152P 307 ALK L1152R 4332 ALK L1152V @@ -826,7 +746,6 @@ variant_id gene_name variant_name 2919 PRPS1 L191F 1078 TP53 L194P 3392 TP53 L194R -2735 TP53 L206 2716 MTOR L2230V 140 DDR2 L239R 1163 ATM L2427P @@ -851,7 +770,6 @@ variant_id gene_name variant_name 3580 TP53 L330P 3581 TP53 L330R 3583 TP53 L344P -1677 FBXW7 L403FS*34 1570 SMO L412F 4313 POLE L424I 4158 POLE L424V @@ -860,14 +778,12 @@ variant_id gene_name variant_name 658 BRAF L505H 2793 BRAF L525R 1191 AKT1 L52R -541 PALB2 L531FS*30 46 ESR1 L536Q 1675 ESR1 L536R 72 KIT L576P 1540 PDGFRA L579M 3705 AR L57Q 3451 BRAF L596V -2766 BRAF L597 583 BRAF L597Q 288 BRAF L597R 582 BRAF L597S @@ -877,7 +793,6 @@ variant_id gene_name variant_name 139 DDR2 L63V 2999 EGFR L718Q 3000 EGFR L718V -2997 EGFR L718V and L718Q 3717 AR L744F 1891 EGFR L747P 1006 EGFR L747_A750>P @@ -901,14 +816,12 @@ variant_id gene_name variant_name 3648 KDR L840F 1473 EGFR L858Q 33 EGFR L858R -1866 EGFR L861 1020 EGFR L861Q 1477 EGFR L861R 496 ERBB2 L866M 2330 ERBB2 L869R 3670 PIK3CA L938* 3483 LGR5 LGR5FL -302 PTCH1 LOH 937 PIK3CA M1043I 2940 PRPS1 M115T 3301 SPOP M117I @@ -935,7 +848,6 @@ variant_id gene_name variant_name 201 KIT M541L 951 KIT M552_W557DEL 3165 FLT3 M664I -638 RB1 M695FS*26 2745 EGFR M766Q 1664 EGFR M766_A767insAI 2213 EGFR M766_A767insASV @@ -991,16 +903,6 @@ variant_id gene_name variant_name 1320 ERBB2 NON-AMPLIFICATION 3740 NTRK1 NTRK1 amplification 2408 BRAF Non-V600 -3297 VHL Null (11 kb 3' deletion) -2016 VHL Null (Complete deletion) -2182 VHL Null (Large deletion) -1947 VHL Null (Partial deletion of 4.6 Kb) -2103 VHL Null (Partial deletion) -3361 VHL Null (del one VHL allele) -3180 VHL Null (deletion) -3188 VHL Null (large 3' deletion) -3262 VHL Null (point mutation codon 238) -1682 ARID1A P1175FS*5 2837 MAP2K1 P124L 82 MAP2K1 P124S 734 MLH1 P138T @@ -1011,7 +913,6 @@ variant_id gene_name variant_name 3765 TP53 P151S 3767 TP53 P152L 3794 TP53 P152T -2732 TP53 P153 3556 PTEN P169H 3785 TP53 P177F 3786 TP53 P177H @@ -1027,7 +928,6 @@ variant_id gene_name variant_name 3318 TP53 P250L 2905 FGFR2 P253R 1218 ERBB3 P262H -2726 TP53 P278 3005 TP53 P278A 1049 TP53 P278S 4315 POLE P286H @@ -1064,7 +964,6 @@ variant_id gene_name variant_name 2217 EGFR P772_H773insH 1667 EGFR P772_H773insYNP 1668 EGFR P772_V774insPHV -41 ERBB2 P780INS 2697 PAX5 P80R 3644 PIM1 P81S 3384 CDKN2A P81T @@ -1077,27 +976,8 @@ variant_id gene_name variant_name 3534 PTEN P96Q 3761 TP53 P98L 3760 TP53 P98S -3235 PRKAR1A PRKAR1A LOH, allelic imbalance 17q 2916 PRPS1 PRPS1 MUTATION -2184 VHL Partial deletion of 0.7 Kb -4200 VHL Partial deletion of 0.8 kb -2185 VHL Partial deletion of 1 Kb -2186 VHL Partial deletion of 1.2 Kb -2187 VHL Partial deletion of 1.5 Kb -3999 VHL Partial deletion of 10 Kb -2188 VHL Partial deletion of 11 Kb -2189 VHL Partial deletion of 12 Kb -3095 VHL Partial deletion of 2 Kb -2191 VHL Partial deletion of 3 Kb -2190 VHL Partial deletion of 3.5 Kb -2492 VHL Partial deletion of 4 Kb -2193 VHL Partial deletion of 7 Kb -2192 VHL Partial deletion of 7.5 Kb -2194 VHL Partial deletion of 8.2 Kb -3466 NTRK1 Point Mutations -3467 NTRK3 Point Mutations 3302 TYK2 Pro1104Ala -220 TERT Promoter Mutation 1159 ATM Q1084* 469 TSC2 Q1178* 260 ABCG2 Q141K @@ -1105,12 +985,9 @@ variant_id gene_name variant_name 4132 TP53 Q144Q 1246 BRCA1 Q1467* 753 MLH1 Q149* -127 U2AF1 Q157P/R 4135 TP53 Q167R 1654 NRAS Q179X 1593 PTCH1 Q17X -507 GNAQ Q209 -558 GNA11 Q209 604 GNAQ Q209P 479 KRAS Q22* 1520 MTOR Q2223K @@ -1133,9 +1010,6 @@ variant_id gene_name variant_name 655 MAP2K1 Q56_V60del 975 KIT Q575L 3326 FLT3 Q575Δ -94 NRAS Q61 -203 KRAS Q61 -2570 HRAS Q61 1104 KRAS Q61E 893 NRAS Q61H 907 KRAS Q61H @@ -1180,14 +1054,11 @@ variant_id gene_name variant_name 636 PTEN R130* 1037 PTEN R130G 899 PTEN R130Q -58 IDH1 R132 59 IDH1 R132C 927 IDH1 R132G 420 IDH1 R132H 880 IDH1 R132L 928 IDH1 R132S -804 RUNX1 R135FSX177 -62 IDH2 R140 4102 TP53 R156H 3795 TP53 R156P 1170 ATM R1575H @@ -1202,7 +1073,6 @@ variant_id gene_name variant_name 814 DDX41 R164W 3470 EGFR R165Q 3971 BRCA1 R1699W -199 IDH2 R172 2364 PREX2 R172I 63 IDH2 R172K 838 PTEN R173C @@ -1217,7 +1087,6 @@ variant_id gene_name variant_name 471 RAD51D R186* 249 XRCC1 R194W 4142 TP53 R196Q -876 GNAS R201 826 GNAS R201C 1319 GNAS R201H 4305 CIC R201W @@ -1238,13 +1107,11 @@ variant_id gene_name variant_name 1252 BRCA2 R2336P 2896 NT5C2 R238W 1156 ATM R2459C -2723 TP53 R248 2403 FGFR3 R248C 3069 NTRK3 R248C 920 TP53 R248L 117 TP53 R248Q 118 TP53 R248W -119 TP53 R249 3400 TP53 R249G 1696 TP53 R249S 556 CDK4 R24C @@ -1253,7 +1120,6 @@ variant_id gene_name variant_name 3618 BRCA2 R2659G 749 MLH1 R265G 3421 TP53 R267Q -2725 TP53 R273 121 TP53 R273C 122 TP53 R273H 918 TP53 R273L @@ -1285,7 +1151,6 @@ variant_id gene_name variant_name 3339 CTCF R377H 727 MSH2 R383* 1680 RAF1 R391W -2597 DICER1 R392fs and E1813D 811 ETV6 R399C 3463 PALB2 R414X 3678 ETV6 R418G @@ -1316,7 +1181,6 @@ variant_id gene_name variant_name 2782 TEK R849W 3411 TEK R849W and R1108* 3376 CDKN2A R87P -32 DNMT3A R882 1125 DNMT3A R882H 1124 DNMT3A R882P 929 PIK3CA R88Q @@ -1327,23 +1191,6 @@ variant_id gene_name variant_name 2790 PIK3CA R975S 3685 PTPRD R995C 3429 ARHGAP35 R997* -332 FNTB RS11623866 -338 MGMT RS16906252 -643 CBLB RS2305035 -421 TERT RS2736100 -699 SH2B3 RS3184504 -779 TYMS RS34743033 -642 MDM2 RS34886328 -482 KIT RS3733542 -641 CDKN2A RS3814960 -331 WEE1 RS3910384 -777 SLCO1B1 RS4149056 -445 ETS2 RS461155 -548 PPP1R15A RS557806 -254 KRAS RS61764370 -255 ERCC5 RS751402 -2334 EGFR Rare Mutation -3222 PIK3CA Rare Mutation 2925 PRPS1 S103I 2926 PRPS1 S103N 2927 PRPS1 S103T @@ -1360,7 +1207,6 @@ variant_id gene_name variant_name 2347 IL7R S185C 1671 ROS1 S1986F 1670 ROS1 S1986Y -2856 ROS1 S1986Y/F 4290 MPL S204P 10 ARAF S214C 2715 MTOR S2215F @@ -1377,11 +1223,9 @@ variant_id gene_name variant_name 4312 SMAD2 S276L 1562 SMO S278I 3709 AR S296R -497 ERBB2 S310F/Y 2946 FGFR2 S320C 3710 AR S334P 3254 CTNNB1 S33F -128 U2AF1 S34Y/F 2281 CTNNB1 S37C 1495 ABL1 S438C 2615 EGFR S442I @@ -1403,10 +1247,8 @@ variant_id gene_name variant_name 1290 JAK3 S61C 1659 KIT S628N 2956 JAK1 S646F -1676 FBXW7 S668FS*39 980 KIT S692L 822 JAK1 S703I -720 EGFR S720 3680 JAK1 S729C 891 EGFR S752_I759delSPKANKEI 3723 AR S759P @@ -1417,24 +1259,16 @@ variant_id gene_name variant_name 2701 CBL S80N 3347 SPOP S80R 3750 ARHGAP35 S866F -451 ABCB1 S893A/T 262 ABCB1 S893T 3652 KDR S925F 3645 PIM1 S97N 536 SULT1E1 SNP -495 MDM2 SNP309 -478 AR SPLICE VARIANT 7 -3108 VHL Single Allele Deletion -3409 TEK T1105N and T1106N 4330 ALK T1151K 1493 ALK T1151M 743 MLH1 T117M 3417 TP53 T125R 3684 TP53 T125T -810 RUNX1 T148HFSX9 3558 PTEN T160I -491 HSPH1 T17 DELETION -2733 TP53 T170 3979 BRCA1 T1720A 2712 MTOR T1977K 3412 MTOR T1977R @@ -1473,13 +1307,6 @@ variant_id gene_name variant_name 1467 EGFR T854A 871 ERBB2 T862A 4074 TFEB TFEB amplification -2669 TGFBR3 TGFBR3 -3473 TNC TNC-L -3486 TOP2A TOP2A/90 -590 BIRC3 TRUNCATING MUTATION -708 BRCA2 TRUNCATING MUTATION -3110 CREBBP TRUNCATING MUTATIONS AND DELETERIOUS SUBSTITUTIONS -223 TP53 Truncating Mutation 729 UGT1A1 UGT1A1*28 732 UGT1A1 UGT1A1*60 701 ERBB3 V104M @@ -1532,7 +1359,6 @@ variant_id gene_name variant_name 957 KIT V555_P573DEL 956 KIT V555_Q556DEL 2695 KIT V555_V559DEL -1316 KIT V559 969 KIT V559A 968 KIT V559D 966 KIT V559DEL @@ -1551,7 +1377,6 @@ variant_id gene_name variant_name 3446 BRAF V599E 3453 BRAF V599K 3454 BRAF V599R -17 BRAF V600 11 BRAF V600D 12 BRAF V600E 1199 BRAF V600G @@ -1575,7 +1400,6 @@ variant_id gene_name variant_name 3722 AR V757I 1578 EGFR V769A 736 EGFR V769_D770insASV -1310 ERBB2 V773 872 ERBB2 V773A 1311 ERBB2 V773L 1892 EGFR V774A @@ -1589,10 +1413,8 @@ variant_id gene_name variant_name 781 ERBB3 V855A 3668 PIK3CA V955G 3001 PIK3CA V955I -312 EGFR VIII 1521 CDKN2A W110* 3691 PTPRB W130R -2728 TP53 W146 1590 PTCH1 W170X 3978 BRCA1 W1718C 1555 BRCA1 W1815X @@ -1614,7 +1436,6 @@ variant_id gene_name variant_name 1292 JAK1 W690* 1591 PTCH1 W712X 1571 EGFR W731L -176 AR W742 2703 CBL W802* 3250 VHL W88* 935 PIK3CA Y1021C @@ -1627,7 +1448,6 @@ variant_id gene_name variant_name 1087 TP53 Y163C 3769 TP53 Y163H 3800 TP53 Y163N -2720 TP53 Y205 3506 ERCC2 Y209C 922 TP53 Y220C 3779 TP53 Y220H @@ -1664,7 +1484,6 @@ variant_id gene_name variant_name 3327 FLT3 Y572Δ 3233 FLT3 Y589D 1630 FLT3 Y591_V592INSVDFREYE -165 EZH2 Y646 3607 EZH2 Y646C 2989 EZH2 Y646F 3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V @@ -1673,8 +1492,6 @@ variant_id gene_name variant_name 2666 EZH2 Y646S 3514 FGFR3 Y647C 2986 STAT5B Y665F -3055 FLT3 Y693 -1672 EGFR Y69FS*11 3499 ERCC2 Y72C 3606 EZH2 Y731D 3724 AR Y763C @@ -1687,33 +1504,8 @@ variant_id gene_name variant_name 3070 FLT3 Y842C 3234 FLT3 Y842H 3535 PTEN Y88C -3410 TEK Y897C and R915C 1642 POLD1 Y956N -3477 ESR2 beta-2 and beta-5 -3511 CD19 delta-ex2, delta-ex5-6 -3487 BRCA1 delta11q -3482 LGR5 delta5 2807 BRCA1 gBRCAm -3323 VEGFA low ratio of VEGF165b/VEGFtotal 3045 VHL p.F76del 3310 HDAC9 p.L33R -3057 GATA1 p.Ser51Alafs*86 3512 BRAF p61BRAF(V600E) -3313 CDKN1A rs1059234 -2787 PRNCR1 rs1456315 -256 KIT rs17084733 -2671 CDKN1A rs1801270 -3314 CDKN1A rs1801270 and rs1059234 -705 GADD45A rs681673 -3703 GALNT14 rs9679162 -4284 VHL t(1;3)(p36.3;p25) -2429 VHL t(1;3)(q32;q13.3) -2876 VHL t(2;3)(q35;q21) -3265 VHL t(3;12)(q13.13;q24.23) -4009 VHL t(3;12)(q13.2;q24.1) -3524 MECOM t(3;21)(q26.2;q22) -3264 VHL t(3;6)(p12.3;q24.3) -4008 VHL t(3;6)(p13;q25.1) -3351 VHL t(3;8)(p13;q24.1) -3508 CD274 v242 -2422 NTRK3 ~DEPRECATED-ETV6-NTRK3 diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 1134d058..288ec8e0 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -132,14 +132,15 @@ " EXPRESSION = \"Expression\"\n", " EPIGENETIC_MODIFICATION = \"Epigenetic Modification\"\n", " FUSION = \"Fusion\"\n", - " FUNCTIONAL_PROTEIN_CONS = \"Functional Protein Consequence\"\n", - " FUNCTIONAL_GENE_FUNC = \"Functional Gene Function\"\n", + " PROTEIN_CONS = \"Protein Consequence\"\n", + " GENE_FUNC = \"Gene Function\"\n", " REARRANGEMENTS = \"Rearrangements\"\n", " COPY_NUMBER = \"Copy Number\"\n", " OTHER = \"Other\"\n", " GENOTYPES_EASY = \"Genotypes Easy\"\n", " GENOTYPES_COMPOUND = \"Genotypes Compound\"\n", " REGION_DEFINED_VAR = \"Region Defined Variant\"\n", + " INCOMPLETE_VAR = \"Incomplete Variants\"\n", " " ] }, @@ -160,7 +161,8 @@ "not_supported = {\n", " VariantCategory.EXPRESSION: {\n", " \"overexpression\", \"expression\", \"underexpression\", \"serum levels\", \n", - " \"transcription levels\"\n", + " \"transcription levels\", \"autocrine activation\", \"tnc-l\", \"promoter mutation\",\n", + " \"top2a/90\", \"low ratio of vegf165b/vegftotal\"\n", " },\n", " VariantCategory.EPIGENETIC_MODIFICATION: {\n", " \"methylation\", \"promoter hypermethylation\", \"promoter methylation\", \n", @@ -169,33 +171,39 @@ " VariantCategory.FUSION: {\n", " \"::\", \"fusion\"\n", " },\n", - " VariantCategory.FUNCTIONAL_PROTEIN_CONS: {\n", - " \"frameshift truncation\", \"frameshift\", \"frame shift\"\n", + " VariantCategory.PROTEIN_CONS: {\n", + " \"frameshift truncation\", \"frameshift\", \"frame shift\", \"fs\",\n", + " \"truncating mutation\", \"1100delc\"\n", " },\n", - " VariantCategory.FUNCTIONAL_GENE_FUNC: {\n", + " VariantCategory.GENE_FUNC: {\n", " \"gain of function\", \"gain-of-function\", \"loss of function\", \"loss-of-function\",\n", - " \"activating mutation\", \"tkd mutation\", \"inactivation\"\n", + " \"activating mutation\", \"tkd mutation\", \"inactivation\", \"null\", \"viii\"\n", " },\n", " VariantCategory.REARRANGEMENTS: {\n", " \"translocation\", \"rearrangement\", \"double ph\", \"alu insertion\", \n", - " \"exon 20 insertion\", \"internal tandem duplications\", \"tandem repeat\"\n", + " \"exon 20 insertion\", \"internal tandem duplications\", \"tandem repeat\",\n", + " \"itd\"\n", " },\n", " VariantCategory.COPY_NUMBER: {\n", " \"copy number\", \"repeat\", \"dup\"\n", " }, \n", " VariantCategory.OTHER: {\n", - " \"cytoplasmic mislocalization\", \"alternative transcript\"\n", + " \"cytoplasmic mislocalization\", \"alternative transcript\", \"rare mutation\",\n", + " \"splice\", \"splicing\", \"ceacam1-l\", \"ceacam1-s\", \"Δ\", \"delta\", \"beta\",\n", + " \"deprecated\", \"point mutations\", \"conserved domain mut\", \"cis double mutants\",\n", + " \"loss-of-modification\", \"gBRCAm\"\n", " },\n", " VariantCategory.GENOTYPES_EASY: {\n", " \"diplotypes\", \"wild type\", \"wildtype\"\n", " },\n", " VariantCategory.GENOTYPES_COMPOUND: {\n", " \"loss of heterozygosity\", \"biallelic inactivation\", \"bi-allelic inactivation\",\n", - " \"homozygosity\", \n", + " \"homozygosity\", \"loh\", \"single allele deletion\"\n", " },\n", " VariantCategory.REGION_DEFINED_VAR: {\n", - " \"deleterious mutation\", \"exon deletion\", \"domain mutation\", \"polymorphism\", \n", - " \"non-p-loop mutation\", \"p-loop mutation\"\n", + " \"deleterious mutation\", \"domain mutation\", \"polymorphism\", \n", + " \"non-p-loop mutation\", \"p-loop mutation\", \"3' utr mutation\", \"alteration\",\n", + " \"t17 deletion\", \"exon\"\n", " }\n", "}" ] @@ -211,7 +219,7 @@ "# One example would be a CIViC Variant whose name has \"c.\" in it. In this case,\n", "# we want the genomic representative. We look at the HGVS expressions to find a genomic\n", "# expression. If there is no genomic HGVS expression, we have no name for a query\n", - "no_query_wf = open(\"no_query.csv\", \"w\")\n", + "no_query_wf = open(\"incomplete_variants.csv\", \"w\")\n", "no_query_wr = csv.writer(no_query_wf, delimiter=\"\\t\")\n", "no_query_wr.writerow([\"variant_id\", \"variant_name\"])\n", "\n", @@ -255,8 +263,20 @@ " v_name = None\n", " v_q_type = None\n", " if \"c.\" in variant.name:\n", + " # Try getting genomic HGVS expression first\n", " v_name = ([expr for expr in variant.hgvs_expressions \n", " if \"g.\" in expr] or [None])[0]\n", + "\n", + " # If there is no genomic HGVS expression, try using gnomad vcf\n", + " if not v_name:\n", + " chromosome = variant.coordinates.chromosome\n", + " pos = variant.coordinates.start\n", + " ref = variant.coordinates.reference_bases\n", + " alt = variant.coordinates.variant_bases\n", + "\n", + " if all((chromosome, pos, ref, alt)):\n", + " v_name = f\"{chromosome}-{pos}-{ref}-{alt}\"\n", + " \n", " v_q_type = \"genomic\"\n", " else:\n", " v_name = variant.name.strip()\n", @@ -272,19 +292,45 @@ " \n", " categories = set()\n", " if v_name_lower in {\"loss\", \"deletion\"}:\n", - " categories.add(VariantCategory.FUNCTIONAL_GENE_FUNC)\n", + " categories.add(VariantCategory.GENE_FUNC)\n", " elif v_name_lower == \"mutation\":\n", " categories.add(VariantCategory.REGION_DEFINED_VAR)\n", " else:\n", " if re.match(r\".*e\\d+-e\\d+\", v_name_lower): # ex: e20-e20\n", " categories.add(VariantCategory.FUSION)\n", + "\n", + " if any((\n", + " \"exon\" in v_name_lower,\n", + " re.match(r\"\\d+kb\\sdeletion\", v_name_lower),\n", + " re.match(r\"partial\\sdeletion\\sof\\s\\d+(.\\d+)?\\skb\", v_name_lower),\n", + " re.match(r\"del\\s\\d+-\\d+\", v_name_lower),\n", + " re.match(r\"\\d+(p|q)\\d+(.\\d+)?-\\d+(.\\d+)?\\s\\d+mb del\", v_name_lower),\n", + " re.match(r\"intron\\s\\d+\\smutation\", v_name_lower)\n", + " )):\n", + " categories.add(VariantCategory.REGION_DEFINED_VAR)\n", " \n", - " if \"exon\" in v_name_lower:\n", - " if {x for x in {\"deletion\", \"mutation\"}}:\n", - " categories.add(VariantCategory.REGION_DEFINED_VAR)\n", - " \n", - " if v_name_lower.endswith(\"fs\"):\n", - " categories.add(VariantCategory.FUNCTIONAL_PROTEIN_CONS)\n", + " if any((\n", + " re.match(r\"t\\(.*\\)\\(.*\\)\", v_name_lower), # ex: t(1;3)(p36.3;p25)\n", + " re.match(r\"\\w\\d+ins$\", v_name_lower) # ex: P780INS\n", + " )): \n", + " categories.add(VariantCategory.REARRANGEMENTS)\n", + "\n", + " if any((\n", + " re.match(r\"^rs\\d+\", v_name_lower),\n", + " re.match(r\"class\\s\\d+\\smutation\", v_name_lower),\n", + " re.match(r\"\\d+\\s\\((c|a|g|t)+-(c|a|g|t)+\\)\", v_name_lower)\n", + " )):\n", + " categories.add(VariantCategory.OTHER)\n", + "\n", + " if re.match(r\"cd\\d+v\\d+\", v_name_lower):\n", + " categories.add(VariantCategory.EXPRESSION)\n", + "\n", + " if any((\n", + " re.match(r\"\\w+\\d+$\", v_name_lower), # ex: V600\n", + " re.match(r\"\\w+\\d+\\w+\\/\\w+$\", v_name_lower), # ex: S893A/T\n", + " re.match(r\"[a-z]+\\d+[a-z]+\\sand\\s[a-z]+\\d+[a-z]+\", v_name_lower), # ex: E2014K and E2419K\n", + " )):\n", + " categories.add(VariantCategory.PROTEIN_CONS)\n", "\n", " for k, v in not_supported.items():\n", " if {x for x in v if x in v_name_lower}:\n", @@ -318,10 +364,33 @@ " try:\n", " variation_norm_resp = await query_handler.normalize_handler.normalize(q)\n", " if not variation_norm_resp.variation_descriptor:\n", - " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, False,\n", - " \"unable to normalize\",\n", - " variation_norm_resp.warnings])\n", - " unable_to_normalize_total[v_q_type] += 1\n", + "\n", + " is_incomplete = False\n", + " if v_q_type == \"protein\" and len(v_name.split()) == 1:\n", + " if \"-\" in v_name:\n", + " # could be {gene}-{gene}\n", + " genes = v_name.split(\"-\")\n", + " else:\n", + " genes = [v_name]\n", + "\n", + " is_genes = True\n", + " for g in genes:\n", + " if query_handler.normalize_handler.gene_normalizer.normalize(v_name).match_type == 0:\n", + " # not a gene \n", + " is_genes = False\n", + " break\n", + "\n", + " if is_genes:\n", + " variant_category_name = VariantCategory.INCOMPLETE_VAR\n", + " variant_category_counts[variant_category_name.name] += 1\n", + " not_supported_wr.writerow([variant.id, gene_name, variant.name, variant_category_name])\n", + " is_incomplete = True\n", + "\n", + " if not is_incomplete:\n", + " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, False,\n", + " \"unable to normalize\",\n", + " variation_norm_resp.warnings])\n", + " unable_to_normalize_total[v_q_type] += 1\n", " else:\n", " can_normalize_total[v_q_type] += 1\n", " except Exception as e:\n", @@ -353,7 +422,7 @@ { "data": { "text/plain": [ - "{'protein': 0, 'genomic': 406}" + "{'protein': 0, 'genomic': 384}" ] }, "execution_count": 10, @@ -373,7 +442,7 @@ { "data": { "text/plain": [ - "406" + "384" ] }, "execution_count": 11, @@ -394,7 +463,7 @@ { "data": { "text/plain": [ - "'11.713791113675708% of the total variants had no queries'" + "'11.08% of the total variants had no queries'" ] }, "execution_count": 12, @@ -403,7 +472,7 @@ } ], "source": [ - "f\"{no_query_total_sum / total_variants * 100}% of the total variants had no queries\"" + "f\"{no_query_total_sum / total_variants * 100:.2f}% of the total variants had no queries\"" ] }, { @@ -431,7 +500,7 @@ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 939'" + "'Total number of variants we do not support in the Variation Normalizer: 1151'" ] }, "execution_count": 14, @@ -460,17 +529,18 @@ { "data": { "text/plain": [ - "{'FUSION': 311,\n", - " 'EXPRESSION': 280,\n", - " 'REGION_DEFINED_VAR': 154,\n", - " 'FUNCTIONAL_GENE_FUNC': 82,\n", - " 'FUNCTIONAL_PROTEIN_CONS': 30,\n", - " 'COPY_NUMBER': 27,\n", + "{'FUSION': 310,\n", + " 'EXPRESSION': 288,\n", + " 'REGION_DEFINED_VAR': 174,\n", + " 'PROTEIN_CONS': 124,\n", + " 'GENE_FUNC': 89,\n", + " 'OTHER': 71,\n", + " 'REARRANGEMENTS': 37,\n", + " 'COPY_NUMBER': 26,\n", " 'EPIGENETIC_MODIFICATION': 15,\n", - " 'REARRANGEMENTS': 15,\n", - " 'OTHER': 14,\n", " 'GENOTYPES_EASY': 7,\n", - " 'GENOTYPES_COMPOUND': 4}" + " 'GENOTYPES_COMPOUND': 6,\n", + " 'INCOMPLETE_VAR': 4}" ] }, "execution_count": 15, @@ -493,52 +563,53 @@ }, { "cell_type": "code", - "execution_count": 34, + "execution_count": 16, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'FUSION': '8.97%',\n", - " 'EXPRESSION': '8.08%',\n", - " 'REGION_DEFINED_VAR': '4.44%',\n", - " 'FUNCTIONAL_GENE_FUNC': '2.37%',\n", - " 'FUNCTIONAL_PROTEIN_CONS': '0.87%',\n", - " 'COPY_NUMBER': '0.78%',\n", + "{'FUSION': '8.94%',\n", + " 'EXPRESSION': '8.31%',\n", + " 'REGION_DEFINED_VAR': '5.02%',\n", + " 'PROTEIN_CONS': '3.58%',\n", + " 'GENE_FUNC': '2.57%',\n", + " 'OTHER': '2.05%',\n", + " 'REARRANGEMENTS': '1.07%',\n", + " 'COPY_NUMBER': '0.75%',\n", " 'EPIGENETIC_MODIFICATION': '0.43%',\n", - " 'REARRANGEMENTS': '0.43%',\n", - " 'OTHER': '0.40%',\n", " 'GENOTYPES_EASY': '0.20%',\n", - " 'GENOTYPES_COMPOUND': '0.12%'}" + " 'GENOTYPES_COMPOUND': '0.17%',\n", + " 'INCOMPLETE_VAR': '0.12%'}" ] }, - "execution_count": 34, + "execution_count": 16, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "{k: f\"{v / 3466 * 100:.2f}%\" for k, v in sorted_variant_cat_counts.items()}" + "{k: f\"{v / total_variants * 100:.2f}%\" for k, v in sorted_variant_cat_counts.items()}" ] }, { "cell_type": "code", - "execution_count": 16, + "execution_count": 17, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 27.091748413156374% of the total variants'" + "'The Variation Normalizer does not support 33.21% of the total variants'" ] }, - "execution_count": 16, + "execution_count": 17, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "f\"The Variation Normalizer does not support {do_not_support_total_sum / total_variants * 100}% of the total variants\"" + "f\"The Variation Normalizer does not support {do_not_support_total_sum / total_variants * 100:.2f}% of the total variants\"" ] }, { @@ -551,16 +622,16 @@ }, { "cell_type": "code", - "execution_count": 17, + "execution_count": 18, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 1718, 'genomic': 403}" + "{'protein': 1510, 'genomic': 425}" ] }, - "execution_count": 17, + "execution_count": 18, "metadata": {}, "output_type": "execute_result" } @@ -571,16 +642,16 @@ }, { "cell_type": "code", - "execution_count": 18, + "execution_count": 19, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "2121" + "1935" ] }, - "execution_count": 18, + "execution_count": 19, "metadata": {}, "output_type": "execute_result" } @@ -592,22 +663,22 @@ }, { "cell_type": "code", - "execution_count": 19, + "execution_count": 20, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer SHOULD be able to normalize 61.19446047316792% of the total variants'" + "'The Variation Normalizer SHOULD be able to normalize 55.83% of the total variants'" ] }, - "execution_count": 19, + "execution_count": 20, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "f\"The Variation Normalizer SHOULD be able to normalize {should_be_able_to_normalize_total_sum / total_variants * 100}% of the total variants\"" + "f\"The Variation Normalizer SHOULD be able to normalize {should_be_able_to_normalize_total_sum / total_variants * 100:.2f}% of the total variants\"" ] }, { @@ -622,16 +693,16 @@ }, { "cell_type": "code", - "execution_count": 20, + "execution_count": 21, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 325, 'genomic': 0}" + "{'protein': 113, 'genomic': 3}" ] }, - "execution_count": 20, + "execution_count": 21, "metadata": {}, "output_type": "execute_result" } @@ -642,16 +713,16 @@ }, { "cell_type": "code", - "execution_count": 21, + "execution_count": 22, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "325" + "116" ] }, - "execution_count": 21, + "execution_count": 22, "metadata": {}, "output_type": "execute_result" } @@ -663,16 +734,16 @@ }, { "cell_type": "code", - "execution_count": 22, + "execution_count": 23, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to normalize 9.376803231390653% of the total variants'" + "'The Variation Normalizer was unable to normalize 3.346797461050202% of the total variants'" ] }, - "execution_count": 22, + "execution_count": 23, "metadata": {}, "output_type": "execute_result" } @@ -693,7 +764,7 @@ }, { "cell_type": "code", - "execution_count": 23, + "execution_count": 24, "metadata": {}, "outputs": [], "source": [ @@ -724,22 +795,22 @@ }, { "cell_type": "code", - "execution_count": 24, + "execution_count": 25, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer found 67 invalid variants (This is 1.933064050778996% of the total variants).'" + "'The Variation Normalizer found 62 invalid variants (This is 1.79% of the total variants).'" ] }, - "execution_count": 24, + "execution_count": 25, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "f\"The Variation Normalizer found {unable_to_find_valid} invalid variants (This is {unable_to_find_valid / total_variants * 100}% of the total variants).\"" + "f\"The Variation Normalizer found {unable_to_find_valid} invalid variants (This is {unable_to_find_valid / total_variants * 100:.2f}% of the total variants).\"" ] }, { @@ -754,42 +825,42 @@ }, { "cell_type": "code", - "execution_count": 25, + "execution_count": 26, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to tokenize 258 variants (7.443739180611655% of the total variants).'" + "'The Variation Normalizer was unable to tokenize 54 variants (1.56% of the total variants).'" ] }, - "execution_count": 25, + "execution_count": 26, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "f\"The Variation Normalizer was unable to tokenize {unable_to_tokenize} variants ({unable_to_tokenize / total_variants * 100}% of the total variants).\"" + "f\"The Variation Normalizer was unable to tokenize {unable_to_tokenize} variants ({unable_to_tokenize / total_variants * 100:.2f}% of the total variants).\"" ] }, { "cell_type": "code", - "execution_count": 26, + "execution_count": 27, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.0% of the total variants).'" + "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.00% of the total variants).'" ] }, - "execution_count": 26, + "execution_count": 27, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "f\"The Variation Normalizer was unable to normalize {other} variants due to other issues (This is {other / total_variants * 100}% of the total variants).\"" + "f\"The Variation Normalizer was unable to normalize {other} variants due to other issues (This is {other / total_variants * 100:.2f}% of the total variants).\"" ] }, { @@ -802,7 +873,7 @@ }, { "cell_type": "code", - "execution_count": 27, + "execution_count": 28, "metadata": {}, "outputs": [ { @@ -811,7 +882,7 @@ "{'protein': 0, 'genomic': 0}" ] }, - "execution_count": 27, + "execution_count": 28, "metadata": {}, "output_type": "execute_result" } @@ -822,7 +893,7 @@ }, { "cell_type": "code", - "execution_count": 28, + "execution_count": 29, "metadata": {}, "outputs": [ { @@ -831,7 +902,7 @@ "0" ] }, - "execution_count": 28, + "execution_count": 29, "metadata": {}, "output_type": "execute_result" } @@ -843,22 +914,22 @@ }, { "cell_type": "code", - "execution_count": 29, + "execution_count": 30, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer raised an exception for 0.0% of the total variants'" + "'The Variation Normalizer raised an exception for 0.00% of the total variants'" ] }, - "execution_count": 29, + "execution_count": 30, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "f\"The Variation Normalizer raised an exception for {exception_total_sum / total_variants * 100}% of the total variants\"" + "f\"The Variation Normalizer raised an exception for {exception_total_sum / total_variants * 100:.2f}% of the total variants\"" ] }, { @@ -871,16 +942,16 @@ }, { "cell_type": "code", - "execution_count": 30, + "execution_count": 31, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 1393, 'genomic': 403}" + "{'protein': 1393, 'genomic': 422}" ] }, - "execution_count": 30, + "execution_count": 31, "metadata": {}, "output_type": "execute_result" } @@ -891,16 +962,16 @@ }, { "cell_type": "code", - "execution_count": 31, + "execution_count": 32, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "1796" + "1815" ] }, - "execution_count": 31, + "execution_count": 32, "metadata": {}, "output_type": "execute_result" } @@ -912,22 +983,22 @@ }, { "cell_type": "code", - "execution_count": 32, + "execution_count": 33, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer successfully normalized 51.81765724177726% of the total variants'" + "'The Variation Normalizer successfully normalized 52.37% of the total variants'" ] }, - "execution_count": 32, + "execution_count": 33, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "f\"The Variation Normalizer successfully normalized {can_normalize_total_sum / total_variants * 100}% of the total variants\"" + "f\"The Variation Normalizer successfully normalized {can_normalize_total_sum / total_variants * 100:.2f}% of the total variants\"" ] }, { @@ -942,7 +1013,7 @@ }, { "cell_type": "code", - "execution_count": 33, + "execution_count": 34, "metadata": {}, "outputs": [ { @@ -952,7 +1023,7 @@ " 'NC_000003.11:g.10183725C>G': [1751, 1787]}" ] }, - "execution_count": 33, + "execution_count": 34, "metadata": {}, "output_type": "execute_result" } @@ -960,6 +1031,13 @@ "source": [ "{k:v for k,v in queries_found.items() if len(v) > 1}" ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [] } ], "metadata": { diff --git a/notebooks/analysis/civic/no_query.csv b/notebooks/analysis/civic/no_query.csv index a583f8cb..cac24878 100644 --- a/notebooks/analysis/civic/no_query.csv +++ b/notebooks/analysis/civic/no_query.csv @@ -4,13 +4,10 @@ variant_id variant_name 4216 W8* (c.23G>A) 4278 Y112C (c.335A>G) 4232 c.212+1G>T -2488 *214G (c.640T>G) 3196 *214Gext*14 (c.640T>G) 2930 106insR (c.316insGCC) 3083 180fs*22 (c.540delC) 3102 3' UTR alteration (c.*1149A>G) -2024 3'UTR alteration (c.639+10C>G) -3194 A122V (c.365C>T) 2482 A149fs (c.446delG) 2023 A149fs (c.449del14-nt) 2962 A28fsX109 (c.83insG) @@ -20,13 +17,11 @@ variant_id variant_name 4181 C162Y(c.486C>G) and L188V(c.562C>G) and P81S(c.241C>T) and F119L(c.357C>G) 4108 C77Sfs*82 (c.230del) 3245 C77fs (c.230del) -3133 D121N (c.361G>A) 3567 D121Y(c.361G>T) 2553 D121_A122del (c.361_366del) 3156 D126Efs* (c.377_378insG) 1918 D126FS (c.375_376insC) 3179 D126N (c.376G>A) / S183L (c.548C>T) -3040 D143= (c.429C>T) 4207 D143= (c.429C>T) and c.340+770T>C 4153 D143Efs*13 (c.429_438del) 1844 D143fs (c.430delG) @@ -34,7 +29,6 @@ variant_id variant_name 3260 D213E (c.639T>G) 2673 D679N (c.2035G>A) 3360 D92V (c.275A>T) -2514 D92fs (c.275delinsCC) 2963 D96H (c.238G>C) 4192 Deletion AND I151S(c.452T>G) 4193 Deletion AND R200W (c.598C>T) @@ -94,9 +88,7 @@ variant_id variant_name 2135 G123fs (c.369_375delGACACAC) 3099 G127_L128delinsGF (c.381_382delinsTT) 4172 G144Dfs*15 (c.431del) -2290 G144E (c.431G>A) 4211 G144R (c.430G>A) and c.340+694_340+711dup -3197 G144R (c.430G>C) 2319 G144fs (c.429_430insGGAC) 2320 G144fs (c.430_433delGGAC) 1949 G144fs (c.432insG) @@ -113,9 +105,7 @@ variant_id variant_name 4093 H191Tfs*11 (c.571del) 2328 H191fs (c.570_574delCCACC) 1965 I109TfsX50 (c.326delT) -2476 I151N (c.452T>A) 2095 I151fs (c.452insA) -3146 I75S (c.224T>G) 3136 I75Sfs*84 (c.223del) 3154 I75Yfs*57 (c.224dupT) 2487 I75del (c.221delTCA) @@ -125,7 +115,6 @@ variant_id variant_name 4088 K159Efs*15 (c.473dup) 4089 K159delinsI* (c.475_476insTTT) 4100 K159fs (c.472_473insT) -2137 K159fs (c.474_476delGAAinsC) 2040 K159fs (c.477_478insCA) 2327 K171fs (c.512_516delAGCCT) 2140 K196fs (c.584_585delAG) @@ -134,7 +123,6 @@ variant_id variant_name 2312 L116fs (c.347delT) 2381 L118P (c.353T>C) and R107G (c.319C>G) 2313 L118fs (c.349_350insG) -3066 L128F (c.382C>T) 1768 L129Q (c.386insAGA) 3172 L129Wfs*?(c.383delT) 1996 L129fs (c.384delT) @@ -162,7 +150,6 @@ variant_id variant_name 2506 L85_E94del (c.254_283del30bp) 1925 L85fs (c.253_254ins38) 2305 L85fs (c.253delC) -2549 L89R (c.266T>G) 3164 L89S (c.265C>T) 3720 M3I(c.3G>A) and M211L (c.631A>C) 2497 M54Gfs*77 (c.160_161delAT) @@ -193,7 +180,6 @@ variant_id variant_name 4264 Null (c.341+1_341–1) 3248 P103H (c.308C>A) 4265 P119L (c.355T>C) -2866 P138= (c.414A>G) 2526 P146Gfs*14 (c.435_436insGG) 3162 P154= (c.462A>G) 4262 P154Qfs4*(c.461delC) @@ -228,12 +214,10 @@ variant_id variant_name 3199 P97L (c.290C>T) and L116P (c.347T>C) 4189 Partial Deletion and P61=( c.183C>G) 2443 Q132Hfs*45 (c.343_395dup) -1882 Q132P (c.395A>C) 2267 Q132fs (c.395_396delAA) 2321 Q145H (c.435G>T) 2155 Q145Tfs* (c.432_433insA) 2525 Q145fs (c.433_437delCAGCC) -1943 Q164H (c.492G>C) 4212 Q164H (c.492G>T) and c.340+574A>T 4094 Q203Gfs*52 (c.607_608del) 2383 Q203TfsX53 (c.606dupA) @@ -251,8 +235,6 @@ variant_id variant_name 3633 R108dup (c.322_324dupCGC) 3656 R108fs (c.322_323insTG) 2537 R108fs (c.323delGC) -2877 R120* (c.358A>T) -2494 R120T (c.359G>C) 2552 R120fs*158 (c.359delG) 2996 R1273* (c.3817C>T) 4096 R161* (c.481C>T) AND R200fs (c.598del) @@ -266,7 +248,6 @@ variant_id variant_name 4239 R167W(c.499C>T) 2486 R167fs (c.501insTTGTCCGT) 1779 R167fs (c.502insTTGTCCGT) -1975 R167fsX4 (c.499_504delinsT) 3187 R176Gfs*26 (c.526del) 3355 R177SFS*22 (c.531_542delinsTC) 4266 R177Tfs*23 (c.530_536del) @@ -290,10 +271,9 @@ variant_id variant_name 3013 R82_V84del (c.243delGCGCGTCGT) 2264 R82_V84del (c.244_252del) 3747 S111I (c.332G>T) -4171 S111N (c.332G>A) +4171 S111N (c.332G>A) 2316 S139fs (c.415insC) 4154 S168Tfs*2 (c.503_513del) -3135 S38P (c.112T>C) 4076 S43_E47del (c.123_137del) 4231 S43_E47dup (c.123_137dup) 4099 S65* (c.189_192del) @@ -303,7 +283,6 @@ variant_id variant_name 2462 S72fs (c.216delC) 4109 S80Ifs*79 (c.239del) 4184 S80N (c.239G>A) and P25L (c.74C>T) -1792 S80R (c.240T>G) 2518 Splice Region (c.340 3_340 10delACGGGCCCinsCG) 4162 Splice Region (c.340+1_340+5del) 4226 Splice Region (c.340+2T>C) @@ -385,7 +364,6 @@ variant_id variant_name 4209 c.340+694_340+711dup 3041 c.340+770T>C 4178 c.340+770T>C and R200W (c.598C>T) -3161 c.340+7G>A 2435 c.341-59_341-14del 4197 c.341-59_341-14del AND F136fs (c.408delT) 4152 c.358ins2 @@ -399,7 +377,7 @@ variant_id variant_name 3039 c.652T>A 3050 c.7089+1del 3051 c.7515+1_2del -2433 c.89c297 +2433 c.89c297 3049 c.902-1G>T 3101 c.–65_–55dup11 4191 c.–65_–55dup11 AND 3' UTR alteration (c.*1149A>G) diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index 5e825d5d..f17e9c68 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -1,7 +1,17 @@ variant_id gene_name variant_name category +4188 VHL 10kb Deletion Region Defined Variant +785 CHEK2 1100DELC Protein Consequence +2438 VHL 235 (CAG-TAG) Other +4186 VHL 2kb Deletion Region Defined Variant 823 EPCAM 3' Exon Deletion Region Defined Variant +253 EGFR 3' UTR MUTATION Region Defined Variant 433 HIF1A 3' UTR Polymorphism Region Defined Variant +2367 VHL 3p26.3-25.3 11Mb del Region Defined Variant 265 TYMS 5' TANDEM REPEAT Other +4187 VHL 5kb Deletion Region Defined Variant +2727 ERBB2 A129 Protein Consequence +2729 TP53 A129 Protein Consequence +2979 KRAS A146 Protein Consequence 3195 VHL A149fs (c.444dup) Copy Number 2144 VHL A56fs (c.166dup) Copy Number 1579 EGFR A767_V769dupASV Copy Number @@ -11,18 +21,23 @@ variant_id gene_name variant_name category 285 BRAF AGK::BRAF Fusion 184 BRAF AKAP9::BRAF Fusion 552 ALK ALK Fusion G1269A Fusion +1307 TP53 ALTERATION Region Defined Variant 2211 BAP1 ALTERNATIVE TRANSCRIPT (ATI) Other +842 BRAF APC Incomplete Variants 2772 NRG1 APP::NRG1 Fusion 3460 AR AR alternative transcripts Other 3622 TFE3 ASPSCR1::TFE3 Fusion 2846 JAK2 ATF7IP::JAK2 Fusion 2632 PDGFRB ATF7IP::PDGFRB Fusion +2758 BRCA1 ATM Incomplete Variants 2178 NRG1 ATP1B1::NRG1 Fusion -1296 CTNNB1 Activating Mutation Functional Gene Function -2649 KRAS Activating Mutation Functional Gene Function -2657 ERBB2 Activating Mutation Functional Gene Function -3737 EZH2 Activating Mutation Functional Gene Function +309 EGFR AUTOCRINE ACTIVATION Expression +1296 CTNNB1 Activating Mutation Gene Function +2649 KRAS Activating Mutation Gene Function +2657 ERBB2 Activating Mutation Gene Function +3737 EZH2 Activating Mutation Gene Function 839 ALK Alternative Transcript (ATI) Other +3510 BCL2L11 Alternative splicing Other 709 BRCA1 Alu insertion Rearrangements 461 PML B2 DOMAIN MUTATION Region Defined Variant 3312 FGFR1 BAG4::FGFR1 Fusion @@ -106,62 +121,90 @@ variant_id gene_name variant_name category 656 BRAF BRAF::CUL1 Fusion 719 BRD4 BRD4::NUTM1 Fusion 532 PALB2 Biallelic Inactivation Other +2391 MAP2K1 C121S and G128D Protein Consequence 2132 VHL C77fs (c.228dup) Copy Number 2769 ALK CAD::ALK Fusion 2630 CBFA2T3 CBFA2T3::GLIS2 Fusion 431 CBFB CBFB::MYH11 Fusion 626 RET CCDC6::RET Fusion 341 CD44 CD44s Expression Expression +3386 CD44 CD44v5 and CD44v6 Expression +3373 CD44 CD44v6 Other +3388 CD44 CD44v6 and CD44v10 Expression +3387 CD44 CD44v6+/CD44s- Expression +3369 CD44 CD44v8-10 Expression +3368 CD44 CD44v9 Other +3367 CD44 CD4v8-v10 and CD44v3-v10 Expression 2771 NRG1 CD74::NRG1 Fusion 465 ROS1 CD74::ROS1 G2032R Fusion 518 ROS1 CD74::ROS1 G2101A Fusion 516 ROS1 CD74::ROS1 L2026M Fusion 517 ROS1 CD74::ROS1 L2155S Fusion +3474 CEACAM1 CEACAM1-L Other +3475 CEACAM1 CEACAM1-S Other 3270 ABL1 CENPC::ABL1 Fusion 3252 CIC CIC::DUX4 Fusion 3987 CIC CIC::LEUTX Fusion 520 ALK CLTC::ALK Fusion 3991 PDGFB COL1A1-PDGFB fusion Fusion 2972 PDGFB COL1A1::PDGFB Fusion +1300 TP53 CONSERVED DOMAIN MUT Other 821 HLA-C COPY-NEUTRAL LOSS OF HETEROZYGOSITY Genotypes Compound 599 CTLA4 CTLA4::CD28 Fusion 2229 BRAF CUX1::BRAF Fusion 447 FGF13 CYTOPLASMIC EXPRESSION Expression 1283 CDK2 CYTOPLASMIC EXPRESSION Expression 360 CDKN1B CYTOPLASMIC MISLOCALIZATION Other +3408 TEK Cis double mutants Other +2800 BRAF Class 2 Mutations Other +2801 BRAF Class 3 Mutations Other 191 EGFR Copy Number Variation Copy Number -746 MLH1 D667FS Functional Protein Consequence +2734 TP53 D184 Protein Consequence +2767 BRAF D594 Protein Consequence +746 MLH1 D667FS Protein Consequence +437 FLT3 D835 Protein Consequence +613 FLT3 D835H/Y Protein Consequence 2394 NTRK1 DDR2::NTRK1 Fusion 2706 DEK DEK::AFF2 Fusion -647 LRP1B DELETION Functional Gene Function +522 BRAF DEL 485-490 Region Defined Variant +954 KIT DEL 554-558 Region Defined Variant +647 LRP1B DELETION Gene Function 2685 DGKH DGKH::ZFAND3 Fusion 242 TP53 DNA Binding Domain Mutation Region Defined Variant 31 PRKACA DNAJB1::PRKACA Fusion 738 DPYD DPYD*13 HOMOZYGOSITY Genotypes Compound 737 DPYD DPYD*2A HOMOZYGOSITY Genotypes Compound 2589 DUX4 DUX4::IGH Fusion +3509 AIMP2 DX2 Protein Consequence 334 VEGFA Decreased Peri-therapeutic Expression Expression 221 TP53 Deleterious Mutation Region Defined Variant -200 IKZF1 Deletion Functional Gene Function -213 PTEN Deletion Functional Gene Function -250 GSTP1 Deletion Functional Gene Function -646 SMAD4 Deletion Functional Gene Function -696 SMARCB1 Deletion Functional Gene Function -856 CREBBP Deletion Functional Gene Function -1982 SUFU Deletion Functional Gene Function -1983 PTCH1 Deletion Functional Gene Function -2654 CDKN2A Deletion Functional Gene Function -2932 VHL Deletion Functional Gene Function -3309 ATRX Deletion Functional Gene Function -4314 CDKN2B Deletion Functional Gene Function -4316 PAX5 Deletion Functional Gene Function -4317 ERG Deletion Functional Gene Function +200 IKZF1 Deletion Gene Function +213 PTEN Deletion Gene Function +250 GSTP1 Deletion Gene Function +646 SMAD4 Deletion Gene Function +696 SMARCB1 Deletion Gene Function +856 CREBBP Deletion Gene Function +1982 SUFU Deletion Gene Function +1983 PTCH1 Deletion Gene Function +2654 CDKN2A Deletion Gene Function +2932 VHL Deletion Gene Function +3309 ATRX Deletion Gene Function +4314 CDKN2B Deletion Gene Function +4316 PAX5 Deletion Gene Function +4317 ERG Deletion Gene Function 526 BCL2L11 Deletion Polymorphism Region Defined Variant 3009 ABL1 Double Ph Rearrangements -725 MLH1 E13fs Functional Protein Consequence -763 MSH2 E28FS Functional Protein Consequence +725 MLH1 E13fs Protein Consequence +572 MTOR E2014K and E2419K Protein Consequence +2730 TP53 E204 Protein Consequence +763 MSH2 E28FS Protein Consequence +2763 PIK3CA E545 Protein Consequence +1544 FLT3 E611_F612INS25 Protein Consequence +2258 EGFR E709A and G719C Protein Consequence +2256 EGFR E709K and G719A Protein Consequence 2847 JAK2 EBF1::JAK2 Fusion 535 PDGFRB EBF1::PDGFRB Fusion +3484 FN1 EDB Incomplete Variants 4294 EGFR EGFR::BRAF Fusion 4283 EGFR EGFR::PPARGC1A Fusion 4282 EGFR EGFR::PURB Fusion @@ -186,6 +229,7 @@ variant_id gene_name variant_name category 4299 NTRK3 EML4::NTRK3 Fusion 2750 ALK EML6::ALK e1-e20 and FBXO11::ALK e1-e20 Fusion 4075 EML6 EML6::NTRK3 Fusion +2670 EPHB2 EPHB2 Protein Consequence 4308 ALK ERC1::ALK Fusion 2575 ABL1 ETV6::ABL1 Fusion 2859 JAK2 ETV6::JAK2 Fusion @@ -356,12 +400,12 @@ variant_id gene_name variant_name category 574 PDGFRA FIP1L1::PDGFRA Fusion 577 PDGFRA FIP1L1::PDGFRA T674I Fusion 2682 ABL1 FOXP1::ABL1 Fusion -667 MEN1 FRAMESHIFT TRUNCATION Functional Protein Consequence +667 MEN1 FRAMESHIFT TRUNCATION Protein Consequence 722 DDIT3 FUS::DDIT3 Fusion 3149 RELA FUSION Fusion -428 MRE11 Frameshift Functional Protein Consequence -2812 MBD4 Frameshift Functional Protein Consequence -124 TSC1 Frameshift Truncation Functional Protein Consequence +428 MRE11 Frameshift Protein Consequence +2812 MBD4 Frameshift Protein Consequence +124 TSC1 Frameshift Truncation Protein Consequence 419 NTRK1 Fusion Fusion 499 ALK Fusion Fusion 524 DUX4 Fusion Fusion @@ -385,37 +429,75 @@ variant_id gene_name variant_name category 3081 RAF1 Fusion Fusion 3315 TP53 Fusion Fusion 3957 RASGRF1 Fusion Fusion +76 KRAS G12 Protein Consequence +92 NRAS G12 Protein Consequence +77 KRAS G12/G13 Protein Consequence +596 NRAS G12/G13 Protein Consequence +80 KRAS G13 Protein Consequence +2721 TP53 G245 Protein Consequence +2724 TP53 G266 Protein Consequence +3587 H3-3A G34 Protein Consequence 3742 KIT G3BP2::KIT Fusion +2822 BRAF G469 Protein Consequence +3469 NTRK1 G595R and G667S Protein Consequence +2768 BRAF G596 Protein Consequence +730 MLH1 G606FS*2 Protein Consequence +718 EGFR G719 Protein Consequence +1557 ERBB2 G776INSV_G/C Protein Consequence 817 ERBB2 G778_P780DUP Copy Number +3033 RET G810 Protein Consequence 3214 JAK2 GOLGA5::JAK2 Fusion 2395 NTRK1 GON4L::NTRK1 Fusion 2770 ROS1 GOPC::ROS1 Fusion -2061 ACVR1 Gain-of-Function Functional Gene Function -2172 MTOR Gain-of-Function Functional Gene Function -1765 EGFR Gain-of-function Functional Gene Function +2061 ACVR1 Gain-of-Function Gene Function +2172 MTOR Gain-of-Function Gene Function +1765 EGFR Gain-of-function Gene Function 2581 NCOA2 HEY1::NCOA2 Fusion 588 ALK HIP1::ALK I1171N Fusion 2969 HMGA2 HMGA2::LPP Fusion 3597 DDR2 High expression Expression -271 ATR I774FS Functional Protein Consequence -765 MSH6 I891FS Functional Protein Consequence +527 ALK I1171 Protein Consequence +271 ATR I774FS Protein Consequence +3232 FLT3 I836 Protein Consequence +765 MSH6 I891FS Protein Consequence 151 BCL2 IGH::BCL2 Fusion 2663 CRLF2 IGH::CRLF2 Fusion 4309 FGFR3 IGHA1::FGFR3 Fusion 2686 IL2RB IL2RB::MYH9 Fusion -218 SMARCA4 INACTIVATING MUTATION Functional Gene Function +218 SMARCA4 INACTIVATING MUTATION Gene Function 2238 BARD1 ISOFORM EXPRESSION Expression -3118 FLT3 ITD & TKD MUTATIONS Functional Gene Function -2895 NUDT15 Inactivating Mutation Functional Gene Function +55 FLT3 ITD Rearrangements +3220 FLT3 ITD N676D Rearrangements +3209 FLT3 ITD & D835(V/Y/F/H) Rearrangements +3211 FLT3 ITD & D839G Rearrangements +3284 FLT3 ITD & L601F Rearrangements +3636 FLT3 ITD & N841K Rearrangements +3118 FLT3 ITD & TKD MUTATIONS Other +3283 FLT3 ITD & Y597F Rearrangements +3210 FLT3 ITD & Y842C Rearrangements +3219 FLT3 ITD D651G Rearrangements +3221 FLT3 ITD I687F Rearrangements +2785 FLT3 ITD N676K Rearrangements +3218 FLT3 ITD and co-mutations Rearrangements +3208 FLT3 ITD&F691(I/L) Rearrangements +2895 NUDT15 Inactivating Mutation Gene Function 67 KIT Internal Duplication Copy Number 2659 FGFR1 Internal Duplication Copy Number 4150 BCOR Internal tandem duplication Copy Number -4229 BCOR Internal tandem duplication (ITD) Copy Number -279 NF2 K159fs Functional Protein Consequence +4229 BCOR Internal tandem duplication (ITD) Other +257 EZH2 Intron 6 Mutation Region Defined Variant +2722 TP53 K132 Protein Consequence +279 NF2 K159fs Protein Consequence 1872 VHL K159fs (c.473dup) Copy Number +2988 PCNA K164R LOSS-OF-MODIFICATION Other +3476 H3-3A K27 Protein Consequence 3010 ABL1 K356dup Copy Number -3273 MSH3 K383fs Functional Protein Consequence -1166 ATM K468FS Functional Protein Consequence +3273 MSH3 K383fs Protein Consequence +4177 PDGFRA K385 Protein Consequence +1166 ATM K468FS Protein Consequence +2765 BRAF K601 Protein Consequence +508 PMS2 K706FS*19 Protein Consequence +2964 RUNX1 K90fsX101 Protein Consequence 3158 NTRK2 KANK1::NTRK2 Fusion 4001 ALK KANK4::ALK Fusion 618 BRAF KIAA1549::BRAF Fusion @@ -432,70 +514,80 @@ variant_id gene_name variant_name category 2210 ASNS KMT2E::ASNS Fusion 3471 KRAS KRAS4A underexpression Expression 413 ERBB2 Kinase Domain Mutation Region Defined Variant +2731 TP53 L114 Protein Consequence 1783 VHL L158fs (c.471dupT) Copy Number +2735 TP53 L206 Protein Consequence 1318 TP53 L3 Domain Mutation Region Defined Variant +1677 FBXW7 L403FS*34 Protein Consequence +541 PALB2 L531FS*30 Protein Consequence +2766 BRAF L597 Protein Consequence +2997 EGFR L718V and L718Q Protein Consequence +1866 EGFR L861 Protein Consequence 1278 NTRK1 LMNA::NTRK1 Fusion 1282 NTRK1 LMNA::NTRK1 G595R and G667C Fusion 3225 NTRK1 LMNA::NTRK1 e11-e10 Fusion 3223 NTRK1 LMNA::NTRK1 e2-e10 Fusion 3224 NTRK1 LMNA::NTRK1 e2-e11 Fusion -564 SMAD4 LOSS Functional Gene Function -809 MSH6 LOSS Functional Gene Function +302 PTCH1 LOH Genotypes Compound +564 SMAD4 LOSS Gene Function +809 MSH6 LOSS Gene Function 3659 SMARCB1 LOSS OF NUCLEAR PROTEIN EXPRESSION Expression -2596 LZTR1 LOSS-OF-FUNCTION Functional Gene Function -2755 FUBP1 LOSS-OF-FUNCTION Functional Gene Function +2596 LZTR1 LOSS-OF-FUNCTION Gene Function +2755 FUBP1 LOSS-OF-FUNCTION Gene Function 2968 HMGA2 LPP::HMGA2 Fusion 3272 ABL1 LSM14A::ABL1 Fusion -23 CCND3 Loss Functional Gene Function -214 PTEN Loss Functional Gene Function -370 MRE11 Loss Functional Gene Function -436 VHL Loss Functional Gene Function -485 STK11 Loss Functional Gene Function -554 CDKN2A Loss Functional Gene Function -555 CDKN2B Loss Functional Gene Function -672 SOX10 Loss Functional Gene Function -697 NF2 Loss Functional Gene Function -698 NF1 Loss Functional Gene Function -808 MSH2 Loss Functional Gene Function -853 NBN Loss Functional Gene Function -925 STK11 Loss Functional Gene Function -1876 CIC Loss Functional Gene Function -1879 ATXN1L Loss Functional Gene Function -1880 ATM Loss Functional Gene Function -2212 BAP1 Loss Functional Gene Function -2230 ASS1 Loss Functional Gene Function -2232 FLCN Loss Functional Gene Function -2234 KMT2D Loss Functional Gene Function -2365 TF Loss Functional Gene Function -2644 SMARCA4 Loss Functional Gene Function -2754 PRKN Loss Functional Gene Function -3202 SMARCB1 Loss Functional Gene Function -4310 KDM6A Loss Functional Gene Function -125 TSC1 Loss-of-function Functional Gene Function -131 BRCA1 Loss-of-function Functional Gene Function -132 BRCA2 Loss-of-function Functional Gene Function -159 VHL Loss-of-function Functional Gene Function -167 KMT2D Loss-of-function Functional Gene Function -230 CHEK2 Loss-of-function Functional Gene Function -236 CDK12 Loss-of-function Functional Gene Function -534 FANCC Loss-of-function Functional Gene Function -601 NOTCH1 Loss-of-function Functional Gene Function -606 RB1 Loss-of-function Functional Gene Function -637 FBXW7 Loss-of-function Functional Gene Function -721 CYP2D6 Loss-of-function Functional Gene Function -819 PTPRB Loss-of-function Functional Gene Function -1293 ARID1A Loss-of-function Functional Gene Function -2171 TSC2 Loss-of-function Functional Gene Function -2219 BARD1 Loss-of-function Functional Gene Function -2235 RASA1 Loss-of-function Functional Gene Function -2236 ATM Loss-of-function Functional Gene Function -2415 SMAD4 Loss-of-function Functional Gene Function -2424 KMT2C Loss-of-function Functional Gene Function -2565 PTPN12 Loss-of-function Functional Gene Function -2705 PBRM1 Loss-of-function Functional Gene Function -3316 MEN1 Loss-of-function Functional Gene Function -4269 ATRX Loss-of-function Functional Gene Function +23 CCND3 Loss Gene Function +214 PTEN Loss Gene Function +370 MRE11 Loss Gene Function +436 VHL Loss Gene Function +485 STK11 Loss Gene Function +554 CDKN2A Loss Gene Function +555 CDKN2B Loss Gene Function +672 SOX10 Loss Gene Function +697 NF2 Loss Gene Function +698 NF1 Loss Gene Function +808 MSH2 Loss Gene Function +853 NBN Loss Gene Function +925 STK11 Loss Gene Function +1876 CIC Loss Gene Function +1879 ATXN1L Loss Gene Function +1880 ATM Loss Gene Function +2212 BAP1 Loss Gene Function +2230 ASS1 Loss Gene Function +2232 FLCN Loss Gene Function +2234 KMT2D Loss Gene Function +2365 TF Loss Gene Function +2644 SMARCA4 Loss Gene Function +2754 PRKN Loss Gene Function +3202 SMARCB1 Loss Gene Function +4310 KDM6A Loss Gene Function +125 TSC1 Loss-of-function Gene Function +131 BRCA1 Loss-of-function Gene Function +132 BRCA2 Loss-of-function Gene Function +159 VHL Loss-of-function Gene Function +167 KMT2D Loss-of-function Gene Function +230 CHEK2 Loss-of-function Gene Function +236 CDK12 Loss-of-function Gene Function +534 FANCC Loss-of-function Gene Function +601 NOTCH1 Loss-of-function Gene Function +606 RB1 Loss-of-function Gene Function +637 FBXW7 Loss-of-function Gene Function +721 CYP2D6 Loss-of-function Gene Function +819 PTPRB Loss-of-function Gene Function +1293 ARID1A Loss-of-function Gene Function +2171 TSC2 Loss-of-function Gene Function +2219 BARD1 Loss-of-function Gene Function +2235 RASA1 Loss-of-function Gene Function +2236 ATM Loss-of-function Gene Function +2415 SMAD4 Loss-of-function Gene Function +2424 KMT2C Loss-of-function Gene Function +2565 PTPN12 Loss-of-function Gene Function +2705 PBRM1 Loss-of-function Gene Function +3316 MEN1 Loss-of-function Gene Function +4269 ATRX Loss-of-function Gene Function +1247 BRCA2 M1R Incomplete Variants 1889 VHL M54fs (c.161dup) Copy Number +638 RB1 M695FS*26 Protein Consequence 2227 BRAF MACF1::BRAF Fusion 3988 MAP3K8 MAP3K8 fusion Fusion 3148 MEF2D MEF2D Rearrangement Rearrangements @@ -601,7 +693,7 @@ variant_id gene_name variant_name category 3203 ATRX Mutation Region Defined Variant 3274 PDGFRA Mutation Region Defined Variant 4018 MS4A1 Mutation Region Defined Variant -28 CEBPA N-TERMINAL FRAME SHIFT Functional Protein Consequence +28 CEBPA N-TERMINAL FRAME SHIFT Protein Consequence 513 ALK NPM::ALK Fusion 2883 BRAF NRF1::BRAF Fusion 2762 NRG1 NRG1 FUSIONS Fusion @@ -618,12 +710,21 @@ variant_id gene_name variant_name category 3111 NUP98 NUP98::KDM5A Fusion 2593 NUP98 NUP98::NSD1 Fusion 2376 ABL1 Non-P-Loop Mutation Region Defined Variant -2082 VHL Null (Partial deletion of Exon 1) Region Defined Variant -1951 VHL Null (Partial deletion of Exon 2) Region Defined Variant -1952 VHL Null (Partial deletion of Exon 3) Region Defined Variant -2083 VHL Null (Partial deletion of Exons 1 & 2) Region Defined Variant -2036 VHL Null (Partial deletion of Exons 2 & 3) Region Defined Variant -3296 VHL Null (rearrangement) Rearrangements +3297 VHL Null (11 kb 3' deletion) Gene Function +2016 VHL Null (Complete deletion) Gene Function +2182 VHL Null (Large deletion) Gene Function +1947 VHL Null (Partial deletion of 4.6 Kb) Gene Function +2082 VHL Null (Partial deletion of Exon 1) Other +1951 VHL Null (Partial deletion of Exon 2) Other +1952 VHL Null (Partial deletion of Exon 3) Other +2083 VHL Null (Partial deletion of Exons 1 & 2) Other +2036 VHL Null (Partial deletion of Exons 2 & 3) Other +2103 VHL Null (Partial deletion) Gene Function +3361 VHL Null (del one VHL allele) Gene Function +3180 VHL Null (deletion) Gene Function +3188 VHL Null (large 3' deletion) Gene Function +3262 VHL Null (point mutation codon 238) Gene Function +3296 VHL Null (rearrangement) Other 2974 JAK2 OFD1::JAK2 Fusion 21 CCND2 OVEREXPRESSION Expression 205 NCOA3 OVEREXPRESSION Expression @@ -644,8 +745,8 @@ variant_id gene_name variant_name category 2917 LYN OVEREXPRESSION Expression 2981 WDR12 OVEREXPRESSION Expression 2982 PLK1 OVEREXPRESSION Expression -3112 PALB2 Oncogenic Mutations (loss of function alterations) Functional Gene Function -3113 ATM Oncogenic Mutations (loss of function alterations) Functional Gene Function +3112 PALB2 Oncogenic Mutations (loss of function alterations) Other +3113 ATM Oncogenic Mutations (loss of function alterations) Other 20 CCND1 Overexpression Expression 24 CCNE1 Overexpression Expression 152 BCL2 Overexpression Expression @@ -757,12 +858,16 @@ variant_id gene_name variant_name category 3324 VEGFA Overexpression of VEGF121 Expression 3325 VEGFA Overexpression of VEGF121 and VEGF110 Expression 2375 ABL1 P-Loop Mutation Region Defined Variant +1682 ARID1A P1175FS*5 Protein Consequence 2495 VHL P138fs (c.410dup) Copy Number -207 NOTCH1 P2514FS Functional Protein Consequence +2732 TP53 P153 Protein Consequence +207 NOTCH1 P2514FS Protein Consequence +2726 TP53 P278 Protein Consequence 2350 CRLF2 P2RY8::CRLF2 Fusion -756 MLH1 P536FS Functional Protein Consequence +756 MLH1 P536FS Protein Consequence 4224 AKT1 P68-C77dup Copy Number -477 BRCA1 P968FS Functional Protein Consequence +41 ERBB2 P780INS Rearrangements +477 BRCA1 P968FS Protein Consequence 3525 ABL2 PAG1::ABL2 Fusion 286 BRAF PAPSS1::BRAF Fusion 2582 FOXO1 PAX3::FOXO1 Fusion @@ -781,21 +886,56 @@ variant_id gene_name variant_name category 3024 PML PML::RARA S214L Fusion 2848 JAK2 PPFIBP1::JAK2 Fusion 617 BRAF PPFIBP2::BRAF Fusion +3235 PRKAR1A PRKAR1A LOH, allelic imbalance 17q Genotypes Compound 22 CCND2 PROMOTER DEMETHYLATION Epigenetic Modification 2254 DBI PROMOTER DEMETHYLATION Epigenetic Modification 711 KLLN PROMOTER METHYLATION Epigenetic Modification 2683 PTK2B PTK2B::KDM6A Fusion 2684 PTK2B PTK2B::STAG2 Fusion +2184 VHL Partial deletion of 0.7 Kb Region Defined Variant +4200 VHL Partial deletion of 0.8 kb Region Defined Variant +2185 VHL Partial deletion of 1 Kb Region Defined Variant +2186 VHL Partial deletion of 1.2 Kb Region Defined Variant +2187 VHL Partial deletion of 1.5 Kb Region Defined Variant +3999 VHL Partial deletion of 10 Kb Region Defined Variant +2188 VHL Partial deletion of 11 Kb Region Defined Variant +2189 VHL Partial deletion of 12 Kb Region Defined Variant +3095 VHL Partial deletion of 2 Kb Region Defined Variant +2191 VHL Partial deletion of 3 Kb Region Defined Variant +2190 VHL Partial deletion of 3.5 Kb Region Defined Variant +2492 VHL Partial deletion of 4 Kb Region Defined Variant +2193 VHL Partial deletion of 7 Kb Region Defined Variant +2192 VHL Partial deletion of 7.5 Kb Region Defined Variant +2194 VHL Partial deletion of 8.2 Kb Region Defined Variant +3466 NTRK1 Point Mutations Other +3467 NTRK3 Point Mutations Other 27 CDKN2A Promoter Hypermethylation Epigenetic Modification 333 PTPRT Promoter Hypermethylation Epigenetic Modification 374 NAPRT Promoter Hypermethylation Epigenetic Modification 85 MGMT Promoter Methylation Epigenetic Modification -744 MLH1 Q426FS Functional Protein Consequence -1105 KRAS Q61FS Functional Protein Consequence +220 TERT Promoter Mutation Expression +127 U2AF1 Q157P/R Protein Consequence +507 GNAQ Q209 Protein Consequence +558 GNA11 Q209 Protein Consequence +744 MLH1 Q426FS Protein Consequence +94 NRAS Q61 Protein Consequence +203 KRAS Q61 Protein Consequence +2570 HRAS Q61 Protein Consequence +1105 KRAS Q61FS Protein Consequence 3029 BCL2 R107_R110dup Copy Number 2021 VHL R108dup (c.322_324dup) Copy Number -735 MLH1 R687FS Functional Protein Consequence -1165 ATM R777FS Functional Protein Consequence +58 IDH1 R132 Protein Consequence +804 RUNX1 R135FSX177 Protein Consequence +62 IDH2 R140 Protein Consequence +199 IDH2 R172 Protein Consequence +876 GNAS R201 Protein Consequence +2723 TP53 R248 Protein Consequence +119 TP53 R249 Protein Consequence +2725 TP53 R273 Protein Consequence +2597 DICER1 R392fs and E1813D Protein Consequence +735 MLH1 R687FS Protein Consequence +1165 ATM R777FS Protein Consequence +32 DNMT3A R882 Protein Consequence 3268 ABL1 RANBP2::ABL1 Fusion 514 ALK RANBP2::ALK Fusion 3116 RBM15 RBM15::MKL1 Fusion @@ -805,19 +945,42 @@ variant_id gene_name variant_name category 3526 ABL2 RCSD1::ABL2 Fusion 3527 CSF1R RCSD1::ABL2 Fusion 2865 JAK2 RFX3::JAK2 Fusion -740 DPYD RS67376798 HOMOZYGOSITY Genotypes Compound +332 FNTB RS11623866 Other +338 MGMT RS16906252 Other +643 CBLB RS2305035 Other +421 TERT RS2736100 Other +699 SH2B3 RS3184504 Other +779 TYMS RS34743033 Other +642 MDM2 RS34886328 Other +482 KIT RS3733542 Other +641 CDKN2A RS3814960 Other +331 WEE1 RS3910384 Other +777 SLCO1B1 RS4149056 Other +445 ETS2 RS461155 Other +548 PPP1R15A RS557806 Other +254 KRAS RS61764370 Other +740 DPYD RS67376798 HOMOZYGOSITY Other +255 ERCC5 RS751402 Other 3126 RUNX1 RUNX1::RUNX1T1 Fusion 1863 EGFR Rare Exon 18-21 Mutation Region Defined Variant +2334 EGFR Rare Mutation Other +3222 PIK3CA Rare Mutation Other 269 ROS1 Rearrangement Rearrangements 2439 VHL Rearrangement Rearrangements 3141 KMT2A Rearrangement Rearrangements 4003 PDGFB Rearrangement Rearrangements 4338 CRLF2 Rearrangement Rearrangements -3080 VHL S139fs Functional Protein Consequence -616 B2M S14FS Functional Protein Consequence -138 NOTCH1 S2275FS Functional Protein Consequence +3080 VHL S139fs Protein Consequence +616 B2M S14FS Protein Consequence +2856 ROS1 S1986Y/F Protein Consequence +138 NOTCH1 S2275FS Protein Consequence +497 ERBB2 S310F/Y Protein Consequence +128 U2AF1 S34Y/F Protein Consequence 3257 AKT1 S473 Phosphorylation Epigenetic Modification +1676 FBXW7 S668FS*39 Protein Consequence +720 EGFR S720 Protein Consequence 1511 EGFR S768_D770dup Copy Number +451 ABCB1 S893A/T Protein Consequence 4253 NTRK1 SCP2::NTRK1 Fusion 2179 NRG1 SDC4::NRG1 Fusion 4251 EGFR SEC61G::EGFR Fusion @@ -829,8 +992,10 @@ variant_id gene_name variant_name category 3986 SH3PXD2A SH3PXD2A::HTRA1 Fusion 2166 NRG1 SLC3A2::NRG1 Fusion 2975 JAK2 SMU1::JAK2 Fusion +495 MDM2 SNP309 Protein Consequence 2976 JAK2 SNX29::JAK2 Fusion 2678 ABL1 SNX2::ABL1 Fusion +478 AR SPLICE VARIANT 7 Other 800 NTRK1 SQSTM1::NTRK1 Fusion 448 SSX1 SS18::SSX1 Fusion 449 SSX2 SS18::SSX2 Fusion @@ -840,6 +1005,11 @@ variant_id gene_name variant_name category 2849 JAK2 STRN3::JAK2 Fusion 2218 ALK STRN::ALK Fusion 2287 NTRK2 STRN::NTRK2 Fusion +3108 VHL Single Allele Deletion Genotypes Compound +3409 TEK T1105N and T1106N Protein Consequence +810 RUNX1 T148HFSX9 Protein Consequence +491 HSPH1 T17 DELETION Region Defined Variant +2733 TP53 T170 Protein Consequence 385 PRKAA2 T172 PHOSPHORYLATION Epigenetic Modification 1298 BRAF T599dup Copy Number 3517 ZNF384 TAF15::ZNF384 Fusion @@ -847,20 +1017,27 @@ variant_id gene_name variant_name category 2862 JAK2 TERF2::JAK2 Fusion 3730 TFE3 TFE3 fusion Fusion 576 ROS1 TFG::ROS1 Fusion -56 FLT3 TKD MUTATION Functional Gene Function -2371 ABL1 TKD MUTATION Functional Gene Function +2669 TGFBR3 TGFBR3 Protein Consequence +56 FLT3 TKD MUTATION Gene Function +2371 ABL1 TKD MUTATION Gene Function 3128 TLX3 TLX3::BCL11B Fusion 195 ERG TMPRSS2::ERG Fusion 707 TMPRSS2 TMPRSS2::ERG Fusion +3473 TNC TNC-L Expression 774 PDGFRA TNKS2::PDGFRA Fusion +3486 TOP2A TOP2A/90 Other 2992 NTRK1 TPM3::NTRK1 Fusion 2850 JAK2 TPR::JAK2 Fusion 3465 NTRK1 TPR::NTRK1 Fusion 287 BRAF TRIM24::BRAF Fusion 2393 NTRK1 TRIM63::NTRK1 Fusion 739 FOS TRUNCATING FUSION Fusion +590 BIRC3 TRUNCATING MUTATION Protein Consequence +708 BRCA2 TRUNCATING MUTATION Protein Consequence +3110 CREBBP TRUNCATING MUTATIONS AND DELETERIOUS SUBSTITUTIONS Protein Consequence 4026 FGFR2 Translocation Rearrangements 4027 FGFR3 Translocation Rearrangements +223 TP53 Truncating Mutation Protein Consequence 417 THBS2 UNDEREXPRESSION Expression 441 LEPR UNDEREXPRESSION Expression 446 KRT18 UNDEREXPRESSION Expression @@ -891,21 +1068,27 @@ variant_id gene_name variant_name category 2409 ERCC1 Underexpression Expression 2412 FGFR2 Underexpression Expression 3459 AR V1 expression Expression -1167 ATM V1268FS Functional Protein Consequence -750 MLH1 V213FS Functional Protein Consequence -137 NOTCH1 V2444FS Functional Protein Consequence -762 MSH2 V273FS Functional Protein Consequence -605 PTEN V317FS Functional Protein Consequence +1167 ATM V1268FS Protein Consequence +750 MLH1 V213FS Protein Consequence +137 NOTCH1 V2444FS Protein Consequence +762 MSH2 V273FS Protein Consequence +605 PTEN V317FS Protein Consequence +1316 KIT V559 Protein Consequence 3461 AR V567es expression Expression +17 BRAF V600 Protein Consequence 362 AR V7 EXPRESSION Expression +1310 ERBB2 V773 Protein Consequence 2159 AR V9 EXPRESSION Expression 3729 TFE3 VCF::TFE3 Fusion 3701 NTRK2 VCL::NTRK2 Fusion 3303 CHD7 VCV000625197, Translocation (t(8;X)(q12.2;p22.13)), CHD7–BEND2 fusion Other 3321 VEGFA VEGF165b Overexpression Expression +312 EGFR VIII Gene Function 4242 EGFR VOPP1::EGFR Fusion 2027 VHL W117fs (c.349dup) Copy Number -87 NPM1 W288FS Functional Protein Consequence +2728 TP53 W146 Protein Consequence +87 NPM1 W288FS Protein Consequence +176 AR W742 Protein Consequence 2299 VHL W88fs (c.261dup) Copy Number 2228 BRAF WASFL::BRAF Fusion 426 BRAF WILD TYPE Genotypes Easy @@ -917,8 +1100,13 @@ variant_id gene_name variant_name category 2590 PIK3CA Wildtype Genotypes Easy 3200 KRAS Wildtype Genotypes Easy 390 EGFR Y1092 PHOSPHORYLATION Epigenetic Modification -245 NF2 Y177fs Functional Protein Consequence +245 NF2 Y177fs Protein Consequence +2720 TP53 Y205 Protein Consequence +165 EZH2 Y646 Protein Consequence +3055 FLT3 Y693 Protein Consequence +1672 EGFR Y69FS*11 Protein Consequence 414 ERBB2 Y772_A775DUP Copy Number +3410 TEK Y897C and R915C Protein Consequence 3578 ABL2 ZC3HAV1::ABL2 Fusion 657 BRAF ZKSCAN1::BRAF Fusion 3269 ABL1 ZMIZ1::ABL1 Fusion @@ -926,15 +1114,39 @@ variant_id gene_name variant_name category 2864 JAK2 ZNF274::JAK2 Fusion 2977 JAK2 ZNF430::JAK2 Fusion 3481 ESR2 alternative transcripts Other +3477 ESR2 beta-2 and beta-5 Other +3511 CD19 delta-ex2, delta-ex5-6 Other +3487 BRCA1 delta11q Other +3482 LGR5 delta5 Other 2349 IL7R exon 6 mutations Region Defined Variant 3752 SSTR5 expression Expression 2226 BRAF intron 10 rearrangement Rearrangements 2225 BRAF intron 9 rearrangement Rearrangements 2814 DRD5 low expression Expression +3323 VEGFA low ratio of VEGF165b/VEGFtotal Expression 2845 HOXD8 mutation Region Defined Variant 3322 VEGFA overexpression of VEGF-Axxxa Expression 2411 SDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC) Copy Number +3057 GATA1 p.Ser51Alafs*86 Protein Consequence 272 CDKN2A p16 Expression Expression -3478 ESR2 underexpression beta-1 Expression -2748 ETV6 ~DEPRECATED-ETV6::NTRK3 FUSION Fusion +3313 CDKN1A rs1059234 Other +2787 PRNCR1 rs1456315 Other +256 KIT rs17084733 Other +2671 CDKN1A rs1801270 Other +3314 CDKN1A rs1801270 and rs1059234 Other +705 GADD45A rs681673 Other +3703 GALNT14 rs9679162 Other +4284 VHL t(1;3)(p36.3;p25) Rearrangements +2429 VHL t(1;3)(q32;q13.3) Rearrangements +2876 VHL t(2;3)(q35;q21) Rearrangements +3265 VHL t(3;12)(q13.13;q24.23) Rearrangements +4009 VHL t(3;12)(q13.2;q24.1) Rearrangements +3524 MECOM t(3;21)(q26.2;q22) Rearrangements +3264 VHL t(3;6)(p12.3;q24.3) Rearrangements +4008 VHL t(3;6)(p13;q25.1) Rearrangements +3351 VHL t(3;8)(p13;q24.1) Rearrangements +3478 ESR2 underexpression beta-1 Other +3508 CD274 v242 Protein Consequence +2422 NTRK3 ~DEPRECATED-ETV6-NTRK3 Other +2748 ETV6 ~DEPRECATED-ETV6::NTRK3 FUSION Other 2718 CCNE1 ｍRNA expression low Expression diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index 7ae4a2e7..a3816a97 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -1,158 +1,68 @@ variant_id query query_type exception_raised message warnings 748 MLH1 *757L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -4188 VHL 10kb Deletion protein False unable to normalize ['Unable to tokenize 10kb', 'Unable to tokenize Deletion'] -785 CHEK2 1100DELC protein False unable to normalize ['Unable to tokenize 1100DELC'] -2438 VHL 235 (CAG-TAG) protein False unable to normalize ['Unable to tokenize 235', 'Unable to tokenize (CAG-TAG)'] -4186 VHL 2kb Deletion protein False unable to normalize ['Unable to tokenize 2kb', 'Unable to tokenize Deletion'] -253 EGFR 3' UTR MUTATION protein False unable to normalize "[""Unable to tokenize 3'"", 'Unable to tokenize MUTATION']" -2367 VHL 3p26.3-25.3 11Mb del protein False unable to normalize ['Unable to tokenize 3p26.3-25.3', 'Unable to tokenize 11Mb', 'Unable to tokenize del'] 2390 MAP2K1 56_61QKQKVG>R protein False unable to normalize ['Unable to tokenize 56_61QKQKVG>R'] -4187 VHL 5kb Deletion protein False unable to normalize ['Unable to tokenize 5kb', 'Unable to tokenize Deletion'] -2727 ERBB2 A129 protein False unable to normalize ['Unable to tokenize A129'] -2729 TP53 A129 protein False unable to normalize ['Unable to tokenize A129'] -2979 KRAS A146 protein False unable to normalize ['Unable to tokenize A146'] 3718 AR A748V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3725 AR A765T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1307 TP53 ALTERATION protein False unable to normalize ['Unable to tokenize ALTERATION'] -842 BRAF APC protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" -2758 BRCA1 ATM protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" -309 EGFR AUTOCRINE ACTIVATION protein False unable to normalize ['Unable to tokenize AUTOCRINE', 'Unable to tokenize ACTIVATION'] -3510 BCL2L11 Alternative splicing protein False unable to normalize ['Unable to tokenize Alternative', 'Unable to tokenize splicing'] 2844 MITF Amplificatioin protein False unable to normalize ['Unable to tokenize Amplificatioin'] -2391 MAP2K1 C121S and G128D protein False unable to normalize ['Unable to tokenize and'] 248 TERT C228T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4004 TERT C250T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3385 CD44 CD44s protein False unable to normalize ['Unable to tokenize CD44s'] -3386 CD44 CD44v5 and CD44v6 protein False unable to normalize ['Unable to tokenize CD44v5', 'Unable to tokenize and', 'Unable to tokenize CD44v6'] -3373 CD44 CD44v6 protein False unable to normalize ['Unable to tokenize CD44v6'] -3388 CD44 CD44v6 and CD44v10 protein False unable to normalize ['Unable to tokenize CD44v6', 'Unable to tokenize and', 'Unable to tokenize CD44v10'] -3387 CD44 CD44v6+/CD44s- protein False unable to normalize ['Unable to tokenize CD44v6+/CD44s-'] -3369 CD44 CD44v8-10 protein False unable to normalize ['Unable to tokenize CD44v8-10'] -3368 CD44 CD44v9 protein False unable to normalize ['Unable to tokenize CD44v9'] -3367 CD44 CD4v8-v10 and CD44v3-v10 protein False unable to normalize ['Unable to tokenize CD4v8-v10', 'Unable to tokenize and', 'Unable to tokenize CD44v3-v10'] -3474 CEACAM1 CEACAM1-L protein False unable to normalize ['Unable to tokenize CEACAM1-L'] -3475 CEACAM1 CEACAM1-S protein False unable to normalize ['Unable to tokenize CEACAM1-S'] -1300 TP53 CONSERVED DOMAIN MUT protein False unable to normalize ['Unable to tokenize CONSERVED', 'Unable to tokenize DOMAIN'] -3408 TEK Cis double mutants protein False unable to normalize ['Unable to tokenize double', 'Unable to tokenize mutants'] -2800 BRAF Class 2 Mutations protein False unable to normalize ['Unable to tokenize Class', 'Unable to tokenize 2', 'Unable to tokenize Mutations'] -2801 BRAF Class 3 Mutations protein False unable to normalize ['Unable to tokenize Class', 'Unable to tokenize 3', 'Unable to tokenize Mutations'] -2734 TP53 D184 protein False unable to normalize ['Unable to tokenize D184'] 3706 AR D221H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3713 AR D528G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2767 BRAF D594 protein False unable to normalize ['Unable to tokenize D594'] 2833 NECTIN4 D594H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -437 FLT3 D835 protein False unable to normalize ['Unable to tokenize D835'] 3231 FLT3 D835 & I836 protein False unable to normalize ['Unable to tokenize D835', 'Unable to tokenize &', 'Unable to tokenize I836'] -613 FLT3 D835H/Y protein False unable to normalize ['Unable to tokenize D835H/Y'] 943 PDGFRA D842_H845DELDIMH protein False unable to normalize ['Unable to tokenize D842_H845DELDIMH'] -522 BRAF DEL 485-490 protein False unable to normalize ['Unable to tokenize DEL', 'Unable to tokenize 485-490'] -954 KIT DEL 554-558 protein False unable to normalize ['Unable to tokenize DEL', 'Unable to tokenize 554-558'] +2514 3-10183806-A-CC genomic False unable to normalize ['Unable to find valid result for classifications: set()'] 3023 PML DELETION (p.K227_T233del) protein False unable to normalize ['Unable to tokenize DELETION', 'Unable to tokenize (p.K227_T233del)'] 1663 BRAF DELNVTAP protein False unable to normalize ['Unable to tokenize DELNVTAP'] -3509 AIMP2 DX2 protein False unable to normalize ['Unable to tokenize DX2'] 2414 MAP2K1 E102_I103delEI protein False unable to normalize ['Unable to tokenize E102_I103delEI'] 2994 MAEA E151INT protein False unable to normalize ['Unable to tokenize E151INT'] 2591 DICER1 E1813 mutations protein False unable to normalize ['Unable to tokenize E1813', 'Unable to tokenize mutations'] 3707 AR E198G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -572 MTOR E2014K and E2419K protein False unable to normalize ['Unable to tokenize and'] -2730 TP53 E204 protein False unable to normalize ['Unable to tokenize E204'] -2763 PIK3CA E545 protein False unable to normalize ['Unable to tokenize E545'] 3328 FLT3 E573Δ protein False unable to normalize ['Unable to tokenize E573Δ'] -1544 FLT3 E611_F612INS25 protein False unable to normalize ['Unable to tokenize E611_F612INS25'] -2258 EGFR E709A and G719C protein False unable to normalize ['Unable to tokenize and'] -2256 EGFR E709K and G719A protein False unable to normalize ['Unable to tokenize and'] 1577 EGFR E709_T710>D protein False unable to normalize ['Unable to tokenize E709_T710>D'] 1635 EGFR E746_A750>IP protein False unable to normalize ['Unable to tokenize E746_A750>IP'] 1433 EGFR E746_S752>A protein False unable to normalize ['Unable to tokenize E746_S752>A'] 1003 EGFR E746_T751>I protein False unable to normalize ['Unable to tokenize E746_T751>I'] -3484 FN1 EDB protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" -2670 EPHB2 EPHB2 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" 4005 EWSR1 EWSR1-ERG protein False unable to normalize ['Unable to tokenize EWSR1-ERG'] 1854 EGFR Ex19 del L858R protein False unable to normalize ['Unable to tokenize Ex19', 'Unable to tokenize del'] 457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3450 BRAF F594L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -76 KRAS G12 protein False unable to normalize ['Unable to tokenize G12'] -92 NRAS G12 protein False unable to normalize ['Unable to tokenize G12'] -77 KRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] -596 NRAS G12/G13 protein False unable to normalize ['Unable to tokenize G12/G13'] -80 KRAS G13 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" 3793 TP53 G177E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3152 GNA11 G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3153 GNAQ G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2721 TP53 G245 protein False unable to normalize ['Unable to tokenize G245'] -2724 TP53 G266 protein False unable to normalize ['Unable to tokenize G266'] -3587 H3-3A G34 protein False unable to normalize ['Unable to tokenize G34'] 3443 BRAF G465A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3441 BRAF G468A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2822 BRAF G469 protein False unable to normalize ['Unable to tokenize G469'] -3469 NTRK1 G595R and G667S protein False unable to normalize ['Unable to tokenize and'] -2768 BRAF G596 protein False unable to normalize ['Unable to tokenize G596'] -730 MLH1 G606FS*2 protein False unable to normalize ['Unable to tokenize G606FS*2'] -718 EGFR G719 protein False unable to normalize ['Unable to tokenize G719'] -1557 ERBB2 G776INSV_G/C protein False unable to normalize ['Unable to tokenize G776INSV_G/C'] 4298 FGFR3 G802_X807del protein False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" -3033 RET G810 protein False unable to normalize ['Unable to tokenize G810'] 4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 protein False unable to normalize ['Unable to tokenize GRCh37/hg19', 'Unable to tokenize 11q14.3(chr11:88960991-88961138)x160'] 3305 TNFRSF17 Gain protein False unable to normalize ['Unable to tokenize Gain'] 3766 PIK3CA H1047L or H1047R protein False unable to normalize ['Unable to tokenize or'] -527 ALK I1171 protein False unable to normalize ['Unable to tokenize I1171'] 3448 BRAF I462S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3232 FLT3 I836 protein False unable to normalize ['Unable to tokenize I836'] 2744 IKZF1 IKZF1 deletion and mutation protein False unable to normalize ['Unable to tokenize deletion', 'Unable to tokenize and', 'Unable to tokenize mutation'] -55 FLT3 ITD protein False unable to normalize ['Unable to tokenize ITD'] -3220 FLT3 ITD N676D protein False unable to normalize ['Unable to tokenize ITD'] -3209 FLT3 ITD & D835(V/Y/F/H) protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &', 'Unable to tokenize D835(V/Y/F/H)'] -3211 FLT3 ITD & D839G protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] -3284 FLT3 ITD & L601F protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] -3636 FLT3 ITD & N841K protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] -3283 FLT3 ITD & Y597F protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] -3210 FLT3 ITD & Y842C protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize &'] -3219 FLT3 ITD D651G protein False unable to normalize ['Unable to tokenize ITD'] -3221 FLT3 ITD I687F protein False unable to normalize ['Unable to tokenize ITD'] -2785 FLT3 ITD N676K protein False unable to normalize ['Unable to tokenize ITD'] -3218 FLT3 ITD and co-mutations protein False unable to normalize ['Unable to tokenize ITD', 'Unable to tokenize and', 'Unable to tokenize co-mutations'] -3208 FLT3 ITD&F691(I/L) protein False unable to normalize ['Unable to tokenize ITD&F691(I/L)'] 788 CHEK2 IVS2+1G>A protein False unable to normalize ['Unable to tokenize IVS2+1G>A'] 2674 RB1 IVS20, A-G, -2 protein False unable to normalize ['Unable to tokenize IVS20,', 'Unable to tokenize A-G,', 'Unable to tokenize -2'] -257 EZH2 Intron 6 Mutation protein False unable to normalize ['Unable to tokenize Intron', 'Unable to tokenize 6', 'Unable to tokenize Mutation'] -2722 TP53 K132 protein False unable to normalize ['Unable to tokenize K132'] -2988 PCNA K164R LOSS-OF-MODIFICATION protein False unable to normalize ['Unable to tokenize LOSS-OF-MODIFICATION'] -3476 H3-3A K27 protein False unable to normalize ['Unable to tokenize K27'] +2137 3-10191481-GAA-C genomic False unable to normalize ['Unable to find valid result for classifications: set()'] 2815 H3C2 K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3939 H3-3A K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3944 H3C14 K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3594 H3-3A K27R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2420 H3-3B K36M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -4177 PDGFRA K385 protein False unable to normalize ['Unable to tokenize K385'] 2696 KIT K550_K559DEL protein False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" 1549 KIT K558NP protein False unable to normalize ['Unable to tokenize K558NP'] 3455 BRAF K600E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2765 BRAF K601 protein False unable to normalize ['Unable to tokenize K601'] -508 PMS2 K706FS*19 protein False unable to normalize ['Unable to tokenize K706FS*19'] 3714 AR K720E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1638 EGFR K745_E749delKELRE protein False unable to normalize ['Unable to tokenize K745_E749delKELRE'] -2964 RUNX1 K90fsX101 protein False unable to normalize ['Unable to tokenize K90fsX101'] 3472 KRAS KRAS4A protein False unable to normalize ['Unable to tokenize KRAS4A'] -2731 TP53 L114 protein False unable to normalize ['Unable to tokenize L114'] 4114 TP53 L139N protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2735 TP53 L206 protein False unable to normalize ['Unable to tokenize L206'] 424 MYD88 L265P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1677 FBXW7 L403FS*34 protein False unable to normalize ['Unable to tokenize L403FS*34'] -541 PALB2 L531FS*30 protein False unable to normalize ['Unable to tokenize L531FS*30'] 1540 PDGFRA L579M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2766 BRAF L597 protein False unable to normalize ['Unable to tokenize L597'] 1309 ERBB2 L638S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2997 EGFR L718V and L718Q protein False unable to normalize ['Unable to tokenize and'] 3717 AR L744F protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1006 EGFR L747_A750>P protein False unable to normalize ['Unable to tokenize L747_A750>P'] 1011 EGFR L747_P753>Q protein False unable to normalize ['Unable to tokenize L747_P753>Q'] 1007 EGFR L747_T751delLREAT protein False unable to normalize ['Unable to tokenize L747_T751delLREAT'] 4221 AKT2 L78_Q79ins protein False unable to normalize ['Unable to tokenize L78_Q79ins'] -1866 EGFR L861 protein False unable to normalize ['Unable to tokenize L861'] 3483 LGR5 LGR5FL protein False unable to normalize ['Unable to tokenize LGR5FL'] -302 PTCH1 LOH protein False unable to normalize ['Unable to tokenize LOH'] -1247 BRCA2 M1R protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" -638 RB1 M695FS*26 protein False unable to normalize ['Unable to tokenize M695FS*26'] 3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3127 WT1 Mutations protein False unable to normalize ['Unable to tokenize Mutations'] 3719 AR N756D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -160,167 +70,48 @@ variant_id query query_type exception_raised message warnings 1320 ERBB2 NON-AMPLIFICATION protein False unable to normalize ['Unable to tokenize NON-AMPLIFICATION'] 3740 NTRK1 NTRK1 amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" 2408 BRAF Non-V600 protein False unable to normalize ['Unable to tokenize Non-V600'] -3297 VHL Null (11 kb 3' deletion) protein False unable to normalize "['Unable to tokenize (11', 'Unable to tokenize kb', ""Unable to tokenize 3'"", 'Unable to tokenize deletion)']" -2016 VHL Null (Complete deletion) protein False unable to normalize ['Unable to tokenize (Complete', 'Unable to tokenize deletion)'] -2182 VHL Null (Large deletion) protein False unable to normalize ['Unable to tokenize (Large', 'Unable to tokenize deletion)'] -1947 VHL Null (Partial deletion of 4.6 Kb) protein False unable to normalize ['Unable to tokenize (Partial', 'Unable to tokenize deletion', 'Unable to tokenize 4.6', 'Unable to tokenize Kb)'] -2103 VHL Null (Partial deletion) protein False unable to normalize ['Unable to tokenize (Partial', 'Unable to tokenize deletion)'] -3361 VHL Null (del one VHL allele) protein False unable to normalize ['Unable to tokenize (del', 'Unable to tokenize one', 'Unable to tokenize allele)'] -3180 VHL Null (deletion) protein False unable to normalize ['Unable to tokenize (deletion)'] -3188 VHL Null (large 3' deletion) protein False unable to normalize "['Unable to tokenize (large', ""Unable to tokenize 3'"", 'Unable to tokenize deletion)']" -3262 VHL Null (point mutation codon 238) protein False unable to normalize ['Unable to tokenize (point', 'Unable to tokenize mutation', 'Unable to tokenize codon', 'Unable to tokenize 238)'] -1682 ARID1A P1175FS*5 protein False unable to normalize ['Unable to tokenize P1175FS*5'] -2732 TP53 P153 protein False unable to normalize ['Unable to tokenize P153'] -2726 TP53 P278 protein False unable to normalize ['Unable to tokenize P278'] 3711 AR P340L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3712 AR P504L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1497 KIT P551_E554delPMYE protein False unable to normalize ['Unable to tokenize P551_E554delPMYE'] -41 ERBB2 P780INS protein False unable to normalize ['Unable to tokenize P780INS'] -3235 PRKAR1A PRKAR1A LOH, allelic imbalance 17q protein False unable to normalize ['Unable to tokenize LOH,', 'Unable to tokenize allelic', 'Unable to tokenize imbalance', 'Unable to tokenize 17q'] 2916 PRPS1 PRPS1 MUTATION protein False unable to normalize ['Unable to tokenize MUTATION'] -2184 VHL Partial deletion of 0.7 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 0.7', 'Unable to tokenize Kb'] -4200 VHL Partial deletion of 0.8 kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 0.8', 'Unable to tokenize kb'] -2185 VHL Partial deletion of 1 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 1', 'Unable to tokenize Kb'] -2186 VHL Partial deletion of 1.2 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 1.2', 'Unable to tokenize Kb'] -2187 VHL Partial deletion of 1.5 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 1.5', 'Unable to tokenize Kb'] -3999 VHL Partial deletion of 10 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 10', 'Unable to tokenize Kb'] -2188 VHL Partial deletion of 11 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 11', 'Unable to tokenize Kb'] -2189 VHL Partial deletion of 12 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 12', 'Unable to tokenize Kb'] -3095 VHL Partial deletion of 2 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 2', 'Unable to tokenize Kb'] -2191 VHL Partial deletion of 3 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 3', 'Unable to tokenize Kb'] -2190 VHL Partial deletion of 3.5 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 3.5', 'Unable to tokenize Kb'] -2492 VHL Partial deletion of 4 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 4', 'Unable to tokenize Kb'] -2193 VHL Partial deletion of 7 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 7', 'Unable to tokenize Kb'] -2192 VHL Partial deletion of 7.5 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 7.5', 'Unable to tokenize Kb'] -2194 VHL Partial deletion of 8.2 Kb protein False unable to normalize ['Unable to tokenize Partial', 'Unable to tokenize deletion', 'Unable to tokenize 8.2', 'Unable to tokenize Kb'] -3466 NTRK1 Point Mutations protein False unable to normalize ['Unable to tokenize Point', 'Unable to tokenize Mutations'] -3467 NTRK3 Point Mutations protein False unable to normalize ['Unable to tokenize Point', 'Unable to tokenize Mutations'] -220 TERT Promoter Mutation protein False unable to normalize ['Unable to tokenize Promoter', 'Unable to tokenize Mutation'] -127 U2AF1 Q157P/R protein False unable to normalize ['Unable to tokenize Q157P/R'] -507 GNAQ Q209 protein False unable to normalize ['Unable to tokenize Q209'] -558 GNA11 Q209 protein False unable to normalize ['Unable to tokenize Q209'] 1643 SCN8A Q225X protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2700 CBL Q294E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3326 FLT3 Q575Δ protein False unable to normalize ['Unable to tokenize Q575Δ'] -94 NRAS Q61 protein False unable to normalize ['Unable to tokenize Q61'] -203 KRAS Q61 protein False unable to normalize ['Unable to tokenize Q61'] -2570 HRAS Q61 protein False unable to normalize ['Unable to tokenize Q61'] 3726 AR Q798E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4000 RAF1 QKI-RAF1 protein False unable to normalize ['Unable to tokenize QKI-RAF1'] -58 IDH1 R132 protein False unable to normalize ['Unable to tokenize R132'] -804 RUNX1 R135FSX177 protein False unable to normalize ['Unable to tokenize R135FSX177'] -62 IDH2 R140 protein False unable to normalize ['Unable to tokenize R140'] -199 IDH2 R172 protein False unable to normalize ['Unable to tokenize R172'] -876 GNAS R201 protein False unable to normalize ['Unable to tokenize R201'] -2723 TP53 R248 protein False unable to normalize ['Unable to tokenize R248'] +1975 3-10191506-CGGAGC-T genomic False unable to normalize ['Unable to find valid result for classifications: set()'] 3069 NTRK3 R248C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -119 TP53 R249 protein False unable to normalize ['Unable to tokenize R249'] -2725 TP53 R273 protein False unable to normalize ['Unable to tokenize R273'] -2597 DICER1 R392fs and E1813D protein False unable to normalize ['Unable to tokenize R392fs', 'Unable to tokenize and'] 3447 BRAF R461I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3716 AR R726L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3411 TEK R849W and R1108* protein False unable to normalize ['Unable to tokenize and'] -32 DNMT3A R882 protein False unable to normalize ['Unable to tokenize R882'] -332 FNTB RS11623866 protein False unable to normalize ['Unable to tokenize RS11623866'] -338 MGMT RS16906252 protein False unable to normalize ['Unable to tokenize RS16906252'] -643 CBLB RS2305035 protein False unable to normalize ['Unable to tokenize RS2305035'] -421 TERT RS2736100 protein False unable to normalize ['Unable to tokenize RS2736100'] -699 SH2B3 RS3184504 protein False unable to normalize ['Unable to tokenize RS3184504'] -779 TYMS RS34743033 protein False unable to normalize ['Unable to tokenize RS34743033'] -642 MDM2 RS34886328 protein False unable to normalize ['Unable to tokenize RS34886328'] -482 KIT RS3733542 protein False unable to normalize ['Unable to tokenize RS3733542'] -641 CDKN2A RS3814960 protein False unable to normalize ['Unable to tokenize RS3814960'] -331 WEE1 RS3910384 protein False unable to normalize ['Unable to tokenize RS3910384'] -777 SLCO1B1 RS4149056 protein False unable to normalize ['Unable to tokenize RS4149056'] -445 ETS2 RS461155 protein False unable to normalize ['Unable to tokenize RS461155'] -548 PPP1R15A RS557806 protein False unable to normalize ['Unable to tokenize RS557806'] -254 KRAS RS61764370 protein False unable to normalize ['Unable to tokenize RS61764370'] -255 ERCC5 RS751402 protein False unable to normalize ['Unable to tokenize RS751402'] -2334 EGFR Rare Mutation protein False unable to normalize ['Unable to tokenize Rare', 'Unable to tokenize Mutation'] -3222 PIK3CA Rare Mutation protein False unable to normalize ['Unable to tokenize Rare', 'Unable to tokenize Mutation'] -2856 ROS1 S1986Y/F protein False unable to normalize ['Unable to tokenize S1986Y/F'] 3674 NOTCH1 S2514A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3676 NOTCH1 S2514E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3677 NOTCH1 S2514P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3709 AR S296R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -497 ERBB2 S310F/Y protein False unable to normalize ['Unable to tokenize S310F/Y'] -128 U2AF1 S34Y/F protein False unable to normalize ['Unable to tokenize S34Y/F'] 3329 FLT3 S574Δ protein False unable to normalize ['Unable to tokenize S574Δ'] -1676 FBXW7 S668FS*39 protein False unable to normalize ['Unable to tokenize S668FS*39'] -720 EGFR S720 protein False unable to normalize ['Unable to tokenize S720'] 891 EGFR S752_I759delSPKANKEI protein False unable to normalize ['Unable to tokenize S752_I759delSPKANKEI'] 3723 AR S759P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -451 ABCB1 S893A/T protein False unable to normalize ['Unable to tokenize S893A/T'] 536 SULT1E1 SNP protein False unable to normalize ['Unable to tokenize SNP'] -495 MDM2 SNP309 protein False unable to normalize ['Unable to tokenize SNP309'] -478 AR SPLICE VARIANT 7 protein False unable to normalize ['Unable to tokenize SPLICE', 'Unable to tokenize VARIANT', 'Unable to tokenize 7'] -3108 VHL Single Allele Deletion protein False unable to normalize ['Unable to tokenize Single', 'Unable to tokenize Allele', 'Unable to tokenize Deletion'] -3409 TEK T1105N and T1106N protein False unable to normalize ['Unable to tokenize and'] -810 RUNX1 T148HFSX9 protein False unable to normalize ['Unable to tokenize T148HFSX9'] -491 HSPH1 T17 DELETION protein False unable to normalize ['Unable to tokenize T17', 'Unable to tokenize DELETION'] -2733 TP53 T170 protein False unable to normalize ['Unable to tokenize T170'] 3675 NOTCH1 T2512A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1546 KIT T417_D419DELTYDINSI protein False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] 3445 BRAF T598I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4074 TFEB TFEB amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" -2669 TGFBR3 TGFBR3 protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" -3473 TNC TNC-L protein False unable to normalize ['Unable to tokenize TNC-L'] -3486 TOP2A TOP2A/90 protein False unable to normalize ['Unable to tokenize TOP2A/90'] -590 BIRC3 TRUNCATING MUTATION protein False unable to normalize ['Unable to tokenize TRUNCATING', 'Unable to tokenize MUTATION'] -708 BRCA2 TRUNCATING MUTATION protein False unable to normalize ['Unable to tokenize TRUNCATING', 'Unable to tokenize MUTATION'] -3110 CREBBP TRUNCATING MUTATIONS AND DELETERIOUS SUBSTITUTIONS protein False unable to normalize ['Unable to tokenize TRUNCATING', 'Unable to tokenize MUTATIONS', 'Unable to tokenize AND', 'Unable to tokenize DELETERIOUS', 'Unable to tokenize SUBSTITUTIONS'] -223 TP53 Truncating Mutation protein False unable to normalize ['Unable to tokenize Truncating', 'Unable to tokenize Mutation'] 729 UGT1A1 UGT1A1*28 protein False unable to normalize ['Unable to tokenize UGT1A1*28'] 732 UGT1A1 UGT1A1*60 protein False unable to normalize ['Unable to tokenize UGT1A1*60'] 2624 TP53 V135A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1316 KIT V559 protein False unable to normalize ['Unable to tokenize V559'] 3452 BRAF V599D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3446 BRAF V599E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3453 BRAF V599K protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3454 BRAF V599R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -17 BRAF V600 protein False unable to normalize ['Unable to tokenize V600'] 2820 BRAF V600_K601>E protein False unable to normalize ['Unable to tokenize V600_K601>E'] 2821 BRAF V600_S602>DT protein False unable to normalize ['Unable to tokenize V600_S602>DT'] 2825 BRAF V601E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3721 AR V757A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3722 AR V757I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1310 ERBB2 V773 protein False unable to normalize ['Unable to tokenize V773'] -312 EGFR VIII protein False unable to normalize "[""Unable to find valid result for classifications: {'genomic substitution', 'genomic insertion', 'genomic silent mutation', 'protein deletion', 'coding dna delins', 'protein insertion', 'coding dna substitution', 'coding dna deletion', 'amplification', 'genomic duplication', 'protein delins', 'polypeptide truncation', 'protein substitution', 'genomic delins', 'coding dna silent mutation', 'genomic deletion', 'silent mutation', 'genomic deletion range', 'coding dna insertion', 'genomic uncertain deletion'}""]" -2728 TP53 W146 protein False unable to normalize ['Unable to tokenize W146'] 1539 PDGFRA W559_R560DELWR protein False unable to normalize ['Unable to tokenize W559_R560DELWR'] -176 AR W742 protein False unable to normalize ['Unable to tokenize W742'] -2720 TP53 Y205 protein False unable to normalize ['Unable to tokenize Y205'] 1542 KIT Y553_W557DELYEVQW protein False unable to normalize ['Unable to tokenize Y553_W557DELYEVQW'] 3327 FLT3 Y572Δ protein False unable to normalize ['Unable to tokenize Y572Δ'] -165 EZH2 Y646 protein False unable to normalize ['Unable to tokenize Y646'] 3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V protein False unable to normalize ['Unable to tokenize Y646F,', 'Unable to tokenize Y646N,', 'Unable to tokenize Y646S,', 'Unable to tokenize Y646H,', 'Unable to tokenize Y646C,', 'Unable to tokenize A682G,'] -3055 FLT3 Y693 protein False unable to normalize ['Unable to tokenize Y693'] -1672 EGFR Y69FS*11 protein False unable to normalize ['Unable to tokenize Y69FS*11'] 3724 AR Y763C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3410 TEK Y897C and R915C protein False unable to normalize ['Unable to tokenize and'] -3477 ESR2 beta-2 and beta-5 protein False unable to normalize ['Unable to tokenize beta-2', 'Unable to tokenize and'] -3511 CD19 delta-ex2, delta-ex5-6 protein False unable to normalize ['Unable to tokenize delta-ex2,', 'Unable to tokenize delta-ex5-6'] -3487 BRCA1 delta11q protein False unable to normalize ['Unable to tokenize delta11q'] -3482 LGR5 delta5 protein False unable to normalize ['Unable to tokenize delta5'] 2807 BRCA1 gBRCAm protein False unable to normalize ['Unable to tokenize gBRCAm'] -3323 VEGFA low ratio of VEGF165b/VEGFtotal protein False unable to normalize ['Unable to tokenize low', 'Unable to tokenize ratio', 'Unable to tokenize VEGF165b/VEGFtotal'] -3057 GATA1 p.Ser51Alafs*86 protein False unable to normalize ['Unable to tokenize p.Ser51Alafs*86'] 3512 BRAF p61BRAF(V600E) protein False unable to normalize ['Unable to tokenize p61BRAF(V600E)'] -3313 CDKN1A rs1059234 protein False unable to normalize ['Unable to tokenize rs1059234'] -2787 PRNCR1 rs1456315 protein False unable to normalize ['Unable to tokenize rs1456315'] -256 KIT rs17084733 protein False unable to normalize ['Unable to tokenize rs17084733'] -2671 CDKN1A rs1801270 protein False unable to normalize ['Unable to tokenize rs1801270'] -3314 CDKN1A rs1801270 and rs1059234 protein False unable to normalize ['Unable to tokenize rs1801270', 'Unable to tokenize and', 'Unable to tokenize rs1059234'] -705 GADD45A rs681673 protein False unable to normalize ['Unable to tokenize rs681673'] -3703 GALNT14 rs9679162 protein False unable to normalize ['Unable to tokenize rs9679162'] -4284 VHL t(1;3)(p36.3;p25) protein False unable to normalize ['Unable to tokenize t(1;3)(p36.3;p25)'] -2429 VHL t(1;3)(q32;q13.3) protein False unable to normalize ['Unable to tokenize t(1;3)(q32;q13.3)'] -2876 VHL t(2;3)(q35;q21) protein False unable to normalize ['Unable to tokenize t(2;3)(q35;q21)'] -3265 VHL t(3;12)(q13.13;q24.23) protein False unable to normalize ['Unable to tokenize t(3;12)(q13.13;q24.23)'] -4009 VHL t(3;12)(q13.2;q24.1) protein False unable to normalize ['Unable to tokenize t(3;12)(q13.2;q24.1)'] -3524 MECOM t(3;21)(q26.2;q22) protein False unable to normalize ['Unable to tokenize t(3;21)(q26.2;q22)'] -3264 VHL t(3;6)(p12.3;q24.3) protein False unable to normalize ['Unable to tokenize t(3;6)(p12.3;q24.3)'] -4008 VHL t(3;6)(p13;q25.1) protein False unable to normalize ['Unable to tokenize t(3;6)(p13;q25.1)'] -3351 VHL t(3;8)(p13;q24.1) protein False unable to normalize ['Unable to tokenize t(3;8)(p13;q24.1)'] -3508 CD274 v242 protein False unable to normalize ['Unable to tokenize v242'] -2422 NTRK3 ~DEPRECATED-ETV6-NTRK3 protein False unable to normalize ['Unable to tokenize ~DEPRECATED-ETV6-NTRK3'] From 517bcc14f4f1d0e6475c017eb4d41fea10eb517f Mon Sep 17 00:00:00 2001 From: korikuzma Date: Wed, 22 Feb 2023 17:10:46 -0500 Subject: [PATCH 09/29] wip: more updates to keywords for civic --- .../civic/all_protein_variant_queries.csv | 20 -- notebooks/analysis/civic/civic_analysis.ipynb | 251 +++++++++--------- .../civic/{no_query.csv => no_queries.csv} | 0 .../analysis/civic/not_supported_variants.csv | 24 +- .../civic/unable_to_normalize_queries.csv | 22 -- 5 files changed, 151 insertions(+), 166 deletions(-) rename notebooks/analysis/civic/{no_query.csv => no_queries.csv} (100%) diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv index a3610636..234c193a 100644 --- a/notebooks/analysis/civic/all_protein_variant_queries.csv +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -1,6 +1,5 @@ variant_id gene_name variant_name 748 MLH1 *757L -2390 MAP2K1 56_61QKQKVG>R 467 KDR A1065T 807 RUNX1 A107P 3683 JAK1 A1086S @@ -263,7 +262,6 @@ variant_id gene_name variant_name 2736 KIT D820E 1266 KIT D820G 986 KIT D820Y -3231 FLT3 D835 & I836 1397 FLT3 D835E 4340 FLT3 D835G 612 FLT3 D835H @@ -294,7 +292,6 @@ variant_id gene_name variant_name 3542 PTEN D92V 3293 PIK3CA D939G 3023 PML DELETION (p.K227_T233del) -1663 BRAF DELNVTAP 2414 MAP2K1 E102_I103delEI 3290 PIK3CB E1051K 3464 EGFR E114K @@ -306,7 +303,6 @@ variant_id gene_name variant_name 4 AKT1 E17K 1227 AKT3 E17K 3585 TP53 E180K -2591 DICER1 E1813 mutations 2200 DICER1 E1813G 2201 DICER1 E1813K 2052 DICER1 E1813Q @@ -353,7 +349,6 @@ variant_id gene_name variant_name 884 PIK3CA E545V 2709 PIK3CA E545X 955 KIT E554D -3328 FLT3 E573Δ 3449 BRAF E585K 1631 FLT3 E588_Y589INSKYFYVDFRE 4106 TP53 E68G @@ -386,7 +381,6 @@ variant_id gene_name variant_name 3537 PTEN E91A 3484 FN1 EDB 4005 EWSR1 EWSR1-ERG -1854 EGFR Ex19 del L858R 1158 ATM F1025L 3082 BCL2 F104I 3028 BCL2 F104L @@ -582,7 +576,6 @@ variant_id gene_name variant_name 4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 3305 TNFRSF17 Gain 1151 PIK3CA H1047L -3766 PIK3CA H1047L or H1047R 107 PIK3CA H1047R 2710 PIK3CA H1047X 938 PIK3CA H1047Y @@ -647,9 +640,6 @@ variant_id gene_name variant_name 3573 FLT3 I836T 101 PDGFRA I843DEL 755 MSH6 I972F -2744 IKZF1 IKZF1 deletion and mutation -788 CHEK2 IVS2+1G>A -2674 RB1 IVS20, A-G, -2 1234 PIK3CA K111N 1120 KRAS K117N 3584 TP53 K120E @@ -717,7 +707,6 @@ variant_id gene_name variant_name 802 RUNX1 K83E 3666 PIK3CA K944N 3669 PIK3CA K966E -3472 KRAS KRAS4A 4111 TP53 L111R 1554 ALK L1152P 307 ALK L1152R @@ -855,7 +844,6 @@ variant_id gene_name variant_name 3588 RIT1 M90I 113 RET M918T 3435 MYOD1 MYOD1 L122R -3127 WT1 Mutations 3438 PIK3CA N1044K 2924 PRPS1 N114D 2843 MAP2K2 N126D @@ -900,8 +888,6 @@ variant_id gene_name variant_name 1899 EGFR N842S 873 ERBB2 N857S 3532 PTEN N94I -1320 ERBB2 NON-AMPLIFICATION -3740 NTRK1 NTRK1 amplification 2408 BRAF Non-V600 2837 MAP2K1 P124L 82 MAP2K1 P124S @@ -1009,7 +995,6 @@ variant_id gene_name variant_name 83 MAP2K1 Q56P 655 MAP2K1 Q56_V60del 975 KIT Q575L -3326 FLT3 Q575Δ 1104 KRAS Q61E 893 NRAS Q61H 907 KRAS Q61H @@ -1179,7 +1164,6 @@ variant_id gene_name variant_name 2741 EGFR R832L 863 PDGFRA R841K 2782 TEK R849W -3411 TEK R849W and R1108* 3376 CDKN2A R87P 1125 DNMT3A R882H 1124 DNMT3A R882P @@ -1243,7 +1227,6 @@ variant_id gene_name variant_name 453 EGFR S492R 1206 KIT S501_A502INSAY 1589 SMO S533N -3329 FLT3 S574Δ 1290 JAK3 S61C 1659 KIT S628N 2956 JAK1 S646F @@ -1306,7 +1289,6 @@ variant_id gene_name variant_name 1463 EGFR T847I 1467 EGFR T854A 871 ERBB2 T862A -4074 TFEB TFEB amplification 729 UGT1A1 UGT1A1*28 732 UGT1A1 UGT1A1*60 701 ERBB3 V104M @@ -1481,7 +1463,6 @@ variant_id gene_name variant_name 953 KIT Y553_K558DEL 1542 KIT Y553_W557DELYEVQW 1548 KIT Y570_L576DEL -3327 FLT3 Y572Δ 3233 FLT3 Y589D 1630 FLT3 Y591_V592INSVDFREYE 3607 EZH2 Y646C @@ -1505,7 +1486,6 @@ variant_id gene_name variant_name 3234 FLT3 Y842H 3535 PTEN Y88C 1642 POLD1 Y956N -2807 BRCA1 gBRCAm 3045 VHL p.F76del 3310 HDAC9 p.L33R 3512 BRAF p61BRAF(V600E) diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 288ec8e0..0d7eb93d 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -12,18 +12,9 @@ }, { "cell_type": "code", - "execution_count": 1, + "execution_count": 63, "metadata": {}, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "/Users/kxk102/.local/share/virtualenvs/variation-normalization-KPVKcmjd/lib/python3.10/site-packages/python_jsonschema_objects/__init__.py:49: UserWarning: Schema version http://json-schema.org/draft-07/schema not recognized. Some keywords and features may not be supported.\n", - " warnings.warn(\n" - ] - } - ], + "outputs": [], "source": [ "import logging\n", "from enum import Enum\n", @@ -40,7 +31,7 @@ }, { "cell_type": "code", - "execution_count": 2, + "execution_count": 64, "metadata": {}, "outputs": [ { @@ -49,7 +40,7 @@ "True" ] }, - "execution_count": 2, + "execution_count": 64, "metadata": {}, "output_type": "execute_result" } @@ -62,7 +53,7 @@ }, { "cell_type": "code", - "execution_count": 3, + "execution_count": 65, "metadata": {}, "outputs": [], "source": [ @@ -71,7 +62,7 @@ }, { "cell_type": "code", - "execution_count": 4, + "execution_count": 66, "metadata": {}, "outputs": [], "source": [ @@ -81,7 +72,7 @@ }, { "cell_type": "code", - "execution_count": 5, + "execution_count": 67, "metadata": {}, "outputs": [ { @@ -90,7 +81,7 @@ "True" ] }, - "execution_count": 5, + "execution_count": 67, "metadata": {}, "output_type": "execute_result" } @@ -101,7 +92,7 @@ }, { "cell_type": "code", - "execution_count": 6, + "execution_count": 68, "metadata": {}, "outputs": [ { @@ -110,7 +101,7 @@ "'Total Number of variants in CIViC: 3466'" ] }, - "execution_count": 6, + "execution_count": 68, "metadata": {}, "output_type": "execute_result" } @@ -123,7 +114,7 @@ }, { "cell_type": "code", - "execution_count": 7, + "execution_count": 69, "metadata": {}, "outputs": [], "source": [ @@ -154,7 +145,7 @@ }, { "cell_type": "code", - "execution_count": 8, + "execution_count": 70, "metadata": {}, "outputs": [], "source": [ @@ -182,16 +173,17 @@ " VariantCategory.REARRANGEMENTS: {\n", " \"translocation\", \"rearrangement\", \"double ph\", \"alu insertion\", \n", " \"exon 20 insertion\", \"internal tandem duplications\", \"tandem repeat\",\n", - " \"itd\"\n", + " \"itd\", \"D842_H845DELDIMH\"\n", " },\n", " VariantCategory.COPY_NUMBER: {\n", - " \"copy number\", \"repeat\", \"dup\"\n", + " \"copy number\", \"repeat\", \"dup\", \"non-amplification\"\n", " }, \n", " VariantCategory.OTHER: {\n", " \"cytoplasmic mislocalization\", \"alternative transcript\", \"rare mutation\",\n", - " \"splice\", \"splicing\", \"ceacam1-l\", \"ceacam1-s\", \"Δ\", \"delta\", \"beta\",\n", + " \"splice\", \"splicing\", \"ceacam1-l\", \"ceacam1-s\", \"δ\", # this is really Δ for upper case\n", + " \"delta\", \"beta\", \"ivs2+1g>a\", \"ivs20, a-g, -2\",\n", " \"deprecated\", \"point mutations\", \"conserved domain mut\", \"cis double mutants\",\n", - " \"loss-of-modification\", \"gBRCAm\"\n", + " \"loss-of-modification\", \"gbrcam\", \"kras4a\", \"kras4b\",\n", " },\n", " VariantCategory.GENOTYPES_EASY: {\n", " \"diplotypes\", \"wild type\", \"wildtype\"\n", @@ -203,14 +195,17 @@ " VariantCategory.REGION_DEFINED_VAR: {\n", " \"deleterious mutation\", \"domain mutation\", \"polymorphism\", \n", " \"non-p-loop mutation\", \"p-loop mutation\", \"3' utr mutation\", \"alteration\",\n", - " \"t17 deletion\", \"exon\"\n", + " \"t17 deletion\", \"exon\", \"ex19 del l858r\"\n", + " },\n", + " VariantCategory.INCOMPLETE_VAR: {\n", + " \"delnvtap\"\n", " }\n", "}" ] }, { "cell_type": "code", - "execution_count": 9, + "execution_count": 71, "metadata": {}, "outputs": [], "source": [ @@ -219,7 +214,7 @@ "# One example would be a CIViC Variant whose name has \"c.\" in it. In this case,\n", "# we want the genomic representative. We look at the HGVS expressions to find a genomic\n", "# expression. If there is no genomic HGVS expression, we have no name for a query\n", - "no_query_wf = open(\"incomplete_variants.csv\", \"w\")\n", + "no_query_wf = open(\"no_queries.csv\", \"w\")\n", "no_query_wr = csv.writer(no_query_wf, delimiter=\"\\t\")\n", "no_query_wr.writerow([\"variant_id\", \"variant_name\"])\n", "\n", @@ -293,32 +288,39 @@ " categories = set()\n", " if v_name_lower in {\"loss\", \"deletion\"}:\n", " categories.add(VariantCategory.GENE_FUNC)\n", - " elif v_name_lower == \"mutation\":\n", + " elif v_name_lower in {\"mutation\", \"mutations\"}:\n", " categories.add(VariantCategory.REGION_DEFINED_VAR)\n", " else:\n", + " if v_name_lower.endswith(\"deletion and mutation\"):\n", + " v_name_split = v_name.split()\n", + " if len(v_name_split) == 4:\n", + " if query_handler.normalize_handler.gene_normalizer.normalize(v_name_split[0]).match_type > 0:\n", + " categories.add(VariantCategory.REGION_DEFINED_VAR) \n", + " \n", " if re.match(r\".*e\\d+-e\\d+\", v_name_lower): # ex: e20-e20\n", " categories.add(VariantCategory.FUSION)\n", "\n", " if any((\n", " \"exon\" in v_name_lower,\n", - " re.match(r\"\\d+kb\\sdeletion\", v_name_lower),\n", - " re.match(r\"partial\\sdeletion\\sof\\s\\d+(.\\d+)?\\skb\", v_name_lower),\n", - " re.match(r\"del\\s\\d+-\\d+\", v_name_lower),\n", - " re.match(r\"\\d+(p|q)\\d+(.\\d+)?-\\d+(.\\d+)?\\s\\d+mb del\", v_name_lower),\n", - " re.match(r\"intron\\s\\d+\\smutation\", v_name_lower)\n", + " re.match(r\"\\d+kb\\sdeletion\", v_name_lower), # ex: 10kb Deletion\n", + " re.match(r\"partial\\sdeletion\\sof\\s\\d+(.\\d+)?\\skb\", v_name_lower), # ex: Partial deletion of 0.7 Kb\n", + " re.match(r\"del\\s\\d+-\\d+\", v_name_lower), # ex: DEL 485-490\n", + " re.match(r\"\\d+(p|q)\\d+(.\\d+)?-\\d+(.\\d+)?\\s\\d+mb del\", v_name_lower), # ex: 3p26.3-25.3 11Mb del\n", + " re.match(r\"intron\\s\\d+\\smutation\", v_name_lower) # ex: Intron 6 Mutation\n", " )):\n", " categories.add(VariantCategory.REGION_DEFINED_VAR)\n", " \n", " if any((\n", " re.match(r\"t\\(.*\\)\\(.*\\)\", v_name_lower), # ex: t(1;3)(p36.3;p25)\n", - " re.match(r\"\\w\\d+ins$\", v_name_lower) # ex: P780INS\n", + " re.match(r\"\\w\\d+ins$\", v_name_lower), # ex: P780INS\n", + " re.match(r\"\\d+_\\d+\\w+>\\w+\", v_name_lower), # ex: 56_61QKQKVG>R\n", " )): \n", " categories.add(VariantCategory.REARRANGEMENTS)\n", "\n", " if any((\n", - " re.match(r\"^rs\\d+\", v_name_lower),\n", - " re.match(r\"class\\s\\d+\\smutation\", v_name_lower),\n", - " re.match(r\"\\d+\\s\\((c|a|g|t)+-(c|a|g|t)+\\)\", v_name_lower)\n", + " re.match(r\"^rs\\d+\", v_name_lower), # ex: RS11623866\n", + " re.match(r\"class\\s\\d+\\smutation\", v_name_lower), # ex: Class 3 Mutation\n", + " re.match(r\"\\d+\\s\\((c|a|g|t)+-(c|a|g|t)+\\)\", v_name_lower) # ex: 235 (CAG-TAG)\n", " )):\n", " categories.add(VariantCategory.OTHER)\n", "\n", @@ -328,10 +330,19 @@ " if any((\n", " re.match(r\"\\w+\\d+$\", v_name_lower), # ex: V600\n", " re.match(r\"\\w+\\d+\\w+\\/\\w+$\", v_name_lower), # ex: S893A/T\n", - " re.match(r\"[a-z]+\\d+[a-z]+\\sand\\s[a-z]+\\d+[a-z]+\", v_name_lower), # ex: E2014K and E2419K\n", + " re.match(r\"[a-z]+\\d+[a-z]+\\sand\\s[a-z]+\\d+[a-z|*]+\", v_name_lower), # ex: E2014K and E2419K, R849W and R1108*\n", + " re.match(r\"[a-z]+\\d+\\s&\\s[a-z]+\\d+\", v_name_lower), # ex: D835 & I836\n", + " re.match(r\"[a-z]+\\d+[a-z]+\\sor\\s[a-z]+\\d+[a-z]+\", v_name_lower), # ex: H1047L or H1047R\n", + " re.match(r\"\\w+\\d+\\smutations\", v_name_lower), # ex: E1813 mutations\n", " )):\n", " categories.add(VariantCategory.PROTEIN_CONS)\n", "\n", + " if any((\n", + " re.match(r\"^\\w+\\samplification\", v_name_lower), # ex: {gene} amplification\n", + " re.match(r\"GRCh3(7|8)\\/hg\\d+\\s\\w+.?\\d*\\(chr\\w+:\\d+-\\d+\\)x\\d+\", v_name_lower), # ex: GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160\n", + " )): \n", + " categories.add(VariantCategory.COPY_NUMBER)\n", + "\n", " for k, v in not_supported.items():\n", " if {x for x in v if x in v_name_lower}:\n", " categories.add(k)\n", @@ -364,24 +375,25 @@ " try:\n", " variation_norm_resp = await query_handler.normalize_handler.normalize(q)\n", " if not variation_norm_resp.variation_descriptor:\n", - "\n", " is_incomplete = False\n", " if v_q_type == \"protein\" and len(v_name.split()) == 1:\n", " if \"-\" in v_name:\n", " # could be {gene}-{gene}\n", " genes = v_name.split(\"-\")\n", + " variant_category_name = VariantCategory.FUSION\n", " else:\n", + " # Just a gene name\n", " genes = [v_name]\n", + " variant_category_name = VariantCategory.INCOMPLETE_VAR\n", "\n", " is_genes = True\n", " for g in genes:\n", - " if query_handler.normalize_handler.gene_normalizer.normalize(v_name).match_type == 0:\n", + " if query_handler.normalize_handler.gene_normalizer.normalize(g).match_type == 0:\n", " # not a gene \n", " is_genes = False\n", " break\n", "\n", " if is_genes:\n", - " variant_category_name = VariantCategory.INCOMPLETE_VAR\n", " variant_category_counts[variant_category_name.name] += 1\n", " not_supported_wr.writerow([variant.id, gene_name, variant.name, variant_category_name])\n", " is_incomplete = True\n", @@ -416,7 +428,7 @@ }, { "cell_type": "code", - "execution_count": 10, + "execution_count": 72, "metadata": {}, "outputs": [ { @@ -425,7 +437,7 @@ "{'protein': 0, 'genomic': 384}" ] }, - "execution_count": 10, + "execution_count": 72, "metadata": {}, "output_type": "execute_result" } @@ -436,7 +448,7 @@ }, { "cell_type": "code", - "execution_count": 11, + "execution_count": 73, "metadata": {}, "outputs": [ { @@ -445,7 +457,7 @@ "384" ] }, - "execution_count": 11, + "execution_count": 73, "metadata": {}, "output_type": "execute_result" } @@ -457,7 +469,7 @@ }, { "cell_type": "code", - "execution_count": 12, + "execution_count": 74, "metadata": {}, "outputs": [ { @@ -466,7 +478,7 @@ "'11.08% of the total variants had no queries'" ] }, - "execution_count": 12, + "execution_count": 74, "metadata": {}, "output_type": "execute_result" } @@ -485,7 +497,7 @@ }, { "cell_type": "code", - "execution_count": 13, + "execution_count": 75, "metadata": {}, "outputs": [], "source": [ @@ -494,16 +506,16 @@ }, { "cell_type": "code", - "execution_count": 14, + "execution_count": 76, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 1151'" + "'Total number of variants we do not support in the Variation Normalizer: 1173'" ] }, - "execution_count": 14, + "execution_count": 76, "metadata": {}, "output_type": "execute_result" } @@ -523,27 +535,27 @@ }, { "cell_type": "code", - "execution_count": 15, + "execution_count": 77, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'FUSION': 310,\n", - " 'EXPRESSION': 288,\n", - " 'REGION_DEFINED_VAR': 174,\n", - " 'PROTEIN_CONS': 124,\n", + "{'FUSION': 312,\n", + " 'EXPRESSION': 287,\n", + " 'REGION_DEFINED_VAR': 177,\n", + " 'PROTEIN_CONS': 128,\n", " 'GENE_FUNC': 89,\n", - " 'OTHER': 71,\n", - " 'REARRANGEMENTS': 37,\n", - " 'COPY_NUMBER': 26,\n", + " 'OTHER': 80,\n", + " 'REARRANGEMENTS': 38,\n", + " 'COPY_NUMBER': 29,\n", " 'EPIGENETIC_MODIFICATION': 15,\n", " 'GENOTYPES_EASY': 7,\n", " 'GENOTYPES_COMPOUND': 6,\n", - " 'INCOMPLETE_VAR': 4}" + " 'INCOMPLETE_VAR': 5}" ] }, - "execution_count": 15, + "execution_count": 77, "metadata": {}, "output_type": "execute_result" } @@ -563,27 +575,27 @@ }, { "cell_type": "code", - "execution_count": 16, + "execution_count": 78, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'FUSION': '8.94%',\n", - " 'EXPRESSION': '8.31%',\n", - " 'REGION_DEFINED_VAR': '5.02%',\n", - " 'PROTEIN_CONS': '3.58%',\n", + "{'FUSION': '9.00%',\n", + " 'EXPRESSION': '8.28%',\n", + " 'REGION_DEFINED_VAR': '5.11%',\n", + " 'PROTEIN_CONS': '3.69%',\n", " 'GENE_FUNC': '2.57%',\n", - " 'OTHER': '2.05%',\n", - " 'REARRANGEMENTS': '1.07%',\n", - " 'COPY_NUMBER': '0.75%',\n", + " 'OTHER': '2.31%',\n", + " 'REARRANGEMENTS': '1.10%',\n", + " 'COPY_NUMBER': '0.84%',\n", " 'EPIGENETIC_MODIFICATION': '0.43%',\n", " 'GENOTYPES_EASY': '0.20%',\n", " 'GENOTYPES_COMPOUND': '0.17%',\n", - " 'INCOMPLETE_VAR': '0.12%'}" + " 'INCOMPLETE_VAR': '0.14%'}" ] }, - "execution_count": 16, + "execution_count": 78, "metadata": {}, "output_type": "execute_result" } @@ -594,16 +606,16 @@ }, { "cell_type": "code", - "execution_count": 17, + "execution_count": 79, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 33.21% of the total variants'" + "'The Variation Normalizer does not support 33.84% of the total variants'" ] }, - "execution_count": 17, + "execution_count": 79, "metadata": {}, "output_type": "execute_result" } @@ -622,16 +634,16 @@ }, { "cell_type": "code", - "execution_count": 18, + "execution_count": 80, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 1510, 'genomic': 425}" + "{'protein': 1490, 'genomic': 425}" ] }, - "execution_count": 18, + "execution_count": 80, "metadata": {}, "output_type": "execute_result" } @@ -642,16 +654,16 @@ }, { "cell_type": "code", - "execution_count": 19, + "execution_count": 81, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "1935" + "1915" ] }, - "execution_count": 19, + "execution_count": 81, "metadata": {}, "output_type": "execute_result" } @@ -663,16 +675,16 @@ }, { "cell_type": "code", - "execution_count": 20, + "execution_count": 82, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer SHOULD be able to normalize 55.83% of the total variants'" + "'The Variation Normalizer SHOULD be able to normalize 55.25% of the total variants'" ] }, - "execution_count": 20, + "execution_count": 82, "metadata": {}, "output_type": "execute_result" } @@ -693,16 +705,16 @@ }, { "cell_type": "code", - "execution_count": 21, + "execution_count": 83, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 113, 'genomic': 3}" + "{'protein': 91, 'genomic': 3}" ] }, - "execution_count": 21, + "execution_count": 83, "metadata": {}, "output_type": "execute_result" } @@ -713,16 +725,16 @@ }, { "cell_type": "code", - "execution_count": 22, + "execution_count": 84, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "116" + "94" ] }, - "execution_count": 22, + "execution_count": 84, "metadata": {}, "output_type": "execute_result" } @@ -734,16 +746,16 @@ }, { "cell_type": "code", - "execution_count": 23, + "execution_count": 85, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to normalize 3.346797461050202% of the total variants'" + "'The Variation Normalizer was unable to normalize 2.7120600115406805% of the total variants'" ] }, - "execution_count": 23, + "execution_count": 85, "metadata": {}, "output_type": "execute_result" } @@ -764,7 +776,7 @@ }, { "cell_type": "code", - "execution_count": 24, + "execution_count": 86, "metadata": {}, "outputs": [], "source": [ @@ -795,16 +807,16 @@ }, { "cell_type": "code", - "execution_count": 25, + "execution_count": 87, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer found 62 invalid variants (This is 1.79% of the total variants).'" + "'The Variation Normalizer found 60 invalid variants (This is 1.73% of the total variants).'" ] }, - "execution_count": 25, + "execution_count": 87, "metadata": {}, "output_type": "execute_result" } @@ -825,16 +837,16 @@ }, { "cell_type": "code", - "execution_count": 26, + "execution_count": 88, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to tokenize 54 variants (1.56% of the total variants).'" + "'The Variation Normalizer was unable to tokenize 34 variants (0.98% of the total variants).'" ] }, - "execution_count": 26, + "execution_count": 88, "metadata": {}, "output_type": "execute_result" } @@ -845,7 +857,7 @@ }, { "cell_type": "code", - "execution_count": 27, + "execution_count": 89, "metadata": {}, "outputs": [ { @@ -854,7 +866,7 @@ "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.00% of the total variants).'" ] }, - "execution_count": 27, + "execution_count": 89, "metadata": {}, "output_type": "execute_result" } @@ -873,7 +885,7 @@ }, { "cell_type": "code", - "execution_count": 28, + "execution_count": 90, "metadata": {}, "outputs": [ { @@ -882,7 +894,7 @@ "{'protein': 0, 'genomic': 0}" ] }, - "execution_count": 28, + "execution_count": 90, "metadata": {}, "output_type": "execute_result" } @@ -893,7 +905,7 @@ }, { "cell_type": "code", - "execution_count": 29, + "execution_count": 91, "metadata": {}, "outputs": [ { @@ -902,7 +914,7 @@ "0" ] }, - "execution_count": 29, + "execution_count": 91, "metadata": {}, "output_type": "execute_result" } @@ -914,7 +926,7 @@ }, { "cell_type": "code", - "execution_count": 30, + "execution_count": 92, "metadata": {}, "outputs": [ { @@ -923,7 +935,7 @@ "'The Variation Normalizer raised an exception for 0.00% of the total variants'" ] }, - "execution_count": 30, + "execution_count": 92, "metadata": {}, "output_type": "execute_result" } @@ -942,7 +954,7 @@ }, { "cell_type": "code", - "execution_count": 31, + "execution_count": 93, "metadata": {}, "outputs": [ { @@ -951,7 +963,7 @@ "{'protein': 1393, 'genomic': 422}" ] }, - "execution_count": 31, + "execution_count": 93, "metadata": {}, "output_type": "execute_result" } @@ -962,7 +974,7 @@ }, { "cell_type": "code", - "execution_count": 32, + "execution_count": 94, "metadata": {}, "outputs": [ { @@ -971,7 +983,7 @@ "1815" ] }, - "execution_count": 32, + "execution_count": 94, "metadata": {}, "output_type": "execute_result" } @@ -983,7 +995,7 @@ }, { "cell_type": "code", - "execution_count": 33, + "execution_count": 95, "metadata": {}, "outputs": [ { @@ -992,7 +1004,7 @@ "'The Variation Normalizer successfully normalized 52.37% of the total variants'" ] }, - "execution_count": 33, + "execution_count": 95, "metadata": {}, "output_type": "execute_result" } @@ -1013,7 +1025,7 @@ }, { "cell_type": "code", - "execution_count": 34, + "execution_count": 96, "metadata": {}, "outputs": [ { @@ -1023,7 +1035,7 @@ " 'NC_000003.11:g.10183725C>G': [1751, 1787]}" ] }, - "execution_count": 34, + "execution_count": 96, "metadata": {}, "output_type": "execute_result" } @@ -1031,13 +1043,6 @@ "source": [ "{k:v for k,v in queries_found.items() if len(v) > 1}" ] - }, - { - "cell_type": "code", - "execution_count": null, - "metadata": {}, - "outputs": [], - "source": [] } ], "metadata": { diff --git a/notebooks/analysis/civic/no_query.csv b/notebooks/analysis/civic/no_queries.csv similarity index 100% rename from notebooks/analysis/civic/no_query.csv rename to notebooks/analysis/civic/no_queries.csv diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index f17e9c68..10db8e8d 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -8,6 +8,7 @@ variant_id gene_name variant_name category 433 HIF1A 3' UTR Polymorphism Region Defined Variant 2367 VHL 3p26.3-25.3 11Mb del Region Defined Variant 265 TYMS 5' TANDEM REPEAT Other +2390 MAP2K1 56_61QKQKVG>R Rearrangements 4187 VHL 5kb Deletion Region Defined Variant 2727 ERBB2 A129 Protein Consequence 2729 TP53 A129 Protein Consequence @@ -163,12 +164,14 @@ variant_id gene_name variant_name category 2767 BRAF D594 Protein Consequence 746 MLH1 D667FS Protein Consequence 437 FLT3 D835 Protein Consequence +3231 FLT3 D835 & I836 Protein Consequence 613 FLT3 D835H/Y Protein Consequence 2394 NTRK1 DDR2::NTRK1 Fusion 2706 DEK DEK::AFF2 Fusion 522 BRAF DEL 485-490 Region Defined Variant 954 KIT DEL 554-558 Region Defined Variant 647 LRP1B DELETION Gene Function +1663 BRAF DELNVTAP Incomplete Variants 2685 DGKH DGKH::ZFAND3 Fusion 242 TP53 DNA Binding Domain Mutation Region Defined Variant 31 PRKACA DNAJB1::PRKACA Fusion @@ -195,10 +198,12 @@ variant_id gene_name variant_name category 526 BCL2L11 Deletion Polymorphism Region Defined Variant 3009 ABL1 Double Ph Rearrangements 725 MLH1 E13fs Protein Consequence +2591 DICER1 E1813 mutations Protein Consequence 572 MTOR E2014K and E2419K Protein Consequence 2730 TP53 E204 Protein Consequence 763 MSH2 E28FS Protein Consequence 2763 PIK3CA E545 Protein Consequence +3328 FLT3 E573Δ Other 1544 FLT3 E611_F612INS25 Protein Consequence 2258 EGFR E709A and G719C Protein Consequence 2256 EGFR E709K and G719A Protein Consequence @@ -238,6 +243,7 @@ variant_id gene_name variant_name category 801 NTRK3 ETV6::NTRK3 Fusion 805 NTRK3 ETV6::NTRK3 G623R Fusion 3140 ETV6 ETV6::RUNX1 Fusion +4005 EWSR1 EWSR1-ERG Fusion 3054 EWSR1 EWSR1::ATF1 Fusion 717 DDIT3 EWSR1::DDIT3 Fusion 194 ERG EWSR1::ERG Fusion @@ -326,6 +332,7 @@ variant_id gene_name variant_name category 2984 CXCL10 EXPRESSION Expression 3042 CDK6 EXPRESSION Expression 3330 TCF19 EXPRESSION Expression +1854 EGFR Ex19 del L858R Region Defined Variant 2870 VHL Exon 1 (Frameshift) Other 844 VHL Exon 1 Deletion Region Defined Variant 2465 VHL Exon 1 del (151nt) Region Defined Variant @@ -452,6 +459,7 @@ variant_id gene_name variant_name category 2061 ACVR1 Gain-of-Function Gene Function 2172 MTOR Gain-of-Function Gene Function 1765 EGFR Gain-of-function Gene Function +3766 PIK3CA H1047L or H1047R Protein Consequence 2581 NCOA2 HEY1::NCOA2 Fusion 588 ALK HIP1::ALK I1171N Fusion 2969 HMGA2 HMGA2::LPP Fusion @@ -463,6 +471,7 @@ variant_id gene_name variant_name category 151 BCL2 IGH::BCL2 Fusion 2663 CRLF2 IGH::CRLF2 Fusion 4309 FGFR3 IGHA1::FGFR3 Fusion +2744 IKZF1 IKZF1 deletion and mutation Region Defined Variant 2686 IL2RB IL2RB::MYH9 Fusion 218 SMARCA4 INACTIVATING MUTATION Gene Function 2238 BARD1 ISOFORM EXPRESSION Expression @@ -480,6 +489,8 @@ variant_id gene_name variant_name category 2785 FLT3 ITD N676K Rearrangements 3218 FLT3 ITD and co-mutations Rearrangements 3208 FLT3 ITD&F691(I/L) Rearrangements +788 CHEK2 IVS2+1G>A Other +2674 RB1 IVS20, A-G, -2 Other 2895 NUDT15 Inactivating Mutation Gene Function 67 KIT Internal Duplication Copy Number 2659 FGFR1 Internal Duplication Copy Number @@ -512,7 +523,8 @@ variant_id gene_name variant_name category 432 KMT2A KMT2A::MLLT3 Fusion 3117 KMT2A KMT2A::MLLT4 Fusion 2210 ASNS KMT2E::ASNS Fusion -3471 KRAS KRAS4A underexpression Expression +3472 KRAS KRAS4A Other +3471 KRAS KRAS4A underexpression Other 413 ERBB2 Kinase Domain Mutation Region Defined Variant 2731 TP53 L114 Protein Consequence 1783 VHL L158fs (c.471dupT) Copy Number @@ -693,10 +705,13 @@ variant_id gene_name variant_name category 3203 ATRX Mutation Region Defined Variant 3274 PDGFRA Mutation Region Defined Variant 4018 MS4A1 Mutation Region Defined Variant +3127 WT1 Mutations Region Defined Variant 28 CEBPA N-TERMINAL FRAME SHIFT Protein Consequence +1320 ERBB2 NON-AMPLIFICATION Copy Number 513 ALK NPM::ALK Fusion 2883 BRAF NRF1::BRAF Fusion 2762 NRG1 NRG1 FUSIONS Fusion +3740 NTRK1 NTRK1 amplification Copy Number 340 DKK1 NUCLEAR EXPRESSION Expression 368 BIRC5 NUCLEAR EXPRESSION Expression 391 IGF1R NUCLEAR EXPRESSION Expression @@ -918,10 +933,12 @@ variant_id gene_name variant_name category 507 GNAQ Q209 Protein Consequence 558 GNA11 Q209 Protein Consequence 744 MLH1 Q426FS Protein Consequence +3326 FLT3 Q575Δ Other 94 NRAS Q61 Protein Consequence 203 KRAS Q61 Protein Consequence 2570 HRAS Q61 Protein Consequence 1105 KRAS Q61FS Protein Consequence +4000 RAF1 QKI-RAF1 Fusion 3029 BCL2 R107_R110dup Copy Number 2021 VHL R108dup (c.322_324dup) Copy Number 58 IDH1 R132 Protein Consequence @@ -935,6 +952,7 @@ variant_id gene_name variant_name category 2597 DICER1 R392fs and E1813D Protein Consequence 735 MLH1 R687FS Protein Consequence 1165 ATM R777FS Protein Consequence +3411 TEK R849W and R1108* Protein Consequence 32 DNMT3A R882 Protein Consequence 3268 ABL1 RANBP2::ABL1 Fusion 514 ALK RANBP2::ALK Fusion @@ -977,6 +995,7 @@ variant_id gene_name variant_name category 497 ERBB2 S310F/Y Protein Consequence 128 U2AF1 S34Y/F Protein Consequence 3257 AKT1 S473 Phosphorylation Epigenetic Modification +3329 FLT3 S574Δ Other 1676 FBXW7 S668FS*39 Protein Consequence 720 EGFR S720 Protein Consequence 1511 EGFR S768_D770dup Copy Number @@ -1016,6 +1035,7 @@ variant_id gene_name variant_name category 3359 CSF1R TBL1XR1::CSF1R Fusion 2862 JAK2 TERF2::JAK2 Fusion 3730 TFE3 TFE3 fusion Fusion +4074 TFEB TFEB amplification Copy Number 576 ROS1 TFG::ROS1 Fusion 2669 TGFBR3 TGFBR3 Protein Consequence 56 FLT3 TKD MUTATION Gene Function @@ -1102,6 +1122,7 @@ variant_id gene_name variant_name category 390 EGFR Y1092 PHOSPHORYLATION Epigenetic Modification 245 NF2 Y177fs Protein Consequence 2720 TP53 Y205 Protein Consequence +3327 FLT3 Y572Δ Other 165 EZH2 Y646 Protein Consequence 3055 FLT3 Y693 Protein Consequence 1672 EGFR Y69FS*11 Protein Consequence @@ -1120,6 +1141,7 @@ variant_id gene_name variant_name category 3482 LGR5 delta5 Other 2349 IL7R exon 6 mutations Region Defined Variant 3752 SSTR5 expression Expression +2807 BRCA1 gBRCAm Other 2226 BRAF intron 10 rearrangement Rearrangements 2225 BRAF intron 9 rearrangement Rearrangements 2814 DRD5 low expression Expression diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index a3816a97..34aeb508 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -1,6 +1,5 @@ variant_id query query_type exception_raised message warnings 748 MLH1 *757L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2390 MAP2K1 56_61QKQKVG>R protein False unable to normalize ['Unable to tokenize 56_61QKQKVG>R'] 3718 AR A748V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3725 AR A765T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2844 MITF Amplificatioin protein False unable to normalize ['Unable to tokenize Amplificatioin'] @@ -10,22 +9,16 @@ variant_id query query_type exception_raised message warnings 3706 AR D221H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3713 AR D528G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2833 NECTIN4 D594H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3231 FLT3 D835 & I836 protein False unable to normalize ['Unable to tokenize D835', 'Unable to tokenize &', 'Unable to tokenize I836'] 943 PDGFRA D842_H845DELDIMH protein False unable to normalize ['Unable to tokenize D842_H845DELDIMH'] 2514 3-10183806-A-CC genomic False unable to normalize ['Unable to find valid result for classifications: set()'] 3023 PML DELETION (p.K227_T233del) protein False unable to normalize ['Unable to tokenize DELETION', 'Unable to tokenize (p.K227_T233del)'] -1663 BRAF DELNVTAP protein False unable to normalize ['Unable to tokenize DELNVTAP'] 2414 MAP2K1 E102_I103delEI protein False unable to normalize ['Unable to tokenize E102_I103delEI'] 2994 MAEA E151INT protein False unable to normalize ['Unable to tokenize E151INT'] -2591 DICER1 E1813 mutations protein False unable to normalize ['Unable to tokenize E1813', 'Unable to tokenize mutations'] 3707 AR E198G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3328 FLT3 E573Δ protein False unable to normalize ['Unable to tokenize E573Δ'] 1577 EGFR E709_T710>D protein False unable to normalize ['Unable to tokenize E709_T710>D'] 1635 EGFR E746_A750>IP protein False unable to normalize ['Unable to tokenize E746_A750>IP'] 1433 EGFR E746_S752>A protein False unable to normalize ['Unable to tokenize E746_S752>A'] 1003 EGFR E746_T751>I protein False unable to normalize ['Unable to tokenize E746_T751>I'] -4005 EWSR1 EWSR1-ERG protein False unable to normalize ['Unable to tokenize EWSR1-ERG'] -1854 EGFR Ex19 del L858R protein False unable to normalize ['Unable to tokenize Ex19', 'Unable to tokenize del'] 457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3450 BRAF F594L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3793 TP53 G177E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -36,11 +29,7 @@ variant_id query query_type exception_raised message warnings 4298 FGFR3 G802_X807del protein False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" 4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 protein False unable to normalize ['Unable to tokenize GRCh37/hg19', 'Unable to tokenize 11q14.3(chr11:88960991-88961138)x160'] 3305 TNFRSF17 Gain protein False unable to normalize ['Unable to tokenize Gain'] -3766 PIK3CA H1047L or H1047R protein False unable to normalize ['Unable to tokenize or'] 3448 BRAF I462S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2744 IKZF1 IKZF1 deletion and mutation protein False unable to normalize ['Unable to tokenize deletion', 'Unable to tokenize and', 'Unable to tokenize mutation'] -788 CHEK2 IVS2+1G>A protein False unable to normalize ['Unable to tokenize IVS2+1G>A'] -2674 RB1 IVS20, A-G, -2 protein False unable to normalize ['Unable to tokenize IVS20,', 'Unable to tokenize A-G,', 'Unable to tokenize -2'] 2137 3-10191481-GAA-C genomic False unable to normalize ['Unable to find valid result for classifications: set()'] 2815 H3C2 K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3939 H3-3A K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -52,7 +41,6 @@ variant_id query query_type exception_raised message warnings 3455 BRAF K600E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3714 AR K720E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1638 EGFR K745_E749delKELRE protein False unable to normalize ['Unable to tokenize K745_E749delKELRE'] -3472 KRAS KRAS4A protein False unable to normalize ['Unable to tokenize KRAS4A'] 4114 TP53 L139N protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 424 MYD88 L265P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1540 PDGFRA L579M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -64,11 +52,8 @@ variant_id query query_type exception_raised message warnings 4221 AKT2 L78_Q79ins protein False unable to normalize ['Unable to tokenize L78_Q79ins'] 3483 LGR5 LGR5FL protein False unable to normalize ['Unable to tokenize LGR5FL'] 3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3127 WT1 Mutations protein False unable to normalize ['Unable to tokenize Mutations'] 3719 AR N756D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1581 EGFR N771>GY protein False unable to normalize ['Unable to tokenize N771>GY'] -1320 ERBB2 NON-AMPLIFICATION protein False unable to normalize ['Unable to tokenize NON-AMPLIFICATION'] -3740 NTRK1 NTRK1 amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" 2408 BRAF Non-V600 protein False unable to normalize ['Unable to tokenize Non-V600'] 3711 AR P340L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3712 AR P504L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -76,26 +61,21 @@ variant_id query query_type exception_raised message warnings 2916 PRPS1 PRPS1 MUTATION protein False unable to normalize ['Unable to tokenize MUTATION'] 1643 SCN8A Q225X protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2700 CBL Q294E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3326 FLT3 Q575Δ protein False unable to normalize ['Unable to tokenize Q575Δ'] 3726 AR Q798E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -4000 RAF1 QKI-RAF1 protein False unable to normalize ['Unable to tokenize QKI-RAF1'] 1975 3-10191506-CGGAGC-T genomic False unable to normalize ['Unable to find valid result for classifications: set()'] 3069 NTRK3 R248C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3447 BRAF R461I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3716 AR R726L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3411 TEK R849W and R1108* protein False unable to normalize ['Unable to tokenize and'] 3674 NOTCH1 S2514A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3676 NOTCH1 S2514E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3677 NOTCH1 S2514P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3709 AR S296R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3329 FLT3 S574Δ protein False unable to normalize ['Unable to tokenize S574Δ'] 891 EGFR S752_I759delSPKANKEI protein False unable to normalize ['Unable to tokenize S752_I759delSPKANKEI'] 3723 AR S759P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 536 SULT1E1 SNP protein False unable to normalize ['Unable to tokenize SNP'] 3675 NOTCH1 T2512A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1546 KIT T417_D419DELTYDINSI protein False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] 3445 BRAF T598I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -4074 TFEB TFEB amplification protein False unable to normalize "[""Unable to find valid result for classifications: {'amplification'}""]" 729 UGT1A1 UGT1A1*28 protein False unable to normalize ['Unable to tokenize UGT1A1*28'] 732 UGT1A1 UGT1A1*60 protein False unable to normalize ['Unable to tokenize UGT1A1*60'] 2624 TP53 V135A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -110,8 +90,6 @@ variant_id query query_type exception_raised message warnings 3722 AR V757I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1539 PDGFRA W559_R560DELWR protein False unable to normalize ['Unable to tokenize W559_R560DELWR'] 1542 KIT Y553_W557DELYEVQW protein False unable to normalize ['Unable to tokenize Y553_W557DELYEVQW'] -3327 FLT3 Y572Δ protein False unable to normalize ['Unable to tokenize Y572Δ'] 3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V protein False unable to normalize ['Unable to tokenize Y646F,', 'Unable to tokenize Y646N,', 'Unable to tokenize Y646S,', 'Unable to tokenize Y646H,', 'Unable to tokenize Y646C,', 'Unable to tokenize A682G,'] 3724 AR Y763C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2807 BRCA1 gBRCAm protein False unable to normalize ['Unable to tokenize gBRCAm'] 3512 BRAF p61BRAF(V600E) protein False unable to normalize ['Unable to tokenize p61BRAF(V600E)'] From 8b82d057678ea380a0d481743d673b4bb5deaf76 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Wed, 22 Feb 2023 22:17:44 -0500 Subject: [PATCH 10/29] wip: fix civic regex patterns + keywords --- .../civic/all_protein_variant_queries.csv | 12 -- notebooks/analysis/civic/civic_analysis.ipynb | 187 +++++++++--------- .../analysis/civic/not_supported_variants.csv | 20 +- .../civic/unable_to_normalize_queries.csv | 12 -- 4 files changed, 114 insertions(+), 117 deletions(-) diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv index 234c193a..47460af5 100644 --- a/notebooks/analysis/civic/all_protein_variant_queries.csv +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -276,7 +276,6 @@ variant_id gene_name variant_name 98 PDGFRA D842I 99 PDGFRA D842V 100 PDGFRA D842Y -943 PDGFRA D842_H845DELDIMH 102 PDGFRA D842_I843delinsVM 1518 PDGFRA D842_M844del 3374 CDKN2A D84G @@ -354,17 +353,13 @@ variant_id gene_name variant_name 4106 TP53 E68G 1412 EGFR E709K 1413 EGFR E709Q -1577 EGFR E709_T710>D 1572 EGFR E734Q 724 EGFR E746G 1431 EGFR E746K 1005 EGFR E746V -1635 EGFR E746_A750>IP 1002 EGFR E746_A750del -1433 EGFR E746_S752>A 1009 EGFR E746_S752delinsD 4280 EGFR E746_S752insV -1003 EGFR E746_T751>I 1004 EGFR E746_T751delinsA 1214 EGFR E746_T751delinsVA 3754 BACH2 E788K @@ -573,8 +568,6 @@ variant_id gene_name variant_name 772 HOXB13 G84E 865 PDGFRA G853D 351 SETBP1 G870S -4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 -3305 TNFRSF17 Gain 1151 PIK3CA H1047L 107 PIK3CA H1047R 2710 PIK3CA H1047X @@ -784,8 +777,6 @@ variant_id gene_name variant_name 3000 EGFR L718V 3717 AR L744F 1891 EGFR L747P -1006 EGFR L747_A750>P -1011 EGFR L747_P753>Q 1012 EGFR L747_P753delinsS 890 EGFR L747_S752del 1580 EGFR L747_S752delinsQ @@ -798,7 +789,6 @@ variant_id gene_name variant_name 40 ERBB2 L755W 37 ERBB2 L755_T759del 1308 ERBB2 L768S -4221 AKT2 L78_Q79ins 3004 EGFR L792H 1457 EGFR L838P 1018 EGFR L838V @@ -1366,9 +1356,7 @@ variant_id gene_name variant_name 1404 BRAF V600L 1405 BRAF V600M 991 BRAF V600R -2820 BRAF V600_K601>E 1658 BRAF V600_K601DELINSD -2821 BRAF V600_S602>DT 3241 BRAF V600_S605delinsDV 2825 BRAF V601E 2834 MAP2K1 V60E diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 0d7eb93d..77937ff0 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -12,9 +12,18 @@ }, { "cell_type": "code", - "execution_count": 63, + "execution_count": 1, "metadata": {}, - "outputs": [], + "outputs": [ + { + "name": "stderr", + "output_type": "stream", + "text": [ + "/Users/kxk102/.local/share/virtualenvs/variation-normalization-KPVKcmjd/lib/python3.10/site-packages/python_jsonschema_objects/__init__.py:49: UserWarning: Schema version http://json-schema.org/draft-07/schema not recognized. Some keywords and features may not be supported.\n", + " warnings.warn(\n" + ] + } + ], "source": [ "import logging\n", "from enum import Enum\n", @@ -31,7 +40,7 @@ }, { "cell_type": "code", - "execution_count": 64, + "execution_count": 2, "metadata": {}, "outputs": [ { @@ -40,7 +49,7 @@ "True" ] }, - "execution_count": 64, + "execution_count": 2, "metadata": {}, "output_type": "execute_result" } @@ -53,7 +62,7 @@ }, { "cell_type": "code", - "execution_count": 65, + "execution_count": 3, "metadata": {}, "outputs": [], "source": [ @@ -62,7 +71,7 @@ }, { "cell_type": "code", - "execution_count": 66, + "execution_count": 4, "metadata": {}, "outputs": [], "source": [ @@ -72,7 +81,7 @@ }, { "cell_type": "code", - "execution_count": 67, + "execution_count": 5, "metadata": {}, "outputs": [ { @@ -81,7 +90,7 @@ "True" ] }, - "execution_count": 67, + "execution_count": 5, "metadata": {}, "output_type": "execute_result" } @@ -92,7 +101,7 @@ }, { "cell_type": "code", - "execution_count": 68, + "execution_count": 6, "metadata": {}, "outputs": [ { @@ -101,7 +110,7 @@ "'Total Number of variants in CIViC: 3466'" ] }, - "execution_count": 68, + "execution_count": 6, "metadata": {}, "output_type": "execute_result" } @@ -114,7 +123,7 @@ }, { "cell_type": "code", - "execution_count": 69, + "execution_count": 7, "metadata": {}, "outputs": [], "source": [ @@ -145,14 +154,14 @@ }, { "cell_type": "code", - "execution_count": 70, + "execution_count": 8, "metadata": {}, "outputs": [], "source": [ "not_supported = {\n", " VariantCategory.EXPRESSION: {\n", " \"overexpression\", \"expression\", \"underexpression\", \"serum levels\", \n", - " \"transcription levels\", \"autocrine activation\", \"tnc-l\", \"promoter mutation\",\n", + " \"transcription levels\", \"autocrine activation\", \"tnc-l\", \n", " \"top2a/90\", \"low ratio of vegf165b/vegftotal\"\n", " },\n", " VariantCategory.EPIGENETIC_MODIFICATION: {\n", @@ -173,10 +182,10 @@ " VariantCategory.REARRANGEMENTS: {\n", " \"translocation\", \"rearrangement\", \"double ph\", \"alu insertion\", \n", " \"exon 20 insertion\", \"internal tandem duplications\", \"tandem repeat\",\n", - " \"itd\", \"D842_H845DELDIMH\"\n", + " \"itd\", \"d842_h845deldimh\"\n", " },\n", " VariantCategory.COPY_NUMBER: {\n", - " \"copy number\", \"repeat\", \"dup\", \"non-amplification\"\n", + " \"copy number\", \"repeat\", \"dup\", \"non-amplification\", \"gain\"\n", " }, \n", " VariantCategory.OTHER: {\n", " \"cytoplasmic mislocalization\", \"alternative transcript\", \"rare mutation\",\n", @@ -195,7 +204,7 @@ " VariantCategory.REGION_DEFINED_VAR: {\n", " \"deleterious mutation\", \"domain mutation\", \"polymorphism\", \n", " \"non-p-loop mutation\", \"p-loop mutation\", \"3' utr mutation\", \"alteration\",\n", - " \"t17 deletion\", \"exon\", \"ex19 del l858r\"\n", + " \"t17 deletion\", \"exon\", \"ex19 del l858r\", \"promoter mutation\"\n", " },\n", " VariantCategory.INCOMPLETE_VAR: {\n", " \"delnvtap\"\n", @@ -205,7 +214,7 @@ }, { "cell_type": "code", - "execution_count": 71, + "execution_count": 9, "metadata": {}, "outputs": [], "source": [ @@ -312,8 +321,8 @@ " \n", " if any((\n", " re.match(r\"t\\(.*\\)\\(.*\\)\", v_name_lower), # ex: t(1;3)(p36.3;p25)\n", - " re.match(r\"\\w\\d+ins$\", v_name_lower), # ex: P780INS\n", - " re.match(r\"\\d+_\\d+\\w+>\\w+\", v_name_lower), # ex: 56_61QKQKVG>R\n", + " re.match(r\"\\w+ins$\", v_name_lower), # ex: P780INS, L78_Q79ins\n", + " re.match(r\"\\w+_\\w+>\\w+\", v_name_lower), # ex: 56_61QKQKVG>R, E746_T751>I\n", " )): \n", " categories.add(VariantCategory.REARRANGEMENTS)\n", "\n", @@ -339,7 +348,7 @@ "\n", " if any((\n", " re.match(r\"^\\w+\\samplification\", v_name_lower), # ex: {gene} amplification\n", - " re.match(r\"GRCh3(7|8)\\/hg\\d+\\s\\w+.?\\d*\\(chr\\w+:\\d+-\\d+\\)x\\d+\", v_name_lower), # ex: GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160\n", + " re.match(r\"grch3(7|8)\\/hg\\d+\\s\\w+.?\\d*\\(chr\\w+:\\d+-\\d+\\)x\\d+\", v_name_lower), # ex: GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160\n", " )): \n", " categories.add(VariantCategory.COPY_NUMBER)\n", "\n", @@ -428,7 +437,7 @@ }, { "cell_type": "code", - "execution_count": 72, + "execution_count": 10, "metadata": {}, "outputs": [ { @@ -437,7 +446,7 @@ "{'protein': 0, 'genomic': 384}" ] }, - "execution_count": 72, + "execution_count": 10, "metadata": {}, "output_type": "execute_result" } @@ -448,7 +457,7 @@ }, { "cell_type": "code", - "execution_count": 73, + "execution_count": 11, "metadata": {}, "outputs": [ { @@ -457,7 +466,7 @@ "384" ] }, - "execution_count": 73, + "execution_count": 11, "metadata": {}, "output_type": "execute_result" } @@ -469,7 +478,7 @@ }, { "cell_type": "code", - "execution_count": 74, + "execution_count": 12, "metadata": {}, "outputs": [ { @@ -478,7 +487,7 @@ "'11.08% of the total variants had no queries'" ] }, - "execution_count": 74, + "execution_count": 12, "metadata": {}, "output_type": "execute_result" } @@ -497,7 +506,7 @@ }, { "cell_type": "code", - "execution_count": 75, + "execution_count": 13, "metadata": {}, "outputs": [], "source": [ @@ -506,16 +515,16 @@ }, { "cell_type": "code", - "execution_count": 76, + "execution_count": 14, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 1173'" + "'Total number of variants we do not support in the Variation Normalizer: 1185'" ] }, - "execution_count": 76, + "execution_count": 14, "metadata": {}, "output_type": "execute_result" } @@ -535,27 +544,27 @@ }, { "cell_type": "code", - "execution_count": 77, + "execution_count": 15, "metadata": {}, "outputs": [ { "data": { "text/plain": [ "{'FUSION': 312,\n", - " 'EXPRESSION': 287,\n", - " 'REGION_DEFINED_VAR': 177,\n", + " 'EXPRESSION': 286,\n", + " 'REGION_DEFINED_VAR': 178,\n", " 'PROTEIN_CONS': 128,\n", - " 'GENE_FUNC': 89,\n", - " 'OTHER': 80,\n", - " 'REARRANGEMENTS': 38,\n", - " 'COPY_NUMBER': 29,\n", + " 'GENE_FUNC': 86,\n", + " 'OTHER': 83,\n", + " 'REARRANGEMENTS': 48,\n", + " 'COPY_NUMBER': 31,\n", " 'EPIGENETIC_MODIFICATION': 15,\n", " 'GENOTYPES_EASY': 7,\n", " 'GENOTYPES_COMPOUND': 6,\n", " 'INCOMPLETE_VAR': 5}" ] }, - "execution_count": 77, + "execution_count": 15, "metadata": {}, "output_type": "execute_result" } @@ -575,27 +584,27 @@ }, { "cell_type": "code", - "execution_count": 78, + "execution_count": 16, "metadata": {}, "outputs": [ { "data": { "text/plain": [ "{'FUSION': '9.00%',\n", - " 'EXPRESSION': '8.28%',\n", - " 'REGION_DEFINED_VAR': '5.11%',\n", + " 'EXPRESSION': '8.25%',\n", + " 'REGION_DEFINED_VAR': '5.14%',\n", " 'PROTEIN_CONS': '3.69%',\n", - " 'GENE_FUNC': '2.57%',\n", - " 'OTHER': '2.31%',\n", - " 'REARRANGEMENTS': '1.10%',\n", - " 'COPY_NUMBER': '0.84%',\n", + " 'GENE_FUNC': '2.48%',\n", + " 'OTHER': '2.39%',\n", + " 'REARRANGEMENTS': '1.38%',\n", + " 'COPY_NUMBER': '0.89%',\n", " 'EPIGENETIC_MODIFICATION': '0.43%',\n", " 'GENOTYPES_EASY': '0.20%',\n", " 'GENOTYPES_COMPOUND': '0.17%',\n", " 'INCOMPLETE_VAR': '0.14%'}" ] }, - "execution_count": 78, + "execution_count": 16, "metadata": {}, "output_type": "execute_result" } @@ -606,16 +615,16 @@ }, { "cell_type": "code", - "execution_count": 79, + "execution_count": 17, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 33.84% of the total variants'" + "'The Variation Normalizer does not support 34.19% of the total variants'" ] }, - "execution_count": 79, + "execution_count": 17, "metadata": {}, "output_type": "execute_result" } @@ -634,16 +643,16 @@ }, { "cell_type": "code", - "execution_count": 80, + "execution_count": 18, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 1490, 'genomic': 425}" + "{'protein': 1478, 'genomic': 425}" ] }, - "execution_count": 80, + "execution_count": 18, "metadata": {}, "output_type": "execute_result" } @@ -654,16 +663,16 @@ }, { "cell_type": "code", - "execution_count": 81, + "execution_count": 19, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "1915" + "1903" ] }, - "execution_count": 81, + "execution_count": 19, "metadata": {}, "output_type": "execute_result" } @@ -675,16 +684,16 @@ }, { "cell_type": "code", - "execution_count": 82, + "execution_count": 20, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer SHOULD be able to normalize 55.25% of the total variants'" + "'The Variation Normalizer SHOULD be able to normalize 54.90% of the total variants'" ] }, - "execution_count": 82, + "execution_count": 20, "metadata": {}, "output_type": "execute_result" } @@ -705,16 +714,16 @@ }, { "cell_type": "code", - "execution_count": 83, + "execution_count": 21, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 91, 'genomic': 3}" + "{'protein': 79, 'genomic': 3}" ] }, - "execution_count": 83, + "execution_count": 21, "metadata": {}, "output_type": "execute_result" } @@ -725,16 +734,16 @@ }, { "cell_type": "code", - "execution_count": 84, + "execution_count": 22, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "94" + "82" ] }, - "execution_count": 84, + "execution_count": 22, "metadata": {}, "output_type": "execute_result" } @@ -746,16 +755,16 @@ }, { "cell_type": "code", - "execution_count": 85, + "execution_count": 23, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to normalize 2.7120600115406805% of the total variants'" + "'The Variation Normalizer was unable to normalize 2.3658395845354874% of the total variants'" ] }, - "execution_count": 85, + "execution_count": 23, "metadata": {}, "output_type": "execute_result" } @@ -776,7 +785,7 @@ }, { "cell_type": "code", - "execution_count": 86, + "execution_count": 24, "metadata": {}, "outputs": [], "source": [ @@ -807,7 +816,7 @@ }, { "cell_type": "code", - "execution_count": 87, + "execution_count": 25, "metadata": {}, "outputs": [ { @@ -816,7 +825,7 @@ "'The Variation Normalizer found 60 invalid variants (This is 1.73% of the total variants).'" ] }, - "execution_count": 87, + "execution_count": 25, "metadata": {}, "output_type": "execute_result" } @@ -837,16 +846,16 @@ }, { "cell_type": "code", - "execution_count": 88, + "execution_count": 26, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to tokenize 34 variants (0.98% of the total variants).'" + "'The Variation Normalizer was unable to tokenize 22 variants (0.63% of the total variants).'" ] }, - "execution_count": 88, + "execution_count": 26, "metadata": {}, "output_type": "execute_result" } @@ -857,7 +866,7 @@ }, { "cell_type": "code", - "execution_count": 89, + "execution_count": 27, "metadata": {}, "outputs": [ { @@ -866,7 +875,7 @@ "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.00% of the total variants).'" ] }, - "execution_count": 89, + "execution_count": 27, "metadata": {}, "output_type": "execute_result" } @@ -885,7 +894,7 @@ }, { "cell_type": "code", - "execution_count": 90, + "execution_count": 28, "metadata": {}, "outputs": [ { @@ -894,7 +903,7 @@ "{'protein': 0, 'genomic': 0}" ] }, - "execution_count": 90, + "execution_count": 28, "metadata": {}, "output_type": "execute_result" } @@ -905,7 +914,7 @@ }, { "cell_type": "code", - "execution_count": 91, + "execution_count": 29, "metadata": {}, "outputs": [ { @@ -914,7 +923,7 @@ "0" ] }, - "execution_count": 91, + "execution_count": 29, "metadata": {}, "output_type": "execute_result" } @@ -926,7 +935,7 @@ }, { "cell_type": "code", - "execution_count": 92, + "execution_count": 30, "metadata": {}, "outputs": [ { @@ -935,7 +944,7 @@ "'The Variation Normalizer raised an exception for 0.00% of the total variants'" ] }, - "execution_count": 92, + "execution_count": 30, "metadata": {}, "output_type": "execute_result" } @@ -954,7 +963,7 @@ }, { "cell_type": "code", - "execution_count": 93, + "execution_count": 31, "metadata": {}, "outputs": [ { @@ -963,7 +972,7 @@ "{'protein': 1393, 'genomic': 422}" ] }, - "execution_count": 93, + "execution_count": 31, "metadata": {}, "output_type": "execute_result" } @@ -974,7 +983,7 @@ }, { "cell_type": "code", - "execution_count": 94, + "execution_count": 32, "metadata": {}, "outputs": [ { @@ -983,7 +992,7 @@ "1815" ] }, - "execution_count": 94, + "execution_count": 32, "metadata": {}, "output_type": "execute_result" } @@ -995,7 +1004,7 @@ }, { "cell_type": "code", - "execution_count": 95, + "execution_count": 33, "metadata": {}, "outputs": [ { @@ -1004,7 +1013,7 @@ "'The Variation Normalizer successfully normalized 52.37% of the total variants'" ] }, - "execution_count": 95, + "execution_count": 33, "metadata": {}, "output_type": "execute_result" } @@ -1025,7 +1034,7 @@ }, { "cell_type": "code", - "execution_count": 96, + "execution_count": 34, "metadata": {}, "outputs": [ { @@ -1035,7 +1044,7 @@ " 'NC_000003.11:g.10183725C>G': [1751, 1787]}" ] }, - "execution_count": 96, + "execution_count": 34, "metadata": {}, "output_type": "execute_result" } diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index 10db8e8d..21962310 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -166,6 +166,7 @@ variant_id gene_name variant_name category 437 FLT3 D835 Protein Consequence 3231 FLT3 D835 & I836 Protein Consequence 613 FLT3 D835H/Y Protein Consequence +943 PDGFRA D842_H845DELDIMH Rearrangements 2394 NTRK1 DDR2::NTRK1 Fusion 2706 DEK DEK::AFF2 Fusion 522 BRAF DEL 485-490 Region Defined Variant @@ -207,6 +208,10 @@ variant_id gene_name variant_name category 1544 FLT3 E611_F612INS25 Protein Consequence 2258 EGFR E709A and G719C Protein Consequence 2256 EGFR E709K and G719A Protein Consequence +1577 EGFR E709_T710>D Rearrangements +1635 EGFR E746_A750>IP Rearrangements +1433 EGFR E746_S752>A Rearrangements +1003 EGFR E746_T751>I Rearrangements 2847 JAK2 EBF1::JAK2 Fusion 535 PDGFRB EBF1::PDGFRB Fusion 3484 FN1 EDB Incomplete Variants @@ -456,9 +461,11 @@ variant_id gene_name variant_name category 3214 JAK2 GOLGA5::JAK2 Fusion 2395 NTRK1 GON4L::NTRK1 Fusion 2770 ROS1 GOPC::ROS1 Fusion -2061 ACVR1 Gain-of-Function Gene Function -2172 MTOR Gain-of-Function Gene Function -1765 EGFR Gain-of-function Gene Function +4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 Copy Number +3305 TNFRSF17 Gain Copy Number +2061 ACVR1 Gain-of-Function Other +2172 MTOR Gain-of-Function Other +1765 EGFR Gain-of-function Other 3766 PIK3CA H1047L or H1047R Protein Consequence 2581 NCOA2 HEY1::NCOA2 Fusion 588 ALK HIP1::ALK I1171N Fusion @@ -534,6 +541,9 @@ variant_id gene_name variant_name category 541 PALB2 L531FS*30 Protein Consequence 2766 BRAF L597 Protein Consequence 2997 EGFR L718V and L718Q Protein Consequence +1006 EGFR L747_A750>P Rearrangements +1011 EGFR L747_P753>Q Rearrangements +4221 AKT2 L78_Q79ins Rearrangements 1866 EGFR L861 Protein Consequence 1278 NTRK1 LMNA::NTRK1 Fusion 1282 NTRK1 LMNA::NTRK1 G595R and G667C Fusion @@ -928,7 +938,7 @@ variant_id gene_name variant_name category 333 PTPRT Promoter Hypermethylation Epigenetic Modification 374 NAPRT Promoter Hypermethylation Epigenetic Modification 85 MGMT Promoter Methylation Epigenetic Modification -220 TERT Promoter Mutation Expression +220 TERT Promoter Mutation Region Defined Variant 127 U2AF1 Q157P/R Protein Consequence 507 GNAQ Q209 Protein Consequence 558 GNA11 Q209 Protein Consequence @@ -1096,6 +1106,8 @@ variant_id gene_name variant_name category 1316 KIT V559 Protein Consequence 3461 AR V567es expression Expression 17 BRAF V600 Protein Consequence +2820 BRAF V600_K601>E Rearrangements +2821 BRAF V600_S602>DT Rearrangements 362 AR V7 EXPRESSION Expression 1310 ERBB2 V773 Protein Consequence 2159 AR V9 EXPRESSION Expression diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index 34aeb508..c7c3e8ec 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -9,16 +9,11 @@ variant_id query query_type exception_raised message warnings 3706 AR D221H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3713 AR D528G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2833 NECTIN4 D594H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -943 PDGFRA D842_H845DELDIMH protein False unable to normalize ['Unable to tokenize D842_H845DELDIMH'] 2514 3-10183806-A-CC genomic False unable to normalize ['Unable to find valid result for classifications: set()'] 3023 PML DELETION (p.K227_T233del) protein False unable to normalize ['Unable to tokenize DELETION', 'Unable to tokenize (p.K227_T233del)'] 2414 MAP2K1 E102_I103delEI protein False unable to normalize ['Unable to tokenize E102_I103delEI'] 2994 MAEA E151INT protein False unable to normalize ['Unable to tokenize E151INT'] 3707 AR E198G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1577 EGFR E709_T710>D protein False unable to normalize ['Unable to tokenize E709_T710>D'] -1635 EGFR E746_A750>IP protein False unable to normalize ['Unable to tokenize E746_A750>IP'] -1433 EGFR E746_S752>A protein False unable to normalize ['Unable to tokenize E746_S752>A'] -1003 EGFR E746_T751>I protein False unable to normalize ['Unable to tokenize E746_T751>I'] 457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3450 BRAF F594L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3793 TP53 G177E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -27,8 +22,6 @@ variant_id query query_type exception_raised message warnings 3443 BRAF G465A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3441 BRAF G468A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4298 FGFR3 G802_X807del protein False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" -4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 protein False unable to normalize ['Unable to tokenize GRCh37/hg19', 'Unable to tokenize 11q14.3(chr11:88960991-88961138)x160'] -3305 TNFRSF17 Gain protein False unable to normalize ['Unable to tokenize Gain'] 3448 BRAF I462S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2137 3-10191481-GAA-C genomic False unable to normalize ['Unable to find valid result for classifications: set()'] 2815 H3C2 K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -46,10 +39,7 @@ variant_id query query_type exception_raised message warnings 1540 PDGFRA L579M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1309 ERBB2 L638S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3717 AR L744F protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1006 EGFR L747_A750>P protein False unable to normalize ['Unable to tokenize L747_A750>P'] -1011 EGFR L747_P753>Q protein False unable to normalize ['Unable to tokenize L747_P753>Q'] 1007 EGFR L747_T751delLREAT protein False unable to normalize ['Unable to tokenize L747_T751delLREAT'] -4221 AKT2 L78_Q79ins protein False unable to normalize ['Unable to tokenize L78_Q79ins'] 3483 LGR5 LGR5FL protein False unable to normalize ['Unable to tokenize LGR5FL'] 3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3719 AR N756D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -83,8 +73,6 @@ variant_id query query_type exception_raised message warnings 3446 BRAF V599E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3453 BRAF V599K protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3454 BRAF V599R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2820 BRAF V600_K601>E protein False unable to normalize ['Unable to tokenize V600_K601>E'] -2821 BRAF V600_S602>DT protein False unable to normalize ['Unable to tokenize V600_S602>DT'] 2825 BRAF V601E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3721 AR V757A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3722 AR V757I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" From e82b3bc590909601bfef79443128c4eff9a2085c Mon Sep 17 00:00:00 2001 From: korikuzma Date: Thu, 23 Feb 2023 11:08:01 -0500 Subject: [PATCH 11/29] wip: more updates to keywords/patterns --- .../civic/all_protein_variant_queries.csv | 7 --- notebooks/analysis/civic/civic_analysis.ipynb | 51 ++++++++++--------- .../analysis/civic/not_supported_variants.csv | 17 +++++-- .../civic/unable_to_normalize_queries.csv | 7 --- 4 files changed, 39 insertions(+), 43 deletions(-) diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv index 47460af5..cbeca201 100644 --- a/notebooks/analysis/civic/all_protein_variant_queries.csv +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -163,7 +163,6 @@ variant_id gene_name variant_name 1264 KIT C809G 3756 BAP1 C91S 2789 PIK3CA C971R -3385 CD44 CD44s 1660 MET D1010H 1651 MET D1010N 1649 MET D1010Y @@ -800,7 +799,6 @@ variant_id gene_name variant_name 496 ERBB2 L866M 2330 ERBB2 L869R 3670 PIK3CA L938* -3483 LGR5 LGR5FL 937 PIK3CA M1043I 2940 PRPS1 M115T 3301 SPOP M117I @@ -878,7 +876,6 @@ variant_id gene_name variant_name 1899 EGFR N842S 873 ERBB2 N857S 3532 PTEN N94I -2408 BRAF Non-V600 2837 MAP2K1 P124L 82 MAP2K1 P124S 734 MLH1 P138T @@ -1235,7 +1232,6 @@ variant_id gene_name variant_name 262 ABCB1 S893T 3652 KDR S925F 3645 PIM1 S97N -536 SULT1E1 SNP 4330 ALK T1151K 1493 ALK T1151M 743 MLH1 T117M @@ -1279,8 +1275,6 @@ variant_id gene_name variant_name 1463 EGFR T847I 1467 EGFR T854A 871 ERBB2 T862A -729 UGT1A1 UGT1A1*28 -732 UGT1A1 UGT1A1*60 701 ERBB3 V104M 2624 TP53 V135A 1254 TP53 V143A @@ -1476,4 +1470,3 @@ variant_id gene_name variant_name 1642 POLD1 Y956N 3045 VHL p.F76del 3310 HDAC9 p.L33R -3512 BRAF p61BRAF(V600E) diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 77937ff0..61680211 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -162,7 +162,7 @@ " VariantCategory.EXPRESSION: {\n", " \"overexpression\", \"expression\", \"underexpression\", \"serum levels\", \n", " \"transcription levels\", \"autocrine activation\", \"tnc-l\", \n", - " \"top2a/90\", \"low ratio of vegf165b/vegftotal\"\n", + " \"top2a/90\", \"low ratio of vegf165b/vegftotal\", \"lgr5fl\"\n", " },\n", " VariantCategory.EPIGENETIC_MODIFICATION: {\n", " \"methylation\", \"promoter hypermethylation\", \"promoter methylation\", \n", @@ -195,7 +195,7 @@ " \"loss-of-modification\", \"gbrcam\", \"kras4a\", \"kras4b\",\n", " },\n", " VariantCategory.GENOTYPES_EASY: {\n", - " \"diplotypes\", \"wild type\", \"wildtype\"\n", + " \"diplotypes\", \"wild type\", \"wildtype\", \"p61braf(v600e)\"\n", " },\n", " VariantCategory.GENOTYPES_COMPOUND: {\n", " \"loss of heterozygosity\", \"biallelic inactivation\", \"bi-allelic inactivation\",\n", @@ -204,7 +204,7 @@ " VariantCategory.REGION_DEFINED_VAR: {\n", " \"deleterious mutation\", \"domain mutation\", \"polymorphism\", \n", " \"non-p-loop mutation\", \"p-loop mutation\", \"3' utr mutation\", \"alteration\",\n", - " \"t17 deletion\", \"exon\", \"ex19 del l858r\", \"promoter mutation\"\n", + " \"t17 deletion\", \"exon\", \"ex19 del l858r\", \"promoter mutation\", \"non-v600\"\n", " },\n", " VariantCategory.INCOMPLETE_VAR: {\n", " \"delnvtap\"\n", @@ -297,7 +297,7 @@ " categories = set()\n", " if v_name_lower in {\"loss\", \"deletion\"}:\n", " categories.add(VariantCategory.GENE_FUNC)\n", - " elif v_name_lower in {\"mutation\", \"mutations\"}:\n", + " elif v_name_lower in {\"mutation\", \"mutations\", \"snp\"}:\n", " categories.add(VariantCategory.REGION_DEFINED_VAR)\n", " else:\n", " if v_name_lower.endswith(\"deletion and mutation\"):\n", @@ -333,7 +333,7 @@ " )):\n", " categories.add(VariantCategory.OTHER)\n", "\n", - " if re.match(r\"cd\\d+v\\d+\", v_name_lower):\n", + " if re.match(r\"cd\\d+v?\\d+\", v_name_lower):\n", " categories.add(VariantCategory.EXPRESSION)\n", "\n", " if any((\n", @@ -352,6 +352,9 @@ " )): \n", " categories.add(VariantCategory.COPY_NUMBER)\n", "\n", + " if re.match(r\"\\w+[^fs]\\*\\d+$\", v_name_lower): # ex: UGT1A1*28\n", + " categories.add(VariantCategory.GENOTYPES_EASY)\n", + "\n", " for k, v in not_supported.items():\n", " if {x for x in v if x in v_name_lower}:\n", " categories.add(k)\n", @@ -521,7 +524,7 @@ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 1185'" + "'Total number of variants we do not support in the Variation Normalizer: 1192'" ] }, "execution_count": 14, @@ -550,16 +553,16 @@ { "data": { "text/plain": [ - "{'FUSION': 312,\n", - " 'EXPRESSION': 286,\n", - " 'REGION_DEFINED_VAR': 178,\n", + "{'FUSION': 307,\n", + " 'EXPRESSION': 288,\n", + " 'REGION_DEFINED_VAR': 180,\n", " 'PROTEIN_CONS': 128,\n", + " 'OTHER': 88,\n", " 'GENE_FUNC': 86,\n", - " 'OTHER': 83,\n", " 'REARRANGEMENTS': 48,\n", " 'COPY_NUMBER': 31,\n", " 'EPIGENETIC_MODIFICATION': 15,\n", - " 'GENOTYPES_EASY': 7,\n", + " 'GENOTYPES_EASY': 10,\n", " 'GENOTYPES_COMPOUND': 6,\n", " 'INCOMPLETE_VAR': 5}" ] @@ -590,16 +593,16 @@ { "data": { "text/plain": [ - "{'FUSION': '9.00%',\n", - " 'EXPRESSION': '8.25%',\n", - " 'REGION_DEFINED_VAR': '5.14%',\n", + "{'FUSION': '8.86%',\n", + " 'EXPRESSION': '8.31%',\n", + " 'REGION_DEFINED_VAR': '5.19%',\n", " 'PROTEIN_CONS': '3.69%',\n", + " 'OTHER': '2.54%',\n", " 'GENE_FUNC': '2.48%',\n", - " 'OTHER': '2.39%',\n", " 'REARRANGEMENTS': '1.38%',\n", " 'COPY_NUMBER': '0.89%',\n", " 'EPIGENETIC_MODIFICATION': '0.43%',\n", - " 'GENOTYPES_EASY': '0.20%',\n", + " 'GENOTYPES_EASY': '0.29%',\n", " 'GENOTYPES_COMPOUND': '0.17%',\n", " 'INCOMPLETE_VAR': '0.14%'}" ] @@ -621,7 +624,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 34.19% of the total variants'" + "'The Variation Normalizer does not support 34.39% of the total variants'" ] }, "execution_count": 17, @@ -649,7 +652,7 @@ { "data": { "text/plain": [ - "{'protein': 1478, 'genomic': 425}" + "{'protein': 1471, 'genomic': 425}" ] }, "execution_count": 18, @@ -669,7 +672,7 @@ { "data": { "text/plain": [ - "1903" + "1896" ] }, "execution_count": 19, @@ -690,7 +693,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer SHOULD be able to normalize 54.90% of the total variants'" + "'The Variation Normalizer SHOULD be able to normalize 54.70% of the total variants'" ] }, "execution_count": 20, @@ -720,7 +723,7 @@ { "data": { "text/plain": [ - "{'protein': 79, 'genomic': 3}" + "{'protein': 72, 'genomic': 3}" ] }, "execution_count": 21, @@ -740,7 +743,7 @@ { "data": { "text/plain": [ - "82" + "75" ] }, "execution_count": 22, @@ -761,7 +764,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to normalize 2.3658395845354874% of the total variants'" + "'The Variation Normalizer was unable to normalize 2.163877668782458% of the total variants'" ] }, "execution_count": 23, @@ -852,7 +855,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to tokenize 22 variants (0.63% of the total variants).'" + "'The Variation Normalizer was unable to tokenize 15 variants (0.43% of the total variants).'" ] }, "execution_count": 26, diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index 21962310..0536b7ef 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -128,6 +128,7 @@ variant_id gene_name variant_name category 2630 CBFA2T3 CBFA2T3::GLIS2 Fusion 431 CBFB CBFB::MYH11 Fusion 626 RET CCDC6::RET Fusion +3385 CD44 CD44s Expression 341 CD44 CD44s Expression Expression 3386 CD44 CD44v5 and CD44v6 Expression 3373 CD44 CD44v6 Other @@ -136,11 +137,11 @@ variant_id gene_name variant_name category 3369 CD44 CD44v8-10 Expression 3368 CD44 CD44v9 Other 3367 CD44 CD4v8-v10 and CD44v3-v10 Expression -2771 NRG1 CD74::NRG1 Fusion -465 ROS1 CD74::ROS1 G2032R Fusion -518 ROS1 CD74::ROS1 G2101A Fusion -516 ROS1 CD74::ROS1 L2026M Fusion -517 ROS1 CD74::ROS1 L2155S Fusion +2771 NRG1 CD74::NRG1 Other +465 ROS1 CD74::ROS1 G2032R Other +518 ROS1 CD74::ROS1 G2101A Other +516 ROS1 CD74::ROS1 L2026M Other +517 ROS1 CD74::ROS1 L2155S Other 3474 CEACAM1 CEACAM1-L Other 3475 CEACAM1 CEACAM1-S Other 3270 ABL1 CENPC::ABL1 Fusion @@ -545,6 +546,7 @@ variant_id gene_name variant_name category 1011 EGFR L747_P753>Q Rearrangements 4221 AKT2 L78_Q79ins Rearrangements 1866 EGFR L861 Protein Consequence +3483 LGR5 LGR5FL Expression 1278 NTRK1 LMNA::NTRK1 Fusion 1282 NTRK1 LMNA::NTRK1 G595R and G667C Fusion 3225 NTRK1 LMNA::NTRK1 e11-e10 Fusion @@ -735,6 +737,7 @@ variant_id gene_name variant_name category 3111 NUP98 NUP98::KDM5A Fusion 2593 NUP98 NUP98::NSD1 Fusion 2376 ABL1 Non-P-Loop Mutation Region Defined Variant +2408 BRAF Non-V600 Region Defined Variant 3297 VHL Null (11 kb 3' deletion) Gene Function 2016 VHL Null (Complete deletion) Gene Function 2182 VHL Null (Large deletion) Gene Function @@ -1021,6 +1024,7 @@ variant_id gene_name variant_name category 3986 SH3PXD2A SH3PXD2A::HTRA1 Fusion 2166 NRG1 SLC3A2::NRG1 Fusion 2975 JAK2 SMU1::JAK2 Fusion +536 SULT1E1 SNP Region Defined Variant 495 MDM2 SNP309 Protein Consequence 2976 JAK2 SNX29::JAK2 Fusion 2678 ABL1 SNX2::ABL1 Fusion @@ -1068,6 +1072,8 @@ variant_id gene_name variant_name category 4026 FGFR2 Translocation Rearrangements 4027 FGFR3 Translocation Rearrangements 223 TP53 Truncating Mutation Protein Consequence +729 UGT1A1 UGT1A1*28 Genotypes Easy +732 UGT1A1 UGT1A1*60 Genotypes Easy 417 THBS2 UNDEREXPRESSION Expression 441 LEPR UNDEREXPRESSION Expression 446 KRT18 UNDEREXPRESSION Expression @@ -1163,6 +1169,7 @@ variant_id gene_name variant_name category 2411 SDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC) Copy Number 3057 GATA1 p.Ser51Alafs*86 Protein Consequence 272 CDKN2A p16 Expression Expression +3512 BRAF p61BRAF(V600E) Genotypes Easy 3313 CDKN1A rs1059234 Other 2787 PRNCR1 rs1456315 Other 256 KIT rs17084733 Other diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index c7c3e8ec..1079585f 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -5,7 +5,6 @@ variant_id query query_type exception_raised message warnings 2844 MITF Amplificatioin protein False unable to normalize ['Unable to tokenize Amplificatioin'] 248 TERT C228T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4004 TERT C250T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3385 CD44 CD44s protein False unable to normalize ['Unable to tokenize CD44s'] 3706 AR D221H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3713 AR D528G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2833 NECTIN4 D594H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -40,11 +39,9 @@ variant_id query query_type exception_raised message warnings 1309 ERBB2 L638S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3717 AR L744F protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1007 EGFR L747_T751delLREAT protein False unable to normalize ['Unable to tokenize L747_T751delLREAT'] -3483 LGR5 LGR5FL protein False unable to normalize ['Unable to tokenize LGR5FL'] 3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3719 AR N756D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1581 EGFR N771>GY protein False unable to normalize ['Unable to tokenize N771>GY'] -2408 BRAF Non-V600 protein False unable to normalize ['Unable to tokenize Non-V600'] 3711 AR P340L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3712 AR P504L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1497 KIT P551_E554delPMYE protein False unable to normalize ['Unable to tokenize P551_E554delPMYE'] @@ -62,12 +59,9 @@ variant_id query query_type exception_raised message warnings 3709 AR S296R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 891 EGFR S752_I759delSPKANKEI protein False unable to normalize ['Unable to tokenize S752_I759delSPKANKEI'] 3723 AR S759P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -536 SULT1E1 SNP protein False unable to normalize ['Unable to tokenize SNP'] 3675 NOTCH1 T2512A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1546 KIT T417_D419DELTYDINSI protein False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] 3445 BRAF T598I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -729 UGT1A1 UGT1A1*28 protein False unable to normalize ['Unable to tokenize UGT1A1*28'] -732 UGT1A1 UGT1A1*60 protein False unable to normalize ['Unable to tokenize UGT1A1*60'] 2624 TP53 V135A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3452 BRAF V599D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3446 BRAF V599E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -80,4 +74,3 @@ variant_id query query_type exception_raised message warnings 1542 KIT Y553_W557DELYEVQW protein False unable to normalize ['Unable to tokenize Y553_W557DELYEVQW'] 3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V protein False unable to normalize ['Unable to tokenize Y646F,', 'Unable to tokenize Y646N,', 'Unable to tokenize Y646S,', 'Unable to tokenize Y646H,', 'Unable to tokenize Y646C,', 'Unable to tokenize A682G,'] 3724 AR Y763C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3512 BRAF p61BRAF(V600E) protein False unable to normalize ['Unable to tokenize p61BRAF(V600E)'] From f775a703fd268f27d628fa1d36336c2371f43e3a Mon Sep 17 00:00:00 2001 From: korikuzma Date: Thu, 23 Feb 2023 13:18:33 -0500 Subject: [PATCH 12/29] wip: initial analysis for moa --- notebooks/analysis/moa/all_queries.csv | 180 +++++ notebooks/analysis/moa/moa_analysis.ipynb | 718 +++++++++++++++++- notebooks/analysis/moa/no_query.csv | 2 + .../analysis/moa/not_supported_variants.csv | 245 ++++++ .../moa/unable_to_normalize_queries.csv | 1 + 5 files changed, 1119 insertions(+), 27 deletions(-) create mode 100644 notebooks/analysis/moa/all_queries.csv create mode 100644 notebooks/analysis/moa/no_query.csv create mode 100644 notebooks/analysis/moa/not_supported_variants.csv create mode 100644 notebooks/analysis/moa/unable_to_normalize_queries.csv diff --git a/notebooks/analysis/moa/all_queries.csv b/notebooks/analysis/moa/all_queries.csv new file mode 100644 index 00000000..195e73b6 --- /dev/null +++ b/notebooks/analysis/moa/all_queries.csv @@ -0,0 +1,180 @@ +variant_id query +71 ABL1 p.T315I +73 ABL1 p.T315A +75 ABL1 p.F317L +76 ABL1 p.F317V +77 ABL1 p.F317I +78 ABL1 p.F317C +80 ABL1 p.E255K +81 ABL1 p.E255V +82 ABL1 p.Y253H +83 ABL1 p.F359V +84 ABL1 p.F359C +85 ABL1 p.F359I +97 ABL1 p.V299L +108 ABL1 p.T315I +112 AKT1 p.E17K +115 ALK p.G1202R +116 ALK p.F1174C +117 ALK p.L1196M +118 ALK p.G1269A +119 ALK p.S1206Y +120 AR p.T878A +121 AR p.L702H +122 ARAF p.S214C +134 ATM p.A1127D +146 BCOR p.N1425S +149 BRAF p.V600E +151 BRAF p.V600K +250 DNMT3A p.R882H +254 EGFR p.T790M +267 EGFR p.L858R +284 EGFR p.L858R +286 EGFR p.L858R +294 ERRFI1 p.E384* +300 EZH2 p.Y646* +301 EZH2 p.Y646F +302 EZH2 p.Y646N +303 EZH2 p.A682G +304 EZH2 p.A692V +307 FGFR3 p.R248C +308 FGFR3 p.S249C +309 FGFR3 p.G370C +310 FGFR3 p.Y373C +317 FLT3 p.F691L +318 FLT3 p.K663Q +319 GATA3 p.M294K +323 IDH1 p.R132H +324 IDH1 p.R132C +329 IDH2 p.R140Q +330 IDH2 p.R172S +331 IDH2 p.R172K +334 IDH2 p.R140Q +338 JAK1 p.V656F +339 JAK1 p.A634D +341 JAK2 p.V617F +342 JAK3 p.A572T +343 JAK3 p.M511I +344 JAK3 p.L857Q +352 KIT p.T670I +353 KIT p.V654A +361 KIT p.W557C +362 KIT p.W557G +363 KIT p.W557R +364 KIT p.V559A +365 KIT p.V559G +366 KIT p.L576P +367 KIT p.K642E +369 KIT p.D816H +374 KIT p.D816V +387 KRAS p.G12C +390 KRAS p.G12D +402 MAP2K1 p.P124L +403 MAP2K1 p.Q56P +408 MAP2K1 p.C121S +410 MAP2K2 p.Q60P +411 MAPK1 p.E322K +413 MET p.T1010I +421 MPL p.W515L +432 NRAS p.G12A +433 NRAS p.G12C +434 NRAS p.G12D +435 NRAS p.G12R +436 NRAS p.G12S +437 NRAS p.G12V +438 NRAS p.G13A +439 NRAS p.G13D +440 NRAS p.G13R +441 NRAS p.G13V +442 NRAS p.Q61E +443 NRAS p.Q61H +444 NRAS p.Q61L +446 NRAS p.Q61P +447 NRAS p.Q61R +459 PDGFRA p.D842V +467 PIK3CA p.E545Q +468 PIK3CA p.C420R +469 PIK3CA p.E542K +470 PIK3CA p.E542Q +471 PIK3CA p.E545A +472 PIK3CA p.E545D +474 PIK3CA p.E545G +475 PIK3CA p.E545K +476 PIK3CA p.G1049R +477 PIK3CA p.G1049S +478 PIK3CA p.H1047L +479 PIK3CA p.H1047R +480 PIK3CA p.H1047Y +481 PIK3CA p.H701P +482 PIK3CA p.M1043I +484 PIK3CA p.P539R +485 PIK3CA p.Q546K +486 PIK3CA p.Y1021C +488 POLD1 p.D316H +489 POLD1 p.D316G +490 POLD1 p.R409W +491 POLD1 p.L474P +495 POLE p.L424V +529 RET p.V804M +530 RET p.M918T +535 SETBP1 p.E858K +536 SETBP1 p.T864M +538 SETBP1 p.D868N +539 SETBP1 p.D868Y +540 SETBP1 p.S869C +541 SETBP1 p.G870S +543 SF3B1 p.E622Q +544 SF3B1 p.E622D +545 SF3B1 p.Y623C +546 SF3B1 p.R625C +547 SF3B1 p.R625H +548 SF3B1 p.N626H +549 SF3B1 p.N626Y +550 SF3B1 p.N626D +551 SF3B1 p.H662R +552 SF3B1 p.T663P +553 SF3B1 p.K666N +554 SF3B1 p.K666T +555 SF3B1 p.K666E +556 SF3B1 p.K700E +558 SF3B1 p.G740E +559 SF3B1 p.G740V +560 SF3B1 p.G742D +561 SF3B1 p.D781E +654 IL12RB1 p.Q32* +655 IL12RB1 p.Q542* +661 MRE11 p.R576* +680 POT1 p.R363* +696 AR Amplification +701 AURKA Amplification +703 AURKB Amplification +704 BRAF Amplification +707 CCND1 Amplification +708 CCND1 Amplification +709 CCNE1 Amplification +710 CD274 Amplification +716 CDK4 Amplification +724 CRKL Amplification +725 EGFR Amplification +726 ERBB2 Amplification +744 ESR1 Amplification +746 FGFR1 Amplification +750 FGFR2 Amplification +754 HIF1a Amplification +756 KIT Amplification +757 MDM2 Amplification +758 MET Amplification +762 MIR17HG Amplification +764 MRE11 Amplification +765 MYC Amplification +766 MYC Amplification +767 PAK1 Amplification +770 PIK3CA Amplification +780 TPX2 Amplification +854 MAP2K4 Amplification +857 MAPK7 Amplification +858 MYOCD Amplification +859 PDGFRA Amplification +868 IDH1 p.R132G +869 IDH1 p.R132S +870 IDH1 p.R132L diff --git a/notebooks/analysis/moa/moa_analysis.ipynb b/notebooks/analysis/moa/moa_analysis.ipynb index 68414d60..88a60e4d 100644 --- a/notebooks/analysis/moa/moa_analysis.ipynb +++ b/notebooks/analysis/moa/moa_analysis.ipynb @@ -2,7 +2,7 @@ "cells": [ { "cell_type": "code", - "execution_count": null, + "execution_count": 61, "metadata": {}, "outputs": [], "source": [ @@ -19,9 +19,20 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 62, "metadata": {}, - "outputs": [], + "outputs": [ + { + "data": { + "text/plain": [ + "True" + ] + }, + "execution_count": 62, + "metadata": {}, + "output_type": "execute_result" + } + ], "source": [ "# Environment variables are set for gene-normalizer dynamodb instance and \n", "# UTA DB credentials\n", @@ -30,16 +41,16 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 63, "metadata": {}, "outputs": [], "source": [ - "# query_handler = QueryHandler()" + "query_handler = QueryHandler()" ] }, { "cell_type": "code", - "execution_count": null, + "execution_count": 64, "metadata": {}, "outputs": [], "source": [ @@ -50,22 +61,106 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 65, + "metadata": {}, + "outputs": [], + "source": [ + "class VariantCategory(str, Enum):\n", + " \"\"\"Create enum for the kind of variants that are in CIViC.\"\"\"\n", + " EXPRESSION = \"Expression\"\n", + " EPIGENETIC_MODIFICATION = \"Epigenetic Modification\"\n", + " FUSION = \"Fusion\"\n", + " PROTEIN_CONS = \"Protein Consequence\"\n", + " GENE_FUNC = \"Gene Function\"\n", + " REARRANGEMENTS = \"Rearrangements\"\n", + " COPY_NUMBER = \"Copy Number\"\n", + " OTHER = \"Other\"\n", + " GENOTYPES_EASY = \"Genotypes Easy\"\n", + " GENOTYPES_COMPOUND = \"Genotypes Compound\"\n", + " REGION_DEFINED_VAR = \"Region Defined Variant\"\n", + " INCOMPLETE_VAR = \"Incomplete Variants\"\n", + " " + ] + }, + { + "cell_type": "code", + "execution_count": 66, + "metadata": {}, + "outputs": [], + "source": [ + "moa_ft_to_variant_categories = {\n", + " \"rearrangement\": VariantCategory.REARRANGEMENTS,\n", + " \"somatic_variant\": VariantCategory.PROTEIN_CONS,\n", + " \"germline_variant\": VariantCategory.PROTEIN_CONS,\n", + " \"copy_number\": VariantCategory.COPY_NUMBER,\n", + " \"microsatellite_stability\": VariantCategory.REARRANGEMENTS,\n", + " \"mutational_signature\": VariantCategory.OTHER,\n", + " \"mutational_burden\": VariantCategory.OTHER,\n", + " \"neoantigen_burden\": VariantCategory.EXPRESSION,\n", + " \"knockdown\": VariantCategory.EXPRESSION,\n", + " \"silencing\": VariantCategory.EXPRESSION,\n", + " \"aneuploidy\": VariantCategory.COPY_NUMBER\n", + "}" + ] + }, + { + "cell_type": "code", + "execution_count": 67, "metadata": {}, "outputs": [], "source": [ - "no_feature_found = dict()\n", + "\n", + "# This file contains MOA Variants where there are no queries available. \n", + "no_query_wf = open(\"no_query.csv\", \"w\")\n", + "no_query_wr = csv.writer(no_query_wf, delimiter=\"\\t\")\n", + "no_query_wr.writerow([\"variant_id\", \"feature\"])\n", + "\n", + "# This file contains all queries we SHOULD be able to normalize\n", + "all_queries_wf = open(\"all_queries.csv\", \"w\")\n", + "all_queries_wr = csv.writer(all_queries_wf, delimiter=\"\\t\")\n", + "all_queries_wr.writerow([\"variant_id\", \"query\"])\n", + "\n", + "# This file contains MOAlmanac Variants we do not currently support in Variation Normalizer.\n", + "# In these cases, we do not even attempt to try to normalize\n", + "not_supported_wf = open(\"not_supported_variants.csv\", \"w\")\n", + "not_supported_wr = csv.writer(not_supported_wf, delimiter=\"\\t\")\n", + "not_supported_wr.writerow([\"variant_id\", \"query\", \"moa_feature_type\", \"category\"])\n", + "\n", + "# This file contains MOAlmanac Variant queries that we were not able to normalize.\n", + "unable_to_normalize_wf = open(\"unable_to_normalize_queries.csv\", \"w\")\n", + "unable_to_normalize_wr = csv.writer(unable_to_normalize_wf, delimiter=\"\\t\")\n", + "unable_to_normalize_wr.writerow([\"variant_id\", \"query\", \"moa_feature_type\", \n", + " \"exception_raised\", \"message\", \"warnings\"])\n", + "\n", + "# Category name for variants we do not support: number of variants we found\n", + "not_supported_feature_counts = {c: 0 for c in VariantCategory.__members__}\n", + "\n", + "# Keep track of total counts\n", + "total_variants = 0\n", + "no_query_total = 0\n", + "should_be_able_to_normalize_total = 0\n", + "can_normalize_total = 0\n", + "unable_to_normalize_total = 0\n", + "exception_total = 0\n", + "\n", + "queries_found = dict()\n", + "\n", "for v in variants_resp:\n", + " total_variants += 1\n", + " variant_id = v[\"feature_id\"]\n", " variant_record = {\n", - " \"id\": v[\"feature_id\"]\n", + " \"id\": variant_id\n", " }\n", " variant_record.update(v[\"attributes\"][0])\n", "\n", " feature_type = variant_record[\"feature_type\"]\n", " supported = False\n", + "\n", + " feature = None\n", " if feature_type == \"rearrangement\":\n", - " feature = \"{}{}{}\".format(variant_record[\"gene1\"] if variant_record.get(\"gene1\") else \"\",\n", + " feature = \"{}{}{}{}\".format(variant_record[\"gene1\"] if variant_record.get(\"gene1\") else \"\",\n", " f\"--{variant_record['gene2']}\" if variant_record.get(\"gene2\") else \"\",\n", + " f\" {variant_record['locus']}\" if variant_record.get(\"locus\") else \"\",\n", " f\" {variant_record['rearrangement_type']}\"\n", " if variant_record.get(\"rearrangement_type\") else \"\")\n", " elif feature_type == \"somatic_variant\":\n", @@ -74,16 +169,22 @@ " if variant_record.get(\"protein_change\") else \"\")\n", " supported = True\n", " elif feature_type == \"germline_variant\":\n", - " # TODO: Check this\n", - " feature = \"{}{}\".format(variant_record[\"gene\"], \" (Pathogenic)\"\n", - " if variant_record[\"pathogenic\"] == \"1.0\" else \"\")\n", + " feature = \"{}{}\".format(variant_record[\"gene\"] if variant_record.get(\"gene\") else \"\",\n", + " f\" {variant_record['protein_change']}\"\n", + " if variant_record.get(\"protein_change\") else \"\")\n", + " supported = True\n", " elif feature_type == \"copy_number\":\n", + " # These are all {gene} Amplification|Deletion\n", " feature = \"{} {}\".format(variant_record[\"gene\"], variant_record[\"direction\"])\n", + " if variant_record[\"direction\"] == \"Amplification\":\n", + " supported = True\n", " elif feature_type == \"microsatellite_stability\":\n", + " # The only one is MSI-High\n", " feature = \"{}\".format(variant_record.get(\"status\"))\n", " elif feature_type == \"mutational_signature\":\n", " csn = variant_record[\"cosmic_signature_number\"]\n", - " feature = \"COSMIC Signature {}\".format(csn)\n", + " version = variant_record[\"cosmic_signature_version\"]\n", + " feature = \"COSMIC Signature (version {}) {}\".format(version, csn)\n", " elif feature_type == \"mutational_burden\":\n", " clss = variant_record[\"classification\"]\n", " min_mut = variant_record[\"minimum_mutations\"]\n", @@ -93,35 +194,598 @@ " else (f\" (>= {mut_per_mb} mutations/Mb)\"\n", " if mut_per_mb else \"\"))\n", " elif feature_type == \"neoantigen_burden\":\n", + " # Doesn't seem like there are any of these\n", " feature = \"{}\".format(variant_record[\"classification\"])\n", " elif feature_type == \"knockdown\" or feature_type == \"silencing\":\n", " feature = \"{}{}\".format(variant_record[\"gene\"], f\" ({variant_record['technique']})\"\n", " if variant_record[\"technique\"] else \"\")\n", - " else:\n", + " elif feature_type == \"aneuploidy\":\n", + " # The only one is Whole genome doubling\n", " feature = \"{}\".format(variant_record[\"event\"])\n", " \n", " if not feature:\n", - " no_feature_found[variant_record[\"id\"]] = v\n", - "\n", - " if len(feature.split()) == 1:\n", - " # A lot of these are just Gene names\n", + " no_query_total += 1\n", + " no_query_wr.writerow([variant_id, v])\n", " continue\n", "\n", - " if not supported:\n", - " # Do not even try to normalizer\n", - " continue\n", + " category_name = None\n", + " if any((\n", + " re.match(r\".+fs\\*\\d+$\", feature, re.IGNORECASE),\n", + " re.match(r\".+\\d+$\", feature, re.IGNORECASE)\n", + " )):\n", + " supported = False\n", + " category_name = VariantCategory.PROTEIN_CONS\n", " \n", - " variant_record[\"feature\"] = feature\n", - " # TODO: analysis\n", - "\n" + " if not supported or len(feature.split()) == 1:\n", + " if not category_name:\n", + " category_name = moa_ft_to_variant_categories[feature_type]\n", + " not_supported_feature_counts[category_name.name] += 1\n", + " not_supported_wr.writerow([variant_id, feature, feature_type, category_name])\n", + " continue\n", + "\n", + " should_be_able_to_normalize_total += 1\n", + " all_queries_wr.writerow([variant_id, feature])\n", + " \n", + " if feature in queries_found:\n", + " queries_found[feature].append(variant_id)\n", + " else:\n", + " queries_found[feature] = [variant_id]\n", + "\n", + " try:\n", + " variation_norm_resp = await query_handler.normalize_handler.normalize(feature)\n", + " if not variation_norm_resp.variation_descriptor:\n", + " unable_to_normalize_wr.writerow([variant_id, feature, feature_type, False, \n", + " \"unable to normalize\", \n", + " variation_norm_resp.warnings])\n", + " unable_to_normalize_total += 1\n", + " else:\n", + " can_normalize_total += 1\n", + " except Exception as e:\n", + " unable_to_normalize_wr.writerow([variant_id, feature, feature_type, True,\n", + " str(e), None])\n", + " exception_total += 1\n", + "\n", + "# Close files\n", + "no_query_wf.close()\n", + "all_queries_wf.close()\n", + "not_supported_wf.close()\n", + "unable_to_normalize_wf.close()" ] }, { "cell_type": "code", - "execution_count": null, + "execution_count": 68, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'Total number of variants in MOAlmanac: 424'" + ] + }, + "execution_count": 68, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"Total number of variants in MOAlmanac: {total_variants}\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "# Variants that we could not find queries for" + ] + }, + { + "cell_type": "code", + "execution_count": 69, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "1" + ] + }, + "execution_count": 69, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "no_query_total" + ] + }, + { + "cell_type": "code", + "execution_count": 70, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'0.24% of the total features had no queries'" + ] + }, + "execution_count": 70, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"{no_query_total / total_variants * 100:.2f}% of the total features had no queries\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "# Variants we do not support" + ] + }, + { + "cell_type": "code", + "execution_count": 71, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'Total number of variants we do not support in the Variation Normalizer: 244'" + ] + }, + "execution_count": 71, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "do_not_support_total_sum = sum(not_supported_feature_counts.values())\n", + "f\"Total number of variants we do not support in the Variation Normalizer: {do_not_support_total_sum}\"" + ] + }, + { + "cell_type": "code", + "execution_count": 72, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer does not support 57.55% of the total variants'" + ] + }, + "execution_count": 72, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer does not support {do_not_support_total_sum / total_variants * 100:.2f}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "Below are the total number of variants for each MOA Feature Type that we do not support" + ] + }, + { + "cell_type": "code", + "execution_count": 73, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'PROTEIN_CONS': 176,\n", + " 'REARRANGEMENTS': 36,\n", + " 'COPY_NUMBER': 17,\n", + " 'EXPRESSION': 11,\n", + " 'OTHER': 4,\n", + " 'EPIGENETIC_MODIFICATION': 0,\n", + " 'FUSION': 0,\n", + " 'GENE_FUNC': 0,\n", + " 'GENOTYPES_EASY': 0,\n", + " 'GENOTYPES_COMPOUND': 0,\n", + " 'REGION_DEFINED_VAR': 0,\n", + " 'INCOMPLETE_VAR': 0}" + ] + }, + "execution_count": 73, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "sorted_not_sup_counts = dict(sorted(not_supported_feature_counts.items(), key=lambda x: x[1], reverse=True))\n", + "sorted_not_sup_counts" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "Below is the total percentage of variants for each MOA Feature Type that we do not support" + ] + }, + { + "cell_type": "code", + "execution_count": 74, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'PROTEIN_CONS': '41.51%',\n", + " 'REARRANGEMENTS': '8.49%',\n", + " 'COPY_NUMBER': '4.01%',\n", + " 'EXPRESSION': '2.59%',\n", + " 'OTHER': '0.94%',\n", + " 'EPIGENETIC_MODIFICATION': '0.00%',\n", + " 'FUSION': '0.00%',\n", + " 'GENE_FUNC': '0.00%',\n", + " 'GENOTYPES_EASY': '0.00%',\n", + " 'GENOTYPES_COMPOUND': '0.00%',\n", + " 'REGION_DEFINED_VAR': '0.00%',\n", + " 'INCOMPLETE_VAR': '0.00%'}" + ] + }, + "execution_count": 74, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "{k: f\"{v / total_variants * 100:.2f}%\" for k, v in sorted_not_sup_counts.items()}" + ] + }, + { + "cell_type": "code", + "execution_count": 75, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer does not support 57.55% of the total variants'" + ] + }, + "execution_count": 75, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer does not support {do_not_support_total_sum / total_variants * 100:.2f}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "# Variants we should be able to normalize" + ] + }, + { + "cell_type": "code", + "execution_count": 76, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "179" + ] + }, + "execution_count": 76, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "should_be_able_to_normalize_total" + ] + }, + { + "cell_type": "code", + "execution_count": 77, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer SHOULD be able to normalize 42.22% of the total variants'" + ] + }, + "execution_count": 77, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer SHOULD be able to normalize {should_be_able_to_normalize_total / total_variants * 100:.2f}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "# Variants we were not able to normalize\n", + "\n", + "Either due to a bug or an unsupported query type in Variation Normalizer" + ] + }, + { + "cell_type": "code", + "execution_count": 78, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "0" + ] + }, + "execution_count": 78, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "unable_to_normalize_total" + ] + }, + { + "cell_type": "code", + "execution_count": 79, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer was unable to normalize 0.0% of the total variants'" + ] + }, + "execution_count": 79, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer was unable to normalize {unable_to_normalize_total / total_variants * 100}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Breakdown of the variants we weren't able to normalize\n", + "\n", + "In this section, we breakdown the reasons on why we weren't able to normalize variants." + ] + }, + { + "cell_type": "code", + "execution_count": 80, "metadata": {}, "outputs": [], - "source": [] + "source": [ + "unable_to_tokenize = 0\n", + "unable_to_find_valid = 0\n", + "other = 0\n", + "with open(\"unable_to_normalize_queries.csv\", \"r\") as f:\n", + " reader = csv.reader(f, delimiter=\"\\t\")\n", + " next(reader)\n", + " for row in reader:\n", + " if \"Unable to find valid result\" in row[-1]:\n", + " unable_to_find_valid += 1\n", + " elif \"Unable to tokenize\" in row[-1]:\n", + " unable_to_tokenize += 1\n", + " else:\n", + " other += 1" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "### Due to not passing validation checks\n", + "\n", + "The Variation Normalizer performs validation checks on the input query (such as reference sequence). If these validation checks fail, then the input query will fail to normalize." + ] + }, + { + "cell_type": "code", + "execution_count": 81, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer found 0 invalid variants (This is 0.00% of the total variants).'" + ] + }, + "execution_count": 81, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer found {unable_to_find_valid} invalid variants (This is {unable_to_find_valid / total_variants * 100:.2f}% of the total variants).\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "### Due to tokenization \n", + "\n", + "The Variation Normalizer will tokenize the input query to determine the kind of token. It is limited in the kinds of tokens it accepts, so these tokens are not yet supported in the Variation Normalizer. " + ] + }, + { + "cell_type": "code", + "execution_count": 82, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer was unable to tokenize 0 variants (0.00% of the total variants).'" + ] + }, + "execution_count": 82, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer was unable to tokenize {unable_to_tokenize} variants ({unable_to_tokenize / total_variants * 100:.2f}% of the total variants).\"" + ] + }, + { + "cell_type": "code", + "execution_count": 83, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.00% of the total variants).'" + ] + }, + "execution_count": 83, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer was unable to normalize {other} variants due to other issues (This is {other / total_variants * 100:.2f}% of the total variants).\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Variant queries that raised an exception during normalization" + ] + }, + { + "cell_type": "code", + "execution_count": 84, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer raised an exception for 0.00% of the total variants'" + ] + }, + "execution_count": 84, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer raised an exception for {exception_total / total_variants * 100:.2f}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "# Variants we were able to normalize" + ] + }, + { + "cell_type": "code", + "execution_count": 85, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "179" + ] + }, + "execution_count": 85, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "can_normalize_total" + ] + }, + { + "cell_type": "code", + "execution_count": 86, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer successfully normalized 42.22% of the total variants'" + ] + }, + "execution_count": 86, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer successfully normalized {can_normalize_total / total_variants * 100:.2f}% of the total variants\"" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "## Duplicate Queries\n", + "\n", + "These are duplicate queries found in MOA. The values are the associated variant IDs. " + ] + }, + { + "cell_type": "code", + "execution_count": 87, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "{'ABL1 p.T315I': [71, 108],\n", + " 'EGFR p.L858R': [267, 284, 286],\n", + " 'IDH2 p.R140Q': [329, 334],\n", + " 'CCND1 Amplification': [707, 708],\n", + " 'MYC Amplification': [765, 766]}" + ] + }, + "execution_count": 87, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "{k:v for k,v in queries_found.items() if len(v) > 1}" + ] }, { "cell_type": "code", diff --git a/notebooks/analysis/moa/no_query.csv b/notebooks/analysis/moa/no_query.csv new file mode 100644 index 00000000..080a1669 --- /dev/null +++ b/notebooks/analysis/moa/no_query.csv @@ -0,0 +1,2 @@ +variant_id feature +874 {'attributes': [{'feature_type': 'somatic_variant'}], 'feature_id': 874, 'feature_type': 'somatic_variant'} diff --git a/notebooks/analysis/moa/not_supported_variants.csv b/notebooks/analysis/moa/not_supported_variants.csv new file mode 100644 index 00000000..aaf471ba --- /dev/null +++ b/notebooks/analysis/moa/not_supported_variants.csv @@ -0,0 +1,245 @@ +variant_id query moa_feature_type category +1 BCR--ABL1 Fusion rearrangement Rearrangements +12 ALK Fusion rearrangement Rearrangements +15 ALK rearrangement Rearrangements +18 ALK Translocation rearrangement Rearrangements +21 BRD4 t(15;19) Translocation rearrangement Rearrangements +22 CCND1 t(11;14) Translocation rearrangement Rearrangements +24 CCND3 t(6;14) Translocation rearrangement Rearrangements +25 COL1A1--PDGFB Fusion rearrangement Rearrangements +26 EML4--ALK Fusion rearrangement Rearrangements +28 ESRP1--RAF1 Fusion rearrangement Rearrangements +30 EWSR1--FLI1 Fusion rearrangement Rearrangements +31 FGFR2--TACC3 Fusion rearrangement Rearrangements +32 FGFR2 Fusion rearrangement Rearrangements +34 FGFR2 rearrangement Protein Consequence +36 FGFR3 Fusion rearrangement Rearrangements +37 FGFR3--NSD2 Fusion rearrangement Rearrangements +38 IGH t(11;14)(q13;q32) Translocation rearrangement Rearrangements +39 IGH t(4;14)(q16;q32) Translocation rearrangement Rearrangements +40 NTRK1 Translocation rearrangement Rearrangements +42 NTRK2 Fusion rearrangement Rearrangements +43 NTRK2 Translocation rearrangement Rearrangements +46 NTRK3 Translocation rearrangement Rearrangements +48 NTRK3 Fusion rearrangement Rearrangements +49 PDGFRA rearrangement Rearrangements +50 FIP1L1--PDGFRA Fusion rearrangement Rearrangements +51 BCR--PDGFRA Fusion rearrangement Rearrangements +52 PDGFRB rearrangement Rearrangements +53 PDGFRB 5q31-33 Translocation rearrangement Rearrangements +54 PDGFRB 4p12 Translocation rearrangement Rearrangements +55 RET rearrangement Rearrangements +57 RET Fusion rearrangement Rearrangements +62 ROS1 Fusion rearrangement Rearrangements +64 RUNX1--RUNX1T1 Fusion rearrangement Rearrangements +65 SLC45A3--BRAF Fusion rearrangement Rearrangements +67 TMPRSS2--ERG Fusion rearrangement Rearrangements +72 ABL1 somatic_variant Protein Consequence +79 ABL1 somatic_variant Protein Consequence +111 AKT1 somatic_variant Protein Consequence +113 AKT2 somatic_variant Protein Consequence +114 AKT3 somatic_variant Protein Consequence +123 ARID1A somatic_variant Protein Consequence +124 ARID1A somatic_variant Protein Consequence +125 ARID1A somatic_variant Protein Consequence +126 ASXL1 somatic_variant Protein Consequence +127 ASXL1 somatic_variant Protein Consequence +128 ATM somatic_variant Protein Consequence +129 ATM somatic_variant Protein Consequence +130 ATM somatic_variant Protein Consequence +135 ATM somatic_variant Protein Consequence +136 BARD1 somatic_variant Protein Consequence +143 BCOR somatic_variant Protein Consequence +144 BCOR somatic_variant Protein Consequence +145 BCOR somatic_variant Protein Consequence +147 BCR somatic_variant Protein Consequence +148 BLM somatic_variant Protein Consequence +172 BRAF somatic_variant Protein Consequence +193 BRCA1 somatic_variant Protein Consequence +196 BRCA1 somatic_variant Protein Consequence +209 BRCA2 somatic_variant Protein Consequence +215 BRCA2 somatic_variant Protein Consequence +222 BRCA2 somatic_variant Protein Consequence +227 BRIP1 somatic_variant Protein Consequence +234 CDK12 somatic_variant Protein Consequence +235 CHEK1 somatic_variant Protein Consequence +242 CHEK2 somatic_variant Protein Consequence +249 CTNNB1 somatic_variant Protein Consequence +251 DNMT3A somatic_variant Protein Consequence +252 DNMT3A somatic_variant Protein Consequence +253 DNMT3A somatic_variant Protein Consequence +255 EGFR somatic_variant Protein Consequence +260 EGFR somatic_variant Protein Consequence +280 EGFR somatic_variant Protein Consequence +283 EGFR somatic_variant Protein Consequence +285 EGFR somatic_variant Protein Consequence +289 ERBB2 somatic_variant Protein Consequence +290 ERBB2 somatic_variant Protein Consequence +291 ERBB3 somatic_variant Protein Consequence +292 ERCC2 somatic_variant Protein Consequence +295 ESR1 somatic_variant Protein Consequence +296 ETV6 somatic_variant Protein Consequence +297 ETV6 somatic_variant Protein Consequence +298 EZH2 somatic_variant Protein Consequence +299 EZH2 somatic_variant Protein Consequence +305 FANCL somatic_variant Protein Consequence +306 FBXW7 somatic_variant Protein Consequence +311 FLCN somatic_variant Protein Consequence +314 FLCN somatic_variant Protein Consequence +320 IDH1 somatic_variant Protein Consequence +332 IDH2 somatic_variant Protein Consequence +337 JAK1 somatic_variant Protein Consequence +340 JAK2 somatic_variant Protein Consequence +348 KIT somatic_variant Protein Consequence +349 KIT somatic_variant Protein Consequence +359 KIT somatic_variant Protein Consequence +360 KIT somatic_variant Protein Consequence +368 KIT somatic_variant Protein Consequence +372 KIT somatic_variant Protein Consequence +378 KRAS somatic_variant Protein Consequence +380 KRAS somatic_variant Protein Consequence +382 KRAS somatic_variant Protein Consequence +384 KRAS somatic_variant Protein Consequence +391 KRAS p.G12 somatic_variant Protein Consequence +392 KRAS p.G13 somatic_variant Protein Consequence +393 KRAS p.Q61 somatic_variant Protein Consequence +412 MC1R somatic_variant Protein Consequence +414 MET somatic_variant Protein Consequence +415 MET somatic_variant Protein Consequence +416 MET somatic_variant Protein Consequence +420 MLH3 somatic_variant Protein Consequence +422 MSH2 somatic_variant Protein Consequence +423 MSH6 somatic_variant Protein Consequence +424 MTOR somatic_variant Protein Consequence +425 MYH somatic_variant Protein Consequence +426 NFE2L2 somatic_variant Protein Consequence +427 NRAS somatic_variant Protein Consequence +429 NRAS somatic_variant Protein Consequence +449 PALB2 somatic_variant Protein Consequence +457 PBRM1 somatic_variant Protein Consequence +458 PDGFRA somatic_variant Protein Consequence +461 PDGFRA somatic_variant Protein Consequence +463 PBRM1 somatic_variant Protein Consequence +464 PIK3CA somatic_variant Protein Consequence +465 PIK3CA somatic_variant Protein Consequence +487 PIK3CB somatic_variant Protein Consequence +492 POLD1 somatic_variant Protein Consequence +496 POLE somatic_variant Protein Consequence +499 PRPF8 somatic_variant Protein Consequence +500 PTEN somatic_variant Protein Consequence +501 PTEN somatic_variant Protein Consequence +502 PTEN somatic_variant Protein Consequence +506 PTEN somatic_variant Protein Consequence +511 PTPN11 somatic_variant Protein Consequence +512 RAD51B somatic_variant Protein Consequence +513 RAD51C somatic_variant Protein Consequence +520 RAD51D somatic_variant Protein Consequence +527 RAD54L somatic_variant Protein Consequence +528 RBM10 somatic_variant Protein Consequence +531 RET somatic_variant Protein Consequence +533 RUNX1 somatic_variant Protein Consequence +534 RUNX1 somatic_variant Protein Consequence +537 SETBP1 somatic_variant Protein Consequence +542 SETBP1 somatic_variant Protein Consequence +557 SF3B1 somatic_variant Protein Consequence +562 SMARCA4 somatic_variant Protein Consequence +563 SMARCA4 somatic_variant Protein Consequence +564 SMARCA4 somatic_variant Protein Consequence +565 SPOP somatic_variant Protein Consequence +568 STAG2 somatic_variant Protein Consequence +569 STAG2 somatic_variant Protein Consequence +570 STAG2 somatic_variant Protein Consequence +571 TET2 somatic_variant Protein Consequence +572 TP53 somatic_variant Protein Consequence +573 TP53 somatic_variant Protein Consequence +574 TP53 somatic_variant Protein Consequence +575 TP53 somatic_variant Protein Consequence +576 TP53 somatic_variant Protein Consequence +580 TSC1 somatic_variant Protein Consequence +581 TSC1 somatic_variant Protein Consequence +582 TSC1 somatic_variant Protein Consequence +585 TSC1 somatic_variant Protein Consequence +586 TSC2 somatic_variant Protein Consequence +587 TSC2 somatic_variant Protein Consequence +588 TSC2 somatic_variant Protein Consequence +589 TSC2 somatic_variant Protein Consequence +592 ZRSR2 somatic_variant Protein Consequence +593 ZRSR2 somatic_variant Protein Consequence +594 ATM germline_variant Protein Consequence +595 ATM germline_variant Protein Consequence +596 ATM germline_variant Protein Consequence +597 BARD1 germline_variant Protein Consequence +603 BRCA1 germline_variant Protein Consequence +612 BRCA1 germline_variant Protein Consequence +622 BRCA2 germline_variant Protein Consequence +634 BRCA2 germline_variant Protein Consequence +640 CHEK1 germline_variant Protein Consequence +646 CHEK2 germline_variant Protein Consequence +652 CHEK2 germline_variant Protein Consequence +653 EPCAM germline_variant Protein Consequence +656 LIMK2 p.G574Rfs*12 germline_variant Protein Consequence +657 LIMK2 p.C582Lfs*4 germline_variant Protein Consequence +658 LIMK2 p.G684Tfs*16 germline_variant Protein Consequence +659 MLH1 germline_variant Protein Consequence +660 MLH3 germline_variant Protein Consequence +662 MRE11 p.H356Tfs*34 germline_variant Protein Consequence +663 MRE11 p.L7fs*18 germline_variant Protein Consequence +664 MSH2 germline_variant Protein Consequence +666 MSH6 germline_variant Protein Consequence +668 NF1 germline_variant Protein Consequence +669 PALB2 germline_variant Protein Consequence +676 PALB2 germline_variant Protein Consequence +677 PMS2 germline_variant Protein Consequence +678 POLE2 p.L469Ffs*17 germline_variant Protein Consequence +679 POT1 p.D617Efs*9 germline_variant Protein Consequence +681 POT1 p.N75Kfs*16 germline_variant Protein Consequence +682 RAD51C germline_variant Protein Consequence +688 RAD51D germline_variant Protein Consequence +694 RB1 germline_variant Protein Consequence +695 TP53 germline_variant Protein Consequence +700 ARID1A Deletion copy_number Copy Number +706 BRCA2 Deletion copy_number Copy Number +720 CDKN2A Deletion copy_number Copy Number +722 CDKN2C Deletion copy_number Copy Number +723 CDKN2C Deletion copy_number Copy Number +745 FBXW7 Deletion copy_number Copy Number +755 KEAP1 Deletion copy_number Copy Number +763 MIR17HG Deletion copy_number Copy Number +769 PBRM1 Deletion copy_number Copy Number +771 PTEN Deletion copy_number Copy Number +778 RB1 Deletion copy_number Copy Number +779 TP53 Deletion copy_number Copy Number +781 MSI-High microsatellite_stability Rearrangements +786 COSMIC Signature (version 2) 10 mutational_signature Protein Consequence +789 COSMIC Signature (version 2) 2 mutational_signature Protein Consequence +791 COSMIC Signature (version 2) 3 mutational_signature Protein Consequence +797 COSMIC Signature (version 2) 4 mutational_signature Protein Consequence +799 COSMIC Signature (version 2) 5 mutational_signature Protein Consequence +803 High mutational_burden Other +805 High (>= 178 mutations) mutational_burden Other +806 High (>= 100 mutations) mutational_burden Other +808 High (>= 10 mutations/Mb) mutational_burden Other +809 ATM (shRNA) knockdown Expression +810 B2M (CRISPR-Cas9) knockdown Expression +811 CDK12 (shRNA) knockdown Expression +812 CDK12 (siRNA) knockdown Expression +813 CPT1A (shRNA) knockdown Expression +814 RAD17 (shRNA) knockdown Expression +816 RAD50 (shRNA) knockdown Expression +817 TAP2 (CRISPR-Cas9) knockdown Expression +818 PPARGC1A (CRSPR-Cas9) knockdown Expression +819 Whole genome doubling aneuploidy Copy Number +833 RB1 (shRNA) knockdown Expression +834 USP11 (siRNA) knockdown Expression +835 ALK--EML4 Fusion rearrangement Rearrangements +836 BRCA1 somatic_variant Protein Consequence +837 BRCA1 somatic_variant Protein Consequence +841 BRCA2 somatic_variant Protein Consequence +846 RB1 somatic_variant Protein Consequence +847 RB1 somatic_variant Protein Consequence +848 ATRX Deletion copy_number Copy Number +849 BRCA1 Deletion copy_number Copy Number +853 CDKN2C Deletion copy_number Copy Number +862 RB1 Deletion copy_number Copy Number +863 FGFR1 rearrangement Protein Consequence +873 ESR1 somatic_variant Protein Consequence diff --git a/notebooks/analysis/moa/unable_to_normalize_queries.csv b/notebooks/analysis/moa/unable_to_normalize_queries.csv new file mode 100644 index 00000000..9cf14308 --- /dev/null +++ b/notebooks/analysis/moa/unable_to_normalize_queries.csv @@ -0,0 +1 @@ +variant_id query moa_feature_type exception_raised message warnings From b42770504b47c9083bf3dbf53cac1817381f0fc5 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Thu, 23 Feb 2023 15:03:06 -0500 Subject: [PATCH 13/29] wip: incl new stat --- notebooks/analysis/civic/civic_analysis.ipynb | 35 ++++- notebooks/analysis/moa/moa_analysis.ipynb | 125 +++++++++++------- 2 files changed, 108 insertions(+), 52 deletions(-) diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 61680211..a784d100 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -1007,7 +1007,27 @@ }, { "cell_type": "code", - "execution_count": 33, + "execution_count": 35, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer successfully normalized 95.73% of the variants we SHOULD be able to normalize'" + ] + }, + "execution_count": 35, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer successfully normalized {can_normalize_total_sum / should_be_able_to_normalize_total_sum * 100:.2f}% of the variants we SHOULD be able to normalize\"" + ] + }, + { + "cell_type": "code", + "execution_count": 36, "metadata": {}, "outputs": [ { @@ -1016,7 +1036,7 @@ "'The Variation Normalizer successfully normalized 52.37% of the total variants'" ] }, - "execution_count": 33, + "execution_count": 36, "metadata": {}, "output_type": "execute_result" } @@ -1037,7 +1057,7 @@ }, { "cell_type": "code", - "execution_count": 34, + "execution_count": 37, "metadata": {}, "outputs": [ { @@ -1047,7 +1067,7 @@ " 'NC_000003.11:g.10183725C>G': [1751, 1787]}" ] }, - "execution_count": 34, + "execution_count": 37, "metadata": {}, "output_type": "execute_result" } @@ -1055,6 +1075,13 @@ "source": [ "{k:v for k,v in queries_found.items() if len(v) > 1}" ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [] } ], "metadata": { diff --git a/notebooks/analysis/moa/moa_analysis.ipynb b/notebooks/analysis/moa/moa_analysis.ipynb index 88a60e4d..c7591525 100644 --- a/notebooks/analysis/moa/moa_analysis.ipynb +++ b/notebooks/analysis/moa/moa_analysis.ipynb @@ -2,9 +2,18 @@ "cells": [ { "cell_type": "code", - "execution_count": 61, + "execution_count": 1, "metadata": {}, - "outputs": [], + "outputs": [ + { + "name": "stderr", + "output_type": "stream", + "text": [ + "/Users/kxk102/.local/share/virtualenvs/variation-normalization-KPVKcmjd/lib/python3.10/site-packages/python_jsonschema_objects/__init__.py:49: UserWarning: Schema version http://json-schema.org/draft-07/schema not recognized. Some keywords and features may not be supported.\n", + " warnings.warn(\n" + ] + } + ], "source": [ "import logging\n", "from enum import Enum\n", @@ -19,7 +28,7 @@ }, { "cell_type": "code", - "execution_count": 62, + "execution_count": 2, "metadata": {}, "outputs": [ { @@ -28,7 +37,7 @@ "True" ] }, - "execution_count": 62, + "execution_count": 2, "metadata": {}, "output_type": "execute_result" } @@ -41,7 +50,7 @@ }, { "cell_type": "code", - "execution_count": 63, + "execution_count": 3, "metadata": {}, "outputs": [], "source": [ @@ -50,7 +59,7 @@ }, { "cell_type": "code", - "execution_count": 64, + "execution_count": 4, "metadata": {}, "outputs": [], "source": [ @@ -61,7 +70,7 @@ }, { "cell_type": "code", - "execution_count": 65, + "execution_count": 5, "metadata": {}, "outputs": [], "source": [ @@ -84,7 +93,7 @@ }, { "cell_type": "code", - "execution_count": 66, + "execution_count": 6, "metadata": {}, "outputs": [], "source": [ @@ -105,7 +114,7 @@ }, { "cell_type": "code", - "execution_count": 67, + "execution_count": 7, "metadata": {}, "outputs": [], "source": [ @@ -254,7 +263,7 @@ }, { "cell_type": "code", - "execution_count": 68, + "execution_count": 8, "metadata": {}, "outputs": [ { @@ -263,7 +272,7 @@ "'Total number of variants in MOAlmanac: 424'" ] }, - "execution_count": 68, + "execution_count": 8, "metadata": {}, "output_type": "execute_result" } @@ -282,7 +291,7 @@ }, { "cell_type": "code", - "execution_count": 69, + "execution_count": 9, "metadata": {}, "outputs": [ { @@ -291,7 +300,7 @@ "1" ] }, - "execution_count": 69, + "execution_count": 9, "metadata": {}, "output_type": "execute_result" } @@ -302,7 +311,7 @@ }, { "cell_type": "code", - "execution_count": 70, + "execution_count": 10, "metadata": {}, "outputs": [ { @@ -311,7 +320,7 @@ "'0.24% of the total features had no queries'" ] }, - "execution_count": 70, + "execution_count": 10, "metadata": {}, "output_type": "execute_result" } @@ -330,7 +339,7 @@ }, { "cell_type": "code", - "execution_count": 71, + "execution_count": 11, "metadata": {}, "outputs": [ { @@ -339,7 +348,7 @@ "'Total number of variants we do not support in the Variation Normalizer: 244'" ] }, - "execution_count": 71, + "execution_count": 11, "metadata": {}, "output_type": "execute_result" } @@ -351,7 +360,7 @@ }, { "cell_type": "code", - "execution_count": 72, + "execution_count": 12, "metadata": {}, "outputs": [ { @@ -360,7 +369,7 @@ "'The Variation Normalizer does not support 57.55% of the total variants'" ] }, - "execution_count": 72, + "execution_count": 12, "metadata": {}, "output_type": "execute_result" } @@ -379,7 +388,7 @@ }, { "cell_type": "code", - "execution_count": 73, + "execution_count": 13, "metadata": {}, "outputs": [ { @@ -399,7 +408,7 @@ " 'INCOMPLETE_VAR': 0}" ] }, - "execution_count": 73, + "execution_count": 13, "metadata": {}, "output_type": "execute_result" } @@ -419,7 +428,7 @@ }, { "cell_type": "code", - "execution_count": 74, + "execution_count": 14, "metadata": {}, "outputs": [ { @@ -439,7 +448,7 @@ " 'INCOMPLETE_VAR': '0.00%'}" ] }, - "execution_count": 74, + "execution_count": 14, "metadata": {}, "output_type": "execute_result" } @@ -450,7 +459,7 @@ }, { "cell_type": "code", - "execution_count": 75, + "execution_count": 15, "metadata": {}, "outputs": [ { @@ -459,7 +468,7 @@ "'The Variation Normalizer does not support 57.55% of the total variants'" ] }, - "execution_count": 75, + "execution_count": 15, "metadata": {}, "output_type": "execute_result" } @@ -478,7 +487,7 @@ }, { "cell_type": "code", - "execution_count": 76, + "execution_count": 16, "metadata": {}, "outputs": [ { @@ -487,7 +496,7 @@ "179" ] }, - "execution_count": 76, + "execution_count": 16, "metadata": {}, "output_type": "execute_result" } @@ -498,7 +507,7 @@ }, { "cell_type": "code", - "execution_count": 77, + "execution_count": 17, "metadata": {}, "outputs": [ { @@ -507,7 +516,7 @@ "'The Variation Normalizer SHOULD be able to normalize 42.22% of the total variants'" ] }, - "execution_count": 77, + "execution_count": 17, "metadata": {}, "output_type": "execute_result" } @@ -528,7 +537,7 @@ }, { "cell_type": "code", - "execution_count": 78, + "execution_count": 18, "metadata": {}, "outputs": [ { @@ -537,7 +546,7 @@ "0" ] }, - "execution_count": 78, + "execution_count": 18, "metadata": {}, "output_type": "execute_result" } @@ -548,7 +557,7 @@ }, { "cell_type": "code", - "execution_count": 79, + "execution_count": 19, "metadata": {}, "outputs": [ { @@ -557,7 +566,7 @@ "'The Variation Normalizer was unable to normalize 0.0% of the total variants'" ] }, - "execution_count": 79, + "execution_count": 19, "metadata": {}, "output_type": "execute_result" } @@ -578,7 +587,7 @@ }, { "cell_type": "code", - "execution_count": 80, + "execution_count": 20, "metadata": {}, "outputs": [], "source": [ @@ -609,7 +618,7 @@ }, { "cell_type": "code", - "execution_count": 81, + "execution_count": 21, "metadata": {}, "outputs": [ { @@ -618,7 +627,7 @@ "'The Variation Normalizer found 0 invalid variants (This is 0.00% of the total variants).'" ] }, - "execution_count": 81, + "execution_count": 21, "metadata": {}, "output_type": "execute_result" } @@ -639,7 +648,7 @@ }, { "cell_type": "code", - "execution_count": 82, + "execution_count": 22, "metadata": {}, "outputs": [ { @@ -648,7 +657,7 @@ "'The Variation Normalizer was unable to tokenize 0 variants (0.00% of the total variants).'" ] }, - "execution_count": 82, + "execution_count": 22, "metadata": {}, "output_type": "execute_result" } @@ -659,7 +668,7 @@ }, { "cell_type": "code", - "execution_count": 83, + "execution_count": 23, "metadata": {}, "outputs": [ { @@ -668,7 +677,7 @@ "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.00% of the total variants).'" ] }, - "execution_count": 83, + "execution_count": 23, "metadata": {}, "output_type": "execute_result" } @@ -687,7 +696,7 @@ }, { "cell_type": "code", - "execution_count": 84, + "execution_count": 24, "metadata": {}, "outputs": [ { @@ -696,7 +705,7 @@ "'The Variation Normalizer raised an exception for 0.00% of the total variants'" ] }, - "execution_count": 84, + "execution_count": 24, "metadata": {}, "output_type": "execute_result" } @@ -715,7 +724,7 @@ }, { "cell_type": "code", - "execution_count": 85, + "execution_count": 25, "metadata": {}, "outputs": [ { @@ -724,7 +733,7 @@ "179" ] }, - "execution_count": 85, + "execution_count": 25, "metadata": {}, "output_type": "execute_result" } @@ -735,7 +744,27 @@ }, { "cell_type": "code", - "execution_count": 86, + "execution_count": 26, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer successfully normalized 100.00% of the variants we SHOULD be able to normalize'" + ] + }, + "execution_count": 26, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "f\"The Variation Normalizer successfully normalized {can_normalize_total / should_be_able_to_normalize_total * 100:.2f}% of the variants we SHOULD be able to normalize\"" + ] + }, + { + "cell_type": "code", + "execution_count": 27, "metadata": {}, "outputs": [ { @@ -744,7 +773,7 @@ "'The Variation Normalizer successfully normalized 42.22% of the total variants'" ] }, - "execution_count": 86, + "execution_count": 27, "metadata": {}, "output_type": "execute_result" } @@ -765,7 +794,7 @@ }, { "cell_type": "code", - "execution_count": 87, + "execution_count": 28, "metadata": {}, "outputs": [ { @@ -778,7 +807,7 @@ " 'MYC Amplification': [765, 766]}" ] }, - "execution_count": 87, + "execution_count": 28, "metadata": {}, "output_type": "execute_result" } From 0bb5a7ee124b9d2609b0d7336be6228950388272 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Fri, 24 Feb 2023 10:38:05 -0500 Subject: [PATCH 14/29] wip: update final not supported keywords --- .../civic/all_protein_variant_queries.csv | 6 -- notebooks/analysis/civic/civic_analysis.ipynb | 64 ++++++++++--------- .../analysis/civic/not_supported_variants.csv | 6 ++ .../civic/unable_to_normalize_queries.csv | 6 -- 4 files changed, 40 insertions(+), 42 deletions(-) diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv index cbeca201..3d240a17 100644 --- a/notebooks/analysis/civic/all_protein_variant_queries.csv +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -289,13 +289,11 @@ variant_id gene_name variant_name 3541 PTEN D92H 3542 PTEN D92V 3293 PIK3CA D939G -3023 PML DELETION (p.K227_T233del) 2414 MAP2K1 E102_I103delEI 3290 PIK3CB E1051K 3464 EGFR E114K 566 MAP2K7 E116K 4329 ALK E1210K -2994 MAEA E151INT 2050 DICER1 E1705K 544 MTOR E1799K 4 AKT1 E17K @@ -665,7 +663,6 @@ variant_id gene_name variant_name 949 KIT K550_K558del 2696 KIT K550_K559DEL 948 KIT K550_W557del -1549 KIT K558NP 963 KIT K558Q 965 KIT K558R 964 KIT K558_V559del @@ -863,7 +860,6 @@ variant_id gene_name variant_name 1186 BRAF N581S 3053 FLT3 N676K 3719 AR N756D -1581 EGFR N771>GY 3304 EGFR N771_P772insL 1662 EGFR N771delinsVH 987 KIT N822H @@ -949,7 +945,6 @@ variant_id gene_name variant_name 3534 PTEN P96Q 3761 TP53 P98L 3760 TP53 P98S -2916 PRPS1 PRPS1 MUTATION 3302 TYK2 Pro1104Ala 1159 ATM Q1084* 469 TSC2 Q1178* @@ -1449,7 +1444,6 @@ variant_id gene_name variant_name 1630 FLT3 Y591_V592INSVDFREYE 3607 EZH2 Y646C 2989 EZH2 Y646F -3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V 3364 EZH2 Y646H 4090 EZH2 Y646N 2666 EZH2 Y646S diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index a784d100..85b19e9a 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -173,7 +173,8 @@ " },\n", " VariantCategory.PROTEIN_CONS: {\n", " \"frameshift truncation\", \"frameshift\", \"frame shift\", \"fs\",\n", - " \"truncating mutation\", \"1100delc\"\n", + " \"truncating mutation\", \"1100delc\", \"deletion (p.k227_t233del)\",\n", + " \"y646f, y646n, y646s, y646h, y646c, a682g, a692v\"\n", " },\n", " VariantCategory.GENE_FUNC: {\n", " \"gain of function\", \"gain-of-function\", \"loss of function\", \"loss-of-function\",\n", @@ -182,7 +183,7 @@ " VariantCategory.REARRANGEMENTS: {\n", " \"translocation\", \"rearrangement\", \"double ph\", \"alu insertion\", \n", " \"exon 20 insertion\", \"internal tandem duplications\", \"tandem repeat\",\n", - " \"itd\", \"d842_h845deldimh\"\n", + " \"itd\", \"d842_h845deldimh\", \"k558np\"\n", " },\n", " VariantCategory.COPY_NUMBER: {\n", " \"copy number\", \"repeat\", \"dup\", \"non-amplification\", \"gain\"\n", @@ -192,7 +193,7 @@ " \"splice\", \"splicing\", \"ceacam1-l\", \"ceacam1-s\", \"δ\", # this is really Δ for upper case\n", " \"delta\", \"beta\", \"ivs2+1g>a\", \"ivs20, a-g, -2\",\n", " \"deprecated\", \"point mutations\", \"conserved domain mut\", \"cis double mutants\",\n", - " \"loss-of-modification\", \"gbrcam\", \"kras4a\", \"kras4b\",\n", + " \"loss-of-modification\", \"gbrcam\", \"kras4a\", \"kras4b\", \"e151int\"\n", " },\n", " VariantCategory.GENOTYPES_EASY: {\n", " \"diplotypes\", \"wild type\", \"wildtype\", \"p61braf(v600e)\"\n", @@ -297,7 +298,10 @@ " categories = set()\n", " if v_name_lower in {\"loss\", \"deletion\"}:\n", " categories.add(VariantCategory.GENE_FUNC)\n", - " elif v_name_lower in {\"mutation\", \"mutations\", \"snp\"}:\n", + " elif any((\n", + " v_name_lower in {\"mutation\", \"mutations\", \"snp\"},\n", + " v_name_lower == f\"{variant.gene.name.lower()} mutation\"\n", + " )):\n", " categories.add(VariantCategory.REGION_DEFINED_VAR)\n", " else:\n", " if v_name_lower.endswith(\"deletion and mutation\"):\n", @@ -321,8 +325,8 @@ " \n", " if any((\n", " re.match(r\"t\\(.*\\)\\(.*\\)\", v_name_lower), # ex: t(1;3)(p36.3;p25)\n", - " re.match(r\"\\w+ins$\", v_name_lower), # ex: P780INS, L78_Q79ins\n", - " re.match(r\"\\w+_\\w+>\\w+\", v_name_lower), # ex: 56_61QKQKVG>R, E746_T751>I\n", + " re.match(r\".*ins$\", v_name_lower), # ex: P780INS, L78_Q79ins\n", + " re.match(r\"\\w+_?\\w+>\\w+\", v_name_lower), # ex: 56_61QKQKVG>R, E746_T751>I, N771>GY\n", " )): \n", " categories.add(VariantCategory.REARRANGEMENTS)\n", "\n", @@ -524,7 +528,7 @@ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 1192'" + "'Total number of variants we do not support in the Variation Normalizer: 1198'" ] }, "execution_count": 14, @@ -555,11 +559,11 @@ "text/plain": [ "{'FUSION': 307,\n", " 'EXPRESSION': 288,\n", - " 'REGION_DEFINED_VAR': 180,\n", - " 'PROTEIN_CONS': 128,\n", - " 'OTHER': 88,\n", + " 'REGION_DEFINED_VAR': 181,\n", + " 'PROTEIN_CONS': 130,\n", + " 'OTHER': 89,\n", " 'GENE_FUNC': 86,\n", - " 'REARRANGEMENTS': 48,\n", + " 'REARRANGEMENTS': 50,\n", " 'COPY_NUMBER': 31,\n", " 'EPIGENETIC_MODIFICATION': 15,\n", " 'GENOTYPES_EASY': 10,\n", @@ -595,11 +599,11 @@ "text/plain": [ "{'FUSION': '8.86%',\n", " 'EXPRESSION': '8.31%',\n", - " 'REGION_DEFINED_VAR': '5.19%',\n", - " 'PROTEIN_CONS': '3.69%',\n", - " 'OTHER': '2.54%',\n", + " 'REGION_DEFINED_VAR': '5.22%',\n", + " 'PROTEIN_CONS': '3.75%',\n", + " 'OTHER': '2.57%',\n", " 'GENE_FUNC': '2.48%',\n", - " 'REARRANGEMENTS': '1.38%',\n", + " 'REARRANGEMENTS': '1.44%',\n", " 'COPY_NUMBER': '0.89%',\n", " 'EPIGENETIC_MODIFICATION': '0.43%',\n", " 'GENOTYPES_EASY': '0.29%',\n", @@ -624,7 +628,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 34.39% of the total variants'" + "'The Variation Normalizer does not support 34.56% of the total variants'" ] }, "execution_count": 17, @@ -652,7 +656,7 @@ { "data": { "text/plain": [ - "{'protein': 1471, 'genomic': 425}" + "{'protein': 1465, 'genomic': 425}" ] }, "execution_count": 18, @@ -672,7 +676,7 @@ { "data": { "text/plain": [ - "1896" + "1890" ] }, "execution_count": 19, @@ -693,7 +697,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer SHOULD be able to normalize 54.70% of the total variants'" + "'The Variation Normalizer SHOULD be able to normalize 54.53% of the total variants'" ] }, "execution_count": 20, @@ -723,7 +727,7 @@ { "data": { "text/plain": [ - "{'protein': 72, 'genomic': 3}" + "{'protein': 66, 'genomic': 3}" ] }, "execution_count": 21, @@ -743,7 +747,7 @@ { "data": { "text/plain": [ - "75" + "69" ] }, "execution_count": 22, @@ -764,7 +768,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to normalize 2.163877668782458% of the total variants'" + "'The Variation Normalizer was unable to normalize 1.9907674552798615% of the total variants'" ] }, "execution_count": 23, @@ -855,7 +859,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to tokenize 15 variants (0.43% of the total variants).'" + "'The Variation Normalizer was unable to tokenize 9 variants (0.26% of the total variants).'" ] }, "execution_count": 26, @@ -1007,16 +1011,16 @@ }, { "cell_type": "code", - "execution_count": 35, + "execution_count": 33, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer successfully normalized 95.73% of the variants we SHOULD be able to normalize'" + "'The Variation Normalizer successfully normalized 96.03% of the variants we SHOULD be able to normalize'" ] }, - "execution_count": 35, + "execution_count": 33, "metadata": {}, "output_type": "execute_result" } @@ -1027,7 +1031,7 @@ }, { "cell_type": "code", - "execution_count": 36, + "execution_count": 34, "metadata": {}, "outputs": [ { @@ -1036,7 +1040,7 @@ "'The Variation Normalizer successfully normalized 52.37% of the total variants'" ] }, - "execution_count": 36, + "execution_count": 34, "metadata": {}, "output_type": "execute_result" } @@ -1057,7 +1061,7 @@ }, { "cell_type": "code", - "execution_count": 37, + "execution_count": 35, "metadata": {}, "outputs": [ { @@ -1067,7 +1071,7 @@ " 'NC_000003.11:g.10183725C>G': [1751, 1787]}" ] }, - "execution_count": 37, + "execution_count": 35, "metadata": {}, "output_type": "execute_result" } diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index 0536b7ef..f3ad32f9 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -173,6 +173,7 @@ variant_id gene_name variant_name category 522 BRAF DEL 485-490 Region Defined Variant 954 KIT DEL 554-558 Region Defined Variant 647 LRP1B DELETION Gene Function +3023 PML DELETION (p.K227_T233del) Protein Consequence 1663 BRAF DELNVTAP Incomplete Variants 2685 DGKH DGKH::ZFAND3 Fusion 242 TP53 DNA Binding Domain Mutation Region Defined Variant @@ -200,6 +201,7 @@ variant_id gene_name variant_name category 526 BCL2L11 Deletion Polymorphism Region Defined Variant 3009 ABL1 Double Ph Rearrangements 725 MLH1 E13fs Protein Consequence +2994 MAEA E151INT Other 2591 DICER1 E1813 mutations Protein Consequence 572 MTOR E2014K and E2419K Protein Consequence 2730 TP53 E204 Protein Consequence @@ -514,6 +516,7 @@ variant_id gene_name variant_name category 3273 MSH3 K383fs Protein Consequence 4177 PDGFRA K385 Protein Consequence 1166 ATM K468FS Protein Consequence +1549 KIT K558NP Rearrangements 2765 BRAF K601 Protein Consequence 508 PMS2 K706FS*19 Protein Consequence 2964 RUNX1 K90fsX101 Protein Consequence @@ -719,6 +722,7 @@ variant_id gene_name variant_name category 4018 MS4A1 Mutation Region Defined Variant 3127 WT1 Mutations Region Defined Variant 28 CEBPA N-TERMINAL FRAME SHIFT Protein Consequence +1581 EGFR N771>GY Rearrangements 1320 ERBB2 NON-AMPLIFICATION Copy Number 513 ALK NPM::ALK Fusion 2883 BRAF NRF1::BRAF Fusion @@ -918,6 +922,7 @@ variant_id gene_name variant_name category 22 CCND2 PROMOTER DEMETHYLATION Epigenetic Modification 2254 DBI PROMOTER DEMETHYLATION Epigenetic Modification 711 KLLN PROMOTER METHYLATION Epigenetic Modification +2916 PRPS1 PRPS1 MUTATION Region Defined Variant 2683 PTK2B PTK2B::KDM6A Fusion 2684 PTK2B PTK2B::STAG2 Fusion 2184 VHL Partial deletion of 0.7 Kb Region Defined Variant @@ -1142,6 +1147,7 @@ variant_id gene_name variant_name category 2720 TP53 Y205 Protein Consequence 3327 FLT3 Y572Δ Other 165 EZH2 Y646 Protein Consequence +3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V Protein Consequence 3055 FLT3 Y693 Protein Consequence 1672 EGFR Y69FS*11 Protein Consequence 414 ERBB2 Y772_A775DUP Copy Number diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index 1079585f..5b49def3 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -9,9 +9,7 @@ variant_id query query_type exception_raised message warnings 3713 AR D528G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2833 NECTIN4 D594H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2514 3-10183806-A-CC genomic False unable to normalize ['Unable to find valid result for classifications: set()'] -3023 PML DELETION (p.K227_T233del) protein False unable to normalize ['Unable to tokenize DELETION', 'Unable to tokenize (p.K227_T233del)'] 2414 MAP2K1 E102_I103delEI protein False unable to normalize ['Unable to tokenize E102_I103delEI'] -2994 MAEA E151INT protein False unable to normalize ['Unable to tokenize E151INT'] 3707 AR E198G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3450 BRAF F594L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -29,7 +27,6 @@ variant_id query query_type exception_raised message warnings 3594 H3-3A K27R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2420 H3-3B K36M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2696 KIT K550_K559DEL protein False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" -1549 KIT K558NP protein False unable to normalize ['Unable to tokenize K558NP'] 3455 BRAF K600E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3714 AR K720E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1638 EGFR K745_E749delKELRE protein False unable to normalize ['Unable to tokenize K745_E749delKELRE'] @@ -41,11 +38,9 @@ variant_id query query_type exception_raised message warnings 1007 EGFR L747_T751delLREAT protein False unable to normalize ['Unable to tokenize L747_T751delLREAT'] 3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3719 AR N756D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1581 EGFR N771>GY protein False unable to normalize ['Unable to tokenize N771>GY'] 3711 AR P340L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3712 AR P504L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1497 KIT P551_E554delPMYE protein False unable to normalize ['Unable to tokenize P551_E554delPMYE'] -2916 PRPS1 PRPS1 MUTATION protein False unable to normalize ['Unable to tokenize MUTATION'] 1643 SCN8A Q225X protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2700 CBL Q294E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3726 AR Q798E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -72,5 +67,4 @@ variant_id query query_type exception_raised message warnings 3722 AR V757I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1539 PDGFRA W559_R560DELWR protein False unable to normalize ['Unable to tokenize W559_R560DELWR'] 1542 KIT Y553_W557DELYEVQW protein False unable to normalize ['Unable to tokenize Y553_W557DELYEVQW'] -3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V protein False unable to normalize ['Unable to tokenize Y646F,', 'Unable to tokenize Y646N,', 'Unable to tokenize Y646S,', 'Unable to tokenize Y646H,', 'Unable to tokenize Y646C,', 'Unable to tokenize A682G,'] 3724 AR Y763C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" From d67905002c0776715072ed487f073f6894f959ef Mon Sep 17 00:00:00 2001 From: korikuzma Date: Thu, 2 Mar 2023 12:16:53 -0500 Subject: [PATCH 15/29] wip: update civic analysis - no_query --> transcript vars - incomplete category --> other --- notebooks/analysis/civic/civic_analysis.ipynb | 173 +++++++++--------- .../analysis/civic/not_supported_variants.csv | 10 +- ...no_queries.csv => transcript_variants.csv} | 0 3 files changed, 94 insertions(+), 89 deletions(-) rename notebooks/analysis/civic/{no_queries.csv => transcript_variants.csv} (100%) diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 85b19e9a..ff8769e3 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -140,7 +140,8 @@ " GENOTYPES_EASY = \"Genotypes Easy\"\n", " GENOTYPES_COMPOUND = \"Genotypes Compound\"\n", " REGION_DEFINED_VAR = \"Region Defined Variant\"\n", - " INCOMPLETE_VAR = \"Incomplete Variants\"\n", + " TRANSCRIPT_VAR = \"Transcript Variant\" # no attempt to normalize these ones, since there is no query we could use\n", + "\n", " " ] }, @@ -193,7 +194,7 @@ " \"splice\", \"splicing\", \"ceacam1-l\", \"ceacam1-s\", \"δ\", # this is really Δ for upper case\n", " \"delta\", \"beta\", \"ivs2+1g>a\", \"ivs20, a-g, -2\",\n", " \"deprecated\", \"point mutations\", \"conserved domain mut\", \"cis double mutants\",\n", - " \"loss-of-modification\", \"gbrcam\", \"kras4a\", \"kras4b\", \"e151int\"\n", + " \"loss-of-modification\", \"gbrcam\", \"kras4a\", \"kras4b\", \"e151int\", \"delnvtap\"\n", " },\n", " VariantCategory.GENOTYPES_EASY: {\n", " \"diplotypes\", \"wild type\", \"wildtype\", \"p61braf(v600e)\"\n", @@ -206,9 +207,6 @@ " \"deleterious mutation\", \"domain mutation\", \"polymorphism\", \n", " \"non-p-loop mutation\", \"p-loop mutation\", \"3' utr mutation\", \"alteration\",\n", " \"t17 deletion\", \"exon\", \"ex19 del l858r\", \"promoter mutation\", \"non-v600\"\n", - " },\n", - " VariantCategory.INCOMPLETE_VAR: {\n", - " \"delnvtap\"\n", " }\n", "}" ] @@ -220,13 +218,15 @@ "outputs": [], "source": [ "\n", - "# This file contains CIViC Variants where there are no queries available.\n", + "# This file contains CIViC Variants where we did not attempt to normalize\n", + "# since we cannot find a free text or HGVS-like expression to use.\n", "# One example would be a CIViC Variant whose name has \"c.\" in it. In this case,\n", "# we want the genomic representative. We look at the HGVS expressions to find a genomic\n", - "# expression. If there is no genomic HGVS expression, we have no name for a query\n", - "no_query_wf = open(\"no_queries.csv\", \"w\")\n", - "no_query_wr = csv.writer(no_query_wf, delimiter=\"\\t\")\n", - "no_query_wr.writerow([\"variant_id\", \"variant_name\"])\n", + "# expression. If there is no genomic HGVS expression, we do not even attempt to\n", + "# normalize\n", + "transcript_vars_wf = open(\"transcript_variants.csv\", \"w\")\n", + "transcript_vars_wr = csv.writer(transcript_vars_wf, delimiter=\"\\t\")\n", + "transcript_vars_wr.writerow([\"variant_id\", \"variant_name\"])\n", "\n", "# This file contains protein queries (gene + variant_name) we SHOULD be able to\n", "# normalize\n", @@ -256,7 +256,7 @@ "variant_category_counts = {c: 0 for c in VariantCategory.__members__}\n", "\n", "# Keep track of total counts\n", - "no_query_total = {\"protein\": 0, \"genomic\": 0}\n", + "transcript_vars_total = {\"protein\": 0, \"genomic\": 0}\n", "should_be_able_to_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", "can_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", "unable_to_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", @@ -288,8 +288,9 @@ " v_q_type = \"protein\"\n", "\n", " if not v_name:\n", - " no_query_wr.writerow([variant.id, variant.name])\n", - " no_query_total[v_q_type] += 1\n", + " variant_category_counts[VariantCategory.TRANSCRIPT_VAR.name] += 1\n", + " transcript_vars_wr.writerow([variant.id, variant.name])\n", + " transcript_vars_total[v_q_type] += 1\n", " continue\n", " \n", " gene_name = variant.gene.name.strip()\n", @@ -382,7 +383,6 @@ "\n", " should_be_able_to_normalize_total[v_q_type] += 1\n", "\n", - " \n", " if q in queries_found:\n", " queries_found[q].append(variant.id)\n", " else:\n", @@ -400,7 +400,7 @@ " else:\n", " # Just a gene name\n", " genes = [v_name]\n", - " variant_category_name = VariantCategory.INCOMPLETE_VAR\n", + " variant_category_name = VariantCategory.OTHER\n", "\n", " is_genes = True\n", " for g in genes:\n", @@ -427,7 +427,7 @@ " exception_total[v_q_type] += 1\n", "\n", "# Close all files\n", - "no_query_wf.close()\n", + "transcript_vars_wf.close()\n", "protein_variants_wf.close()\n", "genomic_variants_wf.close()\n", "not_supported_wf.close()\n", @@ -439,27 +439,24 @@ "cell_type": "markdown", "metadata": {}, "source": [ - "## Variants that we could not find queries for" + "## Variants we do not support" ] }, { "cell_type": "code", "execution_count": 10, "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "{'protein': 0, 'genomic': 384}" - ] - }, - "execution_count": 10, - "metadata": {}, - "output_type": "execute_result" - } - ], + "outputs": [], "source": [ - "no_query_total" + "do_not_support_total_sum = sum(variant_category_counts.values())" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "Below are the total number of variants for each category that we do not support" ] }, { @@ -470,7 +467,18 @@ { "data": { "text/plain": [ - "384" + "{'TRANSCRIPT_VAR': 384,\n", + " 'FUSION': 307,\n", + " 'EXPRESSION': 288,\n", + " 'REGION_DEFINED_VAR': 181,\n", + " 'PROTEIN_CONS': 130,\n", + " 'OTHER': 94,\n", + " 'GENE_FUNC': 86,\n", + " 'REARRANGEMENTS': 50,\n", + " 'COPY_NUMBER': 31,\n", + " 'EPIGENETIC_MODIFICATION': 15,\n", + " 'GENOTYPES_EASY': 10,\n", + " 'GENOTYPES_COMPOUND': 6}" ] }, "execution_count": 11, @@ -479,8 +487,16 @@ } ], "source": [ - "no_query_total_sum = sum(no_query_total.values())\n", - "no_query_total_sum" + "sorted_variant_cat_counts = dict(sorted(variant_category_counts.items(), key=lambda x: x[1], reverse=True))\n", + "sorted_variant_cat_counts" + ] + }, + { + "attachments": {}, + "cell_type": "markdown", + "metadata": {}, + "source": [ + "Below is the total percentage of variants for each category that we do not support" ] }, { @@ -491,7 +507,18 @@ { "data": { "text/plain": [ - "'11.08% of the total variants had no queries'" + "{'TRANSCRIPT_VAR': '11.08%',\n", + " 'FUSION': '8.86%',\n", + " 'EXPRESSION': '8.31%',\n", + " 'REGION_DEFINED_VAR': '5.22%',\n", + " 'PROTEIN_CONS': '3.75%',\n", + " 'OTHER': '2.71%',\n", + " 'GENE_FUNC': '2.48%',\n", + " 'REARRANGEMENTS': '1.44%',\n", + " 'COPY_NUMBER': '0.89%',\n", + " 'EPIGENETIC_MODIFICATION': '0.43%',\n", + " 'GENOTYPES_EASY': '0.29%',\n", + " 'GENOTYPES_COMPOUND': '0.17%'}" ] }, "execution_count": 12, @@ -500,24 +527,27 @@ } ], "source": [ - "f\"{no_query_total_sum / total_variants * 100:.2f}% of the total variants had no queries\"" - ] - }, - { - "attachments": {}, - "cell_type": "markdown", - "metadata": {}, - "source": [ - "## Variants we do not support" + "{k: f\"{v / total_variants * 100:.2f}%\" for k, v in sorted_variant_cat_counts.items()}" ] }, { "cell_type": "code", "execution_count": 13, "metadata": {}, - "outputs": [], + "outputs": [ + { + "data": { + "text/plain": [ + "'The Variation Normalizer does not support 45.64% of the total variants'" + ] + }, + "execution_count": 13, + "metadata": {}, + "output_type": "execute_result" + } + ], "source": [ - "do_not_support_total_sum = sum(variant_category_counts.values())" + "f\"The Variation Normalizer does not support {do_not_support_total_sum / total_variants * 100:.2f}% of the total variants\"" ] }, { @@ -528,7 +558,7 @@ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 1198'" + "'Total number of variants we do not support in the Variation Normalizer: 1582'" ] }, "execution_count": 14, @@ -546,7 +576,12 @@ "cell_type": "markdown", "metadata": {}, "source": [ - "Below are the total number of variants for each category that we do not support" + "### Transcript Variants we did not attempt to normalize due to no input query available \n", + "These are CIViC Variants where we did not attempt to normalize since we cannot find a \n", + "free text or HGVS-like expression to use. One example would be a CIViC Variant whose \n", + "name has \"c.\" in it. In this case, we want the genomic representative. We look at the \n", + "HGVS expressions to find a genomic expression. If there is no genomic HGVS expression, \n", + "we do not even attempt to normalize. These are under the Transcript Variant category." ] }, { @@ -557,18 +592,7 @@ { "data": { "text/plain": [ - "{'FUSION': 307,\n", - " 'EXPRESSION': 288,\n", - " 'REGION_DEFINED_VAR': 181,\n", - " 'PROTEIN_CONS': 130,\n", - " 'OTHER': 89,\n", - " 'GENE_FUNC': 86,\n", - " 'REARRANGEMENTS': 50,\n", - " 'COPY_NUMBER': 31,\n", - " 'EPIGENETIC_MODIFICATION': 15,\n", - " 'GENOTYPES_EASY': 10,\n", - " 'GENOTYPES_COMPOUND': 6,\n", - " 'INCOMPLETE_VAR': 5}" + "{'protein': 0, 'genomic': 384}" ] }, "execution_count": 15, @@ -577,16 +601,7 @@ } ], "source": [ - "sorted_variant_cat_counts = dict(sorted(variant_category_counts.items(), key=lambda x: x[1], reverse=True))\n", - "sorted_variant_cat_counts" - ] - }, - { - "attachments": {}, - "cell_type": "markdown", - "metadata": {}, - "source": [ - "Below is the total percentage of variants for each category that we do not support" + "transcript_vars_total" ] }, { @@ -597,18 +612,7 @@ { "data": { "text/plain": [ - "{'FUSION': '8.86%',\n", - " 'EXPRESSION': '8.31%',\n", - " 'REGION_DEFINED_VAR': '5.22%',\n", - " 'PROTEIN_CONS': '3.75%',\n", - " 'OTHER': '2.57%',\n", - " 'GENE_FUNC': '2.48%',\n", - " 'REARRANGEMENTS': '1.44%',\n", - " 'COPY_NUMBER': '0.89%',\n", - " 'EPIGENETIC_MODIFICATION': '0.43%',\n", - " 'GENOTYPES_EASY': '0.29%',\n", - " 'GENOTYPES_COMPOUND': '0.17%',\n", - " 'INCOMPLETE_VAR': '0.14%'}" + "384" ] }, "execution_count": 16, @@ -617,7 +621,8 @@ } ], "source": [ - "{k: f\"{v / total_variants * 100:.2f}%\" for k, v in sorted_variant_cat_counts.items()}" + "transcript_vars_total_sum = sum(transcript_vars_total.values())\n", + "transcript_vars_total_sum" ] }, { @@ -628,7 +633,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 34.56% of the total variants'" + "'11.08% of the total variants were not attempted to be normalized due to no input query available'" ] }, "execution_count": 17, @@ -637,7 +642,7 @@ } ], "source": [ - "f\"The Variation Normalizer does not support {do_not_support_total_sum / total_variants * 100:.2f}% of the total variants\"" + "f\"{transcript_vars_total_sum / total_variants * 100:.2f}% of the total variants were not attempted to be normalized due to no input query available\"" ] }, { diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index f3ad32f9..60054747 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -24,13 +24,13 @@ variant_id gene_name variant_name category 552 ALK ALK Fusion G1269A Fusion 1307 TP53 ALTERATION Region Defined Variant 2211 BAP1 ALTERNATIVE TRANSCRIPT (ATI) Other -842 BRAF APC Incomplete Variants +842 BRAF APC Other 2772 NRG1 APP::NRG1 Fusion 3460 AR AR alternative transcripts Other 3622 TFE3 ASPSCR1::TFE3 Fusion 2846 JAK2 ATF7IP::JAK2 Fusion 2632 PDGFRB ATF7IP::PDGFRB Fusion -2758 BRCA1 ATM Incomplete Variants +2758 BRCA1 ATM Other 2178 NRG1 ATP1B1::NRG1 Fusion 309 EGFR AUTOCRINE ACTIVATION Expression 1296 CTNNB1 Activating Mutation Gene Function @@ -174,7 +174,7 @@ variant_id gene_name variant_name category 954 KIT DEL 554-558 Region Defined Variant 647 LRP1B DELETION Gene Function 3023 PML DELETION (p.K227_T233del) Protein Consequence -1663 BRAF DELNVTAP Incomplete Variants +1663 BRAF DELNVTAP Other 2685 DGKH DGKH::ZFAND3 Fusion 242 TP53 DNA Binding Domain Mutation Region Defined Variant 31 PRKACA DNAJB1::PRKACA Fusion @@ -217,7 +217,7 @@ variant_id gene_name variant_name category 1003 EGFR E746_T751>I Rearrangements 2847 JAK2 EBF1::JAK2 Fusion 535 PDGFRB EBF1::PDGFRB Fusion -3484 FN1 EDB Incomplete Variants +3484 FN1 EDB Other 4294 EGFR EGFR::BRAF Fusion 4283 EGFR EGFR::PPARGC1A Fusion 4282 EGFR EGFR::PURB Fusion @@ -612,7 +612,7 @@ variant_id gene_name variant_name category 2705 PBRM1 Loss-of-function Gene Function 3316 MEN1 Loss-of-function Gene Function 4269 ATRX Loss-of-function Gene Function -1247 BRCA2 M1R Incomplete Variants +1247 BRCA2 M1R Other 1889 VHL M54fs (c.161dup) Copy Number 638 RB1 M695FS*26 Protein Consequence 2227 BRAF MACF1::BRAF Fusion diff --git a/notebooks/analysis/civic/no_queries.csv b/notebooks/analysis/civic/transcript_variants.csv similarity index 100% rename from notebooks/analysis/civic/no_queries.csv rename to notebooks/analysis/civic/transcript_variants.csv From 36eb00de1c8c6f3c359eeb362c94554b3f313947 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Fri, 3 Mar 2023 15:42:57 -0500 Subject: [PATCH 16/29] wip: add variant accepted status to civic analysis --- .../civic/all_genomic_variant_queries.csv | 852 ++--- .../civic/all_protein_variant_queries.csv | 2932 ++++++++--------- notebooks/analysis/civic/civic_analysis.ipynb | 376 ++- .../analysis/civic/not_supported_variants.csv | 2398 +++++++------- .../analysis/civic/transcript_variants.csv | 770 ++--- .../civic/unable_to_normalize_queries.csv | 140 +- 6 files changed, 3839 insertions(+), 3629 deletions(-) diff --git a/notebooks/analysis/civic/all_genomic_variant_queries.csv b/notebooks/analysis/civic/all_genomic_variant_queries.csv index 8e14f74b..7359f2af 100644 --- a/notebooks/analysis/civic/all_genomic_variant_queries.csv +++ b/notebooks/analysis/civic/all_genomic_variant_queries.csv @@ -1,426 +1,426 @@ -variant_id hgvs_g -2489 NC_000003.11:g.10191648_10191649insC -1988 NC_000003.11:g.10191649A>T -2488 3-10191647-T-G -1986 NC_000003.11:g.10191648G>T -1987 NC_000003.11:g.10191649A>G -2152 NC_000003.11:g.10191719C>A -2024 3-10191656-C-G -2028 NC_000003.11:g.10188221_10188222delinsAT -3194 3-10188222-C-T -820 NC_000003.11:g.10188302G>T -1744 NC_000003.11:g.10188302G>A -2042 NC_000003.11:g.10188302delG -3173 NC_000003.11:g.10183681C>G -771 NC_000003.11:g.10183695_10183696insG -793 NC_000003.11:g.10183695_10183696insA -1785 NC_000003.11:g.10183697_10183698insA -2528 NC_000003.11:g.10191493C>A -1773 NC_000003.11:g.10191492G>T -1772 NC_000003.11:g.10191491T>C -1774 NC_000003.11:g.10191493C>G -1824 NC_000003.11:g.10191492G>A -2035 NC_000003.11:g.10191490del -3096 NC_000003.12:g.10142077_10142078insTCT -2123 NC_000003.11:g.10183760_10183762del -1813 NC_000003.11:g.10188219A>G -2154 NC_000003.11:g.10188218G>C -2446 NC_000003.11:g.10188218delG -3133 3-10188218-G-A -2554 NC_000003.11:g.10188234A>G -2533 NC_000003.11:g.10188233G>A -2053 NC_000003.11:g.10188233G>T -3040 3-10188286-C-T -3123 NC_000003.11:g.10191542G>A -2579 NC_000007.13:g.50450370del -2141 NC_000003.11:g.10191596del -2105 NC_000003.11:g.10191596G>A -2126 NC_000003.11:g.10191599_10191600del -2449 NC_000003.11:g.10183806A>G -2514 3-10183806-A-CC -1694 NC_000003.11:g.10183567G>C -1884 NC_000003.11:g.10188257G>T -2524 NC_000003.12:g.10146575_10146601del -2245 NC_000003.11:g.10191485G>T -1919 NC_000003.11:g.10191486_10191487delAG -2502 NC_000003.11:g.10191486A>T -2098 NC_000003.12:g.10149800del -2527 NC_000003.11:g.10191487delG -1976 NC_000003.11:g.10191524G>T -1777 NC_000003.11:g.10191563G>T -1778 NC_000003.11:g.10191563G>A -1829 NC_000003.11:g.10191565_10191567del -1869 NC_000003.11:g.10191572del -1733 NC_000003.11:g.10183667G>T -2466 NC_000003.11:g.10183685G>T -1734 NC_000003.11:g.10183685G>A -1736 NC_000003.11:g.10183694G>T -794 NC_000003.11:g.10183696G>A -764 NC_000003.11:g.10183694_10183695del -766 NC_000003.11:g.10183694del -1834 NC_000003.11:g.10183739G>T -1956 NC_000003.11:g.10183739G>A -1794 NC_000003.11:g.10183811G>T -2127 NC_000003.11:g.10183810del -2173 NC_000003.11:g.10183811G>A -2475 NC_000003.11:g.10188212T>C -1743 NC_000003.11:g.10188214C>G -2119 NC_000003.11:g.10188213T>C -1945 NC_000003.11:g.10188211_10188212del -1814 NC_000003.11:g.10188264T>G -1801 NC_000003.11:g.10188264T>C -1749 NC_000003.11:g.10183757T>A -2107 NC_000003.11:g.10183759C>G -1835 NC_000003.11:g.10183758T>C -2088 NC_000003.11:g.10183758_10183760del -1926 NC_000003.11:g.10183758_10183760delTCT -2294 NC_000003.11:g.10183804C>G -2293 NC_000003.11:g.10183843C>G -2043 NC_000003.11:g.10183842G>C -2428 NC_000003.11:g.10183842G>T -1797 NC_000003.11:g.10183871G>T -1857 NC_000003.11:g.10183871G>C -2026 NC_000003.11:g.10183871G>A -2491 NC_000003.11:g.10188198G>T -2555 NC_000003.11:g.10188238delG -1850 NC_000003.11:g.10188287G>T -2290 3-10188288-G-A -2059 NC_000003.11:g.10188287G>A -3197 3-10188287-G-C -3247 NC_000003.12:g.10146602_10146612del -2560 NC_000003.11:g.10188288delG -1737 NC_000003.11:g.10183645del -2008 NC_000003.11:g.10183808G>T -1858 NC_000003.11:g.10183809G>A -1920 NC_000003.11:g.10183808G>C -1859 NC_000003.11:g.10183808G>A -2009 NC_000003.11:g.10183809G>T -2463 NC_000003.11:g.10183860A>C -2516 NC_000003.11:g.10183860del -2520 NC_000003.11:g.10188200delC -1885 NC_000003.11:g.10188201A>C -1742 NC_000003.11:g.10188202C>A -1957 NC_000003.11:g.10188202C>G -2000 NC_000003.11:g.10188201A>G -1921 NC_000003.11:g.10188200C>T -2057 NC_000003.11:g.10188201del -2060 NC_000003.11:g.10188231A>C -3122 NC_000003.11:g.10188230C>T -2425 NC_000003.11:g.10191578C>G -1958 NC_000003.11:g.10191578del -1922 NC_000003.11:g.10183857del -2291 NC_000003.11:g.10188297T>C -2038 NC_000003.11:g.10188296A>G -2150 NC_000003.11:g.10188308A>T -2030 NC_000003.11:g.10188310C>G -2476 3-10188309-T-A -2250 NC_000003.11:g.10188309T>G -1871 NC_000003.11:g.10188309T>C -2246 NC_000003.11:g.10191546T>A -3012 NC_000003.11:g.10191546T>C -1807 NC_000003.11:g.10191545A>G -2329 NC_000003.12:g.10149938delinsAA -3146 3-10183755-T-G -1862 NC_000003.11:g.10191482A>G -2137 3-10191481-GAA-C -1913 NC_000003.11:g.10191593A>T -2147 NC_000003.11:g.10191593A>G -1838 NC_000003.11:g.10183832_10183833delinsGG -1860 NC_000003.11:g.10183833T>G -1820 NC_000003.11:g.10188203C>G -1798 NC_000003.11:g.10188210T>C -1822 NC_000003.11:g.10188210T>G -1841 NC_000003.11:g.10188209_10188210insA -1851 NC_000003.11:g.10188238_10188239delinsTT -3066 3-10188239-C-T -2157 NC_000003.11:g.10188240T>C -1886 NC_000003.11:g.10188240T>G -3068 NC_000003.11:g.10188238del -2034 NC_000003.11:g.10188243T>C -2508 NC_000003.11:g.10188243T>C -1769 NC_000003.11:g.10188261T>A -1906 NC_000003.11:g.10188261del -2559 NC_000003.11:g.10188276delT -1923 NC_000003.11:g.10188315T>C -1738 NC_000003.11:g.10191480T>C -2467 NC_000003.11:g.10191480T>A -1803 NC_000003.11:g.10191479C>G -2505 NC_000003.11:g.10191494C>T -2033 NC_000003.11:g.10191495T>A -3198 NC_000003.11:g.10191494C>A -2478 NC_000003.11:g.10191495T>C -2563 NC_000003.11:g.10191495delT -3097 NC_000003.11:g.10191512C>T -1887 NC_000003.11:g.10191513T>C -2326 NC_000003.12:g.10149828_10149833del -1748 NC_000003.11:g.10191540T>C -1997 NC_000003.11:g.10191540T>A -1888 NC_000003.11:g.10191540T>G -2070 NC_000003.11:g.10191558T>A -1776 NC_000003.11:g.10191558T>C -1808 NC_000003.11:g.10191558T>G -1852 NC_000003.11:g.10191570T>C -1861 NC_000003.11:g.10191570T>A -1924 NC_000003.11:g.10191570T>G -1836 NC_000003.11:g.10191569C>G -2139 NC_000003.11:g.10191569del -1828 NC_000003.11:g.10191570del -2501 NC_000003.11:g.10191600T>C -2010 NC_000003.11:g.10191600T>A -2247 NC_000003.11:g.10191600T>G -2543 NC_000003.11:g.10191599del -1944 NC_000003.11:g.10183719T>C -2020 NC_000003.11:g.10183785T>C -2308 NC_000003.11:g.10183797T>A -1793 NC_000003.11:g.10183797T>C -2549 3-10183797-T-G -847 NC_000003.11:g.10183531_10183551del -848 NC_000003.11:g.10183534G>A -846 NC_000003.11:g.10183532_10183548del -2868 NC_000003.11:g.10191638A>C -2177 NC_000003.11:g.10183693G>C -829 NC_000003.11:g.10183693_10183697del -1953 NC_000003.11:g.10188250C>A -2460 NC_000003.11:g.10188250C>G -2001 NC_000003.11:g.10188249A>G -2580 NC_000003.11:g.10188249A>C -1800 NC_000003.11:g.10188247_10188248del -1868 NC_000003.11:g.10188250_10188251delinsA -2317 NC_000003.11:g.10188277delC -2318 NC_000003.12:g.10146595_10146601del -1917 NC_000003.11:g.10188279_10188297del -2162 NC_000003.11:g.10188306A>G -2561 NC_000003.12:g.10146620del -1770 NC_000003.12:g.10146622del -2112 NC_000003.11:g.10183763A>G -1754 NC_000003.11:g.10183763A>C -2037 NC_000003.11:g.10183764A>T -1755 NC_000003.11:g.10183764A>G -1756 NC_000003.11:g.10183764A>C -2113 NC_000003.11:g.10183763A>T -849 NC_000003.11:g.10183550A>G -2878 NC_000003.11:g.10183799A>C -2149 NC_000003.11:g.10183800A>T -2058 NC_000003.11:g.10183836del -1927 NC_000003.11:g.10183838C>G -1795 NC_000003.11:g.10183840_10183841del -2118 NC_000003.11:g.10183839C>T -2866 3-10188271-A-G -2120 NC_000003.11:g.10188270C>T -2440 NC_000003.11:g.10188270C>G -1928 NC_000003.11:g.10188269C>A -2055 NC_000003.12:g.10146610del -1962 NC_000003.11:g.10188319A>C -1782 NC_000003.11:g.10188318C>T -2427 NC_000003.11:g.10188317C>T -1771 NC_000003.11:g.10188319del -2005 NC_000003.11:g.10191523del -2064 NC_000003.11:g.10191581C>T -1864 NC_000003.11:g.10191582del -850 NC_000003.11:g.10183605C>T -2430 NC_000003.11:g.10183650C>G -1930 NC_000003.11:g.10183706C>T -851 NC_000003.11:g.10183704_10183705insC -1929 NC_000003.11:g.10183707del -1931 NC_000003.11:g.10183714C>G -2145 NC_000003.11:g.10183713_10183716del -2084 NC_000003.11:g.10183773C>T -1837 NC_000003.11:g.10183772C>T -1759 NC_000003.11:g.10183787C>G -2307 NC_000003.11:g.10183788C>A -1760 NC_000003.11:g.10183788C>T -1849 NC_000003.11:g.10183788C>G -1902 NC_000003.11:g.10183787C>T -1758 NC_000003.11:g.10183785_10183786insC -2117 NC_000003.11:g.10183815C>G -2128 NC_000003.11:g.10183822C>G -2069 NC_000003.11:g.10183821C>T -1994 NC_000003.11:g.10188251C>T -1882 3-10188252-A-C -2125 NC_000003.11:g.10188252A>C -1883 NC_000003.11:g.10188290C>T -1781 NC_000003.11:g.10188292_10188293delGC -1845 NC_000003.11:g.10191497C>T -1943 3-10191499-G-C -2880 NC_000003.11:g.10191499G>T -2079 NC_000003.11:g.10191498A>T -1856 NC_000003.11:g.10191498A>G -1810 NC_000003.11:g.10191590C>T -1752 NC_000003.11:g.10183748C>T -2041 NC_000003.11:g.10183748del -1848 NC_000003.11:g.10183817C>T -1818 NC_000003.11:g.10183818A>C -3246 NC_000003.12:g.10142135_10142137del -2007 NC_000003.11:g.10183850C>G -2044 NC_000003.11:g.10183851G>A -1840 NC_000003.11:g.10183851G>C -1796 NC_000003.11:g.10183868C>T -2143 NC_000003.11:g.10183868delC -2877 3-10188215-A-T -1914 NC_000003.11:g.10188215A>G -2494 3-10188216-G-C -3244 NC_000003.12:g.10146531_10146532insAC -1804 NC_000003.11:g.10191488C>T -2148 NC_000003.11:g.10191488C>A -1915 NC_000003.11:g.10191488C>G -1855 NC_000003.11:g.10191489G>C -1746 NC_000003.11:g.10191489G>A -1805 NC_000003.11:g.10191506C>G -1916 NC_000003.11:g.10191507G>T -2458 NC_000003.11:g.10191507G>C -1739 NC_000003.11:g.10191507G>A -1747 NC_000003.11:g.10191506C>T -1975 3-10191506-CGGAGC-T -1780 NC_000003.11:g.10191533del -1827 NC_000003.11:g.10191536A>T -1907 NC_000003.11:g.10191535del -631 NC_000003.11:g.10191605C>T -2302 NC_000003.11:g.10183709_10183710del -1867 NC_000003.11:g.10183722G>C -2175 NC_000003.11:g.10183766C>T -1791 NC_000003.11:g.10183767G>C -2241 NC_000003.11:g.10183775C>T -2532 NC_000003.11:g.10183775C>G -2110 NC_000003.11:g.10183776G>T -1980 NC_000003.11:g.10183776G>C -2089 NC_000003.11:g.10183774_10183782del -1853 NC_000003.11:g.10183861_10183862delinsTT -2045 NC_000003.11:g.10183862A>T -1762 NC_000003.12:g.10142178del -2243 NC_000003.11:g.10183862A>G -1763 NC_000003.11:g.10183863G>A -2156 NC_000003.11:g.10183862A>C -2003 NC_000003.11:g.10183864C>A -1764 NC_000003.11:g.10183864C>G -2517 NC_000003.11:g.10183863del -2541 NC_000003.11:g.10188273C>T -2004 NC_000003.11:g.10191510delG -1941 NC_000003.11:g.10191510G>C -1784 NC_000003.11:g.10191555C>A -2161 NC_000003.11:g.10191555C>T -2503 NC_000003.11:g.10191555C>G -2100 NC_000003.11:g.10191555del -3135 3-10183643-T-C -1811 NC_000003.11:g.10183725C>A -2011 NC_000003.11:g.10183724T>G -2130 NC_000003.11:g.10183725delC -1788 NC_000003.11:g.10183725C>T -1903 NC_000003.11:g.10183724T>C -3048 NC_000003.11:g.10183724T>A -1751 NC_000003.11:g.10183725C>G -1787 NC_000003.11:g.10183725C>G -2122 NC_000003.11:g.10183734C>A -1873 NC_000003.11:g.10183733T>C -2012 NC_000003.11:g.10183734C>G -1904 NC_000003.11:g.10183745T>C -1816 NC_000003.12:g.10142061del -2106 NC_000003.11:g.10183769A>G -1757 NC_000003.11:g.10183770G>T -1874 NC_000003.11:g.10183770G>A -1963 NC_000003.11:g.10183769A>C -1792 3-10183771-T-G -2512 NC_000003.11:g.10183770_10183776del -2511 NC_000003.11:g.10183770del -2534 NC_000003.11:g.10183874_10183881delinsCG -2104 NC_000003.11:g.10183876G>C -2461 NC_000003.11:g.10188323A>C -2065 NC_000003.12:g.10146639A>G -2146 NC_000003.11:g.10188323A>T -2292 NC_000003.11:g.10188328C>T -1681 NC_000009.11:g.5070054T>G -2114 NC_000003.11:g.10183872G>A -2074 NC_000003.11:g.10183872G>T -2017 NC_000003.12:g.10146513G>A -2454 NC_000003.12:g.10146513G>T -2133 NC_000003.11:g.10188196A>C -2504 NC_000003.11:g.10188196A>G -1972 NC_000003.11:g.10188321G>A -1998 NC_000003.11:g.10188321G>C -2048 NC_000003.11:g.10188321G>T -2075 NC_000003.11:g.10188322T>C -1974 NC_000003.11:g.10191470G>A -2077 NC_000003.11:g.10191470G>C -1990 NC_000003.11:g.10191470G>T -2093 NC_000003.11:g.10191469A>C -2078 NC_000003.11:g.10191469A>G -1992 NC_000003.11:g.10191469A>T -2248 NC_000003.11:g.10183829A>G -1839 NC_000003.11:g.10183844A>C -2054 NC_000003.11:g.10188228C>T -1905 NC_000003.11:g.10188226del -1843 NC_000003.11:g.10188254del -2085 NC_000003.11:g.10188312C>T -3130 NC_000003.11:g.10188311A>C -1745 NC_000003.11:g.10191477C>T -2323 NC_000003.11:g.10191476delA -1875 NC_000003.11:g.10188245G>T -2380 NC_000003.11:g.10188245G>A -1970 NC_000003.11:g.10188245G>C -1909 NC_000003.11:g.10191471T>A -1934 NC_000003.11:g.10191471T>G -2076 NC_000003.11:g.10188320G>A -2437 NC_000003.11:g.10191504T>C -1775 NC_000003.11:g.10191504T>A -1825 NC_000003.11:g.10191503G>T -1910 NC_000003.11:g.10191516T>C -1826 NC_000003.11:g.10191516T>A -1806 NC_000003.11:g.10191515G>T -1935 NC_000003.11:g.10191516T>G -1847 NC_000003.11:g.10191547_10191550del -2493 NC_000003.11:g.10191588T>G -1789 NC_000003.11:g.10183727delG -1936 NC_000003.11:g.10183728T>G -1999 NC_000003.11:g.10183752T>G -2270 NG_008212.3:g.5426_5445del -1937 NC_000003.11:g.10183781G>C -1815 NC_000003.11:g.10183781G>T -2101 NC_000003.11:g.10183781G>A -2068 NC_000003.11:g.10183791T>C -2513 NC_000003.11:g.10183791T>A -2432 NC_000003.11:g.10183790_10183791insA -2249 NC_000003.11:g.10188207G>A -1821 NC_000003.11:g.10188208G>A -1767 NC_000003.11:g.10188208G>T -2521 NC_000003.11:g.10188206T>G -2522 NC_000003.11:g.10188206T>A -2523 NC_000003.11:g.10188207G>C -1294 NC_000003.11:g.10183555G>A -2151 NC_000003.11:g.10183794G>A -1908 NC_000003.11:g.10183795G>A -2124 NC_000003.11:g.10183795G>C -2039 NC_000003.11:g.10183794_10183796delinsTT -2242 NC_000003.11:g.10183794G>T -1761 NC_000003.11:g.10183793T>A -2056 NC_000003.11:g.10183793T>C -1966 NC_000003.11:g.10183794G>C -1766 NC_000003.11:g.10183867C>A -2818 NC_000003.11:g.10183866A>G -1865 NC_000003.11:g.10183865T>C -2006 NC_000003.11:g.10183865T>A -1968 NC_000003.11:g.10191475T>G -1946 NC_000003.11:g.10191474A>G -1967 NC_000003.11:g.10191473T>G -3182 NC_000003.11:g.10191473T>C -2013 NC_000003.11:g.10191473T>A -3193 NC_000003.11:g.10191474A>C -2453 NC_000003.11:g.10191472_10191477del -1932 NC_000003.11:g.10191532C>A -1969 NC_000003.11:g.10191532C>G -2138 NC_000003.11:g.10191532del -2067 NC_000003.11:g.10191531A>G -1846 NC_000003.11:g.10191530T>G -2066 NC_000003.11:g.10191530T>A -2115 NC_000003.11:g.10191562C>A -1809 NC_000003.11:g.10191562C>G -3125 NC_000003.11:g.10183825C>G -1933 NC_000003.11:g.10183824A>G -852 NC_000003.11:g.10183822_10183841del -2160 NC_000003.11:g.10183822delC -1741 NC_000003.11:g.10183823T>C -2484 NC_000003.11:g.10183823T>A -2480 NC_000003.11:g.10183824A>C -3022 NC_000003.11:g.10191943G>A -615 NC_000009.11:g.5070053_5070054insG -3161 3-10183878-G-A -877 NC_000020.11:g.58903752C>T -731 NC_000003.11:g.37056036G>A +variant_id hgvs_g variant_accepted +2489 NC_000003.11:g.10191648_10191649insC True +1988 NC_000003.11:g.10191649A>T True +2488 3-10191647-T-G True +1986 NC_000003.11:g.10191648G>T True +1987 NC_000003.11:g.10191649A>G True +2152 NC_000003.11:g.10191719C>A True +2024 3-10191656-C-G True +2028 NC_000003.11:g.10188221_10188222delinsAT True +3194 3-10188222-C-T False +820 NC_000003.11:g.10188302G>T True +1744 NC_000003.11:g.10188302G>A True +2042 NC_000003.11:g.10188302delG True +3173 NC_000003.11:g.10183681C>G False +771 NC_000003.11:g.10183695_10183696insG True +793 NC_000003.11:g.10183695_10183696insA True +1785 NC_000003.11:g.10183697_10183698insA True +2528 NC_000003.11:g.10191493C>A False +1773 NC_000003.11:g.10191492G>T True +1772 NC_000003.11:g.10191491T>C True +1774 NC_000003.11:g.10191493C>G True +1824 NC_000003.11:g.10191492G>A True +2035 NC_000003.11:g.10191490del True +3096 NC_000003.12:g.10142077_10142078insTCT True +2123 NC_000003.11:g.10183760_10183762del False +1813 NC_000003.11:g.10188219A>G True +2154 NC_000003.11:g.10188218G>C False +2446 NC_000003.11:g.10188218delG False +3133 3-10188218-G-A False +2554 NC_000003.11:g.10188234A>G False +2533 NC_000003.11:g.10188233G>A False +2053 NC_000003.11:g.10188233G>T False +3040 3-10188286-C-T False +3123 NC_000003.11:g.10191542G>A False +2579 NC_000007.13:g.50450370del False +2141 NC_000003.11:g.10191596del True +2105 NC_000003.11:g.10191596G>A False +2126 NC_000003.11:g.10191599_10191600del False +2449 NC_000003.11:g.10183806A>G True +2514 3-10183806-A-CC False +1694 NC_000003.11:g.10183567G>C False +1884 NC_000003.11:g.10188257G>T False +2524 NC_000003.12:g.10146575_10146601del False +2245 NC_000003.11:g.10191485G>T False +1919 NC_000003.11:g.10191486_10191487delAG True +2502 NC_000003.11:g.10191486A>T False +2098 NC_000003.12:g.10149800del True +2527 NC_000003.11:g.10191487delG False +1976 NC_000003.11:g.10191524G>T False +1777 NC_000003.11:g.10191563G>T True +1778 NC_000003.11:g.10191563G>A True +1829 NC_000003.11:g.10191565_10191567del False +1869 NC_000003.11:g.10191572del True +1733 NC_000003.11:g.10183667G>T True +2466 NC_000003.11:g.10183685G>T False +1734 NC_000003.11:g.10183685G>A True +1736 NC_000003.11:g.10183694G>T True +794 NC_000003.11:g.10183696G>A True +764 NC_000003.11:g.10183694_10183695del True +766 NC_000003.11:g.10183694del True +1834 NC_000003.11:g.10183739G>T True +1956 NC_000003.11:g.10183739G>A True +1794 NC_000003.11:g.10183811G>T True +2127 NC_000003.11:g.10183810del True +2173 NC_000003.11:g.10183811G>A False +2475 NC_000003.11:g.10188212T>C False +1743 NC_000003.11:g.10188214C>G True +2119 NC_000003.11:g.10188213T>C False +1945 NC_000003.11:g.10188211_10188212del False +1814 NC_000003.11:g.10188264T>G True +1801 NC_000003.11:g.10188264T>C True +1749 NC_000003.11:g.10183757T>A False +2107 NC_000003.11:g.10183759C>G False +1835 NC_000003.11:g.10183758T>C True +2088 NC_000003.11:g.10183758_10183760del True +1926 NC_000003.11:g.10183758_10183760delTCT False +2294 NC_000003.11:g.10183804C>G True +2293 NC_000003.11:g.10183843C>G True +2043 NC_000003.11:g.10183842G>C True +2428 NC_000003.11:g.10183842G>T True +1797 NC_000003.11:g.10183871G>T True +1857 NC_000003.11:g.10183871G>C True +2026 NC_000003.11:g.10183871G>A True +2491 NC_000003.11:g.10188198G>T False +2555 NC_000003.11:g.10188238delG False +1850 NC_000003.11:g.10188287G>T True +2290 3-10188288-G-A True +2059 NC_000003.11:g.10188287G>A False +3197 3-10188287-G-C False +3247 NC_000003.12:g.10146602_10146612del True +2560 NC_000003.11:g.10188288delG False +1737 NC_000003.11:g.10183645del False +2008 NC_000003.11:g.10183808G>T True +1858 NC_000003.11:g.10183809G>A False +1920 NC_000003.11:g.10183808G>C True +1859 NC_000003.11:g.10183808G>A True +2009 NC_000003.11:g.10183809G>T True +2463 NC_000003.11:g.10183860A>C False +2516 NC_000003.11:g.10183860del False +2520 NC_000003.11:g.10188200delC False +1885 NC_000003.11:g.10188201A>C True +1742 NC_000003.11:g.10188202C>A True +1957 NC_000003.11:g.10188202C>G True +2000 NC_000003.11:g.10188201A>G True +1921 NC_000003.11:g.10188200C>T True +2057 NC_000003.11:g.10188201del True +2060 NC_000003.11:g.10188231A>C False +3122 NC_000003.11:g.10188230C>T False +2425 NC_000003.11:g.10191578C>G False +1958 NC_000003.11:g.10191578del True +1922 NC_000003.11:g.10183857del False +2291 NC_000003.11:g.10188297T>C False +2038 NC_000003.11:g.10188296A>G False +2150 NC_000003.11:g.10188308A>T True +2030 NC_000003.11:g.10188310C>G True +2476 3-10188309-T-A False +2250 NC_000003.11:g.10188309T>G False +1871 NC_000003.11:g.10188309T>C True +2246 NC_000003.11:g.10191546T>A False +3012 NC_000003.11:g.10191546T>C False +1807 NC_000003.11:g.10191545A>G True +2329 NC_000003.12:g.10149938delinsAA False +3146 3-10183755-T-G False +1862 NC_000003.11:g.10191482A>G False +2137 3-10191481-GAA-C True +1913 NC_000003.11:g.10191593A>T True +2147 NC_000003.11:g.10191593A>G False +1838 NC_000003.11:g.10183832_10183833delinsGG True +1860 NC_000003.11:g.10183833T>G False +1820 NC_000003.11:g.10188203C>G True +1798 NC_000003.11:g.10188210T>C True +1822 NC_000003.11:g.10188210T>G False +1841 NC_000003.11:g.10188209_10188210insA True +1851 NC_000003.11:g.10188238_10188239delinsTT False +3066 3-10188239-C-T True +2157 NC_000003.11:g.10188240T>C False +1886 NC_000003.11:g.10188240T>G True +3068 NC_000003.11:g.10188238del False +2034 NC_000003.11:g.10188243T>C False +2508 NC_000003.11:g.10188243T>C True +1769 NC_000003.11:g.10188261T>A True +1906 NC_000003.11:g.10188261del True +2559 NC_000003.11:g.10188276delT False +1923 NC_000003.11:g.10188315T>C True +1738 NC_000003.11:g.10191480T>C True +2467 NC_000003.11:g.10191480T>A False +1803 NC_000003.11:g.10191479C>G True +2505 NC_000003.11:g.10191494C>T False +2033 NC_000003.11:g.10191495T>A True +3198 NC_000003.11:g.10191494C>A False +2478 NC_000003.11:g.10191495T>C False +2563 NC_000003.11:g.10191495delT False +3097 NC_000003.11:g.10191512C>T False +1887 NC_000003.11:g.10191513T>C True +2326 NC_000003.12:g.10149828_10149833del False +1748 NC_000003.11:g.10191540T>C True +1997 NC_000003.11:g.10191540T>A True +1888 NC_000003.11:g.10191540T>G True +2070 NC_000003.11:g.10191558T>A False +1776 NC_000003.11:g.10191558T>C True +1808 NC_000003.11:g.10191558T>G True +1852 NC_000003.11:g.10191570T>C True +1861 NC_000003.11:g.10191570T>A True +1924 NC_000003.11:g.10191570T>G True +1836 NC_000003.11:g.10191569C>G True +2139 NC_000003.11:g.10191569del True +1828 NC_000003.11:g.10191570del False +2501 NC_000003.11:g.10191600T>C False +2010 NC_000003.11:g.10191600T>A True +2247 NC_000003.11:g.10191600T>G False +2543 NC_000003.11:g.10191599del False +1944 NC_000003.11:g.10183719T>C False +2020 NC_000003.11:g.10183785T>C True +2308 NC_000003.11:g.10183797T>A False +1793 NC_000003.11:g.10183797T>C True +2549 3-10183797-T-G False +847 NC_000003.11:g.10183531_10183551del True +848 NC_000003.11:g.10183534G>A True +846 NC_000003.11:g.10183532_10183548del True +2868 NC_000003.11:g.10191638A>C False +2177 NC_000003.11:g.10183693G>C False +829 NC_000003.11:g.10183693_10183697del True +1953 NC_000003.11:g.10188250C>A True +2460 NC_000003.11:g.10188250C>G False +2001 NC_000003.11:g.10188249A>G True +2580 NC_000003.11:g.10188249A>C True +1800 NC_000003.11:g.10188247_10188248del True +1868 NC_000003.11:g.10188250_10188251delinsA False +2317 NC_000003.11:g.10188277delC False +2318 NC_000003.12:g.10146595_10146601del False +1917 NC_000003.11:g.10188279_10188297del False +2162 NC_000003.11:g.10188306A>G True +2561 NC_000003.12:g.10146620del True +1770 NC_000003.12:g.10146622del True +2112 NC_000003.11:g.10183763A>G False +1754 NC_000003.11:g.10183763A>C True +2037 NC_000003.11:g.10183764A>T True +1755 NC_000003.11:g.10183764A>G True +1756 NC_000003.11:g.10183764A>C True +2113 NC_000003.11:g.10183763A>T False +849 NC_000003.11:g.10183550A>G True +2878 NC_000003.11:g.10183799A>C False +2149 NC_000003.11:g.10183800A>T False +2058 NC_000003.11:g.10183836del True +1927 NC_000003.11:g.10183838C>G False +1795 NC_000003.11:g.10183840_10183841del True +2118 NC_000003.11:g.10183839C>T False +2866 3-10188271-A-G False +2120 NC_000003.11:g.10188270C>T False +2440 NC_000003.11:g.10188270C>G True +1928 NC_000003.11:g.10188269C>A True +2055 NC_000003.12:g.10146610del True +1962 NC_000003.11:g.10188319A>C True +1782 NC_000003.11:g.10188318C>T True +2427 NC_000003.11:g.10188317C>T False +1771 NC_000003.11:g.10188319del True +2005 NC_000003.11:g.10191523del False +2064 NC_000003.11:g.10191581C>T False +1864 NC_000003.11:g.10191582del False +850 NC_000003.11:g.10183605C>T True +2430 NC_000003.11:g.10183650C>G False +1930 NC_000003.11:g.10183706C>T False +851 NC_000003.11:g.10183704_10183705insC True +1929 NC_000003.11:g.10183707del True +1931 NC_000003.11:g.10183714C>G False +2145 NC_000003.11:g.10183713_10183716del True +2084 NC_000003.11:g.10183773C>T False +1837 NC_000003.11:g.10183772C>T True +1759 NC_000003.11:g.10183787C>G True +2307 NC_000003.11:g.10183788C>A False +1760 NC_000003.11:g.10183788C>T True +1849 NC_000003.11:g.10183788C>G True +1902 NC_000003.11:g.10183787C>T True +1758 NC_000003.11:g.10183785_10183786insC True +2117 NC_000003.11:g.10183815C>G False +2128 NC_000003.11:g.10183822C>G False +2069 NC_000003.11:g.10183821C>T False +1994 NC_000003.11:g.10188251C>T True +1882 3-10188252-A-C False +2125 NC_000003.11:g.10188252A>C True +1883 NC_000003.11:g.10188290C>T True +1781 NC_000003.11:g.10188292_10188293delGC False +1845 NC_000003.11:g.10191497C>T True +1943 3-10191499-G-C False +2880 NC_000003.11:g.10191499G>T False +2079 NC_000003.11:g.10191498A>T True +1856 NC_000003.11:g.10191498A>G True +1810 NC_000003.11:g.10191590C>T True +1752 NC_000003.11:g.10183748C>T True +2041 NC_000003.11:g.10183748del True +1848 NC_000003.11:g.10183817C>T True +1818 NC_000003.11:g.10183818A>C False +3246 NC_000003.12:g.10142135_10142137del True +2007 NC_000003.11:g.10183850C>G True +2044 NC_000003.11:g.10183851G>A True +1840 NC_000003.11:g.10183851G>C True +1796 NC_000003.11:g.10183868C>T True +2143 NC_000003.11:g.10183868delC True +2877 3-10188215-A-T False +1914 NC_000003.11:g.10188215A>G True +2494 3-10188216-G-C False +3244 NC_000003.12:g.10146531_10146532insAC True +1804 NC_000003.11:g.10191488C>T True +2148 NC_000003.11:g.10191488C>A True +1915 NC_000003.11:g.10191488C>G True +1855 NC_000003.11:g.10191489G>C True +1746 NC_000003.11:g.10191489G>A True +1805 NC_000003.11:g.10191506C>G False +1916 NC_000003.11:g.10191507G>T True +2458 NC_000003.11:g.10191507G>C True +1739 NC_000003.11:g.10191507G>A True +1747 NC_000003.11:g.10191506C>T True +1975 3-10191506-CGGAGC-T False +1780 NC_000003.11:g.10191533del True +1827 NC_000003.11:g.10191536A>T True +1907 NC_000003.11:g.10191535del True +631 NC_000003.11:g.10191605C>T True +2302 NC_000003.11:g.10183709_10183710del False +1867 NC_000003.11:g.10183722G>C True +2175 NC_000003.11:g.10183766C>T False +1791 NC_000003.11:g.10183767G>C True +2241 NC_000003.11:g.10183775C>T False +2532 NC_000003.11:g.10183775C>G False +2110 NC_000003.11:g.10183776G>T False +1980 NC_000003.11:g.10183776G>C True +2089 NC_000003.11:g.10183774_10183782del True +1853 NC_000003.11:g.10183861_10183862delinsTT True +2045 NC_000003.11:g.10183862A>T True +1762 NC_000003.12:g.10142178del True +2243 NC_000003.11:g.10183862A>G False +1763 NC_000003.11:g.10183863G>A True +2156 NC_000003.11:g.10183862A>C False +2003 NC_000003.11:g.10183864C>A False +1764 NC_000003.11:g.10183864C>G True +2517 NC_000003.11:g.10183863del False +2541 NC_000003.11:g.10188273C>T False +2004 NC_000003.11:g.10191510delG False +1941 NC_000003.11:g.10191510G>C False +1784 NC_000003.11:g.10191555C>A True +2161 NC_000003.11:g.10191555C>T False +2503 NC_000003.11:g.10191555C>G False +2100 NC_000003.11:g.10191555del False +3135 3-10183643-T-C False +1811 NC_000003.11:g.10183725C>A True +2011 NC_000003.11:g.10183724T>G True +2130 NC_000003.11:g.10183725delC True +1788 NC_000003.11:g.10183725C>T True +1903 NC_000003.11:g.10183724T>C True +3048 NC_000003.11:g.10183724T>A False +1751 NC_000003.11:g.10183725C>G False +1787 NC_000003.11:g.10183725C>G True +2122 NC_000003.11:g.10183734C>A False +1873 NC_000003.11:g.10183733T>C True +2012 NC_000003.11:g.10183734C>G True +1904 NC_000003.11:g.10183745T>C True +1816 NC_000003.12:g.10142061del True +2106 NC_000003.11:g.10183769A>G False +1757 NC_000003.11:g.10183770G>T True +1874 NC_000003.11:g.10183770G>A True +1963 NC_000003.11:g.10183769A>C True +1792 3-10183771-T-G True +2512 NC_000003.11:g.10183770_10183776del False +2511 NC_000003.11:g.10183770del True +2534 NC_000003.11:g.10183874_10183881delinsCG False +2104 NC_000003.11:g.10183876G>C True +2461 NC_000003.11:g.10188323A>C False +2065 NC_000003.12:g.10146639A>G False +2146 NC_000003.11:g.10188323A>T False +2292 NC_000003.11:g.10188328C>T True +1681 NC_000009.11:g.5070054T>G True +2114 NC_000003.11:g.10183872G>A True +2074 NC_000003.11:g.10183872G>T False +2017 NC_000003.12:g.10146513G>A False +2454 NC_000003.12:g.10146513G>T False +2133 NC_000003.11:g.10188196A>C True +2504 NC_000003.11:g.10188196A>G False +1972 NC_000003.11:g.10188321G>A False +1998 NC_000003.11:g.10188321G>C True +2048 NC_000003.11:g.10188321G>T False +2075 NC_000003.11:g.10188322T>C True +1974 NC_000003.11:g.10191470G>A True +2077 NC_000003.11:g.10191470G>C True +1990 NC_000003.11:g.10191470G>T True +2093 NC_000003.11:g.10191469A>C False +2078 NC_000003.11:g.10191469A>G True +1992 NC_000003.11:g.10191469A>T True +2248 NC_000003.11:g.10183829A>G False +1839 NC_000003.11:g.10183844A>C True +2054 NC_000003.11:g.10188228C>T False +1905 NC_000003.11:g.10188226del False +1843 NC_000003.11:g.10188254del True +2085 NC_000003.11:g.10188312C>T False +3130 NC_000003.11:g.10188311A>C False +1745 NC_000003.11:g.10191477C>T True +2323 NC_000003.11:g.10191476delA False +1875 NC_000003.11:g.10188245G>T False +2380 NC_000003.11:g.10188245G>A False +1970 NC_000003.11:g.10188245G>C True +1909 NC_000003.11:g.10191471T>A True +1934 NC_000003.11:g.10191471T>G True +2076 NC_000003.11:g.10188320G>A False +2437 NC_000003.11:g.10191504T>C True +1775 NC_000003.11:g.10191504T>A True +1825 NC_000003.11:g.10191503G>T True +1910 NC_000003.11:g.10191516T>C False +1826 NC_000003.11:g.10191516T>A True +1806 NC_000003.11:g.10191515G>T True +1935 NC_000003.11:g.10191516T>G True +1847 NC_000003.11:g.10191547_10191550del True +2493 NC_000003.11:g.10191588T>G False +1789 NC_000003.11:g.10183727delG False +1936 NC_000003.11:g.10183728T>G False +1999 NC_000003.11:g.10183752T>G True +2270 NG_008212.3:g.5426_5445del False +1937 NC_000003.11:g.10183781G>C False +1815 NC_000003.11:g.10183781G>T True +2101 NC_000003.11:g.10183781G>A True +2068 NC_000003.11:g.10183791T>C False +2513 NC_000003.11:g.10183791T>A False +2432 NC_000003.11:g.10183790_10183791insA True +2249 NC_000003.11:g.10188207G>A False +1821 NC_000003.11:g.10188208G>A False +1767 NC_000003.11:g.10188208G>T True +2521 NC_000003.11:g.10188206T>G False +2522 NC_000003.11:g.10188206T>A False +2523 NC_000003.11:g.10188207G>C False +1294 NC_000003.11:g.10183555G>A True +2151 NC_000003.11:g.10183794G>A True +1908 NC_000003.11:g.10183795G>A True +2124 NC_000003.11:g.10183795G>C False +2039 NC_000003.11:g.10183794_10183796delinsTT True +2242 NC_000003.11:g.10183794G>T False +1761 NC_000003.11:g.10183793T>A True +2056 NC_000003.11:g.10183793T>C True +1966 NC_000003.11:g.10183794G>C True +1766 NC_000003.11:g.10183867C>A True +2818 NC_000003.11:g.10183866A>G False +1865 NC_000003.11:g.10183865T>C True +2006 NC_000003.11:g.10183865T>A False +1968 NC_000003.11:g.10191475T>G True +1946 NC_000003.11:g.10191474A>G True +1967 NC_000003.11:g.10191473T>G True +3182 NC_000003.11:g.10191473T>C False +2013 NC_000003.11:g.10191473T>A True +3193 NC_000003.11:g.10191474A>C False +2453 NC_000003.11:g.10191472_10191477del False +1932 NC_000003.11:g.10191532C>A True +1969 NC_000003.11:g.10191532C>G True +2138 NC_000003.11:g.10191532del True +2067 NC_000003.11:g.10191531A>G True +1846 NC_000003.11:g.10191530T>G True +2066 NC_000003.11:g.10191530T>A True +2115 NC_000003.11:g.10191562C>A False +1809 NC_000003.11:g.10191562C>G True +3125 NC_000003.11:g.10183825C>G False +1933 NC_000003.11:g.10183824A>G True +852 NC_000003.11:g.10183822_10183841del True +2160 NC_000003.11:g.10183822delC True +1741 NC_000003.11:g.10183823T>C True +2484 NC_000003.11:g.10183823T>A False +2480 NC_000003.11:g.10183824A>C False +3022 NC_000003.11:g.10191943G>A False +615 NC_000009.11:g.5070053_5070054insG True +3161 3-10183878-G-A False +877 NC_000020.11:g.58903752C>T True +731 NC_000003.11:g.37056036G>A True diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv index 3d240a17..5f299af6 100644 --- a/notebooks/analysis/civic/all_protein_variant_queries.csv +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -1,1466 +1,1466 @@ -variant_id gene_name variant_name -748 MLH1 *757L -467 KDR A1065T -807 RUNX1 A107P -3683 JAK1 A1086S -3030 BCL2 A113G -3342 KRAS A11_G12insGA -3544 PTEN A121E -3528 PTEN A126D -3565 PTEN A126S -4131 TP53 A138K -3416 TP53 A138V -905 KRAS A146P -906 KRAS A146T -322 KRAS A146V -4134 TP53 A161D -4116 TP53 A161G -1114 TP53 A161T -4136 TP53 A161V -3976 BRCA1 A1708E -3994 BRCA1 A1789T -2929 PRPS1 A190T -2928 PRPS1 A190V -610 MTOR A2034V -3147 NTRK2 A203T -1169 ATM A2062V -1522 CDKN2A A20P -258 MTHFR A222V -1171 ATM A2274T -1217 ERBB3 A232V -3708 AR A234T -1050 TP53 A276V -996 EGFR A289V -4126 TP53 A347G -4023 FGFR3 A391E -752 MLH1 A424T -1588 SMO A459V -4248 PTPN11 A461T -1558 KIT A502_Y503insAY -2826 BRAF A598V -1646 POLE4 A59E -760 MLH1 A681V -2255 EGFR A702S -1198 BRAF A728V -3718 AR A748V -2332 EGFR A750T -1515 EGFR A763_Y764insFQEA -3725 AR A765T -2658 ERBB2 A775_G776insYVMA -3591 RIT1 A77P -3592 RIT1 A77S -990 KIT A829P -4127 TP53 A83E -1474 EGFR A859T -1187 EGFR A864T -3751 ARHGAP35 A865_L870delinsV -4129 TP53 A86E -4128 TP53 A86T -2939 PRPS1 A87T -153 FOXP1 AMPLIFICATION -154 REL AMPLIFICATION -204 NCOA3 AMPLIFICATION -224 TTF1 AMPLIFICATION -2655 MYB AMPLIFICATION -842 BRAF APC -2758 BRCA1 ATM -2844 MITF Amplificatioin -18 CCND1 Amplification -180 AURKA Amplification -187 CCNE1 Amplification -190 EGFR Amplification -212 PIK3CA Amplification -219 TERT Amplification -251 BIRC7 Amplification -267 FGFR1 Amplification -270 MET Amplification -298 MYCN Amplification -306 ERBB2 Amplification -321 MAPK1 Amplification -330 NOTCH1 Amplification -358 RSF1 Amplification -371 TOP1 Amplification -379 TYMS Amplification -407 ABCC3 Amplification -409 ASNS Amplification -553 CDK4 Amplification -573 RICTOR Amplification -586 KIT Amplification -591 RAF1 Amplification -592 KRAS Amplification -629 FGFR2 Amplification -630 FGF3 Amplification -635 AKT2 Amplification -716 PDGFRA Amplification -1261 MDM2 Amplification -1268 MDM4 Amplification -1269 BRAF Amplification -1276 SMO Amplification -1280 NTRK1 Amplification -1281 NTRK3 Amplification -1684 PSMD4 Amplification -1685 CDK6 Amplification -2205 FLT4 Amplification -2240 TLK2 Amplification -2397 CRKL Amplification -2550 NRAS Amplification -2564 MYC Amplification -2598 IRS2 Amplification -2619 FLT3 Amplification -2637 KDR Amplification -2746 CCND2 Amplification -2747 CCND3 Amplification -2906 FGFR3 Amplification -2907 FGFR4 Amplification -3687 KMT2A Amplification -4301 ALK Amplification -4331 ALK C1156Y -627 MAP2K1 C121S -4113 TP53 C124R -3547 PTEN C124S -2840 MAP2K2 C125S -198 FOXL2 C134W -2719 TP53 C135F -924 TP53 C135W -1111 TP53 C135Y -3382 PTEN C136R -1094 TP53 C141W -2713 MTOR C1483F -3413 MTOR C1483R -543 MTOR C1483Y -3389 TP53 C176F -4118 TP53 C176S -1116 TP53 C176Y -248 TERT C228T -3393 TP53 C238F -2648 TP53 C238Y -1062 TP53 C242F -1063 TP53 C242S -1064 TP53 C242Y -1172 ATM C2488Y -4004 TERT C250T -4124 TP53 C275F -917 TP53 C275Y -4145 TP53 C277Y -1647 POLD1 C284Y -3357 FGFR2 C342R -3358 FGFR2 C342Y -931 PIK3CA C420R -1586 SMO C469Y -1639 ABL1 C475V -4017 BTK C481R -168 BTK C481S -4016 BTK C481Y -3605 EZH2 C576W -3337 PIK3CA C604R -1260 RET C609Y -1700 RET C634R -112 RET C634W -2936 PRPS1 C77S -3003 EGFR C797G -415 EGFR C797S -1574 EGFR C797Y -1264 KIT C809G -3756 BAP1 C91S -2789 PIK3CA C971R -1660 MET D1010H -1651 MET D1010N -1649 MET D1010Y -2260 MET D1028N -3062 BCL2 D103E -3061 BCL2 D103V -3058 BCL2 D103Y -3380 CDKN2A D108H -3288 CDKN2A D108N -2791 CDKN2A D108Y -4015 PLCG2 D1140E -649 MET D1228N -798 MET D1228V -2935 PRPS1 D139G -3349 SPOP D140G -3553 PTEN D162G -135 NOTCH1 D1642H -1168 ATM D1682H -2196 DICER1 D1709E -2195 DICER1 D1709G -2051 DICER1 D1709N -3802 TSC2 D1734E -3980 BRCA1 D1739G -3981 BRCA1 D1739V -2197 DICER1 D1810H -2199 DICER1 D1810N -2198 DICER1 D1810Y -2920 PRPS1 D183E -2933 PRPS1 D183H -1160 ATM D1930V -634 STK11 D194E -806 RUNX1 D198Y -1641 ROS1 D2033N -3706 AR D221H -3401 TP53 D259V -3610 BRCA2 D2611G -3625 BRCA2 D2723A -3631 BRCA2 D2723G -3639 BRCA2 D2723H -1044 TP53 D281E -1045 TP53 D281G -3792 TP53 D281N -4146 TP53 D281Y -3495 ERBB3 D297Y -650 CASP8 D302H -3611 BRCA2 D3073G -661 BRCA2 D3095E -4222 AKT1 D323G -3256 CTNNB1 D32Y -1653 PIK3CA D350G -3338 PIK3CA D350N -2852 SMAD4 D351H -2995 TP53BP1 D353E -1606 ABL1 D363Y -240 NT5C2 D407A -855 KIT D419del -2468 PRKCB D427N -1560 SMO D473G -299 SMO D473H -1561 SMO D473Y -3959 SMAD4 D493H -3713 AR D528G -2858 SMAD4 D537Y -47 ESR1 D538G -1399 PIK3CA D549N -1547 KIT D579_H580insIDPTQLPYD -977 KIT D579del -4341 FLT3 D593del -579 BRAF D594A -2799 BRAF D594E -611 BRAF D594G -2832 BRAF D594H -2833 NECTIN4 D594H -2398 BRAF D594K -1107 BRAF D594N -580 BRAF D594V -3698 FGFR3 D617G -2573 PTPN11 D61Y -468 KDR D717V -1013 EGFR D761N -712 EGFR D761Y -35 ERBB2 D769H -36 ERBB2 D769Y -1512 EGFR D770_N771insG -1514 EGFR D770_N771insGL -1566 EGFR D770_N771insGT -1569 EGFR D770_N771insNPG -1445 EGFR D770_N771insSVD -2214 EGFR D770delinsGY -1559 KIT D816E -1402 KIT D816G -983 KIT D816H -65 KIT D816V -984 KIT D816Y -1265 KIT D820A -2736 KIT D820E -1266 KIT D820G -986 KIT D820Y -1397 FLT3 D835E -4340 FLT3 D835G -612 FLT3 D835H -3075 FLT3 D835I -4339 FLT3 D835N -1302 FLT3 D835V -3011 FLT3 D835Y -3167 FLT3 D839A -3160 FLT3 D839G -3169 FLT3 D839H -3168 FLT3 D839N -98 PDGFRA D842I -99 PDGFRA D842V -100 PDGFRA D842Y -102 PDGFRA D842_I843delinsVM -1518 PDGFRA D842_M844del -3374 CDKN2A D84G -3334 CDKN2A D84H -3285 CDKN2A D84N -3375 CDKN2A D84V -3333 CDKN2A D84Y -2574 SETBP1 D868N -3538 PTEN D92A -3539 PTEN D92E -3540 PTEN D92G -3541 PTEN D92H -3542 PTEN D92V -3293 PIK3CA D939G -2414 MAP2K1 E102_I103delEI -3290 PIK3CB E1051K -3464 EGFR E114K -566 MAP2K7 E116K -4329 ALK E1210K -2050 DICER1 E1705K -544 MTOR E1799K -4 AKT1 E17K -1227 AKT3 E17K -3585 TP53 E180K -2200 DICER1 E1813G -2201 DICER1 E1813K -2052 DICER1 E1813Q -3707 AR E198G -1626 MAP2K1 E203K -1162 ATM E2187* -3780 TP53 E224K -1601 ABL1 E258D -3772 TP53 E258K -1552 MAPK1 E278E -1603 ABL1 E281K -1043 TP53 E285K -3462 TP53 E285V -915 TP53 E286K -3621 BRCA2 E3002K -3496 ERBB4 E317K -320 MAPK1 E322K -2853 SMAD4 E330A -3521 SMAD4 E330K -1648 POLD1 E374K -1674 ESR1 E380Q -691 ERRFI1 E384* -3336 PIK3CA E39K -4306 KLF5 E419K -4307 KLF5 E419Q -1619 ABL1 E450A -1496 ABL1 E450G -1617 ABL1 E450K -1620 ABL1 E453V -1621 ABL1 E459G -3692 FGFR3 E466K -3343 SPOP E47K -3682 JAK1 E483D -773 MSH2 E483G -3345 SPOP E50K -2282 DROSHA E518K -103 PIK3CA E542K -933 PIK3CA E542Q -882 PIK3CA E545A -934 PIK3CA E545D -883 PIK3CA E545G -104 PIK3CA E545K -881 PIK3CA E545Q -884 PIK3CA E545V -2709 PIK3CA E545X -955 KIT E554D -3449 BRAF E585K -1631 FLT3 E588_Y589INSKYFYVDFRE -4106 TP53 E68G -1412 EGFR E709K -1413 EGFR E709Q -1572 EGFR E734Q -724 EGFR E746G -1431 EGFR E746K -1005 EGFR E746V -1002 EGFR E746_A750del -1009 EGFR E746_S752delinsD -4280 EGFR E746_S752insV -1004 EGFR E746_T751delinsA -1214 EGFR E746_T751delinsVA -3754 BACH2 E788K -3504 ERCC2 E79D -4320 NFE2L2 E79K -3960 NFE2L2 E79Q -1500 PIK3CA E81K -3430 NFE2L2 E82D -4107 SOS1 E846K -1482 EGFR E868G -3505 ERCC2 E86Q -1390 EGFR E884K -3332 CDKN2A E88K -3537 PTEN E91A -3484 FN1 EDB -4005 EWSR1 EWSR1-ERG -1158 ATM F1025L -3082 BCL2 F104I -3028 BCL2 F104L -3027 BCL2 F104S -1492 ALK F1174C -8 ALK F1174L -1505 ALK F1174V -549 ALK F1245C -1295 ALK F1245V -1174 NOTCH1 F1592C -1127 NOTCH1 F1592S -2714 MTOR F1888L -470 MTOR F2108L -457 FCGR3A F212V -2285 CRLF2 F232C -2802 BRAF F247L -1053 TP53 F270S -1164 ATM F2732V -2063 STK11 F354L -3516 FGFR3 F384L -2616 EGFR F404I -2617 EGFR F404V -1538 ABL1 F486Y -3240 KIT F504A -1270 MAP2K1 F53L -2839 MAP2K1 F53Y -4223 AKT1 F55Y -1398 MAP2K2 F57C -3450 BRAF F594L -1121 BRAF F595L -3468 NTRK3 F617L -3071 FLT3 F691L -2587 JAK2 F694L -3593 RIT1 F82L -1881 ATM F858L -175 AR F877L -3536 PTEN F90L -3667 PIK3CA F930S -3437 PIK3CA G1007R -3026 BCL2 G101A -2960 BCL2 G101V -1501 PIK3CA G1049A -940 PIK3CA G1049R -939 PIK3CA G1049S -3341 KRAS G10_A11insG -1673 ERBB4 G1109C -2798 ALK G1128A -171 ALK G1202R -4334 ALK G1269S -3549 PTEN G127E -2835 MAP2K1 G128V -3563 PTEN G129E -3562 PTEN G129R -3561 PTEN G129V -148 KRAS G12A -78 KRAS G12C -897 NRAS G12C -79 KRAS G12D -878 NRAS G12D -1387 HRAS G12D -530 KRAS G12R -898 NRAS G12S -913 KRAS G12S -425 KRAS G12V -1175 NRAS G12V -1394 HRAS G12V -2873 MAP2K2 G132D -2874 MAP2K2 G132S -895 NRAS G13C -911 KRAS G13C -81 KRAS G13D -93 NRAS G13D -274 HRAS G13D -896 NRAS G13R -1393 HRAS G13R -1395 KRAS G13R -1396 KRAS G13S -1317 NRAS G13V -1489 HRAS G13V -1517 KRAS G13V -2676 EP300 G1506V -3419 TP53 G154S -3559 PTEN G165E -3560 PTEN G165V -3973 BRCA1 G1706A -3972 BRCA1 G1706E -2922 PRPS1 G174E -3993 BRCA1 G1770V -3793 TP53 G177E -1271 ROS1 G2032R -3152 GNA11 G209P -3153 GNAQ G209P -1060 TP53 G244S -3397 TP53 G244V -1036 TP53 G245D -879 TP53 G245S -3331 LZTR1 G248R -2279 CRLF2 G24R -1599 ABL1 G250V -3523 SMAD4 G252* -141 DDR2 G253C -3615 BRCA2 G2585R -3628 BRCA2 G2609D -4144 TP53 G262C -3773 TP53 G262D -3774 TP53 G266E -1055 TP53 G266R -4122 TP53 G266V -2838 MAP2K1 G276W -3613 BRCA2 G2793E -3616 BRCA2 G2793R -3791 TP53 G279E -703 ERBB3 G284R -3623 BRCA2 G3076E -3620 BRCA2 G3076V -38 ERBB2 G309A -3457 NFE2L2 G31A -2283 ACVR1 G328E -1686 ACVR1 G328V -2280 ACVR1 G328W -1657 ABL1 G340L -3492 CTNNB1 G34E -3253 CTNNB1 G34R -3379 H3-3A G34R -2576 CTNNB1 G34V -3378 H3-3A G34V -2421 H3-3A G34W -3662 ACVR1 G356D -2788 PIK3CA G363A -3286 PTEN G36R -2406 FGFR3 G370C -3381 PIK3R2 G373R -2405 FGFR3 G380R -3522 SMAD4 G386D -3520 SMAD4 G419V -3432 BRAF G463E -3442 BRAF G463V -1106 BRAF G464V -3443 BRAF G465A -2603 EGFR G465E -443 EGFR G465R -2604 EGFR G465V -1196 BRAF G466A -2792 BRAF G466E -2222 BRAF G466V -3441 BRAF G468A -992 BRAF G469A -993 BRAF G469E -840 BRAF G469R -3425 BRAF G469S -841 BRAF G469V -2221 BRAF G496A -1584 SMO G497W -142 DDR2 G505S -1624 ABL1 G514S -4007 DDX41 G530D -1678 FBXW7 G579W -2823 BRAF G593D -2690 NTRK1 G595R -694 BRAF G596C -1627 BRAF G596R -1650 BRAF G596V -997 EGFR G598V -2223 BRAF G606E -2855 NTRK3 G623E -2691 NTRK3 G623R -3215 FGFR4 G636C -3699 FGFR3 G637W -3488 EGFR G63R -759 MLH1 G65D -757 MLH1 G67R -1692 FGFR3 G691R -4030 FGFR3 G697C -2817 FLT3 G697R -3212 FLT3 G697S -999 EGFR G719A -1420 EGFR G719D -134 EGFR G719S -317 EGFR G724S -3346 SPOP G75R -144 DDR2 G774V -816 ERBB2 G776L -3649 KDR G800D -3650 KDR G800R -4298 FGFR3 G802_X807del -3226 RET G810C -1016 EGFR G810S -3227 RET G810S -3651 KDR G843D -772 HOXB13 G84E -865 PDGFRA G853D -351 SETBP1 G870S -1151 PIK3CA H1047L -107 PIK3CA H1047R -2710 PIK3CA H1047X -938 PIK3CA H1047Y -2957 MET H1112L -4112 TP53 H115Y -3546 PTEN H123D -2872 MAP2K2 H123Q -3803 SMAD4 H132Y -456 FCGR2A H167R -3963 BRCA1 H1686Q -3962 BRCA1 H1686R -4138 TP53 H168Q -4137 TP53 H168R -3783 TP53 H168Y -4103 TP53 H178P -1082 TP53 H179R -1083 TP53 H179Y -3996 BRCA1 H1862L -4119 TP53 H193L -283 MTOR H1968Y -1595 ABL1 H201L -4335 TP53 H214R -1446 EGFR H773_V774insH -1513 EGFR H773_V774insNPH -864 PDGFRA H845Y -874 ERBB2 H878Y -3529 PTEN H93D -3530 PTEN H93Q -3340 PTEN H93R -3531 PTEN H93Y -4323 CBL H94Y -259 GSTP1 I105V -263 ABCB1 I1145I -4387 ALK I1171N -3371 ALK I1171T -3545 PTEN I122S -787 CHEK2 I157T -3768 TP53 I162F -3555 PTEN I168F -458 FCGR2B I232T -1598 ABL1 I242T -3758 U2AF1 I24T -3630 BRCA2 I2627F -3255 CTNNB1 I35K -1235 PIK3CA I391M -1585 SMO I408V -1615 ABL1 I418S -1614 ABL1 I418V -2599 EGFR I462K -2600 EGFR I462R -3448 BRAF I462S -2608 EGFR I491K -2609 EGFR I491R -4022 FGFR3 I538F -143 DDR2 I638F -2677 ERBB2 I654V -758 MLH1 I68S -2937 PRPS1 I72V -2259 EGFR I744_K745insKIPVAI -3664 ERBB2 I767M -3572 FLT3 I836S -3573 FLT3 I836T -101 PDGFRA I843DEL -755 MSH6 I972F -1234 PIK3CA K111N -1120 KRAS K117N -3584 TP53 K120E -3596 TP53 K120R -3548 PTEN K125E -3564 PTEN K128N -3764 TP53 K139E -770 MSH2 K172* -2921 PRPS1 K176N -2815 H3C2 K27M -3939 H3-3A K27M -3944 H3C14 K27M -3594 H3-3A K27R -2416 H3-3A K28M -1155 ATM K293* -3402 TP53 K305M -4147 TP53 K305N -2871 BRCA2 K3326* -239 NT5C2 K359Q -3745 CTCF K365T -2420 H3-3B K36M -3440 KLF4 K409Q -2775 BRAF K439Q -2776 BRAF K439T -2605 EGFR K467N -455 EGFR K467T -581 BRAF K483M -2622 KIT K484_G487DEL -2607 EGFR K489E -2606 EGFR K489Q -949 KIT K550_K558del -2696 KIT K550_K559DEL -948 KIT K550_W557del -963 KIT K558Q -965 KIT K558R -964 KIT K558_V559del -1272 MAP2K1 K57N -824 MAP2K1 K57T -3455 BRAF K600E -584 BRAF K601E -733 MLH1 K618DEL -978 KIT K642E -2592 KIT K642R -4024 FGFR3 K650D -1400 FGFR3 K650E -4025 FGFR3 K650L -4013 FGFR3 K650M -3695 FGFR3 K650N -4019 FGFR3 K650Q -4021 FGFR3 K650T -2947 FGFR2 K660E -3166 FLT3 K663Q -114 SF3B1 K666N -565 SF3B1 K700E -3490 EGFR K708R -3714 AR K720E -1638 EGFR K745_E749delKELRE -264 ERCC2 K751Q -1312 ERBB2 K753E -4319 SMARCA2 K755R -1314 ERBB2 K755S -723 EGFR K757R -1895 EGFR K806E -802 RUNX1 K83E -3666 PIK3CA K944N -3669 PIK3CA K966E -4111 TP53 L111R -1554 ALK L1152P -307 ALK L1152R -4332 ALK L1152V -4324 ALK L1196M -1553 ALK L1196Q -1275 ALK L1198F -1556 ALK L1198P -3031 BCL2 L119V -3032 MYOD1 L122R -2168 RAD50 L1237F -3660 CYSLTR2 L129Q -1099 TP53 L130V -3078 VHL L135* -4114 TP53 L139N -4273 BRCA1 L1407P -1032 NOTCH1 L1574P -1145 NOTCH1 L1574Q -1142 NOTCH1 L1585R -1031 NOTCH1 L1600P -1140 NOTCH1 L1600Q -1034 NOTCH1 L1678P -3335 CDKN2A L16P -2675 MSH2 L173P -3982 BRCA1 L1764P -2919 PRPS1 L191F -1078 TP53 L194P -3392 TP53 L194R -2716 MTOR L2230V -140 DDR2 L239R -1163 ATM L2427P -3414 MTOR L2427Q -3755 BACH2 L24P -3624 BRCA2 L2510P -3771 TP53 L252F -3801 TP53 L257P -3640 BRCA2 L2647P -3642 BRCA2 L2653P -3612 BRCA2 L2654P -424 MYD88 L265P -3638 BRCA2 L2688P -1602 ABL1 L273M -3617 BRCA2 L2792P -1506 ABL1 L298V -3643 PIM1 L2V -4125 TP53 L305M -3775 TP53 L308M -4322 NFE2L2 L30F -3776 TP53 L323P -3580 TP53 L330P -3581 TP53 L330R -3583 TP53 L344P -1570 SMO L412F -4313 POLE L424I -4158 POLE L424V -2842 MAP2K2 L46F -2804 BRAF L485F -658 BRAF L505H -2793 BRAF L525R -1191 AKT1 L52R -46 ESR1 L536Q -1675 ESR1 L536R -72 KIT L576P -1540 PDGFRA L579M -3705 AR L57Q -3451 BRAF L596V -583 BRAF L597Q -288 BRAF L597R -582 BRAF L597S -585 BRAF L597V -2401 FGFR3 L608V -1309 ERBB2 L638S -139 DDR2 L63V -2999 EGFR L718Q -3000 EGFR L718V -3717 AR L744F -1891 EGFR L747P -1012 EGFR L747_P753delinsS -890 EGFR L747_S752del -1580 EGFR L747_S752delinsQ -1007 EGFR L747_T751delLREAT -1010 EGFR L747_T751delinsP -1008 EGFR L747_T751delinsQ -1313 ERBB2 L753E -1304 ERBB2 L755P -39 ERBB2 L755S -40 ERBB2 L755W -37 ERBB2 L755_T759del -1308 ERBB2 L768S -3004 EGFR L792H -1457 EGFR L838P -1018 EGFR L838V -3648 KDR L840F -1473 EGFR L858Q -33 EGFR L858R -1020 EGFR L861Q -1477 EGFR L861R -496 ERBB2 L866M -2330 ERBB2 L869R -3670 PIK3CA L938* -937 PIK3CA M1043I -2940 PRPS1 M115T -3301 SPOP M117I -3280 SPOP M117V -3372 MET M1250T -3966 BRCA1 M1628T -3965 BRCA1 M1652I -1248 BRCA2 M1I -747 MLH1 M1L -1247 BRCA2 M1R -609 MTOR M2327I -1066 TP53 M237I -1597 ABL1 M237V -3396 TP53 M243T -3398 TP53 M246A -3789 TP53 M246L -4105 TP53 M246R -3399 TP53 M246T -1610 ABL1 M388L -1622 ABL1 M472I -769 MLH1 M490T -1288 JAK3 M511I -3515 FGFR3 M528I -201 KIT M541L -951 KIT M552_W557DEL -3165 FLT3 M664I -2745 EGFR M766Q -1664 EGFR M766_A767insAI -2213 EGFR M766_A767insASV -818 ERBB2 M774DELINSWLV -3588 RIT1 M90I -113 RET M918T -3435 MYOD1 MYOD1 L122R -3438 PIK3CA N1044K -2924 PRPS1 N114D -2843 MAP2K2 N126D -778 SLCO1B1 N130D -2923 PRPS1 N144S -3281 ERCC2 N238S -3394 TP53 N239D -3787 TP53 N239S -3395 TP53 N239T -244 ATM N2875H -3641 BRCA2 N3124I -930 PIK3CA N345K -3679 ETV6 N385_R418del -3681 JAK1 N451S -2794 BRAF N486_P490del -3237 KIT N505I -3238 KIT N505R -3216 FGFR4 N535K -4028 FGFR3 N540D -3693 FGFR3 N540K -3694 FGFR3 N540S -515 FGFR1 N546K -2780 FGFR2 N549H -545 FGFR2 N550K -751 MLH1 N551T -1652 PIK3R2 N561D -4014 PLCG2 N571S -3444 BRAF N580S -1186 BRAF N581S -3053 FLT3 N676K -3719 AR N756D -3304 EGFR N771_P772insL -1662 EGFR N771delinsVH -987 KIT N822H -1263 KIT N822K -1188 EGFR N826S -1896 EGFR N826Y -3201 FLT3 N841I -3213 FLT3 N841K -3308 FLT3 N841T -1899 EGFR N842S -873 ERBB2 N857S -3532 PTEN N94I -2837 MAP2K1 P124L -82 MAP2K1 P124S -734 MLH1 P138T -761 MSH6 P138T -1644 PXDNL P1460T -3418 TP53 P151A -1093 TP53 P151H -3765 TP53 P151S -3767 TP53 P152L -3794 TP53 P152T -3556 PTEN P169H -3785 TP53 P177F -3786 TP53 P177H -3784 TP53 P177S -3299 PPP2R1A P179R -3997 BRCA1 P1812R -402 NQO1 P187S -4141 TP53 P190H -1080 TP53 P190L -813 ETV6 P214L -3778 TP53 P219H -284 MTOR P2213S -3318 TP53 P250L -2905 FGFR2 P253R -1218 ERBB3 P262H -3005 TP53 P278A -1049 TP53 P278S -4315 POLE P286H -1830 POLE P286R -3570 CCND1 P287S -3571 CCND1 P287T -367 RAC1 P29S -3711 AR P340L -3266 KRAS P34R -3289 CTCF P378L -3602 ATXN7 P40Q -1291 JAK1 P429S -3603 ATXN7 P42_P43insP -1616 ABL1 P441L -3458 PIK3CA P447_L455del -294 PIK3CA P471L -504 TP53 P47S -1623 ABL1 P480L -3377 CDKN2A P48L -2796 BRAF P490_Q494del -3712 AR P504L -1582 EGFR P546S -950 KIT P551L -1497 KIT P551_E554delPMYE -976 KIT P577L -862 PDGFRA P577S -2738 KIT P577_D579DEL -3489 EGFR P596L -2180 TSPYL1 P62S -2990 BRCA2 P655R -531 TP53 P72R -2224 BRAF P731T -460 EGFR P753S -2217 EGFR P772_H773insH -1667 EGFR P772_H773insYNP -1668 EGFR P772_V774insPHV -2697 PAX5 P80R -3644 PIM1 P81S -3384 CDKN2A P81T -1465 EGFR P848L -480 DNMT3A P904L -3348 SPOP P94A -4304 SRSF2 P95H -3533 PTEN P95L -4303 SRSF2 P95L -3534 PTEN P96Q -3761 TP53 P98L -3760 TP53 P98S -3302 TYK2 Pro1104Ala -1159 ATM Q1084* -469 TSC2 Q1178* -260 ABCG2 Q141K -3777 TP53 Q144P -4132 TP53 Q144Q -1246 BRCA1 Q1467* -753 MLH1 Q149* -4135 TP53 Q167R -1654 NRAS Q179X -1593 PTCH1 Q17X -604 GNAQ Q209P -479 KRAS Q22* -1520 MTOR Q2223K -1643 SCN8A Q225X -2700 CBL Q294E -3601 ATXN7 Q30R -261 XRCC1 Q399R -3600 ATXN7 Q39P -3590 RIT1 Q40L -1510 ARID1A Q456* -1564 SMO Q477E -614 JAK1 Q503* -3663 BRAF Q524L -886 PIK3CA Q546E -885 PIK3CA Q546K -887 PIK3CA Q546P -888 PIK3CA Q546R -1541 KIT Q556_I571DEL -83 MAP2K1 Q56P -655 MAP2K1 Q56_V60del -975 KIT Q575L -1104 KRAS Q61E -893 NRAS Q61H -907 KRAS Q61H -427 NRAS Q61K -910 KRAS Q61K -1392 HRAS Q61K -95 NRAS Q61L -854 HRAS Q61L -908 KRAS Q61L -1103 KRAS Q61P -96 NRAS Q61R -909 KRAS Q61R -1391 HRAS Q61R -981 KIT Q694K -3576 ERBB2 Q709L -3433 RRAS2 Q72L -1592 PTCH1 Q787X -3726 AR Q798E -169 AKT1 Q79K -3589 RIT1 Q79L -1157 ATM Q984E -4000 RAF1 QKI-RAF1 -741 MLH1 R100* -2774 MET R1004G -3653 KDR R1022Q -1594 PIK3CA R1023Q -3350 KDR R1032Q -702 ERBB3 R103G -714 TSC1 R1062W -994 EGFR R108K -3282 TP53 R110L -4318 SMARCA2 R1159Q -1661 ALK R1192P -3498 ERBB3 R1202W -2645 KDM6A R1213* -3300 SPOP R121Q -776 MSH6 R1242C -767 MSH6 R1242H -9 ALK R1275Q -3292 NF1 R1276Q -3060 BCL2 R129L -636 PTEN R130* -1037 PTEN R130G -899 PTEN R130Q -59 IDH1 R132C -927 IDH1 R132G -420 IDH1 R132H -880 IDH1 R132L -928 IDH1 R132S -4102 TP53 R156H -3795 TP53 R156P -1170 ATM R1575H -3967 BRCA1 R1589P -4133 TP53 R158C -4115 TP53 R158G -1695 TP53 R158H -1699 TP53 R158L -3543 PTEN R15K -1628 NF1 R163X -1207 KRAS R164Q -814 DDX41 R164W -3470 EGFR R165Q -3971 BRCA1 R1699W -2364 PREX2 R172I -63 IDH2 R172K -838 PTEN R173C -3420 TP53 R174K -1085 TP53 R174W -116 TP53 R175H -3796 TP53 R181C -3797 TP53 R181G -3798 TP53 R181H -4140 TP53 R181L -3390 TP53 R181P -471 RAD51D R186* -249 XRCC1 R194W -4142 TP53 R196Q -826 GNAS R201C -1319 GNAS R201H -4305 CIC R201W -2857 ROS1 R2033N -1161 ATM R2034P -3661 ACVR1 R206H -3575 PMS2 R20Q -2711 TP53 R213* -1109 TP53 R213P -4121 TP53 R213Q -1683 ALK R214H -3439 MTOR R2152C -3431 CIC R215W -3344 EGFR R222C -754 MLH1 R226* -136 NOTCH1 R2327W -110 PTEN R233* -1252 BRCA2 R2336P -2896 NT5C2 R238W -1156 ATM R2459C -2403 FGFR3 R248C -3069 NTRK3 R248C -920 TP53 R248L -117 TP53 R248Q -118 TP53 R248W -3400 TP53 R249G -1696 TP53 R249S -556 CDK4 R24C -3961 EGFR R252C -2275 ACVR1 R258G -3618 BRCA2 R2659G -749 MLH1 R265G -3421 TP53 R267Q -121 TP53 R273C -122 TP53 R273H -918 TP53 R273L -2753 PRKN R275W -3619 BRCA2 R2784Q -3626 BRCA2 R2784W -1697 TP53 R280K -1698 TP53 R280T -1108 TP53 R282L -916 TP53 R282W -3799 TP53 R283H -3422 TP53 R283P -3608 BRCA2 R2842C -903 ATM R3008C -4148 TP53 R306E -768 PMS2 R315* -3423 TP53 R337C -3424 TP53 R337H -1112 TP53 R337L -3582 TP53 R337P -4149 TP53 R337S -3579 TP53 R342P -1656 ABL1 R351W -2276 AMER1 R358X -2851 SMAD4 R361C -238 NT5C2 R367Q -812 ETV6 R369Q -3757 SMAD3 R373H -3339 CTCF R377H -727 MSH2 R383* -1680 RAF1 R391W -811 ETV6 R399C -3463 PALB2 R414X -3678 ETV6 R418G -454 EGFR R451C -3144 NTRK2 R458G -3447 BRAF R461I -3671 FBXW7 R465C -2647 FBXW7 R465H -3672 FBXW7 R479Q -3519 SMAD4 R496H -1503 FBXW7 R505C -1504 FBXW7 R505H -3673 FBXW7 R505L -2803 BRAF R558Q -1679 FBXW7 R658Q -3696 FGFR3 R669G -3697 FGFR3 R669Q -42 ERBB2 R678Q -2829 JAK2 R683G -3604 EZH2 R690C -2333 EGFR R705K -3716 AR R726L -3485 DNMT3A R736H -1181 EGFR R776C -1017 EGFR R831H -2741 EGFR R832L -863 PDGFRA R841K -2782 TEK R849W -3376 CDKN2A R87P -1125 DNMT3A R882H -1124 DNMT3A R882P -929 PIK3CA R88Q -43 ERBB2 R896C -3434 PIK3CA R93Q -1178 PIK3CA R93W -502 KDR R961W -2790 PIK3CA R975S -3685 PTPRD R995C -3429 ARHGAP35 R997* -2925 PRPS1 S103I -2926 PRPS1 S103N -2927 PRPS1 S103T -3497 ERBB2 S1050L -2165 FANCA S1088F -3647 KDR S1100F -4333 ALK S1206R -4130 TP53 S127Y -3969 BRCA1 S1486C -1499 PIK3CA S158L -3964 BRCA1 S1655F -3557 PTEN S170R -3391 TP53 S183L -2347 IL7R S185C -1671 ROS1 S1986F -1670 ROS1 S1986Y -4290 MPL S204P -10 ARAF S214C -2715 MTOR S2215F -542 MTOR S2215Y -4143 TP53 S227C -243 ATM S2289* -1065 TP53 S241C -2777 TP53 S241F -3788 TP53 S241T -628 FGFR3 S249C -3674 NOTCH1 S2514A -3676 NOTCH1 S2514E -3677 NOTCH1 S2514P -4312 SMAD2 S276L -1562 SMO S278I -3709 AR S296R -2946 FGFR2 S320C -3710 AR S334P -3254 CTNNB1 S33F -2281 CTNNB1 S37C -1495 ABL1 S438C -2615 EGFR S442I -2614 EGFR S442R -2897 NT5C2 S445F -3502 ERCC2 S44L -1832 POLE S459F -1286 CTNNB1 S45F -1287 CTNNB1 S45P -692 ESR1 S463P -2601 EGFR S464L -2602 EGFR S464T -825 ARAF S490T -2610 EGFR S492C -453 EGFR S492R -1206 KIT S501_A502INSAY -1589 SMO S533N -1290 JAK3 S61C -1659 KIT S628N -2956 JAK1 S646F -980 KIT S692L -822 JAK1 S703I -3680 JAK1 S729C -891 EGFR S752_I759delSPKANKEI -3723 AR S759P -562 EGFR S768I -1443 EGFR S768N -145 DDR2 S768R -1182 EGFR S784F -2701 CBL S80N -3347 SPOP S80R -3750 ARHGAP35 S866F -262 ABCB1 S893T -3652 KDR S925F -3645 PIM1 S97N -4330 ALK T1151K -1493 ALK T1151M -743 MLH1 T117M -3417 TP53 T125R -3684 TP53 T125T -3558 PTEN T160I -3979 BRCA1 T1720A -2712 MTOR T1977K -3412 MTOR T1977R -540 FLT3 T227M -3782 TP53 T230S -1587 SMO T241M -3675 NOTCH1 T2512A -995 EGFR T263P -901 ATM T2666A -3629 BRCA2 T2722R -3407 PTEN T277A -3406 PTEN T277I -3403 PTEN T277R -2918 PRPS1 T303S -870 BTK T316A -2618 EGFR T415M -1546 KIT T417_D419DELTYDINSI -2620 KIT T417_D419delinsY -1285 CTNNB1 T41A -3503 ERCC2 T46S -2795 BRAF T488_P492del -974 KIT T574A -3445 BRAF T598I -2824 BRAF T599_V600insT -2387 CSF3R T618I -979 KIT T661I -1267 KIT T670I -861 EGFR T725M -3686 PTPRD T781A -1573 EGFR T785A -34 EGFR T790M -2331 ERBB2 T798I -1305 ERBB2 T798M -4321 NFE2L2 T80K -1463 EGFR T847I -1467 EGFR T854A -871 ERBB2 T862A -701 ERBB3 V104M -2624 TP53 V135A -1254 TP53 V143A -2991 KRAS V14I -3968 BRCA1 V1534M -2836 MAP2K1 V154I -3059 BCL2 V156D -1143 NOTCH1 V1577A -1144 NOTCH1 V1577E -3574 TP53 V157D -1092 TP53 V157F -1249 BRCA2 V159M -3554 PTEN V166I -3970 BRCA1 V1688del -4117 TP53 V173G -1086 TP53 V173L -4139 TP53 V173M -3998 BRCA1 V1804D -3595 TP53 V197E -4120 TP53 V197L -2805 MAP2K1 V211D -1251 BRCA2 V211I -1250 BRCA2 V211L -3507 ERCC2 V242F -2348 IL7R V253G -792 PTPRD V253I -4123 TP53 V272G -1035 TP53 V272L -3790 TP53 V274F -2751 TP53 V274S -1604 ABL1 V289I -2277 CRLF2 V2del -1576 SMO V321M -775 MSH6 V352I -2841 MAP2K2 V35M -2702 CBL V391I -1831 POLE V411L -2612 EGFR V441D -2613 EGFR V441F -2611 EGFR V441G -745 MLH1 V49A -728 MLH1 V534R -2938 PRPS1 V53A -3217 FGFR4 V550E -2399 FGFR3 V555L -2400 FGFR3 V555M -1543 KIT V555_I571DEL -957 KIT V555_P573DEL -956 KIT V555_Q556DEL -2695 KIT V555_V559DEL -969 KIT V559A -968 KIT V559D -966 KIT V559DEL -970 KIT V559G -967 KIT V559_V560DEL -971 KIT V560D -202 KIT V560DEL -972 KIT V560G -1550 KIT V560_L576DEL -247 PDGFRA V561A -941 PDGFRA V561D -2781 FGFR1 V561M -1551 KIT V569_L576DEL -1632 FLT3 V592_D593INSDFREY -3452 BRAF V599D -3446 BRAF V599E -3453 BRAF V599K -3454 BRAF V599R -11 BRAF V600D -12 BRAF V600E -1199 BRAF V600G -563 BRAF V600K -1404 BRAF V600L -1405 BRAF V600M -991 BRAF V600R -1658 BRAF V600_K601DELINSD -3241 BRAF V600_S605delinsDV -2825 BRAF V601E -2834 MAP2K1 V60E -64 JAK2 V617F -73 KIT V654A -3205 PDGFRA V658A -1289 JAK3 V722I -3230 RET V738A -1001 EGFR V742A -3721 AR V757A -3722 AR V757I -1578 EGFR V769A -736 EGFR V769_D770insASV -872 ERBB2 V773A -1311 ERBB2 V773L -1892 EGFR V774A -1894 EGFR V774M -1567 EGFR V774_C775insHV -44 ERBB2 V777L -2568 RET V804M -1897 EGFR V834I -45 ERBB2 V842I -1466 EGFR V851I -781 ERBB3 V855A -3668 PIK3CA V955G -3001 PIK3CA V955I -1521 CDKN2A W110* -3691 PTPRB W130R -1590 PTCH1 W170X -3978 BRCA1 W1718C -1555 BRCA1 W1815X -3995 BRCA1 W1837R -3627 BRCA2 W2626C -1563 SMO W281C -1583 SMO W281L -2945 FGFR2 W290C -3688 ABL2 W469C -2667 MPL W515L -837 SMO W535L -959 KIT W557G -958 KIT W557R -960 KIT W557T -962 KIT W557_E561del -961 KIT W557_K558del -1498 KIT W557_V559insC -1539 PDGFRA W559_R560DELWR -1292 JAK1 W690* -1591 PTCH1 W712X -1571 EGFR W731L -2703 CBL W802* -3250 VHL W88* -935 PIK3CA Y1021C -2913 MET Y1021H -3762 TP53 Y126D -3763 TP53 Y126S -3456 EP300 Y1414C -3500 ERCC2 Y14C -1645 PAPPA2 Y1520X -1087 TP53 Y163C -3769 TP53 Y163H -3800 TP53 Y163N -3506 ERCC2 Y209C -922 TP53 Y220C -3779 TP53 Y220H -1596 ABL1 Y232S -1068 TP53 Y234C -3781 TP53 Y234H -3770 TP53 Y236S -3501 ERCC2 Y24C -803 RUNX1 Y260* -3614 BRCA2 Y2660D -3609 BRCA2 Y2726C -3690 PTPRB Y309C -2934 PRPS1 Y311C -3405 PTEN Y336* -1605 ABL1 Y342H -2377 RHEB Y35N -2638 CBL Y371H -2404 FGFR3 Y373C -3356 FGFR2 Y375C -3065 FGFR2 Y376C -1611 ABL1 Y393C -3689 ABL2 Y399C -3239 KIT Y503A -946 KIT Y503_F504insAY -1669 LYN Y508F -48 ESR1 Y537C -49 ESR1 Y537N -50 ESR1 Y537S -952 KIT Y553D -2737 KIT Y553N -953 KIT Y553_K558DEL -1542 KIT Y553_W557DELYEVQW -1548 KIT Y570_L576DEL -3233 FLT3 Y589D -1630 FLT3 Y591_V592INSVDFREYE -3607 EZH2 Y646C -2989 EZH2 Y646F -3364 EZH2 Y646H -4090 EZH2 Y646N -2666 EZH2 Y646S -3514 FGFR3 Y647C -2986 STAT5B Y665F -3499 ERCC2 Y72C -3606 EZH2 Y731D -3724 AR Y763C -1665 EGFR Y764_V765insHH -1575 EGFR Y801H -3228 RET Y806C -3229 RET Y806N -989 KIT Y823D -3665 ERBB2 Y835F -3070 FLT3 Y842C -3234 FLT3 Y842H -3535 PTEN Y88C -1642 POLD1 Y956N -3045 VHL p.F76del -3310 HDAC9 p.L33R +variant_id gene_name variant_name variant_accepted +748 MLH1 *757L True +467 KDR A1065T True +807 RUNX1 A107P True +3683 JAK1 A1086S False +3030 BCL2 A113G False +3342 KRAS A11_G12insGA True +3544 PTEN A121E False +3528 PTEN A126D False +3565 PTEN A126S False +4131 TP53 A138K False +3416 TP53 A138V False +905 KRAS A146P True +906 KRAS A146T True +322 KRAS A146V True +4134 TP53 A161D False +4116 TP53 A161G False +1114 TP53 A161T True +4136 TP53 A161V False +3976 BRCA1 A1708E False +3994 BRCA1 A1789T False +2929 PRPS1 A190T True +2928 PRPS1 A190V False +610 MTOR A2034V True +3147 NTRK2 A203T False +1169 ATM A2062V True +1522 CDKN2A A20P False +258 MTHFR A222V True +1171 ATM A2274T False +1217 ERBB3 A232V False +3708 AR A234T False +1050 TP53 A276V True +996 EGFR A289V True +4126 TP53 A347G False +4023 FGFR3 A391E True +752 MLH1 A424T True +1588 SMO A459V False +4248 PTPN11 A461T False +1558 KIT A502_Y503insAY True +2826 BRAF A598V True +1646 POLE4 A59E False +760 MLH1 A681V True +2255 EGFR A702S False +1198 BRAF A728V True +3718 AR A748V False +2332 EGFR A750T False +1515 EGFR A763_Y764insFQEA True +3725 AR A765T False +2658 ERBB2 A775_G776insYVMA False +3591 RIT1 A77P False +3592 RIT1 A77S False +990 KIT A829P True +4127 TP53 A83E False +1474 EGFR A859T False +1187 EGFR A864T True +3751 ARHGAP35 A865_L870delinsV False +4129 TP53 A86E False +4128 TP53 A86T False +2939 PRPS1 A87T True +153 FOXP1 AMPLIFICATION True +154 REL AMPLIFICATION True +204 NCOA3 AMPLIFICATION True +224 TTF1 AMPLIFICATION True +2655 MYB AMPLIFICATION True +842 BRAF APC False +2758 BRCA1 ATM False +2844 MITF Amplificatioin False +18 CCND1 Amplification True +180 AURKA Amplification True +187 CCNE1 Amplification True +190 EGFR Amplification True +212 PIK3CA Amplification True +219 TERT Amplification True +251 BIRC7 Amplification True +267 FGFR1 Amplification True +270 MET Amplification True +298 MYCN Amplification True +306 ERBB2 Amplification True +321 MAPK1 Amplification True +330 NOTCH1 Amplification True +358 RSF1 Amplification True +371 TOP1 Amplification True +379 TYMS Amplification True +407 ABCC3 Amplification True +409 ASNS Amplification True +553 CDK4 Amplification True +573 RICTOR Amplification True +586 KIT Amplification True +591 RAF1 Amplification True +592 KRAS Amplification True +629 FGFR2 Amplification True +630 FGF3 Amplification True +635 AKT2 Amplification True +716 PDGFRA Amplification True +1261 MDM2 Amplification False +1268 MDM4 Amplification False +1269 BRAF Amplification True +1276 SMO Amplification False +1280 NTRK1 Amplification True +1281 NTRK3 Amplification True +1684 PSMD4 Amplification False +1685 CDK6 Amplification False +2205 FLT4 Amplification False +2240 TLK2 Amplification True +2397 CRKL Amplification False +2550 NRAS Amplification False +2564 MYC Amplification False +2598 IRS2 Amplification False +2619 FLT3 Amplification False +2637 KDR Amplification False +2746 CCND2 Amplification False +2747 CCND3 Amplification False +2906 FGFR3 Amplification False +2907 FGFR4 Amplification False +3687 KMT2A Amplification False +4301 ALK Amplification True +4331 ALK C1156Y True +627 MAP2K1 C121S True +4113 TP53 C124R True +3547 PTEN C124S False +2840 MAP2K2 C125S False +198 FOXL2 C134W True +2719 TP53 C135F False +924 TP53 C135W True +1111 TP53 C135Y False +3382 PTEN C136R True +1094 TP53 C141W False +2713 MTOR C1483F False +3413 MTOR C1483R False +543 MTOR C1483Y True +3389 TP53 C176F False +4118 TP53 C176S False +1116 TP53 C176Y False +248 TERT C228T True +3393 TP53 C238F False +2648 TP53 C238Y True +1062 TP53 C242F False +1063 TP53 C242S False +1064 TP53 C242Y True +1172 ATM C2488Y True +4004 TERT C250T False +4124 TP53 C275F False +917 TP53 C275Y False +4145 TP53 C277Y False +1647 POLD1 C284Y True +3357 FGFR2 C342R False +3358 FGFR2 C342Y False +931 PIK3CA C420R True +1586 SMO C469Y False +1639 ABL1 C475V True +4017 BTK C481R False +168 BTK C481S True +4016 BTK C481Y False +3605 EZH2 C576W False +3337 PIK3CA C604R False +1260 RET C609Y True +1700 RET C634R False +112 RET C634W True +2936 PRPS1 C77S True +3003 EGFR C797G False +415 EGFR C797S True +1574 EGFR C797Y True +1264 KIT C809G True +3756 BAP1 C91S False +2789 PIK3CA C971R False +1660 MET D1010H False +1651 MET D1010N False +1649 MET D1010Y False +2260 MET D1028N False +3062 BCL2 D103E False +3061 BCL2 D103V False +3058 BCL2 D103Y False +3380 CDKN2A D108H False +3288 CDKN2A D108N False +2791 CDKN2A D108Y False +4015 PLCG2 D1140E False +649 MET D1228N True +798 MET D1228V True +2935 PRPS1 D139G True +3349 SPOP D140G False +3553 PTEN D162G False +135 NOTCH1 D1642H True +1168 ATM D1682H True +2196 DICER1 D1709E True +2195 DICER1 D1709G True +2051 DICER1 D1709N True +3802 TSC2 D1734E False +3980 BRCA1 D1739G False +3981 BRCA1 D1739V False +2197 DICER1 D1810H False +2199 DICER1 D1810N False +2198 DICER1 D1810Y False +2920 PRPS1 D183E True +2933 PRPS1 D183H False +1160 ATM D1930V True +634 STK11 D194E True +806 RUNX1 D198Y True +1641 ROS1 D2033N False +3706 AR D221H False +3401 TP53 D259V True +3610 BRCA2 D2611G False +3625 BRCA2 D2723A False +3631 BRCA2 D2723G False +3639 BRCA2 D2723H False +1044 TP53 D281E True +1045 TP53 D281G False +3792 TP53 D281N True +4146 TP53 D281Y False +3495 ERBB3 D297Y False +650 CASP8 D302H True +3611 BRCA2 D3073G False +661 BRCA2 D3095E True +4222 AKT1 D323G False +3256 CTNNB1 D32Y False +1653 PIK3CA D350G True +3338 PIK3CA D350N False +2852 SMAD4 D351H False +2995 TP53BP1 D353E False +1606 ABL1 D363Y False +240 NT5C2 D407A True +855 KIT D419del False +2468 PRKCB D427N True +1560 SMO D473G False +299 SMO D473H True +1561 SMO D473Y False +3959 SMAD4 D493H False +3713 AR D528G False +2858 SMAD4 D537Y False +47 ESR1 D538G True +1399 PIK3CA D549N False +1547 KIT D579_H580insIDPTQLPYD False +977 KIT D579del True +4341 FLT3 D593del False +579 BRAF D594A True +2799 BRAF D594E False +611 BRAF D594G True +2832 BRAF D594H False +2833 NECTIN4 D594H False +2398 BRAF D594K True +1107 BRAF D594N False +580 BRAF D594V True +3698 FGFR3 D617G False +2573 PTPN11 D61Y False +468 KDR D717V True +1013 EGFR D761N False +712 EGFR D761Y True +35 ERBB2 D769H True +36 ERBB2 D769Y True +1512 EGFR D770_N771insG True +1514 EGFR D770_N771insGL True +1566 EGFR D770_N771insGT True +1569 EGFR D770_N771insNPG True +1445 EGFR D770_N771insSVD True +2214 EGFR D770delinsGY True +1559 KIT D816E True +1402 KIT D816G False +983 KIT D816H True +65 KIT D816V True +984 KIT D816Y False +1265 KIT D820A True +2736 KIT D820E False +1266 KIT D820G True +986 KIT D820Y True +1397 FLT3 D835E False +4340 FLT3 D835G False +612 FLT3 D835H True +3075 FLT3 D835I True +4339 FLT3 D835N False +1302 FLT3 D835V True +3011 FLT3 D835Y True +3167 FLT3 D839A False +3160 FLT3 D839G False +3169 FLT3 D839H False +3168 FLT3 D839N False +98 PDGFRA D842I True +99 PDGFRA D842V True +100 PDGFRA D842Y True +102 PDGFRA D842_I843delinsVM True +1518 PDGFRA D842_M844del False +3374 CDKN2A D84G False +3334 CDKN2A D84H False +3285 CDKN2A D84N False +3375 CDKN2A D84V False +3333 CDKN2A D84Y False +2574 SETBP1 D868N False +3538 PTEN D92A False +3539 PTEN D92E False +3540 PTEN D92G False +3541 PTEN D92H False +3542 PTEN D92V False +3293 PIK3CA D939G False +2414 MAP2K1 E102_I103delEI False +3290 PIK3CB E1051K False +3464 EGFR E114K False +566 MAP2K7 E116K True +4329 ALK E1210K False +2050 DICER1 E1705K True +544 MTOR E1799K True +4 AKT1 E17K True +1227 AKT3 E17K True +3585 TP53 E180K False +2200 DICER1 E1813G False +2201 DICER1 E1813K False +2052 DICER1 E1813Q True +3707 AR E198G False +1626 MAP2K1 E203K False +1162 ATM E2187* True +3780 TP53 E224K True +1601 ABL1 E258D False +3772 TP53 E258K True +1552 MAPK1 E278E False +1603 ABL1 E281K False +1043 TP53 E285K False +3462 TP53 E285V False +915 TP53 E286K True +3621 BRCA2 E3002K False +3496 ERBB4 E317K False +320 MAPK1 E322K True +2853 SMAD4 E330A False +3521 SMAD4 E330K False +1648 POLD1 E374K True +1674 ESR1 E380Q False +691 ERRFI1 E384* True +3336 PIK3CA E39K False +4306 KLF5 E419K True +4307 KLF5 E419Q True +1619 ABL1 E450A False +1496 ABL1 E450G False +1617 ABL1 E450K False +1620 ABL1 E453V False +1621 ABL1 E459G False +3692 FGFR3 E466K False +3343 SPOP E47K False +3682 JAK1 E483D False +773 MSH2 E483G True +3345 SPOP E50K False +2282 DROSHA E518K False +103 PIK3CA E542K True +933 PIK3CA E542Q False +882 PIK3CA E545A False +934 PIK3CA E545D False +883 PIK3CA E545G True +104 PIK3CA E545K True +881 PIK3CA E545Q True +884 PIK3CA E545V False +2709 PIK3CA E545X False +955 KIT E554D False +3449 BRAF E585K False +1631 FLT3 E588_Y589INSKYFYVDFRE False +4106 TP53 E68G True +1412 EGFR E709K False +1413 EGFR E709Q False +1572 EGFR E734Q True +724 EGFR E746G True +1431 EGFR E746K False +1005 EGFR E746V False +1002 EGFR E746_A750del True +1009 EGFR E746_S752delinsD False +4280 EGFR E746_S752insV False +1004 EGFR E746_T751delinsA False +1214 EGFR E746_T751delinsVA False +3754 BACH2 E788K False +3504 ERCC2 E79D False +4320 NFE2L2 E79K False +3960 NFE2L2 E79Q False +1500 PIK3CA E81K True +3430 NFE2L2 E82D False +4107 SOS1 E846K False +1482 EGFR E868G True +3505 ERCC2 E86Q False +1390 EGFR E884K False +3332 CDKN2A E88K False +3537 PTEN E91A False +3484 FN1 EDB False +4005 EWSR1 EWSR1-ERG False +1158 ATM F1025L True +3082 BCL2 F104I True +3028 BCL2 F104L False +3027 BCL2 F104S False +1492 ALK F1174C False +8 ALK F1174L True +1505 ALK F1174V False +549 ALK F1245C True +1295 ALK F1245V True +1174 NOTCH1 F1592C False +1127 NOTCH1 F1592S False +2714 MTOR F1888L False +470 MTOR F2108L True +457 FCGR3A F212V True +2285 CRLF2 F232C False +2802 BRAF F247L False +1053 TP53 F270S True +1164 ATM F2732V True +2063 STK11 F354L False +3516 FGFR3 F384L False +2616 EGFR F404I False +2617 EGFR F404V False +1538 ABL1 F486Y False +3240 KIT F504A False +1270 MAP2K1 F53L False +2839 MAP2K1 F53Y False +4223 AKT1 F55Y False +1398 MAP2K2 F57C False +3450 BRAF F594L False +1121 BRAF F595L False +3468 NTRK3 F617L True +3071 FLT3 F691L True +2587 JAK2 F694L True +3593 RIT1 F82L False +1881 ATM F858L False +175 AR F877L True +3536 PTEN F90L False +3667 PIK3CA F930S True +3437 PIK3CA G1007R False +3026 BCL2 G101A False +2960 BCL2 G101V True +1501 PIK3CA G1049A False +940 PIK3CA G1049R True +939 PIK3CA G1049S False +3341 KRAS G10_A11insG True +1673 ERBB4 G1109C False +2798 ALK G1128A False +171 ALK G1202R True +4334 ALK G1269S False +3549 PTEN G127E False +2835 MAP2K1 G128V False +3563 PTEN G129E False +3562 PTEN G129R False +3561 PTEN G129V False +148 KRAS G12A True +78 KRAS G12C True +897 NRAS G12C True +79 KRAS G12D True +878 NRAS G12D True +1387 HRAS G12D False +530 KRAS G12R True +898 NRAS G12S False +913 KRAS G12S True +425 KRAS G12V True +1175 NRAS G12V False +1394 HRAS G12V False +2873 MAP2K2 G132D False +2874 MAP2K2 G132S False +895 NRAS G13C False +911 KRAS G13C False +81 KRAS G13D True +93 NRAS G13D True +274 HRAS G13D True +896 NRAS G13R True +1393 HRAS G13R False +1395 KRAS G13R False +1396 KRAS G13S False +1317 NRAS G13V False +1489 HRAS G13V False +1517 KRAS G13V True +2676 EP300 G1506V False +3419 TP53 G154S False +3559 PTEN G165E False +3560 PTEN G165V False +3973 BRCA1 G1706A False +3972 BRCA1 G1706E False +2922 PRPS1 G174E False +3993 BRCA1 G1770V False +3793 TP53 G177E False +1271 ROS1 G2032R True +3152 GNA11 G209P False +3153 GNAQ G209P False +1060 TP53 G244S True +3397 TP53 G244V False +1036 TP53 G245D True +879 TP53 G245S True +3331 LZTR1 G248R False +2279 CRLF2 G24R False +1599 ABL1 G250V False +3523 SMAD4 G252* False +141 DDR2 G253C True +3615 BRCA2 G2585R False +3628 BRCA2 G2609D False +4144 TP53 G262C False +3773 TP53 G262D True +3774 TP53 G266E True +1055 TP53 G266R True +4122 TP53 G266V True +2838 MAP2K1 G276W False +3613 BRCA2 G2793E False +3616 BRCA2 G2793R False +3791 TP53 G279E True +703 ERBB3 G284R True +3623 BRCA2 G3076E False +3620 BRCA2 G3076V False +38 ERBB2 G309A True +3457 NFE2L2 G31A True +2283 ACVR1 G328E True +1686 ACVR1 G328V True +2280 ACVR1 G328W True +1657 ABL1 G340L True +3492 CTNNB1 G34E False +3253 CTNNB1 G34R False +3379 H3-3A G34R True +2576 CTNNB1 G34V False +3378 H3-3A G34V False +2421 H3-3A G34W True +3662 ACVR1 G356D True +2788 PIK3CA G363A False +3286 PTEN G36R False +2406 FGFR3 G370C True +3381 PIK3R2 G373R True +2405 FGFR3 G380R True +3522 SMAD4 G386D False +3520 SMAD4 G419V False +3432 BRAF G463E True +3442 BRAF G463V False +1106 BRAF G464V True +3443 BRAF G465A False +2603 EGFR G465E False +443 EGFR G465R True +2604 EGFR G465V False +1196 BRAF G466A False +2792 BRAF G466E False +2222 BRAF G466V True +3441 BRAF G468A False +992 BRAF G469A True +993 BRAF G469E True +840 BRAF G469R False +3425 BRAF G469S False +841 BRAF G469V False +2221 BRAF G496A True +1584 SMO G497W False +142 DDR2 G505S True +1624 ABL1 G514S False +4007 DDX41 G530D False +1678 FBXW7 G579W False +2823 BRAF G593D False +2690 NTRK1 G595R False +694 BRAF G596C True +1627 BRAF G596R True +1650 BRAF G596V False +997 EGFR G598V True +2223 BRAF G606E True +2855 NTRK3 G623E False +2691 NTRK3 G623R False +3215 FGFR4 G636C False +3699 FGFR3 G637W False +3488 EGFR G63R False +759 MLH1 G65D True +757 MLH1 G67R True +1692 FGFR3 G691R False +4030 FGFR3 G697C False +2817 FLT3 G697R False +3212 FLT3 G697S False +999 EGFR G719A True +1420 EGFR G719D True +134 EGFR G719S True +317 EGFR G724S True +3346 SPOP G75R False +144 DDR2 G774V True +816 ERBB2 G776L True +3649 KDR G800D False +3650 KDR G800R False +4298 FGFR3 G802_X807del False +3226 RET G810C False +1016 EGFR G810S False +3227 RET G810S False +3651 KDR G843D False +772 HOXB13 G84E True +865 PDGFRA G853D True +351 SETBP1 G870S True +1151 PIK3CA H1047L True +107 PIK3CA H1047R True +2710 PIK3CA H1047X True +938 PIK3CA H1047Y False +2957 MET H1112L False +4112 TP53 H115Y True +3546 PTEN H123D False +2872 MAP2K2 H123Q False +3803 SMAD4 H132Y False +456 FCGR2A H167R True +3963 BRCA1 H1686Q False +3962 BRCA1 H1686R False +4138 TP53 H168Q False +4137 TP53 H168R False +3783 TP53 H168Y True +4103 TP53 H178P True +1082 TP53 H179R True +1083 TP53 H179Y True +3996 BRCA1 H1862L False +4119 TP53 H193L False +283 MTOR H1968Y True +1595 ABL1 H201L False +4335 TP53 H214R False +1446 EGFR H773_V774insH True +1513 EGFR H773_V774insNPH True +864 PDGFRA H845Y True +874 ERBB2 H878Y True +3529 PTEN H93D False +3530 PTEN H93Q False +3340 PTEN H93R False +3531 PTEN H93Y False +4323 CBL H94Y False +259 GSTP1 I105V True +263 ABCB1 I1145I True +4387 ALK I1171N True +3371 ALK I1171T True +3545 PTEN I122S False +787 CHEK2 I157T True +3768 TP53 I162F True +3555 PTEN I168F False +458 FCGR2B I232T True +1598 ABL1 I242T False +3758 U2AF1 I24T False +3630 BRCA2 I2627F False +3255 CTNNB1 I35K False +1235 PIK3CA I391M True +1585 SMO I408V False +1615 ABL1 I418S False +1614 ABL1 I418V False +2599 EGFR I462K False +2600 EGFR I462R False +3448 BRAF I462S False +2608 EGFR I491K False +2609 EGFR I491R False +4022 FGFR3 I538F False +143 DDR2 I638F True +2677 ERBB2 I654V False +758 MLH1 I68S True +2937 PRPS1 I72V True +2259 EGFR I744_K745insKIPVAI False +3664 ERBB2 I767M False +3572 FLT3 I836S False +3573 FLT3 I836T False +101 PDGFRA I843DEL True +755 MSH6 I972F False +1234 PIK3CA K111N True +1120 KRAS K117N False +3584 TP53 K120E False +3596 TP53 K120R False +3548 PTEN K125E False +3564 PTEN K128N False +3764 TP53 K139E True +770 MSH2 K172* True +2921 PRPS1 K176N True +2815 H3C2 K27M True +3939 H3-3A K27M False +3944 H3C14 K27M False +3594 H3-3A K27R False +2416 H3-3A K28M True +1155 ATM K293* True +3402 TP53 K305M False +4147 TP53 K305N False +2871 BRCA2 K3326* True +239 NT5C2 K359Q True +3745 CTCF K365T True +2420 H3-3B K36M True +3440 KLF4 K409Q False +2775 BRAF K439Q False +2776 BRAF K439T False +2605 EGFR K467N False +455 EGFR K467T True +581 BRAF K483M True +2622 KIT K484_G487DEL True +2607 EGFR K489E False +2606 EGFR K489Q False +949 KIT K550_K558del True +2696 KIT K550_K559DEL True +948 KIT K550_W557del True +963 KIT K558Q False +965 KIT K558R False +964 KIT K558_V559del True +1272 MAP2K1 K57N True +824 MAP2K1 K57T False +3455 BRAF K600E False +584 BRAF K601E True +733 MLH1 K618DEL True +978 KIT K642E True +2592 KIT K642R False +4024 FGFR3 K650D True +1400 FGFR3 K650E True +4025 FGFR3 K650L True +4013 FGFR3 K650M True +3695 FGFR3 K650N True +4019 FGFR3 K650Q True +4021 FGFR3 K650T False +2947 FGFR2 K660E False +3166 FLT3 K663Q False +114 SF3B1 K666N True +565 SF3B1 K700E True +3490 EGFR K708R False +3714 AR K720E False +1638 EGFR K745_E749delKELRE False +264 ERCC2 K751Q True +1312 ERBB2 K753E False +4319 SMARCA2 K755R True +1314 ERBB2 K755S False +723 EGFR K757R True +1895 EGFR K806E True +802 RUNX1 K83E True +3666 PIK3CA K944N True +3669 PIK3CA K966E True +4111 TP53 L111R True +1554 ALK L1152P False +307 ALK L1152R True +4332 ALK L1152V False +4324 ALK L1196M True +1553 ALK L1196Q False +1275 ALK L1198F True +1556 ALK L1198P False +3031 BCL2 L119V False +3032 MYOD1 L122R True +2168 RAD50 L1237F True +3660 CYSLTR2 L129Q False +1099 TP53 L130V False +3078 VHL L135* False +4114 TP53 L139N True +4273 BRCA1 L1407P False +1032 NOTCH1 L1574P False +1145 NOTCH1 L1574Q False +1142 NOTCH1 L1585R False +1031 NOTCH1 L1600P False +1140 NOTCH1 L1600Q False +1034 NOTCH1 L1678P False +3335 CDKN2A L16P False +2675 MSH2 L173P False +3982 BRCA1 L1764P False +2919 PRPS1 L191F True +1078 TP53 L194P False +3392 TP53 L194R False +2716 MTOR L2230V False +140 DDR2 L239R True +1163 ATM L2427P True +3414 MTOR L2427Q False +3755 BACH2 L24P False +3624 BRCA2 L2510P False +3771 TP53 L252F True +3801 TP53 L257P True +3640 BRCA2 L2647P False +3642 BRCA2 L2653P False +3612 BRCA2 L2654P False +424 MYD88 L265P True +3638 BRCA2 L2688P False +1602 ABL1 L273M False +3617 BRCA2 L2792P False +1506 ABL1 L298V True +3643 PIM1 L2V True +4125 TP53 L305M False +3775 TP53 L308M True +4322 NFE2L2 L30F False +3776 TP53 L323P True +3580 TP53 L330P True +3581 TP53 L330R True +3583 TP53 L344P True +1570 SMO L412F True +4313 POLE L424I False +4158 POLE L424V False +2842 MAP2K2 L46F False +2804 BRAF L485F False +658 BRAF L505H True +2793 BRAF L525R False +1191 AKT1 L52R False +46 ESR1 L536Q True +1675 ESR1 L536R False +72 KIT L576P True +1540 PDGFRA L579M False +3705 AR L57Q False +3451 BRAF L596V False +583 BRAF L597Q True +288 BRAF L597R True +582 BRAF L597S True +585 BRAF L597V True +2401 FGFR3 L608V False +1309 ERBB2 L638S False +139 DDR2 L63V True +2999 EGFR L718Q False +3000 EGFR L718V False +3717 AR L744F False +1891 EGFR L747P True +1012 EGFR L747_P753delinsS True +890 EGFR L747_S752del False +1580 EGFR L747_S752delinsQ True +1007 EGFR L747_T751delLREAT False +1010 EGFR L747_T751delinsP False +1008 EGFR L747_T751delinsQ False +1313 ERBB2 L753E False +1304 ERBB2 L755P False +39 ERBB2 L755S True +40 ERBB2 L755W True +37 ERBB2 L755_T759del True +1308 ERBB2 L768S False +3004 EGFR L792H False +1457 EGFR L838P True +1018 EGFR L838V True +3648 KDR L840F False +1473 EGFR L858Q False +33 EGFR L858R True +1020 EGFR L861Q True +1477 EGFR L861R True +496 ERBB2 L866M True +2330 ERBB2 L869R False +3670 PIK3CA L938* True +937 PIK3CA M1043I False +2940 PRPS1 M115T True +3301 SPOP M117I False +3280 SPOP M117V False +3372 MET M1250T False +3966 BRCA1 M1628T False +3965 BRCA1 M1652I False +1248 BRCA2 M1I True +747 MLH1 M1L True +1247 BRCA2 M1R True +609 MTOR M2327I True +1066 TP53 M237I True +1597 ABL1 M237V False +3396 TP53 M243T False +3398 TP53 M246A False +3789 TP53 M246L True +4105 TP53 M246R False +3399 TP53 M246T False +1610 ABL1 M388L False +1622 ABL1 M472I False +769 MLH1 M490T True +1288 JAK3 M511I False +3515 FGFR3 M528I False +201 KIT M541L True +951 KIT M552_W557DEL False +3165 FLT3 M664I False +2745 EGFR M766Q False +1664 EGFR M766_A767insAI True +2213 EGFR M766_A767insASV True +818 ERBB2 M774DELINSWLV True +3588 RIT1 M90I False +113 RET M918T True +3435 MYOD1 MYOD1 L122R False +3438 PIK3CA N1044K False +2924 PRPS1 N114D False +2843 MAP2K2 N126D False +778 SLCO1B1 N130D True +2923 PRPS1 N144S True +3281 ERCC2 N238S False +3394 TP53 N239D False +3787 TP53 N239S True +3395 TP53 N239T False +244 ATM N2875H True +3641 BRCA2 N3124I False +930 PIK3CA N345K True +3679 ETV6 N385_R418del False +3681 JAK1 N451S False +2794 BRAF N486_P490del True +3237 KIT N505I False +3238 KIT N505R False +3216 FGFR4 N535K False +4028 FGFR3 N540D False +3693 FGFR3 N540K False +3694 FGFR3 N540S False +515 FGFR1 N546K True +2780 FGFR2 N549H False +545 FGFR2 N550K True +751 MLH1 N551T True +1652 PIK3R2 N561D True +4014 PLCG2 N571S False +3444 BRAF N580S False +1186 BRAF N581S True +3053 FLT3 N676K False +3719 AR N756D False +3304 EGFR N771_P772insL True +1662 EGFR N771delinsVH False +987 KIT N822H True +1263 KIT N822K True +1188 EGFR N826S True +1896 EGFR N826Y True +3201 FLT3 N841I False +3213 FLT3 N841K False +3308 FLT3 N841T False +1899 EGFR N842S True +873 ERBB2 N857S True +3532 PTEN N94I False +2837 MAP2K1 P124L False +82 MAP2K1 P124S True +734 MLH1 P138T True +761 MSH6 P138T True +1644 PXDNL P1460T False +3418 TP53 P151A False +1093 TP53 P151H True +3765 TP53 P151S True +3767 TP53 P152L True +3794 TP53 P152T True +3556 PTEN P169H False +3785 TP53 P177F True +3786 TP53 P177H True +3784 TP53 P177S True +3299 PPP2R1A P179R True +3997 BRCA1 P1812R False +402 NQO1 P187S True +4141 TP53 P190H False +1080 TP53 P190L False +813 ETV6 P214L False +3778 TP53 P219H True +284 MTOR P2213S True +3318 TP53 P250L True +2905 FGFR2 P253R True +1218 ERBB3 P262H False +3005 TP53 P278A False +1049 TP53 P278S True +4315 POLE P286H False +1830 POLE P286R True +3570 CCND1 P287S False +3571 CCND1 P287T False +367 RAC1 P29S True +3711 AR P340L False +3266 KRAS P34R False +3289 CTCF P378L False +3602 ATXN7 P40Q False +1291 JAK1 P429S False +3603 ATXN7 P42_P43insP False +1616 ABL1 P441L False +3458 PIK3CA P447_L455del False +294 PIK3CA P471L True +504 TP53 P47S True +1623 ABL1 P480L False +3377 CDKN2A P48L False +2796 BRAF P490_Q494del False +3712 AR P504L False +1582 EGFR P546S False +950 KIT P551L False +1497 KIT P551_E554delPMYE True +976 KIT P577L False +862 PDGFRA P577S True +2738 KIT P577_D579DEL False +3489 EGFR P596L False +2180 TSPYL1 P62S False +2990 BRCA2 P655R False +531 TP53 P72R True +2224 BRAF P731T True +460 EGFR P753S True +2217 EGFR P772_H773insH False +1667 EGFR P772_H773insYNP True +1668 EGFR P772_V774insPHV True +2697 PAX5 P80R False +3644 PIM1 P81S True +3384 CDKN2A P81T False +1465 EGFR P848L False +480 DNMT3A P904L False +3348 SPOP P94A False +4304 SRSF2 P95H True +3533 PTEN P95L False +4303 SRSF2 P95L True +3534 PTEN P96Q False +3761 TP53 P98L True +3760 TP53 P98S True +3302 TYK2 Pro1104Ala False +1159 ATM Q1084* False +469 TSC2 Q1178* True +260 ABCG2 Q141K True +3777 TP53 Q144P True +4132 TP53 Q144Q False +1246 BRCA1 Q1467* True +753 MLH1 Q149* True +4135 TP53 Q167R False +1654 NRAS Q179X True +1593 PTCH1 Q17X False +604 GNAQ Q209P True +479 KRAS Q22* True +1520 MTOR Q2223K False +1643 SCN8A Q225X False +2700 CBL Q294E False +3601 ATXN7 Q30R False +261 XRCC1 Q399R True +3600 ATXN7 Q39P False +3590 RIT1 Q40L False +1510 ARID1A Q456* True +1564 SMO Q477E False +614 JAK1 Q503* True +3663 BRAF Q524L False +886 PIK3CA Q546E False +885 PIK3CA Q546K True +887 PIK3CA Q546P False +888 PIK3CA Q546R False +1541 KIT Q556_I571DEL False +83 MAP2K1 Q56P True +655 MAP2K1 Q56_V60del True +975 KIT Q575L False +1104 KRAS Q61E False +893 NRAS Q61H True +907 KRAS Q61H True +427 NRAS Q61K True +910 KRAS Q61K True +1392 HRAS Q61K False +95 NRAS Q61L True +854 HRAS Q61L False +908 KRAS Q61L True +1103 KRAS Q61P False +96 NRAS Q61R True +909 KRAS Q61R True +1391 HRAS Q61R False +981 KIT Q694K False +3576 ERBB2 Q709L False +3433 RRAS2 Q72L False +1592 PTCH1 Q787X False +3726 AR Q798E False +169 AKT1 Q79K True +3589 RIT1 Q79L False +1157 ATM Q984E False +4000 RAF1 QKI-RAF1 True +741 MLH1 R100* True +2774 MET R1004G True +3653 KDR R1022Q False +1594 PIK3CA R1023Q False +3350 KDR R1032Q True +702 ERBB3 R103G True +714 TSC1 R1062W True +994 EGFR R108K True +3282 TP53 R110L False +4318 SMARCA2 R1159Q True +1661 ALK R1192P False +3498 ERBB3 R1202W False +2645 KDM6A R1213* False +3300 SPOP R121Q False +776 MSH6 R1242C True +767 MSH6 R1242H True +9 ALK R1275Q True +3292 NF1 R1276Q False +3060 BCL2 R129L False +636 PTEN R130* True +1037 PTEN R130G False +899 PTEN R130Q False +59 IDH1 R132C True +927 IDH1 R132G False +420 IDH1 R132H True +880 IDH1 R132L False +928 IDH1 R132S False +4102 TP53 R156H True +3795 TP53 R156P True +1170 ATM R1575H False +3967 BRCA1 R1589P False +4133 TP53 R158C False +4115 TP53 R158G True +1695 TP53 R158H True +1699 TP53 R158L True +3543 PTEN R15K False +1628 NF1 R163X False +1207 KRAS R164Q True +814 DDX41 R164W True +3470 EGFR R165Q False +3971 BRCA1 R1699W False +2364 PREX2 R172I True +63 IDH2 R172K True +838 PTEN R173C True +3420 TP53 R174K False +1085 TP53 R174W False +116 TP53 R175H True +3796 TP53 R181C True +3797 TP53 R181G True +3798 TP53 R181H True +4140 TP53 R181L False +3390 TP53 R181P True +471 RAD51D R186* True +249 XRCC1 R194W True +4142 TP53 R196Q False +826 GNAS R201C True +1319 GNAS R201H True +4305 CIC R201W False +2857 ROS1 R2033N False +1161 ATM R2034P False +3661 ACVR1 R206H True +3575 PMS2 R20Q False +2711 TP53 R213* False +1109 TP53 R213P True +4121 TP53 R213Q False +1683 ALK R214H False +3439 MTOR R2152C False +3431 CIC R215W False +3344 EGFR R222C True +754 MLH1 R226* True +136 NOTCH1 R2327W True +110 PTEN R233* True +1252 BRCA2 R2336P True +2896 NT5C2 R238W True +1156 ATM R2459C False +2403 FGFR3 R248C True +3069 NTRK3 R248C False +920 TP53 R248L False +117 TP53 R248Q True +118 TP53 R248W True +3400 TP53 R249G False +1696 TP53 R249S True +556 CDK4 R24C True +3961 EGFR R252C False +2275 ACVR1 R258G False +3618 BRCA2 R2659G False +749 MLH1 R265G True +3421 TP53 R267Q False +121 TP53 R273C True +122 TP53 R273H True +918 TP53 R273L True +2753 PRKN R275W False +3619 BRCA2 R2784Q False +3626 BRCA2 R2784W False +1697 TP53 R280K True +1698 TP53 R280T True +1108 TP53 R282L True +916 TP53 R282W True +3799 TP53 R283H True +3422 TP53 R283P False +3608 BRCA2 R2842C False +903 ATM R3008C True +4148 TP53 R306E False +768 PMS2 R315* True +3423 TP53 R337C False +3424 TP53 R337H False +1112 TP53 R337L False +3582 TP53 R337P True +4149 TP53 R337S False +3579 TP53 R342P True +1656 ABL1 R351W True +2276 AMER1 R358X False +2851 SMAD4 R361C True +238 NT5C2 R367Q True +812 ETV6 R369Q False +3757 SMAD3 R373H False +3339 CTCF R377H False +727 MSH2 R383* True +1680 RAF1 R391W True +811 ETV6 R399C False +3463 PALB2 R414X False +3678 ETV6 R418G False +454 EGFR R451C True +3144 NTRK2 R458G False +3447 BRAF R461I False +3671 FBXW7 R465C False +2647 FBXW7 R465H False +3672 FBXW7 R479Q False +3519 SMAD4 R496H False +1503 FBXW7 R505C False +1504 FBXW7 R505H False +3673 FBXW7 R505L False +2803 BRAF R558Q False +1679 FBXW7 R658Q False +3696 FGFR3 R669G False +3697 FGFR3 R669Q False +42 ERBB2 R678Q True +2829 JAK2 R683G False +3604 EZH2 R690C False +2333 EGFR R705K True +3716 AR R726L False +3485 DNMT3A R736H False +1181 EGFR R776C True +1017 EGFR R831H True +2741 EGFR R832L False +863 PDGFRA R841K True +2782 TEK R849W False +3376 CDKN2A R87P False +1125 DNMT3A R882H False +1124 DNMT3A R882P False +929 PIK3CA R88Q True +43 ERBB2 R896C True +3434 PIK3CA R93Q False +1178 PIK3CA R93W True +502 KDR R961W True +2790 PIK3CA R975S False +3685 PTPRD R995C False +3429 ARHGAP35 R997* False +2925 PRPS1 S103I True +2926 PRPS1 S103N True +2927 PRPS1 S103T True +3497 ERBB2 S1050L False +2165 FANCA S1088F False +3647 KDR S1100F False +4333 ALK S1206R False +4130 TP53 S127Y False +3969 BRCA1 S1486C False +1499 PIK3CA S158L True +3964 BRCA1 S1655F False +3557 PTEN S170R False +3391 TP53 S183L False +2347 IL7R S185C False +1671 ROS1 S1986F False +1670 ROS1 S1986Y False +4290 MPL S204P False +10 ARAF S214C True +2715 MTOR S2215F False +542 MTOR S2215Y True +4143 TP53 S227C False +243 ATM S2289* True +1065 TP53 S241C False +2777 TP53 S241F True +3788 TP53 S241T True +628 FGFR3 S249C True +3674 NOTCH1 S2514A False +3676 NOTCH1 S2514E False +3677 NOTCH1 S2514P False +4312 SMAD2 S276L True +1562 SMO S278I False +3709 AR S296R False +2946 FGFR2 S320C False +3710 AR S334P False +3254 CTNNB1 S33F False +2281 CTNNB1 S37C False +1495 ABL1 S438C False +2615 EGFR S442I False +2614 EGFR S442R False +2897 NT5C2 S445F True +3502 ERCC2 S44L False +1832 POLE S459F True +1286 CTNNB1 S45F True +1287 CTNNB1 S45P True +692 ESR1 S463P True +2601 EGFR S464L False +2602 EGFR S464T False +825 ARAF S490T True +2610 EGFR S492C False +453 EGFR S492R True +1206 KIT S501_A502INSAY False +1589 SMO S533N False +1290 JAK3 S61C False +1659 KIT S628N True +2956 JAK1 S646F False +980 KIT S692L False +822 JAK1 S703I True +3680 JAK1 S729C False +891 EGFR S752_I759delSPKANKEI False +3723 AR S759P False +562 EGFR S768I True +1443 EGFR S768N False +145 DDR2 S768R True +1182 EGFR S784F False +2701 CBL S80N False +3347 SPOP S80R False +3750 ARHGAP35 S866F False +262 ABCB1 S893T True +3652 KDR S925F False +3645 PIM1 S97N True +4330 ALK T1151K False +1493 ALK T1151M False +743 MLH1 T117M True +3417 TP53 T125R False +3684 TP53 T125T True +3558 PTEN T160I False +3979 BRCA1 T1720A False +2712 MTOR T1977K False +3412 MTOR T1977R False +540 FLT3 T227M True +3782 TP53 T230S True +1587 SMO T241M False +3675 NOTCH1 T2512A False +995 EGFR T263P True +901 ATM T2666A True +3629 BRCA2 T2722R False +3407 PTEN T277A False +3406 PTEN T277I False +3403 PTEN T277R False +2918 PRPS1 T303S True +870 BTK T316A True +2618 EGFR T415M False +1546 KIT T417_D419DELTYDINSI False +2620 KIT T417_D419delinsY True +1285 CTNNB1 T41A True +3503 ERCC2 T46S False +2795 BRAF T488_P492del False +974 KIT T574A False +3445 BRAF T598I False +2824 BRAF T599_V600insT False +2387 CSF3R T618I True +979 KIT T661I False +1267 KIT T670I True +861 EGFR T725M False +3686 PTPRD T781A False +1573 EGFR T785A True +34 EGFR T790M True +2331 ERBB2 T798I True +1305 ERBB2 T798M False +4321 NFE2L2 T80K False +1463 EGFR T847I True +1467 EGFR T854A False +871 ERBB2 T862A True +701 ERBB3 V104M True +2624 TP53 V135A False +1254 TP53 V143A False +2991 KRAS V14I False +3968 BRCA1 V1534M False +2836 MAP2K1 V154I False +3059 BCL2 V156D False +1143 NOTCH1 V1577A False +1144 NOTCH1 V1577E False +3574 TP53 V157D False +1092 TP53 V157F True +1249 BRCA2 V159M True +3554 PTEN V166I False +3970 BRCA1 V1688del False +4117 TP53 V173G False +1086 TP53 V173L False +4139 TP53 V173M False +3998 BRCA1 V1804D False +3595 TP53 V197E False +4120 TP53 V197L False +2805 MAP2K1 V211D False +1251 BRCA2 V211I True +1250 BRCA2 V211L True +3507 ERCC2 V242F False +2348 IL7R V253G False +792 PTPRD V253I True +4123 TP53 V272G True +1035 TP53 V272L False +3790 TP53 V274F True +2751 TP53 V274S False +1604 ABL1 V289I False +2277 CRLF2 V2del False +1576 SMO V321M False +775 MSH6 V352I True +2841 MAP2K2 V35M False +2702 CBL V391I False +1831 POLE V411L True +2612 EGFR V441D False +2613 EGFR V441F True +2611 EGFR V441G False +745 MLH1 V49A True +728 MLH1 V534R True +2938 PRPS1 V53A True +3217 FGFR4 V550E False +2399 FGFR3 V555L False +2400 FGFR3 V555M True +1543 KIT V555_I571DEL False +957 KIT V555_P573DEL False +956 KIT V555_Q556DEL False +2695 KIT V555_V559DEL True +969 KIT V559A False +968 KIT V559D True +966 KIT V559DEL False +970 KIT V559G False +967 KIT V559_V560DEL False +971 KIT V560D True +202 KIT V560DEL True +972 KIT V560G True +1550 KIT V560_L576DEL True +247 PDGFRA V561A True +941 PDGFRA V561D True +2781 FGFR1 V561M False +1551 KIT V569_L576DEL False +1632 FLT3 V592_D593INSDFREY False +3452 BRAF V599D False +3446 BRAF V599E False +3453 BRAF V599K False +3454 BRAF V599R False +11 BRAF V600D True +12 BRAF V600E True +1199 BRAF V600G False +563 BRAF V600K True +1404 BRAF V600L False +1405 BRAF V600M True +991 BRAF V600R False +1658 BRAF V600_K601DELINSD False +3241 BRAF V600_S605delinsDV False +2825 BRAF V601E False +2834 MAP2K1 V60E False +64 JAK2 V617F True +73 KIT V654A True +3205 PDGFRA V658A False +1289 JAK3 V722I False +3230 RET V738A False +1001 EGFR V742A True +3721 AR V757A False +3722 AR V757I False +1578 EGFR V769A False +736 EGFR V769_D770insASV True +872 ERBB2 V773A True +1311 ERBB2 V773L False +1892 EGFR V774A True +1894 EGFR V774M True +1567 EGFR V774_C775insHV False +44 ERBB2 V777L True +2568 RET V804M False +1897 EGFR V834I True +45 ERBB2 V842I True +1466 EGFR V851I True +781 ERBB3 V855A True +3668 PIK3CA V955G True +3001 PIK3CA V955I True +1521 CDKN2A W110* False +3691 PTPRB W130R False +1590 PTCH1 W170X False +3978 BRCA1 W1718C False +1555 BRCA1 W1815X True +3995 BRCA1 W1837R False +3627 BRCA2 W2626C False +1563 SMO W281C False +1583 SMO W281L False +2945 FGFR2 W290C False +3688 ABL2 W469C False +2667 MPL W515L False +837 SMO W535L False +959 KIT W557G False +958 KIT W557R False +960 KIT W557T False +962 KIT W557_E561del False +961 KIT W557_K558del True +1498 KIT W557_V559insC False +1539 PDGFRA W559_R560DELWR False +1292 JAK1 W690* False +1591 PTCH1 W712X False +1571 EGFR W731L True +2703 CBL W802* False +3250 VHL W88* False +935 PIK3CA Y1021C False +2913 MET Y1021H False +3762 TP53 Y126D True +3763 TP53 Y126S True +3456 EP300 Y1414C False +3500 ERCC2 Y14C False +1645 PAPPA2 Y1520X False +1087 TP53 Y163C False +3769 TP53 Y163H True +3800 TP53 Y163N True +3506 ERCC2 Y209C False +922 TP53 Y220C True +3779 TP53 Y220H True +1596 ABL1 Y232S False +1068 TP53 Y234C True +3781 TP53 Y234H True +3770 TP53 Y236S True +3501 ERCC2 Y24C False +803 RUNX1 Y260* True +3614 BRCA2 Y2660D False +3609 BRCA2 Y2726C False +3690 PTPRB Y309C False +2934 PRPS1 Y311C False +3405 PTEN Y336* False +1605 ABL1 Y342H False +2377 RHEB Y35N False +2638 CBL Y371H False +2404 FGFR3 Y373C True +3356 FGFR2 Y375C False +3065 FGFR2 Y376C False +1611 ABL1 Y393C False +3689 ABL2 Y399C False +3239 KIT Y503A False +946 KIT Y503_F504insAY True +1669 LYN Y508F False +48 ESR1 Y537C True +49 ESR1 Y537N True +50 ESR1 Y537S True +952 KIT Y553D False +2737 KIT Y553N False +953 KIT Y553_K558DEL False +1542 KIT Y553_W557DELYEVQW False +1548 KIT Y570_L576DEL False +3233 FLT3 Y589D False +1630 FLT3 Y591_V592INSVDFREYE False +3607 EZH2 Y646C True +2989 EZH2 Y646F True +3364 EZH2 Y646H True +4090 EZH2 Y646N True +2666 EZH2 Y646S True +3514 FGFR3 Y647C False +2986 STAT5B Y665F False +3499 ERCC2 Y72C False +3606 EZH2 Y731D False +3724 AR Y763C False +1665 EGFR Y764_V765insHH True +1575 EGFR Y801H True +3228 RET Y806C False +3229 RET Y806N False +989 KIT Y823D True +3665 ERBB2 Y835F False +3070 FLT3 Y842C True +3234 FLT3 Y842H False +3535 PTEN Y88C False +1642 POLD1 Y956N False +3045 VHL p.F76del False +3310 HDAC9 p.L33R False diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index ff8769e3..20ebd090 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -217,6 +217,7 @@ "metadata": {}, "outputs": [], "source": [ + "\n", "\n", "# This file contains CIViC Variants where we did not attempt to normalize\n", "# since we cannot find a free text or HGVS-like expression to use.\n", @@ -226,47 +227,77 @@ "# normalize\n", "transcript_vars_wf = open(\"transcript_variants.csv\", \"w\")\n", "transcript_vars_wr = csv.writer(transcript_vars_wf, delimiter=\"\\t\")\n", - "transcript_vars_wr.writerow([\"variant_id\", \"variant_name\"])\n", + "transcript_vars_wr.writerow([\"variant_id\", \"variant_name\", \"variant_accepted\"])\n", "\n", "# This file contains protein queries (gene + variant_name) we SHOULD be able to\n", "# normalize\n", "protein_variants_wf = open(\"all_protein_variant_queries.csv\", \"w\")\n", "protein_variants_wr = csv.writer(protein_variants_wf, delimiter=\"\\t\")\n", - "protein_variants_wr.writerow([\"variant_id\", \"gene_name\", \"variant_name\"])\n", + "protein_variants_wr.writerow([\"variant_id\", \"gene_name\", \"variant_name\", \"variant_accepted\"])\n", "\n", "# This file contains genomic queries (genomic HGVS expressions) we SHOULD be able to\n", "# normalize\n", "genomic_variants_wf = open(\"all_genomic_variant_queries.csv\", \"w\")\n", "genomic_variants_wr = csv.writer(genomic_variants_wf, delimiter=\"\\t\")\n", - "genomic_variants_wr.writerow([\"variant_id\", \"hgvs_g\"])\n", + "genomic_variants_wr.writerow([\"variant_id\", \"hgvs_g\", \"variant_accepted\"])\n", "\n", "# This file contains CIViC Variants we do not currently support in Variation Normalizer.\n", "# In these cases, we do not even attempt to try to normalize\n", "not_supported_wf = open(\"not_supported_variants.csv\", \"w\")\n", "not_supported_wr = csv.writer(not_supported_wf, delimiter=\"\\t\")\n", - "not_supported_wr.writerow([\"variant_id\", \"gene_name\", \"variant_name\", \"category\"])\n", + "not_supported_wr.writerow([\"variant_id\", \"gene_name\", \"variant_name\", \"category\", \"variant_accepted\"])\n", "\n", "# This file contains CIViC Variant queries that we were not able to normalize.\n", "unable_to_normalize_wf = open(\"unable_to_normalize_queries.csv\", \"w\")\n", "unable_to_normalize_wr = csv.writer(unable_to_normalize_wf, delimiter=\"\\t\")\n", - "unable_to_normalize_wr.writerow([\"variant_id\", \"query\", \"query_type\",\n", + "unable_to_normalize_wr.writerow([\"variant_id\", \"query\", \"query_type\", \"variant_accepted\",\n", " \"exception_raised\", \"message\", \"warnings\"])\n", "\n", "# Category name for variants we do not support: number of variants we found\n", "variant_category_counts = {c: 0 for c in VariantCategory.__members__}\n", "\n", "# Keep track of total counts\n", - "transcript_vars_total = {\"protein\": 0, \"genomic\": 0}\n", - "should_be_able_to_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", - "can_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", - "unable_to_normalize_total = {\"protein\": 0, \"genomic\": 0}\n", - "exception_total = {\"protein\": 0, \"genomic\": 0}\n", + "transcript_vars_total = {\n", + " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", + " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", + "}\n", + "should_be_able_to_normalize_total = {\n", + " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", + " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", + "}\n", + "can_normalize_total = {\n", + " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", + " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", + "}\n", + "unable_to_normalize_total = {\n", + " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", + " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", + "}\n", + "exception_total = {\n", + " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", + " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", + "}\n", "\n", "queries_found = dict()\n", "\n", + "def is_accepted_variant(v) -> bool:\n", + " \"\"\"Return whether or not a variant (MP) has at least one EID in an accepted status.\"\"\" \n", + " for mp in v.molecular_profiles:\n", + " for ev in mp.evidence_items:\n", + " if ev.status == \"accepted\":\n", + " return True\n", + " return False\n", + "\n", "for variant in variants:\n", " v_name = None\n", " v_q_type = None\n", + "\n", + " # if a variant has at least one EID in an accepted status, it counts towards \n", + " # “accepted”, because that indicates review and approval of the variant as part \n", + " # of the evidence review\n", + " is_accepted = is_accepted_variant(variant)\n", + " accepted_key = \"accepted\" if is_accepted else \"not_accepted\" # used in total counts dicts\n", + " \n", " if \"c.\" in variant.name:\n", " # Try getting genomic HGVS expression first\n", " v_name = ([expr for expr in variant.hgvs_expressions \n", @@ -289,8 +320,9 @@ "\n", " if not v_name:\n", " variant_category_counts[VariantCategory.TRANSCRIPT_VAR.name] += 1\n", - " transcript_vars_wr.writerow([variant.id, variant.name])\n", - " transcript_vars_total[v_q_type] += 1\n", + " transcript_vars_wr.writerow([variant.id, variant.name, is_accepted])\n", + " transcript_vars_total[v_q_type][\"count\"] += 1\n", + " transcript_vars_total[v_q_type][accepted_key] += 1\n", " continue\n", " \n", " gene_name = variant.gene.name.strip()\n", @@ -371,17 +403,18 @@ " if len(categories) == 1:\n", " variant_category_name = categories.pop()\n", " variant_category_counts[variant_category_name.name] += 1\n", - " not_supported_wr.writerow([variant.id, gene_name, variant.name, variant_category_name])\n", + " not_supported_wr.writerow([variant.id, gene_name, variant.name, variant_category_name, is_accepted])\n", " else:\n", " # We should support this, so we need to query the variation normalizer\n", " if v_q_type == \"protein\":\n", " q = f\"{gene_name} {v_name}\"\n", - " protein_variants_wr.writerow([variant.id, gene_name, v_name])\n", + " protein_variants_wr.writerow([variant.id, gene_name, v_name, is_accepted])\n", " else:\n", " q = v_name\n", - " genomic_variants_wr.writerow([variant.id, q])\n", + " genomic_variants_wr.writerow([variant.id, q, is_accepted])\n", "\n", - " should_be_able_to_normalize_total[v_q_type] += 1\n", + " should_be_able_to_normalize_total[v_q_type][\"count\"] += 1\n", + " should_be_able_to_normalize_total[v_q_type][accepted_key] += 1\n", "\n", " if q in queries_found:\n", " queries_found[q].append(variant.id)\n", @@ -411,20 +444,24 @@ "\n", " if is_genes:\n", " variant_category_counts[variant_category_name.name] += 1\n", - " not_supported_wr.writerow([variant.id, gene_name, variant.name, variant_category_name])\n", + " not_supported_wr.writerow([variant.id, gene_name, variant.name, variant_category_name, is_accepted])\n", " is_incomplete = True\n", "\n", " if not is_incomplete:\n", - " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, False,\n", + " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, \n", + " is_accepted, False,\n", " \"unable to normalize\",\n", " variation_norm_resp.warnings])\n", - " unable_to_normalize_total[v_q_type] += 1\n", + " unable_to_normalize_total[v_q_type][\"count\"] += 1\n", + " unable_to_normalize_total[v_q_type][accepted_key] += 1\n", " else:\n", - " can_normalize_total[v_q_type] += 1\n", + " can_normalize_total[v_q_type][\"count\"] += 1\n", + " can_normalize_total[v_q_type][accepted_key] += 1\n", " except Exception as e:\n", - " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, True, str(e),\n", - " None])\n", - " exception_total[v_q_type] += 1\n", + " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, is_accepted,\n", + " True, str(e), None])\n", + " exception_total[v_q_type][\"count\"] += 1\n", + " exception_total[v_q_type][accepted_key] += 1\n", "\n", "# Close all files\n", "transcript_vars_wf.close()\n", @@ -444,7 +481,7 @@ }, { "cell_type": "code", - "execution_count": 10, + "execution_count": 53, "metadata": {}, "outputs": [], "source": [ @@ -461,7 +498,7 @@ }, { "cell_type": "code", - "execution_count": 11, + "execution_count": 54, "metadata": {}, "outputs": [ { @@ -481,7 +518,7 @@ " 'GENOTYPES_COMPOUND': 6}" ] }, - "execution_count": 11, + "execution_count": 54, "metadata": {}, "output_type": "execute_result" } @@ -501,7 +538,7 @@ }, { "cell_type": "code", - "execution_count": 12, + "execution_count": 55, "metadata": {}, "outputs": [ { @@ -521,7 +558,7 @@ " 'GENOTYPES_COMPOUND': '0.17%'}" ] }, - "execution_count": 12, + "execution_count": 55, "metadata": {}, "output_type": "execute_result" } @@ -532,7 +569,7 @@ }, { "cell_type": "code", - "execution_count": 13, + "execution_count": 56, "metadata": {}, "outputs": [ { @@ -541,7 +578,7 @@ "'The Variation Normalizer does not support 45.64% of the total variants'" ] }, - "execution_count": 13, + "execution_count": 56, "metadata": {}, "output_type": "execute_result" } @@ -552,7 +589,7 @@ }, { "cell_type": "code", - "execution_count": 14, + "execution_count": 57, "metadata": {}, "outputs": [ { @@ -561,7 +598,7 @@ "'Total number of variants we do not support in the Variation Normalizer: 1582'" ] }, - "execution_count": 14, + "execution_count": 57, "metadata": {}, "output_type": "execute_result" } @@ -586,16 +623,17 @@ }, { "cell_type": "code", - "execution_count": 15, + "execution_count": 58, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 0, 'genomic': 384}" + "{'protein': {'accepted': 0, 'not_accepted': 0, 'count': 0},\n", + " 'genomic': {'accepted': 51, 'not_accepted': 333, 'count': 384}}" ] }, - "execution_count": 15, + "execution_count": 58, "metadata": {}, "output_type": "execute_result" } @@ -606,7 +644,7 @@ }, { "cell_type": "code", - "execution_count": 16, + "execution_count": 59, "metadata": {}, "outputs": [ { @@ -615,19 +653,61 @@ "384" ] }, - "execution_count": 16, + "execution_count": 59, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "transcript_vars_total_sum = sum(transcript_vars_total.values())\n", + "transcript_vars_total_sum = transcript_vars_total[\"protein\"][\"count\"] + transcript_vars_total[\"genomic\"][\"count\"]\n", "transcript_vars_total_sum" ] }, { "cell_type": "code", - "execution_count": 17, + "execution_count": 61, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'13.28% of these are accepted variants'" + ] + }, + "execution_count": 61, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "transcript_vars_total_accepted = transcript_vars_total[\"protein\"][\"accepted\"] + transcript_vars_total[\"genomic\"][\"accepted\"]\n", + "f\"{transcript_vars_total_accepted / transcript_vars_total_sum * 100:.2f}% of these are accepted variants\"" + ] + }, + { + "cell_type": "code", + "execution_count": 62, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'86.72% of these are NOT accepted variants'" + ] + }, + "execution_count": 62, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "transcript_vars_total_not_accepted = transcript_vars_total[\"protein\"][\"not_accepted\"] + transcript_vars_total[\"genomic\"][\"not_accepted\"]\n", + "f\"{transcript_vars_total_not_accepted / transcript_vars_total_sum * 100:.2f}% of these are NOT accepted variants\"" + ] + }, + { + "cell_type": "code", + "execution_count": 60, "metadata": {}, "outputs": [ { @@ -636,7 +716,7 @@ "'11.08% of the total variants were not attempted to be normalized due to no input query available'" ] }, - "execution_count": 17, + "execution_count": 60, "metadata": {}, "output_type": "execute_result" } @@ -655,16 +735,17 @@ }, { "cell_type": "code", - "execution_count": 18, + "execution_count": 63, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 1465, 'genomic': 425}" + "{'protein': {'accepted': 611, 'not_accepted': 854, 'count': 1465},\n", + " 'genomic': {'accepted': 244, 'not_accepted': 181, 'count': 425}}" ] }, - "execution_count": 18, + "execution_count": 63, "metadata": {}, "output_type": "execute_result" } @@ -675,7 +756,7 @@ }, { "cell_type": "code", - "execution_count": 19, + "execution_count": 64, "metadata": {}, "outputs": [ { @@ -684,19 +765,61 @@ "1890" ] }, - "execution_count": 19, + "execution_count": 64, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "should_be_able_to_normalize_total_sum = sum(should_be_able_to_normalize_total.values())\n", + "should_be_able_to_normalize_total_sum = should_be_able_to_normalize_total[\"protein\"][\"count\"] + should_be_able_to_normalize_total[\"genomic\"][\"count\"]\n", "should_be_able_to_normalize_total_sum" ] }, { "cell_type": "code", - "execution_count": 20, + "execution_count": 66, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'45.24% of these are accepted variants'" + ] + }, + "execution_count": 66, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "should_be_able_to_normalize_total_accepted = should_be_able_to_normalize_total[\"protein\"][\"accepted\"] + should_be_able_to_normalize_total[\"genomic\"][\"accepted\"]\n", + "f\"{should_be_able_to_normalize_total_accepted / should_be_able_to_normalize_total_sum * 100:.2f}% of these are accepted variants\"" + ] + }, + { + "cell_type": "code", + "execution_count": 67, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'54.76% of these are NOT accepted variants'" + ] + }, + "execution_count": 67, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "should_be_able_to_normalize_total_not_accepted = should_be_able_to_normalize_total[\"protein\"][\"not_accepted\"] + should_be_able_to_normalize_total[\"genomic\"][\"not_accepted\"]\n", + "f\"{should_be_able_to_normalize_total_not_accepted / should_be_able_to_normalize_total_sum * 100:.2f}% of these are NOT accepted variants\"" + ] + }, + { + "cell_type": "code", + "execution_count": 65, "metadata": {}, "outputs": [ { @@ -705,7 +828,7 @@ "'The Variation Normalizer SHOULD be able to normalize 54.53% of the total variants'" ] }, - "execution_count": 20, + "execution_count": 65, "metadata": {}, "output_type": "execute_result" } @@ -726,16 +849,17 @@ }, { "cell_type": "code", - "execution_count": 21, + "execution_count": 68, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 66, 'genomic': 3}" + "{'protein': {'accepted': 9, 'not_accepted': 57, 'count': 66},\n", + " 'genomic': {'accepted': 1, 'not_accepted': 2, 'count': 3}}" ] }, - "execution_count": 21, + "execution_count": 68, "metadata": {}, "output_type": "execute_result" } @@ -746,7 +870,7 @@ }, { "cell_type": "code", - "execution_count": 22, + "execution_count": 69, "metadata": {}, "outputs": [ { @@ -755,19 +879,61 @@ "69" ] }, - "execution_count": 22, + "execution_count": 69, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "unable_to_normalize_total_sum = sum(unable_to_normalize_total.values())\n", + "unable_to_normalize_total_sum = unable_to_normalize_total[\"protein\"][\"count\"] + unable_to_normalize_total[\"genomic\"][\"count\"]\n", "unable_to_normalize_total_sum" ] }, { "cell_type": "code", - "execution_count": 23, + "execution_count": 71, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'14.49% of these are accepted variants'" + ] + }, + "execution_count": 71, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "unable_to_normalize_total_accepted = unable_to_normalize_total[\"protein\"][\"accepted\"] + unable_to_normalize_total[\"genomic\"][\"accepted\"]\n", + "f\"{unable_to_normalize_total_accepted / unable_to_normalize_total_sum * 100:.2f}% of these are accepted variants\"" + ] + }, + { + "cell_type": "code", + "execution_count": 72, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'85.51% of these are NOT accepted variants'" + ] + }, + "execution_count": 72, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "unable_to_normalize_total_not_accepted = unable_to_normalize_total[\"protein\"][\"not_accepted\"] + unable_to_normalize_total[\"genomic\"][\"not_accepted\"]\n", + "f\"{unable_to_normalize_total_not_accepted / unable_to_normalize_total_sum * 100:.2f}% of these are NOT accepted variants\"" + ] + }, + { + "cell_type": "code", + "execution_count": 70, "metadata": {}, "outputs": [ { @@ -776,7 +942,7 @@ "'The Variation Normalizer was unable to normalize 1.9907674552798615% of the total variants'" ] }, - "execution_count": 23, + "execution_count": 70, "metadata": {}, "output_type": "execute_result" } @@ -797,7 +963,7 @@ }, { "cell_type": "code", - "execution_count": 24, + "execution_count": 73, "metadata": {}, "outputs": [], "source": [ @@ -828,7 +994,7 @@ }, { "cell_type": "code", - "execution_count": 25, + "execution_count": 74, "metadata": {}, "outputs": [ { @@ -837,7 +1003,7 @@ "'The Variation Normalizer found 60 invalid variants (This is 1.73% of the total variants).'" ] }, - "execution_count": 25, + "execution_count": 74, "metadata": {}, "output_type": "execute_result" } @@ -858,7 +1024,7 @@ }, { "cell_type": "code", - "execution_count": 26, + "execution_count": 75, "metadata": {}, "outputs": [ { @@ -867,7 +1033,7 @@ "'The Variation Normalizer was unable to tokenize 9 variants (0.26% of the total variants).'" ] }, - "execution_count": 26, + "execution_count": 75, "metadata": {}, "output_type": "execute_result" } @@ -878,7 +1044,7 @@ }, { "cell_type": "code", - "execution_count": 27, + "execution_count": 76, "metadata": {}, "outputs": [ { @@ -887,7 +1053,7 @@ "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.00% of the total variants).'" ] }, - "execution_count": 27, + "execution_count": 76, "metadata": {}, "output_type": "execute_result" } @@ -906,16 +1072,17 @@ }, { "cell_type": "code", - "execution_count": 28, + "execution_count": 77, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 0, 'genomic': 0}" + "{'protein': {'accepted': 0, 'not_accepted': 0, 'count': 0},\n", + " 'genomic': {'accepted': 0, 'not_accepted': 0, 'count': 0}}" ] }, - "execution_count": 28, + "execution_count": 77, "metadata": {}, "output_type": "execute_result" } @@ -926,7 +1093,7 @@ }, { "cell_type": "code", - "execution_count": 29, + "execution_count": 78, "metadata": {}, "outputs": [ { @@ -935,19 +1102,19 @@ "0" ] }, - "execution_count": 29, + "execution_count": 78, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "exception_total_sum = sum(exception_total.values())\n", + "exception_total_sum = exception_total[\"protein\"][\"count\"] + exception_total[\"genomic\"][\"count\"]\n", "exception_total_sum" ] }, { "cell_type": "code", - "execution_count": 30, + "execution_count": 79, "metadata": {}, "outputs": [ { @@ -956,7 +1123,7 @@ "'The Variation Normalizer raised an exception for 0.00% of the total variants'" ] }, - "execution_count": 30, + "execution_count": 79, "metadata": {}, "output_type": "execute_result" } @@ -975,16 +1142,17 @@ }, { "cell_type": "code", - "execution_count": 31, + "execution_count": 80, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': 1393, 'genomic': 422}" + "{'protein': {'accepted': 600, 'not_accepted': 793, 'count': 1393},\n", + " 'genomic': {'accepted': 243, 'not_accepted': 179, 'count': 422}}" ] }, - "execution_count": 31, + "execution_count": 80, "metadata": {}, "output_type": "execute_result" } @@ -995,7 +1163,7 @@ }, { "cell_type": "code", - "execution_count": 32, + "execution_count": 81, "metadata": {}, "outputs": [ { @@ -1004,19 +1172,61 @@ "1815" ] }, - "execution_count": 32, + "execution_count": 81, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "can_normalize_total_sum = sum(can_normalize_total.values())\n", + "can_normalize_total_sum = can_normalize_total[\"protein\"][\"count\"] + can_normalize_total[\"genomic\"][\"count\"]\n", "can_normalize_total_sum" ] }, { "cell_type": "code", - "execution_count": 33, + "execution_count": 82, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'46.45% of these are accepted variants'" + ] + }, + "execution_count": 82, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "can_normalize_total_accepted = can_normalize_total[\"protein\"][\"accepted\"] + can_normalize_total[\"genomic\"][\"accepted\"]\n", + "f\"{can_normalize_total_accepted / can_normalize_total_sum * 100:.2f}% of these are accepted variants\"" + ] + }, + { + "cell_type": "code", + "execution_count": 83, + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'53.55% of these are NOT accepted variants'" + ] + }, + "execution_count": 83, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "can_normalize_total_not_accepted = can_normalize_total[\"protein\"][\"not_accepted\"] + can_normalize_total[\"genomic\"][\"not_accepted\"]\n", + "f\"{can_normalize_total_not_accepted / can_normalize_total_sum * 100:.2f}% of these are NOT accepted variants\"" + ] + }, + { + "cell_type": "code", + "execution_count": 84, "metadata": {}, "outputs": [ { @@ -1025,7 +1235,7 @@ "'The Variation Normalizer successfully normalized 96.03% of the variants we SHOULD be able to normalize'" ] }, - "execution_count": 33, + "execution_count": 84, "metadata": {}, "output_type": "execute_result" } @@ -1036,7 +1246,7 @@ }, { "cell_type": "code", - "execution_count": 34, + "execution_count": 85, "metadata": {}, "outputs": [ { @@ -1045,7 +1255,7 @@ "'The Variation Normalizer successfully normalized 52.37% of the total variants'" ] }, - "execution_count": 34, + "execution_count": 85, "metadata": {}, "output_type": "execute_result" } @@ -1066,7 +1276,7 @@ }, { "cell_type": "code", - "execution_count": 35, + "execution_count": 86, "metadata": {}, "outputs": [ { @@ -1076,7 +1286,7 @@ " 'NC_000003.11:g.10183725C>G': [1751, 1787]}" ] }, - "execution_count": 35, + "execution_count": 86, "metadata": {}, "output_type": "execute_result" } diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index 60054747..915227dd 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -1,1199 +1,1199 @@ -variant_id gene_name variant_name category -4188 VHL 10kb Deletion Region Defined Variant -785 CHEK2 1100DELC Protein Consequence -2438 VHL 235 (CAG-TAG) Other -4186 VHL 2kb Deletion Region Defined Variant -823 EPCAM 3' Exon Deletion Region Defined Variant -253 EGFR 3' UTR MUTATION Region Defined Variant -433 HIF1A 3' UTR Polymorphism Region Defined Variant -2367 VHL 3p26.3-25.3 11Mb del Region Defined Variant -265 TYMS 5' TANDEM REPEAT Other -2390 MAP2K1 56_61QKQKVG>R Rearrangements -4187 VHL 5kb Deletion Region Defined Variant -2727 ERBB2 A129 Protein Consequence -2729 TP53 A129 Protein Consequence -2979 KRAS A146 Protein Consequence -3195 VHL A149fs (c.444dup) Copy Number -2144 VHL A56fs (c.166dup) Copy Number -1579 EGFR A767_V769dupASV Copy Number -780 GLI1 ACTB::GLI1 Fusion -3702 NTRK2 AFAP1::NTRK2 Fusion -2577 PDGFRB AGGF1::PDGFRB C843G Fusion -285 BRAF AGK::BRAF Fusion -184 BRAF AKAP9::BRAF Fusion -552 ALK ALK Fusion G1269A Fusion -1307 TP53 ALTERATION Region Defined Variant -2211 BAP1 ALTERNATIVE TRANSCRIPT (ATI) Other -842 BRAF APC Other -2772 NRG1 APP::NRG1 Fusion -3460 AR AR alternative transcripts Other -3622 TFE3 ASPSCR1::TFE3 Fusion -2846 JAK2 ATF7IP::JAK2 Fusion -2632 PDGFRB ATF7IP::PDGFRB Fusion -2758 BRCA1 ATM Other -2178 NRG1 ATP1B1::NRG1 Fusion -309 EGFR AUTOCRINE ACTIVATION Expression -1296 CTNNB1 Activating Mutation Gene Function -2649 KRAS Activating Mutation Gene Function -2657 ERBB2 Activating Mutation Gene Function -3737 EZH2 Activating Mutation Gene Function -839 ALK Alternative Transcript (ATI) Other -3510 BCL2L11 Alternative splicing Other -709 BRCA1 Alu insertion Rearrangements -461 PML B2 DOMAIN MUTATION Region Defined Variant -3312 FGFR1 BAG4::FGFR1 Fusion -3251 BCOR BCOR::CCNB3 Fusion -1 ABL1 BCR::ABL Fusion -1607 ABL1 BCR::ABL A365V Fusion -1608 ABL1 BCR::ABL A366G Fusion -1612 ABL1 BCR::ABL A397P Fusion -1027 ABL1 BCR::ABL D276G Fusion -2900 ABL1 BCR::ABL D363G Fusion -1532 ABL1 BCR::ABL D421G Fusion -3 ABL1 BCR::ABL E255K Fusion -2890 ABL1 BCR::ABL E255K V299L Fusion -1173 ABL1 BCR::ABL E255V Fusion -1526 ABL1 BCR::ABL E279K Fusion -2886 ABL1 BCR::ABL E279K Fusion -2887 ABL1 BCR::ABL E292L Fusion -1183 ABL1 BCR::ABL E292V Fusion -1487 ABL1 BCR::ABL E355G Fusion -2948 ABL1 BCR::ABL E450Q Fusion -1534 ABL1 BCR::ABL E450V Fusion -1536 ABL1 BCR::ABL E453A Fusion -1535 ABL1 BCR::ABL E453K Fusion -1509 ABL1 BCR::ABL E453Q Fusion -2370 ABL1 BCR::ABL E459K Fusion -2901 ABL1 BCR::ABL E98G Fusion -1507 ABL1 BCR::ABL F311I Fusion -1528 ABL1 BCR::ABL F311L Fusion -2358 ABL1 BCR::ABL F311V Fusion -2359 ABL1 BCR::ABL F317C Fusion -1625 ABL1 BCR::ABL F317I Fusion -241 ABL1 BCR::ABL F317L Fusion -2888 ABL1 BCR::ABL F317R Fusion -2343 ABL1 BCR::ABL F317S Fusion -1525 ABL1 BCR::ABL F317V Fusion -1184 ABL1 BCR::ABL F359C Fusion -1523 ABL1 BCR::ABL F359I Fusion -892 ABL1 BCR::ABL F359V Fusion -1152 ABL1 BCR::ABL F486S Fusion -1023 ABL1 BCR::ABL G250E Fusion -1233 ABL1 BCR::ABL G398R Fusion -1531 ABL1 BCR::ABL H396P Fusion -1030 ABL1 BCR::ABL H396R Fusion -1533 ABL1 BCR::ABL I432T Fusion -2340 ABL1 BCR::ABL L248R Fusion -2889 ABL1 BCR::ABL L248R and F359I Fusion -1022 ABL1 BCR::ABL L248V Fusion -2902 ABL1 BCR::ABL L364I Fusion -1530 ABL1 BCR::ABL L364P Fusion -1230 ABL1 BCR::ABL L384M Fusion -1232 ABL1 BCR::ABL L387F Fusion -1488 ABL1 BCR::ABL L387M Fusion -1021 ABL1 BCR::ABL M244V Fusion -2949 ABL1 BCR::ABL M244V and L364I Fusion -1524 ABL1 BCR::ABL M343T Fusion -1029 ABL1 BCR::ABL M351T Fusion -2954 ABL1 BCR::ABL M388L Fusion -2951 ABL1 BCR::ABL N146S Fusion -1529 ABL1 BCR::ABL N331S Fusion -1640 ABL1 BCR::ABL N336S Fusion -2950 ABL1 BCR::ABL N49S Fusion -1537 ABL1 BCR::ABL P480A Fusion -1024 ABL1 BCR::ABL Q252H Fusion -1600 ABL1 BCR::ABL Q252R Fusion -1527 ABL1 BCR::ABL Q300R Fusion -1613 ABL1 BCR::ABL S417Y Fusion -2953 ABL1 BCR::ABL S438C Fusion -2335 ABL1 BCR::ABL T315A Fusion -2 ABL1 BCR::ABL T315I Fusion -2885 ABL1 BCR::ABL T315V Fusion -2903 ABL1 BCR::ABL V186A Fusion -2952 ABL1 BCR::ABL V298I Fusion -1231 ABL1 BCR::ABL V299L Fusion -1609 ABL1 BCR::ABL V379I Fusion -1026 ABL1 BCR::ABL Y253F Fusion -2909 ABL1 BCR::ABL Y253F Fusion -1025 ABL1 BCR::ABL Y253H Fusion -2860 JAK2 BCR::JAK2 Fusion -2971 PDGFRA BCR::PDGFRA Fusion -594 CEBPA BIALLELIC INACTIVATION Other -656 BRAF BRAF::CUL1 Fusion -719 BRD4 BRD4::NUTM1 Fusion -532 PALB2 Biallelic Inactivation Other -2391 MAP2K1 C121S and G128D Protein Consequence -2132 VHL C77fs (c.228dup) Copy Number -2769 ALK CAD::ALK Fusion -2630 CBFA2T3 CBFA2T3::GLIS2 Fusion -431 CBFB CBFB::MYH11 Fusion -626 RET CCDC6::RET Fusion -3385 CD44 CD44s Expression -341 CD44 CD44s Expression Expression -3386 CD44 CD44v5 and CD44v6 Expression -3373 CD44 CD44v6 Other -3388 CD44 CD44v6 and CD44v10 Expression -3387 CD44 CD44v6+/CD44s- Expression -3369 CD44 CD44v8-10 Expression -3368 CD44 CD44v9 Other -3367 CD44 CD4v8-v10 and CD44v3-v10 Expression -2771 NRG1 CD74::NRG1 Other -465 ROS1 CD74::ROS1 G2032R Other -518 ROS1 CD74::ROS1 G2101A Other -516 ROS1 CD74::ROS1 L2026M Other -517 ROS1 CD74::ROS1 L2155S Other -3474 CEACAM1 CEACAM1-L Other -3475 CEACAM1 CEACAM1-S Other -3270 ABL1 CENPC::ABL1 Fusion -3252 CIC CIC::DUX4 Fusion -3987 CIC CIC::LEUTX Fusion -520 ALK CLTC::ALK Fusion -3991 PDGFB COL1A1-PDGFB fusion Fusion -2972 PDGFB COL1A1::PDGFB Fusion -1300 TP53 CONSERVED DOMAIN MUT Other -821 HLA-C COPY-NEUTRAL LOSS OF HETEROZYGOSITY Genotypes Compound -599 CTLA4 CTLA4::CD28 Fusion -2229 BRAF CUX1::BRAF Fusion -447 FGF13 CYTOPLASMIC EXPRESSION Expression -1283 CDK2 CYTOPLASMIC EXPRESSION Expression -360 CDKN1B CYTOPLASMIC MISLOCALIZATION Other -3408 TEK Cis double mutants Other -2800 BRAF Class 2 Mutations Other -2801 BRAF Class 3 Mutations Other -191 EGFR Copy Number Variation Copy Number -2734 TP53 D184 Protein Consequence -2767 BRAF D594 Protein Consequence -746 MLH1 D667FS Protein Consequence -437 FLT3 D835 Protein Consequence -3231 FLT3 D835 & I836 Protein Consequence -613 FLT3 D835H/Y Protein Consequence -943 PDGFRA D842_H845DELDIMH Rearrangements -2394 NTRK1 DDR2::NTRK1 Fusion -2706 DEK DEK::AFF2 Fusion -522 BRAF DEL 485-490 Region Defined Variant -954 KIT DEL 554-558 Region Defined Variant -647 LRP1B DELETION Gene Function -3023 PML DELETION (p.K227_T233del) Protein Consequence -1663 BRAF DELNVTAP Other -2685 DGKH DGKH::ZFAND3 Fusion -242 TP53 DNA Binding Domain Mutation Region Defined Variant -31 PRKACA DNAJB1::PRKACA Fusion -738 DPYD DPYD*13 HOMOZYGOSITY Genotypes Compound -737 DPYD DPYD*2A HOMOZYGOSITY Genotypes Compound -2589 DUX4 DUX4::IGH Fusion -3509 AIMP2 DX2 Protein Consequence -334 VEGFA Decreased Peri-therapeutic Expression Expression -221 TP53 Deleterious Mutation Region Defined Variant -200 IKZF1 Deletion Gene Function -213 PTEN Deletion Gene Function -250 GSTP1 Deletion Gene Function -646 SMAD4 Deletion Gene Function -696 SMARCB1 Deletion Gene Function -856 CREBBP Deletion Gene Function -1982 SUFU Deletion Gene Function -1983 PTCH1 Deletion Gene Function -2654 CDKN2A Deletion Gene Function -2932 VHL Deletion Gene Function -3309 ATRX Deletion Gene Function -4314 CDKN2B Deletion Gene Function -4316 PAX5 Deletion Gene Function -4317 ERG Deletion Gene Function -526 BCL2L11 Deletion Polymorphism Region Defined Variant -3009 ABL1 Double Ph Rearrangements -725 MLH1 E13fs Protein Consequence -2994 MAEA E151INT Other -2591 DICER1 E1813 mutations Protein Consequence -572 MTOR E2014K and E2419K Protein Consequence -2730 TP53 E204 Protein Consequence -763 MSH2 E28FS Protein Consequence -2763 PIK3CA E545 Protein Consequence -3328 FLT3 E573Δ Other -1544 FLT3 E611_F612INS25 Protein Consequence -2258 EGFR E709A and G719C Protein Consequence -2256 EGFR E709K and G719A Protein Consequence -1577 EGFR E709_T710>D Rearrangements -1635 EGFR E746_A750>IP Rearrangements -1433 EGFR E746_S752>A Rearrangements -1003 EGFR E746_T751>I Rearrangements -2847 JAK2 EBF1::JAK2 Fusion -535 PDGFRB EBF1::PDGFRB Fusion -3484 FN1 EDB Other -4294 EGFR EGFR::BRAF Fusion -4283 EGFR EGFR::PPARGC1A Fusion -4282 EGFR EGFR::PURB Fusion -2203 EGFR EGFR::RAD51 Fusion -4241 EGFR EGFR::SEPT14 Fusion -4343 EGFR EGFR::VSTM2A Fusion -4344 EGFR EGFR::WIF1 Fusion -5 ALK EML4::ALK Fusion -528 ALK EML4::ALK V1180L Fusion -6 ALK EML4::ALK C1156Y Fusion -2813 ALK EML4::ALK G1202del Fusion -308 ALK EML4::ALK G1269A Fusion -589 ALK EML4::ALK I1171S Fusion -7 ALK EML4::ALK L1196M Fusion -172 ALK EML4::ALK S1206Y Fusion -173 ALK EML4::ALK T1151INST Fusion -501 ALK EML4::ALK e2-e20 Fusion -500 ALK EML4::ALK e20-e20 Fusion -3204 ALK EML4::ALK e6-e19 G1269A and Amplification Fusion -503 ALK EML4::ALK e6-e20 Fusion -4020 EML4 EML4::NTRK3 Fusion -4299 NTRK3 EML4::NTRK3 Fusion -2750 ALK EML6::ALK e1-e20 and FBXO11::ALK e1-e20 Fusion -4075 EML6 EML6::NTRK3 Fusion -2670 EPHB2 EPHB2 Protein Consequence -4308 ALK ERC1::ALK Fusion -2575 ABL1 ETV6::ABL1 Fusion -2859 JAK2 ETV6::JAK2 Fusion -3700 NTRK1 ETV6::NTRK1 Fusion -2396 NTRK2 ETV6::NTRK2 Fusion -801 NTRK3 ETV6::NTRK3 Fusion -805 NTRK3 ETV6::NTRK3 G623R Fusion -3140 ETV6 ETV6::RUNX1 Fusion -4005 EWSR1 EWSR1-ERG Fusion -3054 EWSR1 EWSR1::ATF1 Fusion -717 DDIT3 EWSR1::DDIT3 Fusion -194 ERG EWSR1::ERG Fusion -706 EWSR1 EWSR1::FLI1 Fusion -164 FLI1 EWSR1::FLI1 e7-e6 Fusion -2385 EWSR1 EWSR1::NR4A3 Fusion -2941 EWSR1 EWSR1::WT1 Fusion -2472 VHL EXON 1-2 DELETION and BRK1 DELETION Region Defined Variant -303 STK11 EXON 1-2 MUTATION Region Defined Variant -2893 DPYD EXON 11-19 DELETION Region Defined Variant -86 NPM1 EXON 12 MUTATION Region Defined Variant -557 ASXL1 EXON 12 MUTATION Region Defined Variant -266 LRP1B EXON 12-22 DELETION Region Defined Variant -464 MET EXON 14 MUTATION and AMPLIFICATION Region Defined Variant -74 KRAS EXON 2 Mutations Region Defined Variant -1940 VHL EXON 2-3 DELETION Region Defined Variant -559 CALR EXON 9 FRAMESHIFT Other -25 CDK4 EXPRESSION Expression -57 GATA2 EXPRESSION Expression -158 AURKA EXPRESSION Expression -182 BAP1 EXPRESSION Expression -278 AKT2 EXPRESSION Expression -316 TGFA EXPRESSION Expression -318 EREG EXPRESSION Expression -319 EFNA2 EXPRESSION Expression -326 CBLC EXPRESSION Expression -328 DEFA1 EXPRESSION Expression -335 DNMT1 EXPRESSION Expression -337 PDCD4 EXPRESSION Expression -339 TFF3 EXPRESSION Expression -342 EGF EXPRESSION Expression -343 MDM2 EXPRESSION Expression -344 HMOX1 EXPRESSION Expression -355 CDKN1A EXPRESSION Expression -356 ALCAM EXPRESSION Expression -357 STMN1 EXPRESSION Expression -361 ERBB3 EXPRESSION Expression -363 UGT1A EXPRESSION Expression -365 ERBB4 EXPRESSION Expression -366 SLFN11 EXPRESSION Expression -372 CDKN1B EXPRESSION Expression -373 AGR2 EXPRESSION Expression -380 IGF1R EXPRESSION Expression -381 EPHB4 EXPRESSION Expression -383 TOP2A EXPRESSION Expression -384 TOP1 EXPRESSION Expression -386 HSPA5 EXPRESSION Expression -389 TUBB3 EXPRESSION Expression -392 CFLAR EXPRESSION Expression -393 PROM1 EXPRESSION Expression -394 FOXP3 EXPRESSION Expression -398 DUSP6 EXPRESSION Expression -400 HSPB1 EXPRESSION Expression -401 NQO1 EXPRESSION Expression -405 CXCR4 EXPRESSION Expression -406 MAGEH1 EXPRESSION Expression -410 CDX2 EXPRESSION Expression -412 POU5F1 EXPRESSION Expression -423 HLA-DRA EXPRESSION Expression -429 KIT EXPRESSION Expression -444 NEDD9 EXPRESSION Expression -474 CIP2A EXPRESSION Expression -476 MIR218-1 EXPRESSION Expression -492 ECSCR EXPRESSION Expression -493 ROBO4 EXPRESSION Expression -537 RB1 EXPRESSION Expression -546 ACTA1 EXPRESSION Expression -624 MKI67 EXPRESSION Expression -625 RAD23B EXPRESSION Expression -651 AXL EXPRESSION Expression -652 GAS6 EXPRESSION Expression -660 HIF1A EXPRESSION Expression -662 MLH1 EXPRESSION Expression -670 MYCL EXPRESSION Expression -671 HGF EXPRESSION Expression -673 FGF2 EXPRESSION Expression -700 KIF23 EXPRESSION Expression -857 NTRK3 EXPRESSION Expression -1258 PTPRF EXPRESSION Expression -1262 MDM4 EXPRESSION Expression -1284 DCC EXPRESSION Expression -2163 CTLA4 EXPRESSION Expression -2207 PDCD1LG2 EXPRESSION Expression -2208 LAG3 EXPRESSION Expression -2594 ASCL1 EXPRESSION Expression -2984 CXCL10 EXPRESSION Expression -3042 CDK6 EXPRESSION Expression -3330 TCF19 EXPRESSION Expression -1854 EGFR Ex19 del L858R Region Defined Variant -2870 VHL Exon 1 (Frameshift) Other -844 VHL Exon 1 Deletion Region Defined Variant -2465 VHL Exon 1 del (151nt) Region Defined Variant -845 VHL Exon 1-2 Deletion Region Defined Variant -843 VHL Exon 1-3 Deletion Region Defined Variant -106 PIK3CA Exon 10 Mutation Region Defined Variant -1991 PIK3CA Exon 10 and Exon 21 Mutation Region Defined Variant -3311 PIK3CA Exon 10 or Exon 21 Mutation Region Defined Variant -66 KIT Exon 11 Mutation Region Defined Variant -2643 KIT Exon 13 Mutation Region Defined Variant -69 KIT Exon 14 Mutation Region Defined Variant -2778 MET Exon 14 Mutation Region Defined Variant -324 MET Exon 14 Skipping Mutation Region Defined Variant -2650 BRAF Exon 15 Mutation Region Defined Variant -2623 PDGFRA Exon 18 Mutation Region Defined Variant -375 EGFR Exon 18 Overexpression Other -2257 EGFR Exon 18 deletion Region Defined Variant -133 EGFR Exon 19 Deletion Region Defined Variant -1938 VHL Exon 2 Deletion Region Defined Variant -75 KRAS Exon 2 Mutation Region Defined Variant -1971 VHL Exon 2-3 Deletion Region Defined Variant -726 EGFR Exon 20 Insertion Other -2854 ERBB2 Exon 20 Insertion Other -105 PIK3CA Exon 21 Mutation Region Defined Variant -1939 VHL Exon 3 Deletion Region Defined Variant -1973 VHL Exon 3 Deletion Region Defined Variant -2047 CTNNB1 Exon 3 Deletion Region Defined Variant -2892 CTNNB1 Exon 3 Mutation Region Defined Variant -3749 VHL Exon 3 Variant Region Defined Variant -252 EGFR Exon 4 Deletion Region Defined Variant -350 SETBP1 Exon 4 Mutation Region Defined Variant -550 ALK Exon 4-11 Deletion Region Defined Variant -129 WT1 Exon 7 Mutation Region Defined Variant -130 WT1 Exon 9 Mutation Region Defined Variant -509 KIT Exon 9 Mutation Region Defined Variant -3100 VHL Exon Deletion Region Defined Variant -19 CCND1 Expression Expression -210 PGR Expression Expression -268 FGFR1 Expression Expression -276 CD274 Expression Expression -313 PTEN Expression Expression -314 NRG1 Expression Expression -315 AREG Expression Expression -329 ERCC1 Expression Expression -354 EGFR Expression Expression -376 ZEB1 Expression Expression -397 BRCA1 Expression Expression -533 SMAD4 Expression Expression -683 PAX8 Expression Expression -2209 DLL3 Expression Expression -2595 HDAC2 Expression Expression -2914 ALK Expression Expression -2966 MGMT Expression Expression -2993 CDK5 Expression Expression -3014 CSF1R Expression Expression -3319 BTK Expression Expression -3320 BLK Expression Expression -3992 STAT1 Expression Expression -4336 FLT3LG Expression Expression -2621 KIT F506_F508DUP Copy Number -2158 VHL F76fs (c.222_225dup) Copy Number -1912 VHL F76fs (c.223_224insT) Copy Number -2656 BRAF FAM131B::BRAF Fusion -2987 BRAF FAM73A::BRAF Fusion -2743 FGFR1 FGFR1OP2::FGFR1 Fusion -783 FGFR2 FGFR2::AHCYL1 Fusion -782 FGFR2 FGFR2::BICC1 Fusion -52 FGFR2 FGFR2::MGEA5 Fusion -54 FGFR2 FGFR2::TACC3 Fusion -53 FGFR3 FGFR3::BAIAP2L1 Fusion -830 FGFR3 FGFR3::TACC3 Fusion -574 PDGFRA FIP1L1::PDGFRA Fusion -577 PDGFRA FIP1L1::PDGFRA T674I Fusion -2682 ABL1 FOXP1::ABL1 Fusion -667 MEN1 FRAMESHIFT TRUNCATION Protein Consequence -722 DDIT3 FUS::DDIT3 Fusion -3149 RELA FUSION Fusion -428 MRE11 Frameshift Protein Consequence -2812 MBD4 Frameshift Protein Consequence -124 TSC1 Frameshift Truncation Protein Consequence -419 NTRK1 Fusion Fusion -499 ALK Fusion Fusion -524 DUX4 Fusion Fusion -567 PDGFRA Fusion Fusion -568 PDGFRB Fusion Fusion -569 FGFR1 Fusion Fusion -1277 NTRK3 Fusion Fusion -1687 RET Fusion Fusion -1691 FGFR3 Fusion Fusion -2202 FGFR2 Fusion Fusion -2286 NRG1 Fusion Fusion -2566 ABL1 Fusion Fusion -2571 ABL2 Fusion Fusion -2572 JAK2 Fusion Fusion -2639 BRAF Fusion Fusion -2640 NTRK2 Fusion Fusion -2693 ROS1 Fusion Fusion -2779 STAT6 Fusion Fusion -2806 KMT2A Fusion Fusion -2830 ETV1 Fusion Fusion -3081 RAF1 Fusion Fusion -3315 TP53 Fusion Fusion -3957 RASGRF1 Fusion Fusion -76 KRAS G12 Protein Consequence -92 NRAS G12 Protein Consequence -77 KRAS G12/G13 Protein Consequence -596 NRAS G12/G13 Protein Consequence -80 KRAS G13 Protein Consequence -2721 TP53 G245 Protein Consequence -2724 TP53 G266 Protein Consequence -3587 H3-3A G34 Protein Consequence -3742 KIT G3BP2::KIT Fusion -2822 BRAF G469 Protein Consequence -3469 NTRK1 G595R and G667S Protein Consequence -2768 BRAF G596 Protein Consequence -730 MLH1 G606FS*2 Protein Consequence -718 EGFR G719 Protein Consequence -1557 ERBB2 G776INSV_G/C Protein Consequence -817 ERBB2 G778_P780DUP Copy Number -3033 RET G810 Protein Consequence -3214 JAK2 GOLGA5::JAK2 Fusion -2395 NTRK1 GON4L::NTRK1 Fusion -2770 ROS1 GOPC::ROS1 Fusion -4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 Copy Number -3305 TNFRSF17 Gain Copy Number -2061 ACVR1 Gain-of-Function Other -2172 MTOR Gain-of-Function Other -1765 EGFR Gain-of-function Other -3766 PIK3CA H1047L or H1047R Protein Consequence -2581 NCOA2 HEY1::NCOA2 Fusion -588 ALK HIP1::ALK I1171N Fusion -2969 HMGA2 HMGA2::LPP Fusion -3597 DDR2 High expression Expression -527 ALK I1171 Protein Consequence -271 ATR I774FS Protein Consequence -3232 FLT3 I836 Protein Consequence -765 MSH6 I891FS Protein Consequence -151 BCL2 IGH::BCL2 Fusion -2663 CRLF2 IGH::CRLF2 Fusion -4309 FGFR3 IGHA1::FGFR3 Fusion -2744 IKZF1 IKZF1 deletion and mutation Region Defined Variant -2686 IL2RB IL2RB::MYH9 Fusion -218 SMARCA4 INACTIVATING MUTATION Gene Function -2238 BARD1 ISOFORM EXPRESSION Expression -55 FLT3 ITD Rearrangements -3220 FLT3 ITD N676D Rearrangements -3209 FLT3 ITD & D835(V/Y/F/H) Rearrangements -3211 FLT3 ITD & D839G Rearrangements -3284 FLT3 ITD & L601F Rearrangements -3636 FLT3 ITD & N841K Rearrangements -3118 FLT3 ITD & TKD MUTATIONS Other -3283 FLT3 ITD & Y597F Rearrangements -3210 FLT3 ITD & Y842C Rearrangements -3219 FLT3 ITD D651G Rearrangements -3221 FLT3 ITD I687F Rearrangements -2785 FLT3 ITD N676K Rearrangements -3218 FLT3 ITD and co-mutations Rearrangements -3208 FLT3 ITD&F691(I/L) Rearrangements -788 CHEK2 IVS2+1G>A Other -2674 RB1 IVS20, A-G, -2 Other -2895 NUDT15 Inactivating Mutation Gene Function -67 KIT Internal Duplication Copy Number -2659 FGFR1 Internal Duplication Copy Number -4150 BCOR Internal tandem duplication Copy Number -4229 BCOR Internal tandem duplication (ITD) Other -257 EZH2 Intron 6 Mutation Region Defined Variant -2722 TP53 K132 Protein Consequence -279 NF2 K159fs Protein Consequence -1872 VHL K159fs (c.473dup) Copy Number -2988 PCNA K164R LOSS-OF-MODIFICATION Other -3476 H3-3A K27 Protein Consequence -3010 ABL1 K356dup Copy Number -3273 MSH3 K383fs Protein Consequence -4177 PDGFRA K385 Protein Consequence -1166 ATM K468FS Protein Consequence -1549 KIT K558NP Rearrangements -2765 BRAF K601 Protein Consequence -508 PMS2 K706FS*19 Protein Consequence -2964 RUNX1 K90fsX101 Protein Consequence -3158 NTRK2 KANK1::NTRK2 Fusion -4001 ALK KANK4::ALK Fusion -618 BRAF KIAA1549::BRAF Fusion -4300 EGFR KIF5B::EGFR Fusion -2707 MET KIF5B::MET Fusion -273 RET KIF5B::RET Fusion -1689 RET KIF5B::RET G810A Fusion -1688 RET KIF5B::RET V804L Fusion -3552 KMT2A KMT2A::ABI1 Fusion -3551 KMT2A KMT2A::AF10 Fusion -3550 KMT2A KMT2A::AF6 Fusion -432 KMT2A KMT2A::MLLT3 Fusion -3117 KMT2A KMT2A::MLLT4 Fusion -2210 ASNS KMT2E::ASNS Fusion -3472 KRAS KRAS4A Other -3471 KRAS KRAS4A underexpression Other -413 ERBB2 Kinase Domain Mutation Region Defined Variant -2731 TP53 L114 Protein Consequence -1783 VHL L158fs (c.471dupT) Copy Number -2735 TP53 L206 Protein Consequence -1318 TP53 L3 Domain Mutation Region Defined Variant -1677 FBXW7 L403FS*34 Protein Consequence -541 PALB2 L531FS*30 Protein Consequence -2766 BRAF L597 Protein Consequence -2997 EGFR L718V and L718Q Protein Consequence -1006 EGFR L747_A750>P Rearrangements -1011 EGFR L747_P753>Q Rearrangements -4221 AKT2 L78_Q79ins Rearrangements -1866 EGFR L861 Protein Consequence -3483 LGR5 LGR5FL Expression -1278 NTRK1 LMNA::NTRK1 Fusion -1282 NTRK1 LMNA::NTRK1 G595R and G667C Fusion -3225 NTRK1 LMNA::NTRK1 e11-e10 Fusion -3223 NTRK1 LMNA::NTRK1 e2-e10 Fusion -3224 NTRK1 LMNA::NTRK1 e2-e11 Fusion -302 PTCH1 LOH Genotypes Compound -564 SMAD4 LOSS Gene Function -809 MSH6 LOSS Gene Function -3659 SMARCB1 LOSS OF NUCLEAR PROTEIN EXPRESSION Expression -2596 LZTR1 LOSS-OF-FUNCTION Gene Function -2755 FUBP1 LOSS-OF-FUNCTION Gene Function -2968 HMGA2 LPP::HMGA2 Fusion -3272 ABL1 LSM14A::ABL1 Fusion -23 CCND3 Loss Gene Function -214 PTEN Loss Gene Function -370 MRE11 Loss Gene Function -436 VHL Loss Gene Function -485 STK11 Loss Gene Function -554 CDKN2A Loss Gene Function -555 CDKN2B Loss Gene Function -672 SOX10 Loss Gene Function -697 NF2 Loss Gene Function -698 NF1 Loss Gene Function -808 MSH2 Loss Gene Function -853 NBN Loss Gene Function -925 STK11 Loss Gene Function -1876 CIC Loss Gene Function -1879 ATXN1L Loss Gene Function -1880 ATM Loss Gene Function -2212 BAP1 Loss Gene Function -2230 ASS1 Loss Gene Function -2232 FLCN Loss Gene Function -2234 KMT2D Loss Gene Function -2365 TF Loss Gene Function -2644 SMARCA4 Loss Gene Function -2754 PRKN Loss Gene Function -3202 SMARCB1 Loss Gene Function -4310 KDM6A Loss Gene Function -125 TSC1 Loss-of-function Gene Function -131 BRCA1 Loss-of-function Gene Function -132 BRCA2 Loss-of-function Gene Function -159 VHL Loss-of-function Gene Function -167 KMT2D Loss-of-function Gene Function -230 CHEK2 Loss-of-function Gene Function -236 CDK12 Loss-of-function Gene Function -534 FANCC Loss-of-function Gene Function -601 NOTCH1 Loss-of-function Gene Function -606 RB1 Loss-of-function Gene Function -637 FBXW7 Loss-of-function Gene Function -721 CYP2D6 Loss-of-function Gene Function -819 PTPRB Loss-of-function Gene Function -1293 ARID1A Loss-of-function Gene Function -2171 TSC2 Loss-of-function Gene Function -2219 BARD1 Loss-of-function Gene Function -2235 RASA1 Loss-of-function Gene Function -2236 ATM Loss-of-function Gene Function -2415 SMAD4 Loss-of-function Gene Function -2424 KMT2C Loss-of-function Gene Function -2565 PTPN12 Loss-of-function Gene Function -2705 PBRM1 Loss-of-function Gene Function -3316 MEN1 Loss-of-function Gene Function -4269 ATRX Loss-of-function Gene Function -1247 BRCA2 M1R Other -1889 VHL M54fs (c.161dup) Copy Number -638 RB1 M695FS*26 Protein Consequence -2227 BRAF MACF1::BRAF Fusion -3988 MAP3K8 MAP3K8 fusion Fusion -3148 MEF2D MEF2D Rearrangement Rearrangements -30 CSF1R MEF2D::CSF1R Fusion -2894 MET MET::ATXN7L1 Fusion -538 MLH1 METHYLATION Epigenetic Modification -784 CDKN2B METHYLATION Epigenetic Modification -3114 MN1 MN1::CXXC5 Fusion -217 SMARCA4 MUTATION Region Defined Variant -521 U2AF1 MUTATION Region Defined Variant -595 SRSF2 MUTATION Region Defined Variant -623 POT1 MUTATION Region Defined Variant -644 PRDM1 MUTATION Region Defined Variant -659 NF2 MUTATION Region Defined Variant -664 CDH1 MUTATION Region Defined Variant -665 RHOA MUTATION Region Defined Variant -668 KMT2C MUTATION Region Defined Variant -669 STAG2 MUTATION Region Defined Variant -674 EIF1AX MUTATION Region Defined Variant -2169 BTK MUTATION Region Defined Variant -2170 PLCG2 MUTATION Region Defined Variant -2652 H3-3A MUTATION Region Defined Variant -2761 ZRSR2 MUTATION Region Defined Variant -2773 RABL3 MUTATION Region Defined Variant -3052 CD79B MUTATION Region Defined Variant -3073 CARD11 MUTATION Region Defined Variant -3138 NPM1 MUTATION Region Defined Variant -2665 MYB MYB::GATA1 Fusion -4327 MYB MYB::QKI Fusion -3586 MYC MYC AND (BCL2 OR BCL6) TRANSLOCATION Rearrangements -29 CEBPA Mutation Region Defined Variant -155 RUNX1 Mutation Region Defined Variant -157 TET2 Mutation Region Defined Variant -160 VHL Mutation Region Defined Variant -161 PBRM1 Mutation Region Defined Variant -163 EZH2 Mutation Region Defined Variant -174 APC Mutation Region Defined Variant -177 ASXL1 Mutation Region Defined Variant -178 ATM Mutation Region Defined Variant -183 BAP1 Mutation Region Defined Variant -185 BRCA1 Mutation Region Defined Variant -186 BRCA2 Mutation Region Defined Variant -189 DNMT3A Mutation Region Defined Variant -206 NOTCH1 Mutation Region Defined Variant -208 NRAS Mutation Region Defined Variant -215 SF3B1 Mutation Region Defined Variant -216 SMAD4 Mutation Region Defined Variant -222 TP53 Mutation Region Defined Variant -275 HRAS Mutation Region Defined Variant -277 MTOR Mutation Region Defined Variant -281 FBXW7 Mutation Region Defined Variant -297 RIT1 Mutation Region Defined Variant -300 SMO Mutation Region Defined Variant -301 PTCH1 Mutation Region Defined Variant -310 ERBB4 Mutation Region Defined Variant -311 PIK3CA Mutation Region Defined Variant -323 MET Mutation Region Defined Variant -327 PTPRD Mutation Region Defined Variant -336 KRAS Mutation Region Defined Variant -388 KIT Mutation Region Defined Variant -399 BRAF Mutation Region Defined Variant -442 EGFR Mutation Region Defined Variant -505 GNAQ Mutation Region Defined Variant -506 GNA11 Mutation Region Defined Variant -510 PTEN Mutation Region Defined Variant -511 FGFR2 Mutation Region Defined Variant -512 ALK Mutation Region Defined Variant -519 FLT3 Mutation Region Defined Variant -560 CSF3R Mutation Region Defined Variant -570 IDH2 Mutation Region Defined Variant -587 NF1 Mutation Region Defined Variant -600 AR Mutation Region Defined Variant -633 PIK3R1 Mutation Region Defined Variant -645 IDH1 Mutation Region Defined Variant -663 BCOR Mutation Region Defined Variant -666 ERBB2 Mutation Region Defined Variant -713 CRBN Mutation Region Defined Variant -715 STK11 Mutation Region Defined Variant -797 POLE Mutation Region Defined Variant -799 RB1 Mutation Region Defined Variant -827 FGFR3 Mutation Region Defined Variant -1690 RET Mutation Region Defined Variant -2231 FLCN Mutation Region Defined Variant -2233 BCL2 Mutation Region Defined Variant -2237 KDM5C Mutation Region Defined Variant -2388 CALR Mutation Region Defined Variant -2567 ETV6 Mutation Region Defined Variant -2641 FGFR1 Mutation Region Defined Variant -2642 PTPN11 Mutation Region Defined Variant -2668 FOXO3 Mutation Region Defined Variant -2692 B2M Mutation Region Defined Variant -2699 CBL Mutation Region Defined Variant -2704 CDKN2A Mutation Region Defined Variant -2749 NFE2L2 Mutation Region Defined Variant -2759 PALB2 Mutation Region Defined Variant -2760 MPL Mutation Region Defined Variant -2764 CDK12 Mutation Region Defined Variant -2898 NT5C2 Mutation Region Defined Variant -2958 SDHB Mutation Region Defined Variant -2983 ACVR1 Mutation Region Defined Variant -3072 GATA2 Mutation Region Defined Variant -3115 GATA1 Mutation Region Defined Variant -3203 ATRX Mutation Region Defined Variant -3274 PDGFRA Mutation Region Defined Variant -4018 MS4A1 Mutation Region Defined Variant -3127 WT1 Mutations Region Defined Variant -28 CEBPA N-TERMINAL FRAME SHIFT Protein Consequence -1581 EGFR N771>GY Rearrangements -1320 ERBB2 NON-AMPLIFICATION Copy Number -513 ALK NPM::ALK Fusion -2883 BRAF NRF1::BRAF Fusion -2762 NRG1 NRG1 FUSIONS Fusion -3740 NTRK1 NTRK1 amplification Copy Number -340 DKK1 NUCLEAR EXPRESSION Expression -368 BIRC5 NUCLEAR EXPRESSION Expression -391 IGF1R NUCLEAR EXPRESSION Expression -438 PSMB8 NUCLEAR EXPRESSION Expression -439 PBK NUCLEAR EXPRESSION Expression -490 HSPH1 NUCLEAR EXPRESSION Expression -494 PIM1 NUCLEAR EXPRESSION Expression -364 ERBB4 NUCLEAR TRANSLOCATION Rearrangements -3271 ABL1 NUP153::ABL1 Fusion -2660 ABL1 NUP214::ABL1 Fusion -3111 NUP98 NUP98::KDM5A Fusion -2593 NUP98 NUP98::NSD1 Fusion -2376 ABL1 Non-P-Loop Mutation Region Defined Variant -2408 BRAF Non-V600 Region Defined Variant -3297 VHL Null (11 kb 3' deletion) Gene Function -2016 VHL Null (Complete deletion) Gene Function -2182 VHL Null (Large deletion) Gene Function -1947 VHL Null (Partial deletion of 4.6 Kb) Gene Function -2082 VHL Null (Partial deletion of Exon 1) Other -1951 VHL Null (Partial deletion of Exon 2) Other -1952 VHL Null (Partial deletion of Exon 3) Other -2083 VHL Null (Partial deletion of Exons 1 & 2) Other -2036 VHL Null (Partial deletion of Exons 2 & 3) Other -2103 VHL Null (Partial deletion) Gene Function -3361 VHL Null (del one VHL allele) Gene Function -3180 VHL Null (deletion) Gene Function -3188 VHL Null (large 3' deletion) Gene Function -3262 VHL Null (point mutation codon 238) Gene Function -3296 VHL Null (rearrangement) Other -2974 JAK2 OFD1::JAK2 Fusion -21 CCND2 OVEREXPRESSION Expression -205 NCOA3 OVEREXPRESSION Expression -296 RIT1 OVEREXPRESSION Expression -305 SYK OVEREXPRESSION Expression -345 SPHK1 OVEREXPRESSION Expression -348 PBK OVEREXPRESSION Expression -359 AR OVEREXPRESSION Expression -378 PTP4A3 OVEREXPRESSION Expression -396 JAK1 OVEREXPRESSION Expression -434 HIF1A OVEREXPRESSION Expression -440 PTTG1 OVEREXPRESSION Expression -796 RRM2 OVEREXPRESSION Expression -1299 MERTK OVEREXPRESSION Expression -2362 PIK3CA OVEREXPRESSION Expression -2419 NR2F2 OVEREXPRESSION Expression -2586 PARP1 OVEREXPRESSION Expression -2917 LYN OVEREXPRESSION Expression -2981 WDR12 OVEREXPRESSION Expression -2982 PLK1 OVEREXPRESSION Expression -3112 PALB2 Oncogenic Mutations (loss of function alterations) Other -3113 ATM Oncogenic Mutations (loss of function alterations) Other -20 CCND1 Overexpression Expression -24 CCNE1 Overexpression Expression -152 BCL2 Overexpression Expression -156 IGF2 Overexpression Expression -181 AURKA Overexpression Expression -193 EGFR Overexpression Expression -289 ERBB3 Overexpression Expression -290 NT5E Overexpression Expression -291 EZH2 Overexpression Expression -292 MYD88 Overexpression Expression -325 FGFR3 Overexpression Expression -346 CASP8 Overexpression Expression -347 TYMS Overexpression Expression -377 TIMP1 Overexpression Expression -408 ABCC10 Overexpression Expression -435 EPAS1 Overexpression Expression -472 ALDH1A2 Overexpression Expression -481 DDX43 Overexpression Expression -483 TBK1 Overexpression Expression -486 HAVCR2 Overexpression Expression -525 B4GALT1 Overexpression Expression -529 SIRT1 Overexpression Expression -539 PTPN11 Overexpression Expression -547 RB1 Overexpression Expression -578 BIRC5 Overexpression Expression -597 RET Overexpression Expression -602 CDK6 Overexpression Expression -603 FLT3 Overexpression Expression -607 ESR1 Overexpression Expression -619 PTGS2 Overexpression Expression -621 MET Overexpression Expression -639 JUN Overexpression Expression -640 FOS Overexpression Expression -653 ETV4 Overexpression Expression -693 SGK1 Overexpression Expression -795 RRM1 Overexpression Expression -858 CSF1 Overexpression Expression -859 ROS1 Overexpression Expression -860 NTRK1 Overexpression Expression -866 MITF Overexpression Expression -869 YAP1 Overexpression Expression -875 ERBB2 Overexpression Expression -1256 TERT Overexpression Expression -1259 AEBP1 Overexpression Expression -1273 CTAG1B Overexpression Expression -1274 CTAG2 Overexpression Expression -1279 BRD4 Overexpression Expression -1301 AKT3 Overexpression Expression -1303 MYC Overexpression Expression -1306 TP53 Overexpression Expression -1693 CHEK1 Overexpression Expression -1877 ETV1 Overexpression Expression -1878 ETV5 Overexpression Expression -2167 FGFR4 Overexpression Expression -2204 KDR Overexpression Expression -2239 TPT1 Overexpression Expression -2360 AKT1 Overexpression Expression -2363 PIK3R2 Overexpression Expression -2410 ERCC1 Overexpression Expression -2417 FGFR2 Overexpression Expression -2578 NOTCH3 Overexpression Expression -2584 CDK9 Overexpression Expression -2585 VEGFA Overexpression Expression -2588 EPOR Overexpression Expression -2635 ALK Overexpression Expression -2636 CDK4 Overexpression Expression -2679 WEE1 Overexpression Expression -2717 PSMD4 Overexpression Expression -2739 CRLF2 Overexpression Expression -2784 FGF19 Overexpression Expression -2808 WNT11 Overexpression Expression -2904 FGFR1 Overexpression Expression -2908 TACSTD2 Overexpression Expression -2911 IL6 Overexpression Expression -2915 ABCB1 Overexpression Expression -2944 PDGFRA Overexpression Expression -2955 STAT1 Overexpression Expression -2970 VEGFC Overexpression Expression -2973 PDGFRB Overexpression Expression -2978 MIR21 Overexpression Expression -2980 IL33 Overexpression Expression -2985 CCN2 Overexpression Expression -3006 FOXC2 Overexpression Expression -3007 ZEB1 Overexpression Expression -3008 CUL7 Overexpression Expression -3139 MECOM Overexpression Expression -3243 ACTL6A Overexpression Expression -3249 MYCN Overexpression Expression -3259 IGF1R Overexpression Expression -3277 ZHX2 Overexpression Expression -3279 HDAC2 Overexpression Expression -3306 HDAC9 Overexpression Expression -3307 FOXF1 Overexpression Expression -3568 JAK2 Overexpression Expression -3569 STAT5B Overexpression Expression -3598 DDR2 Overexpression Expression -3599 HDAC6 Overexpression Expression -3646 HOXC10 Overexpression Expression -3728 SLC29A1 Overexpression Expression -3731 KIT Overexpression Expression -3732 HSP90B1 Overexpression Expression -3733 KRAS Overexpression Expression -3734 COX2 Overexpression Expression -3735 BRAF Overexpression Expression -3746 CCNE2 Overexpression Expression -4237 AURKB Overexpression Expression -4297 FGFR1 Overexpression Expression -3415 AR Overexpression of AR-V9 Expression -3324 VEGFA Overexpression of VEGF121 Expression -3325 VEGFA Overexpression of VEGF121 and VEGF110 Expression -2375 ABL1 P-Loop Mutation Region Defined Variant -1682 ARID1A P1175FS*5 Protein Consequence -2495 VHL P138fs (c.410dup) Copy Number -2732 TP53 P153 Protein Consequence -207 NOTCH1 P2514FS Protein Consequence -2726 TP53 P278 Protein Consequence -2350 CRLF2 P2RY8::CRLF2 Fusion -756 MLH1 P536FS Protein Consequence -4224 AKT1 P68-C77dup Copy Number -41 ERBB2 P780INS Rearrangements -477 BRCA1 P968FS Protein Consequence -3525 ABL2 PAG1::ABL2 Fusion -286 BRAF PAPSS1::BRAF Fusion -2582 FOXO1 PAX3::FOXO1 Fusion -2861 JAK2 PAX5::JAK2 Fusion -2583 FOXO1 PAX7::FOXO1 Fusion -209 PAX8 PAX8::PPARG Fusion -571 JAK2 PCM1::JAK2 Fusion -2289 NTRK1 PDE4DIP::NTRK1 Fusion -387 EIF4EBP1 PHOSPHORYLATION Epigenetic Modification -395 RPS6 PHOSPHORYLATION Epigenetic Modification -632 RB1 PHOSPHORYLATION Epigenetic Modification -108 PML PML::RARA Fusion -3025 PML PML::RARA A216T Fusion -462 PML PML::RARA A216V Fusion -463 PML PML::RARA L218P Fusion -3024 PML PML::RARA S214L Fusion -2848 JAK2 PPFIBP1::JAK2 Fusion -617 BRAF PPFIBP2::BRAF Fusion -3235 PRKAR1A PRKAR1A LOH, allelic imbalance 17q Genotypes Compound -22 CCND2 PROMOTER DEMETHYLATION Epigenetic Modification -2254 DBI PROMOTER DEMETHYLATION Epigenetic Modification -711 KLLN PROMOTER METHYLATION Epigenetic Modification -2916 PRPS1 PRPS1 MUTATION Region Defined Variant -2683 PTK2B PTK2B::KDM6A Fusion -2684 PTK2B PTK2B::STAG2 Fusion -2184 VHL Partial deletion of 0.7 Kb Region Defined Variant -4200 VHL Partial deletion of 0.8 kb Region Defined Variant -2185 VHL Partial deletion of 1 Kb Region Defined Variant -2186 VHL Partial deletion of 1.2 Kb Region Defined Variant -2187 VHL Partial deletion of 1.5 Kb Region Defined Variant -3999 VHL Partial deletion of 10 Kb Region Defined Variant -2188 VHL Partial deletion of 11 Kb Region Defined Variant -2189 VHL Partial deletion of 12 Kb Region Defined Variant -3095 VHL Partial deletion of 2 Kb Region Defined Variant -2191 VHL Partial deletion of 3 Kb Region Defined Variant -2190 VHL Partial deletion of 3.5 Kb Region Defined Variant -2492 VHL Partial deletion of 4 Kb Region Defined Variant -2193 VHL Partial deletion of 7 Kb Region Defined Variant -2192 VHL Partial deletion of 7.5 Kb Region Defined Variant -2194 VHL Partial deletion of 8.2 Kb Region Defined Variant -3466 NTRK1 Point Mutations Other -3467 NTRK3 Point Mutations Other -27 CDKN2A Promoter Hypermethylation Epigenetic Modification -333 PTPRT Promoter Hypermethylation Epigenetic Modification -374 NAPRT Promoter Hypermethylation Epigenetic Modification -85 MGMT Promoter Methylation Epigenetic Modification -220 TERT Promoter Mutation Region Defined Variant -127 U2AF1 Q157P/R Protein Consequence -507 GNAQ Q209 Protein Consequence -558 GNA11 Q209 Protein Consequence -744 MLH1 Q426FS Protein Consequence -3326 FLT3 Q575Δ Other -94 NRAS Q61 Protein Consequence -203 KRAS Q61 Protein Consequence -2570 HRAS Q61 Protein Consequence -1105 KRAS Q61FS Protein Consequence -4000 RAF1 QKI-RAF1 Fusion -3029 BCL2 R107_R110dup Copy Number -2021 VHL R108dup (c.322_324dup) Copy Number -58 IDH1 R132 Protein Consequence -804 RUNX1 R135FSX177 Protein Consequence -62 IDH2 R140 Protein Consequence -199 IDH2 R172 Protein Consequence -876 GNAS R201 Protein Consequence -2723 TP53 R248 Protein Consequence -119 TP53 R249 Protein Consequence -2725 TP53 R273 Protein Consequence -2597 DICER1 R392fs and E1813D Protein Consequence -735 MLH1 R687FS Protein Consequence -1165 ATM R777FS Protein Consequence -3411 TEK R849W and R1108* Protein Consequence -32 DNMT3A R882 Protein Consequence -3268 ABL1 RANBP2::ABL1 Fusion -514 ALK RANBP2::ALK Fusion -3116 RBM15 RBM15::MKL1 Fusion -3207 MET RBPMS::MET Fusion -2681 ABL1 RCSD1::ABL1 Fusion -2891 RCSD1 RCSD1::ABL1 Fusion -3526 ABL2 RCSD1::ABL2 Fusion -3527 CSF1R RCSD1::ABL2 Fusion -2865 JAK2 RFX3::JAK2 Fusion -332 FNTB RS11623866 Other -338 MGMT RS16906252 Other -643 CBLB RS2305035 Other -421 TERT RS2736100 Other -699 SH2B3 RS3184504 Other -779 TYMS RS34743033 Other -642 MDM2 RS34886328 Other -482 KIT RS3733542 Other -641 CDKN2A RS3814960 Other -331 WEE1 RS3910384 Other -777 SLCO1B1 RS4149056 Other -445 ETS2 RS461155 Other -548 PPP1R15A RS557806 Other -254 KRAS RS61764370 Other -740 DPYD RS67376798 HOMOZYGOSITY Other -255 ERCC5 RS751402 Other -3126 RUNX1 RUNX1::RUNX1T1 Fusion -1863 EGFR Rare Exon 18-21 Mutation Region Defined Variant -2334 EGFR Rare Mutation Other -3222 PIK3CA Rare Mutation Other -269 ROS1 Rearrangement Rearrangements -2439 VHL Rearrangement Rearrangements -3141 KMT2A Rearrangement Rearrangements -4003 PDGFB Rearrangement Rearrangements -4338 CRLF2 Rearrangement Rearrangements -3080 VHL S139fs Protein Consequence -616 B2M S14FS Protein Consequence -2856 ROS1 S1986Y/F Protein Consequence -138 NOTCH1 S2275FS Protein Consequence -497 ERBB2 S310F/Y Protein Consequence -128 U2AF1 S34Y/F Protein Consequence -3257 AKT1 S473 Phosphorylation Epigenetic Modification -3329 FLT3 S574Δ Other -1676 FBXW7 S668FS*39 Protein Consequence -720 EGFR S720 Protein Consequence -1511 EGFR S768_D770dup Copy Number -451 ABCB1 S893A/T Protein Consequence -4253 NTRK1 SCP2::NTRK1 Fusion -2179 NRG1 SDC4::NRG1 Fusion -4251 EGFR SEC61G::EGFR Fusion -416 ERBB2 SERUM LEVELS Expression -487 MMP2 SERUM LEVELS Expression -488 MMP9 SERUM LEVELS Expression -3287 ABL1 SFPQ::ABL1 Fusion -411 STAT3 SH2 DOMAIN MUTATION Region Defined Variant -3986 SH3PXD2A SH3PXD2A::HTRA1 Fusion -2166 NRG1 SLC3A2::NRG1 Fusion -2975 JAK2 SMU1::JAK2 Fusion -536 SULT1E1 SNP Region Defined Variant -495 MDM2 SNP309 Protein Consequence -2976 JAK2 SNX29::JAK2 Fusion -2678 ABL1 SNX2::ABL1 Fusion -478 AR SPLICE VARIANT 7 Other -800 NTRK1 SQSTM1::NTRK1 Fusion -448 SSX1 SS18::SSX1 Fusion -449 SSX2 SS18::SSX2 Fusion -450 SSX4 SS18::SSX4 Fusion -3566 CSF1R SSBP2::CSF1R Fusion -2661 JAK2 SSBP2::JAK2 Fusion -2849 JAK2 STRN3::JAK2 Fusion -2218 ALK STRN::ALK Fusion -2287 NTRK2 STRN::NTRK2 Fusion -3108 VHL Single Allele Deletion Genotypes Compound -3409 TEK T1105N and T1106N Protein Consequence -810 RUNX1 T148HFSX9 Protein Consequence -491 HSPH1 T17 DELETION Region Defined Variant -2733 TP53 T170 Protein Consequence -385 PRKAA2 T172 PHOSPHORYLATION Epigenetic Modification -1298 BRAF T599dup Copy Number -3517 ZNF384 TAF15::ZNF384 Fusion -3359 CSF1R TBL1XR1::CSF1R Fusion -2862 JAK2 TERF2::JAK2 Fusion -3730 TFE3 TFE3 fusion Fusion -4074 TFEB TFEB amplification Copy Number -576 ROS1 TFG::ROS1 Fusion -2669 TGFBR3 TGFBR3 Protein Consequence -56 FLT3 TKD MUTATION Gene Function -2371 ABL1 TKD MUTATION Gene Function -3128 TLX3 TLX3::BCL11B Fusion -195 ERG TMPRSS2::ERG Fusion -707 TMPRSS2 TMPRSS2::ERG Fusion -3473 TNC TNC-L Expression -774 PDGFRA TNKS2::PDGFRA Fusion -3486 TOP2A TOP2A/90 Other -2992 NTRK1 TPM3::NTRK1 Fusion -2850 JAK2 TPR::JAK2 Fusion -3465 NTRK1 TPR::NTRK1 Fusion -287 BRAF TRIM24::BRAF Fusion -2393 NTRK1 TRIM63::NTRK1 Fusion -739 FOS TRUNCATING FUSION Fusion -590 BIRC3 TRUNCATING MUTATION Protein Consequence -708 BRCA2 TRUNCATING MUTATION Protein Consequence -3110 CREBBP TRUNCATING MUTATIONS AND DELETERIOUS SUBSTITUTIONS Protein Consequence -4026 FGFR2 Translocation Rearrangements -4027 FGFR3 Translocation Rearrangements -223 TP53 Truncating Mutation Protein Consequence -729 UGT1A1 UGT1A1*28 Genotypes Easy -732 UGT1A1 UGT1A1*60 Genotypes Easy -417 THBS2 UNDEREXPRESSION Expression -441 LEPR UNDEREXPRESSION Expression -446 KRT18 UNDEREXPRESSION Expression -498 MIR218-1 UNDEREXPRESSION Expression -2418 SPRY2 UNDEREXPRESSION Expression -2863 JAK2 USP25::JAK2 Fusion -179 ATM Underexpression Expression -282 SMAD4 Underexpression Expression -304 STK11 Underexpression Expression -349 SMARCA4 Underexpression Expression -382 TYMS Underexpression Expression -403 BRCA1 Underexpression Expression -422 STAG2 Underexpression Expression -473 ALDH1A2 Underexpression Expression -475 CIP2A Underexpression Expression -648 ATRX Underexpression Expression -654 STAG3 Underexpression Expression -695 SMARCB1 Underexpression Expression -867 MTAP Underexpression Expression -868 VPS37A Underexpression Expression -1255 MGMT Underexpression Expression -1257 RRM1 Underexpression Expression -2108 ARID1A Underexpression Expression -2164 CX3CL1 Underexpression Expression -2384 PBLD Underexpression Expression -2386 ERRFI1 Underexpression Expression -2392 PTPN6 Underexpression Expression -2409 ERCC1 Underexpression Expression -2412 FGFR2 Underexpression Expression -3459 AR V1 expression Expression -1167 ATM V1268FS Protein Consequence -750 MLH1 V213FS Protein Consequence -137 NOTCH1 V2444FS Protein Consequence -762 MSH2 V273FS Protein Consequence -605 PTEN V317FS Protein Consequence -1316 KIT V559 Protein Consequence -3461 AR V567es expression Expression -17 BRAF V600 Protein Consequence -2820 BRAF V600_K601>E Rearrangements -2821 BRAF V600_S602>DT Rearrangements -362 AR V7 EXPRESSION Expression -1310 ERBB2 V773 Protein Consequence -2159 AR V9 EXPRESSION Expression -3729 TFE3 VCF::TFE3 Fusion -3701 NTRK2 VCL::NTRK2 Fusion -3303 CHD7 VCV000625197, Translocation (t(8;X)(q12.2;p22.13)), CHD7–BEND2 fusion Other -3321 VEGFA VEGF165b Overexpression Expression -312 EGFR VIII Gene Function -4242 EGFR VOPP1::EGFR Fusion -2027 VHL W117fs (c.349dup) Copy Number -2728 TP53 W146 Protein Consequence -87 NPM1 W288FS Protein Consequence -176 AR W742 Protein Consequence -2299 VHL W88fs (c.261dup) Copy Number -2228 BRAF WASFL::BRAF Fusion -426 BRAF WILD TYPE Genotypes Easy -2366 PTEN WILD TYPE Genotypes Easy -2651 KIT WILDTYPE Genotypes Easy -742 WWTR1 WWTR1::CAMTA1 Fusion -369 TP53 Wildtype Genotypes Easy -2174 EGFR Wildtype Genotypes Easy -2590 PIK3CA Wildtype Genotypes Easy -3200 KRAS Wildtype Genotypes Easy -390 EGFR Y1092 PHOSPHORYLATION Epigenetic Modification -245 NF2 Y177fs Protein Consequence -2720 TP53 Y205 Protein Consequence -3327 FLT3 Y572Δ Other -165 EZH2 Y646 Protein Consequence -3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V Protein Consequence -3055 FLT3 Y693 Protein Consequence -1672 EGFR Y69FS*11 Protein Consequence -414 ERBB2 Y772_A775DUP Copy Number -3410 TEK Y897C and R915C Protein Consequence -3578 ABL2 ZC3HAV1::ABL2 Fusion -657 BRAF ZKSCAN1::BRAF Fusion -3269 ABL1 ZMIZ1::ABL1 Fusion -466 FGFR1 ZNF198::FGFR1 Fusion -2864 JAK2 ZNF274::JAK2 Fusion -2977 JAK2 ZNF430::JAK2 Fusion -3481 ESR2 alternative transcripts Other -3477 ESR2 beta-2 and beta-5 Other -3511 CD19 delta-ex2, delta-ex5-6 Other -3487 BRCA1 delta11q Other -3482 LGR5 delta5 Other -2349 IL7R exon 6 mutations Region Defined Variant -3752 SSTR5 expression Expression -2807 BRCA1 gBRCAm Other -2226 BRAF intron 10 rearrangement Rearrangements -2225 BRAF intron 9 rearrangement Rearrangements -2814 DRD5 low expression Expression -3323 VEGFA low ratio of VEGF165b/VEGFtotal Expression -2845 HOXD8 mutation Region Defined Variant -3322 VEGFA overexpression of VEGF-Axxxa Expression -2411 SDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC) Copy Number -3057 GATA1 p.Ser51Alafs*86 Protein Consequence -272 CDKN2A p16 Expression Expression -3512 BRAF p61BRAF(V600E) Genotypes Easy -3313 CDKN1A rs1059234 Other -2787 PRNCR1 rs1456315 Other -256 KIT rs17084733 Other -2671 CDKN1A rs1801270 Other -3314 CDKN1A rs1801270 and rs1059234 Other -705 GADD45A rs681673 Other -3703 GALNT14 rs9679162 Other -4284 VHL t(1;3)(p36.3;p25) Rearrangements -2429 VHL t(1;3)(q32;q13.3) Rearrangements -2876 VHL t(2;3)(q35;q21) Rearrangements -3265 VHL t(3;12)(q13.13;q24.23) Rearrangements -4009 VHL t(3;12)(q13.2;q24.1) Rearrangements -3524 MECOM t(3;21)(q26.2;q22) Rearrangements -3264 VHL t(3;6)(p12.3;q24.3) Rearrangements -4008 VHL t(3;6)(p13;q25.1) Rearrangements -3351 VHL t(3;8)(p13;q24.1) Rearrangements -3478 ESR2 underexpression beta-1 Other -3508 CD274 v242 Protein Consequence -2422 NTRK3 ~DEPRECATED-ETV6-NTRK3 Other -2748 ETV6 ~DEPRECATED-ETV6::NTRK3 FUSION Other -2718 CCNE1 ｍRNA expression low Expression +variant_id gene_name variant_name category variant_accepted +4188 VHL 10kb Deletion Region Defined Variant False +785 CHEK2 1100DELC Protein Consequence True +2438 VHL 235 (CAG-TAG) Other False +4186 VHL 2kb Deletion Region Defined Variant False +823 EPCAM 3' Exon Deletion Region Defined Variant True +253 EGFR 3' UTR MUTATION Region Defined Variant False +433 HIF1A 3' UTR Polymorphism Region Defined Variant True +2367 VHL 3p26.3-25.3 11Mb del Region Defined Variant True +265 TYMS 5' TANDEM REPEAT Other True +2390 MAP2K1 56_61QKQKVG>R Rearrangements False +4187 VHL 5kb Deletion Region Defined Variant False +2727 ERBB2 A129 Protein Consequence False +2729 TP53 A129 Protein Consequence False +2979 KRAS A146 Protein Consequence True +3195 VHL A149fs (c.444dup) Copy Number False +2144 VHL A56fs (c.166dup) Copy Number True +1579 EGFR A767_V769dupASV Copy Number True +780 GLI1 ACTB::GLI1 Fusion True +3702 NTRK2 AFAP1::NTRK2 Fusion True +2577 PDGFRB AGGF1::PDGFRB C843G Fusion False +285 BRAF AGK::BRAF Fusion True +184 BRAF AKAP9::BRAF Fusion True +552 ALK ALK Fusion G1269A Fusion True +1307 TP53 ALTERATION Region Defined Variant True +2211 BAP1 ALTERNATIVE TRANSCRIPT (ATI) Other True +842 BRAF APC Other False +2772 NRG1 APP::NRG1 Fusion True +3460 AR AR alternative transcripts Other False +3622 TFE3 ASPSCR1::TFE3 Fusion False +2846 JAK2 ATF7IP::JAK2 Fusion True +2632 PDGFRB ATF7IP::PDGFRB Fusion False +2758 BRCA1 ATM Other False +2178 NRG1 ATP1B1::NRG1 Fusion True +309 EGFR AUTOCRINE ACTIVATION Expression False +1296 CTNNB1 Activating Mutation Gene Function True +2649 KRAS Activating Mutation Gene Function False +2657 ERBB2 Activating Mutation Gene Function False +3737 EZH2 Activating Mutation Gene Function True +839 ALK Alternative Transcript (ATI) Other True +3510 BCL2L11 Alternative splicing Other False +709 BRCA1 Alu insertion Rearrangements True +461 PML B2 DOMAIN MUTATION Region Defined Variant True +3312 FGFR1 BAG4::FGFR1 Fusion False +3251 BCOR BCOR::CCNB3 Fusion False +1 ABL1 BCR::ABL Fusion True +1607 ABL1 BCR::ABL A365V Fusion False +1608 ABL1 BCR::ABL A366G Fusion False +1612 ABL1 BCR::ABL A397P Fusion True +1027 ABL1 BCR::ABL D276G Fusion True +2900 ABL1 BCR::ABL D363G Fusion True +1532 ABL1 BCR::ABL D421G Fusion True +3 ABL1 BCR::ABL E255K Fusion True +2890 ABL1 BCR::ABL E255K V299L Fusion True +1173 ABL1 BCR::ABL E255V Fusion True +1526 ABL1 BCR::ABL E279K Fusion True +2886 ABL1 BCR::ABL E279K Fusion True +2887 ABL1 BCR::ABL E292L Fusion True +1183 ABL1 BCR::ABL E292V Fusion True +1487 ABL1 BCR::ABL E355G Fusion True +2948 ABL1 BCR::ABL E450Q Fusion True +1534 ABL1 BCR::ABL E450V Fusion True +1536 ABL1 BCR::ABL E453A Fusion True +1535 ABL1 BCR::ABL E453K Fusion True +1509 ABL1 BCR::ABL E453Q Fusion True +2370 ABL1 BCR::ABL E459K Fusion True +2901 ABL1 BCR::ABL E98G Fusion True +1507 ABL1 BCR::ABL F311I Fusion True +1528 ABL1 BCR::ABL F311L Fusion True +2358 ABL1 BCR::ABL F311V Fusion False +2359 ABL1 BCR::ABL F317C Fusion True +1625 ABL1 BCR::ABL F317I Fusion True +241 ABL1 BCR::ABL F317L Fusion True +2888 ABL1 BCR::ABL F317R Fusion True +2343 ABL1 BCR::ABL F317S Fusion True +1525 ABL1 BCR::ABL F317V Fusion True +1184 ABL1 BCR::ABL F359C Fusion True +1523 ABL1 BCR::ABL F359I Fusion True +892 ABL1 BCR::ABL F359V Fusion True +1152 ABL1 BCR::ABL F486S Fusion True +1023 ABL1 BCR::ABL G250E Fusion True +1233 ABL1 BCR::ABL G398R Fusion True +1531 ABL1 BCR::ABL H396P Fusion True +1030 ABL1 BCR::ABL H396R Fusion True +1533 ABL1 BCR::ABL I432T Fusion False +2340 ABL1 BCR::ABL L248R Fusion True +2889 ABL1 BCR::ABL L248R and F359I Fusion True +1022 ABL1 BCR::ABL L248V Fusion True +2902 ABL1 BCR::ABL L364I Fusion True +1530 ABL1 BCR::ABL L364P Fusion True +1230 ABL1 BCR::ABL L384M Fusion True +1232 ABL1 BCR::ABL L387F Fusion True +1488 ABL1 BCR::ABL L387M Fusion True +1021 ABL1 BCR::ABL M244V Fusion True +2949 ABL1 BCR::ABL M244V and L364I Fusion True +1524 ABL1 BCR::ABL M343T Fusion True +1029 ABL1 BCR::ABL M351T Fusion True +2954 ABL1 BCR::ABL M388L Fusion True +2951 ABL1 BCR::ABL N146S Fusion True +1529 ABL1 BCR::ABL N331S Fusion True +1640 ABL1 BCR::ABL N336S Fusion True +2950 ABL1 BCR::ABL N49S Fusion False +1537 ABL1 BCR::ABL P480A Fusion True +1024 ABL1 BCR::ABL Q252H Fusion True +1600 ABL1 BCR::ABL Q252R Fusion False +1527 ABL1 BCR::ABL Q300R Fusion True +1613 ABL1 BCR::ABL S417Y Fusion True +2953 ABL1 BCR::ABL S438C Fusion True +2335 ABL1 BCR::ABL T315A Fusion True +2 ABL1 BCR::ABL T315I Fusion True +2885 ABL1 BCR::ABL T315V Fusion True +2903 ABL1 BCR::ABL V186A Fusion False +2952 ABL1 BCR::ABL V298I Fusion True +1231 ABL1 BCR::ABL V299L Fusion True +1609 ABL1 BCR::ABL V379I Fusion True +1026 ABL1 BCR::ABL Y253F Fusion True +2909 ABL1 BCR::ABL Y253F Fusion True +1025 ABL1 BCR::ABL Y253H Fusion True +2860 JAK2 BCR::JAK2 Fusion True +2971 PDGFRA BCR::PDGFRA Fusion True +594 CEBPA BIALLELIC INACTIVATION Other True +656 BRAF BRAF::CUL1 Fusion True +719 BRD4 BRD4::NUTM1 Fusion True +532 PALB2 Biallelic Inactivation Other True +2391 MAP2K1 C121S and G128D Protein Consequence False +2132 VHL C77fs (c.228dup) Copy Number True +2769 ALK CAD::ALK Fusion True +2630 CBFA2T3 CBFA2T3::GLIS2 Fusion False +431 CBFB CBFB::MYH11 Fusion True +626 RET CCDC6::RET Fusion True +3385 CD44 CD44s Expression False +341 CD44 CD44s Expression Expression True +3386 CD44 CD44v5 and CD44v6 Expression False +3373 CD44 CD44v6 Other True +3388 CD44 CD44v6 and CD44v10 Expression False +3387 CD44 CD44v6+/CD44s- Expression False +3369 CD44 CD44v8-10 Expression False +3368 CD44 CD44v9 Other False +3367 CD44 CD4v8-v10 and CD44v3-v10 Expression False +2771 NRG1 CD74::NRG1 Other False +465 ROS1 CD74::ROS1 G2032R Other True +518 ROS1 CD74::ROS1 G2101A Other True +516 ROS1 CD74::ROS1 L2026M Other True +517 ROS1 CD74::ROS1 L2155S Other True +3474 CEACAM1 CEACAM1-L Other False +3475 CEACAM1 CEACAM1-S Other False +3270 ABL1 CENPC::ABL1 Fusion True +3252 CIC CIC::DUX4 Fusion False +3987 CIC CIC::LEUTX Fusion False +520 ALK CLTC::ALK Fusion True +3991 PDGFB COL1A1-PDGFB fusion Fusion True +2972 PDGFB COL1A1::PDGFB Fusion True +1300 TP53 CONSERVED DOMAIN MUT Other True +821 HLA-C COPY-NEUTRAL LOSS OF HETEROZYGOSITY Genotypes Compound True +599 CTLA4 CTLA4::CD28 Fusion True +2229 BRAF CUX1::BRAF Fusion True +447 FGF13 CYTOPLASMIC EXPRESSION Expression True +1283 CDK2 CYTOPLASMIC EXPRESSION Expression False +360 CDKN1B CYTOPLASMIC MISLOCALIZATION Other True +3408 TEK Cis double mutants Other False +2800 BRAF Class 2 Mutations Other False +2801 BRAF Class 3 Mutations Other False +191 EGFR Copy Number Variation Copy Number True +2734 TP53 D184 Protein Consequence False +2767 BRAF D594 Protein Consequence False +746 MLH1 D667FS Protein Consequence True +437 FLT3 D835 Protein Consequence True +3231 FLT3 D835 & I836 Protein Consequence False +613 FLT3 D835H/Y Protein Consequence True +943 PDGFRA D842_H845DELDIMH Rearrangements True +2394 NTRK1 DDR2::NTRK1 Fusion True +2706 DEK DEK::AFF2 Fusion False +522 BRAF DEL 485-490 Region Defined Variant True +954 KIT DEL 554-558 Region Defined Variant False +647 LRP1B DELETION Gene Function True +3023 PML DELETION (p.K227_T233del) Protein Consequence False +1663 BRAF DELNVTAP Other False +2685 DGKH DGKH::ZFAND3 Fusion False +242 TP53 DNA Binding Domain Mutation Region Defined Variant True +31 PRKACA DNAJB1::PRKACA Fusion True +738 DPYD DPYD*13 HOMOZYGOSITY Genotypes Compound True +737 DPYD DPYD*2A HOMOZYGOSITY Genotypes Compound True +2589 DUX4 DUX4::IGH Fusion False +3509 AIMP2 DX2 Protein Consequence False +334 VEGFA Decreased Peri-therapeutic Expression Expression True +221 TP53 Deleterious Mutation Region Defined Variant True +200 IKZF1 Deletion Gene Function True +213 PTEN Deletion Gene Function True +250 GSTP1 Deletion Gene Function True +646 SMAD4 Deletion Gene Function True +696 SMARCB1 Deletion Gene Function True +856 CREBBP Deletion Gene Function False +1982 SUFU Deletion Gene Function False +1983 PTCH1 Deletion Gene Function False +2654 CDKN2A Deletion Gene Function True +2932 VHL Deletion Gene Function True +3309 ATRX Deletion Gene Function True +4314 CDKN2B Deletion Gene Function False +4316 PAX5 Deletion Gene Function False +4317 ERG Deletion Gene Function False +526 BCL2L11 Deletion Polymorphism Region Defined Variant True +3009 ABL1 Double Ph Rearrangements True +725 MLH1 E13fs Protein Consequence True +2994 MAEA E151INT Other False +2591 DICER1 E1813 mutations Protein Consequence False +572 MTOR E2014K and E2419K Protein Consequence True +2730 TP53 E204 Protein Consequence False +763 MSH2 E28FS Protein Consequence True +2763 PIK3CA E545 Protein Consequence True +3328 FLT3 E573Δ Other False +1544 FLT3 E611_F612INS25 Protein Consequence False +2258 EGFR E709A and G719C Protein Consequence False +2256 EGFR E709K and G719A Protein Consequence False +1577 EGFR E709_T710>D Rearrangements False +1635 EGFR E746_A750>IP Rearrangements False +1433 EGFR E746_S752>A Rearrangements False +1003 EGFR E746_T751>I Rearrangements True +2847 JAK2 EBF1::JAK2 Fusion True +535 PDGFRB EBF1::PDGFRB Fusion True +3484 FN1 EDB Other False +4294 EGFR EGFR::BRAF Fusion False +4283 EGFR EGFR::PPARGC1A Fusion False +4282 EGFR EGFR::PURB Fusion False +2203 EGFR EGFR::RAD51 Fusion True +4241 EGFR EGFR::SEPT14 Fusion False +4343 EGFR EGFR::VSTM2A Fusion False +4344 EGFR EGFR::WIF1 Fusion False +5 ALK EML4::ALK Fusion True +528 ALK EML4::ALK V1180L Fusion True +6 ALK EML4::ALK C1156Y Fusion True +2813 ALK EML4::ALK G1202del Fusion False +308 ALK EML4::ALK G1269A Fusion True +589 ALK EML4::ALK I1171S Fusion True +7 ALK EML4::ALK L1196M Fusion True +172 ALK EML4::ALK S1206Y Fusion True +173 ALK EML4::ALK T1151INST Fusion True +501 ALK EML4::ALK e2-e20 Fusion True +500 ALK EML4::ALK e20-e20 Fusion True +3204 ALK EML4::ALK e6-e19 G1269A and Amplification Fusion False +503 ALK EML4::ALK e6-e20 Fusion True +4020 EML4 EML4::NTRK3 Fusion False +4299 NTRK3 EML4::NTRK3 Fusion False +2750 ALK EML6::ALK e1-e20 and FBXO11::ALK e1-e20 Fusion False +4075 EML6 EML6::NTRK3 Fusion False +2670 EPHB2 EPHB2 Protein Consequence False +4308 ALK ERC1::ALK Fusion False +2575 ABL1 ETV6::ABL1 Fusion True +2859 JAK2 ETV6::JAK2 Fusion True +3700 NTRK1 ETV6::NTRK1 Fusion True +2396 NTRK2 ETV6::NTRK2 Fusion True +801 NTRK3 ETV6::NTRK3 Fusion True +805 NTRK3 ETV6::NTRK3 G623R Fusion True +3140 ETV6 ETV6::RUNX1 Fusion False +4005 EWSR1 EWSR1-ERG Fusion False +3054 EWSR1 EWSR1::ATF1 Fusion False +717 DDIT3 EWSR1::DDIT3 Fusion True +194 ERG EWSR1::ERG Fusion True +706 EWSR1 EWSR1::FLI1 Fusion True +164 FLI1 EWSR1::FLI1 e7-e6 Fusion True +2385 EWSR1 EWSR1::NR4A3 Fusion False +2941 EWSR1 EWSR1::WT1 Fusion False +2472 VHL EXON 1-2 DELETION and BRK1 DELETION Region Defined Variant False +303 STK11 EXON 1-2 MUTATION Region Defined Variant True +2893 DPYD EXON 11-19 DELETION Region Defined Variant True +86 NPM1 EXON 12 MUTATION Region Defined Variant True +557 ASXL1 EXON 12 MUTATION Region Defined Variant True +266 LRP1B EXON 12-22 DELETION Region Defined Variant True +464 MET EXON 14 MUTATION and AMPLIFICATION Region Defined Variant True +74 KRAS EXON 2 Mutations Region Defined Variant False +1940 VHL EXON 2-3 DELETION Region Defined Variant True +559 CALR EXON 9 FRAMESHIFT Other True +25 CDK4 EXPRESSION Expression True +57 GATA2 EXPRESSION Expression True +158 AURKA EXPRESSION Expression True +182 BAP1 EXPRESSION Expression True +278 AKT2 EXPRESSION Expression True +316 TGFA EXPRESSION Expression True +318 EREG EXPRESSION Expression True +319 EFNA2 EXPRESSION Expression False +326 CBLC EXPRESSION Expression True +328 DEFA1 EXPRESSION Expression True +335 DNMT1 EXPRESSION Expression True +337 PDCD4 EXPRESSION Expression True +339 TFF3 EXPRESSION Expression True +342 EGF EXPRESSION Expression True +343 MDM2 EXPRESSION Expression True +344 HMOX1 EXPRESSION Expression True +355 CDKN1A EXPRESSION Expression True +356 ALCAM EXPRESSION Expression True +357 STMN1 EXPRESSION Expression True +361 ERBB3 EXPRESSION Expression True +363 UGT1A EXPRESSION Expression True +365 ERBB4 EXPRESSION Expression True +366 SLFN11 EXPRESSION Expression True +372 CDKN1B EXPRESSION Expression True +373 AGR2 EXPRESSION Expression True +380 IGF1R EXPRESSION Expression True +381 EPHB4 EXPRESSION Expression True +383 TOP2A EXPRESSION Expression True +384 TOP1 EXPRESSION Expression True +386 HSPA5 EXPRESSION Expression True +389 TUBB3 EXPRESSION Expression True +392 CFLAR EXPRESSION Expression True +393 PROM1 EXPRESSION Expression True +394 FOXP3 EXPRESSION Expression True +398 DUSP6 EXPRESSION Expression True +400 HSPB1 EXPRESSION Expression True +401 NQO1 EXPRESSION Expression True +405 CXCR4 EXPRESSION Expression True +406 MAGEH1 EXPRESSION Expression True +410 CDX2 EXPRESSION Expression True +412 POU5F1 EXPRESSION Expression True +423 HLA-DRA EXPRESSION Expression True +429 KIT EXPRESSION Expression True +444 NEDD9 EXPRESSION Expression True +474 CIP2A EXPRESSION Expression True +476 MIR218-1 EXPRESSION Expression True +492 ECSCR EXPRESSION Expression True +493 ROBO4 EXPRESSION Expression True +537 RB1 EXPRESSION Expression True +546 ACTA1 EXPRESSION Expression True +624 MKI67 EXPRESSION Expression True +625 RAD23B EXPRESSION Expression True +651 AXL EXPRESSION Expression True +652 GAS6 EXPRESSION Expression True +660 HIF1A EXPRESSION Expression True +662 MLH1 EXPRESSION Expression True +670 MYCL EXPRESSION Expression True +671 HGF EXPRESSION Expression True +673 FGF2 EXPRESSION Expression True +700 KIF23 EXPRESSION Expression True +857 NTRK3 EXPRESSION Expression False +1258 PTPRF EXPRESSION Expression False +1262 MDM4 EXPRESSION Expression False +1284 DCC EXPRESSION Expression True +2163 CTLA4 EXPRESSION Expression False +2207 PDCD1LG2 EXPRESSION Expression False +2208 LAG3 EXPRESSION Expression False +2594 ASCL1 EXPRESSION Expression False +2984 CXCL10 EXPRESSION Expression False +3042 CDK6 EXPRESSION Expression True +3330 TCF19 EXPRESSION Expression False +1854 EGFR Ex19 del L858R Region Defined Variant True +2870 VHL Exon 1 (Frameshift) Other False +844 VHL Exon 1 Deletion Region Defined Variant True +2465 VHL Exon 1 del (151nt) Region Defined Variant False +845 VHL Exon 1-2 Deletion Region Defined Variant True +843 VHL Exon 1-3 Deletion Region Defined Variant True +106 PIK3CA Exon 10 Mutation Region Defined Variant True +1991 PIK3CA Exon 10 and Exon 21 Mutation Region Defined Variant True +3311 PIK3CA Exon 10 or Exon 21 Mutation Region Defined Variant True +66 KIT Exon 11 Mutation Region Defined Variant True +2643 KIT Exon 13 Mutation Region Defined Variant True +69 KIT Exon 14 Mutation Region Defined Variant True +2778 MET Exon 14 Mutation Region Defined Variant False +324 MET Exon 14 Skipping Mutation Region Defined Variant True +2650 BRAF Exon 15 Mutation Region Defined Variant True +2623 PDGFRA Exon 18 Mutation Region Defined Variant True +375 EGFR Exon 18 Overexpression Other True +2257 EGFR Exon 18 deletion Region Defined Variant False +133 EGFR Exon 19 Deletion Region Defined Variant True +1938 VHL Exon 2 Deletion Region Defined Variant True +75 KRAS Exon 2 Mutation Region Defined Variant True +1971 VHL Exon 2-3 Deletion Region Defined Variant False +726 EGFR Exon 20 Insertion Other True +2854 ERBB2 Exon 20 Insertion Other True +105 PIK3CA Exon 21 Mutation Region Defined Variant True +1939 VHL Exon 3 Deletion Region Defined Variant True +1973 VHL Exon 3 Deletion Region Defined Variant False +2047 CTNNB1 Exon 3 Deletion Region Defined Variant False +2892 CTNNB1 Exon 3 Mutation Region Defined Variant True +3749 VHL Exon 3 Variant Region Defined Variant False +252 EGFR Exon 4 Deletion Region Defined Variant True +350 SETBP1 Exon 4 Mutation Region Defined Variant True +550 ALK Exon 4-11 Deletion Region Defined Variant True +129 WT1 Exon 7 Mutation Region Defined Variant True +130 WT1 Exon 9 Mutation Region Defined Variant True +509 KIT Exon 9 Mutation Region Defined Variant True +3100 VHL Exon Deletion Region Defined Variant False +19 CCND1 Expression Expression True +210 PGR Expression Expression True +268 FGFR1 Expression Expression True +276 CD274 Expression Expression True +313 PTEN Expression Expression True +314 NRG1 Expression Expression True +315 AREG Expression Expression True +329 ERCC1 Expression Expression True +354 EGFR Expression Expression True +376 ZEB1 Expression Expression True +397 BRCA1 Expression Expression True +533 SMAD4 Expression Expression True +683 PAX8 Expression Expression True +2209 DLL3 Expression Expression False +2595 HDAC2 Expression Expression False +2914 ALK Expression Expression False +2966 MGMT Expression Expression False +2993 CDK5 Expression Expression False +3014 CSF1R Expression Expression False +3319 BTK Expression Expression False +3320 BLK Expression Expression False +3992 STAT1 Expression Expression False +4336 FLT3LG Expression Expression False +2621 KIT F506_F508DUP Copy Number True +2158 VHL F76fs (c.222_225dup) Copy Number False +1912 VHL F76fs (c.223_224insT) Copy Number True +2656 BRAF FAM131B::BRAF Fusion False +2987 BRAF FAM73A::BRAF Fusion False +2743 FGFR1 FGFR1OP2::FGFR1 Fusion True +783 FGFR2 FGFR2::AHCYL1 Fusion True +782 FGFR2 FGFR2::BICC1 Fusion True +52 FGFR2 FGFR2::MGEA5 Fusion True +54 FGFR2 FGFR2::TACC3 Fusion True +53 FGFR3 FGFR3::BAIAP2L1 Fusion True +830 FGFR3 FGFR3::TACC3 Fusion True +574 PDGFRA FIP1L1::PDGFRA Fusion True +577 PDGFRA FIP1L1::PDGFRA T674I Fusion True +2682 ABL1 FOXP1::ABL1 Fusion True +667 MEN1 FRAMESHIFT TRUNCATION Protein Consequence True +722 DDIT3 FUS::DDIT3 Fusion True +3149 RELA FUSION Fusion False +428 MRE11 Frameshift Protein Consequence True +2812 MBD4 Frameshift Protein Consequence False +124 TSC1 Frameshift Truncation Protein Consequence True +419 NTRK1 Fusion Fusion True +499 ALK Fusion Fusion True +524 DUX4 Fusion Fusion True +567 PDGFRA Fusion Fusion True +568 PDGFRB Fusion Fusion True +569 FGFR1 Fusion Fusion True +1277 NTRK3 Fusion Fusion True +1687 RET Fusion Fusion True +1691 FGFR3 Fusion Fusion True +2202 FGFR2 Fusion Fusion True +2286 NRG1 Fusion Fusion True +2566 ABL1 Fusion Fusion False +2571 ABL2 Fusion Fusion True +2572 JAK2 Fusion Fusion False +2639 BRAF Fusion Fusion False +2640 NTRK2 Fusion Fusion True +2693 ROS1 Fusion Fusion True +2779 STAT6 Fusion Fusion False +2806 KMT2A Fusion Fusion False +2830 ETV1 Fusion Fusion False +3081 RAF1 Fusion Fusion False +3315 TP53 Fusion Fusion False +3957 RASGRF1 Fusion Fusion False +76 KRAS G12 Protein Consequence True +92 NRAS G12 Protein Consequence True +77 KRAS G12/G13 Protein Consequence True +596 NRAS G12/G13 Protein Consequence True +80 KRAS G13 Protein Consequence True +2721 TP53 G245 Protein Consequence False +2724 TP53 G266 Protein Consequence False +3587 H3-3A G34 Protein Consequence False +3742 KIT G3BP2::KIT Fusion False +2822 BRAF G469 Protein Consequence True +3469 NTRK1 G595R and G667S Protein Consequence True +2768 BRAF G596 Protein Consequence False +730 MLH1 G606FS*2 Protein Consequence True +718 EGFR G719 Protein Consequence True +1557 ERBB2 G776INSV_G/C Protein Consequence False +817 ERBB2 G778_P780DUP Copy Number True +3033 RET G810 Protein Consequence False +3214 JAK2 GOLGA5::JAK2 Fusion True +2395 NTRK1 GON4L::NTRK1 Fusion True +2770 ROS1 GOPC::ROS1 Fusion True +4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 Copy Number False +3305 TNFRSF17 Gain Copy Number False +2061 ACVR1 Gain-of-Function Other True +2172 MTOR Gain-of-Function Other False +1765 EGFR Gain-of-function Other True +3766 PIK3CA H1047L or H1047R Protein Consequence True +2581 NCOA2 HEY1::NCOA2 Fusion True +588 ALK HIP1::ALK I1171N Fusion True +2969 HMGA2 HMGA2::LPP Fusion False +3597 DDR2 High expression Expression False +527 ALK I1171 Protein Consequence True +271 ATR I774FS Protein Consequence True +3232 FLT3 I836 Protein Consequence False +765 MSH6 I891FS Protein Consequence True +151 BCL2 IGH::BCL2 Fusion True +2663 CRLF2 IGH::CRLF2 Fusion True +4309 FGFR3 IGHA1::FGFR3 Fusion False +2744 IKZF1 IKZF1 deletion and mutation Region Defined Variant True +2686 IL2RB IL2RB::MYH9 Fusion False +218 SMARCA4 INACTIVATING MUTATION Gene Function True +2238 BARD1 ISOFORM EXPRESSION Expression False +55 FLT3 ITD Rearrangements True +3220 FLT3 ITD N676D Rearrangements False +3209 FLT3 ITD & D835(V/Y/F/H) Rearrangements False +3211 FLT3 ITD & D839G Rearrangements False +3284 FLT3 ITD & L601F Rearrangements False +3636 FLT3 ITD & N841K Rearrangements False +3118 FLT3 ITD & TKD MUTATIONS Other False +3283 FLT3 ITD & Y597F Rearrangements False +3210 FLT3 ITD & Y842C Rearrangements False +3219 FLT3 ITD D651G Rearrangements False +3221 FLT3 ITD I687F Rearrangements False +2785 FLT3 ITD N676K Rearrangements False +3218 FLT3 ITD and co-mutations Rearrangements False +3208 FLT3 ITD&F691(I/L) Rearrangements False +788 CHEK2 IVS2+1G>A Other True +2674 RB1 IVS20, A-G, -2 Other False +2895 NUDT15 Inactivating Mutation Gene Function False +67 KIT Internal Duplication Copy Number True +2659 FGFR1 Internal Duplication Copy Number True +4150 BCOR Internal tandem duplication Copy Number False +4229 BCOR Internal tandem duplication (ITD) Other False +257 EZH2 Intron 6 Mutation Region Defined Variant True +2722 TP53 K132 Protein Consequence False +279 NF2 K159fs Protein Consequence True +1872 VHL K159fs (c.473dup) Copy Number True +2988 PCNA K164R LOSS-OF-MODIFICATION Other False +3476 H3-3A K27 Protein Consequence False +3010 ABL1 K356dup Copy Number False +3273 MSH3 K383fs Protein Consequence False +4177 PDGFRA K385 Protein Consequence False +1166 ATM K468FS Protein Consequence True +1549 KIT K558NP Rearrangements True +2765 BRAF K601 Protein Consequence False +508 PMS2 K706FS*19 Protein Consequence True +2964 RUNX1 K90fsX101 Protein Consequence False +3158 NTRK2 KANK1::NTRK2 Fusion True +4001 ALK KANK4::ALK Fusion True +618 BRAF KIAA1549::BRAF Fusion True +4300 EGFR KIF5B::EGFR Fusion False +2707 MET KIF5B::MET Fusion False +273 RET KIF5B::RET Fusion True +1689 RET KIF5B::RET G810A Fusion False +1688 RET KIF5B::RET V804L Fusion False +3552 KMT2A KMT2A::ABI1 Fusion False +3551 KMT2A KMT2A::AF10 Fusion False +3550 KMT2A KMT2A::AF6 Fusion False +432 KMT2A KMT2A::MLLT3 Fusion True +3117 KMT2A KMT2A::MLLT4 Fusion False +2210 ASNS KMT2E::ASNS Fusion False +3472 KRAS KRAS4A Other False +3471 KRAS KRAS4A underexpression Other False +413 ERBB2 Kinase Domain Mutation Region Defined Variant True +2731 TP53 L114 Protein Consequence False +1783 VHL L158fs (c.471dupT) Copy Number True +2735 TP53 L206 Protein Consequence False +1318 TP53 L3 Domain Mutation Region Defined Variant False +1677 FBXW7 L403FS*34 Protein Consequence False +541 PALB2 L531FS*30 Protein Consequence True +2766 BRAF L597 Protein Consequence False +2997 EGFR L718V and L718Q Protein Consequence False +1006 EGFR L747_A750>P Rearrangements False +1011 EGFR L747_P753>Q Rearrangements False +4221 AKT2 L78_Q79ins Rearrangements False +1866 EGFR L861 Protein Consequence True +3483 LGR5 LGR5FL Expression False +1278 NTRK1 LMNA::NTRK1 Fusion True +1282 NTRK1 LMNA::NTRK1 G595R and G667C Fusion True +3225 NTRK1 LMNA::NTRK1 e11-e10 Fusion True +3223 NTRK1 LMNA::NTRK1 e2-e10 Fusion True +3224 NTRK1 LMNA::NTRK1 e2-e11 Fusion True +302 PTCH1 LOH Genotypes Compound True +564 SMAD4 LOSS Gene Function True +809 MSH6 LOSS Gene Function True +3659 SMARCB1 LOSS OF NUCLEAR PROTEIN EXPRESSION Expression False +2596 LZTR1 LOSS-OF-FUNCTION Gene Function False +2755 FUBP1 LOSS-OF-FUNCTION Gene Function False +2968 HMGA2 LPP::HMGA2 Fusion False +3272 ABL1 LSM14A::ABL1 Fusion True +23 CCND3 Loss Gene Function True +214 PTEN Loss Gene Function True +370 MRE11 Loss Gene Function True +436 VHL Loss Gene Function True +485 STK11 Loss Gene Function True +554 CDKN2A Loss Gene Function True +555 CDKN2B Loss Gene Function True +672 SOX10 Loss Gene Function True +697 NF2 Loss Gene Function True +698 NF1 Loss Gene Function True +808 MSH2 Loss Gene Function True +853 NBN Loss Gene Function False +925 STK11 Loss Gene Function False +1876 CIC Loss Gene Function False +1879 ATXN1L Loss Gene Function False +1880 ATM Loss Gene Function False +2212 BAP1 Loss Gene Function False +2230 ASS1 Loss Gene Function True +2232 FLCN Loss Gene Function False +2234 KMT2D Loss Gene Function False +2365 TF Loss Gene Function False +2644 SMARCA4 Loss Gene Function True +2754 PRKN Loss Gene Function False +3202 SMARCB1 Loss Gene Function True +4310 KDM6A Loss Gene Function False +125 TSC1 Loss-of-function Gene Function True +131 BRCA1 Loss-of-function Gene Function True +132 BRCA2 Loss-of-function Gene Function True +159 VHL Loss-of-function Gene Function True +167 KMT2D Loss-of-function Gene Function True +230 CHEK2 Loss-of-function Gene Function True +236 CDK12 Loss-of-function Gene Function True +534 FANCC Loss-of-function Gene Function True +601 NOTCH1 Loss-of-function Gene Function True +606 RB1 Loss-of-function Gene Function True +637 FBXW7 Loss-of-function Gene Function True +721 CYP2D6 Loss-of-function Gene Function True +819 PTPRB Loss-of-function Gene Function True +1293 ARID1A Loss-of-function Gene Function True +2171 TSC2 Loss-of-function Gene Function False +2219 BARD1 Loss-of-function Gene Function True +2235 RASA1 Loss-of-function Gene Function True +2236 ATM Loss-of-function Gene Function False +2415 SMAD4 Loss-of-function Gene Function False +2424 KMT2C Loss-of-function Gene Function False +2565 PTPN12 Loss-of-function Gene Function False +2705 PBRM1 Loss-of-function Gene Function False +3316 MEN1 Loss-of-function Gene Function False +4269 ATRX Loss-of-function Gene Function False +1247 BRCA2 M1R Other True +1889 VHL M54fs (c.161dup) Copy Number True +638 RB1 M695FS*26 Protein Consequence True +2227 BRAF MACF1::BRAF Fusion True +3988 MAP3K8 MAP3K8 fusion Fusion False +3148 MEF2D MEF2D Rearrangement Rearrangements False +30 CSF1R MEF2D::CSF1R Fusion True +2894 MET MET::ATXN7L1 Fusion True +538 MLH1 METHYLATION Epigenetic Modification True +784 CDKN2B METHYLATION Epigenetic Modification True +3114 MN1 MN1::CXXC5 Fusion False +217 SMARCA4 MUTATION Region Defined Variant True +521 U2AF1 MUTATION Region Defined Variant True +595 SRSF2 MUTATION Region Defined Variant True +623 POT1 MUTATION Region Defined Variant True +644 PRDM1 MUTATION Region Defined Variant True +659 NF2 MUTATION Region Defined Variant False +664 CDH1 MUTATION Region Defined Variant True +665 RHOA MUTATION Region Defined Variant True +668 KMT2C MUTATION Region Defined Variant True +669 STAG2 MUTATION Region Defined Variant True +674 EIF1AX MUTATION Region Defined Variant True +2169 BTK MUTATION Region Defined Variant True +2170 PLCG2 MUTATION Region Defined Variant True +2652 H3-3A MUTATION Region Defined Variant True +2761 ZRSR2 MUTATION Region Defined Variant False +2773 RABL3 MUTATION Region Defined Variant False +3052 CD79B MUTATION Region Defined Variant False +3073 CARD11 MUTATION Region Defined Variant False +3138 NPM1 MUTATION Region Defined Variant False +2665 MYB MYB::GATA1 Fusion False +4327 MYB MYB::QKI Fusion False +3586 MYC MYC AND (BCL2 OR BCL6) TRANSLOCATION Rearrangements False +29 CEBPA Mutation Region Defined Variant True +155 RUNX1 Mutation Region Defined Variant True +157 TET2 Mutation Region Defined Variant True +160 VHL Mutation Region Defined Variant True +161 PBRM1 Mutation Region Defined Variant True +163 EZH2 Mutation Region Defined Variant True +174 APC Mutation Region Defined Variant True +177 ASXL1 Mutation Region Defined Variant True +178 ATM Mutation Region Defined Variant True +183 BAP1 Mutation Region Defined Variant True +185 BRCA1 Mutation Region Defined Variant True +186 BRCA2 Mutation Region Defined Variant True +189 DNMT3A Mutation Region Defined Variant True +206 NOTCH1 Mutation Region Defined Variant True +208 NRAS Mutation Region Defined Variant True +215 SF3B1 Mutation Region Defined Variant True +216 SMAD4 Mutation Region Defined Variant True +222 TP53 Mutation Region Defined Variant True +275 HRAS Mutation Region Defined Variant True +277 MTOR Mutation Region Defined Variant True +281 FBXW7 Mutation Region Defined Variant True +297 RIT1 Mutation Region Defined Variant True +300 SMO Mutation Region Defined Variant True +301 PTCH1 Mutation Region Defined Variant True +310 ERBB4 Mutation Region Defined Variant True +311 PIK3CA Mutation Region Defined Variant True +323 MET Mutation Region Defined Variant True +327 PTPRD Mutation Region Defined Variant True +336 KRAS Mutation Region Defined Variant True +388 KIT Mutation Region Defined Variant True +399 BRAF Mutation Region Defined Variant True +442 EGFR Mutation Region Defined Variant True +505 GNAQ Mutation Region Defined Variant True +506 GNA11 Mutation Region Defined Variant True +510 PTEN Mutation Region Defined Variant True +511 FGFR2 Mutation Region Defined Variant True +512 ALK Mutation Region Defined Variant True +519 FLT3 Mutation Region Defined Variant True +560 CSF3R Mutation Region Defined Variant True +570 IDH2 Mutation Region Defined Variant True +587 NF1 Mutation Region Defined Variant True +600 AR Mutation Region Defined Variant True +633 PIK3R1 Mutation Region Defined Variant True +645 IDH1 Mutation Region Defined Variant True +663 BCOR Mutation Region Defined Variant True +666 ERBB2 Mutation Region Defined Variant True +713 CRBN Mutation Region Defined Variant True +715 STK11 Mutation Region Defined Variant True +797 POLE Mutation Region Defined Variant True +799 RB1 Mutation Region Defined Variant True +827 FGFR3 Mutation Region Defined Variant True +1690 RET Mutation Region Defined Variant False +2231 FLCN Mutation Region Defined Variant False +2233 BCL2 Mutation Region Defined Variant True +2237 KDM5C Mutation Region Defined Variant False +2388 CALR Mutation Region Defined Variant True +2567 ETV6 Mutation Region Defined Variant False +2641 FGFR1 Mutation Region Defined Variant False +2642 PTPN11 Mutation Region Defined Variant False +2668 FOXO3 Mutation Region Defined Variant False +2692 B2M Mutation Region Defined Variant False +2699 CBL Mutation Region Defined Variant False +2704 CDKN2A Mutation Region Defined Variant True +2749 NFE2L2 Mutation Region Defined Variant True +2759 PALB2 Mutation Region Defined Variant False +2760 MPL Mutation Region Defined Variant False +2764 CDK12 Mutation Region Defined Variant False +2898 NT5C2 Mutation Region Defined Variant True +2958 SDHB Mutation Region Defined Variant False +2983 ACVR1 Mutation Region Defined Variant True +3072 GATA2 Mutation Region Defined Variant False +3115 GATA1 Mutation Region Defined Variant False +3203 ATRX Mutation Region Defined Variant True +3274 PDGFRA Mutation Region Defined Variant True +4018 MS4A1 Mutation Region Defined Variant True +3127 WT1 Mutations Region Defined Variant False +28 CEBPA N-TERMINAL FRAME SHIFT Protein Consequence True +1581 EGFR N771>GY Rearrangements False +1320 ERBB2 NON-AMPLIFICATION Copy Number False +513 ALK NPM::ALK Fusion True +2883 BRAF NRF1::BRAF Fusion True +2762 NRG1 NRG1 FUSIONS Fusion False +3740 NTRK1 NTRK1 amplification Copy Number False +340 DKK1 NUCLEAR EXPRESSION Expression True +368 BIRC5 NUCLEAR EXPRESSION Expression True +391 IGF1R NUCLEAR EXPRESSION Expression True +438 PSMB8 NUCLEAR EXPRESSION Expression True +439 PBK NUCLEAR EXPRESSION Expression True +490 HSPH1 NUCLEAR EXPRESSION Expression True +494 PIM1 NUCLEAR EXPRESSION Expression True +364 ERBB4 NUCLEAR TRANSLOCATION Rearrangements True +3271 ABL1 NUP153::ABL1 Fusion True +2660 ABL1 NUP214::ABL1 Fusion True +3111 NUP98 NUP98::KDM5A Fusion False +2593 NUP98 NUP98::NSD1 Fusion True +2376 ABL1 Non-P-Loop Mutation Region Defined Variant True +2408 BRAF Non-V600 Region Defined Variant True +3297 VHL Null (11 kb 3' deletion) Gene Function False +2016 VHL Null (Complete deletion) Gene Function False +2182 VHL Null (Large deletion) Gene Function True +1947 VHL Null (Partial deletion of 4.6 Kb) Gene Function False +2082 VHL Null (Partial deletion of Exon 1) Other False +1951 VHL Null (Partial deletion of Exon 2) Other False +1952 VHL Null (Partial deletion of Exon 3) Other False +2083 VHL Null (Partial deletion of Exons 1 & 2) Other False +2036 VHL Null (Partial deletion of Exons 2 & 3) Other True +2103 VHL Null (Partial deletion) Gene Function False +3361 VHL Null (del one VHL allele) Gene Function False +3180 VHL Null (deletion) Gene Function False +3188 VHL Null (large 3' deletion) Gene Function False +3262 VHL Null (point mutation codon 238) Gene Function False +3296 VHL Null (rearrangement) Other False +2974 JAK2 OFD1::JAK2 Fusion True +21 CCND2 OVEREXPRESSION Expression True +205 NCOA3 OVEREXPRESSION Expression True +296 RIT1 OVEREXPRESSION Expression True +305 SYK OVEREXPRESSION Expression True +345 SPHK1 OVEREXPRESSION Expression True +348 PBK OVEREXPRESSION Expression True +359 AR OVEREXPRESSION Expression True +378 PTP4A3 OVEREXPRESSION Expression True +396 JAK1 OVEREXPRESSION Expression True +434 HIF1A OVEREXPRESSION Expression True +440 PTTG1 OVEREXPRESSION Expression True +796 RRM2 OVEREXPRESSION Expression True +1299 MERTK OVEREXPRESSION Expression True +2362 PIK3CA OVEREXPRESSION Expression False +2419 NR2F2 OVEREXPRESSION Expression False +2586 PARP1 OVEREXPRESSION Expression True +2917 LYN OVEREXPRESSION Expression True +2981 WDR12 OVEREXPRESSION Expression False +2982 PLK1 OVEREXPRESSION Expression False +3112 PALB2 Oncogenic Mutations (loss of function alterations) Other False +3113 ATM Oncogenic Mutations (loss of function alterations) Other False +20 CCND1 Overexpression Expression True +24 CCNE1 Overexpression Expression True +152 BCL2 Overexpression Expression True +156 IGF2 Overexpression Expression True +181 AURKA Overexpression Expression True +193 EGFR Overexpression Expression True +289 ERBB3 Overexpression Expression True +290 NT5E Overexpression Expression True +291 EZH2 Overexpression Expression True +292 MYD88 Overexpression Expression True +325 FGFR3 Overexpression Expression True +346 CASP8 Overexpression Expression True +347 TYMS Overexpression Expression True +377 TIMP1 Overexpression Expression True +408 ABCC10 Overexpression Expression True +435 EPAS1 Overexpression Expression True +472 ALDH1A2 Overexpression Expression True +481 DDX43 Overexpression Expression True +483 TBK1 Overexpression Expression True +486 HAVCR2 Overexpression Expression True +525 B4GALT1 Overexpression Expression True +529 SIRT1 Overexpression Expression True +539 PTPN11 Overexpression Expression True +547 RB1 Overexpression Expression True +578 BIRC5 Overexpression Expression True +597 RET Overexpression Expression True +602 CDK6 Overexpression Expression True +603 FLT3 Overexpression Expression True +607 ESR1 Overexpression Expression True +619 PTGS2 Overexpression Expression False +621 MET Overexpression Expression True +639 JUN Overexpression Expression True +640 FOS Overexpression Expression True +653 ETV4 Overexpression Expression True +693 SGK1 Overexpression Expression True +795 RRM1 Overexpression Expression True +858 CSF1 Overexpression Expression False +859 ROS1 Overexpression Expression False +860 NTRK1 Overexpression Expression True +866 MITF Overexpression Expression False +869 YAP1 Overexpression Expression False +875 ERBB2 Overexpression Expression True +1256 TERT Overexpression Expression False +1259 AEBP1 Overexpression Expression False +1273 CTAG1B Overexpression Expression True +1274 CTAG2 Overexpression Expression True +1279 BRD4 Overexpression Expression False +1301 AKT3 Overexpression Expression True +1303 MYC Overexpression Expression True +1306 TP53 Overexpression Expression True +1693 CHEK1 Overexpression Expression True +1877 ETV1 Overexpression Expression False +1878 ETV5 Overexpression Expression False +2167 FGFR4 Overexpression Expression False +2204 KDR Overexpression Expression False +2239 TPT1 Overexpression Expression False +2360 AKT1 Overexpression Expression True +2363 PIK3R2 Overexpression Expression True +2410 ERCC1 Overexpression Expression False +2417 FGFR2 Overexpression Expression False +2578 NOTCH3 Overexpression Expression False +2584 CDK9 Overexpression Expression False +2585 VEGFA Overexpression Expression False +2588 EPOR Overexpression Expression False +2635 ALK Overexpression Expression False +2636 CDK4 Overexpression Expression False +2679 WEE1 Overexpression Expression False +2717 PSMD4 Overexpression Expression False +2739 CRLF2 Overexpression Expression False +2784 FGF19 Overexpression Expression True +2808 WNT11 Overexpression Expression False +2904 FGFR1 Overexpression Expression False +2908 TACSTD2 Overexpression Expression False +2911 IL6 Overexpression Expression True +2915 ABCB1 Overexpression Expression True +2944 PDGFRA Overexpression Expression True +2955 STAT1 Overexpression Expression False +2970 VEGFC Overexpression Expression False +2973 PDGFRB Overexpression Expression True +2978 MIR21 Overexpression Expression False +2980 IL33 Overexpression Expression False +2985 CCN2 Overexpression Expression False +3006 FOXC2 Overexpression Expression False +3007 ZEB1 Overexpression Expression False +3008 CUL7 Overexpression Expression False +3139 MECOM Overexpression Expression False +3243 ACTL6A Overexpression Expression False +3249 MYCN Overexpression Expression False +3259 IGF1R Overexpression Expression True +3277 ZHX2 Overexpression Expression False +3279 HDAC2 Overexpression Expression False +3306 HDAC9 Overexpression Expression False +3307 FOXF1 Overexpression Expression False +3568 JAK2 Overexpression Expression False +3569 STAT5B Overexpression Expression False +3598 DDR2 Overexpression Expression False +3599 HDAC6 Overexpression Expression False +3646 HOXC10 Overexpression Expression False +3728 SLC29A1 Overexpression Expression True +3731 KIT Overexpression Expression False +3732 HSP90B1 Overexpression Expression False +3733 KRAS Overexpression Expression False +3734 COX2 Overexpression Expression False +3735 BRAF Overexpression Expression False +3746 CCNE2 Overexpression Expression False +4237 AURKB Overexpression Expression False +4297 FGFR1 Overexpression Expression False +3415 AR Overexpression of AR-V9 Expression False +3324 VEGFA Overexpression of VEGF121 Expression False +3325 VEGFA Overexpression of VEGF121 and VEGF110 Expression False +2375 ABL1 P-Loop Mutation Region Defined Variant True +1682 ARID1A P1175FS*5 Protein Consequence True +2495 VHL P138fs (c.410dup) Copy Number False +2732 TP53 P153 Protein Consequence False +207 NOTCH1 P2514FS Protein Consequence True +2726 TP53 P278 Protein Consequence False +2350 CRLF2 P2RY8::CRLF2 Fusion False +756 MLH1 P536FS Protein Consequence True +4224 AKT1 P68-C77dup Copy Number False +41 ERBB2 P780INS Rearrangements True +477 BRCA1 P968FS Protein Consequence True +3525 ABL2 PAG1::ABL2 Fusion False +286 BRAF PAPSS1::BRAF Fusion True +2582 FOXO1 PAX3::FOXO1 Fusion True +2861 JAK2 PAX5::JAK2 Fusion True +2583 FOXO1 PAX7::FOXO1 Fusion True +209 PAX8 PAX8::PPARG Fusion True +571 JAK2 PCM1::JAK2 Fusion True +2289 NTRK1 PDE4DIP::NTRK1 Fusion True +387 EIF4EBP1 PHOSPHORYLATION Epigenetic Modification True +395 RPS6 PHOSPHORYLATION Epigenetic Modification True +632 RB1 PHOSPHORYLATION Epigenetic Modification True +108 PML PML::RARA Fusion True +3025 PML PML::RARA A216T Fusion False +462 PML PML::RARA A216V Fusion True +463 PML PML::RARA L218P Fusion True +3024 PML PML::RARA S214L Fusion False +2848 JAK2 PPFIBP1::JAK2 Fusion True +617 BRAF PPFIBP2::BRAF Fusion True +3235 PRKAR1A PRKAR1A LOH, allelic imbalance 17q Genotypes Compound False +22 CCND2 PROMOTER DEMETHYLATION Epigenetic Modification True +2254 DBI PROMOTER DEMETHYLATION Epigenetic Modification False +711 KLLN PROMOTER METHYLATION Epigenetic Modification True +2916 PRPS1 PRPS1 MUTATION Region Defined Variant True +2683 PTK2B PTK2B::KDM6A Fusion False +2684 PTK2B PTK2B::STAG2 Fusion False +2184 VHL Partial deletion of 0.7 Kb Region Defined Variant False +4200 VHL Partial deletion of 0.8 kb Region Defined Variant False +2185 VHL Partial deletion of 1 Kb Region Defined Variant False +2186 VHL Partial deletion of 1.2 Kb Region Defined Variant False +2187 VHL Partial deletion of 1.5 Kb Region Defined Variant False +3999 VHL Partial deletion of 10 Kb Region Defined Variant False +2188 VHL Partial deletion of 11 Kb Region Defined Variant False +2189 VHL Partial deletion of 12 Kb Region Defined Variant False +3095 VHL Partial deletion of 2 Kb Region Defined Variant False +2191 VHL Partial deletion of 3 Kb Region Defined Variant False +2190 VHL Partial deletion of 3.5 Kb Region Defined Variant False +2492 VHL Partial deletion of 4 Kb Region Defined Variant False +2193 VHL Partial deletion of 7 Kb Region Defined Variant False +2192 VHL Partial deletion of 7.5 Kb Region Defined Variant False +2194 VHL Partial deletion of 8.2 Kb Region Defined Variant False +3466 NTRK1 Point Mutations Other False +3467 NTRK3 Point Mutations Other False +27 CDKN2A Promoter Hypermethylation Epigenetic Modification True +333 PTPRT Promoter Hypermethylation Epigenetic Modification True +374 NAPRT Promoter Hypermethylation Epigenetic Modification True +85 MGMT Promoter Methylation Epigenetic Modification True +220 TERT Promoter Mutation Region Defined Variant True +127 U2AF1 Q157P/R Protein Consequence True +507 GNAQ Q209 Protein Consequence True +558 GNA11 Q209 Protein Consequence True +744 MLH1 Q426FS Protein Consequence True +3326 FLT3 Q575Δ Other False +94 NRAS Q61 Protein Consequence True +203 KRAS Q61 Protein Consequence True +2570 HRAS Q61 Protein Consequence True +1105 KRAS Q61FS Protein Consequence False +4000 RAF1 QKI-RAF1 Fusion True +3029 BCL2 R107_R110dup Copy Number False +2021 VHL R108dup (c.322_324dup) Copy Number True +58 IDH1 R132 Protein Consequence True +804 RUNX1 R135FSX177 Protein Consequence True +62 IDH2 R140 Protein Consequence True +199 IDH2 R172 Protein Consequence True +876 GNAS R201 Protein Consequence True +2723 TP53 R248 Protein Consequence False +119 TP53 R249 Protein Consequence True +2725 TP53 R273 Protein Consequence False +2597 DICER1 R392fs and E1813D Protein Consequence False +735 MLH1 R687FS Protein Consequence True +1165 ATM R777FS Protein Consequence False +3411 TEK R849W and R1108* Protein Consequence False +32 DNMT3A R882 Protein Consequence True +3268 ABL1 RANBP2::ABL1 Fusion True +514 ALK RANBP2::ALK Fusion True +3116 RBM15 RBM15::MKL1 Fusion False +3207 MET RBPMS::MET Fusion False +2681 ABL1 RCSD1::ABL1 Fusion True +2891 RCSD1 RCSD1::ABL1 Fusion False +3526 ABL2 RCSD1::ABL2 Fusion False +3527 CSF1R RCSD1::ABL2 Fusion False +2865 JAK2 RFX3::JAK2 Fusion True +332 FNTB RS11623866 Other True +338 MGMT RS16906252 Other True +643 CBLB RS2305035 Other True +421 TERT RS2736100 Other True +699 SH2B3 RS3184504 Other True +779 TYMS RS34743033 Other True +642 MDM2 RS34886328 Other True +482 KIT RS3733542 Other True +641 CDKN2A RS3814960 Other True +331 WEE1 RS3910384 Other True +777 SLCO1B1 RS4149056 Other True +445 ETS2 RS461155 Other True +548 PPP1R15A RS557806 Other True +254 KRAS RS61764370 Other True +740 DPYD RS67376798 HOMOZYGOSITY Other True +255 ERCC5 RS751402 Other True +3126 RUNX1 RUNX1::RUNX1T1 Fusion False +1863 EGFR Rare Exon 18-21 Mutation Region Defined Variant True +2334 EGFR Rare Mutation Other True +3222 PIK3CA Rare Mutation Other True +269 ROS1 Rearrangement Rearrangements True +2439 VHL Rearrangement Rearrangements True +3141 KMT2A Rearrangement Rearrangements False +4003 PDGFB Rearrangement Rearrangements False +4338 CRLF2 Rearrangement Rearrangements False +3080 VHL S139fs Protein Consequence False +616 B2M S14FS Protein Consequence True +2856 ROS1 S1986Y/F Protein Consequence False +138 NOTCH1 S2275FS Protein Consequence True +497 ERBB2 S310F/Y Protein Consequence True +128 U2AF1 S34Y/F Protein Consequence True +3257 AKT1 S473 Phosphorylation Epigenetic Modification True +3329 FLT3 S574Δ Other False +1676 FBXW7 S668FS*39 Protein Consequence False +720 EGFR S720 Protein Consequence True +1511 EGFR S768_D770dup Copy Number True +451 ABCB1 S893A/T Protein Consequence True +4253 NTRK1 SCP2::NTRK1 Fusion False +2179 NRG1 SDC4::NRG1 Fusion True +4251 EGFR SEC61G::EGFR Fusion False +416 ERBB2 SERUM LEVELS Expression True +487 MMP2 SERUM LEVELS Expression True +488 MMP9 SERUM LEVELS Expression True +3287 ABL1 SFPQ::ABL1 Fusion True +411 STAT3 SH2 DOMAIN MUTATION Region Defined Variant True +3986 SH3PXD2A SH3PXD2A::HTRA1 Fusion False +2166 NRG1 SLC3A2::NRG1 Fusion True +2975 JAK2 SMU1::JAK2 Fusion True +536 SULT1E1 SNP Region Defined Variant False +495 MDM2 SNP309 Protein Consequence True +2976 JAK2 SNX29::JAK2 Fusion True +2678 ABL1 SNX2::ABL1 Fusion True +478 AR SPLICE VARIANT 7 Other False +800 NTRK1 SQSTM1::NTRK1 Fusion True +448 SSX1 SS18::SSX1 Fusion True +449 SSX2 SS18::SSX2 Fusion True +450 SSX4 SS18::SSX4 Fusion True +3566 CSF1R SSBP2::CSF1R Fusion False +2661 JAK2 SSBP2::JAK2 Fusion True +2849 JAK2 STRN3::JAK2 Fusion True +2218 ALK STRN::ALK Fusion True +2287 NTRK2 STRN::NTRK2 Fusion True +3108 VHL Single Allele Deletion Genotypes Compound False +3409 TEK T1105N and T1106N Protein Consequence False +810 RUNX1 T148HFSX9 Protein Consequence True +491 HSPH1 T17 DELETION Region Defined Variant True +2733 TP53 T170 Protein Consequence False +385 PRKAA2 T172 PHOSPHORYLATION Epigenetic Modification True +1298 BRAF T599dup Copy Number False +3517 ZNF384 TAF15::ZNF384 Fusion False +3359 CSF1R TBL1XR1::CSF1R Fusion True +2862 JAK2 TERF2::JAK2 Fusion True +3730 TFE3 TFE3 fusion Fusion False +4074 TFEB TFEB amplification Copy Number False +576 ROS1 TFG::ROS1 Fusion True +2669 TGFBR3 TGFBR3 Protein Consequence False +56 FLT3 TKD MUTATION Gene Function True +2371 ABL1 TKD MUTATION Gene Function True +3128 TLX3 TLX3::BCL11B Fusion False +195 ERG TMPRSS2::ERG Fusion True +707 TMPRSS2 TMPRSS2::ERG Fusion False +3473 TNC TNC-L Expression False +774 PDGFRA TNKS2::PDGFRA Fusion True +3486 TOP2A TOP2A/90 Other False +2992 NTRK1 TPM3::NTRK1 Fusion True +2850 JAK2 TPR::JAK2 Fusion True +3465 NTRK1 TPR::NTRK1 Fusion False +287 BRAF TRIM24::BRAF Fusion True +2393 NTRK1 TRIM63::NTRK1 Fusion True +739 FOS TRUNCATING FUSION Fusion True +590 BIRC3 TRUNCATING MUTATION Protein Consequence True +708 BRCA2 TRUNCATING MUTATION Protein Consequence True +3110 CREBBP TRUNCATING MUTATIONS AND DELETERIOUS SUBSTITUTIONS Protein Consequence False +4026 FGFR2 Translocation Rearrangements False +4027 FGFR3 Translocation Rearrangements False +223 TP53 Truncating Mutation Protein Consequence True +729 UGT1A1 UGT1A1*28 Genotypes Easy True +732 UGT1A1 UGT1A1*60 Genotypes Easy True +417 THBS2 UNDEREXPRESSION Expression True +441 LEPR UNDEREXPRESSION Expression True +446 KRT18 UNDEREXPRESSION Expression True +498 MIR218-1 UNDEREXPRESSION Expression True +2418 SPRY2 UNDEREXPRESSION Expression False +2863 JAK2 USP25::JAK2 Fusion True +179 ATM Underexpression Expression True +282 SMAD4 Underexpression Expression True +304 STK11 Underexpression Expression True +349 SMARCA4 Underexpression Expression True +382 TYMS Underexpression Expression True +403 BRCA1 Underexpression Expression True +422 STAG2 Underexpression Expression True +473 ALDH1A2 Underexpression Expression True +475 CIP2A Underexpression Expression True +648 ATRX Underexpression Expression True +654 STAG3 Underexpression Expression True +695 SMARCB1 Underexpression Expression True +867 MTAP Underexpression Expression True +868 VPS37A Underexpression Expression True +1255 MGMT Underexpression Expression True +1257 RRM1 Underexpression Expression True +2108 ARID1A Underexpression Expression True +2164 CX3CL1 Underexpression Expression False +2384 PBLD Underexpression Expression False +2386 ERRFI1 Underexpression Expression False +2392 PTPN6 Underexpression Expression False +2409 ERCC1 Underexpression Expression True +2412 FGFR2 Underexpression Expression False +3459 AR V1 expression Expression False +1167 ATM V1268FS Protein Consequence False +750 MLH1 V213FS Protein Consequence True +137 NOTCH1 V2444FS Protein Consequence True +762 MSH2 V273FS Protein Consequence True +605 PTEN V317FS Protein Consequence True +1316 KIT V559 Protein Consequence False +3461 AR V567es expression Expression False +17 BRAF V600 Protein Consequence True +2820 BRAF V600_K601>E Rearrangements True +2821 BRAF V600_S602>DT Rearrangements False +362 AR V7 EXPRESSION Expression True +1310 ERBB2 V773 Protein Consequence False +2159 AR V9 EXPRESSION Expression False +3729 TFE3 VCF::TFE3 Fusion False +3701 NTRK2 VCL::NTRK2 Fusion True +3303 CHD7 VCV000625197, Translocation (t(8;X)(q12.2;p22.13)), CHD7–BEND2 fusion Other False +3321 VEGFA VEGF165b Overexpression Expression False +312 EGFR VIII Gene Function True +4242 EGFR VOPP1::EGFR Fusion False +2027 VHL W117fs (c.349dup) Copy Number True +2728 TP53 W146 Protein Consequence False +87 NPM1 W288FS Protein Consequence True +176 AR W742 Protein Consequence True +2299 VHL W88fs (c.261dup) Copy Number True +2228 BRAF WASFL::BRAF Fusion True +426 BRAF WILD TYPE Genotypes Easy True +2366 PTEN WILD TYPE Genotypes Easy False +2651 KIT WILDTYPE Genotypes Easy True +742 WWTR1 WWTR1::CAMTA1 Fusion True +369 TP53 Wildtype Genotypes Easy True +2174 EGFR Wildtype Genotypes Easy True +2590 PIK3CA Wildtype Genotypes Easy True +3200 KRAS Wildtype Genotypes Easy True +390 EGFR Y1092 PHOSPHORYLATION Epigenetic Modification True +245 NF2 Y177fs Protein Consequence True +2720 TP53 Y205 Protein Consequence False +3327 FLT3 Y572Δ Other False +165 EZH2 Y646 Protein Consequence True +3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V Protein Consequence False +3055 FLT3 Y693 Protein Consequence False +1672 EGFR Y69FS*11 Protein Consequence False +414 ERBB2 Y772_A775DUP Copy Number True +3410 TEK Y897C and R915C Protein Consequence False +3578 ABL2 ZC3HAV1::ABL2 Fusion False +657 BRAF ZKSCAN1::BRAF Fusion True +3269 ABL1 ZMIZ1::ABL1 Fusion True +466 FGFR1 ZNF198::FGFR1 Fusion True +2864 JAK2 ZNF274::JAK2 Fusion True +2977 JAK2 ZNF430::JAK2 Fusion True +3481 ESR2 alternative transcripts Other False +3477 ESR2 beta-2 and beta-5 Other False +3511 CD19 delta-ex2, delta-ex5-6 Other False +3487 BRCA1 delta11q Other False +3482 LGR5 delta5 Other False +2349 IL7R exon 6 mutations Region Defined Variant False +3752 SSTR5 expression Expression True +2807 BRCA1 gBRCAm Other False +2226 BRAF intron 10 rearrangement Rearrangements True +2225 BRAF intron 9 rearrangement Rearrangements True +2814 DRD5 low expression Expression False +3323 VEGFA low ratio of VEGF165b/VEGFtotal Expression False +2845 HOXD8 mutation Region Defined Variant False +3322 VEGFA overexpression of VEGF-Axxxa Expression False +2411 SDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC) Copy Number True +3057 GATA1 p.Ser51Alafs*86 Protein Consequence False +272 CDKN2A p16 Expression Expression True +3512 BRAF p61BRAF(V600E) Genotypes Easy False +3313 CDKN1A rs1059234 Other True +2787 PRNCR1 rs1456315 Other False +256 KIT rs17084733 Other True +2671 CDKN1A rs1801270 Other True +3314 CDKN1A rs1801270 and rs1059234 Other False +705 GADD45A rs681673 Other True +3703 GALNT14 rs9679162 Other False +4284 VHL t(1;3)(p36.3;p25) Rearrangements False +2429 VHL t(1;3)(q32;q13.3) Rearrangements False +2876 VHL t(2;3)(q35;q21) Rearrangements False +3265 VHL t(3;12)(q13.13;q24.23) Rearrangements False +4009 VHL t(3;12)(q13.2;q24.1) Rearrangements False +3524 MECOM t(3;21)(q26.2;q22) Rearrangements False +3264 VHL t(3;6)(p12.3;q24.3) Rearrangements False +4008 VHL t(3;6)(p13;q25.1) Rearrangements False +3351 VHL t(3;8)(p13;q24.1) Rearrangements False +3478 ESR2 underexpression beta-1 Other False +3508 CD274 v242 Protein Consequence False +2422 NTRK3 ~DEPRECATED-ETV6-NTRK3 Other False +2748 ETV6 ~DEPRECATED-ETV6::NTRK3 FUSION Other False +2718 CCNE1 ｍRNA expression low Expression False diff --git a/notebooks/analysis/civic/transcript_variants.csv b/notebooks/analysis/civic/transcript_variants.csv index cac24878..348efa67 100644 --- a/notebooks/analysis/civic/transcript_variants.csv +++ b/notebooks/analysis/civic/transcript_variants.csv @@ -1,385 +1,385 @@ -variant_id variant_name -4170 3'UTR alteration (c.*70C>T) -4214 T124I (c.371C>T) -4216 W8* (c.23G>A) -4278 Y112C (c.335A>G) -4232 c.212+1G>T -3196 *214Gext*14 (c.640T>G) -2930 106insR (c.316insGCC) -3083 180fs*22 (c.540delC) -3102 3' UTR alteration (c.*1149A>G) -2482 A149fs (c.446delG) -2023 A149fs (c.449del14-nt) -2962 A28fsX109 (c.83insG) -2442 A50= (c.150C>G) and Splice Site (c.463-1G>T) -2265 A56_P59del (c.166_178del) -3170 C162Wfs*12(c.485dupG) -4181 C162Y(c.486C>G) and L188V(c.562C>G) and P81S(c.241C>T) and F119L(c.357C>G) -4108 C77Sfs*82 (c.230del) -3245 C77fs (c.230del) -3567 D121Y(c.361G>T) -2553 D121_A122del (c.361_366del) -3156 D126Efs* (c.377_378insG) -1918 D126FS (c.375_376insC) -3179 D126N (c.376G>A) / S183L (c.548C>T) -4207 D143= (c.429C>T) and c.340+770T>C -4153 D143Efs*13 (c.429_438del) -1844 D143fs (c.430delG) -2479 D197Rfs* (c.588_588dupA) -3260 D213E (c.639T>G) -2673 D679N (c.2035G>A) -3360 D92V (c.275A>T) -2963 D96H (c.238G>C) -4192 Deletion AND I151S(c.452T>G) -4193 Deletion AND R200W (c.598C>T) -4194 Deletion AND R69C (c.205C>T) -4155 E173Rfs*29 (c.516del) -2529 E189_D190del (c.565_570delGAAGAC) -4234 E21A (c.62A>C) -4275 E31= (c.93G>A) -3383 E52*(c.156G>T) -1735 E52fs* (c.156G>T) -3635 E55* (c.162_163insT) -4077 E55Gfs*77 (c.163dup) -2301 E55fs (c.162delG) -3744 E55fs (c.163delG) -3654 E55fs (c.163dupG) -3036 E70Dfs(c.210delG) -2538 E70K (c.208G>A) and Splice Region (c.340+5G>C) -2304 E70fs (c.209_210delAG) -4161 E73* (c.217C>T) -2310 E94_P97del (c.281_291del) -4168 Exon 1-3 Deletion and P81S (c.241C>T) -4169 Exon 1-3 Deletion and Splice Region (c.340+5G>C) -4250 Exon 3 deletion (c.464-11 T>A) -4245 Exon 3 deletion AND S139C (c.416C>G) -4206 F136C (c.407G>T) -3984 F136L (c.406T>C) -3363 F136LFS*23 (c.408del) -3295 F136V (c.406T>G) -2423 F136fs (c.407delC) -2558 F137fs (c.408insT) -3143 F148* (c.443_455delinsA) -3129 F148Lfs*11 (c.444del) -2096 F158ins (c.472insTTT) -2542 F190L (c.568T>C) -4083 F76* (c.227T>A; c.228C>A) -4082 F76_C77del (c.226_231del) -2271 F76_N78del (c.226_232del) -3494 F76del (c.224_226delTTC) -4081 F76del (c.226_228del) -3577 F76del (c.226_228delTTC) -3157 F76del (c.227_229del) -2018 F76del (c.227_229delTCT) -3632 F76fs (c.224_225insA) -1893 F91* (c.272_273delinsAA) -3105 F?C (c.?T>G) -3637 G104FS (c.309_310delTG) -2252 G104fs (c.309delT) -2266 G104fs (c.310delG) -2551 G104fs*158 (c.311delC) -3085 G104fs*23 (c.309_322del14) -4084 G106Tfs*54 (c.315_316insAC) -2073 G106fs (c.316insA) -4174 G114D (c.340+1G>A) -2455 G114Vfs*45 (c.339delA) -2129 G114dup (c.342dupGGT) -2153 G114fs (c.326_339dupTCCACAGCTACCGA) -2135 G123fs (c.369_375delGACACAC) -3099 G127_L128delinsGF (c.381_382delinsTT) -4172 G144Dfs*15 (c.431del) -4211 G144R (c.430G>A) and c.340+694_340+711dup -2319 G144fs (c.429_430insGGAC) -2320 G144fs (c.430_433delGGAC) -1949 G144fs (c.432insG) -3736 G30Dfs*32 (c.89_297del) -2961 G336fs563X (c.1007_1013del) -3046 G34Rfs(c.99_100insA) -3263 G93A (c.278G>C) -2097 G93_Y98del (c.275_292del) -1812 G93fs (c.278delG) -2346 Glu34Lys (c.100G>A) -4185 H115Pfs*44(c.344delA) and P61=(c.183C>G) -2540 H115Q (c.346C>A) -2136 H125fs (c.374insA) -4093 H191Tfs*11 (c.571del) -2328 H191fs (c.570_574delCCACC) -1965 I109TfsX50 (c.326delT) -2095 I151fs (c.452insA) -3136 I75Sfs*84 (c.223del) -3154 I75Yfs*57 (c.224dupT) -2487 I75del (c.221delTCA) -2134 Intronic deletion (c.341-13delCGTTTCCAACAATTTCTCGGTGT) -2311 K114fs (c.339_340delAG) -3354 K159* (c.474_475insT) -4088 K159Efs*15 (c.473dup) -4089 K159delinsI* (c.475_476insTTT) -4100 K159fs (c.472_473insT) -2040 K159fs (c.477_478insCA) -2327 K171fs (c.512_516delAGCCT) -2140 K196fs (c.584_585delAG) -2499 K196fs (c.588insA) -3294 L101G (c.301_302delCTinsGG) -2312 L116fs (c.347delT) -2381 L118P (c.353T>C) and R107G (c.319C>G) -2313 L118fs (c.349_350insG) -1768 L129Q (c.386insAGA) -3172 L129Wfs*?(c.383delT) -1996 L129fs (c.384delT) -2557 L135fs (c.405delA) -3119 L140PfsX4 (c.418dup) -4087 L140Qfs*3 (c.419_420del) -3753 L140Sfs*4 (c.417dup) -1960 L140fs (c.417_418delTC) -3513 L140fs*3 (c.419_420delTC) -4236 L153Q (c.458T>A) -1802 L153fs (c.457delC) -2324 L158_K159del (c.472_477del) -4160 L158dup (c.473_474insTTT) -3278 L163R (c.488T>G) -2459 L178P (c.532C>T) -3091 L178P (c.533T>A) -4092 L178_D179insRVKPEL (c.531_532insCTGAGAGTAAAGCCTGAA) -4238 L188V(c.562C>G) -4199 L188del (c.562_564delCTG) -4156 L198Gfs*57 (c.592_593del) -3480 L198P (c.593T>C) and P25L (c.74C>T) -4225 L201P (c.602T>C) -2262 L63fs (c.187delC) -2087 L63fs (c.189_192delGCGC) -2506 L85_E94del (c.254_283del30bp) -1925 L85fs (c.253_254ins38) -2305 L85fs (c.253delC) -3164 L89S (c.265C>T) -3720 M3I(c.3G>A) and M211L (c.631A>C) -2497 M54Gfs*77 (c.160_161delAT) -2269 M54_A56del (c.159_168del) -2545 M54fs (c.160_175del) -2473 M54fs (c.160delA) -1981 N100fsX131 (c.298_299InsA) -4271 N131*(c.390dupT) -2315 N131fs (c.389delT) -2272 N141fs (c.421_422delAA) -1823 N141fs (c.422del) -3186 N150Ifs*9 (c.449del) -2029 N150fs (c.445_458del) -3493 N150fs (c.446delC) -3743 N150fs (c.448delA) -3759 N174FS*29 (c.519insAA) -3317 N174Lfs (c.520_521del) -2253 N174fs (c.520delA) -4230 N193fs (c.576delA) -3655 N67_V74del (c.197_220del) -4078 N67_V74del (c.197_221del) -4159 N67_V74del (c.198_221del) -2547 N67fs (c.197_213del) -4201 N90del (c.268_270del) -2309 N90fs (c.269delA) -1978 Null (c.-678-?_340+?del) -1979 Null (c.-678-?_642+?del) -4264 Null (c.341+1_341–1) -3248 P103H (c.308C>A) -4265 P119L (c.355T>C) -2526 P146Gfs*14 (c.435_436insGG) -3162 P154= (c.462A>G) -4262 P154Qfs4*(c.461delC) -2879 P154Rfs (c.461_462delCA) -2274 P172fs (c.514delC) -4263 P192L (c.575C>T) -3353 P192R (c.575C>G) -4165 P25L (c.74C>T) AND D126Rfs*6 (c.375_376insA) AND E55Rfs(c.163delG) -3087 P25L (c.74C>T) and P86T (c.256C>A) -3491 P2=(c.6C>G) -4176 P2=(c.6C>G) and P81S(c.241C>T) -2090 P40fs (c.118ins) -4233 P45R (c.134C>G) -4202 P59_R64del (c.174_191del) -2474 P59fs (c.176insAGCAdelTCCTGCGCT) -3076 P61_C77del (c.181_231del) -2303 P61_S65del (c.183_195del) -2263 P61fs (c.181delC) -2121 P61fs (c.181delCCGT) -2014 P61fs (c.183insC) -2546 P61fs Stop at 121(c.180_208del) -4080 P71Lfs*61 (c.211_212insT) -1955 P71fs (c.211insT) -4097 P76del (c.227_229del) -3298 P81S (c.241C>T) and L188V (c.562C>G) -3185 P86Afs*46 (c.254_255insC) -2496 P86S (c.256C>T) and Splice Region (c.340+5G>C) -1942 P86S (c.257C>T) -2306 P86fs (c.255_256delGC) -3190 P95Rfs*64 (c.284del) -2515 P97Afs*35 (c.287_288insA) -3199 P97L (c.290C>T) and L116P (c.347T>C) -4189 Partial Deletion and P61=( c.183C>G) -2443 Q132Hfs*45 (c.343_395dup) -2267 Q132fs (c.395_396delAA) -2321 Q145H (c.435G>T) -2155 Q145Tfs* (c.432_433insA) -2525 Q145fs (c.433_437delCAGCC) -4212 Q164H (c.492G>T) and c.340+574A>T -4094 Q203Gfs*52 (c.607_608del) -2383 Q203TfsX53 (c.606dupA) -3657 Q203fs (c.607_608delCA) -2002 Q73FS (c.215delC) -2444 Q73Pfs*59 (c.217dupC) -2131 Q73fs (c.214insGCCC) -3145 Q96_P102del (c.287_307del) -4110 Q96del (c.287_289del) -2251 Q96fs (c.286insT) -3176 R107Pfs*25(c.314_315insC) -4227 R107S (c.319C>A) -3132 R108Hfs*23 (c.323_324del) -4085 R108Lfs*52 (c.322_323insTG) -3633 R108dup (c.322_324dupCGC) -3656 R108fs (c.322_323insTG) -2537 R108fs (c.323delGC) -2552 R120fs*158 (c.359delG) -2996 R1273* (c.3817C>T) -4096 R161* (c.481C>T) AND R200fs (c.598del) -2273 R161fs (c.481insC) -3103 R167G (c.500G>A) -4167 R167Q (c.500G>A) and I151N (c.452T>A) -4166 R167Q (c.500G>A) and T105M (c.314C>T) -3121 R167Q(c.500G>A) -4180 R167Q(c.500G>A) and P81S(c.241C>T) -4210 R167Q(c.500G>A) and c.464-94T>A -4239 R167W(c.499C>T) -2486 R167fs (c.501insTTGTCCGT) -1779 R167fs (c.502insTTGTCCGT) -3187 R176Gfs*26 (c.526del) -3355 R177SFS*22 (c.531_542delinsTC) -4266 R177Tfs*23 (c.530_536del) -3191 R177_L178ins6 (c.531_532ins18) -2181 R177ins (c.531insCTGAGAGTAAAGCCTGAA) -3044 R197_L198ins7(c.572_592dup) -3192 R200W (c.598C>T) and R161Q (c.482G>A) -4190 R200W (c.598C>T) and V130L (c.388G>C) -4208 R200W (c.598C>T) and c.340+694_340+711dup -4095 R205Hfs*50 (c.614_615del) -3658 R205fs (c.614_615delGC) -2965 R292X (c.877C>T) -3134 R31* (c.91C>T) -2959 R474C c.1420C>T -1964 R60FS (c.179delG) -2510 R69AFS*63 (c.204_205insG) -4079 R69Afs*63 (c.204dup) -1948 R69fs (c.204insG) -4204 R79G (c.235C>G) -2448 R79_S80del (c.236_241delGCAGTC) -3013 R82_V84del (c.243delGCGCGTCGT) -2264 R82_V84del (c.244_252del) -3747 S111I (c.332G>T) -4171 S111N (c.332G>A) -2316 S139fs (c.415insC) -4154 S168Tfs*2 (c.503_513del) -4076 S43_E47del (c.123_137del) -4231 S43_E47dup (c.123_137dup) -4099 S65* (c.189_192del) -2535 S65L (c.194C>T) -3015 S72Afs*? (c.213_214insGCCC) -3704 S72fs (c.214_215insGCCC) -2462 S72fs (c.216delC) -4109 S80Ifs*79 (c.239del) -4184 S80N (c.239G>A) and P25L (c.74C>T) -2518 Splice Region (c.340 3_340 10delACGGGCCCinsCG) -4162 Splice Region (c.340+1_340+5del) -4226 Splice Region (c.340+2T>C) -3107 Splice Region (c.464-3C>T) -4086 Splice Site (c.340+2_340+6del) -4254 Splice Site (c.340+563C>T) -4255 Splice Site (c.340+578C>T) -4256 Splice Site (c.340+617C>G) -4257 Splice Site (c.340+682T>C) -4258 Splice Site (c.340+725A>T) -4259 Splice Site (c.340+866C>A) -4243 Splice Site (c.341-3T>G) -3436 Splice Site (c.341-6C>T) -2457 Splice Site (c.464-2G>A) -3370 Splice site (c.463+2A>C) -3150 T100Nfs*32 (c.298dupA) -2471 T104fs (c.313_315delC) -4235 T105M (c.314C>T) -1954 T105fs (c.315insAC) -4205 T124P (c.370A>C) -3479 T124del (c.369_371del) -2314 T124fs (c.370_371insTGCAGGA) -3738 T133Nfs*2 (c.397dup) -2556 T133fs*157 (c.397_400delACTG) -2091 T152fs (c.455insA) -2092 T157fs (c.472ins) -2094 T157fs (c.472ins1-nt) -2142 T202fs (c.606insA) -2539 V114R (c.341T>C) -2086 V130I (c.388G>A) and R200W (c.598C>T) -4246 V130P (c.388G>T) -3366 V130Wfs*30 (c.385_386dup) -4198 V155= (c.465G>C) -2046 V155L (c.463G>C) -3985 V155L (c.463G>T) -2477 V155fs (c.464_468delTGTAT) -3748 V165G (c.494T>G) -4091 V165Lfs*5 (c.492del) -4279 V165fs (c.493del) -3089 V166Dfs*9 (c.480_481insCGATGCCTCCAGGT) -3362 V166SFS*4 (c.496_506del) -2325 V166fs (c.498delC) -3086 V181fs (c.541delG) -1977 V194fs (c.581_582del) -3184 V62Cfs*5 (c.180del) -2509 V62Efs*71 (c.185_193delTGCTGCGCTinsAGCA) -3189 V62Gfs*66 (c.185_195del) -3261 V62fs (c.180delG) -2447 V66Gfs*89 (c.197_209del) -2099 V66del (c.197_220del) -2445 V74Sfs*53 (c.219_232delGGTCATCTTCTGCA) -4281 V74fs (c.220del) -2548 V84fs (c.249_255del) -4179 V87Gfs*71(c.260_263del) and P81S(c.241C>T) -3741 V87fs (c.255_256insC) -2470 W117C (c.351G>X) -3142 W117Cfs*42 (c.351del) -3715 W117R (c.349T>C) -3634 W117fs (c.349dupT) -3739 Y175Tfs*27 (c.523del) -3352 Y98Afs(c.282_291dup) -2450 Y98C (c.293A>G) -3021 c.-195G>A -3034 c.-195G>A/C -2634 c.-61_-51dup11 -3174 c.-65_-55dup11 -2633 c.-77_-32del -3035 c.1149A>G -2373 c.128-?_250+? -3727 c.1285dupC -3002 c.1396C>T -3267 c.1477C>T -2884 c.151-1G>C -3404 c.209+5G>A -2374 c.251-?_429+? -4151 c.329ins2 -4228 c.340+384G>C -4213 c.340+617C>G and c.340+648T>C -4209 c.340+694_340+711dup -3041 c.340+770T>C -4178 c.340+770T>C and R200W (c.598C>T) -2435 c.341-59_341-14del -4197 c.341-59_341-14del AND F136fs (c.408delT) -4152 c.358ins2 -3088 c.463+2T>G -3365 c.463+37_463+39del -3159 c.463+43A>G -4173 c.502ins8bp -2507 c.516_517dupGTCAAGCCT and c.532_542delCTGGACATCGTinsATTA -4157 c.563ins20 -3047 c.56_57DupInvCGGGAGGC -3039 c.652T>A -3050 c.7089+1del -3051 c.7515+1_2del -2433 c.89c297 -3049 c.902-1G>T -3101 c.–65_–55dup11 -4191 c.–65_–55dup11 AND 3' UTR alteration (c.*1149A>G) -2431 c.−213− ?_463 ?del -4247 p.L159Es*15 (c.473dup) +variant_id variant_name variant_accepted +4170 3'UTR alteration (c.*70C>T) False +4214 T124I (c.371C>T) False +4216 W8* (c.23G>A) False +4278 Y112C (c.335A>G) False +4232 c.212+1G>T False +3196 *214Gext*14 (c.640T>G) False +2930 106insR (c.316insGCC) True +3083 180fs*22 (c.540delC) False +3102 3' UTR alteration (c.*1149A>G) False +2482 A149fs (c.446delG) False +2023 A149fs (c.449del14-nt) True +2962 A28fsX109 (c.83insG) False +2442 A50= (c.150C>G) and Splice Site (c.463-1G>T) False +2265 A56_P59del (c.166_178del) True +3170 C162Wfs*12(c.485dupG) False +4181 C162Y(c.486C>G) and L188V(c.562C>G) and P81S(c.241C>T) and F119L(c.357C>G) False +4108 C77Sfs*82 (c.230del) False +3245 C77fs (c.230del) True +3567 D121Y(c.361G>T) False +2553 D121_A122del (c.361_366del) True +3156 D126Efs* (c.377_378insG) False +1918 D126FS (c.375_376insC) True +3179 D126N (c.376G>A) / S183L (c.548C>T) False +4207 D143= (c.429C>T) and c.340+770T>C False +4153 D143Efs*13 (c.429_438del) False +1844 D143fs (c.430delG) True +2479 D197Rfs* (c.588_588dupA) False +3260 D213E (c.639T>G) False +2673 D679N (c.2035G>A) False +3360 D92V (c.275A>T) False +2963 D96H (c.238G>C) False +4192 Deletion AND I151S(c.452T>G) False +4193 Deletion AND R200W (c.598C>T) False +4194 Deletion AND R69C (c.205C>T) False +4155 E173Rfs*29 (c.516del) False +2529 E189_D190del (c.565_570delGAAGAC) False +4234 E21A (c.62A>C) False +4275 E31= (c.93G>A) False +3383 E52*(c.156G>T) False +1735 E52fs* (c.156G>T) False +3635 E55* (c.162_163insT) False +4077 E55Gfs*77 (c.163dup) False +2301 E55fs (c.162delG) False +3744 E55fs (c.163delG) False +3654 E55fs (c.163dupG) False +3036 E70Dfs(c.210delG) False +2538 E70K (c.208G>A) and Splice Region (c.340+5G>C) False +2304 E70fs (c.209_210delAG) False +4161 E73* (c.217C>T) False +2310 E94_P97del (c.281_291del) False +4168 Exon 1-3 Deletion and P81S (c.241C>T) False +4169 Exon 1-3 Deletion and Splice Region (c.340+5G>C) False +4250 Exon 3 deletion (c.464-11 T>A) False +4245 Exon 3 deletion AND S139C (c.416C>G) False +4206 F136C (c.407G>T) False +3984 F136L (c.406T>C) False +3363 F136LFS*23 (c.408del) False +3295 F136V (c.406T>G) False +2423 F136fs (c.407delC) False +2558 F137fs (c.408insT) False +3143 F148* (c.443_455delinsA) False +3129 F148Lfs*11 (c.444del) False +2096 F158ins (c.472insTTT) False +2542 F190L (c.568T>C) False +4083 F76* (c.227T>A; c.228C>A) False +4082 F76_C77del (c.226_231del) False +2271 F76_N78del (c.226_232del) False +3494 F76del (c.224_226delTTC) False +4081 F76del (c.226_228del) False +3577 F76del (c.226_228delTTC) False +3157 F76del (c.227_229del) True +2018 F76del (c.227_229delTCT) False +3632 F76fs (c.224_225insA) False +1893 F91* (c.272_273delinsAA) True +3105 F?C (c.?T>G) False +3637 G104FS (c.309_310delTG) False +2252 G104fs (c.309delT) False +2266 G104fs (c.310delG) False +2551 G104fs*158 (c.311delC) False +3085 G104fs*23 (c.309_322del14) False +4084 G106Tfs*54 (c.315_316insAC) False +2073 G106fs (c.316insA) False +4174 G114D (c.340+1G>A) False +2455 G114Vfs*45 (c.339delA) True +2129 G114dup (c.342dupGGT) True +2153 G114fs (c.326_339dupTCCACAGCTACCGA) False +2135 G123fs (c.369_375delGACACAC) True +3099 G127_L128delinsGF (c.381_382delinsTT) False +4172 G144Dfs*15 (c.431del) False +4211 G144R (c.430G>A) and c.340+694_340+711dup False +2319 G144fs (c.429_430insGGAC) False +2320 G144fs (c.430_433delGGAC) False +1949 G144fs (c.432insG) True +3736 G30Dfs*32 (c.89_297del) False +2961 G336fs563X (c.1007_1013del) False +3046 G34Rfs(c.99_100insA) False +3263 G93A (c.278G>C) False +2097 G93_Y98del (c.275_292del) True +1812 G93fs (c.278delG) False +2346 Glu34Lys (c.100G>A) False +4185 H115Pfs*44(c.344delA) and P61=(c.183C>G) False +2540 H115Q (c.346C>A) False +2136 H125fs (c.374insA) True +4093 H191Tfs*11 (c.571del) False +2328 H191fs (c.570_574delCCACC) False +1965 I109TfsX50 (c.326delT) False +2095 I151fs (c.452insA) False +3136 I75Sfs*84 (c.223del) False +3154 I75Yfs*57 (c.224dupT) False +2487 I75del (c.221delTCA) False +2134 Intronic deletion (c.341-13delCGTTTCCAACAATTTCTCGGTGT) True +2311 K114fs (c.339_340delAG) False +3354 K159* (c.474_475insT) False +4088 K159Efs*15 (c.473dup) False +4089 K159delinsI* (c.475_476insTTT) False +4100 K159fs (c.472_473insT) False +2040 K159fs (c.477_478insCA) True +2327 K171fs (c.512_516delAGCCT) False +2140 K196fs (c.584_585delAG) True +2499 K196fs (c.588insA) False +3294 L101G (c.301_302delCTinsGG) False +2312 L116fs (c.347delT) False +2381 L118P (c.353T>C) and R107G (c.319C>G) False +2313 L118fs (c.349_350insG) False +1768 L129Q (c.386insAGA) True +3172 L129Wfs*?(c.383delT) False +1996 L129fs (c.384delT) True +2557 L135fs (c.405delA) False +3119 L140PfsX4 (c.418dup) False +4087 L140Qfs*3 (c.419_420del) False +3753 L140Sfs*4 (c.417dup) False +1960 L140fs (c.417_418delTC) True +3513 L140fs*3 (c.419_420delTC) False +4236 L153Q (c.458T>A) False +1802 L153fs (c.457delC) True +2324 L158_K159del (c.472_477del) False +4160 L158dup (c.473_474insTTT) False +3278 L163R (c.488T>G) False +2459 L178P (c.532C>T) True +3091 L178P (c.533T>A) False +4092 L178_D179insRVKPEL (c.531_532insCTGAGAGTAAAGCCTGAA) False +4238 L188V(c.562C>G) False +4199 L188del (c.562_564delCTG) False +4156 L198Gfs*57 (c.592_593del) False +3480 L198P (c.593T>C) and P25L (c.74C>T) False +4225 L201P (c.602T>C) False +2262 L63fs (c.187delC) False +2087 L63fs (c.189_192delGCGC) False +2506 L85_E94del (c.254_283del30bp) False +1925 L85fs (c.253_254ins38) False +2305 L85fs (c.253delC) False +3164 L89S (c.265C>T) False +3720 M3I(c.3G>A) and M211L (c.631A>C) False +2497 M54Gfs*77 (c.160_161delAT) False +2269 M54_A56del (c.159_168del) False +2545 M54fs (c.160_175del) False +2473 M54fs (c.160delA) False +1981 N100fsX131 (c.298_299InsA) False +4271 N131*(c.390dupT) False +2315 N131fs (c.389delT) False +2272 N141fs (c.421_422delAA) False +1823 N141fs (c.422del) False +3186 N150Ifs*9 (c.449del) False +2029 N150fs (c.445_458del) True +3493 N150fs (c.446delC) False +3743 N150fs (c.448delA) False +3759 N174FS*29 (c.519insAA) False +3317 N174Lfs (c.520_521del) False +2253 N174fs (c.520delA) False +4230 N193fs (c.576delA) False +3655 N67_V74del (c.197_220del) False +4078 N67_V74del (c.197_221del) False +4159 N67_V74del (c.198_221del) False +2547 N67fs (c.197_213del) False +4201 N90del (c.268_270del) False +2309 N90fs (c.269delA) False +1978 Null (c.-678-?_340+?del) False +1979 Null (c.-678-?_642+?del) False +4264 Null (c.341+1_341–1) False +3248 P103H (c.308C>A) False +4265 P119L (c.355T>C) False +2526 P146Gfs*14 (c.435_436insGG) False +3162 P154= (c.462A>G) False +4262 P154Qfs4*(c.461delC) False +2879 P154Rfs (c.461_462delCA) False +2274 P172fs (c.514delC) False +4263 P192L (c.575C>T) False +3353 P192R (c.575C>G) False +4165 P25L (c.74C>T) AND D126Rfs*6 (c.375_376insA) AND E55Rfs(c.163delG) False +3087 P25L (c.74C>T) and P86T (c.256C>A) False +3491 P2=(c.6C>G) False +4176 P2=(c.6C>G) and P81S(c.241C>T) False +2090 P40fs (c.118ins) True +4233 P45R (c.134C>G) False +4202 P59_R64del (c.174_191del) False +2474 P59fs (c.176insAGCAdelTCCTGCGCT) False +3076 P61_C77del (c.181_231del) False +2303 P61_S65del (c.183_195del) False +2263 P61fs (c.181delC) False +2121 P61fs (c.181delCCGT) False +2014 P61fs (c.183insC) True +2546 P61fs Stop at 121(c.180_208del) False +4080 P71Lfs*61 (c.211_212insT) False +1955 P71fs (c.211insT) True +4097 P76del (c.227_229del) False +3298 P81S (c.241C>T) and L188V (c.562C>G) False +3185 P86Afs*46 (c.254_255insC) False +2496 P86S (c.256C>T) and Splice Region (c.340+5G>C) False +1942 P86S (c.257C>T) False +2306 P86fs (c.255_256delGC) False +3190 P95Rfs*64 (c.284del) False +2515 P97Afs*35 (c.287_288insA) False +3199 P97L (c.290C>T) and L116P (c.347T>C) False +4189 Partial Deletion and P61=( c.183C>G) False +2443 Q132Hfs*45 (c.343_395dup) False +2267 Q132fs (c.395_396delAA) False +2321 Q145H (c.435G>T) False +2155 Q145Tfs* (c.432_433insA) False +2525 Q145fs (c.433_437delCAGCC) False +4212 Q164H (c.492G>T) and c.340+574A>T False +4094 Q203Gfs*52 (c.607_608del) False +2383 Q203TfsX53 (c.606dupA) False +3657 Q203fs (c.607_608delCA) False +2002 Q73FS (c.215delC) False +2444 Q73Pfs*59 (c.217dupC) False +2131 Q73fs (c.214insGCCC) True +3145 Q96_P102del (c.287_307del) False +4110 Q96del (c.287_289del) False +2251 Q96fs (c.286insT) False +3176 R107Pfs*25(c.314_315insC) False +4227 R107S (c.319C>A) False +3132 R108Hfs*23 (c.323_324del) False +4085 R108Lfs*52 (c.322_323insTG) False +3633 R108dup (c.322_324dupCGC) False +3656 R108fs (c.322_323insTG) False +2537 R108fs (c.323delGC) False +2552 R120fs*158 (c.359delG) False +2996 R1273* (c.3817C>T) False +4096 R161* (c.481C>T) AND R200fs (c.598del) False +2273 R161fs (c.481insC) False +3103 R167G (c.500G>A) False +4167 R167Q (c.500G>A) and I151N (c.452T>A) False +4166 R167Q (c.500G>A) and T105M (c.314C>T) False +3121 R167Q(c.500G>A) False +4180 R167Q(c.500G>A) and P81S(c.241C>T) False +4210 R167Q(c.500G>A) and c.464-94T>A False +4239 R167W(c.499C>T) False +2486 R167fs (c.501insTTGTCCGT) False +1779 R167fs (c.502insTTGTCCGT) False +3187 R176Gfs*26 (c.526del) False +3355 R177SFS*22 (c.531_542delinsTC) False +4266 R177Tfs*23 (c.530_536del) False +3191 R177_L178ins6 (c.531_532ins18) False +2181 R177ins (c.531insCTGAGAGTAAAGCCTGAA) True +3044 R197_L198ins7(c.572_592dup) False +3192 R200W (c.598C>T) and R161Q (c.482G>A) False +4190 R200W (c.598C>T) and V130L (c.388G>C) False +4208 R200W (c.598C>T) and c.340+694_340+711dup False +4095 R205Hfs*50 (c.614_615del) False +3658 R205fs (c.614_615delGC) False +2965 R292X (c.877C>T) False +3134 R31* (c.91C>T) False +2959 R474C c.1420C>T True +1964 R60FS (c.179delG) True +2510 R69AFS*63 (c.204_205insG) False +4079 R69Afs*63 (c.204dup) False +1948 R69fs (c.204insG) True +4204 R79G (c.235C>G) False +2448 R79_S80del (c.236_241delGCAGTC) True +3013 R82_V84del (c.243delGCGCGTCGT) False +2264 R82_V84del (c.244_252del) True +3747 S111I (c.332G>T) False +4171 S111N (c.332G>A) False +2316 S139fs (c.415insC) False +4154 S168Tfs*2 (c.503_513del) False +4076 S43_E47del (c.123_137del) False +4231 S43_E47dup (c.123_137dup) False +4099 S65* (c.189_192del) False +2535 S65L (c.194C>T) False +3015 S72Afs*? (c.213_214insGCCC) False +3704 S72fs (c.214_215insGCCC) False +2462 S72fs (c.216delC) False +4109 S80Ifs*79 (c.239del) False +4184 S80N (c.239G>A) and P25L (c.74C>T) False +2518 Splice Region (c.340 3_340 10delACGGGCCCinsCG) False +4162 Splice Region (c.340+1_340+5del) False +4226 Splice Region (c.340+2T>C) False +3107 Splice Region (c.464-3C>T) False +4086 Splice Site (c.340+2_340+6del) False +4254 Splice Site (c.340+563C>T) False +4255 Splice Site (c.340+578C>T) False +4256 Splice Site (c.340+617C>G) False +4257 Splice Site (c.340+682T>C) False +4258 Splice Site (c.340+725A>T) False +4259 Splice Site (c.340+866C>A) False +4243 Splice Site (c.341-3T>G) False +3436 Splice Site (c.341-6C>T) False +2457 Splice Site (c.464-2G>A) False +3370 Splice site (c.463+2A>C) False +3150 T100Nfs*32 (c.298dupA) False +2471 T104fs (c.313_315delC) False +4235 T105M (c.314C>T) False +1954 T105fs (c.315insAC) False +4205 T124P (c.370A>C) False +3479 T124del (c.369_371del) False +2314 T124fs (c.370_371insTGCAGGA) False +3738 T133Nfs*2 (c.397dup) False +2556 T133fs*157 (c.397_400delACTG) False +2091 T152fs (c.455insA) True +2092 T157fs (c.472ins) True +2094 T157fs (c.472ins1-nt) False +2142 T202fs (c.606insA) True +2539 V114R (c.341T>C) False +2086 V130I (c.388G>A) and R200W (c.598C>T) False +4246 V130P (c.388G>T) False +3366 V130Wfs*30 (c.385_386dup) False +4198 V155= (c.465G>C) False +2046 V155L (c.463G>C) True +3985 V155L (c.463G>T) False +2477 V155fs (c.464_468delTGTAT) False +3748 V165G (c.494T>G) False +4091 V165Lfs*5 (c.492del) False +4279 V165fs (c.493del) False +3089 V166Dfs*9 (c.480_481insCGATGCCTCCAGGT) False +3362 V166SFS*4 (c.496_506del) False +2325 V166fs (c.498delC) False +3086 V181fs (c.541delG) False +1977 V194fs (c.581_582del) True +3184 V62Cfs*5 (c.180del) True +2509 V62Efs*71 (c.185_193delTGCTGCGCTinsAGCA) False +3189 V62Gfs*66 (c.185_195del) False +3261 V62fs (c.180delG) False +2447 V66Gfs*89 (c.197_209del) True +2099 V66del (c.197_220del) True +2445 V74Sfs*53 (c.219_232delGGTCATCTTCTGCA) False +4281 V74fs (c.220del) False +2548 V84fs (c.249_255del) False +4179 V87Gfs*71(c.260_263del) and P81S(c.241C>T) False +3741 V87fs (c.255_256insC) False +2470 W117C (c.351G>X) False +3142 W117Cfs*42 (c.351del) False +3715 W117R (c.349T>C) False +3634 W117fs (c.349dupT) False +3739 Y175Tfs*27 (c.523del) False +3352 Y98Afs(c.282_291dup) False +2450 Y98C (c.293A>G) False +3021 c.-195G>A False +3034 c.-195G>A/C False +2634 c.-61_-51dup11 False +3174 c.-65_-55dup11 False +2633 c.-77_-32del False +3035 c.1149A>G False +2373 c.128-?_250+? True +3727 c.1285dupC True +3002 c.1396C>T True +3267 c.1477C>T False +2884 c.151-1G>C True +3404 c.209+5G>A False +2374 c.251-?_429+? False +4151 c.329ins2 False +4228 c.340+384G>C False +4213 c.340+617C>G and c.340+648T>C False +4209 c.340+694_340+711dup False +3041 c.340+770T>C False +4178 c.340+770T>C and R200W (c.598C>T) False +2435 c.341-59_341-14del True +4197 c.341-59_341-14del AND F136fs (c.408delT) False +4152 c.358ins2 False +3088 c.463+2T>G False +3365 c.463+37_463+39del False +3159 c.463+43A>G False +4173 c.502ins8bp False +2507 c.516_517dupGTCAAGCCT and c.532_542delCTGGACATCGTinsATTA False +4157 c.563ins20 False +3047 c.56_57DupInvCGGGAGGC False +3039 c.652T>A False +3050 c.7089+1del True +3051 c.7515+1_2del True +2433 c.89c297 False +3049 c.902-1G>T True +3101 c.–65_–55dup11 False +4191 c.–65_–55dup11 AND 3' UTR alteration (c.*1149A>G) False +2431 c.−213− ?_463 ?del True +4247 p.L159Es*15 (c.473dup) False diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index 5b49def3..722b2d92 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -1,70 +1,70 @@ -variant_id query query_type exception_raised message warnings -748 MLH1 *757L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3718 AR A748V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3725 AR A765T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2844 MITF Amplificatioin protein False unable to normalize ['Unable to tokenize Amplificatioin'] -248 TERT C228T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -4004 TERT C250T protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3706 AR D221H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3713 AR D528G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2833 NECTIN4 D594H protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2514 3-10183806-A-CC genomic False unable to normalize ['Unable to find valid result for classifications: set()'] -2414 MAP2K1 E102_I103delEI protein False unable to normalize ['Unable to tokenize E102_I103delEI'] -3707 AR E198G protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -457 FCGR3A F212V protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3450 BRAF F594L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3793 TP53 G177E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3152 GNA11 G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3153 GNAQ G209P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3443 BRAF G465A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3441 BRAF G468A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -4298 FGFR3 G802_X807del protein False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" -3448 BRAF I462S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2137 3-10191481-GAA-C genomic False unable to normalize ['Unable to find valid result for classifications: set()'] -2815 H3C2 K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3939 H3-3A K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3944 H3C14 K27M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3594 H3-3A K27R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2420 H3-3B K36M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2696 KIT K550_K559DEL protein False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" -3455 BRAF K600E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3714 AR K720E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1638 EGFR K745_E749delKELRE protein False unable to normalize ['Unable to tokenize K745_E749delKELRE'] -4114 TP53 L139N protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -424 MYD88 L265P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1540 PDGFRA L579M protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1309 ERBB2 L638S protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3717 AR L744F protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1007 EGFR L747_T751delLREAT protein False unable to normalize ['Unable to tokenize L747_T751delLREAT'] -3435 MYOD1 MYOD1 L122R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3719 AR N756D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3711 AR P340L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3712 AR P504L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1497 KIT P551_E554delPMYE protein False unable to normalize ['Unable to tokenize P551_E554delPMYE'] -1643 SCN8A Q225X protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2700 CBL Q294E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3726 AR Q798E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1975 3-10191506-CGGAGC-T genomic False unable to normalize ['Unable to find valid result for classifications: set()'] -3069 NTRK3 R248C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3447 BRAF R461I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3716 AR R726L protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3674 NOTCH1 S2514A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3676 NOTCH1 S2514E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3677 NOTCH1 S2514P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3709 AR S296R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -891 EGFR S752_I759delSPKANKEI protein False unable to normalize ['Unable to tokenize S752_I759delSPKANKEI'] -3723 AR S759P protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3675 NOTCH1 T2512A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1546 KIT T417_D419DELTYDINSI protein False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] -3445 BRAF T598I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2624 TP53 V135A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3452 BRAF V599D protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3446 BRAF V599E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3453 BRAF V599K protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3454 BRAF V599R protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2825 BRAF V601E protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3721 AR V757A protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3722 AR V757I protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1539 PDGFRA W559_R560DELWR protein False unable to normalize ['Unable to tokenize W559_R560DELWR'] -1542 KIT Y553_W557DELYEVQW protein False unable to normalize ['Unable to tokenize Y553_W557DELYEVQW'] -3724 AR Y763C protein False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +variant_id query query_type variant_accepted exception_raised message warnings +748 MLH1 *757L protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3718 AR A748V protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3725 AR A765T protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2844 MITF Amplificatioin protein False False unable to normalize ['Unable to tokenize Amplificatioin'] +248 TERT C228T protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4004 TERT C250T protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3706 AR D221H protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3713 AR D528G protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2833 NECTIN4 D594H protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2514 3-10183806-A-CC genomic False False unable to normalize ['Unable to find valid result for classifications: set()'] +2414 MAP2K1 E102_I103delEI protein False False unable to normalize ['Unable to tokenize E102_I103delEI'] +3707 AR E198G protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +457 FCGR3A F212V protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3450 BRAF F594L protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3793 TP53 G177E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3152 GNA11 G209P protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3153 GNAQ G209P protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3443 BRAF G465A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3441 BRAF G468A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4298 FGFR3 G802_X807del protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" +3448 BRAF I462S protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2137 3-10191481-GAA-C genomic True False unable to normalize ['Unable to find valid result for classifications: set()'] +2815 H3C2 K27M protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3939 H3-3A K27M protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3944 H3C14 K27M protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3594 H3-3A K27R protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2420 H3-3B K36M protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2696 KIT K550_K559DEL protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" +3455 BRAF K600E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3714 AR K720E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1638 EGFR K745_E749delKELRE protein False False unable to normalize ['Unable to tokenize K745_E749delKELRE'] +4114 TP53 L139N protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +424 MYD88 L265P protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1540 PDGFRA L579M protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1309 ERBB2 L638S protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3717 AR L744F protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1007 EGFR L747_T751delLREAT protein False False unable to normalize ['Unable to tokenize L747_T751delLREAT'] +3435 MYOD1 MYOD1 L122R protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3719 AR N756D protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3711 AR P340L protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3712 AR P504L protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1497 KIT P551_E554delPMYE protein True False unable to normalize ['Unable to tokenize P551_E554delPMYE'] +1643 SCN8A Q225X protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2700 CBL Q294E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3726 AR Q798E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1975 3-10191506-CGGAGC-T genomic False False unable to normalize ['Unable to find valid result for classifications: set()'] +3069 NTRK3 R248C protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3447 BRAF R461I protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3716 AR R726L protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3674 NOTCH1 S2514A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3676 NOTCH1 S2514E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3677 NOTCH1 S2514P protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3709 AR S296R protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +891 EGFR S752_I759delSPKANKEI protein False False unable to normalize ['Unable to tokenize S752_I759delSPKANKEI'] +3723 AR S759P protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3675 NOTCH1 T2512A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1546 KIT T417_D419DELTYDINSI protein False False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] +3445 BRAF T598I protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2624 TP53 V135A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3452 BRAF V599D protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3446 BRAF V599E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3453 BRAF V599K protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3454 BRAF V599R protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +2825 BRAF V601E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3721 AR V757A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +3722 AR V757I protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +1539 PDGFRA W559_R560DELWR protein False False unable to normalize ['Unable to tokenize W559_R560DELWR'] +1542 KIT Y553_W557DELYEVQW protein False False unable to normalize ['Unable to tokenize Y553_W557DELYEVQW'] +3724 AR Y763C protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" From f9314eb4d0c1de992dfe2759f268282e1d4b3188 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Thu, 20 Apr 2023 07:28:00 -0400 Subject: [PATCH 17/29] build: tmp pin dependencies --- Pipfile | 8 +-- requirements-dev.txt | 133 +++++++++++++++++++++---------------------- requirements.txt | 63 ++++++++++---------- setup.cfg | 8 +-- 4 files changed, 106 insertions(+), 106 deletions(-) diff --git a/Pipfile b/Pipfile index 5768c15a..f65daa0f 100644 --- a/Pipfile +++ b/Pipfile @@ -25,9 +25,9 @@ python-dotenv = "*" fastapi = "*" uvicorn = "*" pydantic = "*" -"ga4gh.vrs" = {version = "~=0.8.1.dev0", extras = ["extras"]} -gene-normalizer = "~=0.1.31" +"ga4gh.vrs" = {version = "==0.8.1.dev0", extras = ["extras"]} +gene-normalizer = "==0.1.32" pyliftover = "*" boto3 = "*" -"ga4gh.vrsatile.pydantic" = "~=0.0.11" -cool-seq-tool = ">=0.1.6" +"ga4gh.vrsatile.pydantic" = "==0.0.11" +cool-seq-tool = "==0.1.6" diff --git a/requirements-dev.txt b/requirements-dev.txt index a6c5a48c..3d753a8e 100644 --- a/requirements-dev.txt +++ b/requirements-dev.txt @@ -7,40 +7,40 @@ argon2-cffi==21.3.0 ; python_version >= '3.6' argon2-cffi-bindings==21.2.0 ; python_version >= '3.6' asttokens==2.2.1 asyncpg==0.27.0 ; python_full_version >= '3.7.0' -attrs==22.2.0 ; python_version >= '3.6' +attrs==23.1.0 ; python_version >= '3.7' backcall==0.2.0 backports-datetime-fromisoformat==2.0.0 -beautifulsoup4==4.11.2 ; python_full_version >= '3.6.0' +beautifulsoup4==4.12.2 ; python_full_version >= '3.6.0' biocommons.seqrepo==0.6.5 bioutils==0.5.7 ; python_version >= '3.6' bleach==6.0.0 ; python_version >= '3.7' -boto3==1.26.72 -botocore==1.29.72 ; python_version >= '3.7' +boto3==1.26.116 +botocore==1.29.116 ; python_version >= '3.7' bs4==0.0.1 -canonicaljson==1.6.5 ; python_version >= '3.7' +canonicaljson==2.0.0 ; python_version >= '3.7' certifi==2022.12.7 ; python_version >= '3.6' cffi==1.15.1 cfgv==3.3.1 ; python_full_version >= '3.6.1' -charset-normalizer==3.0.1 +charset-normalizer==3.1.0 ; python_full_version >= '3.7.0' civicpy==3.0.0 click==8.1.3 ; python_version >= '3.7' coloredlogs==15.0.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' -comm==0.1.2 ; python_version >= '3.6' +comm==0.1.3 ; python_version >= '3.6' configparser==5.3.0 ; python_version >= '3.7' cool-seq-tool==0.1.6 -coverage[toml]==7.1.0 ; python_version >= '3.7' +coverage[toml]==7.2.3 ; python_version >= '3.7' cssselect==1.2.0 ; python_version >= '3.7' -debugpy==1.6.6 ; python_version >= '3.7' +cython==0.29.34 ; python_version >= '2.6' and python_version not in '3.0, 3.1, 3.2' +debugpy==1.6.7 ; python_version >= '3.7' decorator==5.1.1 ; python_version >= '3.5' defusedxml==0.7.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' deprecation==2.1.0 distlib==0.3.6 -exceptiongroup==1.1.0 ; python_version < '3.11' executing==1.2.0 -fake-useragent==1.1.1 -fastapi==0.92.0 -fastjsonschema==2.16.2 -filelock==3.9.0 ; python_version >= '3.7' +fake-useragent==1.1.3 +fastapi==0.95.1 +fastjsonschema==2.16.3 +filelock==3.12.0 ; python_version >= '3.7' flake8==6.0.0 flake8-annotations==3.0.0 flake8-docstrings==1.7.0 @@ -52,120 +52,119 @@ gene-normalizer==0.1.32 h11==0.14.0 ; python_version >= '3.7' hgvs==1.5.4 ; python_version >= '3.6' humanfriendly==10.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' -identify==2.5.18 ; python_version >= '3.7' +identify==2.5.22 ; python_version >= '3.7' idna==3.4 ; python_version >= '3.5' -importlib-metadata==6.0.0 ; python_version >= '3.7' +importlib-metadata==6.5.0 ; python_version >= '3.7' inflection==0.5.1 ; python_version >= '3.5' iniconfig==2.0.0 ; python_version >= '3.7' -ipykernel==6.21.2 -ipython==8.10.0 ; python_version >= '3.8' +ipykernel==6.22.0 +ipython==8.12.0 ; python_version >= '3.8' ipython-genutils==0.2.0 -ipywidgets==8.0.4 ; python_version >= '3.7' +ipywidgets==8.0.6 ; python_version >= '3.7' jedi==0.18.2 ; python_version >= '3.6' jinja2==3.1.2 ; python_version >= '3.7' jmespath==1.0.1 ; python_version >= '3.7' jsonschema==3.2.0 jupyter==1.0.0 -jupyter-client==8.0.3 ; python_version >= '3.8' -jupyter-console==6.5.1 ; python_version >= '3.7' -jupyter-core==5.2.0 ; python_version >= '3.8' +jupyter-client==8.2.0 ; python_version >= '3.8' +jupyter-console==6.6.3 ; python_version >= '3.7' +jupyter-core==5.3.0 ; python_version >= '3.8' jupyter-events==0.6.3 ; python_version >= '3.7' -jupyter-server==2.3.0 ; python_version >= '3.8' +jupyter-server==2.5.0 ; python_version >= '3.8' jupyter-server-terminals==0.4.4 ; python_version >= '3.8' jupyterlab-pygments==0.2.2 ; python_version >= '3.7' -jupyterlab-widgets==3.0.5 ; python_version >= '3.7' +jupyterlab-widgets==3.0.7 ; python_version >= '3.7' lxml==4.9.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' -markdown==3.4.1 ; python_version >= '3.7' +markdown==3.4.3 ; python_version >= '3.7' markupsafe==2.1.2 ; python_version >= '3.7' matplotlib-inline==0.1.6 ; python_version >= '3.5' mccabe==0.7.0 ; python_version >= '3.6' mistune==2.0.5 -nbclassic==0.5.1 ; python_version >= '3.7' -nbclient==0.7.2 ; python_full_version >= '3.7.0' -nbconvert==7.2.9 ; python_version >= '3.7' -nbformat==5.7.3 ; python_version >= '3.7' +nbclassic==0.5.5 ; python_version >= '3.7' +nbclient==0.7.3 ; python_full_version >= '3.7.0' +nbconvert==7.3.1 ; python_version >= '3.7' +nbformat==5.8.0 ; python_version >= '3.7' nest-asyncio==1.5.6 ; python_version >= '3.5' -networkx==3.0 ; python_version >= '3.8' +networkx==3.1 ; python_version >= '3.8' nodeenv==1.7.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4, 3.5, 3.6' -notebook==6.5.2 ; python_version >= '3.7' +notebook==6.5.4 ; python_version >= '3.7' notebook-shim==0.2.2 ; python_version >= '3.7' numpy==1.24.2 ; python_version >= '3.8' -obonet==0.3.1 ; python_version >= '3.7' -packaging==23.0 ; python_version >= '3.7' -pandas==1.5.3 ; python_version >= '3.8' +obonet==1.0.0 ; python_version >= '3.7' +packaging==23.1 ; python_version >= '3.7' +pandas==2.0.0 ; python_version >= '3.8' pandocfilters==1.5.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' parse==1.19.0 parsley==1.3 parso==0.8.3 ; python_version >= '3.6' pexpect==4.8.0 ; sys_platform != 'win32' pickleshare==0.7.5 -platformdirs==3.0.0 ; python_version >= '3.7' +platformdirs==3.2.0 ; python_version >= '3.7' pluggy==1.0.0 ; python_version >= '3.6' -pre-commit==3.0.4 +pre-commit==3.2.2 prometheus-client==0.16.0 ; python_version >= '3.6' -prompt-toolkit==3.0.36 ; python_full_version >= '3.6.2' -psutil==5.9.4 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' -psycopg2==2.9.5 ; python_version >= '3.6' -psycopg2-binary==2.9.5 +prompt-toolkit==3.0.38 ; python_full_version >= '3.7.0' +psutil==5.9.5 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' +psycopg2==2.9.6 ; python_version >= '3.6' +psycopg2-binary==2.9.6 ptyprocess==0.7.0 pure-eval==0.2.2 pycodestyle==2.10.0 ; python_version >= '3.6' pycparser==2.21 -pydantic==1.10.5 +pydantic==1.10.7 pydocstyle==6.3.0 ; python_version >= '3.6' pyee==8.2.2 pyflakes==3.0.1 ; python_version >= '3.6' -pygments==2.14.0 ; python_version >= '3.6' +pygments==2.15.1 ; python_version >= '3.7' pyliftover==0.4 pyppeteer==1.0.2 ; python_version >= '3.7' and python_version < '4.0' pyquery==2.0.0 pyrsistent==0.19.3 ; python_version >= '3.7' -pysam==0.20.0 -pytest==7.2.1 -pytest-asyncio==0.20.3 +pysam==0.21.0 ; python_version >= '3.6' +pytest==7.3.1 +pytest-asyncio==0.21.0 pytest-cov==4.0.0 -python-dateutil==2.8.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' -python-dotenv==0.21.1 -python-json-logger==2.0.6 ; python_version >= '3.6' +python-dateutil==2.8.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2' +python-dotenv==1.0.0 +python-json-logger==2.0.7 ; python_version >= '3.6' python-jsonschema-objects==0.4.1 -pytz==2022.7.1 +pytz==2023.3 pyyaml==6.0 ; python_version >= '3.6' -pyzmq==25.0.0 ; python_version >= '3.6' -qtconsole==5.4.0 ; python_version >= '3.7' -qtpy==2.3.0 ; python_version >= '3.7' -requests==2.28.2 ; python_version >= '3.7' and python_version < '4' +pyzmq==25.0.2 ; python_version >= '3.6' +qtconsole==5.4.2 ; python_version >= '3.7' +qtpy==2.3.1 ; python_version >= '3.7' +requests==2.28.2 requests-html==0.10.0 ; python_full_version >= '3.6.0' rfc3339-validator==0.1.4 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' rfc3986-validator==0.1.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' s3transfer==0.6.0 ; python_version >= '3.7' send2trash==1.8.0 -setuptools==67.3.2 ; python_version >= '3.7' -simplejson==3.18.3 ; python_version >= '2.5' and python_version not in '3.0, 3.1, 3.2, 3.3' -six==1.16.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' +setuptools==67.6.1 ; python_version >= '3.7' +six==1.16.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2' sniffio==1.3.0 ; python_version >= '3.7' snowballstemmer==2.2.0 -soupsieve==2.4 ; python_version >= '3.7' -sqlparse==0.4.3 ; python_version >= '3.5' +soupsieve==2.4.1 ; python_version >= '3.7' +sqlparse==0.4.4 ; python_version >= '3.5' stack-data==0.6.2 -starlette==0.25.0 ; python_version >= '3.7' +starlette==0.26.1 ; python_version >= '3.7' tabulate==0.9.0 ; python_version >= '3.7' terminado==0.17.1 ; python_version >= '3.7' tinycss2==1.2.1 ; python_version >= '3.7' -tomli==2.0.1 ; python_version < '3.11' -tornado==6.2 ; python_version >= '3.7' -tqdm==4.64.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' +tornado==6.3 ; python_version >= '3.8' +tqdm==4.65.0 ; python_version >= '3.7' traitlets==5.9.0 ; python_version >= '3.7' typing-extensions==4.5.0 ; python_version >= '3.7' -urllib3==1.26.14 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4, 3.5' -uvicorn==0.20.0 +tzdata==2023.3 ; python_version >= '2' +urllib3==1.26.15 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4, 3.5' +uvicorn==0.21.1 -e . vcfpy==0.13.6 -virtualenv==20.19.0 ; python_version >= '3.7' +virtualenv==20.22.0 ; python_version >= '3.7' w3lib==2.1.1 ; python_version >= '3.7' wcwidth==0.2.6 webencodings==0.5.1 websocket-client==1.5.1 ; python_version >= '3.7' websockets==10.4 ; python_version >= '3.7' -widgetsnbextension==4.0.5 ; python_version >= '3.7' +widgetsnbextension==4.0.7 ; python_version >= '3.7' yoyo-migrations==8.2.0 -zipp==3.13.0 ; python_version >= '3.7' +zipp==3.15.0 ; python_version >= '3.7' diff --git a/requirements.txt b/requirements.txt index 5200213f..84e5e636 100644 --- a/requirements.txt +++ b/requirements.txt @@ -5,26 +5,27 @@ appdirs==1.4.4 appnope==0.1.3 ; sys_platform == 'darwin' asttokens==2.2.1 asyncpg==0.27.0 ; python_full_version >= '3.7.0' -attrs==22.2.0 ; python_version >= '3.6' +attrs==23.1.0 ; python_version >= '3.7' backcall==0.2.0 -beautifulsoup4==4.11.2 ; python_full_version >= '3.6.0' +beautifulsoup4==4.12.2 ; python_full_version >= '3.6.0' biocommons.seqrepo==0.6.5 bioutils==0.5.7 ; python_version >= '3.6' -boto3==1.26.72 -botocore==1.29.72 ; python_version >= '3.7' +boto3==1.26.116 +botocore==1.29.116 ; python_version >= '3.7' bs4==0.0.1 -canonicaljson==1.6.5 ; python_version >= '3.7' +canonicaljson==2.0.0 ; python_version >= '3.7' certifi==2022.12.7 ; python_version >= '3.6' -charset-normalizer==3.0.1 +charset-normalizer==3.1.0 ; python_full_version >= '3.7.0' click==8.1.3 ; python_version >= '3.7' coloredlogs==15.0.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' configparser==5.3.0 ; python_version >= '3.7' cool-seq-tool==0.1.6 cssselect==1.2.0 ; python_version >= '3.7' +cython==0.29.34 ; python_version >= '2.6' and python_version not in '3.0, 3.1, 3.2' decorator==5.1.1 ; python_version >= '3.5' executing==1.2.0 -fake-useragent==1.1.1 -fastapi==0.92.0 +fake-useragent==1.1.3 +fastapi==0.95.1 ga4gh.vrs[extras]==0.8.1.dev0 ga4gh.vrsatile.pydantic==0.0.11 gene-normalizer==0.1.32 @@ -32,58 +33,58 @@ h11==0.14.0 ; python_version >= '3.7' hgvs==1.5.4 ; python_version >= '3.6' humanfriendly==10.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' idna==3.4 ; python_version >= '3.5' -importlib-metadata==6.0.0 ; python_version >= '3.7' +importlib-metadata==6.5.0 ; python_version >= '3.7' inflection==0.5.1 ; python_version >= '3.5' -ipython==8.10.0 ; python_version >= '3.8' +ipython==8.12.0 ; python_version >= '3.8' jedi==0.18.2 ; python_version >= '3.6' jmespath==1.0.1 ; python_version >= '3.7' jsonschema==3.2.0 lxml==4.9.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4' -markdown==3.4.1 ; python_version >= '3.7' +markdown==3.4.3 ; python_version >= '3.7' matplotlib-inline==0.1.6 ; python_version >= '3.5' numpy==1.24.2 ; python_version >= '3.8' -pandas==1.5.3 ; python_version >= '3.8' +pandas==2.0.0 ; python_version >= '3.8' parse==1.19.0 parsley==1.3 parso==0.8.3 ; python_version >= '3.6' pexpect==4.8.0 ; sys_platform != 'win32' pickleshare==0.7.5 -prompt-toolkit==3.0.36 ; python_full_version >= '3.6.2' -psycopg2==2.9.5 ; python_version >= '3.6' -psycopg2-binary==2.9.5 +prompt-toolkit==3.0.38 ; python_full_version >= '3.7.0' +psycopg2==2.9.6 ; python_version >= '3.6' +psycopg2-binary==2.9.6 ptyprocess==0.7.0 pure-eval==0.2.2 -pydantic==1.10.5 +pydantic==1.10.7 pyee==8.2.2 -pygments==2.14.0 ; python_version >= '3.6' +pygments==2.15.1 ; python_version >= '3.7' pyliftover==0.4 pyppeteer==1.0.2 ; python_version >= '3.7' and python_version < '4.0' pyquery==2.0.0 pyrsistent==0.19.3 ; python_version >= '3.7' -pysam==0.20.0 -python-dateutil==2.8.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' +pysam==0.21.0 ; python_version >= '3.6' +python-dateutil==2.8.2 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2' python-jsonschema-objects==0.4.1 -pytz==2022.7.1 +pytz==2023.3 pyyaml==6.0 ; python_version >= '3.6' -requests==2.28.2 ; python_version >= '3.7' and python_version < '4' +requests==2.28.2 requests-html==0.10.0 ; python_full_version >= '3.6.0' s3transfer==0.6.0 ; python_version >= '3.7' -setuptools==67.3.2 ; python_version >= '3.7' -simplejson==3.18.3 ; python_version >= '2.5' and python_version not in '3.0, 3.1, 3.2, 3.3' -six==1.16.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' +setuptools==67.6.1 ; python_version >= '3.7' +six==1.16.0 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2' sniffio==1.3.0 ; python_version >= '3.7' -soupsieve==2.4 ; python_version >= '3.7' -sqlparse==0.4.3 ; python_version >= '3.5' +soupsieve==2.4.1 ; python_version >= '3.7' +sqlparse==0.4.4 ; python_version >= '3.5' stack-data==0.6.2 -starlette==0.25.0 ; python_version >= '3.7' +starlette==0.26.1 ; python_version >= '3.7' tabulate==0.9.0 ; python_version >= '3.7' -tqdm==4.64.1 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3' +tqdm==4.65.0 ; python_version >= '3.7' traitlets==5.9.0 ; python_version >= '3.7' typing-extensions==4.5.0 ; python_version >= '3.7' -urllib3==1.26.14 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4, 3.5' -uvicorn==0.20.0 +tzdata==2023.3 ; python_version >= '2' +urllib3==1.26.15 ; python_version >= '2.7' and python_version not in '3.0, 3.1, 3.2, 3.3, 3.4, 3.5' +uvicorn==0.21.1 w3lib==2.1.1 ; python_version >= '3.7' wcwidth==0.2.6 websockets==10.4 ; python_version >= '3.7' yoyo-migrations==8.2.0 -zipp==3.13.0 ; python_version >= '3.7' +zipp==3.15.0 ; python_version >= '3.7' diff --git a/setup.cfg b/setup.cfg index c9226621..186fb1c3 100644 --- a/setup.cfg +++ b/setup.cfg @@ -29,12 +29,12 @@ install_requires = fastapi uvicorn pydantic - ga4gh.vrs[extras] ~= 0.8.1.dev0 - gene-normalizer ~= 0.1.31 + ga4gh.vrs[extras] == 0.8.1.dev0 + gene-normalizer == 0.1.32 pyliftover boto3 - ga4gh.vrsatile.pydantic ~= 0.0.11 - cool-seq-tool >= 0.1.6 + ga4gh.vrsatile.pydantic == 0.0.11 + cool-seq-tool == 0.1.6 tests_require = pytest From 40e82521fcdaecea23ba90d4c5950db69a55e005 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Thu, 20 Apr 2023 11:54:18 -0400 Subject: [PATCH 18/29] wip: update civic analysis - add csv for files we are able to normalize --- Pipfile | 2 +- .../civic/able_to_normalize_queries.csv | 1859 +++++++++++++++++ .../civic/all_genomic_variant_queries.csv | 3 +- .../civic/all_protein_variant_queries.csv | 52 +- notebooks/analysis/civic/civic_analysis.ipynb | 261 ++- .../analysis/civic/not_supported_variants.csv | 64 +- .../civic/unable_to_normalize_queries.csv | 14 +- setup.cfg | 2 +- variation/tokenizers/gnomad_vcf.py | 2 +- 9 files changed, 2077 insertions(+), 182 deletions(-) create mode 100644 notebooks/analysis/civic/able_to_normalize_queries.csv diff --git a/Pipfile b/Pipfile index f65daa0f..7ef63fe1 100644 --- a/Pipfile +++ b/Pipfile @@ -30,4 +30,4 @@ gene-normalizer = "==0.1.32" pyliftover = "*" boto3 = "*" "ga4gh.vrsatile.pydantic" = "==0.0.11" -cool-seq-tool = "==0.1.6" +cool-seq-tool = "==0.1.11" diff --git a/notebooks/analysis/civic/able_to_normalize_queries.csv b/notebooks/analysis/civic/able_to_normalize_queries.csv new file mode 100644 index 00000000..f9e48c99 --- /dev/null +++ b/notebooks/analysis/civic/able_to_normalize_queries.csv @@ -0,0 +1,1859 @@ +variant_id query query_type variant_accepted +2489 NC_000003.11:g.10191648_10191649insC genomic True +1988 NC_000003.11:g.10191649A>T genomic True +2488 3-10191647-T-G genomic True +1986 NC_000003.11:g.10191648G>T genomic True +1987 NC_000003.11:g.10191649A>G genomic True +2152 NC_000003.11:g.10191719C>A genomic True +2024 3-10191656-C-G genomic True +467 KDR A1065T protein True +807 RUNX1 A107P protein True +3683 JAK1 A1086S protein False +3030 BCL2 A113G protein False +3342 KRAS A11_G12insGA protein True +3544 PTEN A121E protein False +2028 NC_000003.11:g.10188221_10188222delinsAT genomic True +3194 3-10188222-C-T genomic False +3528 PTEN A126D protein False +3565 PTEN A126S protein False +4131 TP53 A138K protein False +3416 TP53 A138V protein False +905 KRAS A146P protein True +906 KRAS A146T protein True +322 KRAS A146V protein True +820 NC_000003.11:g.10188302G>T genomic True +1744 NC_000003.11:g.10188302G>A genomic True +2042 NC_000003.11:g.10188302delG genomic True +4134 TP53 A161D protein False +4116 TP53 A161G protein False +1114 TP53 A161T protein True +4136 TP53 A161V protein False +3976 BRCA1 A1708E protein False +3994 BRCA1 A1789T protein False +2929 PRPS1 A190T protein True +2928 PRPS1 A190V protein False +610 MTOR A2034V protein True +3147 NTRK2 A203T protein False +1169 ATM A2062V protein True +1522 CDKN2A A20P protein False +258 MTHFR A222V protein True +1171 ATM A2274T protein False +1217 ERBB3 A232V protein False +3708 AR A234T protein False +1050 TP53 A276V protein True +996 EGFR A289V protein True +4402 CDH1 A298T protein False +4126 TP53 A347G protein False +4023 FGFR3 A391E protein True +752 MLH1 A424T protein True +1588 SMO A459V protein False +4248 PTPN11 A461T protein False +1558 KIT A502_Y503insAY protein True +3173 NC_000003.11:g.10183681C>G genomic False +771 NC_000003.11:g.10183695_10183696insG genomic True +793 NC_000003.11:g.10183695_10183696insA genomic True +1785 NC_000003.11:g.10183697_10183698insA genomic True +2826 BRAF A598V protein True +1646 POLE4 A59E protein False +760 MLH1 A681V protein True +4415 EZH2 A682G protein True +4414 EZH2 A692V protein True +2255 EGFR A702S protein False +1198 BRAF A728V protein True +2332 EGFR A750T protein False +1515 EGFR A763_Y764insFQEA protein True +2658 ERBB2 A775_G776insYVMA protein False +3591 RIT1 A77P protein False +3592 RIT1 A77S protein False +990 KIT A829P protein True +4127 TP53 A83E protein False +1474 EGFR A859T protein False +1187 EGFR A864T protein True +3751 ARHGAP35 A865_L870delinsV protein False +4129 TP53 A86E protein False +4128 TP53 A86T protein False +2939 PRPS1 A87T protein True +153 FOXP1 AMPLIFICATION protein True +154 REL AMPLIFICATION protein True +204 NCOA3 AMPLIFICATION protein True +224 TTF1 AMPLIFICATION protein True +2655 MYB AMPLIFICATION protein True +18 CCND1 Amplification protein True +180 AURKA Amplification protein True +187 CCNE1 Amplification protein True +190 EGFR Amplification protein True +212 PIK3CA Amplification protein True +219 TERT Amplification protein True +251 BIRC7 Amplification protein True +267 FGFR1 Amplification protein True +270 MET Amplification protein True +298 MYCN Amplification protein True +306 ERBB2 Amplification protein True +321 MAPK1 Amplification protein True +330 NOTCH1 Amplification protein True +358 RSF1 Amplification protein True +371 TOP1 Amplification protein True +379 TYMS Amplification protein True +407 ABCC3 Amplification protein True +409 ASNS Amplification protein True +553 CDK4 Amplification protein True +573 RICTOR Amplification protein True +586 KIT Amplification protein True +591 RAF1 Amplification protein True +592 KRAS Amplification protein True +629 FGFR2 Amplification protein True +630 FGF3 Amplification protein True +635 AKT2 Amplification protein True +716 PDGFRA Amplification protein True +1261 MDM2 Amplification protein False +1268 MDM4 Amplification protein False +1269 BRAF Amplification protein True +1276 SMO Amplification protein False +1280 NTRK1 Amplification protein True +1281 NTRK3 Amplification protein True +1684 PSMD4 Amplification protein False +1685 CDK6 Amplification protein False +2205 FLT4 Amplification protein False +2240 TLK2 Amplification protein True +2397 CRKL Amplification protein False +2550 NRAS Amplification protein False +2564 MYC Amplification protein False +2598 IRS2 Amplification protein False +2619 FLT3 Amplification protein False +2637 KDR Amplification protein False +2746 CCND2 Amplification protein False +2747 CCND3 Amplification protein False +2844 MITF Amplification protein False +2906 FGFR3 Amplification protein False +2907 FGFR4 Amplification protein False +3687 KMT2A Amplification protein False +4301 ALK Amplification protein True +4423 TBXT Amplification protein False +4331 ALK C1156Y protein True +627 MAP2K1 C121S protein True +4113 TP53 C124R protein True +3547 PTEN C124S protein False +2840 MAP2K2 C125S protein False +198 FOXL2 C134W protein True +2719 TP53 C135F protein False +924 TP53 C135W protein True +1111 TP53 C135Y protein False +3382 PTEN C136R protein True +1094 TP53 C141W protein False +2713 MTOR C1483F protein False +3413 MTOR C1483R protein False +543 MTOR C1483Y protein True +2528 NC_000003.11:g.10191493C>A genomic False +1773 NC_000003.11:g.10191492G>T genomic True +1772 NC_000003.11:g.10191491T>C genomic True +1774 NC_000003.11:g.10191493C>G genomic True +1824 NC_000003.11:g.10191492G>A genomic True +2035 NC_000003.11:g.10191490del genomic True +3389 TP53 C176F protein False +4118 TP53 C176S protein False +1116 TP53 C176Y protein False +3393 TP53 C238F protein False +2648 TP53 C238Y protein True +1062 TP53 C242F protein False +1063 TP53 C242S protein False +1064 TP53 C242Y protein True +1172 ATM C2488Y protein True +4124 TP53 C275F protein False +917 TP53 C275Y protein False +4145 TP53 C277Y protein False +1647 POLD1 C284Y protein True +3357 FGFR2 C342R protein False +3358 FGFR2 C342Y protein False +931 PIK3CA C420R protein True +1586 SMO C469Y protein False +1639 ABL1 C475V protein True +4017 BTK C481R protein False +168 BTK C481S protein True +4016 BTK C481Y protein False +3605 EZH2 C576W protein False +3337 PIK3CA C604R protein False +1260 RET C609Y protein True +1700 RET C634R protein False +112 RET C634W protein True +2936 PRPS1 C77S protein True +3096 NC_000003.12:g.10142077_10142078insTCT genomic True +2123 NC_000003.11:g.10183760_10183762del genomic False +3003 EGFR C797G protein False +415 EGFR C797S protein True +1574 EGFR C797Y protein True +1264 KIT C809G protein True +3756 BAP1 C91S protein False +2789 PIK3CA C971R protein False +1660 MET D1010H protein False +1651 MET D1010N protein False +1649 MET D1010Y protein False +3062 BCL2 D103E protein False +3061 BCL2 D103V protein False +3058 BCL2 D103Y protein False +3380 CDKN2A D108H protein False +3288 CDKN2A D108N protein False +2791 CDKN2A D108Y protein False +4015 PLCG2 D1140E protein False +1813 NC_000003.11:g.10188219A>G genomic True +2154 NC_000003.11:g.10188218G>C genomic False +2446 NC_000003.11:g.10188218delG genomic False +3133 3-10188218-G-A genomic False +649 MET D1228N protein True +798 MET D1228V protein True +2554 NC_000003.11:g.10188234A>G genomic False +2533 NC_000003.11:g.10188233G>A genomic False +2053 NC_000003.11:g.10188233G>T genomic False +2935 PRPS1 D139G protein True +3349 SPOP D140G protein False +3040 3-10188286-C-T genomic False +3553 PTEN D162G protein False +135 NOTCH1 D1642H protein True +1168 ATM D1682H protein True +2196 DICER1 D1709E protein True +2195 DICER1 D1709G protein True +2051 DICER1 D1709N protein True +3802 TSC2 D1734E protein False +3980 BRCA1 D1739G protein False +3981 BRCA1 D1739V protein False +3123 NC_000003.11:g.10191542G>A genomic False +2197 DICER1 D1810H protein False +2199 DICER1 D1810N protein False +2198 DICER1 D1810Y protein False +2920 PRPS1 D183E protein True +2933 PRPS1 D183H protein False +2579 NC_000007.13:g.50450370del genomic False +1160 ATM D1930V protein True +634 STK11 D194E protein True +2141 NC_000003.11:g.10191596del genomic True +2105 NC_000003.11:g.10191596G>A genomic False +806 RUNX1 D198Y protein True +2126 NC_000003.11:g.10191599_10191600del genomic False +1641 ROS1 D2033N protein False +3401 TP53 D259V protein True +3610 BRCA2 D2611G protein False +3625 BRCA2 D2723A protein False +3631 BRCA2 D2723G protein False +3639 BRCA2 D2723H protein False +1044 TP53 D281E protein True +1045 TP53 D281G protein False +3792 TP53 D281N protein True +4146 TP53 D281Y protein False +3495 ERBB3 D297Y protein False +650 CASP8 D302H protein True +3611 BRCA2 D3073G protein False +661 BRCA2 D3095E protein True +4222 AKT1 D323G protein False +3256 CTNNB1 D32Y protein False +1653 PIK3CA D350G protein True +3338 PIK3CA D350N protein False +2852 SMAD4 D351H protein False +2995 TP53BP1 D353E protein False +1606 ABL1 D363Y protein False +240 NT5C2 D407A protein True +855 KIT D419del protein False +2468 PRKCB D427N protein True +1560 SMO D473G protein False +299 SMO D473H protein True +1561 SMO D473Y protein False +3959 SMAD4 D493H protein False +2858 SMAD4 D537Y protein False +47 ESR1 D538G protein True +1399 PIK3CA D549N protein False +1547 KIT D579_H580insIDPTQLPYD protein False +977 KIT D579del protein True +4341 FLT3 D593del protein False +579 BRAF D594A protein True +2799 BRAF D594E protein False +611 BRAF D594G protein True +2832 BRAF D594H protein False +2398 BRAF D594K protein True +1107 BRAF D594N protein False +580 BRAF D594V protein True +3698 FGFR3 D617G protein False +2573 PTPN11 D61Y protein False +468 KDR D717V protein True +1013 EGFR D761N protein False +712 EGFR D761Y protein True +35 ERBB2 D769H protein True +36 ERBB2 D769Y protein True +1512 EGFR D770_N771insG protein True +1514 EGFR D770_N771insGL protein True +1566 EGFR D770_N771insGT protein True +1569 EGFR D770_N771insNPG protein True +1445 EGFR D770_N771insSVD protein True +2214 EGFR D770delinsGY protein True +1559 KIT D816E protein True +4419 KIT D816F protein False +1402 KIT D816G protein False +983 KIT D816H protein True +65 KIT D816V protein True +984 KIT D816Y protein False +1265 KIT D820A protein True +2736 KIT D820E protein False +1266 KIT D820G protein True +986 KIT D820Y protein True +1397 FLT3 D835E protein False +4340 FLT3 D835G protein False +612 FLT3 D835H protein True +3075 FLT3 D835I protein True +4339 FLT3 D835N protein False +1302 FLT3 D835V protein True +3011 FLT3 D835Y protein True +3167 FLT3 D839A protein False +3160 FLT3 D839G protein False +3169 FLT3 D839H protein False +3168 FLT3 D839N protein False +98 PDGFRA D842I protein True +99 PDGFRA D842V protein True +100 PDGFRA D842Y protein True +102 PDGFRA D842_I843delinsVM protein True +1518 PDGFRA D842_M844del protein False +3374 CDKN2A D84G protein False +3334 CDKN2A D84H protein False +3285 CDKN2A D84N protein False +3375 CDKN2A D84V protein False +3333 CDKN2A D84Y protein False +2574 SETBP1 D868N protein False +3538 PTEN D92A protein False +3539 PTEN D92E protein False +3540 PTEN D92G protein False +2449 NC_000003.11:g.10183806A>G genomic True +3541 PTEN D92H protein False +3542 PTEN D92V protein False +3293 PIK3CA D939G protein False +2414 MAP2K1 E102_I103delEI protein False +3290 PIK3CB E1051K protein False +3464 EGFR E114K protein False +566 MAP2K7 E116K protein True +4329 ALK E1210K protein False +1694 NC_000003.11:g.10183567G>C genomic False +1884 NC_000003.11:g.10188257G>T genomic False +2524 NC_000003.12:g.10146575_10146601del genomic False +2245 NC_000003.11:g.10191485G>T genomic False +1919 NC_000003.11:g.10191486_10191487delAG genomic True +2502 NC_000003.11:g.10191486A>T genomic False +2098 NC_000003.12:g.10149800del genomic True +2527 NC_000003.11:g.10191487delG genomic False +2050 DICER1 E1705K protein True +1976 NC_000003.11:g.10191524G>T genomic False +544 MTOR E1799K protein True +4 AKT1 E17K protein True +1227 AKT3 E17K protein True +3585 TP53 E180K protein False +2200 DICER1 E1813G protein False +2201 DICER1 E1813K protein False +2052 DICER1 E1813Q protein True +1777 NC_000003.11:g.10191563G>T genomic True +1778 NC_000003.11:g.10191563G>A genomic True +1829 NC_000003.11:g.10191565_10191567del genomic False +1869 NC_000003.11:g.10191572del genomic True +572 MTOR E2014K protein True +1626 MAP2K1 E203K protein False +1162 ATM E2187* protein True +3780 TP53 E224K protein True +4427 MTOR E2419K protein True +1601 ABL1 E258D protein False +3772 TP53 E258K protein True +1552 MAPK1 E278E protein False +1603 ABL1 E281K protein False +1043 TP53 E285K protein False +3462 TP53 E285V protein False +915 TP53 E286K protein True +3621 BRCA2 E3002K protein False +3496 ERBB4 E317K protein False +320 MAPK1 E322K protein True +2853 SMAD4 E330A protein False +3521 SMAD4 E330K protein False +1648 POLD1 E374K protein True +1674 ESR1 E380Q protein False +691 ERRFI1 E384* protein True +3336 PIK3CA E39K protein False +4306 KLF5 E419K protein True +4307 KLF5 E419Q protein True +1619 ABL1 E450A protein False +1496 ABL1 E450G protein False +1617 ABL1 E450K protein False +1620 ABL1 E453V protein False +1621 ABL1 E459G protein False +1733 NC_000003.11:g.10183667G>T genomic True +3692 FGFR3 E466K protein False +3343 SPOP E47K protein False +3682 JAK1 E483D protein False +773 MSH2 E483G protein True +3345 SPOP E50K protein False +2282 DROSHA E518K protein False +2466 NC_000003.11:g.10183685G>T genomic False +1734 NC_000003.11:g.10183685G>A genomic True +103 PIK3CA E542K protein True +933 PIK3CA E542Q protein False +882 PIK3CA E545A protein False +934 PIK3CA E545D protein False +883 PIK3CA E545G protein True +104 PIK3CA E545K protein True +881 PIK3CA E545Q protein True +884 PIK3CA E545V protein False +2709 PIK3CA E545X protein False +1736 NC_000003.11:g.10183694G>T genomic True +955 KIT E554D protein False +794 NC_000003.11:g.10183696G>A genomic True +764 NC_000003.11:g.10183694_10183695del genomic True +766 NC_000003.11:g.10183694del genomic True +3449 BRAF E585K protein False +1631 FLT3 E588_Y589INSKYFYVDFRE protein False +4106 TP53 E68G protein True +1834 NC_000003.11:g.10183739G>T genomic True +1412 EGFR E709K protein False +1413 EGFR E709Q protein False +1956 NC_000003.11:g.10183739G>A genomic True +1572 EGFR E734Q protein True +724 EGFR E746G protein True +1431 EGFR E746K protein False +1005 EGFR E746V protein False +1002 EGFR E746_A750del protein True +1009 EGFR E746_S752delinsD protein False +4280 EGFR E746_S752insV protein False +1004 EGFR E746_T751delinsA protein False +1214 EGFR E746_T751delinsVA protein False +3754 BACH2 E788K protein False +3504 ERCC2 E79D protein False +4320 NFE2L2 E79K protein False +3960 NFE2L2 E79Q protein False +1500 PIK3CA E81K protein True +3430 NFE2L2 E82D protein False +4107 SOS1 E846K protein False +1482 EGFR E868G protein True +3505 ERCC2 E86Q protein False +1390 EGFR E884K protein False +3332 CDKN2A E88K protein False +3537 PTEN E91A protein False +1794 NC_000003.11:g.10183811G>T genomic True +2127 NC_000003.11:g.10183810del genomic True +2173 NC_000003.11:g.10183811G>A genomic False +1158 ATM F1025L protein True +3082 BCL2 F104I protein True +3028 BCL2 F104L protein False +3027 BCL2 F104S protein False +1492 ALK F1174C protein False +8 ALK F1174L protein True +1505 ALK F1174V protein False +2475 NC_000003.11:g.10188212T>C genomic False +1743 NC_000003.11:g.10188214C>G genomic True +2119 NC_000003.11:g.10188213T>C genomic False +1945 NC_000003.11:g.10188211_10188212del genomic False +549 ALK F1245C protein True +1295 ALK F1245V protein True +1814 NC_000003.11:g.10188264T>G genomic True +1801 NC_000003.11:g.10188264T>C genomic True +1174 NOTCH1 F1592C protein False +1127 NOTCH1 F1592S protein False +2714 MTOR F1888L protein False +470 MTOR F2108L protein True +2285 CRLF2 F232C protein False +2802 BRAF F247L protein False +1053 TP53 F270S protein True +1164 ATM F2732V protein True +1507 ABL1 F311I protein True +1028 ABL1 F317L protein True +1525 ABL1 F317V protein True +2063 STK11 F354L protein False +3516 FGFR3 F384L protein False +2616 EGFR F404I protein False +2617 EGFR F404V protein False +1538 ABL1 F486Y protein False +3240 KIT F504A protein False +1270 MAP2K1 F53L protein False +2839 MAP2K1 F53Y protein False +4223 AKT1 F55Y protein False +1398 MAP2K2 F57C protein False +1121 BRAF F595L protein False +3468 NTRK3 F617L protein True +3071 FLT3 F691L protein True +2587 JAK2 F694L protein True +1749 NC_000003.11:g.10183757T>A genomic False +2107 NC_000003.11:g.10183759C>G genomic False +1835 NC_000003.11:g.10183758T>C genomic True +2088 NC_000003.11:g.10183758_10183760del genomic True +1926 NC_000003.11:g.10183758_10183760delTCT genomic False +3593 RIT1 F82L protein False +1881 ATM F858L protein False +175 AR F877L protein True +3536 PTEN F90L protein False +2294 NC_000003.11:g.10183804C>G genomic True +3667 PIK3CA F930S protein True +3437 PIK3CA G1007R protein False +3026 BCL2 G101A protein False +2960 BCL2 G101V protein True +1501 PIK3CA G1049A protein False +940 PIK3CA G1049R protein True +939 PIK3CA G1049S protein False +2293 NC_000003.11:g.10183843C>G genomic True +2043 NC_000003.11:g.10183842G>C genomic True +2428 NC_000003.11:g.10183842G>T genomic True +3341 KRAS G10_A11insG protein True +1673 ERBB4 G1109C protein False +2798 ALK G1128A protein False +1797 NC_000003.11:g.10183871G>T genomic True +1857 NC_000003.11:g.10183871G>C genomic True +2026 NC_000003.11:g.10183871G>A genomic True +2491 NC_000003.11:g.10188198G>T genomic False +171 ALK G1202R protein True +2813 ALK G1202del protein False +308 ALK G1269A protein True +4334 ALK G1269S protein False +3549 PTEN G127E protein False +2555 NC_000003.11:g.10188238delG genomic False +2835 MAP2K1 G128V protein False +3563 PTEN G129E protein False +3562 PTEN G129R protein False +3561 PTEN G129V protein False +148 KRAS G12A protein True +78 KRAS G12C protein True +897 NRAS G12C protein True +79 KRAS G12D protein True +878 NRAS G12D protein True +1387 HRAS G12D protein False +530 KRAS G12R protein True +898 NRAS G12S protein False +913 KRAS G12S protein True +425 KRAS G12V protein True +1175 NRAS G12V protein False +1394 HRAS G12V protein False +2873 MAP2K2 G132D protein False +2874 MAP2K2 G132S protein False +895 NRAS G13C protein False +911 KRAS G13C protein False +81 KRAS G13D protein True +93 NRAS G13D protein True +274 HRAS G13D protein True +896 NRAS G13R protein True +1393 HRAS G13R protein False +1395 KRAS G13R protein False +1396 KRAS G13S protein False +1317 NRAS G13V protein False +1489 HRAS G13V protein False +1517 KRAS G13V protein True +1850 NC_000003.11:g.10188287G>T genomic True +2290 3-10188288-G-A genomic True +2059 NC_000003.11:g.10188287G>A genomic False +3197 3-10188287-G-C genomic False +3247 NC_000003.12:g.10146602_10146612del genomic True +2560 NC_000003.11:g.10188288delG genomic False +2676 EP300 G1506V protein False +3419 TP53 G154S protein False +3559 PTEN G165E protein False +3560 PTEN G165V protein False +3973 BRCA1 G1706A protein False +3972 BRCA1 G1706E protein False +2922 PRPS1 G174E protein False +3993 BRCA1 G1770V protein False +1271 ROS1 G2032R protein True +1060 TP53 G244S protein True +3397 TP53 G244V protein False +1036 TP53 G245D protein True +879 TP53 G245S protein True +3331 LZTR1 G248R protein False +2279 CRLF2 G24R protein False +1599 ABL1 G250V protein False +3523 SMAD4 G252* protein False +141 DDR2 G253C protein True +3615 BRCA2 G2585R protein False +3628 BRCA2 G2609D protein False +4144 TP53 G262C protein False +3773 TP53 G262D protein True +3774 TP53 G266E protein True +1055 TP53 G266R protein True +4122 TP53 G266V protein True +2838 MAP2K1 G276W protein False +3613 BRCA2 G2793E protein False +3616 BRCA2 G2793R protein False +3791 TP53 G279E protein True +703 ERBB3 G284R protein True +3623 BRCA2 G3076E protein False +3620 BRCA2 G3076V protein False +38 ERBB2 G309A protein True +3457 NFE2L2 G31A protein True +2283 ACVR1 G328E protein True +1686 ACVR1 G328V protein True +2280 ACVR1 G328W protein True +1657 ABL1 G340L protein True +3492 CTNNB1 G34E protein False +3253 CTNNB1 G34R protein False +3379 H3-3A G34R protein True +2576 CTNNB1 G34V protein False +3378 H3-3A G34V protein False +2421 H3-3A G34W protein True +3662 ACVR1 G356D protein True +2788 PIK3CA G363A protein False +3286 PTEN G36R protein False +2406 FGFR3 G370C protein True +3381 PIK3R2 G373R protein True +2405 FGFR3 G380R protein True +3522 SMAD4 G386D protein False +1737 NC_000003.11:g.10183645del genomic False +3520 SMAD4 G419V protein False +3432 BRAF G463E protein True +3442 BRAF G463V protein False +1106 BRAF G464V protein True +2603 EGFR G465E protein False +443 EGFR G465R protein True +2604 EGFR G465V protein False +1196 BRAF G466A protein False +2792 BRAF G466E protein False +2222 BRAF G466V protein True +992 BRAF G469A protein True +993 BRAF G469E protein True +840 BRAF G469R protein False +3425 BRAF G469S protein False +841 BRAF G469V protein False +2221 BRAF G496A protein True +1584 SMO G497W protein False +142 DDR2 G505S protein True +1624 ABL1 G514S protein False +4007 DDX41 G530D protein False +1678 FBXW7 G579W protein False +2823 BRAF G593D protein False +2690 NTRK1 G595R protein False +694 BRAF G596C protein True +1627 BRAF G596R protein True +1650 BRAF G596V protein False +997 EGFR G598V protein True +2223 BRAF G606E protein True +2855 NTRK3 G623E protein False +2691 NTRK3 G623R protein False +3215 FGFR4 G636C protein False +3699 FGFR3 G637W protein False +3488 EGFR G63R protein False +759 MLH1 G65D protein True +757 MLH1 G67R protein True +1692 FGFR3 G691R protein False +4030 FGFR3 G697C protein False +2817 FLT3 G697R protein False +3212 FLT3 G697S protein False +999 EGFR G719A protein True +1420 EGFR G719D protein True +134 EGFR G719S protein True +317 EGFR G724S protein True +3346 SPOP G75R protein False +144 DDR2 G774V protein True +816 ERBB2 G776L protein True +3649 KDR G800D protein False +3650 KDR G800R protein False +3226 RET G810C protein False +1016 EGFR G810S protein False +3227 RET G810S protein False +3651 KDR G843D protein False +772 HOXB13 G84E protein True +865 PDGFRA G853D protein True +351 SETBP1 G870S protein True +2008 NC_000003.11:g.10183808G>T genomic True +1858 NC_000003.11:g.10183809G>A genomic False +1920 NC_000003.11:g.10183808G>C genomic True +1859 NC_000003.11:g.10183808G>A genomic True +2009 NC_000003.11:g.10183809G>T genomic True +1151 PIK3CA H1047L protein True +107 PIK3CA H1047R protein True +2710 PIK3CA H1047X protein True +938 PIK3CA H1047Y protein False +2957 MET H1094L protein False +2463 NC_000003.11:g.10183860A>C genomic False +2516 NC_000003.11:g.10183860del genomic False +2520 NC_000003.11:g.10188200delC genomic False +1885 NC_000003.11:g.10188201A>C genomic True +1742 NC_000003.11:g.10188202C>A genomic True +1957 NC_000003.11:g.10188202C>G genomic True +2000 NC_000003.11:g.10188201A>G genomic True +4112 TP53 H115Y protein True +1921 NC_000003.11:g.10188200C>T genomic True +2057 NC_000003.11:g.10188201del genomic True +3546 PTEN H123D protein False +2872 MAP2K2 H123Q protein False +2060 NC_000003.11:g.10188231A>C genomic False +3122 NC_000003.11:g.10188230C>T genomic False +3803 SMAD4 H132Y protein False +456 FCGR2A H167R protein True +3963 BRCA1 H1686Q protein False +3962 BRCA1 H1686R protein False +4138 TP53 H168Q protein False +4137 TP53 H168R protein False +3783 TP53 H168Y protein True +4103 TP53 H178P protein True +1082 TP53 H179R protein True +1083 TP53 H179Y protein True +3996 BRCA1 H1862L protein False +2425 NC_000003.11:g.10191578C>G genomic False +1958 NC_000003.11:g.10191578del genomic True +4119 TP53 H193L protein False +283 MTOR H1968Y protein True +1595 ABL1 H201L protein False +4335 TP53 H214R protein False +1446 EGFR H773_V774insH protein True +1513 EGFR H773_V774insNPH protein True +864 PDGFRA H845Y protein True +874 ERBB2 H878Y protein True +3529 PTEN H93D protein False +3530 PTEN H93Q protein False +3340 PTEN H93R protein False +3531 PTEN H93Y protein False +4323 CBL H94Y protein False +259 GSTP1 I105V protein True +1922 NC_000003.11:g.10183857del genomic False +263 ABCB1 I1145I protein True +588 ALK I1171N protein True +589 ALK I1171S protein True +3371 ALK I1171T protein True +3545 PTEN I122S protein False +2291 NC_000003.11:g.10188297T>C genomic False +2038 NC_000003.11:g.10188296A>G genomic False +2150 NC_000003.11:g.10188308A>T genomic True +2030 NC_000003.11:g.10188310C>G genomic True +2476 3-10188309-T-A genomic False +2250 NC_000003.11:g.10188309T>G genomic False +1871 NC_000003.11:g.10188309T>C genomic True +787 CHEK2 I157T protein True +3768 TP53 I162F protein True +3555 PTEN I168F protein False +2246 NC_000003.11:g.10191546T>A genomic False +3012 NC_000003.11:g.10191546T>C genomic False +1807 NC_000003.11:g.10191545A>G genomic True +2329 NC_000003.12:g.10149938delinsAA genomic False +458 FCGR2B I232T protein True +1598 ABL1 I242T protein False +3758 U2AF1 I24T protein False +3630 BRCA2 I2627F protein False +3255 CTNNB1 I35K protein False +1235 PIK3CA I391M protein True +1585 SMO I408V protein False +1615 ABL1 I418S protein False +1614 ABL1 I418V protein False +2599 EGFR I462K protein False +2600 EGFR I462R protein False +2608 EGFR I491K protein False +2609 EGFR I491R protein False +4022 FGFR3 I538F protein False +143 DDR2 I638F protein True +2677 ERBB2 I654V protein False +758 MLH1 I68S protein True +2937 PRPS1 I72V protein True +2259 EGFR I744_K745insKIPVAI protein False +3146 3-10183755-T-G genomic False +3664 ERBB2 I767M protein False +3572 FLT3 I836S protein False +3573 FLT3 I836T protein False +101 PDGFRA I843DEL protein True +755 MSH6 I972F protein False +1234 PIK3CA K111N protein True +1120 KRAS K117N protein False +3584 TP53 K120E protein False +3596 TP53 K120R protein False +3548 PTEN K125E protein False +3564 PTEN K128N protein False +3764 TP53 K139E protein True +1862 NC_000003.11:g.10191482A>G genomic False +770 MSH2 K172* protein True +2921 PRPS1 K176N protein True +1913 NC_000003.11:g.10191593A>T genomic True +2147 NC_000003.11:g.10191593A>G genomic False +2416 H3-3A K28M protein True +1155 ATM K293* protein True +3402 TP53 K305M protein False +4147 TP53 K305N protein False +2871 BRCA2 K3326* protein True +239 NT5C2 K359Q protein True +3745 CTCF K365T protein True +3440 KLF4 K409Q protein False +2775 BRAF K439Q protein False +2776 BRAF K439T protein False +2605 EGFR K467N protein False +455 EGFR K467T protein True +581 BRAF K483M protein True +2622 KIT K484_G487DEL protein True +2607 EGFR K489E protein False +2606 EGFR K489Q protein False +949 KIT K550_K558del protein True +948 KIT K550_W557del protein True +963 KIT K558Q protein False +965 KIT K558R protein False +964 KIT K558_V559del protein True +1549 KIT K558delinsNP protein True +1272 MAP2K1 K57N protein True +824 MAP2K1 K57T protein False +584 BRAF K601E protein True +733 MLH1 K618DEL protein True +978 KIT K642E protein True +2592 KIT K642R protein False +4024 FGFR3 K650D protein True +1400 FGFR3 K650E protein True +4025 FGFR3 K650L protein True +4013 FGFR3 K650M protein True +3695 FGFR3 K650N protein True +4019 FGFR3 K650Q protein True +4021 FGFR3 K650T protein False +2947 FGFR2 K660E protein False +3166 FLT3 K663Q protein False +114 SF3B1 K666N protein True +565 SF3B1 K700E protein True +3490 EGFR K708R protein False +1638 EGFR K745_E749delKELRE protein False +264 ERCC2 K751Q protein True +1312 ERBB2 K753E protein False +4409 EGFR K754E protein True +4319 SMARCA2 K755R protein True +1314 ERBB2 K755S protein False +723 EGFR K757R protein True +1895 EGFR K806E protein True +802 RUNX1 K83E protein True +3666 PIK3CA K944N protein True +3669 PIK3CA K966E protein True +1838 NC_000003.11:g.10183832_10183833delinsGG genomic True +1860 NC_000003.11:g.10183833T>G genomic False +4111 TP53 L111R protein True +1554 ALK L1152P protein False +307 ALK L1152R protein True +4332 ALK L1152V protein False +1820 NC_000003.11:g.10188203C>G genomic True +1798 NC_000003.11:g.10188210T>C genomic True +1822 NC_000003.11:g.10188210T>G genomic False +1841 NC_000003.11:g.10188209_10188210insA genomic True +4324 ALK L1196M protein True +1553 ALK L1196Q protein False +1275 ALK L1198F protein True +1556 ALK L1198P protein False +3031 BCL2 L119V protein False +3032 MYOD1 L122R protein True +2168 RAD50 L1237F protein True +1851 NC_000003.11:g.10188238_10188239delinsTT genomic False +3066 3-10188239-C-T genomic True +2157 NC_000003.11:g.10188240T>C genomic False +1886 NC_000003.11:g.10188240T>G genomic True +3068 NC_000003.11:g.10188238del genomic False +2508 NC_000003.11:g.10188243T>C genomic True +3660 CYSLTR2 L129Q protein False +1099 TP53 L130V protein False +3078 VHL L135* protein False +1769 NC_000003.11:g.10188261T>A genomic True +1906 NC_000003.11:g.10188261del genomic True +4273 BRCA1 L1407P protein False +2559 NC_000003.11:g.10188276delT genomic False +1923 NC_000003.11:g.10188315T>C genomic True +1032 NOTCH1 L1574P protein False +1145 NOTCH1 L1574Q protein False +1142 NOTCH1 L1585R protein False +1738 NC_000003.11:g.10191480T>C genomic True +2467 NC_000003.11:g.10191480T>A genomic False +1803 NC_000003.11:g.10191479C>G genomic True +1031 NOTCH1 L1600P protein False +1140 NOTCH1 L1600Q protein False +2505 NC_000003.11:g.10191494C>T genomic False +2033 NC_000003.11:g.10191495T>A genomic True +3198 NC_000003.11:g.10191494C>A genomic False +2478 NC_000003.11:g.10191495T>C genomic False +2563 NC_000003.11:g.10191495delT genomic False +1034 NOTCH1 L1678P protein False +3097 NC_000003.11:g.10191512C>T genomic False +1887 NC_000003.11:g.10191513T>C genomic True +2326 NC_000003.12:g.10149828_10149833del genomic False +3335 CDKN2A L16P protein False +2675 MSH2 L173P protein False +3982 BRCA1 L1764P protein False +1748 NC_000003.11:g.10191540T>C genomic True +1997 NC_000003.11:g.10191540T>A genomic True +1888 NC_000003.11:g.10191540T>G genomic True +2070 NC_000003.11:g.10191558T>A genomic False +1776 NC_000003.11:g.10191558T>C genomic True +1808 NC_000003.11:g.10191558T>G genomic True +1852 NC_000003.11:g.10191570T>C genomic True +1861 NC_000003.11:g.10191570T>A genomic True +1924 NC_000003.11:g.10191570T>G genomic True +1836 NC_000003.11:g.10191569C>G genomic True +2139 NC_000003.11:g.10191569del genomic True +1828 NC_000003.11:g.10191570del genomic False +2919 PRPS1 L191F protein True +1078 TP53 L194P protein False +3392 TP53 L194R protein False +2501 NC_000003.11:g.10191600T>C genomic False +2010 NC_000003.11:g.10191600T>A genomic True +2247 NC_000003.11:g.10191600T>G genomic False +2543 NC_000003.11:g.10191599del genomic False +2716 MTOR L2230V protein False +140 DDR2 L239R protein True +1163 ATM L2427P protein True +3414 MTOR L2427Q protein False +3755 BACH2 L24P protein False +3624 BRCA2 L2510P protein False +3771 TP53 L252F protein True +3801 TP53 L257P protein True +3640 BRCA2 L2647P protein False +3642 BRCA2 L2653P protein False +3612 BRCA2 L2654P protein False +3638 BRCA2 L2688P protein False +1602 ABL1 L273M protein False +3617 BRCA2 L2792P protein False +1506 ABL1 L298V protein True +3643 PIM1 L2V protein True +4125 TP53 L305M protein False +3775 TP53 L308M protein True +4322 NFE2L2 L30F protein False +3776 TP53 L323P protein True +3580 TP53 L330P protein True +3581 TP53 L330R protein True +3583 TP53 L344P protein True +1570 SMO L412F protein True +4313 POLE L424I protein False +4158 POLE L424V protein False +2842 MAP2K2 L46F protein False +2804 BRAF L485F protein False +658 BRAF L505H protein True +2793 BRAF L525R protein False +1191 AKT1 L52R protein False +46 ESR1 L536Q protein True +1675 ESR1 L536R protein False +72 KIT L576P protein True +3705 AR L57Q protein False +3451 BRAF L596V protein False +583 BRAF L597Q protein True +288 BRAF L597R protein True +582 BRAF L597S protein True +585 BRAF L597V protein True +2401 FGFR3 L608V protein False +1944 NC_000003.11:g.10183719T>C genomic False +139 DDR2 L63V protein True +2999 EGFR L718Q protein False +3000 EGFR L718V protein False +1891 EGFR L747P protein True +1006 EGFR L747_A750delinsP protein False +1012 EGFR L747_P753delinsS protein True +890 EGFR L747_S752del protein False +1580 EGFR L747_S752delinsQ protein True +1007 EGFR L747_T751delLREAT protein False +1010 EGFR L747_T751delinsP protein False +1008 EGFR L747_T751delinsQ protein False +1313 ERBB2 L753E protein False +1304 ERBB2 L755P protein False +39 ERBB2 L755S protein True +40 ERBB2 L755W protein True +37 ERBB2 L755_T759del protein True +1308 ERBB2 L768S protein False +3004 EGFR L792H protein False +1457 EGFR L838P protein True +1018 EGFR L838V protein True +3648 KDR L840F protein False +1473 EGFR L858Q protein False +33 EGFR L858R protein True +2020 NC_000003.11:g.10183785T>C genomic True +1020 EGFR L861Q protein True +1477 EGFR L861R protein True +496 ERBB2 L866M protein True +2330 ERBB2 L869R protein False +2308 NC_000003.11:g.10183797T>A genomic False +1793 NC_000003.11:g.10183797T>C genomic True +2549 3-10183797-T-G genomic False +3670 PIK3CA L938* protein True +937 PIK3CA M1043I protein False +2940 PRPS1 M115T protein True +3301 SPOP M117I protein False +3280 SPOP M117V protein False +3372 MET M1250T protein False +3966 BRCA1 M1628T protein False +3965 BRCA1 M1652I protein False +4401 BRCA1 M1775K protein False +4400 BRCA1 M1775R protein False +847 NC_000003.11:g.10183531_10183551del genomic True +848 NC_000003.11:g.10183534G>A genomic True +846 NC_000003.11:g.10183532_10183548del genomic True +1248 BRCA2 M1I protein True +747 MLH1 M1L protein True +2868 NC_000003.11:g.10191638A>C genomic False +609 MTOR M2327I protein True +1066 TP53 M237I protein True +1597 ABL1 M237V protein False +3396 TP53 M243T protein False +3398 TP53 M246A protein False +3789 TP53 M246L protein True +4105 TP53 M246R protein False +3399 TP53 M246T protein False +1610 ABL1 M388L protein False +1622 ABL1 M472I protein False +769 MLH1 M490T protein True +1288 JAK3 M511I protein False +3515 FGFR3 M528I protein False +201 KIT M541L protein True +2177 NC_000003.11:g.10183693G>C genomic False +829 NC_000003.11:g.10183693_10183697del genomic True +951 KIT M552_W557DEL protein False +3165 FLT3 M664I protein False +2745 EGFR M766Q protein False +1664 EGFR M766_A767insAI protein True +2213 EGFR M766_A767insASV protein True +818 ERBB2 M774DELINSWLV protein True +3588 RIT1 M90I protein False +113 RET M918T protein True +3438 PIK3CA N1044K protein False +2924 PRPS1 N114D protein False +2843 MAP2K2 N126D protein False +778 SLCO1B1 N130D protein True +1953 NC_000003.11:g.10188250C>A genomic True +2460 NC_000003.11:g.10188250C>G genomic False +2001 NC_000003.11:g.10188249A>G genomic True +2580 NC_000003.11:g.10188249A>C genomic True +1800 NC_000003.11:g.10188247_10188248del genomic True +1868 NC_000003.11:g.10188250_10188251delinsA genomic False +2317 NC_000003.11:g.10188277delC genomic False +2318 NC_000003.12:g.10146595_10146601del genomic False +1917 NC_000003.11:g.10188279_10188297del genomic False +2923 PRPS1 N144S protein True +2162 NC_000003.11:g.10188306A>G genomic True +2561 NC_000003.12:g.10146620del genomic True +1770 NC_000003.12:g.10146622del genomic True +3281 ERCC2 N238S protein False +3394 TP53 N239D protein False +3787 TP53 N239S protein True +3395 TP53 N239T protein False +244 ATM N2875H protein True +3641 BRCA2 N3124I protein False +930 PIK3CA N345K protein True +3679 ETV6 N385_R418del protein False +3681 JAK1 N451S protein False +2794 BRAF N486_P490del protein True +3237 KIT N505I protein False +3238 KIT N505R protein False +3216 FGFR4 N535K protein False +4028 FGFR3 N540D protein False +3693 FGFR3 N540K protein False +3694 FGFR3 N540S protein False +515 FGFR1 N546K protein True +2780 FGFR2 N549H protein False +545 FGFR2 N550K protein True +751 MLH1 N551T protein True +1652 PIK3R2 N561D protein True +4014 PLCG2 N571S protein False +3444 BRAF N580S protein False +1186 BRAF N581S protein True +3053 FLT3 N676K protein False +3304 EGFR N771_P772insL protein True +1662 EGFR N771delinsVH protein False +2112 NC_000003.11:g.10183763A>G genomic False +1754 NC_000003.11:g.10183763A>C genomic True +2037 NC_000003.11:g.10183764A>T genomic True +1755 NC_000003.11:g.10183764A>G genomic True +1756 NC_000003.11:g.10183764A>C genomic True +2113 NC_000003.11:g.10183763A>T genomic False +849 NC_000003.11:g.10183550A>G genomic True +987 KIT N822H protein True +1263 KIT N822K protein True +1188 EGFR N826S protein True +1896 EGFR N826Y protein True +3201 FLT3 N841I protein False +3213 FLT3 N841K protein False +3308 FLT3 N841T protein False +1899 EGFR N842S protein True +873 ERBB2 N857S protein True +2878 NC_000003.11:g.10183799A>C genomic False +2149 NC_000003.11:g.10183800A>T genomic False +3532 PTEN N94I protein False +2058 NC_000003.11:g.10183836del genomic True +1927 NC_000003.11:g.10183838C>G genomic False +1795 NC_000003.11:g.10183840_10183841del genomic True +2118 NC_000003.11:g.10183839C>T genomic False +2837 MAP2K1 P124L protein False +82 MAP2K1 P124S protein True +2866 3-10188271-A-G genomic False +2120 NC_000003.11:g.10188270C>T genomic False +2440 NC_000003.11:g.10188270C>G genomic True +734 MLH1 P138T protein True +761 MSH6 P138T protein True +1928 NC_000003.11:g.10188269C>A genomic True +1644 PXDNL P1460T protein False +2055 NC_000003.12:g.10146610del genomic True +3418 TP53 P151A protein False +1093 TP53 P151H protein True +3765 TP53 P151S protein True +3767 TP53 P152L protein True +3794 TP53 P152T protein True +1962 NC_000003.11:g.10188319A>C genomic True +1782 NC_000003.11:g.10188318C>T genomic True +2427 NC_000003.11:g.10188317C>T genomic False +1771 NC_000003.11:g.10188319del genomic True +3556 PTEN P169H protein False +2005 NC_000003.11:g.10191523del genomic False +3785 TP53 P177F protein True +3786 TP53 P177H protein True +3784 TP53 P177S protein True +3299 PPP2R1A P179R protein True +3997 BRCA1 P1812R protein False +402 NQO1 P187S protein True +4141 TP53 P190H protein False +1080 TP53 P190L protein False +2064 NC_000003.11:g.10191581C>T genomic False +1864 NC_000003.11:g.10191582del genomic False +813 ETV6 P214L protein False +3778 TP53 P219H protein True +284 MTOR P2213S protein True +3318 TP53 P250L protein True +2905 FGFR2 P253R protein True +850 NC_000003.11:g.10183605C>T genomic True +1218 ERBB3 P262H protein False +3005 TP53 P278A protein False +1049 TP53 P278S protein True +4315 POLE P286H protein False +1830 POLE P286R protein True +3570 CCND1 P287S protein False +3571 CCND1 P287T protein False +367 RAC1 P29S protein True +3266 KRAS P34R protein False +3289 CTCF P378L protein False +3602 ATXN7 P40Q protein False +2430 NC_000003.11:g.10183650C>G genomic False +1291 JAK1 P429S protein False +3603 ATXN7 P42_P43insP protein False +1616 ABL1 P441L protein False +3458 PIK3CA P447_L455del protein False +294 PIK3CA P471L protein True +504 TP53 P47S protein True +1623 ABL1 P480L protein False +3377 CDKN2A P48L protein False +2796 BRAF P490_Q494del protein False +1582 EGFR P546S protein False +950 KIT P551L protein False +1497 KIT P551_E554delPMYE protein True +976 KIT P577L protein False +862 PDGFRA P577S protein True +2738 KIT P577_D579DEL protein False +3489 EGFR P596L protein False +1930 NC_000003.11:g.10183706C>T genomic False +851 NC_000003.11:g.10183704_10183705insC genomic True +1929 NC_000003.11:g.10183707del genomic True +1931 NC_000003.11:g.10183714C>G genomic False +2145 NC_000003.11:g.10183713_10183716del genomic True +2180 TSPYL1 P62S protein False +2990 BRCA2 P655R protein False +531 TP53 P72R protein True +2224 BRAF P731T protein True +460 EGFR P753S protein True +2217 EGFR P772_H773insH protein False +1667 EGFR P772_H773insYNP protein True +1668 EGFR P772_V774insPHV protein True +2697 PAX5 P80R protein False +2084 NC_000003.11:g.10183773C>T genomic False +3644 PIM1 P81S protein True +1837 NC_000003.11:g.10183772C>T genomic True +3384 CDKN2A P81T protein False +1465 EGFR P848L protein False +1759 NC_000003.11:g.10183787C>G genomic True +2307 NC_000003.11:g.10183788C>A genomic False +1760 NC_000003.11:g.10183788C>T genomic True +1849 NC_000003.11:g.10183788C>G genomic True +1902 NC_000003.11:g.10183787C>T genomic True +1758 NC_000003.11:g.10183785_10183786insC genomic True +480 DNMT3A P904L protein False +3348 SPOP P94A protein False +4304 SRSF2 P95H protein True +3533 PTEN P95L protein False +4303 SRSF2 P95L protein True +2117 NC_000003.11:g.10183815C>G genomic False +3534 PTEN P96Q protein False +2128 NC_000003.11:g.10183822C>G genomic False +2069 NC_000003.11:g.10183821C>T genomic False +3761 TP53 P98L protein True +3760 TP53 P98S protein True +3302 TYK2 Pro1104Ala protein False +1159 ATM Q1084* protein False +469 TSC2 Q1178* protein True +1994 NC_000003.11:g.10188251C>T genomic True +1882 3-10188252-A-C genomic False +2125 NC_000003.11:g.10188252A>C genomic True +260 ABCG2 Q141K protein True +3777 TP53 Q144P protein True +4132 TP53 Q144Q protein False +1883 NC_000003.11:g.10188290C>T genomic True +1781 NC_000003.11:g.10188292_10188293delGC genomic False +1246 BRCA1 Q1467* protein True +753 MLH1 Q149* protein True +1845 NC_000003.11:g.10191497C>T genomic True +1943 3-10191499-G-C genomic False +2880 NC_000003.11:g.10191499G>T genomic False +2079 NC_000003.11:g.10191498A>T genomic True +1856 NC_000003.11:g.10191498A>G genomic True +4135 TP53 Q167R protein False +1654 NRAS Q179X protein True +1593 PTCH1 Q17X protein False +1810 NC_000003.11:g.10191590C>T genomic True +4413 GNA11 Q209L protein True +604 GNAQ Q209P protein True +479 KRAS Q22* protein True +1520 MTOR Q2223K protein False +3601 ATXN7 Q30R protein False +261 XRCC1 Q399R protein True +3600 ATXN7 Q39P protein False +3590 RIT1 Q40L protein False +1510 ARID1A Q456* protein True +1564 SMO Q477E protein False +614 JAK1 Q503* protein True +3663 BRAF Q524L protein False +886 PIK3CA Q546E protein False +885 PIK3CA Q546K protein True +887 PIK3CA Q546P protein False +888 PIK3CA Q546R protein False +1541 KIT Q556_I571DEL protein False +83 MAP2K1 Q56P protein True +655 MAP2K1 Q56_V60del protein True +975 KIT Q575L protein False +1104 KRAS Q61E protein False +893 NRAS Q61H protein True +907 KRAS Q61H protein True +427 NRAS Q61K protein True +910 KRAS Q61K protein True +1392 HRAS Q61K protein False +95 NRAS Q61L protein True +854 HRAS Q61L protein False +908 KRAS Q61L protein True +1103 KRAS Q61P protein False +96 NRAS Q61R protein True +909 KRAS Q61R protein True +1391 HRAS Q61R protein False +981 KIT Q694K protein False +3576 ERBB2 Q709L protein False +3433 RRAS2 Q72L protein False +1752 NC_000003.11:g.10183748C>T genomic True +2041 NC_000003.11:g.10183748del genomic True +1592 PTCH1 Q787X protein False +169 AKT1 Q79K protein True +3589 RIT1 Q79L protein False +1848 NC_000003.11:g.10183817C>T genomic True +1818 NC_000003.11:g.10183818A>C genomic False +3246 NC_000003.12:g.10142135_10142137del genomic True +1157 ATM Q984E protein False +741 MLH1 R100* protein True +2774 MET R1004G protein True +3653 KDR R1022Q protein False +1594 PIK3CA R1023Q protein False +3350 KDR R1032Q protein True +702 ERBB3 R103G protein True +714 TSC1 R1062W protein True +2007 NC_000003.11:g.10183850C>G genomic True +2044 NC_000003.11:g.10183851G>A genomic True +1840 NC_000003.11:g.10183851G>C genomic True +994 EGFR R108K protein True +3282 TP53 R110L protein False +1796 NC_000003.11:g.10183868C>T genomic True +2143 NC_000003.11:g.10183868delC genomic True +4318 SMARCA2 R1159Q protein True +1661 ALK R1192P protein False +2877 3-10188215-A-T genomic False +3498 ERBB3 R1202W protein False +1914 NC_000003.11:g.10188215A>G genomic True +2494 3-10188216-G-C genomic False +3244 NC_000003.12:g.10146531_10146532insAC genomic True +2645 KDM6A R1213* protein False +3300 SPOP R121Q protein False +776 MSH6 R1242C protein True +767 MSH6 R1242H protein True +9 ALK R1275Q protein True +3292 NF1 R1276Q protein False +3060 BCL2 R129L protein False +636 PTEN R130* protein True +1037 PTEN R130G protein False +899 PTEN R130Q protein False +59 IDH1 R132C protein True +927 IDH1 R132G protein False +420 IDH1 R132H protein True +880 IDH1 R132L protein False +4433 IDH1 R132Q protein False +928 IDH1 R132S protein False +4102 TP53 R156H protein True +3795 TP53 R156P protein True +1170 ATM R1575H protein False +3967 BRCA1 R1589P protein False +4133 TP53 R158C protein False +4115 TP53 R158G protein True +1695 TP53 R158H protein True +1699 TP53 R158L protein True +3543 PTEN R15K protein False +1804 NC_000003.11:g.10191488C>T genomic True +2148 NC_000003.11:g.10191488C>A genomic True +1915 NC_000003.11:g.10191488C>G genomic True +1855 NC_000003.11:g.10191489G>C genomic True +1746 NC_000003.11:g.10191489G>A genomic True +1628 NF1 R163X protein False +1207 KRAS R164Q protein True +814 DDX41 R164W protein True +3470 EGFR R165Q protein False +1805 NC_000003.11:g.10191506C>G genomic False +1916 NC_000003.11:g.10191507G>T genomic True +2458 NC_000003.11:g.10191507G>C genomic True +1739 NC_000003.11:g.10191507G>A genomic True +1747 NC_000003.11:g.10191506C>T genomic True +4397 BRCA1 R1699Q protein False +3971 BRCA1 R1699W protein False +2364 PREX2 R172I protein True +63 IDH2 R172K protein True +838 PTEN R173C protein True +3420 TP53 R174K protein False +1085 TP53 R174W protein False +116 TP53 R175H protein True +1780 NC_000003.11:g.10191533del genomic True +1827 NC_000003.11:g.10191536A>T genomic True +1907 NC_000003.11:g.10191535del genomic True +3796 TP53 R181C protein True +3797 TP53 R181G protein True +3798 TP53 R181H protein True +4140 TP53 R181L protein False +3390 TP53 R181P protein True +4412 GNA11 R183C protein True +471 RAD51D R186* protein True +249 XRCC1 R194W protein True +4142 TP53 R196Q protein False +631 NC_000003.11:g.10191605C>T genomic True +826 GNAS R201C protein True +1319 GNAS R201H protein True +4305 CIC R201W protein False +2857 ROS1 R2033N protein False +1161 ATM R2034P protein False +3661 ACVR1 R206H protein True +3575 PMS2 R20Q protein False +2711 TP53 R213* protein False +1109 TP53 R213P protein True +4121 TP53 R213Q protein False +1683 ALK R214H protein False +3439 MTOR R2152C protein False +3431 CIC R215W protein False +3344 EGFR R222C protein True +754 MLH1 R226* protein True +136 NOTCH1 R2327W protein True +110 PTEN R233* protein True +1252 BRCA2 R2336P protein True +2896 NT5C2 R238W protein True +1156 ATM R2459C protein False +2403 FGFR3 R248C protein True +920 TP53 R248L protein False +117 TP53 R248Q protein True +118 TP53 R248W protein True +3400 TP53 R249G protein False +1696 TP53 R249S protein True +556 CDK4 R24C protein True +3961 EGFR R252C protein False +2275 ACVR1 R258G protein False +3618 BRCA2 R2659G protein False +749 MLH1 R265G protein True +3421 TP53 R267Q protein False +121 TP53 R273C protein True +122 TP53 R273H protein True +918 TP53 R273L protein True +2753 PRKN R275W protein False +3619 BRCA2 R2784Q protein False +3626 BRCA2 R2784W protein False +1697 TP53 R280K protein True +1698 TP53 R280T protein True +1108 TP53 R282L protein True +916 TP53 R282W protein True +3799 TP53 R283H protein True +3422 TP53 R283P protein False +3608 BRCA2 R2842C protein False +903 ATM R3008C protein True +4148 TP53 R306E protein False +768 PMS2 R315* protein True +3423 TP53 R337C protein False +3424 TP53 R337H protein False +1112 TP53 R337L protein False +3582 TP53 R337P protein True +4149 TP53 R337S protein False +3579 TP53 R342P protein True +1656 ABL1 R351W protein True +2276 AMER1 R358X protein False +2851 SMAD4 R361C protein True +238 NT5C2 R367Q protein True +812 ETV6 R369Q protein False +3757 SMAD3 R373H protein False +3339 CTCF R377H protein False +727 MSH2 R383* protein True +1680 RAF1 R391W protein True +811 ETV6 R399C protein False +3463 PALB2 R414X protein False +3678 ETV6 R418G protein False +454 EGFR R451C protein True +3144 NTRK2 R458G protein False +3671 FBXW7 R465C protein False +2647 FBXW7 R465H protein False +3672 FBXW7 R479Q protein False +3519 SMAD4 R496H protein False +1503 FBXW7 R505C protein False +1504 FBXW7 R505H protein False +3673 FBXW7 R505L protein False +2803 BRAF R558Q protein False +2302 NC_000003.11:g.10183709_10183710del genomic False +1867 NC_000003.11:g.10183722G>C genomic True +1679 FBXW7 R658Q protein False +3696 FGFR3 R669G protein False +3697 FGFR3 R669Q protein False +42 ERBB2 R678Q protein True +2829 JAK2 R683G protein False +3604 EZH2 R690C protein False +2333 EGFR R705K protein True +4404 CDH1 R732Q protein False +3485 DNMT3A R736H protein False +1181 EGFR R776C protein True +2175 NC_000003.11:g.10183766C>T genomic False +1791 NC_000003.11:g.10183767G>C genomic True +2241 NC_000003.11:g.10183775C>T genomic False +2532 NC_000003.11:g.10183775C>G genomic False +2110 NC_000003.11:g.10183776G>T genomic False +1980 NC_000003.11:g.10183776G>C genomic True +2089 NC_000003.11:g.10183774_10183782del genomic True +1017 EGFR R831H protein True +2741 EGFR R832L protein False +863 PDGFRA R841K protein True +2782 TEK R849W protein False +3376 CDKN2A R87P protein False +1125 DNMT3A R882H protein False +1124 DNMT3A R882P protein False +929 PIK3CA R88Q protein True +43 ERBB2 R896C protein True +3434 PIK3CA R93Q protein False +1178 PIK3CA R93W protein True +502 KDR R961W protein True +2790 PIK3CA R975S protein False +3685 PTPRD R995C protein False +3429 ARHGAP35 R997* protein False +2925 PRPS1 S103I protein True +2926 PRPS1 S103N protein True +2927 PRPS1 S103T protein True +3497 ERBB2 S1050L protein False +2165 FANCA S1088F protein False +3647 KDR S1100F protein False +1853 NC_000003.11:g.10183861_10183862delinsTT genomic True +2045 NC_000003.11:g.10183862A>T genomic True +1762 NC_000003.12:g.10142178del genomic True +2243 NC_000003.11:g.10183862A>G genomic False +1763 NC_000003.11:g.10183863G>A genomic True +2156 NC_000003.11:g.10183862A>C genomic False +2003 NC_000003.11:g.10183864C>A genomic False +1764 NC_000003.11:g.10183864C>G genomic True +2517 NC_000003.11:g.10183863del genomic False +4333 ALK S1206R protein False +172 ALK S1206Y protein True +4130 TP53 S127Y protein False +2541 NC_000003.11:g.10188273C>T genomic False +3969 BRCA1 S1486C protein False +1499 PIK3CA S158L protein True +3964 BRCA1 S1655F protein False +2004 NC_000003.11:g.10191510delG genomic False +1941 NC_000003.11:g.10191510G>C genomic False +3557 PTEN S170R protein False +1784 NC_000003.11:g.10191555C>A genomic True +3391 TP53 S183L protein False +2161 NC_000003.11:g.10191555C>T genomic False +2503 NC_000003.11:g.10191555C>G genomic False +2100 NC_000003.11:g.10191555del genomic False +4393 BRCA1 S1841N protein False +4394 BRCA1 S1841R protein False +2347 IL7R S185C protein False +1671 ROS1 S1986F protein False +1670 ROS1 S1986Y protein False +4290 MPL S204P protein False +10 ARAF S214C protein True +4410 ARAF S214F protein True +2715 MTOR S2215F protein False +542 MTOR S2215Y protein True +4143 TP53 S227C protein False +243 ATM S2289* protein True +1065 TP53 S241C protein False +2777 TP53 S241F protein True +3788 TP53 S241T protein True +628 FGFR3 S249C protein True +4312 SMAD2 S276L protein True +1562 SMO S278I protein False +2946 FGFR2 S320C protein False +3710 AR S334P protein False +3254 CTNNB1 S33F protein False +2281 CTNNB1 S37C protein False +3135 3-10183643-T-C genomic False +1495 ABL1 S438C protein False +2615 EGFR S442I protein False +2614 EGFR S442R protein False +2897 NT5C2 S445F protein True +3502 ERCC2 S44L protein False +1832 POLE S459F protein True +1286 CTNNB1 S45F protein True +1287 CTNNB1 S45P protein True +692 ESR1 S463P protein True +2601 EGFR S464L protein False +2602 EGFR S464T protein False +825 ARAF S490T protein True +2610 EGFR S492C protein False +453 EGFR S492R protein True +1206 KIT S501_A502INSAY protein False +1589 SMO S533N protein False +1290 JAK3 S61C protein False +1659 KIT S628N protein True +4408 EGFR S645C protein True +2956 JAK1 S646F protein False +1811 NC_000003.11:g.10183725C>A genomic True +2011 NC_000003.11:g.10183724T>G genomic True +2130 NC_000003.11:g.10183725delC genomic True +1788 NC_000003.11:g.10183725C>T genomic True +1903 NC_000003.11:g.10183724T>C genomic True +3048 NC_000003.11:g.10183724T>A genomic False +1787 NC_000003.11:g.10183725C>G genomic True +2122 NC_000003.11:g.10183734C>A genomic False +1873 NC_000003.11:g.10183733T>C genomic True +2012 NC_000003.11:g.10183734C>G genomic True +980 KIT S692L protein False +822 JAK1 S703I protein True +3680 JAK1 S729C protein False +1904 NC_000003.11:g.10183745T>C genomic True +1816 NC_000003.12:g.10142061del genomic True +891 EGFR S752_I759delSPKANKEI protein False +562 EGFR S768I protein True +1443 EGFR S768N protein False +145 DDR2 S768R protein True +1182 EGFR S784F protein False +2106 NC_000003.11:g.10183769A>G genomic False +1757 NC_000003.11:g.10183770G>T genomic True +2701 CBL S80N protein False +1874 NC_000003.11:g.10183770G>A genomic True +3347 SPOP S80R protein False +1963 NC_000003.11:g.10183769A>C genomic True +1792 3-10183771-T-G genomic True +2512 NC_000003.11:g.10183770_10183776del genomic False +2511 NC_000003.11:g.10183770del genomic True +3750 ARHGAP35 S866F protein False +262 ABCB1 S893T protein True +3652 KDR S925F protein False +3645 PIM1 S97N protein True +2534 NC_000003.11:g.10183874_10183881delinsCG genomic False +2104 NC_000003.11:g.10183876G>C genomic True +2461 NC_000003.11:g.10188323A>C genomic False +2065 NC_000003.12:g.10146639A>G genomic False +2146 NC_000003.11:g.10188323A>T genomic False +2292 NC_000003.11:g.10188328C>T genomic True +1681 NC_000009.11:g.5070054T>G genomic True +4386 NC_000007.14:g.116771989G>A genomic True +2114 NC_000003.11:g.10183872G>A genomic True +2074 NC_000003.11:g.10183872G>T genomic False +2017 NC_000003.12:g.10146513G>A genomic False +2454 NC_000003.12:g.10146513G>T genomic False +2133 NC_000003.11:g.10188196A>C genomic True +2504 NC_000003.11:g.10188196A>G genomic False +1972 NC_000003.11:g.10188321G>A genomic False +1998 NC_000003.11:g.10188321G>C genomic True +2048 NC_000003.11:g.10188321G>T genomic False +2075 NC_000003.11:g.10188322T>C genomic True +1974 NC_000003.11:g.10191470G>A genomic True +2077 NC_000003.11:g.10191470G>C genomic True +1990 NC_000003.11:g.10191470G>T genomic True +2093 NC_000003.11:g.10191469A>C genomic False +2078 NC_000003.11:g.10191469A>G genomic True +1992 NC_000003.11:g.10191469A>T genomic True +2248 NC_000003.11:g.10183829A>G genomic False +1839 NC_000003.11:g.10183844A>C genomic True +4330 ALK T1151K protein False +1493 ALK T1151M protein False +743 MLH1 T117M protein True +2054 NC_000003.11:g.10188228C>T genomic False +1905 NC_000003.11:g.10188226del genomic False +3417 TP53 T125R protein False +3684 TP53 T125T protein True +1843 NC_000003.11:g.10188254del genomic True +2085 NC_000003.11:g.10188312C>T genomic False +3130 NC_000003.11:g.10188311A>C genomic False +1745 NC_000003.11:g.10191477C>T genomic True +2323 NC_000003.11:g.10191476delA genomic False +3558 PTEN T160I protein False +4398 BRCA1 T1700A protein False +3979 BRCA1 T1720A protein False +2712 MTOR T1977K protein False +3412 MTOR T1977R protein False +540 FLT3 T227M protein True +3782 TP53 T230S protein True +1587 SMO T241M protein False +995 EGFR T263P protein True +901 ATM T2666A protein True +3629 BRCA2 T2722R protein False +3407 PTEN T277A protein False +3406 PTEN T277I protein False +3403 PTEN T277R protein False +2918 PRPS1 T303S protein True +2 ABL1 T315I protein True +870 BTK T316A protein True +2618 EGFR T415M protein False +2620 KIT T417_D419delinsY protein True +1285 CTNNB1 T41A protein True +3503 ERCC2 T46S protein False +2795 BRAF T488_P492del protein False +974 KIT T574A protein False +2824 BRAF T599_V600insT protein False +2387 CSF3R T618I protein True +979 KIT T661I protein False +1267 KIT T670I protein True +861 EGFR T725M protein False +3686 PTPRD T781A protein False +1573 EGFR T785A protein True +34 EGFR T790M protein True +2331 ERBB2 T798I protein True +1305 ERBB2 T798M protein False +4321 NFE2L2 T80K protein False +1463 EGFR T847I protein True +1467 EGFR T854A protein False +871 ERBB2 T862A protein True +701 ERBB3 V104M protein True +528 ALK V1180L protein True +1875 NC_000003.11:g.10188245G>T genomic False +2380 NC_000003.11:g.10188245G>A genomic False +1970 NC_000003.11:g.10188245G>C genomic True +1254 TP53 V143A protein False +4411 ARAF V145L protein True +2991 KRAS V14I protein False +3968 BRCA1 V1534M protein False +2836 MAP2K1 V154I protein False +1909 NC_000003.11:g.10191471T>A genomic True +1934 NC_000003.11:g.10191471T>G genomic True +2076 NC_000003.11:g.10188320G>A genomic False +3059 BCL2 V156D protein False +1143 NOTCH1 V1577A protein False +1144 NOTCH1 V1577E protein False +3574 TP53 V157D protein False +1092 TP53 V157F protein True +1249 BRCA2 V159M protein True +2437 NC_000003.11:g.10191504T>C genomic True +1775 NC_000003.11:g.10191504T>A genomic True +1825 NC_000003.11:g.10191503G>T genomic True +3554 PTEN V166I protein False +3970 BRCA1 V1688del protein False +1910 NC_000003.11:g.10191516T>C genomic False +1826 NC_000003.11:g.10191516T>A genomic True +1806 NC_000003.11:g.10191515G>T genomic True +1935 NC_000003.11:g.10191516T>G genomic True +4399 BRCA1 V1713A protein False +4117 TP53 V173G protein False +1086 TP53 V173L protein False +4139 TP53 V173M protein False +3998 BRCA1 V1804D protein False +1847 NC_000003.11:g.10191547_10191550del genomic True +4396 BRCA1 V1838E protein False +2493 NC_000003.11:g.10191588T>G genomic False +3595 TP53 V197E protein False +4120 TP53 V197L protein False +2805 MAP2K1 V211D protein False +1251 BRCA2 V211I protein True +1250 BRCA2 V211L protein True +3507 ERCC2 V242F protein False +2348 IL7R V253G protein False +792 PTPRD V253I protein True +4123 TP53 V272G protein True +1035 TP53 V272L protein False +3790 TP53 V274F protein True +2751 TP53 V274S protein False +1604 ABL1 V289I protein False +2277 CRLF2 V2del protein False +1576 SMO V321M protein False +775 MSH6 V352I protein True +2841 MAP2K2 V35M protein False +2702 CBL V391I protein False +1831 POLE V411L protein True +2612 EGFR V441D protein False +2613 EGFR V441F protein True +2611 EGFR V441G protein False +745 MLH1 V49A protein True +728 MLH1 V534R protein True +2938 PRPS1 V53A protein True +3217 FGFR4 V550E protein False +2399 FGFR3 V555L protein False +2400 FGFR3 V555M protein True +1543 KIT V555_I571DEL protein False +957 KIT V555_P573DEL protein False +956 KIT V555_Q556DEL protein False +2695 KIT V555_V559DEL protein True +969 KIT V559A protein False +968 KIT V559D protein True +966 KIT V559DEL protein False +970 KIT V559G protein False +967 KIT V559_V560DEL protein False +971 KIT V560D protein True +202 KIT V560DEL protein True +972 KIT V560G protein True +1550 KIT V560_L576DEL protein True +247 PDGFRA V561A protein True +941 PDGFRA V561D protein True +2781 FGFR1 V561M protein False +1551 KIT V569_L576DEL protein False +1632 FLT3 V592_D593INSDFREY protein False +11 BRAF V600D protein True +3452 BRAF V600D protein False +12 BRAF V600E protein True +1199 BRAF V600G protein False +563 BRAF V600K protein True +1404 BRAF V600L protein False +1405 BRAF V600M protein True +991 BRAF V600R protein False +1658 BRAF V600_K601DELINSD protein False +3241 BRAF V600_S605delinsDV protein False +2834 MAP2K1 V60E protein False +64 JAK2 V617F protein True +73 KIT V654A protein True +3205 PDGFRA V658A protein False +1789 NC_000003.11:g.10183727delG genomic False +1936 NC_000003.11:g.10183728T>G genomic False +1289 JAK3 V722I protein False +3230 RET V738A protein False +1001 EGFR V742A protein True +1999 NC_000003.11:g.10183752T>G genomic True +2270 NG_008212.3:g.5426_5445del genomic False +1578 EGFR V769A protein False +736 EGFR V769_D770insASV protein True +872 ERBB2 V773A protein True +1311 ERBB2 V773L protein False +1892 EGFR V774A protein True +1894 EGFR V774M protein True +1567 EGFR V774_C775insHV protein False +44 ERBB2 V777L protein True +2568 RET V804M protein False +1897 EGFR V834I protein True +45 ERBB2 V842I protein True +1937 NC_000003.11:g.10183781G>C genomic False +1815 NC_000003.11:g.10183781G>T genomic True +2101 NC_000003.11:g.10183781G>A genomic True +1466 EGFR V851I protein True +781 ERBB3 V855A protein True +2068 NC_000003.11:g.10183791T>C genomic False +2513 NC_000003.11:g.10183791T>A genomic False +2432 NC_000003.11:g.10183790_10183791insA genomic True +3668 PIK3CA V955G protein True +3001 PIK3CA V955I protein True +1521 CDKN2A W110* protein False +2249 NC_000003.11:g.10188207G>A genomic False +1821 NC_000003.11:g.10188208G>A genomic False +1767 NC_000003.11:g.10188208G>T genomic True +2521 NC_000003.11:g.10188206T>G genomic False +2522 NC_000003.11:g.10188206T>A genomic False +2523 NC_000003.11:g.10188207G>C genomic False +3691 PTPRB W130R protein False +1590 PTCH1 W170X protein False +3978 BRCA1 W1718C protein False +1555 BRCA1 W1815X protein True +3995 BRCA1 W1837R protein False +3627 BRCA2 W2626C protein False +1563 SMO W281C protein False +1583 SMO W281L protein False +2945 FGFR2 W290C protein False +4403 CDH1 W409R protein False +3688 ABL2 W469C protein False +2667 MPL W515L protein False +837 SMO W535L protein False +959 KIT W557G protein False +958 KIT W557R protein False +960 KIT W557T protein False +962 KIT W557_E561del protein False +961 KIT W557_K558del protein True +1498 KIT W557_V559insC protein False +1539 PDGFRA W559_R560DELWR protein False +1292 JAK1 W690* protein False +1591 PTCH1 W712X protein False +1571 EGFR W731L protein True +1294 NC_000003.11:g.10183555G>A genomic True +2703 CBL W802* protein False +3250 VHL W88* protein False +2151 NC_000003.11:g.10183794G>A genomic True +1908 NC_000003.11:g.10183795G>A genomic True +2124 NC_000003.11:g.10183795G>C genomic False +2039 NC_000003.11:g.10183794_10183796delinsTT genomic True +2242 NC_000003.11:g.10183794G>T genomic False +1761 NC_000003.11:g.10183793T>A genomic True +2056 NC_000003.11:g.10183793T>C genomic True +1966 NC_000003.11:g.10183794G>C genomic True +2913 MET Y1003H protein False +935 PIK3CA Y1021C protein False +1766 NC_000003.11:g.10183867C>A genomic True +2818 NC_000003.11:g.10183866A>G genomic False +1865 NC_000003.11:g.10183865T>C genomic True +2006 NC_000003.11:g.10183865T>A genomic False +3762 TP53 Y126D protein True +3763 TP53 Y126S protein True +3456 EP300 Y1414C protein False +3500 ERCC2 Y14C protein False +1645 PAPPA2 Y1520X protein False +1968 NC_000003.11:g.10191475T>G genomic True +1946 NC_000003.11:g.10191474A>G genomic True +1967 NC_000003.11:g.10191473T>G genomic True +3182 NC_000003.11:g.10191473T>C genomic False +2013 NC_000003.11:g.10191473T>A genomic True +3193 NC_000003.11:g.10191474A>C genomic False +2453 NC_000003.11:g.10191472_10191477del genomic False +1087 TP53 Y163C protein False +3769 TP53 Y163H protein True +3800 TP53 Y163N protein True +1932 NC_000003.11:g.10191532C>A genomic True +1969 NC_000003.11:g.10191532C>G genomic True +2138 NC_000003.11:g.10191532del genomic True +2067 NC_000003.11:g.10191531A>G genomic True +1846 NC_000003.11:g.10191530T>G genomic True +2066 NC_000003.11:g.10191530T>A genomic True +2115 NC_000003.11:g.10191562C>A genomic False +1809 NC_000003.11:g.10191562C>G genomic True +4395 BRCA1 Y1853C protein False +3506 ERCC2 Y209C protein False +922 TP53 Y220C protein True +3779 TP53 Y220H protein True +1596 ABL1 Y232S protein False +1068 TP53 Y234C protein True +3781 TP53 Y234H protein True +3770 TP53 Y236S protein True +3501 ERCC2 Y24C protein False +803 RUNX1 Y260* protein True +3614 BRCA2 Y2660D protein False +3609 BRCA2 Y2726C protein False +3690 PTPRB Y309C protein False +2934 PRPS1 Y311C protein False +3405 PTEN Y336* protein False +1605 ABL1 Y342H protein False +2377 RHEB Y35N protein False +2638 CBL Y371H protein True +2404 FGFR3 Y373C protein True +3356 FGFR2 Y375C protein False +3065 FGFR2 Y376C protein False +1611 ABL1 Y393C protein False +3689 ABL2 Y399C protein False +3239 KIT Y503A protein False +946 KIT Y503_F504insAY protein True +1669 LYN Y508F protein False +48 ESR1 Y537C protein True +49 ESR1 Y537N protein True +50 ESR1 Y537S protein True +952 KIT Y553D protein False +2737 KIT Y553N protein False +953 KIT Y553_K558DEL protein False +1542 KIT Y553_W557DELYEVQW protein False +1548 KIT Y570_L576DEL protein False +3233 FLT3 Y589D protein False +1630 FLT3 Y591_V592INSVDFREYE protein False +3607 EZH2 Y646C protein True +2989 EZH2 Y646F protein True +3364 EZH2 Y646H protein True +4090 EZH2 Y646N protein True +2666 EZH2 Y646S protein True +3514 FGFR3 Y647C protein False +2986 STAT5B Y665F protein False +3499 ERCC2 Y72C protein False +3606 EZH2 Y731D protein False +1665 EGFR Y764_V765insHH protein True +1575 EGFR Y801H protein True +3228 RET Y806C protein False +3229 RET Y806N protein False +989 KIT Y823D protein True +3665 ERBB2 Y835F protein False +3070 FLT3 Y842C protein True +3234 FLT3 Y842H protein False +3535 PTEN Y88C protein False +1642 POLD1 Y956N protein False +3125 NC_000003.11:g.10183825C>G genomic False +1933 NC_000003.11:g.10183824A>G genomic True +852 NC_000003.11:g.10183822_10183841del genomic True +2160 NC_000003.11:g.10183822delC genomic True +1741 NC_000003.11:g.10183823T>C genomic True +2484 NC_000003.11:g.10183823T>A genomic False +2480 NC_000003.11:g.10183824A>C genomic False +3022 NC_000003.11:g.10191943G>A genomic False +615 NC_000009.11:g.5070053_5070054insG genomic True +3161 3-10183878-G-A genomic False +877 NC_000020.11:g.58903752C>T genomic True +731 NC_000003.11:g.37056036G>A genomic True +3045 VHL p.F76del protein False +3310 HDAC9 p.L33R protein False diff --git a/notebooks/analysis/civic/all_genomic_variant_queries.csv b/notebooks/analysis/civic/all_genomic_variant_queries.csv index 7359f2af..b963cbd5 100644 --- a/notebooks/analysis/civic/all_genomic_variant_queries.csv +++ b/notebooks/analysis/civic/all_genomic_variant_queries.csv @@ -136,7 +136,6 @@ variant_id hgvs_g variant_accepted 2157 NC_000003.11:g.10188240T>C False 1886 NC_000003.11:g.10188240T>G True 3068 NC_000003.11:g.10188238del False -2034 NC_000003.11:g.10188243T>C False 2508 NC_000003.11:g.10188243T>C True 1769 NC_000003.11:g.10188261T>A True 1906 NC_000003.11:g.10188261del True @@ -307,7 +306,6 @@ variant_id hgvs_g variant_accepted 1788 NC_000003.11:g.10183725C>T True 1903 NC_000003.11:g.10183724T>C True 3048 NC_000003.11:g.10183724T>A False -1751 NC_000003.11:g.10183725C>G False 1787 NC_000003.11:g.10183725C>G True 2122 NC_000003.11:g.10183734C>A False 1873 NC_000003.11:g.10183733T>C True @@ -328,6 +326,7 @@ variant_id hgvs_g variant_accepted 2146 NC_000003.11:g.10188323A>T False 2292 NC_000003.11:g.10188328C>T True 1681 NC_000009.11:g.5070054T>G True +4386 NC_000007.14:g.116771989G>A True 2114 NC_000003.11:g.10183872G>A True 2074 NC_000003.11:g.10183872G>T False 2017 NC_000003.12:g.10146513G>A False diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv index 5f299af6..57ab6f31 100644 --- a/notebooks/analysis/civic/all_protein_variant_queries.csv +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -31,6 +31,7 @@ variant_id gene_name variant_name variant_accepted 3708 AR A234T False 1050 TP53 A276V True 996 EGFR A289V True +4402 CDH1 A298T False 4126 TP53 A347G False 4023 FGFR3 A391E True 752 MLH1 A424T True @@ -40,6 +41,8 @@ variant_id gene_name variant_name variant_accepted 2826 BRAF A598V True 1646 POLE4 A59E False 760 MLH1 A681V True +4415 EZH2 A682G True +4414 EZH2 A692V True 2255 EGFR A702S False 1198 BRAF A728V True 3718 AR A748V False @@ -64,7 +67,6 @@ variant_id gene_name variant_name variant_accepted 2655 MYB AMPLIFICATION True 842 BRAF APC False 2758 BRCA1 ATM False -2844 MITF Amplificatioin False 18 CCND1 Amplification True 180 AURKA Amplification True 187 CCNE1 Amplification True @@ -110,10 +112,12 @@ variant_id gene_name variant_name variant_accepted 2637 KDR Amplification False 2746 CCND2 Amplification False 2747 CCND3 Amplification False +2844 MITF Amplification False 2906 FGFR3 Amplification False 2907 FGFR4 Amplification False 3687 KMT2A Amplification False 4301 ALK Amplification True +4423 TBXT Amplification False 4331 ALK C1156Y True 627 MAP2K1 C121S True 4113 TP53 C124R True @@ -166,7 +170,6 @@ variant_id gene_name variant_name variant_accepted 1660 MET D1010H False 1651 MET D1010N False 1649 MET D1010Y False -2260 MET D1028N False 3062 BCL2 D103E False 3061 BCL2 D103V False 3058 BCL2 D103Y False @@ -253,6 +256,7 @@ variant_id gene_name variant_name variant_accepted 1445 EGFR D770_N771insSVD True 2214 EGFR D770delinsGY True 1559 KIT D816E True +4419 KIT D816F False 1402 KIT D816G False 983 KIT D816H True 65 KIT D816V True @@ -303,9 +307,11 @@ variant_id gene_name variant_name variant_accepted 2201 DICER1 E1813K False 2052 DICER1 E1813Q True 3707 AR E198G False +572 MTOR E2014K True 1626 MAP2K1 E203K False 1162 ATM E2187* True 3780 TP53 E224K True +4427 MTOR E2419K True 1601 ABL1 E258D False 3772 TP53 E258K True 1552 MAPK1 E278E False @@ -348,6 +354,7 @@ variant_id gene_name variant_name variant_accepted 3449 BRAF E585K False 1631 FLT3 E588_Y589INSKYFYVDFRE False 4106 TP53 E68G True +4420 HBB E6V False 1412 EGFR E709K False 1413 EGFR E709Q False 1572 EGFR E734Q True @@ -391,6 +398,9 @@ variant_id gene_name variant_name variant_accepted 2802 BRAF F247L False 1053 TP53 F270S True 1164 ATM F2732V True +1507 ABL1 F311I True +1028 ABL1 F317L True +1525 ABL1 F317V True 2063 STK11 F354L False 3516 FGFR3 F384L False 2616 EGFR F404I False @@ -421,6 +431,8 @@ variant_id gene_name variant_name variant_accepted 1673 ERBB4 G1109C False 2798 ALK G1128A False 171 ALK G1202R True +2813 ALK G1202del False +308 ALK G1269A True 4334 ALK G1269S False 3549 PTEN G127E False 2835 MAP2K1 G128V False @@ -569,7 +581,7 @@ variant_id gene_name variant_name variant_accepted 107 PIK3CA H1047R True 2710 PIK3CA H1047X True 938 PIK3CA H1047Y False -2957 MET H1112L False +2957 MET H1094L False 4112 TP53 H115Y True 3546 PTEN H123D False 2872 MAP2K2 H123Q False @@ -599,7 +611,8 @@ variant_id gene_name variant_name variant_accepted 4323 CBL H94Y False 259 GSTP1 I105V True 263 ABCB1 I1145I True -4387 ALK I1171N True +588 ALK I1171N True +589 ALK I1171S True 3371 ALK I1171T True 3545 PTEN I122S False 787 CHEK2 I157T True @@ -639,6 +652,7 @@ variant_id gene_name variant_name variant_accepted 3764 TP53 K139E True 770 MSH2 K172* True 2921 PRPS1 K176N True +3023 PML K227_T233del False 2815 H3C2 K27M True 3939 H3-3A K27M False 3944 H3C14 K27M False @@ -666,6 +680,7 @@ variant_id gene_name variant_name variant_accepted 963 KIT K558Q False 965 KIT K558R False 964 KIT K558_V559del True +1549 KIT K558delinsNP True 1272 MAP2K1 K57N True 824 MAP2K1 K57T False 3455 BRAF K600E False @@ -689,6 +704,7 @@ variant_id gene_name variant_name variant_accepted 1638 EGFR K745_E749delKELRE False 264 ERCC2 K751Q True 1312 ERBB2 K753E False +4409 EGFR K754E True 4319 SMARCA2 K755R True 1314 ERBB2 K755S False 723 EGFR K757R True @@ -773,6 +789,7 @@ variant_id gene_name variant_name variant_accepted 3000 EGFR L718V False 3717 AR L744F False 1891 EGFR L747P True +1006 EGFR L747_A750delinsP False 1012 EGFR L747_P753delinsS True 890 EGFR L747_S752del False 1580 EGFR L747_S752delinsQ True @@ -803,6 +820,8 @@ variant_id gene_name variant_name variant_accepted 3372 MET M1250T False 3966 BRCA1 M1628T False 3965 BRCA1 M1652I False +4401 BRCA1 M1775K False +4400 BRCA1 M1775R False 1248 BRCA2 M1I True 747 MLH1 M1L True 1247 BRCA2 M1R True @@ -956,6 +975,7 @@ variant_id gene_name variant_name variant_accepted 4135 TP53 Q167R False 1654 NRAS Q179X True 1593 PTCH1 Q17X False +4413 GNA11 Q209L True 604 GNAQ Q209P True 479 KRAS Q22* True 1520 MTOR Q2223K False @@ -1025,6 +1045,7 @@ variant_id gene_name variant_name variant_accepted 927 IDH1 R132G False 420 IDH1 R132H True 880 IDH1 R132L False +4433 IDH1 R132Q False 928 IDH1 R132S False 4102 TP53 R156H True 3795 TP53 R156P True @@ -1039,6 +1060,7 @@ variant_id gene_name variant_name variant_accepted 1207 KRAS R164Q True 814 DDX41 R164W True 3470 EGFR R165Q False +4397 BRCA1 R1699Q False 3971 BRCA1 R1699W False 2364 PREX2 R172I True 63 IDH2 R172K True @@ -1051,6 +1073,7 @@ variant_id gene_name variant_name variant_accepted 3798 TP53 R181H True 4140 TP53 R181L False 3390 TP53 R181P True +4412 GNA11 R183C True 471 RAD51D R186* True 249 XRCC1 R194W True 4142 TP53 R196Q False @@ -1140,6 +1163,7 @@ variant_id gene_name variant_name variant_accepted 3604 EZH2 R690C False 2333 EGFR R705K True 3716 AR R726L False +4404 CDH1 R732Q False 3485 DNMT3A R736H False 1181 EGFR R776C True 1017 EGFR R831H True @@ -1164,17 +1188,21 @@ variant_id gene_name variant_name variant_accepted 2165 FANCA S1088F False 3647 KDR S1100F False 4333 ALK S1206R False +172 ALK S1206Y True 4130 TP53 S127Y False 3969 BRCA1 S1486C False 1499 PIK3CA S158L True 3964 BRCA1 S1655F False 3557 PTEN S170R False 3391 TP53 S183L False +4393 BRCA1 S1841N False +4394 BRCA1 S1841R False 2347 IL7R S185C False 1671 ROS1 S1986F False 1670 ROS1 S1986Y False 4290 MPL S204P False 10 ARAF S214C True +4410 ARAF S214F True 2715 MTOR S2215F False 542 MTOR S2215Y True 4143 TP53 S227C False @@ -1211,6 +1239,7 @@ variant_id gene_name variant_name variant_accepted 1589 SMO S533N False 1290 JAK3 S61C False 1659 KIT S628N True +4408 EGFR S645C True 2956 JAK1 S646F False 980 KIT S692L False 822 JAK1 S703I True @@ -1227,12 +1256,14 @@ variant_id gene_name variant_name variant_accepted 262 ABCB1 S893T True 3652 KDR S925F False 3645 PIM1 S97N True +4425 SMARCB1 Single nucleotide variant False 4330 ALK T1151K False 1493 ALK T1151M False 743 MLH1 T117M True 3417 TP53 T125R False 3684 TP53 T125T True 3558 PTEN T160I False +4398 BRCA1 T1700A False 3979 BRCA1 T1720A False 2712 MTOR T1977K False 3412 MTOR T1977R False @@ -1247,6 +1278,7 @@ variant_id gene_name variant_name variant_accepted 3406 PTEN T277I False 3403 PTEN T277R False 2918 PRPS1 T303S True +2 ABL1 T315I True 870 BTK T316A True 2618 EGFR T415M False 1546 KIT T417_D419DELTYDINSI False @@ -1271,8 +1303,10 @@ variant_id gene_name variant_name variant_accepted 1467 EGFR T854A False 871 ERBB2 T862A True 701 ERBB3 V104M True +528 ALK V1180L True 2624 TP53 V135A False 1254 TP53 V143A False +4411 ARAF V145L True 2991 KRAS V14I False 3968 BRCA1 V1534M False 2836 MAP2K1 V154I False @@ -1284,10 +1318,12 @@ variant_id gene_name variant_name variant_accepted 1249 BRCA2 V159M True 3554 PTEN V166I False 3970 BRCA1 V1688del False +4399 BRCA1 V1713A False 4117 TP53 V173G False 1086 TP53 V173L False 4139 TP53 V173M False 3998 BRCA1 V1804D False +4396 BRCA1 V1838E False 3595 TP53 V197E False 4120 TP53 V197L False 2805 MAP2K1 V211D False @@ -1334,11 +1370,11 @@ variant_id gene_name variant_name variant_accepted 2781 FGFR1 V561M False 1551 KIT V569_L576DEL False 1632 FLT3 V592_D593INSDFREY False -3452 BRAF V599D False 3446 BRAF V599E False 3453 BRAF V599K False 3454 BRAF V599R False 11 BRAF V600D True +3452 BRAF V600D False 12 BRAF V600E True 1199 BRAF V600G False 563 BRAF V600K True @@ -1382,6 +1418,7 @@ variant_id gene_name variant_name variant_accepted 1563 SMO W281C False 1583 SMO W281L False 2945 FGFR2 W290C False +4403 CDH1 W409R False 3688 ABL2 W469C False 2667 MPL W515L False 837 SMO W535L False @@ -1397,8 +1434,8 @@ variant_id gene_name variant_name variant_accepted 1571 EGFR W731L True 2703 CBL W802* False 3250 VHL W88* False +2913 MET Y1003H False 935 PIK3CA Y1021C False -2913 MET Y1021H False 3762 TP53 Y126D True 3763 TP53 Y126S True 3456 EP300 Y1414C False @@ -1407,6 +1444,7 @@ variant_id gene_name variant_name variant_accepted 1087 TP53 Y163C False 3769 TP53 Y163H True 3800 TP53 Y163N True +4395 BRCA1 Y1853C False 3506 ERCC2 Y209C False 922 TP53 Y220C True 3779 TP53 Y220H True @@ -1423,7 +1461,7 @@ variant_id gene_name variant_name variant_accepted 3405 PTEN Y336* False 1605 ABL1 Y342H False 2377 RHEB Y35N False -2638 CBL Y371H False +2638 CBL Y371H True 2404 FGFR3 Y373C True 3356 FGFR2 Y375C False 3065 FGFR2 Y376C False diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 20ebd090..55f0c8d6 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -19,7 +19,7 @@ "name": "stderr", "output_type": "stream", "text": [ - "/Users/kxk102/.local/share/virtualenvs/variation-normalization-KPVKcmjd/lib/python3.10/site-packages/python_jsonschema_objects/__init__.py:49: UserWarning: Schema version http://json-schema.org/draft-07/schema not recognized. Some keywords and features may not be supported.\n", + "/Users/kxk102/.local/share/virtualenvs/variation-normalization-KPVKcmjd/lib/python3.11/site-packages/python_jsonschema_objects/__init__.py:49: UserWarning: Schema version http://json-schema.org/draft-07/schema not recognized. Some keywords and features may not be supported.\n", " warnings.warn(\n" ] } @@ -107,7 +107,7 @@ { "data": { "text/plain": [ - "'Total Number of variants in CIViC: 3466'" + "'Total Number of variants in CIViC: 3509'" ] }, "execution_count": 6, @@ -253,30 +253,28 @@ "unable_to_normalize_wr.writerow([\"variant_id\", \"query\", \"query_type\", \"variant_accepted\",\n", " \"exception_raised\", \"message\", \"warnings\"])\n", "\n", + "# This file contains CIViC Variant queries that we were able to normalize.\n", + "able_to_normalize_wf = open(\"able_to_normalize_queries.csv\", \"w\")\n", + "able_to_normalize_wr = csv.writer(able_to_normalize_wf, delimiter=\"\\t\")\n", + "able_to_normalize_wr.writerow([\"variant_id\", \"query\", \"query_type\", \"variant_accepted\"])\n", + "\n", "# Category name for variants we do not support: number of variants we found\n", "variant_category_counts = {c: 0 for c in VariantCategory.__members__}\n", "\n", + "\n", + "def _total_counts():\n", + " \"\"\"Return initial total counts for genomic and protein variants\"\"\"\n", + " return {\n", + " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", + " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", + " }\n", + "\n", "# Keep track of total counts\n", - "transcript_vars_total = {\n", - " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", - " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", - "}\n", - "should_be_able_to_normalize_total = {\n", - " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", - " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", - "}\n", - "can_normalize_total = {\n", - " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", - " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", - "}\n", - "unable_to_normalize_total = {\n", - " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", - " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", - "}\n", - "exception_total = {\n", - " \"protein\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}, \n", - " \"genomic\": {\"accepted\": 0, \"not_accepted\": 0, \"count\": 0}\n", - "}\n", + "transcript_vars_total = _total_counts()\n", + "should_be_able_to_normalize_total = _total_counts()\n", + "can_normalize_total = _total_counts()\n", + "unable_to_normalize_total = _total_counts()\n", + "exception_total = _total_counts()\n", "\n", "queries_found = dict()\n", "\n", @@ -457,6 +455,7 @@ " else:\n", " can_normalize_total[v_q_type][\"count\"] += 1\n", " can_normalize_total[v_q_type][accepted_key] += 1\n", + " able_to_normalize_wr.writerow([variant.id, q, v_q_type, is_accepted])\n", " except Exception as e:\n", " unable_to_normalize_wr.writerow([variant.id, q, v_q_type, is_accepted,\n", " True, str(e), None])\n", @@ -468,7 +467,8 @@ "protein_variants_wf.close()\n", "genomic_variants_wf.close()\n", "not_supported_wf.close()\n", - "unable_to_normalize_wf.close()" + "unable_to_normalize_wf.close()\n", + "able_to_normalize_wf.close()" ] }, { @@ -481,7 +481,7 @@ }, { "cell_type": "code", - "execution_count": 53, + "execution_count": 10, "metadata": {}, "outputs": [], "source": [ @@ -498,27 +498,27 @@ }, { "cell_type": "code", - "execution_count": 54, + "execution_count": 11, "metadata": {}, "outputs": [ { "data": { "text/plain": [ "{'TRANSCRIPT_VAR': 384,\n", - " 'FUSION': 307,\n", - " 'EXPRESSION': 288,\n", - " 'REGION_DEFINED_VAR': 181,\n", - " 'PROTEIN_CONS': 130,\n", - " 'OTHER': 94,\n", - " 'GENE_FUNC': 86,\n", + " 'FUSION': 301,\n", + " 'EXPRESSION': 291,\n", + " 'REGION_DEFINED_VAR': 190,\n", + " 'PROTEIN_CONS': 128,\n", + " 'OTHER': 92,\n", + " 'GENE_FUNC': 87,\n", " 'REARRANGEMENTS': 50,\n", - " 'COPY_NUMBER': 31,\n", + " 'COPY_NUMBER': 34,\n", " 'EPIGENETIC_MODIFICATION': 15,\n", " 'GENOTYPES_EASY': 10,\n", " 'GENOTYPES_COMPOUND': 6}" ] }, - "execution_count": 54, + "execution_count": 11, "metadata": {}, "output_type": "execute_result" } @@ -538,27 +538,27 @@ }, { "cell_type": "code", - "execution_count": 55, + "execution_count": 12, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'TRANSCRIPT_VAR': '11.08%',\n", - " 'FUSION': '8.86%',\n", - " 'EXPRESSION': '8.31%',\n", - " 'REGION_DEFINED_VAR': '5.22%',\n", - " 'PROTEIN_CONS': '3.75%',\n", - " 'OTHER': '2.71%',\n", + "{'TRANSCRIPT_VAR': '10.94%',\n", + " 'FUSION': '8.58%',\n", + " 'EXPRESSION': '8.29%',\n", + " 'REGION_DEFINED_VAR': '5.41%',\n", + " 'PROTEIN_CONS': '3.65%',\n", + " 'OTHER': '2.62%',\n", " 'GENE_FUNC': '2.48%',\n", - " 'REARRANGEMENTS': '1.44%',\n", - " 'COPY_NUMBER': '0.89%',\n", + " 'REARRANGEMENTS': '1.42%',\n", + " 'COPY_NUMBER': '0.97%',\n", " 'EPIGENETIC_MODIFICATION': '0.43%',\n", - " 'GENOTYPES_EASY': '0.29%',\n", + " 'GENOTYPES_EASY': '0.28%',\n", " 'GENOTYPES_COMPOUND': '0.17%'}" ] }, - "execution_count": 55, + "execution_count": 12, "metadata": {}, "output_type": "execute_result" } @@ -569,16 +569,16 @@ }, { "cell_type": "code", - "execution_count": 56, + "execution_count": 13, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 45.64% of the total variants'" + "'The Variation Normalizer does not support 45.26% of the total variants'" ] }, - "execution_count": 56, + "execution_count": 13, "metadata": {}, "output_type": "execute_result" } @@ -589,16 +589,16 @@ }, { "cell_type": "code", - "execution_count": 57, + "execution_count": 14, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 1582'" + "'Total number of variants we do not support in the Variation Normalizer: 1588'" ] }, - "execution_count": 57, + "execution_count": 14, "metadata": {}, "output_type": "execute_result" } @@ -623,7 +623,7 @@ }, { "cell_type": "code", - "execution_count": 58, + "execution_count": 15, "metadata": {}, "outputs": [ { @@ -633,7 +633,7 @@ " 'genomic': {'accepted': 51, 'not_accepted': 333, 'count': 384}}" ] }, - "execution_count": 58, + "execution_count": 15, "metadata": {}, "output_type": "execute_result" } @@ -644,7 +644,7 @@ }, { "cell_type": "code", - "execution_count": 59, + "execution_count": 16, "metadata": {}, "outputs": [ { @@ -653,7 +653,7 @@ "384" ] }, - "execution_count": 59, + "execution_count": 16, "metadata": {}, "output_type": "execute_result" } @@ -665,7 +665,7 @@ }, { "cell_type": "code", - "execution_count": 61, + "execution_count": 17, "metadata": {}, "outputs": [ { @@ -674,7 +674,7 @@ "'13.28% of these are accepted variants'" ] }, - "execution_count": 61, + "execution_count": 17, "metadata": {}, "output_type": "execute_result" } @@ -686,7 +686,7 @@ }, { "cell_type": "code", - "execution_count": 62, + "execution_count": 18, "metadata": {}, "outputs": [ { @@ -695,7 +695,7 @@ "'86.72% of these are NOT accepted variants'" ] }, - "execution_count": 62, + "execution_count": 18, "metadata": {}, "output_type": "execute_result" } @@ -707,16 +707,16 @@ }, { "cell_type": "code", - "execution_count": 60, + "execution_count": 19, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'11.08% of the total variants were not attempted to be normalized due to no input query available'" + "'10.94% of the total variants were not attempted to be normalized due to no input query available'" ] }, - "execution_count": 60, + "execution_count": 19, "metadata": {}, "output_type": "execute_result" } @@ -735,17 +735,17 @@ }, { "cell_type": "code", - "execution_count": 63, + "execution_count": 20, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': {'accepted': 611, 'not_accepted': 854, 'count': 1465},\n", - " 'genomic': {'accepted': 244, 'not_accepted': 181, 'count': 425}}" + "{'protein': {'accepted': 631, 'not_accepted': 872, 'count': 1503},\n", + " 'genomic': {'accepted': 245, 'not_accepted': 179, 'count': 424}}" ] }, - "execution_count": 63, + "execution_count": 20, "metadata": {}, "output_type": "execute_result" } @@ -756,16 +756,16 @@ }, { "cell_type": "code", - "execution_count": 64, + "execution_count": 21, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "1890" + "1927" ] }, - "execution_count": 64, + "execution_count": 21, "metadata": {}, "output_type": "execute_result" } @@ -777,16 +777,16 @@ }, { "cell_type": "code", - "execution_count": 66, + "execution_count": 22, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'45.24% of these are accepted variants'" + "'45.46% of these are accepted variants'" ] }, - "execution_count": 66, + "execution_count": 22, "metadata": {}, "output_type": "execute_result" } @@ -798,16 +798,16 @@ }, { "cell_type": "code", - "execution_count": 67, + "execution_count": 23, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'54.76% of these are NOT accepted variants'" + "'54.54% of these are NOT accepted variants'" ] }, - "execution_count": 67, + "execution_count": 23, "metadata": {}, "output_type": "execute_result" } @@ -819,16 +819,16 @@ }, { "cell_type": "code", - "execution_count": 65, + "execution_count": 24, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer SHOULD be able to normalize 54.53% of the total variants'" + "'The Variation Normalizer SHOULD be able to normalize 54.92% of the total variants'" ] }, - "execution_count": 65, + "execution_count": 24, "metadata": {}, "output_type": "execute_result" } @@ -849,17 +849,17 @@ }, { "cell_type": "code", - "execution_count": 68, + "execution_count": 25, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': {'accepted': 9, 'not_accepted': 57, 'count': 66},\n", + "{'protein': {'accepted': 8, 'not_accepted': 52, 'count': 60},\n", " 'genomic': {'accepted': 1, 'not_accepted': 2, 'count': 3}}" ] }, - "execution_count": 68, + "execution_count": 25, "metadata": {}, "output_type": "execute_result" } @@ -870,16 +870,16 @@ }, { "cell_type": "code", - "execution_count": 69, + "execution_count": 26, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "69" + "63" ] }, - "execution_count": 69, + "execution_count": 26, "metadata": {}, "output_type": "execute_result" } @@ -891,16 +891,16 @@ }, { "cell_type": "code", - "execution_count": 71, + "execution_count": 27, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'14.49% of these are accepted variants'" + "'14.29% of these are accepted variants'" ] }, - "execution_count": 71, + "execution_count": 27, "metadata": {}, "output_type": "execute_result" } @@ -912,16 +912,16 @@ }, { "cell_type": "code", - "execution_count": 72, + "execution_count": 28, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'85.51% of these are NOT accepted variants'" + "'85.71% of these are NOT accepted variants'" ] }, - "execution_count": 72, + "execution_count": 28, "metadata": {}, "output_type": "execute_result" } @@ -933,16 +933,16 @@ }, { "cell_type": "code", - "execution_count": 70, + "execution_count": 29, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to normalize 1.9907674552798615% of the total variants'" + "'The Variation Normalizer was unable to normalize 1.7953833000854944% of the total variants'" ] }, - "execution_count": 70, + "execution_count": 29, "metadata": {}, "output_type": "execute_result" } @@ -963,7 +963,7 @@ }, { "cell_type": "code", - "execution_count": 73, + "execution_count": 30, "metadata": {}, "outputs": [], "source": [ @@ -994,16 +994,16 @@ }, { "cell_type": "code", - "execution_count": 74, + "execution_count": 31, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer found 60 invalid variants (This is 1.73% of the total variants).'" + "'The Variation Normalizer found 62 invalid variants (This is 1.77% of the total variants).'" ] }, - "execution_count": 74, + "execution_count": 31, "metadata": {}, "output_type": "execute_result" } @@ -1024,16 +1024,16 @@ }, { "cell_type": "code", - "execution_count": 75, + "execution_count": 32, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to tokenize 9 variants (0.26% of the total variants).'" + "'The Variation Normalizer was unable to tokenize 1 variants (0.03% of the total variants).'" ] }, - "execution_count": 75, + "execution_count": 32, "metadata": {}, "output_type": "execute_result" } @@ -1044,7 +1044,7 @@ }, { "cell_type": "code", - "execution_count": 76, + "execution_count": 33, "metadata": {}, "outputs": [ { @@ -1053,7 +1053,7 @@ "'The Variation Normalizer was unable to normalize 0 variants due to other issues (This is 0.00% of the total variants).'" ] }, - "execution_count": 76, + "execution_count": 33, "metadata": {}, "output_type": "execute_result" } @@ -1072,7 +1072,7 @@ }, { "cell_type": "code", - "execution_count": 77, + "execution_count": 34, "metadata": {}, "outputs": [ { @@ -1082,7 +1082,7 @@ " 'genomic': {'accepted': 0, 'not_accepted': 0, 'count': 0}}" ] }, - "execution_count": 77, + "execution_count": 34, "metadata": {}, "output_type": "execute_result" } @@ -1093,7 +1093,7 @@ }, { "cell_type": "code", - "execution_count": 78, + "execution_count": 35, "metadata": {}, "outputs": [ { @@ -1102,7 +1102,7 @@ "0" ] }, - "execution_count": 78, + "execution_count": 35, "metadata": {}, "output_type": "execute_result" } @@ -1114,7 +1114,7 @@ }, { "cell_type": "code", - "execution_count": 79, + "execution_count": 36, "metadata": {}, "outputs": [ { @@ -1123,7 +1123,7 @@ "'The Variation Normalizer raised an exception for 0.00% of the total variants'" ] }, - "execution_count": 79, + "execution_count": 36, "metadata": {}, "output_type": "execute_result" } @@ -1142,17 +1142,17 @@ }, { "cell_type": "code", - "execution_count": 80, + "execution_count": 37, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'protein': {'accepted': 600, 'not_accepted': 793, 'count': 1393},\n", - " 'genomic': {'accepted': 243, 'not_accepted': 179, 'count': 422}}" + "{'protein': {'accepted': 621, 'not_accepted': 816, 'count': 1437},\n", + " 'genomic': {'accepted': 244, 'not_accepted': 177, 'count': 421}}" ] }, - "execution_count": 80, + "execution_count": 37, "metadata": {}, "output_type": "execute_result" } @@ -1163,16 +1163,16 @@ }, { "cell_type": "code", - "execution_count": 81, + "execution_count": 38, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "1815" + "1858" ] }, - "execution_count": 81, + "execution_count": 38, "metadata": {}, "output_type": "execute_result" } @@ -1184,16 +1184,16 @@ }, { "cell_type": "code", - "execution_count": 82, + "execution_count": 39, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'46.45% of these are accepted variants'" + "'46.56% of these are accepted variants'" ] }, - "execution_count": 82, + "execution_count": 39, "metadata": {}, "output_type": "execute_result" } @@ -1205,16 +1205,16 @@ }, { "cell_type": "code", - "execution_count": 83, + "execution_count": 40, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'53.55% of these are NOT accepted variants'" + "'53.44% of these are NOT accepted variants'" ] }, - "execution_count": 83, + "execution_count": 40, "metadata": {}, "output_type": "execute_result" } @@ -1226,16 +1226,16 @@ }, { "cell_type": "code", - "execution_count": 84, + "execution_count": 41, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer successfully normalized 96.03% of the variants we SHOULD be able to normalize'" + "'The Variation Normalizer successfully normalized 96.42% of the variants we SHOULD be able to normalize'" ] }, - "execution_count": 84, + "execution_count": 41, "metadata": {}, "output_type": "execute_result" } @@ -1246,16 +1246,16 @@ }, { "cell_type": "code", - "execution_count": 85, + "execution_count": 42, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "'The Variation Normalizer successfully normalized 52.37% of the total variants'" + "'The Variation Normalizer successfully normalized 52.95% of the total variants'" ] }, - "execution_count": 85, + "execution_count": 42, "metadata": {}, "output_type": "execute_result" } @@ -1276,17 +1276,16 @@ }, { "cell_type": "code", - "execution_count": 86, + "execution_count": 43, "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'NC_000003.11:g.10188243T>C': [2034, 2508],\n", - " 'NC_000003.11:g.10183725C>G': [1751, 1787]}" + "{'BRAF V600D': [11, 3452]}" ] }, - "execution_count": 86, + "execution_count": 43, "metadata": {}, "output_type": "execute_result" } @@ -1319,7 +1318,7 @@ "name": "python", "nbconvert_exporter": "python", "pygments_lexer": "ipython3", - "version": "3.10.8" + "version": "3.11.3" }, "orig_nbformat": 4, "vscode": { diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index 915227dd..b68a3fc6 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -1,4 +1,5 @@ variant_id gene_name variant_name category variant_accepted +4417 ALK FBXO11::ALK Fusion False 4188 VHL 10kb Deletion Region Defined Variant False 785 CHEK2 1100DELC Protein Consequence True 2438 VHL 235 (CAG-TAG) Other False @@ -21,7 +22,6 @@ variant_id gene_name variant_name category variant_accepted 2577 PDGFRB AGGF1::PDGFRB C843G Fusion False 285 BRAF AGK::BRAF Fusion True 184 BRAF AKAP9::BRAF Fusion True -552 ALK ALK Fusion G1269A Fusion True 1307 TP53 ALTERATION Region Defined Variant True 2211 BAP1 ALTERNATIVE TRANSCRIPT (ATI) Other True 842 BRAF APC Other False @@ -65,15 +65,13 @@ variant_id gene_name variant_name category variant_accepted 1509 ABL1 BCR::ABL E453Q Fusion True 2370 ABL1 BCR::ABL E459K Fusion True 2901 ABL1 BCR::ABL E98G Fusion True -1507 ABL1 BCR::ABL F311I Fusion True 1528 ABL1 BCR::ABL F311L Fusion True 2358 ABL1 BCR::ABL F311V Fusion False 2359 ABL1 BCR::ABL F317C Fusion True 1625 ABL1 BCR::ABL F317I Fusion True -241 ABL1 BCR::ABL F317L Fusion True +241 ABL1 BCR::ABL F317L Fusion False 2888 ABL1 BCR::ABL F317R Fusion True 2343 ABL1 BCR::ABL F317S Fusion True -1525 ABL1 BCR::ABL F317V Fusion True 1184 ABL1 BCR::ABL F359C Fusion True 1523 ABL1 BCR::ABL F359I Fusion True 892 ABL1 BCR::ABL F359V Fusion True @@ -107,7 +105,6 @@ variant_id gene_name variant_name category variant_accepted 1613 ABL1 BCR::ABL S417Y Fusion True 2953 ABL1 BCR::ABL S438C Fusion True 2335 ABL1 BCR::ABL T315A Fusion True -2 ABL1 BCR::ABL T315I Fusion True 2885 ABL1 BCR::ABL T315V Fusion True 2903 ABL1 BCR::ABL V186A Fusion False 2952 ABL1 BCR::ABL V298I Fusion True @@ -173,7 +170,6 @@ variant_id gene_name variant_name category variant_accepted 522 BRAF DEL 485-490 Region Defined Variant True 954 KIT DEL 554-558 Region Defined Variant False 647 LRP1B DELETION Gene Function True -3023 PML DELETION (p.K227_T233del) Protein Consequence False 1663 BRAF DELNVTAP Other False 2685 DGKH DGKH::ZFAND3 Fusion False 242 TP53 DNA Binding Domain Mutation Region Defined Variant True @@ -203,7 +199,6 @@ variant_id gene_name variant_name category variant_accepted 725 MLH1 E13fs Protein Consequence True 2994 MAEA E151INT Other False 2591 DICER1 E1813 mutations Protein Consequence False -572 MTOR E2014K and E2419K Protein Consequence True 2730 TP53 E204 Protein Consequence False 763 MSH2 E28FS Protein Consequence True 2763 PIK3CA E545 Protein Consequence True @@ -222,25 +217,21 @@ variant_id gene_name variant_name category variant_accepted 4283 EGFR EGFR::PPARGC1A Fusion False 4282 EGFR EGFR::PURB Fusion False 2203 EGFR EGFR::RAD51 Fusion True -4241 EGFR EGFR::SEPT14 Fusion False +4241 EGFR EGFR::SEPT14 Fusion True 4343 EGFR EGFR::VSTM2A Fusion False 4344 EGFR EGFR::WIF1 Fusion False +4418 EGFR EGFR::YAP1 Fusion False +4286 EGFR EGFR::ZNF713 Fusion False +4447 EGFR EGFR::ZNF880 Fusion False +1516 EGFR EGFRVIII Gene Function False 5 ALK EML4::ALK Fusion True -528 ALK EML4::ALK V1180L Fusion True -6 ALK EML4::ALK C1156Y Fusion True -2813 ALK EML4::ALK G1202del Fusion False -308 ALK EML4::ALK G1269A Fusion True -589 ALK EML4::ALK I1171S Fusion True -7 ALK EML4::ALK L1196M Fusion True -172 ALK EML4::ALK S1206Y Fusion True -173 ALK EML4::ALK T1151INST Fusion True 501 ALK EML4::ALK e2-e20 Fusion True 500 ALK EML4::ALK e20-e20 Fusion True -3204 ALK EML4::ALK e6-e19 G1269A and Amplification Fusion False +3204 ALK EML4::ALK e6-e19 Fusion False 503 ALK EML4::ALK e6-e20 Fusion True 4020 EML4 EML4::NTRK3 Fusion False 4299 NTRK3 EML4::NTRK3 Fusion False -2750 ALK EML6::ALK e1-e20 and FBXO11::ALK e1-e20 Fusion False +2750 ALK EML6::ALK Fusion False 4075 EML6 EML6::NTRK3 Fusion False 2670 EPHB2 EPHB2 Protein Consequence False 4308 ALK ERC1::ALK Fusion False @@ -265,7 +256,6 @@ variant_id gene_name variant_name category variant_accepted 86 NPM1 EXON 12 MUTATION Region Defined Variant True 557 ASXL1 EXON 12 MUTATION Region Defined Variant True 266 LRP1B EXON 12-22 DELETION Region Defined Variant True -464 MET EXON 14 MUTATION and AMPLIFICATION Region Defined Variant True 74 KRAS EXON 2 Mutations Region Defined Variant False 1940 VHL EXON 2-3 DELETION Region Defined Variant True 559 CALR EXON 9 FRAMESHIFT Other True @@ -400,6 +390,8 @@ variant_id gene_name variant_name category variant_accepted 3320 BLK Expression Expression False 3992 STAT1 Expression Expression False 4336 FLT3LG Expression Expression False +4421 TBX2 Expression Expression False +4422 TBXT Expression Expression False 2621 KIT F506_F508DUP Copy Number True 2158 VHL F76fs (c.222_225dup) Copy Number False 1912 VHL F76fs (c.223_224insT) Copy Number True @@ -418,6 +410,7 @@ variant_id gene_name variant_name category variant_accepted 667 MEN1 FRAMESHIFT TRUNCATION Protein Consequence True 722 DDIT3 FUS::DDIT3 Fusion True 3149 RELA FUSION Fusion False +575 ROS1 FUSIONS Fusion False 428 MRE11 Frameshift Protein Consequence True 2812 MBD4 Frameshift Protein Consequence False 124 TSC1 Frameshift Truncation Protein Consequence True @@ -466,12 +459,13 @@ variant_id gene_name variant_name category variant_accepted 2770 ROS1 GOPC::ROS1 Fusion True 4240 TYR GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160 Copy Number False 3305 TNFRSF17 Gain Copy Number False +4424 TBXT Gain Copy Number False 2061 ACVR1 Gain-of-Function Other True 2172 MTOR Gain-of-Function Other False 1765 EGFR Gain-of-function Other True 3766 PIK3CA H1047L or H1047R Protein Consequence True 2581 NCOA2 HEY1::NCOA2 Fusion True -588 ALK HIP1::ALK I1171N Fusion True +4405 ALK HIP1::ALK Fusion True 2969 HMGA2 HMGA2::LPP Fusion False 3597 DDR2 High expression Expression False 527 ALK I1171 Protein Consequence True @@ -516,7 +510,6 @@ variant_id gene_name variant_name category variant_accepted 3273 MSH3 K383fs Protein Consequence False 4177 PDGFRA K385 Protein Consequence False 1166 ATM K468FS Protein Consequence True -1549 KIT K558NP Rearrangements True 2765 BRAF K601 Protein Consequence False 508 PMS2 K706FS*19 Protein Consequence True 2964 RUNX1 K90fsX101 Protein Consequence False @@ -545,7 +538,6 @@ variant_id gene_name variant_name category variant_accepted 541 PALB2 L531FS*30 Protein Consequence True 2766 BRAF L597 Protein Consequence False 2997 EGFR L718V and L718Q Protein Consequence False -1006 EGFR L747_A750>P Rearrangements False 1011 EGFR L747_P753>Q Rearrangements False 4221 AKT2 L78_Q79ins Rearrangements False 1866 EGFR L861 Protein Consequence True @@ -644,7 +636,6 @@ variant_id gene_name variant_name category variant_accepted 3138 NPM1 MUTATION Region Defined Variant False 2665 MYB MYB::GATA1 Fusion False 4327 MYB MYB::QKI Fusion False -3586 MYC MYC AND (BCL2 OR BCL6) TRANSLOCATION Rearrangements False 29 CEBPA Mutation Region Defined Variant True 155 RUNX1 Mutation Region Defined Variant True 157 TET2 Mutation Region Defined Variant True @@ -709,9 +700,9 @@ variant_id gene_name variant_name category variant_accepted 2699 CBL Mutation Region Defined Variant False 2704 CDKN2A Mutation Region Defined Variant True 2749 NFE2L2 Mutation Region Defined Variant True -2759 PALB2 Mutation Region Defined Variant False +2759 PALB2 Mutation Region Defined Variant True 2760 MPL Mutation Region Defined Variant False -2764 CDK12 Mutation Region Defined Variant False +2764 CDK12 Mutation Region Defined Variant True 2898 NT5C2 Mutation Region Defined Variant True 2958 SDHB Mutation Region Defined Variant False 2983 ACVR1 Mutation Region Defined Variant True @@ -720,6 +711,15 @@ variant_id gene_name variant_name category variant_accepted 3203 ATRX Mutation Region Defined Variant True 3274 PDGFRA Mutation Region Defined Variant True 4018 MS4A1 Mutation Region Defined Variant True +4437 PPP2R2A Mutation Region Defined Variant False +4438 RAD54L Mutation Region Defined Variant True +4439 BRIP1 Mutation Region Defined Variant True +4440 BARD1 Mutation Region Defined Variant True +4441 CHEK1 Mutation Region Defined Variant True +4442 FANCL Mutation Region Defined Variant False +4443 RAD51B Mutation Region Defined Variant True +4444 RAD51C Mutation Region Defined Variant False +4445 RAD51D Mutation Region Defined Variant True 3127 WT1 Mutations Region Defined Variant False 28 CEBPA N-TERMINAL FRAME SHIFT Protein Consequence True 1581 EGFR N771>GY Rearrangements False @@ -778,7 +778,6 @@ variant_id gene_name variant_name category variant_accepted 2981 WDR12 OVEREXPRESSION Expression False 2982 PLK1 OVEREXPRESSION Expression False 3112 PALB2 Oncogenic Mutations (loss of function alterations) Other False -3113 ATM Oncogenic Mutations (loss of function alterations) Other False 20 CCND1 Overexpression Expression True 24 CCNE1 Overexpression Expression True 152 BCL2 Overexpression Expression True @@ -950,6 +949,7 @@ variant_id gene_name variant_name category variant_accepted 127 U2AF1 Q157P/R Protein Consequence True 507 GNAQ Q209 Protein Consequence True 558 GNA11 Q209 Protein Consequence True +4435 BAP1 Q267fs Protein Consequence False 744 MLH1 Q426FS Protein Consequence True 3326 FLT3 Q575Δ Other False 94 NRAS Q61 Protein Consequence True @@ -1045,6 +1045,7 @@ variant_id gene_name variant_name category variant_accepted 2287 NTRK2 STRN::NTRK2 Fusion True 3108 VHL Single Allele Deletion Genotypes Compound False 3409 TEK T1105N and T1106N Protein Consequence False +4389 ALK T1151dup Copy Number True 810 RUNX1 T148HFSX9 Protein Consequence True 491 HSPH1 T17 DELETION Region Defined Variant True 2733 TP53 T170 Protein Consequence False @@ -1074,8 +1075,12 @@ variant_id gene_name variant_name category variant_accepted 590 BIRC3 TRUNCATING MUTATION Protein Consequence True 708 BRCA2 TRUNCATING MUTATION Protein Consequence True 3110 CREBBP TRUNCATING MUTATIONS AND DELETERIOUS SUBSTITUTIONS Protein Consequence False +4432 SNCAIP Tandem duplication Copy Number False 4026 FGFR2 Translocation Rearrangements False 4027 FGFR3 Translocation Rearrangements False +4428 MYC Translocation Rearrangements False +4429 BCL2 Translocation Rearrangements False +4430 BCL6 Translocation Rearrangements False 223 TP53 Truncating Mutation Protein Consequence True 729 UGT1A1 UGT1A1*28 Genotypes Easy True 732 UGT1A1 UGT1A1*60 Genotypes Easy True @@ -1108,6 +1113,7 @@ variant_id gene_name variant_name category variant_accepted 2392 PTPN6 Underexpression Expression False 2409 ERCC1 Underexpression Expression True 2412 FGFR2 Underexpression Expression False +2718 CCNE1 Underexpression Expression False 3459 AR V1 expression Expression False 1167 ATM V1268FS Protein Consequence False 750 MLH1 V213FS Protein Consequence True @@ -1147,7 +1153,6 @@ variant_id gene_name variant_name category variant_accepted 2720 TP53 Y205 Protein Consequence False 3327 FLT3 Y572Δ Other False 165 EZH2 Y646 Protein Consequence True -3518 EZH2 Y646F, Y646N, Y646S, Y646H, Y646C, A682G, A692V Protein Consequence False 3055 FLT3 Y693 Protein Consequence False 1672 EGFR Y69FS*11 Protein Consequence False 414 ERBB2 Y772_A775DUP Copy Number True @@ -1165,12 +1170,15 @@ variant_id gene_name variant_name category variant_accepted 3482 LGR5 delta5 Other False 2349 IL7R exon 6 mutations Region Defined Variant False 3752 SSTR5 expression Expression True +4416 EZH2 expression Expression True +4406 EGFR fusion Fusion False 2807 BRCA1 gBRCAm Other False 2226 BRAF intron 10 rearrangement Rearrangements True 2225 BRAF intron 9 rearrangement Rearrangements True 2814 DRD5 low expression Expression False 3323 VEGFA low ratio of VEGF165b/VEGFtotal Expression False 2845 HOXD8 mutation Region Defined Variant False +4436 CHEK2 mutation Region Defined Variant True 3322 VEGFA overexpression of VEGF-Axxxa Expression False 2411 SDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC) Copy Number True 3057 GATA1 p.Ser51Alafs*86 Protein Consequence False @@ -1195,5 +1203,3 @@ variant_id gene_name variant_name category variant_accepted 3478 ESR2 underexpression beta-1 Other False 3508 CD274 v242 Protein Consequence False 2422 NTRK3 ~DEPRECATED-ETV6-NTRK3 Other False -2748 ETV6 ~DEPRECATED-ETV6::NTRK3 FUSION Other False -2718 CCNE1 ｍRNA expression low Expression False diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index 722b2d92..5e82287d 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -2,15 +2,14 @@ variant_id query query_type variant_accepted exception_raised message warnings 748 MLH1 *757L protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3718 AR A748V protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3725 AR A765T protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -2844 MITF Amplificatioin protein False False unable to normalize ['Unable to tokenize Amplificatioin'] 248 TERT C228T protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4004 TERT C250T protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3706 AR D221H protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3713 AR D528G protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2833 NECTIN4 D594H protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2514 3-10183806-A-CC genomic False False unable to normalize ['Unable to find valid result for classifications: set()'] -2414 MAP2K1 E102_I103delEI protein False False unable to normalize ['Unable to tokenize E102_I103delEI'] 3707 AR E198G protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4420 HBB E6V protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 457 FCGR3A F212V protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3450 BRAF F594L protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3793 TP53 G177E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -21,6 +20,7 @@ variant_id query query_type variant_accepted exception_raised message warnings 4298 FGFR3 G802_X807del protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" 3448 BRAF I462S protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2137 3-10191481-GAA-C genomic True False unable to normalize ['Unable to find valid result for classifications: set()'] +3023 PML K227_T233del protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" 2815 H3C2 K27M protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3939 H3-3A K27M protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3944 H3C14 K27M protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -29,18 +29,15 @@ variant_id query query_type variant_accepted exception_raised message warnings 2696 KIT K550_K559DEL protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" 3455 BRAF K600E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3714 AR K720E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1638 EGFR K745_E749delKELRE protein False False unable to normalize ['Unable to tokenize K745_E749delKELRE'] 4114 TP53 L139N protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 424 MYD88 L265P protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1540 PDGFRA L579M protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1309 ERBB2 L638S protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3717 AR L744F protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1007 EGFR L747_T751delLREAT protein False False unable to normalize ['Unable to tokenize L747_T751delLREAT'] 3435 MYOD1 MYOD1 L122R protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3719 AR N756D protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3711 AR P340L protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3712 AR P504L protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1497 KIT P551_E554delPMYE protein True False unable to normalize ['Unable to tokenize P551_E554delPMYE'] 1643 SCN8A Q225X protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2700 CBL Q294E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3726 AR Q798E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -52,19 +49,16 @@ variant_id query query_type variant_accepted exception_raised message warnings 3676 NOTCH1 S2514E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3677 NOTCH1 S2514P protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3709 AR S296R protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -891 EGFR S752_I759delSPKANKEI protein False False unable to normalize ['Unable to tokenize S752_I759delSPKANKEI'] 3723 AR S759P protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4425 SMARCB1 Single nucleotide variant protein False False unable to normalize ['Unable to tokenize Single', 'Unable to tokenize nucleotide', 'Unable to tokenize variant'] 3675 NOTCH1 T2512A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1546 KIT T417_D419DELTYDINSI protein False False unable to normalize ['Unable to tokenize T417_D419DELTYDINSI'] +1546 KIT T417_D419DELTYDINSI protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" 3445 BRAF T598I protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2624 TP53 V135A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -3452 BRAF V599D protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3446 BRAF V599E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3453 BRAF V599K protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3454 BRAF V599R protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 2825 BRAF V601E protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3721 AR V757A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3722 AR V757I protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -1539 PDGFRA W559_R560DELWR protein False False unable to normalize ['Unable to tokenize W559_R560DELWR'] -1542 KIT Y553_W557DELYEVQW protein False False unable to normalize ['Unable to tokenize Y553_W557DELYEVQW'] 3724 AR Y763C protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" diff --git a/setup.cfg b/setup.cfg index f4d3943e..26b7a0f5 100644 --- a/setup.cfg +++ b/setup.cfg @@ -34,7 +34,7 @@ install_requires = pyliftover boto3 ga4gh.vrsatile.pydantic == 0.0.11 - cool-seq-tool == 0.1.6 + cool-seq-tool == 0.1.11 tests_require = pytest diff --git a/variation/tokenizers/gnomad_vcf.py b/variation/tokenizers/gnomad_vcf.py index 62be3cc6..e8fe7393 100644 --- a/variation/tokenizers/gnomad_vcf.py +++ b/variation/tokenizers/gnomad_vcf.py @@ -14,7 +14,7 @@ class GnomadVCF(Tokenizer): splitter = re.compile( r"^(?P(chr|chromosome)?([1-9]|[1][0-9]|[2][0-2]|X|Y))-" - r"(?P[1-9]\d*)-(?P(?i)[actg]+)-(?P(?i)[actg]+)$") + r"(?P[1-9]\d*)-(?P[actg]+)-(?P[actg]+)$", re.IGNORECASE) def match(self, input_string: str) -> Optional[List[Token]]: """Return a GnomadVCFToken if a match exists. From 187d25252eda98651acc01b2daae4fd67dc891b6 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Wed, 3 May 2023 18:41:01 -0400 Subject: [PATCH 19/29] re-run civic analysis --- .../civic/able_to_normalize_queries.csv | 2 + .../civic/all_genomic_variant_queries.csv | 1 + .../civic/all_protein_variant_queries.csv | 3 + notebooks/analysis/civic/civic_analysis.ipynb | 56 +++++++++---------- .../analysis/civic/not_supported_variants.csv | 3 +- .../civic/unable_to_normalize_queries.csv | 1 + 6 files changed, 37 insertions(+), 29 deletions(-) diff --git a/notebooks/analysis/civic/able_to_normalize_queries.csv b/notebooks/analysis/civic/able_to_normalize_queries.csv index f9e48c99..d75ca9fe 100644 --- a/notebooks/analysis/civic/able_to_normalize_queries.csv +++ b/notebooks/analysis/civic/able_to_normalize_queries.csv @@ -841,6 +841,7 @@ variant_id query query_type variant_accepted 1738 NC_000003.11:g.10191480T>C genomic True 2467 NC_000003.11:g.10191480T>A genomic False 1803 NC_000003.11:g.10191479C>G genomic True +4449 ERBB2 L15F protein False 1031 NOTCH1 L1600P protein False 1140 NOTCH1 L1600Q protein False 2505 NC_000003.11:g.10191494C>T genomic False @@ -1526,6 +1527,7 @@ variant_id query query_type variant_accepted 2146 NC_000003.11:g.10188323A>T genomic False 2292 NC_000003.11:g.10188328C>T genomic True 1681 NC_000009.11:g.5070054T>G genomic True +4374 NC_000007.14:g.116771990G>T genomic False 4386 NC_000007.14:g.116771989G>A genomic True 2114 NC_000003.11:g.10183872G>A genomic True 2074 NC_000003.11:g.10183872G>T genomic False diff --git a/notebooks/analysis/civic/all_genomic_variant_queries.csv b/notebooks/analysis/civic/all_genomic_variant_queries.csv index b963cbd5..b44d190d 100644 --- a/notebooks/analysis/civic/all_genomic_variant_queries.csv +++ b/notebooks/analysis/civic/all_genomic_variant_queries.csv @@ -326,6 +326,7 @@ variant_id hgvs_g variant_accepted 2146 NC_000003.11:g.10188323A>T False 2292 NC_000003.11:g.10188328C>T True 1681 NC_000009.11:g.5070054T>G True +4374 NC_000007.14:g.116771990G>T False 4386 NC_000007.14:g.116771989G>A True 2114 NC_000003.11:g.10183872G>A True 2074 NC_000003.11:g.10183872G>T False diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv index 57ab6f31..c5e3ad6a 100644 --- a/notebooks/analysis/civic/all_protein_variant_queries.csv +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -118,6 +118,8 @@ variant_id gene_name variant_name variant_accepted 3687 KMT2A Amplification False 4301 ALK Amplification True 4423 TBXT Amplification False +3804 ABL1 BCR-ABL False +4448 ABL1 BCR-ABL T315I False 4331 ALK C1156Y True 627 MAP2K1 C121S True 4113 TP53 C124R True @@ -731,6 +733,7 @@ variant_id gene_name variant_name variant_accepted 1032 NOTCH1 L1574P False 1145 NOTCH1 L1574Q False 1142 NOTCH1 L1585R False +4449 ERBB2 L15F False 1031 NOTCH1 L1600P False 1140 NOTCH1 L1600Q False 1034 NOTCH1 L1678P False diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 55f0c8d6..8cefada6 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -76,7 +76,7 @@ "outputs": [], "source": [ "# Get latest data\n", - "# civicpy.update_cache(from_remote_cache=False)" + "civicpy.update_cache(from_remote_cache=False)" ] }, { @@ -107,7 +107,7 @@ { "data": { "text/plain": [ - "'Total Number of variants in CIViC: 3509'" + "'Total Number of variants in CIViC: 3513'" ] }, "execution_count": 6, @@ -505,7 +505,7 @@ "data": { "text/plain": [ "{'TRANSCRIPT_VAR': 384,\n", - " 'FUSION': 301,\n", + " 'FUSION': 302,\n", " 'EXPRESSION': 291,\n", " 'REGION_DEFINED_VAR': 190,\n", " 'PROTEIN_CONS': 128,\n", @@ -544,11 +544,11 @@ { "data": { "text/plain": [ - "{'TRANSCRIPT_VAR': '10.94%',\n", - " 'FUSION': '8.58%',\n", - " 'EXPRESSION': '8.29%',\n", + "{'TRANSCRIPT_VAR': '10.93%',\n", + " 'FUSION': '8.60%',\n", + " 'EXPRESSION': '8.28%',\n", " 'REGION_DEFINED_VAR': '5.41%',\n", - " 'PROTEIN_CONS': '3.65%',\n", + " 'PROTEIN_CONS': '3.64%',\n", " 'OTHER': '2.62%',\n", " 'GENE_FUNC': '2.48%',\n", " 'REARRANGEMENTS': '1.42%',\n", @@ -575,7 +575,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 45.26% of the total variants'" + "'The Variation Normalizer does not support 45.23% of the total variants'" ] }, "execution_count": 13, @@ -595,7 +595,7 @@ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 1588'" + "'Total number of variants we do not support in the Variation Normalizer: 1589'" ] }, "execution_count": 14, @@ -713,7 +713,7 @@ { "data": { "text/plain": [ - "'10.94% of the total variants were not attempted to be normalized due to no input query available'" + "'10.93% of the total variants were not attempted to be normalized due to no input query available'" ] }, "execution_count": 19, @@ -741,8 +741,8 @@ { "data": { "text/plain": [ - "{'protein': {'accepted': 631, 'not_accepted': 872, 'count': 1503},\n", - " 'genomic': {'accepted': 245, 'not_accepted': 179, 'count': 424}}" + "{'protein': {'accepted': 631, 'not_accepted': 875, 'count': 1506},\n", + " 'genomic': {'accepted': 245, 'not_accepted': 180, 'count': 425}}" ] }, "execution_count": 20, @@ -762,7 +762,7 @@ { "data": { "text/plain": [ - "1927" + "1931" ] }, "execution_count": 21, @@ -783,7 +783,7 @@ { "data": { "text/plain": [ - "'45.46% of these are accepted variants'" + "'45.37% of these are accepted variants'" ] }, "execution_count": 22, @@ -804,7 +804,7 @@ { "data": { "text/plain": [ - "'54.54% of these are NOT accepted variants'" + "'54.63% of these are NOT accepted variants'" ] }, "execution_count": 23, @@ -825,7 +825,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer SHOULD be able to normalize 54.92% of the total variants'" + "'The Variation Normalizer SHOULD be able to normalize 54.97% of the total variants'" ] }, "execution_count": 24, @@ -855,7 +855,7 @@ { "data": { "text/plain": [ - "{'protein': {'accepted': 8, 'not_accepted': 52, 'count': 60},\n", + "{'protein': {'accepted': 8, 'not_accepted': 53, 'count': 61},\n", " 'genomic': {'accepted': 1, 'not_accepted': 2, 'count': 3}}" ] }, @@ -876,7 +876,7 @@ { "data": { "text/plain": [ - "63" + "64" ] }, "execution_count": 26, @@ -897,7 +897,7 @@ { "data": { "text/plain": [ - "'14.29% of these are accepted variants'" + "'14.06% of these are accepted variants'" ] }, "execution_count": 27, @@ -918,7 +918,7 @@ { "data": { "text/plain": [ - "'85.71% of these are NOT accepted variants'" + "'85.94% of these are NOT accepted variants'" ] }, "execution_count": 28, @@ -939,7 +939,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to normalize 1.7953833000854944% of the total variants'" + "'The Variation Normalizer was unable to normalize 1.8218047253060063% of the total variants'" ] }, "execution_count": 29, @@ -1000,7 +1000,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer found 62 invalid variants (This is 1.77% of the total variants).'" + "'The Variation Normalizer found 63 invalid variants (This is 1.79% of the total variants).'" ] }, "execution_count": 31, @@ -1148,8 +1148,8 @@ { "data": { "text/plain": [ - "{'protein': {'accepted': 621, 'not_accepted': 816, 'count': 1437},\n", - " 'genomic': {'accepted': 244, 'not_accepted': 177, 'count': 421}}" + "{'protein': {'accepted': 621, 'not_accepted': 817, 'count': 1438},\n", + " 'genomic': {'accepted': 244, 'not_accepted': 178, 'count': 422}}" ] }, "execution_count": 37, @@ -1169,7 +1169,7 @@ { "data": { "text/plain": [ - "1858" + "1860" ] }, "execution_count": 38, @@ -1190,7 +1190,7 @@ { "data": { "text/plain": [ - "'46.56% of these are accepted variants'" + "'46.51% of these are accepted variants'" ] }, "execution_count": 39, @@ -1211,7 +1211,7 @@ { "data": { "text/plain": [ - "'53.44% of these are NOT accepted variants'" + "'53.49% of these are NOT accepted variants'" ] }, "execution_count": 40, @@ -1232,7 +1232,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer successfully normalized 96.42% of the variants we SHOULD be able to normalize'" + "'The Variation Normalizer successfully normalized 96.32% of the variants we SHOULD be able to normalize'" ] }, "execution_count": 41, diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index b68a3fc6..f4045164 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -43,6 +43,7 @@ variant_id gene_name variant_name category variant_accepted 461 PML B2 DOMAIN MUTATION Region Defined Variant True 3312 FGFR1 BAG4::FGFR1 Fusion False 3251 BCOR BCOR::CCNB3 Fusion False +3804 ABL1 BCR-ABL Fusion False 1 ABL1 BCR::ABL Fusion True 1607 ABL1 BCR::ABL A365V Fusion False 1608 ABL1 BCR::ABL A366G Fusion False @@ -711,7 +712,7 @@ variant_id gene_name variant_name category variant_accepted 3203 ATRX Mutation Region Defined Variant True 3274 PDGFRA Mutation Region Defined Variant True 4018 MS4A1 Mutation Region Defined Variant True -4437 PPP2R2A Mutation Region Defined Variant False +4437 PPP2R2A Mutation Region Defined Variant True 4438 RAD54L Mutation Region Defined Variant True 4439 BRIP1 Mutation Region Defined Variant True 4440 BARD1 Mutation Region Defined Variant True diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index 5e82287d..ba6fd6a4 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -2,6 +2,7 @@ variant_id query query_type variant_accepted exception_raised message warnings 748 MLH1 *757L protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3718 AR A748V protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3725 AR A765T protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" +4448 ABL1 BCR-ABL T315I protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 248 TERT C228T protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4004 TERT C250T protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3706 AR D221H protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" From 6f03add69c763cb36c9591096c0b3860a059b937 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Wed, 3 May 2023 18:47:36 -0400 Subject: [PATCH 20/29] re-run moa analysis --- notebooks/analysis/moa/moa_analysis.ipynb | 28 +++++++++++------------ notebooks/analysis/moa/no_query.csv | 1 - 2 files changed, 14 insertions(+), 15 deletions(-) diff --git a/notebooks/analysis/moa/moa_analysis.ipynb b/notebooks/analysis/moa/moa_analysis.ipynb index c7591525..82095165 100644 --- a/notebooks/analysis/moa/moa_analysis.ipynb +++ b/notebooks/analysis/moa/moa_analysis.ipynb @@ -9,7 +9,7 @@ "name": "stderr", "output_type": "stream", "text": [ - "/Users/kxk102/.local/share/virtualenvs/variation-normalization-KPVKcmjd/lib/python3.10/site-packages/python_jsonschema_objects/__init__.py:49: UserWarning: Schema version http://json-schema.org/draft-07/schema not recognized. Some keywords and features may not be supported.\n", + "/Users/kxk102/.local/share/virtualenvs/variation-normalization-KPVKcmjd/lib/python3.11/site-packages/python_jsonschema_objects/__init__.py:49: UserWarning: Schema version http://json-schema.org/draft-07/schema not recognized. Some keywords and features may not be supported.\n", " warnings.warn(\n" ] } @@ -269,7 +269,7 @@ { "data": { "text/plain": [ - "'Total number of variants in MOAlmanac: 424'" + "'Total number of variants in MOAlmanac: 423'" ] }, "execution_count": 8, @@ -297,7 +297,7 @@ { "data": { "text/plain": [ - "1" + "0" ] }, "execution_count": 9, @@ -317,7 +317,7 @@ { "data": { "text/plain": [ - "'0.24% of the total features had no queries'" + "'0.00% of the total features had no queries'" ] }, "execution_count": 10, @@ -366,7 +366,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 57.55% of the total variants'" + "'The Variation Normalizer does not support 57.68% of the total variants'" ] }, "execution_count": 12, @@ -434,11 +434,11 @@ { "data": { "text/plain": [ - "{'PROTEIN_CONS': '41.51%',\n", - " 'REARRANGEMENTS': '8.49%',\n", - " 'COPY_NUMBER': '4.01%',\n", - " 'EXPRESSION': '2.59%',\n", - " 'OTHER': '0.94%',\n", + "{'PROTEIN_CONS': '41.61%',\n", + " 'REARRANGEMENTS': '8.51%',\n", + " 'COPY_NUMBER': '4.02%',\n", + " 'EXPRESSION': '2.60%',\n", + " 'OTHER': '0.95%',\n", " 'EPIGENETIC_MODIFICATION': '0.00%',\n", " 'FUSION': '0.00%',\n", " 'GENE_FUNC': '0.00%',\n", @@ -465,7 +465,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 57.55% of the total variants'" + "'The Variation Normalizer does not support 57.68% of the total variants'" ] }, "execution_count": 15, @@ -513,7 +513,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer SHOULD be able to normalize 42.22% of the total variants'" + "'The Variation Normalizer SHOULD be able to normalize 42.32% of the total variants'" ] }, "execution_count": 17, @@ -770,7 +770,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer successfully normalized 42.22% of the total variants'" + "'The Variation Normalizer successfully normalized 42.32% of the total variants'" ] }, "execution_count": 27, @@ -840,7 +840,7 @@ "name": "python", "nbconvert_exporter": "python", "pygments_lexer": "ipython3", - "version": "3.10.8" + "version": "3.11.3" }, "orig_nbformat": 4, "vscode": { diff --git a/notebooks/analysis/moa/no_query.csv b/notebooks/analysis/moa/no_query.csv index 080a1669..b808f18d 100644 --- a/notebooks/analysis/moa/no_query.csv +++ b/notebooks/analysis/moa/no_query.csv @@ -1,2 +1 @@ variant_id feature -874 {'attributes': [{'feature_type': 'somatic_variant'}], 'feature_id': 874, 'feature_type': 'somatic_variant'} From ab451446aff9097a0c30e4f34832f445aa10c35f Mon Sep 17 00:00:00 2001 From: korikuzma Date: Sun, 7 May 2023 19:22:24 -0400 Subject: [PATCH 21/29] re-run analysis with snv as region defined var --- .../civic/able_to_normalize_queries.csv | 1 + .../civic/all_protein_variant_queries.csv | 4 +- notebooks/analysis/civic/civic_analysis.ipynb | 61 ++++++++++--------- .../analysis/civic/not_supported_variants.csv | 8 ++- .../civic/unable_to_normalize_queries.csv | 2 - 5 files changed, 38 insertions(+), 38 deletions(-) diff --git a/notebooks/analysis/civic/able_to_normalize_queries.csv b/notebooks/analysis/civic/able_to_normalize_queries.csv index d75ca9fe..18317525 100644 --- a/notebooks/analysis/civic/able_to_normalize_queries.csv +++ b/notebooks/analysis/civic/able_to_normalize_queries.csv @@ -352,6 +352,7 @@ variant_id query query_type variant_accepted 1162 ATM E2187* protein True 3780 TP53 E224K protein True 4427 MTOR E2419K protein True +3 ABL1 E255K protein True 1601 ABL1 E258D protein False 3772 TP53 E258K protein True 1552 MAPK1 E278E protein False diff --git a/notebooks/analysis/civic/all_protein_variant_queries.csv b/notebooks/analysis/civic/all_protein_variant_queries.csv index c5e3ad6a..ae95d389 100644 --- a/notebooks/analysis/civic/all_protein_variant_queries.csv +++ b/notebooks/analysis/civic/all_protein_variant_queries.csv @@ -118,8 +118,6 @@ variant_id gene_name variant_name variant_accepted 3687 KMT2A Amplification False 4301 ALK Amplification True 4423 TBXT Amplification False -3804 ABL1 BCR-ABL False -4448 ABL1 BCR-ABL T315I False 4331 ALK C1156Y True 627 MAP2K1 C121S True 4113 TP53 C124R True @@ -314,6 +312,7 @@ variant_id gene_name variant_name variant_accepted 1162 ATM E2187* True 3780 TP53 E224K True 4427 MTOR E2419K True +3 ABL1 E255K True 1601 ABL1 E258D False 3772 TP53 E258K True 1552 MAPK1 E278E False @@ -1259,7 +1258,6 @@ variant_id gene_name variant_name variant_accepted 262 ABCB1 S893T True 3652 KDR S925F False 3645 PIM1 S97N True -4425 SMARCB1 Single nucleotide variant False 4330 ALK T1151K False 1493 ALK T1151M False 743 MLH1 T117M True diff --git a/notebooks/analysis/civic/civic_analysis.ipynb b/notebooks/analysis/civic/civic_analysis.ipynb index 8cefada6..fcc39917 100644 --- a/notebooks/analysis/civic/civic_analysis.ipynb +++ b/notebooks/analysis/civic/civic_analysis.ipynb @@ -107,7 +107,7 @@ { "data": { "text/plain": [ - "'Total Number of variants in CIViC: 3513'" + "'Total Number of variants in CIViC: 3514'" ] }, "execution_count": 6, @@ -206,7 +206,8 @@ " VariantCategory.REGION_DEFINED_VAR: {\n", " \"deleterious mutation\", \"domain mutation\", \"polymorphism\", \n", " \"non-p-loop mutation\", \"p-loop mutation\", \"3' utr mutation\", \"alteration\",\n", - " \"t17 deletion\", \"exon\", \"ex19 del l858r\", \"promoter mutation\", \"non-v600\"\n", + " \"t17 deletion\", \"exon\", \"ex19 del l858r\", \"promoter mutation\", \"non-v600\",\n", + " \"single nucleotide variant\"\n", " }\n", "}" ] @@ -505,16 +506,16 @@ "data": { "text/plain": [ "{'TRANSCRIPT_VAR': 384,\n", - " 'FUSION': 302,\n", + " 'FUSION': 299,\n", " 'EXPRESSION': 291,\n", - " 'REGION_DEFINED_VAR': 190,\n", + " 'REGION_DEFINED_VAR': 193,\n", " 'PROTEIN_CONS': 128,\n", " 'OTHER': 92,\n", - " 'GENE_FUNC': 87,\n", + " 'GENE_FUNC': 88,\n", " 'REARRANGEMENTS': 50,\n", " 'COPY_NUMBER': 34,\n", " 'EPIGENETIC_MODIFICATION': 15,\n", - " 'GENOTYPES_EASY': 10,\n", + " 'GENOTYPES_EASY': 11,\n", " 'GENOTYPES_COMPOUND': 6}" ] }, @@ -545,16 +546,16 @@ "data": { "text/plain": [ "{'TRANSCRIPT_VAR': '10.93%',\n", - " 'FUSION': '8.60%',\n", + " 'FUSION': '8.51%',\n", " 'EXPRESSION': '8.28%',\n", - " 'REGION_DEFINED_VAR': '5.41%',\n", + " 'REGION_DEFINED_VAR': '5.49%',\n", " 'PROTEIN_CONS': '3.64%',\n", " 'OTHER': '2.62%',\n", - " 'GENE_FUNC': '2.48%',\n", + " 'GENE_FUNC': '2.50%',\n", " 'REARRANGEMENTS': '1.42%',\n", " 'COPY_NUMBER': '0.97%',\n", " 'EPIGENETIC_MODIFICATION': '0.43%',\n", - " 'GENOTYPES_EASY': '0.28%',\n", + " 'GENOTYPES_EASY': '0.31%',\n", " 'GENOTYPES_COMPOUND': '0.17%'}" ] }, @@ -575,7 +576,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer does not support 45.23% of the total variants'" + "'The Variation Normalizer does not support 45.28% of the total variants'" ] }, "execution_count": 13, @@ -595,7 +596,7 @@ { "data": { "text/plain": [ - "'Total number of variants we do not support in the Variation Normalizer: 1589'" + "'Total number of variants we do not support in the Variation Normalizer: 1591'" ] }, "execution_count": 14, @@ -741,7 +742,7 @@ { "data": { "text/plain": [ - "{'protein': {'accepted': 631, 'not_accepted': 875, 'count': 1506},\n", + "{'protein': {'accepted': 632, 'not_accepted': 872, 'count': 1504},\n", " 'genomic': {'accepted': 245, 'not_accepted': 180, 'count': 425}}" ] }, @@ -762,7 +763,7 @@ { "data": { "text/plain": [ - "1931" + "1929" ] }, "execution_count": 21, @@ -783,7 +784,7 @@ { "data": { "text/plain": [ - "'45.37% of these are accepted variants'" + "'45.46% of these are accepted variants'" ] }, "execution_count": 22, @@ -804,7 +805,7 @@ { "data": { "text/plain": [ - "'54.63% of these are NOT accepted variants'" + "'54.54% of these are NOT accepted variants'" ] }, "execution_count": 23, @@ -825,7 +826,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer SHOULD be able to normalize 54.97% of the total variants'" + "'The Variation Normalizer SHOULD be able to normalize 54.89% of the total variants'" ] }, "execution_count": 24, @@ -855,7 +856,7 @@ { "data": { "text/plain": [ - "{'protein': {'accepted': 8, 'not_accepted': 53, 'count': 61},\n", + "{'protein': {'accepted': 8, 'not_accepted': 51, 'count': 59},\n", " 'genomic': {'accepted': 1, 'not_accepted': 2, 'count': 3}}" ] }, @@ -876,7 +877,7 @@ { "data": { "text/plain": [ - "64" + "62" ] }, "execution_count": 26, @@ -897,7 +898,7 @@ { "data": { "text/plain": [ - "'14.06% of these are accepted variants'" + "'14.52% of these are accepted variants'" ] }, "execution_count": 27, @@ -918,7 +919,7 @@ { "data": { "text/plain": [ - "'85.94% of these are NOT accepted variants'" + "'85.48% of these are NOT accepted variants'" ] }, "execution_count": 28, @@ -939,7 +940,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to normalize 1.8218047253060063% of the total variants'" + "'The Variation Normalizer was unable to normalize 1.7643710870802503% of the total variants'" ] }, "execution_count": 29, @@ -1000,7 +1001,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer found 63 invalid variants (This is 1.79% of the total variants).'" + "'The Variation Normalizer found 62 invalid variants (This is 1.76% of the total variants).'" ] }, "execution_count": 31, @@ -1030,7 +1031,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer was unable to tokenize 1 variants (0.03% of the total variants).'" + "'The Variation Normalizer was unable to tokenize 0 variants (0.00% of the total variants).'" ] }, "execution_count": 32, @@ -1148,7 +1149,7 @@ { "data": { "text/plain": [ - "{'protein': {'accepted': 621, 'not_accepted': 817, 'count': 1438},\n", + "{'protein': {'accepted': 622, 'not_accepted': 817, 'count': 1439},\n", " 'genomic': {'accepted': 244, 'not_accepted': 178, 'count': 422}}" ] }, @@ -1169,7 +1170,7 @@ { "data": { "text/plain": [ - "1860" + "1861" ] }, "execution_count": 38, @@ -1190,7 +1191,7 @@ { "data": { "text/plain": [ - "'46.51% of these are accepted variants'" + "'46.53% of these are accepted variants'" ] }, "execution_count": 39, @@ -1211,7 +1212,7 @@ { "data": { "text/plain": [ - "'53.49% of these are NOT accepted variants'" + "'53.47% of these are NOT accepted variants'" ] }, "execution_count": 40, @@ -1232,7 +1233,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer successfully normalized 96.32% of the variants we SHOULD be able to normalize'" + "'The Variation Normalizer successfully normalized 96.47% of the variants we SHOULD be able to normalize'" ] }, "execution_count": 41, @@ -1252,7 +1253,7 @@ { "data": { "text/plain": [ - "'The Variation Normalizer successfully normalized 52.95% of the total variants'" + "'The Variation Normalizer successfully normalized 52.96% of the total variants'" ] }, "execution_count": 42, diff --git a/notebooks/analysis/civic/not_supported_variants.csv b/notebooks/analysis/civic/not_supported_variants.csv index f4045164..29a6104d 100644 --- a/notebooks/analysis/civic/not_supported_variants.csv +++ b/notebooks/analysis/civic/not_supported_variants.csv @@ -43,7 +43,6 @@ variant_id gene_name variant_name category variant_accepted 461 PML B2 DOMAIN MUTATION Region Defined Variant True 3312 FGFR1 BAG4::FGFR1 Fusion False 3251 BCOR BCOR::CCNB3 Fusion False -3804 ABL1 BCR-ABL Fusion False 1 ABL1 BCR::ABL Fusion True 1607 ABL1 BCR::ABL A365V Fusion False 1608 ABL1 BCR::ABL A366G Fusion False @@ -51,7 +50,6 @@ variant_id gene_name variant_name category variant_accepted 1027 ABL1 BCR::ABL D276G Fusion True 2900 ABL1 BCR::ABL D363G Fusion True 1532 ABL1 BCR::ABL D421G Fusion True -3 ABL1 BCR::ABL E255K Fusion True 2890 ABL1 BCR::ABL E255K V299L Fusion True 1173 ABL1 BCR::ABL E255V Fusion True 1526 ABL1 BCR::ABL E279K Fusion True @@ -70,7 +68,6 @@ variant_id gene_name variant_name category variant_accepted 2358 ABL1 BCR::ABL F311V Fusion False 2359 ABL1 BCR::ABL F317C Fusion True 1625 ABL1 BCR::ABL F317I Fusion True -241 ABL1 BCR::ABL F317L Fusion False 2888 ABL1 BCR::ABL F317R Fusion True 2343 ABL1 BCR::ABL F317S Fusion True 1184 ABL1 BCR::ABL F359C Fusion True @@ -581,6 +578,7 @@ variant_id gene_name variant_name category variant_accepted 2754 PRKN Loss Gene Function False 3202 SMARCB1 Loss Gene Function True 4310 KDM6A Loss Gene Function False +4452 TP53 Loss Gene Function True 125 TSC1 Loss-of-function Gene Function True 131 BRCA1 Loss-of-function Gene Function True 132 BRCA2 Loss-of-function Gene Function True @@ -1045,6 +1043,7 @@ variant_id gene_name variant_name category variant_accepted 2218 ALK STRN::ALK Fusion True 2287 NTRK2 STRN::NTRK2 Fusion True 3108 VHL Single Allele Deletion Genotypes Compound False +4425 SMARCB1 Single nucleotide variant Region Defined Variant False 3409 TEK T1105N and T1106N Protein Consequence False 4389 ALK T1151dup Copy Number True 810 RUNX1 T148HFSX9 Protein Consequence True @@ -1149,6 +1148,7 @@ variant_id gene_name variant_name category variant_accepted 2174 EGFR Wildtype Genotypes Easy True 2590 PIK3CA Wildtype Genotypes Easy True 3200 KRAS Wildtype Genotypes Easy True +4465 NRAS Wildtype Genotypes Easy False 390 EGFR Y1092 PHOSPHORYLATION Epigenetic Modification True 245 NF2 Y177fs Protein Consequence True 2720 TP53 Y205 Protein Consequence False @@ -1180,6 +1180,8 @@ variant_id gene_name variant_name category variant_accepted 3323 VEGFA low ratio of VEGF165b/VEGFtotal Expression False 2845 HOXD8 mutation Region Defined Variant False 4436 CHEK2 mutation Region Defined Variant True +4463 TSC1 mutation Region Defined Variant False +4464 TSC2 mutation Region Defined Variant False 3322 VEGFA overexpression of VEGF-Axxxa Expression False 2411 SDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC) Copy Number True 3057 GATA1 p.Ser51Alafs*86 Protein Consequence False diff --git a/notebooks/analysis/civic/unable_to_normalize_queries.csv b/notebooks/analysis/civic/unable_to_normalize_queries.csv index ba6fd6a4..8db924ec 100644 --- a/notebooks/analysis/civic/unable_to_normalize_queries.csv +++ b/notebooks/analysis/civic/unable_to_normalize_queries.csv @@ -2,7 +2,6 @@ variant_id query query_type variant_accepted exception_raised message warnings 748 MLH1 *757L protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3718 AR A748V protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3725 AR A765T protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -4448 ABL1 BCR-ABL T315I protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 248 TERT C228T protein True False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 4004 TERT C250T protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3706 AR D221H protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" @@ -51,7 +50,6 @@ variant_id query query_type variant_accepted exception_raised message warnings 3677 NOTCH1 S2514P protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3709 AR S296R protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 3723 AR S759P protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" -4425 SMARCB1 Single nucleotide variant protein False False unable to normalize ['Unable to tokenize Single', 'Unable to tokenize nucleotide', 'Unable to tokenize variant'] 3675 NOTCH1 T2512A protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" 1546 KIT T417_D419DELTYDINSI protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein deletion'}""]" 3445 BRAF T598I protein False False unable to normalize "[""Unable to find valid result for classifications: {'protein substitution'}""]" From 93bd47bfcce53a52ab52306de059f302782c0e29 Mon Sep 17 00:00:00 2001 From: korikuzma Date: Mon, 15 May 2023 17:38:09 -0400 Subject: [PATCH 22/29] add civicpy cache --- .pre-commit-config.yaml | 1 + .../analysis/civic/cache-20230515.pkl.zip | Bin 0 -> 7199920 bytes 2 files changed, 1 insertion(+) create mode 100644 notebooks/analysis/civic/cache-20230515.pkl.zip diff --git a/.pre-commit-config.yaml b/.pre-commit-config.yaml index d80454b7..b19112b8 100644 --- a/.pre-commit-config.yaml +++ b/.pre-commit-config.yaml @@ -7,6 +7,7 @@ repos: - id: flake8 additional_dependencies: [flake8-docstrings, flake8-quotes, flake8-import-order, flake8-annotations] - id: check-added-large-files + exclude: ^notebooks/analysis/ - id: detect-private-key - id: trailing-whitespace - id: end-of-file-fixer diff --git a/notebooks/analysis/civic/cache-20230515.pkl.zip 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