Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values CDK11B 728642 broad.mit.edu 37 1 1636296 1636296 + Missense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:1636296C>T uc010nyt.1 - 12 1613 c.1505G>A c.(1504-1506)cGa>cAa p.R502Q CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Intron|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Intron|CDK11B_uc009vks.3_Intron|CDK11B_uc010nys.2_Intron P21127 CD11B_HUMAN Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA. 0 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 GGGGCCCTGTCGGAAAAGCCT 0.607 HES5 388585 broad.mit.edu 37 1 2461382 2461382 + Silent SNP C C G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:2461382C>G uc001ajn.3 - 1 204 c.123G>C c.(121-123)ctG>ctC p.L41L NM_001010926 NP_001010926 Q5TA89 HES5_HUMAN Homo sapiens hairy and enhancer of split 5 (Drosophila) (HES5), mRNA. 41 Helix-loop-helix motif. transcription, DNA-dependent nucleus lung(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;4.41e-16)|all_lung(118;6.66e-07)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;2.59e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) GCTCCAGCAGCAGCTTCAGCT 0.647 PTPRF 5792 broad.mit.edu 37 1 44085120 44085120 + Missense_Mutation SNP C C A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:44085120C>A uc001cjr.3 + 27 5148 c.4808C>A c.(4807-4809)gCg>gAg p.A1603E PTPRF_uc001cjs.3_Missense_Mutation_p.A1594E|PTPRF_uc001cju.3_Missense_Mutation_p.A992E|PTPRF_uc009vwt.3_Missense_Mutation_p.A1163E|PTPRF_uc001cjv.3_Missense_Mutation_p.A1074E|PTPRF_uc001cjw.3_Missense_Mutation_p.A829E NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1603 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATCCATGAGGCGCTGCTGGAG 0.607 KANK4 163782 broad.mit.edu 37 1 62728946 62728946 + Missense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:62728946C>T uc001dah.4 - 6 2734 c.2357G>A c.(2356-2358)cGc>cAc p.R786H KANK4_uc001dai.4_Missense_Mutation_p.R158H|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Missense_Mutation_p.R142H NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 786 R -> H (in Ref. 1; BAC03774). NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GCTGGAGACGCGGAACCACTC 0.562 CSDE1 7812 broad.mit.edu 37 1 115272925 115272925 + Missense_Mutation SNP G G C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:115272925G>C uc001efi.3 - 12 1970 c.1448C>G c.(1447-1449)aCt>aGt p.T483S CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.T437S|CSDE1_uc001efm.3_Missense_Mutation_p.T452S|CSDE1_uc009wgv.3_Missense_Mutation_p.T437S|CSDE1_uc001efl.3_Missense_Mutation_p.T406S|CSDE1_uc001efn.3_Missense_Mutation_p.T406S NM_001242891 NP_001229820 O75534 CSDE1_HUMAN Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA. 437 CSD 6. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTGGAAAAAGTGGCTTCTTT 0.378 F11R 50848 broad.mit.edu 37 1 160970003 160970003 + Missense_Mutation SNP G G A rs144844671 by1000genomes TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:160970003G>A uc009wtt.3 - 4 794 c.524C>T c.(523-525)aCg>aTg p.T175M F11R_uc010pjv.2_Missense_Mutation_p.T126M|F11R_uc010pjw.2_Missense_Mutation_p.T179M|F11R_uc001fxf.4_Missense_Mutation_p.T175M NM_016946 NP_058642 Q9Y624 JAM1_HUMAN Homo sapiens F11 receptor (F11R), mRNA. 175 Ig-like V-type 2. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) TTTGGGATTCGTAGGCATCAC 0.517 LAMC1 3915 broad.mit.edu 37 1 183101569 183101569 + Missense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:183101569G>A uc001gpy.4 + 20 3858 c.3601G>A c.(3601-3603)Gca>Aca p.A1201T NM_002293 NP_002284 P11047 LAMC1_HUMAN Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA. 1201 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTTCGAGTGGCAAAGACAGC 0.388 ZC3H11A 9877 broad.mit.edu 37 1 203818961 203818961 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:203818961G>A uc001hac.3 + 16 2362 c.1746G>A c.(1744-1746)cgG>cgA p.R582R ZC3H11A_uc001had.3_Silent_p.R582R|ZC3H11A_uc001hae.3_Silent_p.R582R|ZC3H11A_uc001haf.3_Silent_p.R582R|ZC3H11A_uc010pqm.2_Silent_p.R528R|ZC3H11A_uc001hag.1_Silent_p.R582R NM_014827 NP_055642 O75152 ZC11A_HUMAN Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA. 582 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CACCTCTTCGGGGAGATGTAG 0.493 CEP170 9859 broad.mit.edu 37 1 243362438 243362438 + Silent SNP A A G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:243362438A>G uc021plo.1 - 6 963 c.555T>C c.(553-555)gaT>gaC p.D185D CEP170_uc021plp.1_Silent_p.D185D|CEP170_uc021plq.1_Silent_p.D185D NM_014812 NP_055627 Q5SW79 CE170_HUMAN Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA. 185 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CCACCTCATCATCCCCCCACC 0.428 ALDH18A1 5832 broad.mit.edu 37 10 97396856 97396856 + Silent SNP A A T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr10:97396856A>T uc001kkz.3 - 4 794 c.552T>A c.(550-552)gcT>gcA p.A184A ALDH18A1_uc001kky.3_Silent_p.A184A|ALDH18A1_uc010qog.2_Silent_p.A73A|ALDH18A1_uc010qoh.2_Intron NM_002860 NP_002851 P54886 P5CS_HUMAN Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 184 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) TCACCTGGGCAGCACAGATGC 0.547 ADAM8 101 broad.mit.edu 37 10 135084467 135084467 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr10:135084467G>A uc021qbe.1 - 13 1568 c.1482C>T c.(1480-1482)aaC>aaT p.N494N ADAM8_uc009ybi.3_Silent_p.N494N|ADAM8_uc010qva.2_Silent_p.N455N NM_001109 NP_001100 B4DVM6 B4DVM6_HUMAN Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA. 455 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) AGGGCGTGCCGTTCTCCTGGA 0.667 C11orf35 256329 broad.mit.edu 37 11 558885 558885 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:558885G>A uc001lpx.3 - 1 192 c.129C>T c.(127-129)ccC>ccT p.P43P AX748330_uc001lpy.3_Non-coding_Transcript|BC031953_uc001lpz.3_5'Flank|RASSF7_uc001lqb.3_5'Flank|RASSF7_uc001lqc.3_5'Flank|RASSF7_uc001lqd.3_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA. 43 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCACCGGTGCGGGGTGGGGCG 0.692 OR51E2 81285 broad.mit.edu 37 11 4703127 4703127 + Missense_Mutation SNP C C T rs138231892 TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:4703127C>T uc001lzk.2 - 1 1059 c.815G>A c.(814-816)cGt>cAt p.R272H OR51E2_uc021qcr.1_Missense_Mutation_p.R272H NM_030774 NP_110401 Q9H255 O51E2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA. 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CATGACAACACGCACAATGGG 0.507 OR52N4 390072 broad.mit.edu 37 11 5776764 5776764 + Missense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:5776764G>A uc001mbu.3 + 0 842 c.794G>A c.(793-795)cGc>cAc p.R265H TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TTTTCCCACCGCTTTGGGGAA 0.468 OR8I2 120586 broad.mit.edu 37 11 55861299 55861299 + Missense_Mutation SNP C C A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:55861299C>A uc010rix.2 + 0 516 c.516C>A c.(514-516)agC>agA p.S172R NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA. 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GTGATTCCAGCATCAATCATT 0.448 TBC1D10C 374403 broad.mit.edu 37 11 67177159 67177159 + Frame_Shift_Del DEL C C - TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:67177159delC uc001ola.3 + 9 1304 c.1275delC c.(1273-1275)ggcfs p.G425fs PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript NM_198517 NP_940919 Q8IV04 TB10C_HUMAN Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA. 425 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGGCCCGGGGCCCCCCCATCG 0.682 ST14 6768 broad.mit.edu 37 11 130069857 130069857 + Missense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:130069857C>T uc001qfw.3 + 15 2012 c.1819C>T c.(1819-1821)Cgg>Tgg p.R607W NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA. 607 proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CTGTGGGCTGCGGTCATTCAC 0.612 FOXJ2 55810 broad.mit.edu 37 12 8201337 8201337 + Missense_Mutation SNP A A G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:8201337A>G uc001qtu.3 + 7 2355 c.1270A>G c.(1270-1272)Agc>Ggc p.S424G FOXJ2_uc001qtt.1_Missense_Mutation_p.S424G NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN Homo sapiens forkhead box J2 (FOXJ2), mRNA. 424 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TTTAAAGGAAAGCTTCAAGAT 0.428 CACNB3 784 broad.mit.edu 37 12 49217552 49217552 + Missense_Mutation SNP A A G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:49217552A>G uc001rsl.2 + 2 716 c.257A>G c.(256-258)aAc>aGc p.N86S CACNB3_uc010slx.2_Missense_Mutation_p.N73S|CACNB3_uc010sly.2_Missense_Mutation_p.N73S|CACNB3_uc010slz.2_Missense_Mutation_p.N85S|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Intron NM_000725 NP_000716 P54284 CACB3_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA. 86 SH3. axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) TCTGGAGTCAACTTTGAGGCC 0.493 ESPL1 9700 broad.mit.edu 37 12 53662942 53662942 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:53662942G>A uc001sck.2 + 2 307 c.216G>A c.(214-216)ggG>ggA p.G72G ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA. 72 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GGCATCTGGGGAGCCTGCTGG 0.567 NEDD1 121441 broad.mit.edu 37 12 97345747 97345747 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:97345747G>A uc001tew.3 + 14 2066 c.1920G>A c.(1918-1920)ctG>ctA p.L640L NEDD1_uc001teu.4_Silent_p.L633L|NEDD1_uc001tev.4_Silent_p.L633L|NEDD1_uc010svc.2_Silent_p.L544L|NEDD1_uc001tex.3_Silent_p.L544L NM_001135175 NP_001128649 Q8NHV4 NEDD1_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA. 633 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 ATTCTTTGCTGGAAAGATACT 0.323 ATXN2 6311 broad.mit.edu 37 12 111895056 111895056 + Nonsense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:111895056G>A uc001tsj.3 - 21 3640 c.3478C>T c.(3478-3480)Caa>Taa p.Q1160* ATXN2_uc001tsh.3_Nonsense_Mutation_p.Q895*|ATXN2_uc001tsi.3_Nonsense_Mutation_p.Q853*|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Nonsense_Mutation_p.Q161* NM_002973 NP_002964 Q99700 ATX2_HUMAN Homo sapiens ataxin 2 (ATXN2), mRNA. 1160 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CCACCATGTTGGCTTTGCTGC 0.552 FZD10 11211 broad.mit.edu 37 12 130648665 130648665 + Missense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:130648665C>T uc001uii.3 + 0 1662 c.1178C>T c.(1177-1179)gCg>gTg p.A393V FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN Homo sapiens frizzled family receptor 10 (FZD10), mRNA. 393 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.A393S(1)|p.N392K(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GACGTCAACGCGCTCACCGGC 0.657 CYP46A1 10858 broad.mit.edu 37 14 100166408 100166408 + Missense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr14:100166408G>A uc001ygo.3 + 4 413 c.413G>A c.(412-414)cGg>cAg p.R138Q CYP46A1_uc001ygn.1_Missense_Mutation_p.R100Q NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA. 138 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity p.Q137Q(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) CACAAGCAGCGGAGAGTCATA 0.627 AHNAK2 113146 broad.mit.edu 37 14 105410901 105410901 + Missense_Mutation SNP C C A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr14:105410901C>A uc010axc.1 - 6 11007 c.10887G>T c.(10885-10887)aaG>aaT p.K3629N AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.K3529N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3629 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGTCACGTCCTTGTCAGCCA 0.597 AHNAK2 113146 broad.mit.edu 37 14 105418389 105418389 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr14:105418389G>A uc010axc.1 - 6 3519 c.3399C>T c.(3397-3399)gtC>gtT p.V1133V AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V1033V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 1133 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGGGGCCTCGACGTCCACCT 0.632 OR4N4 283694 broad.mit.edu 37 15 22332433 22332433 + Translation_Start_Site SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr15:22332433G>A uc001yuc.1 + 2 abParts_uc001yuj.2_Intron|OR4N4_uc001ytz.1_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AGATTCTAACGTGACAGAACT 0.343 DUOX2 50506 broad.mit.edu 37 15 45393418 45393418 + Missense_Mutation SNP C C T rs146664125 byFrequency TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr15:45393418C>T uc001zun.3 - 21 3109 c.2906G>A c.(2905-2907)cGg>cAg p.R969Q DUOX2_uc010bea.3_Missense_Mutation_p.R969Q NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 969 Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCCAGGTGTCCGAGTGATGAA 0.547 CCPG1 9236 broad.mit.edu 37 15 55652558 55652559 + Frame_Shift_Ins INS - - C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr15:55652558_55652559insC uc010bfk.2 - 7 1711_1712 c.1412_1413insG c.(1411-1413)ggcfs p.G471fs CCPG1_uc002acy.3_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acu.2_Frame_Shift_Ins_p.G327fs|CCPG1_uc002acz.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acw.2_Frame_Shift_Ins_p.G196fs|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc021smu.1_Frame_Shift_Ins_p.G91fs NM_001204450 NP_001191379 Q9ULG6 CCPG1_HUMAN Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA. 471 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) GGCTTCCTCTGCCCCCTTTCTT 0.391 GFOD2 81577 broad.mit.edu 37 16 67709764 67709764 + Missense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr16:67709764C>T uc002eub.3 - 2 747 c.452G>A c.(451-453)cGc>cAc p.R151H GFOD2_uc002euc.3_Missense_Mutation_p.R46H|GFOD2_uc002eua.1_Non-coding_Transcript NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA. 151 proteinaceous extracellular matrix binding|oxidoreductase activity breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) TGAGTAGATGCGGGCATCACA 0.592 CBFA2T3 863 broad.mit.edu 37 16 88945788 88945788 + Missense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr16:88945788C>T uc002fmm.2 - 10 1841 c.1552G>A c.(1552-1554)Gag>Aag p.E518K CBFA2T3_uc002fml.2_Missense_Mutation_p.E432K|CBFA2T3_uc002fmk.2_Missense_Mutation_p.E17K NM_005187 NP_005178 O75081 MTG16_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA. 518 E -> K (in a colorectal cancer sample; somatic mutation). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E518K(2)|p.H517H(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GTGATGAGCTCGTGCGCTTTG 0.657 T RUNX1 AML GPR179 440435 broad.mit.edu 37 17 36499303 36499303 + Missense_Mutation SNP C C G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr17:36499303C>G uc002hpz.3 - 0 391 c.370G>C c.(370-372)Gag>Cag p.E124Q NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 124 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACATCCTCCTCCACACTGGAC 0.627 TMEM241 85019 broad.mit.edu 37 18 20889650 20889650 + Missense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr18:20889650G>A uc002kuf.3 - 13 933 c.824C>T c.(823-825)aCg>aTg p.T275M TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript|TMEM241_uc002kue.3_Non-coding_Transcript NM_032933 NP_116322 Q24JQ0 CR045_HUMAN Homo sapiens transmembrane protein 241 (TMEM241), mRNA. 275 integral to membrane TTACCATCCCGTGGTTGCACT 0.403 MIER2 54531 broad.mit.edu 37 19 307371 307371 + Missense_Mutation SNP T T C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr19:307371T>C uc002lok.1 - 12 1373 c.1364A>G c.(1363-1365)tAc>tGc p.Y455C NM_017550 NP_060020 Q8N344 MIER2_HUMAN Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA. 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTGGCTGGTATGAGGCTGG 0.687 CHAF1A 10036 broad.mit.edu 37 19 4409704 4409704 + Missense_Mutation SNP C C A rs150305585 TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr19:4409704C>A uc002mal.3 + 2 1008 c.908C>A c.(907-909)cCa>cAa p.P303Q NM_005483 NP_005474 Q13111 CAF1A_HUMAN Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA. 303 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCTCCCCCAAAGCAGCAC 0.612 Chromatin Structure PLEKHG2 64857 broad.mit.edu 37 19 39913972 39913972 + Missense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr19:39913972G>A uc010xuz.2 + 17 2603 c.2278G>A c.(2278-2280)Gca>Aca p.A760T PLEKHG2_uc010xuy.2_Missense_Mutation_p.A701T|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.A538T NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 760 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGATGAGCTGGCATTCCGCTC 0.597 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:114357557A>G uc010yxx.1 - 2 709 c.382T>C c.(382-384)Tag>Cag p.*128Q Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA. GCCTACTTCTAGTGAAACTGG 0.567 TTN 7273 broad.mit.edu 37 2 179442793 179442793 + Nonsense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:179442793G>A uc021vsy.1 - 270 60970 c.60745C>T c.(60745-60747)Cga>Tga p.R20249* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R13944*|TTN_uc021vta.1_Nonsense_Mutation_p.R13877*|TTN_uc021vtb.1_Nonsense_Mutation_p.R13752*|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21176 Ig-like 111. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R13944*(1)|p.R20247*(1)|p.R20249*(1)|p.R13752*(1)|p.R13877*(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCATAACTCGGAATTCATAT 0.423 KCTD18 130535 broad.mit.edu 37 2 201371625 201371625 + Missense_Mutation SNP C C A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:201371625C>A uc002uvs.3 - 1 632 c.115G>T c.(115-117)Gca>Tca p.A39S KCTD18_uc002uvt.3_Missense_Mutation_p.A39S|KCTD18_uc002uvu.1_Missense_Mutation_p.A39S NM_152387 NP_689600 Q6PI47 KCD18_HUMAN Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA. 39 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 AACATAGATGCCAACATGGAG 0.458 PARD3B 117583 broad.mit.edu 37 2 205986432 205986432 + Silent SNP T T C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:205986432T>C uc002var.2 + 7 1131 c.924T>C c.(922-924)ggT>ggC p.G308G PARD3B_uc010fub.2_Silent_p.G308G|PARD3B_uc002vao.2_Silent_p.G308G|PARD3B_uc002vap.2_Silent_p.G308G|PARD3B_uc002vaq.2_Silent_p.G308G NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 308 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) ACATTTTTGGTAATAATGATG 0.453 ALPP 250 broad.mit.edu 37 2 233244353 233244353 + Missense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:233244353G>A uc002vsq.3 + 3 605 c.440G>A c.(439-441)cGc>cAc p.R147H NM_001632 NP_001623 P05187 PPB1_HUMAN Homo sapiens alkaline phosphatase, placental (ALPP), mRNA. 147 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) AACACGACACGCGGCAACGAG 0.607 TGM3 7053 broad.mit.edu 37 20 2320632 2320632 + Missense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr20:2320632G>A uc002wfx.4 + 12 2031 c.1934_splice c.e12+1 p.D645_splice NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 645 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CCTGAAGATCGAGTGAGTCCT 0.642 SEMG2 6406 broad.mit.edu 37 20 43836470 43836470 + Missense_Mutation SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr20:43836470G>A uc010ggz.3 + SEMG2_uc002xni.2_Missense_Mutation_p.V178I|SEMG2_uc002xnj.2_Missense_Mutation_p.V178I NM_003008 NP_002999 Q02383 SEMG2_HUMAN Homo sapiens semenogelin II (SEMG2), mRNA. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) ACAAACTTCCGTCTCTGGTGC 0.423 KRTAP6-1 337966 broad.mit.edu 37 21 31986055 31986055 + Missense_Mutation SNP A A T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr21:31986055A>T uc002yop.3 - 0 169 c.169T>A c.(169-171)Tgt>Agt p.C57S KRTAP20-1_uc011ade.2_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA. 57 cytosol|intermediate filament breast(2)|endometrium(1)|lung(7) 10 CCATAGCCACAGAGGGAGCGG 0.567 MYH9 4627 broad.mit.edu 37 22 36689392 36689392 + Missense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr22:36689392C>T uc003apg.3 - 29 4309 c.4078G>A c.(4078-4080)Gcc>Acc p.A1360T NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 1360 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TGGAGGGTGGCGATCTGCTTC 0.662 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated HES1 3280 broad.mit.edu 37 3 193855643 193855643 + Missense_Mutation SNP A A C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr3:193855643A>C uc003ftq.2 + 3 703 c.464A>C c.(463-465)tAc>tCc p.Y155S NM_005524 NP_005515 Q14469 HES1_HUMAN Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA. 155 endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) GCCATGACCTACCCCGGGCAG 0.731 PLCXD3 345557 broad.mit.edu 37 5 41313846 41313846 + Missense_Mutation SNP A A T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr5:41313846A>T uc003jmm.1 - 2 941 c.839T>A c.(838-840)gTc>gAc p.V280D NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA. 280 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CTGCGTGCGGACCCACTGCAT 0.433 NMUR2 56923 broad.mit.edu 37 5 151784217 151784217 + Missense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr5:151784217C>T uc003luv.2 - 0 624 c.458G>A c.(457-459)cGc>cAc p.R153H NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. 153 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CAGTTTGGCGCGGAACGGGTG 0.637 DOCK2 1794 broad.mit.edu 37 5 169508958 169508958 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr5:169508958G>A uc003maf.3 + 50 5480 c.5400G>A c.(5398-5400)cgG>cgA p.R1800R DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.R1292R|DOCK2_uc003mah.3_Silent_p.R356R NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1800 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACTCACACGGAAGAAGGTCA 0.527 C6orf195 154386 broad.mit.edu 37 6 2623743 2623743 + Missense_Mutation SNP G G C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr6:2623743G>C uc003mtw.2 - 2 1299 c.314C>G c.(313-315)gCc>gGc p.A105G C6orf195_uc021ykp.1_Missense_Mutation_p.A105G NM_152554 NP_689767 Q96MT4 CF195_HUMAN Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA. 105 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) GCAGGGAGTGGCCTGGTCACT 0.547 LRRC1 55227 broad.mit.edu 37 6 53784332 53784332 + Missense_Mutation SNP G G C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr6:53784332G>C uc003pcd.1 + 11 1664 c.1143G>C c.(1141-1143)aaG>aaC p.K381N NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA. 381 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CTGCCTTGAAGTTGAAGGCTC 0.398 AKD1 221264 broad.mit.edu 37 6 109993332 109993332 + Missense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr6:109993332C>T uc003ptn.2 - 3 297 c.220G>A c.(220-222)Gaa>Aaa p.E74K AKD1_uc003ptr.4_Missense_Mutation_p.E74K|AKD1_uc003pts.2_Non-coding_Transcript NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA. 74 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2) 20 ACTCCTGATTCGGTTTCAGCA 0.279 VNN1 8876 broad.mit.edu 37 6 133005540 133005540 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr6:133005540G>A uc003qdo.3 - 5 1313 c.1293C>T c.(1291-1293)ttC>ttT p.F431F VNN1_uc003qdn.3_Non-coding_Transcript NM_004666 NP_004657 O95497 VNN1_HUMAN Homo sapiens vanin 1 (VNN1), mRNA. 431 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) ACTGGGTTCCGAAAGTGCCAC 0.418 CCZ1 51622 broad.mit.edu 37 7 5959509 5959509 + Nonsense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr7:5959509C>T uc003spf.3 + 11 1108 c.1018C>T c.(1018-1020)Cga>Tga p.R340* NM_015622 NP_932765 P86790 CCZ1L_HUMAN Homo sapiens CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) (CCZ1), mRNA. 340 lysosomal membrane large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 6 GGATTTTTGCCGAAGACTGGA 0.468 EGFR 1956 broad.mit.edu 37 7 55210077 55210078 + Missense_Mutation DNP GG GG AA TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr7:55210077_55210078GG>AA uc003tqk.3 + 1 433_434 c.187_188GG>AA c.(187-189)ggg>AAg p.G63K EGFR_uc003tqh.3_Missense_Mutation_p.G63K|EGFR_uc003tqi.3_Missense_Mutation_p.G63K|EGFR_uc003tqj.3_Missense_Mutation_p.G63K|EGFR_uc022adm.1_Missense_Mutation_p.G63K|EGFR_uc010kzg.2_Missense_Mutation_p.G63K|EGFR_uc022adn.1_Missense_Mutation_p.G63K|EGFR_uc011kco.2_Missense_Mutation_p.G10K NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 63 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.G63R(2)|p.L62R(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGTGGTCCTTGGGAATTTGGAA 0.396 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) STEAP1 26872 broad.mit.edu 37 7 89794038 89794038 + Missense_Mutation SNP C C A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr7:89794038C>A uc003ujx.3 + 4 1210 c.1010C>A c.(1009-1011)tCc>tAc p.S337Y STEAP2_uc003ujy.2_5'Flank NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA. 337 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) GAGATATGTTCCCAGTTGTAG 0.299 LHFPL3 375612 broad.mit.edu 37 7 104377161 104377161 + Missense_Mutation SNP G G C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr7:104377161G>C uc003vce.3 + 1 609 c.485G>C c.(484-486)gGc>gCc p.G162A LHFPL3_uc003vcf.3_Missense_Mutation_p.G162A NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA. 148 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 TTCCCTGATGGCTGGGACTCA 0.418 DAB2IP 153090 broad.mit.edu 37 9 124538504 124538504 + Nonsense_Mutation SNP C C T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr9:124538504C>T uc004bln.3 + 13 3133 c.3064C>T c.(3064-3066)Cga>Tga p.R1022* DAB2IP_uc004blo.3_Nonsense_Mutation_p.R926*|DAB2IP_uc004blp.3_Nonsense_Mutation_p.R455* NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA. 1050 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGACAAGCTGCGAATCTCCAC 0.622 MAGEB18 286514 broad.mit.edu 37 X 26157310 26157310 + Missense_Mutation SNP A A G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chrX:26157310A>G uc022bub.1 + 0 208 c.208A>G c.(208-210)Acc>Gcc p.T70A MAGEB18_uc004dbq.2_Missense_Mutation_p.T70A NM_173699 NP_775970 Q96M61 MAGBI_HUMAN Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA. 70 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AGCCCCATCCACCACCAATGC 0.532