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 MPL 4352 broad.mit.edu 37 1 43804269 43804269 + Missense_Mutation SNP G G A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr1:43804269G>A uc001ciw.3 + 2 314 c.269G>A c.(268-270)cGa>cAa p.R90Q MPL_uc001civ.3_Missense_Mutation_p.R90Q|MPL_uc009vwr.3_Missense_Mutation_p.R83Q NM_005373 NP_005364 P40238 TPOR_HUMAN Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA. 90 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTTGGAACCCGATACGTGTGC 0.572 Mis MPD MPD congenital amegakaryocytic thrombocytopenia RUSC1-AS1 284618 broad.mit.edu 37 1 155291139 155291139 + Silent SNP G G A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr1:155291139G>A uc001fki.3 - 1 418 c.141C>T c.(139-141)taC>taT p.Y47Y RUSC1-AS1_uc001fkh.1_Non-coding_Transcript|RUSC1_uc001fkk.2_Intron|RUSC1_uc001fkj.2_Intron|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank NM_001039517 NP_001034606 Q66K80 RUAS1_HUMAN Homo sapiens RUSC1 antisense RNA 1 (non-protein coding) (RUSC1-AS1), mRNA. 47 TCCTCTGGGAGTAAGGGGTAG 0.647 SPTA1 6708 broad.mit.edu 37 1 158617395 158617395 + Missense_Mutation SNP C C T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr1:158617395C>T uc001fst.1 - 26 4029 c.3830G>A c.(3829-3831)cGt>cAt p.R1277H NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1277 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R1277L(4)|p.R1277H(2)|p.R1277C(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATCCTTTGTACGCCCCTGCAG 0.557 CEP350 9857 broad.mit.edu 37 1 179989186 179989186 + Silent SNP C C G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr1:179989186C>G uc001gnt.3 + 11 2660 c.2277C>G c.(2275-2277)ctC>ctG p.L759L CEP350_uc009wxl.2_Silent_p.L758L|CEP350_uc001gnu.3_Silent_p.L593L NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 759 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GAAGTTTACTCTCCCATCTCT 0.403 OR5F1 338674 broad.mit.edu 37 11 55761884 55761884 + Missense_Mutation SNP T T G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr11:55761884T>G uc010riv.2 - 0 218 c.218A>C c.(217-219)aAc>aCc p.N73T NM_003697 NP_003688 O95221 OR5F1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GGTAGTTGAGTTACAAACGTC 0.443 RFX4 5992 broad.mit.edu 37 12 107048021 107048021 + Nonsense_Mutation SNP T T G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr12:107048021T>G uc001tlt.3 + 3 374 c.234T>G c.(232-234)taT>taG p.Y78* LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Nonsense_Mutation_p.Y69*|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Nonsense_Mutation_p.Y78* NM_001206691 NP_001193620 Q33E94 RFX4_HUMAN Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA. 69 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 AGGAGAACTATGAGATTGCAG 0.488 NEIL1 79661 broad.mit.edu 37 15 75641495 75641495 + Silent SNP C C T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr15:75641495C>T uc002bae.3 + 1 660 c.507C>T c.(505-507)ggC>ggT p.G169G NEIL1_uc002bad.3_Silent_p.G83G NM_024608 NP_078884 Q96FI4 NEIL1_HUMAN Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA. 83 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 GCATGTCCGGCTCTTTTCAGC 0.687 Base excision repair (BER), DNA glycosylases CAMKK1 84254 broad.mit.edu 37 17 3779538 3779538 + Silent SNP G G A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:3779538G>A uc002fwv.3 - 10 1237 c.1089C>T c.(1087-1089)tcC>tcT p.S363S CAMKK1_uc002fwt.3_Silent_p.S325S|CAMKK1_uc002fwu.3_Silent_p.S325S NM_172207 NP_757344 Q8N5S9 KKCC1_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA. 325 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) AGCTCTGGCCGGAATCAGAAA 0.622 NF1 4763 broad.mit.edu 37 17 29560133 29560133 + Frame_Shift_Del DEL C C - TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:29560133delC uc002hgg.3 + 26 3993 c.3610delC c.(3610-3612)cggfs p.R1204fs NF1_uc002hgh.3_Frame_Shift_Del_p.R1204fs|NF1_uc010csn.2_Frame_Shift_Del_p.R1064fs|NF1_uc002hgi.1_Frame_Shift_Del_p.R237fs NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1204 R -> G (in NF1).|R -> W (in NF1). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.R1204W(2)|p.G1190fs*1(1)|p.D1203H(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATTGGCTGATCGGTTTGAGAG 0.453 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) NF1 4763 broad.mit.edu 37 17 29661945 29661945 + Nonsense_Mutation SNP C C T rs137854552 TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:29661945C>T uc002hgg.3 + 39 6285 c.5902C>T c.(5902-5904)Cga>Tga p.R1968* NF1_uc002hgh.3_Nonsense_Mutation_p.R1947*|NF1_uc010cso.3_Nonsense_Mutation_p.R156*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1968 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.R1968*(6)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGATGCCAAACGACAAAGAGT 0.368 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:39274291T>C uc002hvz.3 - 0 316 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(8) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662 ETV4 2118 broad.mit.edu 37 17 41610118 41610118 + Silent SNP A A C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:41610118A>C uc002idw.3 - 7 863 c.735T>G c.(733-735)ggT>ggG p.G245G ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Silent_p.G191G|ETV4_uc010czh.3_Silent_p.G244G|ETV4_uc010wii.2_Silent_p.G206G|ETV4_uc002idx.3_Silent_p.G245G|ETV4_uc010wij.2_Silent_p.G206G NM_001986 NP_001977 P43268 ETV4_HUMAN Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA. 245 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) CATTGACCCCACCCTGGTCCA 0.617 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" HOXB8 3218 broad.mit.edu 37 17 46692020 46692020 + Missense_Mutation SNP C C G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:46692020C>G uc002inw.3 - 0 282 c.47G>C c.(46-48)gGg>gCg p.G16A NM_024016 NP_076921 P17481 HXB8_HUMAN Homo sapiens homeobox B8 (HOXB8), mRNA. 16 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 CAGGGACTCCCCGGTTTTGTA 0.587 MUC16 94025 broad.mit.edu 37 19 9062384 9062384 + Silent SNP G G T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr19:9062384G>T uc002mkp.3 - 2 25266 c.25062C>A c.(25060-25062)acC>acA p.T8354T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8356 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCTCACGTTGGTCACTGCTG 0.488 ZNF653 115950 broad.mit.edu 37 19 11594572 11594572 + Silent SNP G G A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr19:11594572G>A uc002mrz.2 - 8 1910 c.1773C>T c.(1771-1773)tgC>tgT p.C591C ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank NM_138783 NP_620138 Q96CK0 ZN653_HUMAN Homo sapiens zinc finger protein 653 (ZNF653), mRNA. 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 AGCGCTTCCCGCAGCGATCGC 0.612 DDX11L2 84771 broad.mit.edu 37 2 114357720 114357720 + Silent SNP A A G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr2:114357720A>G uc010yxx.1 - 2 546 c.219T>C c.(217-219)ccT>ccC p.P73P Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA. CAGCTTGTCCAGGACAGGGTG 0.567 FAM83D 81610 broad.mit.edu 37 20 37580810 37580811 + Frame_Shift_Ins INS - - T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr20:37580810_37580811insT uc002xjg.3 + 3 1536_1537 c.1495_1496insT c.(1495-1497)gtafs p.V499fs NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA. 469 cell division|mitosis cytoplasm|spindle pole p.V499I(2) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) AAAAATGTCTGTATCGAGATCT 0.485 PCK1 5105 broad.mit.edu 37 20 56140691 56140691 + Missense_Mutation SNP A A C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr20:56140691A>C uc002xyn.4 + 9 1863 c.1700A>C c.(1699-1701)aAa>aCa p.K567T PCK1_uc010zzm.2_Missense_Mutation_p.K250T NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 567 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CTGAACCTGAAAGGCCTGGGG 0.532 HUNK 30811 broad.mit.edu 37 21 33331245 33331245 + Missense_Mutation SNP C C A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr21:33331245C>A uc002yph.3 + 4 1197 c.837C>A c.(835-837)gaC>gaA p.D279E NM_014586 NP_055401 P57058 HUNK_HUMAN Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA. 279 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 AGATGGTAGACAAAGAAATGA 0.537 CAMKV 79012 broad.mit.edu 37 3 49896857 49896857 + Missense_Mutation SNP G G T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr3:49896857G>T uc003cxt.1 - 10 1593 c.1400C>A c.(1399-1401)cCg>cAg p.P467Q TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P392Q|CAMKV_uc003cxv.1_Missense_Mutation_p.P439Q|CAMKV_uc003cxw.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxx.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxu.2_Missense_Mutation_p.P436Q|CAMKV_uc011bcz.1_Missense_Mutation_p.P399Q|CAMKV_uc011bda.1_Missense_Mutation_p.P393Q NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA. 467 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGTGCTGTCCGGCTGGGCCAT 0.652 C3orf26 84319 broad.mit.edu 37 3 99891168 99891168 + Silent SNP G G A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr3:99891168G>A uc003dtl.3 + 7 734 c.588G>A c.(586-588)gcG>gcA p.A196A C3orf26_uc021xbt.1_Silent_p.A178A NM_032359 NP_115735 Q9BQ75 CC026_HUMAN Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA. 196 ATP binding|ATP-dependent helicase activity|nucleic acid binding large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2) 14 AGGTCCAGGCGCAGGTAAAGT 0.413 FXR1 8087 broad.mit.edu 37 3 180651171 180651172 + Frame_Shift_Del DEL AT AT - TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr3:180651171_180651172delAT uc003fkq.3 + 1 341_342 c.101_102delAT c.(100-102)aatfs p.N34fs FXR1_uc003fkp.3_5'UTR|FXR1_uc003fkr.3_Frame_Shift_Del_p.N34fs|FXR1_uc011bqj.2_Intron|FXR1_uc003fks.3_5'UTR|FXR1_uc011bqk.2_Intron|FXR1_uc011bql.2_Frame_Shift_Del_p.N21fs NM_005087 NP_001013457 P51114 FXR1_HUMAN Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA. 34 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GTTTTTGAAAATAAGTAAGTTA 0.332 RICTOR 253260 broad.mit.edu 37 5 38950386 38950386 + Missense_Mutation SNP A A C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:38950386A>C uc003jlo.2 - 30 3586 c.3564T>G c.(3562-3564)aaT>aaG p.N1188K RICTOR_uc003jlp.2_Missense_Mutation_p.N1188K|RICTOR_uc010ivf.2_Missense_Mutation_p.N903K NM_152756 NP_689969 Q6R327 RICTR_HUMAN Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA. 1188 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CTGTACCAAAATTCTTGGTGA 0.358 SV2C 22987 broad.mit.edu 37 5 75427791 75427791 + Silent SNP C C T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:75427791C>T uc003kei.1 + 1 350 c.216C>T c.(214-216)gaC>gaT p.D72D NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 72 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.D72D(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CCAACGATGACGAAGGCTCAA 0.498 ARRDC3 57561 broad.mit.edu 37 5 90671379 90671379 + Missense_Mutation SNP A A C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:90671379A>C uc003kjz.2 - 3 802 c.562T>G c.(562-564)Tca>Gca p.S188A NM_020801 NP_065852 Q96B67 ARRD3_HUMAN Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA. 188 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) ATTGGGCCTGAGGTACAGAAC 0.398 CDC23 8697 broad.mit.edu 37 5 137524677 137524677 + Missense_Mutation SNP A A G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:137524677A>G uc003lcl.3 - 15 1815 c.1784T>C c.(1783-1785)gTc>gCc p.V595A NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA. 595 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTATGGCGTGACAGAAGACAA 0.493 JAKMIP2 9832 broad.mit.edu 37 5 147012259 147012259 + Missense_Mutation SNP C C T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:147012259C>T uc010jgo.1 - 11 1908 c.1760G>A c.(1759-1761)cGa>cAa p.R587Q JAKMIP2_uc003loq.1_Missense_Mutation_p.R587Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R545Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R566Q|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 587 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTAGGTTTCGAAACTCCAG 0.388 COL12A1 1303 broad.mit.edu 37 6 75866132 75866132 + Missense_Mutation SNP G G A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr6:75866132G>A uc021zbv.1 - 13 3126 c.3091C>T c.(3091-3093)Cgc>Tgc p.R1031C COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.R1031C|COL12A1_uc003pht.3_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 1031 Fibronectin type-III 7. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCATGAGGGCGATAGACAACA 0.473 CASP8AP2 9994 broad.mit.edu 37 6 90578080 90578080 + Missense_Mutation SNP G G A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr6:90578080G>A uc003pnr.3 + 7 5267 c.5071G>A c.(5071-5073)Gtc>Atc p.V1691I CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.V1691I|CASP8AP2_uc011dzz.2_Missense_Mutation_p.V1691I NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA. 1691 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GAAAGATCCAGTCACTGAAAC 0.388 PEX1 5189 broad.mit.edu 37 7 92147239 92147239 + Missense_Mutation SNP T T C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr7:92147239T>C uc003uly.3 - 4 686 c.590A>G c.(589-591)aAa>aGa p.K197R PEX1_uc011khr.2_5'UTR|PEX1_uc010ley.3_Missense_Mutation_p.K197R|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript NM_000466 NP_000457 O43933 PEX1_HUMAN Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA. 197 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) ATGAAGTTTTTTATATTCAGC 0.388 HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr9:35906348_35906350delCTG uc003zyr.1 + 0 160_162 c.64_66delCTG c.(64-66)ctgdel p.L28del NM_001039792 NP_001034881 Q6UXD1 HRCT1_HUMAN Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA. 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 KIF12 113220 broad.mit.edu 37 9 116858751 116858751 + Silent SNP G G A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr9:116858751G>A uc004bif.3 - 4 478 c.240C>T c.(238-240)agC>agT p.S80S KIF12_uc004big.3_Non-coding_Transcript NM_138424 NP_612433 Q96FN5 KIF12_HUMAN Homo sapiens kinesin family member 12 (KIF12), mRNA. 213 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 TCCTTCGACGGCTGAGAcctg 0.547