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 C8A 731 broad.mit.edu 37 1 57333307 57333307 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr1:57333307G>A uc001cyo.2 + 2 235 c.103G>A c.(103-105)GCA>ACA p.A35T NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 35 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 AGCTACACCCGCAGCAGTTAC 0.448 Unknown 0 broad.mit.edu 37 1 121115895 121115895 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr1:121115895G>A uc001eis.2 + 2 129 c.61G>A c.(61-63)GCG>ACG p.A21T NM_001042758 NP_001036223 SLIT-ROBO Rho GTPase activating protein 2 ACTAAAGGAGGCGGAGAAGCA 0.547 PRCC 5546 broad.mit.edu 37 1 156764463 156764463 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr1:156764463C>T uc001fqa.2 + 5 1476 c.1186C>T c.(1186-1188)CGG>TGG p.R396W PRCC_uc001fqb.2_Missense_Mutation_p.R364W NM_005973 NP_005964 Q92733 PRCC_HUMAN papillary renal cell carcinoma 396 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) kidney(25)|central_nervous_system(2) 27 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCAGTTTAAGCGGCTGCAGGG 0.478 T TFE3 papillary renal CACNA1E 777 broad.mit.edu 37 1 181689358 181689358 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr1:181689358C>T uc001gow.2 + 14 1933 c.1768C>T c.(1768-1770)CGG>TGG p.R590W CACNA1E_uc009wxs.2_Missense_Mutation_p.R497W NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 590 Cytoplasmic (Potential).|II. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GGCTTCCCTACGGAATTTGGT 0.478 PROX1 5629 broad.mit.edu 37 1 214170642 214170642 + Missense_Mutation SNP A G G TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr1:214170642A>G uc001hkh.2 + 2 1036 c.764A>G c.(763-765)GAA>GGA p.E255G PROX1_uc001hkg.1_Missense_Mutation_p.E255G NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 255 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CAGCTGCAGGAAAAGTTCTAC 0.532 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 SH2D4B 387694 broad.mit.edu 37 10 82330026 82330026 + Missense_Mutation SNP G T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr10:82330026G>T uc001kck.1 + 2 731 c.301G>T c.(301-303)GCA>TCA p.A101S SH2D4B_uc001kcl.1_Missense_Mutation_p.A52S NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 100 Glu-rich. 0 Colorectal(32;0.229) GGAGCTGATTGCAGAGAGGGC 0.602 FAM178A 55719 broad.mit.edu 37 10 102710503 102710503 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr10:102710503G>A uc001krt.3 + 17 3865 c.3323G>A c.(3322-3324)GGA>GAA p.G1108E FAM178A_uc001krs.2_Missense_Mutation_p.G1108E NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 1108 0 TTTTCTTCTGGACAACGGGTA 0.338 TRIM8 81603 broad.mit.edu 37 10 104404874 104404874 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr10:104404874G>A uc001kvz.2 + 1 623 c.500G>A c.(499-501)TGC>TAC p.C167Y NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN tripartite motif-containing 8 167 B box-type 2. cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGCCAGTACTGCTGCTACTAC 0.652 NRAP 4892 broad.mit.edu 37 10 115388695 115388695 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr10:115388695G>A uc001laj.2 - 20 2290 c.2126C>T c.(2125-2127)GCT>GTT p.A709V NRAP_uc009xyb.2_Missense_Mutation_p.A20V|NRAP_uc001lak.2_Missense_Mutation_p.A674V|NRAP_uc001lal.3_Missense_Mutation_p.A709V NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 709 Nebulin 17. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAGCTGTCCAGCCTTCTTGGC 0.547 GFRA1 2674 broad.mit.edu 37 10 117884937 117884937 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr10:117884937G>A uc001lcj.2 - 6 1263 c.565C>T c.(565-567)CGC>TGC p.R189C GFRA1_uc001lci.2_Missense_Mutation_p.R184C|GFRA1_uc009xyr.2_Missense_Mutation_p.R184C NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 189 2. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) CACTTGCGGCGGTTGCAGACA 0.607 MKI67 4288 broad.mit.edu 37 10 129905312 129905312 + Nonsense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr10:129905312G>A uc001lke.2 - 13 4987 c.4792C>T c.(4792-4794)CGA>TGA p.R1598* MKI67_uc001lkf.2_Nonsense_Mutation_p.R1238*|MKI67_uc009yav.1_Nonsense_Mutation_p.R1173*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R748* NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1598 5.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTGTGACCTCGTGTCTGGAAG 0.488 MRGPRX4 117196 broad.mit.edu 37 11 18195645 18195645 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr11:18195645G>A uc001mnv.1 + 1 1262 c.842G>A c.(841-843)CGT>CAT p.R281H NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 281 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 TTTAGGCAGCGTCAAAATAGG 0.498 OR5D18 219438 broad.mit.edu 37 11 55587380 55587380 + Missense_Mutation SNP C A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr11:55587380C>A uc010rin.1 + 1 275 c.275C>A c.(274-276)ACC>AAC p.T92N NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) AAAGACAGAACCATTTCATTT 0.418 LRRC55 219527 broad.mit.edu 37 11 56949947 56949947 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr11:56949947C>T uc001njl.1 + 1 727 c.580C>T c.(580-582)CGG>TGG p.R194W NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 164 LRR 4. integral to membrane 0 CCCCTGGCTGCGGAGGGTGCA 0.617 GLYATL2 219970 broad.mit.edu 37 11 58605817 58605817 + Missense_Mutation SNP T C C TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr11:58605817T>C uc001nnd.3 - 3 234 c.103A>G c.(103-105)AAA>GAA p.K35E GLYATL2_uc009ymq.2_Missense_Mutation_p.K35E NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 35 mitochondrion glycine N-acyltransferase activity ovary(1)|skin(1) 2 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TTTTTATCTTTTATGTTGAAA 0.423 C11orf82 220042 broad.mit.edu 37 11 82643154 82643154 + Missense_Mutation SNP T A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr11:82643154T>A uc001ozt.2 + 6 1018 c.774T>A c.(772-774)TTT>TTA p.F258L C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 258 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 ATGATGATTTTTCAGCTTCAG 0.413 DDX10 1662 broad.mit.edu 37 11 108788719 108788719 + Silent SNP T C C TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr11:108788719T>C uc001pkm.2 + 17 2489 c.2424T>C c.(2422-2424)GAT>GAC p.D808D DDX10_uc001pkl.1_Silent_p.D808D NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 808 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) AAGATTCAGATAGTGAAGATA 0.299 T NUP98 AML* FAM55D 54827 broad.mit.edu 37 11 114453240 114453240 + Silent SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr11:114453240G>A uc001ppc.2 - 3 781 c.600C>T c.(598-600)GAC>GAT p.D200D FAM55D_uc001ppd.2_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 200 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) AGATCACCCTGTCATAGCCTT 0.532 ETS1 2113 broad.mit.edu 37 11 128354828 128354828 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr11:128354828G>A uc010sbs.1 - 5 936 c.620C>T c.(619-621)TCG>TTG p.S207L ETS1_uc001qej.2_Missense_Mutation_p.S251L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S207L NM_005238 NP_005229 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene 207 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GAGAATGACCGAGGGGTAGTC 0.522 GDF3 9573 broad.mit.edu 37 12 7848193 7848193 + Silent SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr12:7848193G>A uc001qte.2 - 1 168 c.132C>T c.(130-132)TTC>TTT p.F44F NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 44 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 GCACAGGTTGGAACTTCTGGG 0.498 GLI1 2735 broad.mit.edu 37 12 57861990 57861990 + Missense_Mutation SNP G C C TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr12:57861990G>C uc001snx.2 + 10 1369 c.1291G>C c.(1291-1293)GTG>CTG p.V431L GLI1_uc009zpq.2_Missense_Mutation_p.V303L NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 431 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CAGACTGACTGTGCCAGAGGG 0.602 BEST3 144453 broad.mit.edu 37 12 70091534 70091534 + Frame_Shift_Del DEL A - - TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr12:70091534delA uc001svg.2 - 2 272 c.45delT c.(43-45)TTTfs p.F15fs BEST3_uc001svd.1_Frame_Shift_Del_p.F15fs|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 15 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TATGAAATCCAAAAAAAGTTG 0.353 LGR5 8549 broad.mit.edu 37 12 71974190 71974190 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr12:71974190G>A uc001swl.2 + 16 1587 c.1539G>A c.(1537-1539)ATG>ATA p.M513I LGR5_uc001swm.2_Missense_Mutation_p.M489I|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 513 Extracellular (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 ATGCTGGAATGTTTCAGGCTC 0.388 C12orf51 283450 broad.mit.edu 37 12 112622897 112622897 + Silent SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr12:112622897C>T uc009zwc.2 - 54 8625 c.8607G>A c.(8605-8607)TCG>TCA p.S2869S NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 AGGAGGAGGACGAGTCACTGA 0.592 TUBA3C 7278 broad.mit.edu 37 13 19752399 19752399 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr13:19752399C>T uc009zzj.2 - 3 411 c.362G>A c.(361-363)CGG>CAG p.R121Q NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 121 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TTTGCGGATCCGGTCCAGGAC 0.522 FLT1 2321 broad.mit.edu 37 13 28919630 28919630 + Silent SNP C T T rs142392658 TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr13:28919630C>T uc001usb.3 - 16 2592 c.2307G>A c.(2305-2307)GCG>GCA p.A769A FLT1_uc001usa.3_5'UTR NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 769 Helical; (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.A769S(1) lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AGAAGAGAGTCGCAGCCACAC 0.398 TEP1 7011 broad.mit.edu 37 14 20871545 20871545 + Silent SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr14:20871545C>T uc001vxe.2 - 7 1297 c.1257G>A c.(1255-1257)GAG>GAA p.E419E TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.E311E NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 419 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCTTTCTCTGCTCTTCTCTGA 0.408 OSGEP 55644 broad.mit.edu 37 14 20917163 20917163 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr14:20917163C>T uc001vxf.2 - 5 873 c.517G>A c.(517-519)GAC>AAC p.D173N NM_017807 NP_060277 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 173 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) GGACTTGGGTCGTTAGAAATC 0.448 PAPOLA 10914 broad.mit.edu 37 14 97022277 97022277 + Missense_Mutation SNP C G G TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr14:97022277C>G uc001yfq.2 + 18 1968 c.1758C>G c.(1756-1758)AGC>AGG p.S586R PAPOLA_uc001yfr.2_Missense_Mutation_p.S585R|PAPOLA_uc010twv.1_Missense_Mutation_p.S586R|PAPOLA_uc010avp.2_Missense_Mutation_p.S336R NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 586 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) CCAGTGAAAGCTCAGGGGGTA 0.398 AHNAK2 113146 broad.mit.edu 37 14 105417016 105417016 + Missense_Mutation SNP A T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr14:105417016A>T uc010axc.1 - 7 4892 c.4772T>A c.(4771-4773)CTC>CAC p.L1591H AHNAK2_uc001ypx.2_Missense_Mutation_p.L1491H NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1591 nucleus ovary(1) 1 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) GGGCCCCTTGAGGTCCACTTT 0.592 TJP1 7082 broad.mit.edu 37 15 30012191 30012192 + Frame_Shift_Ins INS - T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr15:30012191_30012192insT uc001zcr.2 - 20 3267_3268 c.2792_2793insA c.(2791-2793)TACfs p.Y931fs TJP1_uc010azl.2_Frame_Shift_Ins_p.Y919fs|TJP1_uc001zcq.2_Intron|TJP1_uc001zcs.2_Intron NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 931 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CAGGCGAAAGGTAAGGGACTGG 0.386 NEDD4L 23327 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC - - TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr18:55992284_55992286delTCC uc002lgy.2 + 9 844_846 c.570_572delTCC c.(568-573)CTTCCT>CTT p.P194del NEDD4L_uc002lgz.2_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.2_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally 194 WW 1. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity lung(4) 4 AAGAGGAACTTCCTCCTCCTCCT 0.498 DAPK3 1613 broad.mit.edu 37 19 3959627 3959627 + Silent SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr19:3959627C>T uc002lzc.1 - 8 930 c.837G>A c.(835-837)CGG>CGA p.R279R DAPK3_uc002lzb.1_Silent_p.R16R|DAPK3_uc002lzd.1_Silent_p.R279R NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 279 apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CGTTCCGCCGCCGGATCGCCT 0.687 UBXN6 80700 broad.mit.edu 37 19 4454085 4454085 + Frame_Shift_Del DEL T - - TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr19:4454085delT uc002man.1 - 2 185 c.89delA c.(88-90)AAGfs p.K30fs UBXN6_uc010dty.1_5'UTR|UBXN6_uc002mam.1_5'UTR NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 30 microtubule organizing center|nucleus protein binding 0 TTTGTGGGCCTTTTCCCTGGG 0.667 KHSRP 8570 broad.mit.edu 37 19 6416419 6416419 + Splice_Site SNP C A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr19:6416419C>A uc002mer.3 - 15 1599 c.1489_splice c.e15-1 p.G497_splice NM_003685 NP_003676 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding skin(1) 1 AGAGAGGACCCTAGAAGGAAG 0.637 TSPAN16 26526 broad.mit.edu 37 19 11417292 11417292 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr19:11417292G>A uc002mqv.1 + 5 613 c.463G>A c.(463-465)GGG>AGG p.G155R TSPAN16_uc002mqu.1_RNA|uc002mqw.1_Intron NM_012466 NP_036598 Q9UKR8 TSN16_HUMAN transmembrane 4 superfamily member 16 155 Cytoplasmic (Potential). integral to membrane skin(1) 1 AAAGTGCTGTGGGGTGAATAA 0.438 NOTCH3 4854 broad.mit.edu 37 19 15272328 15272328 + Silent SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr19:15272328G>A uc002nan.2 - 33 6187 c.6111C>T c.(6109-6111)CAC>CAT p.H2037H NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 2037 Cytoplasmic (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GCCCCAGGCCGTGGGGACCGG 0.682 TSKS 60385 broad.mit.edu 37 19 50251361 50251361 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr19:50251361C>T uc002ppm.2 - 4 571 c.560G>A c.(559-561)GGG>GAG p.G187E NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 187 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) AATGCAGTACCCCTCCAACTC 0.547 HEATR5B 54497 broad.mit.edu 37 2 37215846 37215846 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr2:37215846C>T uc002rpp.1 - 35 5950 c.5854G>A c.(5854-5856)GTT>ATT p.V1952I HEATR5B_uc002rpo.1_Missense_Mutation_p.V264I|HEATR5B_uc010ezy.1_Missense_Mutation_p.V447I NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1952 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) CCTTCTTGAACCGCTAAAAGC 0.348 RGPD4 285190 broad.mit.edu 37 2 108443529 108443529 + Silent SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr2:108443529G>A uc010ywk.1 + 1 142 c.60G>A c.(58-60)CCG>CCA p.P20P LOC729121_uc010ywj.1_5'Flank|LOC729121_uc002tdt.2_5'Flank NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 20 intracellular transport binding skin(2) 2 GCTCCGCCCCGTCGCCTCGAA 0.711 IL1RN 3557 broad.mit.edu 37 2 113890404 113890404 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr2:113890404G>A uc002tjb.2 + 4 554 c.490G>A c.(490-492)GAA>AAA p.E164K IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Missense_Mutation_p.E130K|IL1RN_uc002tiz.2_Missense_Mutation_p.E167K|IL1RN_uc002tja.2_Missense_Mutation_p.E146K NM_173842 NP_776214 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist isoform 1 164 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity skin(2) 2 Anakinra(DB00026) TATGCCTGACGAAGGCGTCAT 0.592 Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of ALPPL2 251 broad.mit.edu 37 2 233274348 233274348 + Silent SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr2:233274348C>T uc002vss.3 + 11 1418 c.1365C>T c.(1363-1365)GAC>GAT p.D455D NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 455 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 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) Amifostine(DB01143)|Levamisole(DB00848) CAGGCGAGGACGTGGCGGTGT 0.662 ASXL1 171023 broad.mit.edu 37 20 31022345 31022345 + Silent SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr20:31022345C>T uc002wxs.2 + 12 2256 c.1830C>T c.(1828-1830)GGC>GGT p.G610G ASXL1_uc010geb.2_Silent_p.G501G NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 610 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1)|p.G610G(1) haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GTTGGACTGGCGCCAGGACCC 0.632 F|N|Mis MDS|CMML C20orf152 140894 broad.mit.edu 37 20 34560629 34560629 + Missense_Mutation SNP C T T rs150690141 byFrequency TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr20:34560629C>T uc002xes.1 + 2 286 c.130C>T c.(130-132)CGG>TGG p.R44W C20orf152_uc002xer.1_Missense_Mutation_p.R44W|C20orf152_uc010gfp.1_RNA Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 44 0 Breast(12;0.00631) CAGGGGATTCCGGGAATATCA 0.443 TIAM1 7074 broad.mit.edu 37 21 32638854 32638854 + Silent SNP T C C TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr21:32638854T>C uc002yow.1 - 5 907 c.435A>G c.(433-435)GGA>GGG p.G145G TIAM1_uc011adk.1_Silent_p.G145G|TIAM1_uc011adl.1_Silent_p.G145G|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 145 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GCCTCCTGCCTCCCTCAGCCA 0.547 CHEK2 11200 broad.mit.edu 37 22 29091840 29091841 + Missense_Mutation DNP TG CA CA rs142470496 byFrequency TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr22:29091840_29091841TG>CA uc003adu.1 - 11 1188_1189 c.1116_1117CA>TG c.(1114-1119)TCCAAG>TCTGAG p.K373E CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 373 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(2)|p.S372S(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCCAAAATCTTGGAGTGCCCAA 0.416 F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer CSN3 1448 broad.mit.edu 37 4 71114964 71114964 + Missense_Mutation SNP C A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr4:71114964C>A uc003hfe.3 + 4 395 c.337C>A c.(337-339)CTG>ATG p.L113M NM_005212 NP_005203 P07498 CASK_HUMAN casein kappa precursor 113 extracellular region protein binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TCGCCCAAACCTGCATCCATC 0.468 ANKRD17 26057 broad.mit.edu 37 4 73984505 73984505 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr4:73984505C>T uc003hgp.2 - 22 4205 c.4088G>A c.(4087-4089)GGT>GAT p.G1363D ANKRD17_uc003hgo.2_Missense_Mutation_p.G1250D|ANKRD17_uc003hgq.2_Missense_Mutation_p.G1112D|ANKRD17_uc003hgr.2_Missense_Mutation_p.G1362D|ANKRD17_uc011cbd.1_Missense_Mutation_p.G928D NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1363 ANK 24. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAGGTGTCCACCATTTGCTGC 0.443 AFF1 4299 broad.mit.edu 37 4 88047292 88047292 + Missense_Mutation SNP T C C TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr4:88047292T>C uc003hqj.3 + 13 3001 c.2594T>C c.(2593-2595)CTC>CCC p.L865P AFF1_uc011ccz.1_Missense_Mutation_p.L872P|AFF1_uc003hqk.3_Missense_Mutation_p.L865P|AFF1_uc011cda.1_Missense_Mutation_p.L503P NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 865 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AAGGAAATGCTCCCCCCGCCA 0.577 ADH1B 125 broad.mit.edu 37 4 100239237 100239237 + Missense_Mutation SNP C A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr4:100239237C>A uc003hus.3 - 3 309 c.225G>T c.(223-225)GAG>GAT p.E75D ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.E35D|ADH1B_uc011ceh.1_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E35D NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 75 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CTCCAACACTCTCCACGATGC 0.537 ADH1C 126 broad.mit.edu 37 4 100268197 100268197 + Missense_Mutation SNP T A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr4:100268197T>A uc003huu.2 - 3 310 c.225A>T c.(223-225)GAA>GAT p.E75D NM_000669 NP_000660 P00326 ADH1G_HUMAN class I alcohol dehydrogenase, gamma subunit 75 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CTCAAACACTTTCCACGATGC 0.502 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of MMAA 166785 broad.mit.edu 37 4 146576356 146576356 + Nonsense_Mutation SNP A T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr4:146576356A>T uc003ikh.3 + 7 1112 c.1027A>T c.(1027-1029)AAA>TAA p.K343* MMAA_uc010iow.2_RNA NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN methylmalonic aciduria type A precursor 343 mitochondrion GTP binding|nucleoside-triphosphatase activity ovary(1) 1 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGATAAAATGAAAGATTTCCA 0.428 CCDC110 256309 broad.mit.edu 37 4 186382220 186382220 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr4:186382220G>A uc003ixu.3 - 5 407 c.331C>T c.(331-333)CGC>TGC p.R111C CCDC110_uc003ixv.3_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 111 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTTTCAATGCGCGTGCCAAAC 0.338 FBN2 2201 broad.mit.edu 37 5 127671244 127671244 + Silent SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr5:127671244G>A uc003kuu.2 - 29 4189 c.3750C>T c.(3748-3750)AAC>AAT p.N1250N FBN2_uc003kuv.2_Silent_p.N1217N NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1250 EGF-like 19; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CACAGCCTCCGTTCATTATCA 0.438 PCDHA3 56145 broad.mit.edu 37 5 140181057 140181057 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr5:140181057G>A uc003lhf.2 + 1 275 c.275G>A c.(274-276)CGC>CAC p.R92H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R92H NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 92 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGATAGACCGCGAGGAACTG 0.587 N4BP3 23138 broad.mit.edu 37 5 177547367 177547367 + Silent SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr5:177547367C>T uc003mik.1 + 3 766 c.519C>T c.(517-519)CAC>CAT p.H173H N4BP3_uc003mil.1_5'Flank NM_015111 NP_055926 O15049 N4BP3_HUMAN Nedd4 binding protein 3 173 cytoplasmic vesicle membrane 0 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCTGCTGCACGCCCTCAGCC 0.711 OR2Y1 134083 broad.mit.edu 37 5 180166656 180166656 + Missense_Mutation SNP T C C TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr5:180166656T>C uc003mmf.1 - 1 403 c.403A>G c.(403-405)ATC>GTC p.I135V NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGTGCATGATGGCCATGTAG 0.587 PKHD1 5314 broad.mit.edu 37 6 51918901 51918901 + Silent SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr6:51918901G>A uc003pah.1 - 20 2175 c.1899C>T c.(1897-1899)ATC>ATT p.I633I PKHD1_uc003pai.2_Silent_p.I633I NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 633 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TTTGAAAGCCGATTGTGAAGG 0.478 NMBR 4829 broad.mit.edu 37 6 142397171 142397171 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr6:142397171G>A uc003qiu.2 - 3 928 c.787C>T c.(787-789)CGC>TGC p.R263C NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor 263 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TTAGCCAGGCGTTTCCGTGTT 0.388 PPP1R14C 81706 broad.mit.edu 37 6 150464589 150464589 + Silent SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr6:150464589G>A uc003qnt.2 + 1 402 c.261G>A c.(259-261)CTG>CTA p.L87L NM_030949 NP_112211 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) 87 regulation of phosphorylation cytoplasm|membrane 0 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) GGCTGGTGCTGGAGGAATGGA 0.637 PRPS1L1 221823 broad.mit.edu 37 7 18067222 18067222 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr7:18067222C>T uc003stz.2 - 1 265 c.184G>A c.(184-186)GAA>AAA p.E62K NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 62 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) TCGTTGATTTCGCCACAACCA 0.473 MLXIPL 51085 broad.mit.edu 37 7 73011080 73011080 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr7:73011080G>A uc003tyn.1 - 11 1759 c.1711C>T c.(1711-1713)CCG>TCG p.P571S MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P571S|MLXIPL_uc003tym.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.P477S|MLXIPL_uc003tyq.1_Missense_Mutation_p.P338S NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 571 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) GCCGGGGTCGGGGGAAGGAAT 0.701 DYNC1I1 1780 broad.mit.edu 37 7 95616403 95616403 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr7:95616403G>A uc003uoc.3 + 9 1107 c.830G>A c.(829-831)CGT>CAT p.R277H DYNC1I1_uc003uod.3_Missense_Mutation_p.R260H|DYNC1I1_uc003uob.2_Missense_Mutation_p.R240H|DYNC1I1_uc003uoe.3_Missense_Mutation_p.R257H|DYNC1I1_uc010lfl.2_Missense_Mutation_p.R266H NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 277 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TCTTTCAATCGTCAGTTCTAT 0.443 CYP3A5 1577 broad.mit.edu 37 7 99332692 99332692 + Translation_Start_Site SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr7:99332692C>T uc003urs.2 - 1 130 c.-76G>A c.(-78--74)CCGTG>CCATG ZNF498_uc003urn.2_Intron|CYP3A5_uc010lgg.2_Missense_Mutation_p.V9M|CYP3A7_uc003uru.2_Missense_Mutation_p.V9M P20815 CP3A5_HUMAN SubName: Full=Cytochrome P450; Flags: Fragment; alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) CAGGTTTCCACGGCCAAGTTT 0.498 MLL5 55904 broad.mit.edu 37 7 104681416 104681416 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr7:104681416C>T uc003vcm.2 + 3 551 c.17C>T c.(16-18)CCA>CTA p.P6L MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6L|MLL5_uc003vcl.2_Missense_Mutation_p.P6L|MLL5_uc010ljc.2_Missense_Mutation_p.P6L NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 6 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 ATAGTGATCCCATTGGGGGTT 0.428 PRKAR2B 5577 broad.mit.edu 37 7 106786905 106786905 + Missense_Mutation SNP T G G TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr7:106786905T>G uc003vdx.2 + 6 915 c.740T>G c.(739-741)TTG>TGG p.L247W NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 247 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 CTGTGGGGTTTGGTGAGTAAA 0.398 DNAJB5 25822 broad.mit.edu 37 9 34996743 34996743 + Silent SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr9:34996743C>T uc003zvt.2 + 3 831 c.693C>T c.(691-693)GGC>GGT p.G231G DNAJB5_uc003zvs.2_Silent_p.G265G|DNAJB5_uc011los.1_Silent_p.G303G NM_012266 NP_036398 O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 231 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding 0 LUSC - Lung squamous cell carcinoma(32;0.00575) CCAAAGAAGGCGACGCCACAC 0.562 OR13C5 138799 broad.mit.edu 37 9 107360795 107360795 + Missense_Mutation SNP G T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr9:107360795G>T uc011lvp.1 - 1 900 c.900C>A c.(898-900)AAC>AAA p.N300K NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 TCACATCCTTGTTTCTAAGAC 0.338 C9orf140 89958 broad.mit.edu 37 9 139959160 139959160 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chr9:139959160C>T uc011men.1 - 6 1252 c.1136G>A c.(1135-1137)CGC>CAC p.R379H NM_178448 NP_848543 Q86UD0 CI140_HUMAN tumor specificity and mitosis phase-dependent 379 Potential. cytoplasm|nucleus skin(1) 1 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;3.02e-05)|Epithelial(140;0.000499) GCTCAGGGCGCGGGCCTCAAA 0.647 OREG0019628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MAP3K15 389840 broad.mit.edu 37 X 19391804 19391804 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chrX:19391804C>T uc004czk.1 - 22 2845 c.1208G>A c.(1207-1209)CGC>CAC p.R403H MAP3K15_uc004czj.1_Missense_Mutation_p.R363H|MAP3K15_uc004czi.1_5'Flank NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 928 ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) GACGACACCGCGGGGACCTTC 0.677 ZNF41 7592 broad.mit.edu 37 X 47307679 47307679 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chrX:47307679C>T uc004dhs.3 - 4 1683 c.1616G>A c.(1615-1617)TGT>TAT p.C539Y ZNF41_uc004dhu.3_Missense_Mutation_p.C531Y|ZNF41_uc004dht.3_Missense_Mutation_p.C411Y|ZNF41_uc004dhv.3_Missense_Mutation_p.C507Y|ZNF41_uc004dhw.3_Missense_Mutation_p.C499Y|ZNF41_uc004dhy.3_Missense_Mutation_p.C497Y|ZNF41_uc004dhx.3_Missense_Mutation_p.C497Y|ZNF41_uc011mlm.1_Missense_Mutation_p.C411Y NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 539 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) ACATTCTGTACATATATAGGG 0.428 GSPT2 23708 broad.mit.edu 37 X 51487380 51487380 + Missense_Mutation SNP G A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chrX:51487380G>A uc004dpl.2 + 1 884 c.658G>A c.(658-660)GGA>AGA p.G220R NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 220 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) GTCAACCATCGGAGGACAGAT 0.398 ODZ1 10178 broad.mit.edu 37 X 123518365 123518365 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chrX:123518365C>T uc004euj.2 - 29 6459 c.6395G>A c.(6394-6396)CGC>CAC p.R2132H ODZ1_uc011muj.1_Missense_Mutation_p.R2138H|ODZ1_uc010nqy.2_Missense_Mutation_p.R2139H NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2132 Extracellular (Potential).|YD 16. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TATTACCATGCGGCCCACATT 0.393 ACTRT1 139741 broad.mit.edu 37 X 127185914 127185914 + Missense_Mutation SNP T G G TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chrX:127185914T>G uc004eum.2 - 1 469 c.272A>C c.(271-273)CAT>CCT p.H91P NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 91 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 CTCAAAGAGATGTTTCCAGAG 0.493 ARHGEF6 9459 broad.mit.edu 37 X 135754253 135754253 + Missense_Mutation SNP T A A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chrX:135754253T>A uc004fab.2 - 20 2523 c.2061A>T c.(2059-2061)CAA>CAT p.Q687H ARHGEF6_uc011mwd.1_Missense_Mutation_p.Q560H|ARHGEF6_uc011mwe.1_Missense_Mutation_p.Q533H NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 687 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) GGAGTAGGACTTGTGGAATGG 0.458 PNCK 139728 broad.mit.edu 37 X 152936012 152936012 + Missense_Mutation SNP C T T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7ec7f174-13f6-44b1-83e3-6f35a244f00e 07ac31bd-1aa0-4e13-8705-16f627eb7c7a g.chrX:152936012C>T uc011myu.1 - 11 1367 c.1181G>A c.(1180-1182)CGG>CAG p.R394Q PNCK_uc011myt.1_Missense_Mutation_p.R328Q|PNCK_uc004fia.2_Missense_Mutation_p.R346Q|PNCK_uc004fhz.3_Missense_Mutation_p.R209Q NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 311 Calmodulin-binding (By similarity). cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCAGCTTCCGGATGTGGCG 0.687