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 TNFRSF8 943 broad.mit.edu 37 1 12172043 12172043 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:12172043C>T uc001atq.2 + 7 987 c.765C>T c.(763-765)CGC>CGT p.R255R TNFRSF8_uc010obc.1_Silent_p.R144R NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 255 TNFR-Cys 5.|Extracellular (Potential). cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AGGCCGGCCGCTGCACGGCCT 0.587 LOC440563 440563 broad.mit.edu 37 1 13183578 13183578 + Nonsense_Mutation SNP G A A rs115194400 by1000genomes TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:13183578G>A uc010obg.1 - 1 390 c.295C>T c.(295-297)CGA>TGA p.R99* NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 99 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 GCTGCGGATCGTTTCACACCT 0.502 EPHA10 284656 broad.mit.edu 37 1 38227194 38227194 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:38227194C>T uc009vvi.2 - 3 819 c.733G>A c.(733-735)GAA>AAA p.E245K EPHA10_uc001cbw.3_Missense_Mutation_p.E245K NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 245 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCTCCCCTTCCGAGTGCGCC 0.736 MACF1 23499 broad.mit.edu 37 1 39924911 39924911 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:39924911G>A uc010oiu.1 + 56 16810 c.16679G>A c.(16678-16680)CGG>CAG p.R5560Q MACF1_uc010ois.1_Missense_Mutation_p.R5058Q|MACF1_uc001cde.1_5'Flank|MACF1_uc001cdf.1_5'Flank NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 7016 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCCTTGGATCGGCTGGAGGAG 0.512 KIAA0467 23334 broad.mit.edu 37 1 43912755 43912755 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:43912755G>A uc001cjk.1 + 51 6967 c.6505G>A c.(6505-6507)GGC>AGC p.G2169S KIAA0467_uc001cjl.1_Missense_Mutation_p.G157S NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 3068 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCTGCGGCACGGCTACCACCT 0.607 JUN 3725 broad.mit.edu 37 1 59248392 59248392 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:59248392G>A uc001cze.2 - 1 1394 c.351C>T c.(349-351)GCC>GCT p.A117A uc001czf.2_5'Flank|uc010oop.1_5'Flank NM_002228 NP_002219 P05412 JUN_HUMAN jun oncogene 117 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) GTTCGGCCAGGGCGCGCACGA 0.697 A sarcoma CTSS 1520 broad.mit.edu 37 1 150730364 150730364 + Silent SNP G A A rs139535421 TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:150730364G>A uc001evn.2 - 3 352 c.219C>T c.(217-219)TAC>TAT p.Y73Y CTSS_uc010pcj.1_Silent_p.Y73Y|CTSS_uc001evo.1_Silent_p.Y73Y NM_004079 NP_004070 P25774 CATS_HUMAN cathepsin S preproprotein 73 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity 0 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) TGCCCAGATCGTATGAGTGCA 0.428 FLG 2312 broad.mit.edu 37 1 152285059 152285059 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:152285059G>A uc001ezu.1 - 3 2339 c.2303C>T c.(2302-2304)GCT>GTT p.A768V uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 768 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTGACCAGCCTGTCCATG 0.562 Ichthyosis NUF2 83540 broad.mit.edu 37 1 163315530 163315530 + Missense_Mutation SNP G T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:163315530G>T uc001gcq.1 + 11 1170 c.870G>T c.(868-870)CAG>CAT p.Q290H NUF2_uc001gcp.2_Missense_Mutation_p.Q290H|NUF2_uc001gcr.1_Missense_Mutation_p.Q290H|NUF2_uc009wvc.1_Intron NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 290 Interaction with the N-terminus of NDC80.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) CTTCATGTCAGTTGGAAGTGC 0.358 HMCN1 83872 broad.mit.edu 37 1 186092310 186092310 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:186092310G>A uc001grq.1 + 81 12686 c.12457G>A c.(12457-12459)GTA>ATA p.V4153I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4153 Ig-like C2-type 40. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGCAGCCAATGTAGCAGGATC 0.498 CAMSAP1L1 23271 broad.mit.edu 37 1 200823985 200823985 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:200823985C>T uc001gvl.2 + 15 4167 c.3897C>T c.(3895-3897)AAC>AAT p.N1299N CAMSAP1L1_uc001gvk.2_Silent_p.N1288N|CAMSAP1L1_uc001gvm.2_Silent_p.N1272N NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1299 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 CGGGTGATAACGAGAGTGTAC 0.343 CHML 1122 broad.mit.edu 37 1 241797187 241797187 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr1:241797187G>A uc001hzd.2 - 1 2046 c.1882C>T c.(1882-1884)CCT>TCT p.P628S OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 628 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity p.P628S(1) ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TTGGTTCCAGGAGCCTCTGGC 0.418 MYOF 26509 broad.mit.edu 37 10 95134679 95134679 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr10:95134679G>A uc001kin.2 - 23 2265 c.2142C>T c.(2140-2142)AAC>AAT p.N714N MYOF_uc001kio.2_Silent_p.N701N|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 714 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GAACTGTGACGTTGGCTTTTC 0.448 LRRC27 80313 broad.mit.edu 37 10 134165159 134165159 + Silent SNP G A A rs147065829 TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr10:134165159G>A uc010quw.1 + 7 1170 c.975G>A c.(973-975)CCG>CCA p.P325P LRRC27_uc001llf.2_Missense_Mutation_p.R357H|LRRC27_uc010quv.1_Silent_p.P325P|LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Silent_p.P325P|LRRC27_uc001llj.2_Silent_p.P263P|LRRC27_uc001llk.3_Silent_p.P198P NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a 325 ovary(1) 1 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) TCTTGTCACCGTACCAAATGG 0.527 FAM160A2 84067 broad.mit.edu 37 11 6239211 6239211 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr11:6239211G>A uc001mcl.3 - 9 1964 c.1605C>T c.(1603-1605)GGC>GGT p.G535G FAM160A2_uc001mck.3_Silent_p.G549G|FAM160A2_uc001mcm.2_Silent_p.G535G NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 535 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 TAGGCCGTCGGCCAGGGCTGG 0.652 SLC35C1 55343 broad.mit.edu 37 11 45827648 45827648 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr11:45827648C>T uc001nbp.2 + 1 1008 c.296C>T c.(295-297)CCT>CTT p.P99L SLC35C1_uc001nbo.2_Missense_Mutation_p.P86L|SLC35C1_uc010rgm.1_Missense_Mutation_p.P86L NM_018389 NP_060859 Q96A29 FUCT1_HUMAN GDP-fucose transporter 1 isoform a 99 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity 0 GBM - Glioblastoma multiforme(35;0.227) GCCTGCTGCCCTGGTGCCGTG 0.652 OR4C11 219429 broad.mit.edu 37 11 55371296 55371296 + Missense_Mutation SNP A T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr11:55371296A>T uc010rii.1 - 1 554 c.554T>A c.(553-555)CTT>CAT p.L185H NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CATGCAGGCAAGTTTCAACAA 0.398 OR4P4 81300 broad.mit.edu 37 11 55405976 55405976 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr11:55405976C>T uc010rij.1 + 1 143 c.143C>T c.(142-144)ACG>ATG p.T48M NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 48 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 ATTTCTATCACGTGCACCCAG 0.388 OR5M1 390168 broad.mit.edu 37 11 56380780 56380780 + Missense_Mutation SNP A G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr11:56380780A>G uc001nja.1 - 1 199 c.199T>C c.(199-201)TCC>CCC p.S67P NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TCTACAAAGGAGAGGTGGCCA 0.463 OR5AR1 219493 broad.mit.edu 37 11 56431356 56431356 + Missense_Mutation SNP C A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr11:56431356C>A uc010rjm.1 + 1 195 c.195C>A c.(193-195)AAC>AAA p.N65K NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCTCTGCAACCTCTCCTTTG 0.453 LRP5 4041 broad.mit.edu 37 11 68191121 68191121 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr11:68191121G>A uc001ont.2 + 14 3267 c.3192G>A c.(3190-3192)GGG>GGA p.G1064G LRP5_uc009ysg.2_Silent_p.G474G NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1064 LDL-receptor class B 17.|Beta-propeller 4.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 TGCTGCGTGGGGACCGCGACA 0.677 CLPB 81570 broad.mit.edu 37 11 72005108 72005108 + Silent SNP G A A rs147296630 TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr11:72005108G>A uc001osj.2 - 16 1883 c.1833C>T c.(1831-1833)GAC>GAT p.D611D CLPB_uc010rqx.1_Silent_p.D566D|CLPB_uc010rqy.1_Silent_p.D552D|CLPB_uc001osk.2_Silent_p.D581D|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Silent_p.D410D|CLPB_uc001osi.2_Silent_p.D219D NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 611 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 CATTGTAGCCGTCGACCAGCA 0.612 TMEM25 84866 broad.mit.edu 37 11 118403822 118403822 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr11:118403822C>T uc010rye.1 + 4 747 c.573C>T c.(571-573)ACC>ACT p.T191T TMEM25_uc010ryd.1_Silent_p.T191T|TMEM25_uc001ptk.3_Silent_p.T191T|TMEM25_uc001pth.2_Silent_p.T191T|TMEM25_uc009zad.2_Silent_p.T191T|TMEM25_uc001pti.2_Silent_p.T87T|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Silent_p.T191T|TMEM25_uc001ptm.2_Silent_p.T191T|TMEM25_uc001ptn.2_Silent_p.T191T NM_032780 NP_116169 Q86YD3 TMM25_HUMAN transmembrane protein 25 isoform 1 191 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CCTGGCTCACCAACCACACGG 0.632 AICDA 57379 broad.mit.edu 37 12 8757515 8757515 + Missense_Mutation SNP T A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr12:8757515T>A uc001qur.2 - 4 510 c.431A>T c.(430-432)TAT>TTT p.Y144F AICDA_uc001qup.1_Intron|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 144 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) GCAGTAAAAATAATCTTCAAA 0.428 Immune_Deficiency_with_Hyper-IgM MFSD5 84975 broad.mit.edu 37 12 53646716 53646716 + Missense_Mutation SNP T A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr12:53646716T>A uc001sci.1 + 2 288 c.97T>A c.(97-99)TGC>AGC p.C33S MFSD5_uc001sch.1_Missense_Mutation_p.C140S NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 33 transport integral to membrane skin(2)|ovary(1) 3 TGGAAGGGCCTGCAGCAATCC 0.572 SPIC 121599 broad.mit.edu 37 12 101880531 101880531 + Silent SNP A G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr12:101880531A>G uc001tid.2 + 6 888 c.729A>G c.(727-729)CTA>CTG p.L243L SPIC_uc009zua.2_Silent_p.L118L|SPIC_uc010svp.1_Silent_p.L242L NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 243 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 ACCATGAGCTAAATCACCATG 0.323 CIT 11113 broad.mit.edu 37 12 120148180 120148180 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr12:120148180C>T uc001txi.1 - 38 4874 c.4821G>A c.(4819-4821)GTG>GTA p.V1607V CIT_uc001txh.1_Silent_p.V1126V|CIT_uc001txj.1_Silent_p.V1649V NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1607 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCTCGGTGCCCACCAACACCA 0.512 OASL 8638 broad.mit.edu 37 12 121471350 121471350 + Missense_Mutation SNP A G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr12:121471350A>G uc001tzj.1 - 2 401 c.395T>C c.(394-396)GTC>GCC p.V132A OASL_uc001tzk.1_Missense_Mutation_p.V132A NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 132 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity skin(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGCATCGGGGACTCTCTGCTC 0.587 RIMBP2 23504 broad.mit.edu 37 12 130927081 130927081 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr12:130927081G>A uc001uil.2 - 8 929 c.765C>T c.(763-765)TCC>TCT p.S255S RIMBP2_uc001uim.2_Silent_p.S163S|RIMBP2_uc001uin.1_5'UTR NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 255 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGCCGATGCCGGAATGGTTGA 0.597 PABPC3 5042 broad.mit.edu 37 13 25671129 25671129 + Nonsense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr13:25671129C>T uc001upy.2 + 1 854 c.793C>T c.(793-795)CGA>TGA p.R265* NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 265 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TTACGTTGGTCGAGCTCAGAA 0.403 OR4M1 441670 broad.mit.edu 37 14 20249075 20249075 + Silent SNP G T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr14:20249075G>T uc010tku.1 + 1 594 c.594G>T c.(592-594)GTG>GTT p.V198V NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGGAGTTAGTGATGATCTGTA 0.478 JPH4 84502 broad.mit.edu 37 14 24040215 24040215 + Silent SNP C T T rs144311601 TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr14:24040215C>T uc001wkq.2 - 6 2643 c.1725G>A c.(1723-1725)TCG>TCA p.S575S AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.2_5'Flank|JPH4_uc010tnr.1_Silent_p.S240S|JPH4_uc001wkr.2_Silent_p.S575S NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 575 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CCCTCGAGGACGAGCCCCTCA 0.687 IRF9 10379 broad.mit.edu 37 14 24635334 24635334 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr14:24635334G>A uc001wmq.2 + 9 1238 c.1111G>A c.(1111-1113)GAG>AAG p.E371K RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Missense_Mutation_p.E155K NM_006084 NP_006075 Q00978 IRF9_HUMAN interferon-stimulated transcription factor 3, 371 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00853) AATACAGATGGAGCAGGCCTT 0.597 FNTB 2342 broad.mit.edu 37 14 65520032 65520032 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr14:65520032G>A uc001xia.2 + 10 1197 c.1032G>A c.(1030-1032)CAG>CAA p.Q344Q FNTB_uc010tsl.1_Silent_p.Q378Q|FNTB_uc010tsm.1_Silent_p.Q298Q|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.Q100Q|FNTB_uc010tso.1_Silent_p.Q259Q NM_002028 NP_002019 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta 344 PFTB 5. protein farnesylation microtubule associated complex protein binding|protein farnesyltransferase activity ovary(1) 1 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) TGTGCTGCCAGTGCCCTGCGG 0.592 MAP1A 4130 broad.mit.edu 37 15 43820051 43820051 + Missense_Mutation SNP C G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr15:43820051C>G uc001zrt.2 + 4 6847 c.6380C>G c.(6379-6381)CCT>CGT p.P2127R NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2127 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TCCCCAAGTCCTCCTCACCCC 0.582 FGF7 2252 broad.mit.edu 37 15 49776594 49776594 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr15:49776594G>A uc001zxn.2 + 4 1007 c.478G>A c.(478-480)GGA>AGA p.G160R C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.2_Intron NM_002009 NP_002000 P21781 FGF7_HUMAN fibroblast growth factor 7 precursor 160 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity 0 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) GACACACAACGGAGGGGAAAT 0.353 BCL2L10 10017 broad.mit.edu 37 15 52404684 52404684 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr15:52404684C>T uc002abq.2 - 1 289 c.240G>A c.(238-240)CTG>CTA p.L80L NM_020396 NP_065129 Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 70 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding 0 all cancers(107;0.0148) AATCCGCCATCAGCGCCACCA 0.692 RFX7 64864 broad.mit.edu 37 15 56387837 56387837 + Missense_Mutation SNP G T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr15:56387837G>T uc010bfn.2 - 9 2089 c.2089C>A c.(2089-2091)CAA>AAA p.Q697K RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.Q511K NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 600 regulation of transcription, DNA-dependent nucleus DNA binding 0 GGAACCTTTTGGTCCTTCTTA 0.453 RPP25 54913 broad.mit.edu 37 15 75248658 75248658 + Silent SNP C A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr15:75248658C>A uc002azj.1 - 1 1118 c.267G>T c.(265-267)GCG>GCT p.A89A NM_017793 NP_060263 Q9BUL9 RPP25_HUMAN ribonuclease P 25kDa subunit 89 tRNA processing nucleus protein binding|ribonuclease P activity|RNA binding 0 GGTGCAGGCCCGCCAGGCGGC 0.736 IGF1R 3480 broad.mit.edu 37 15 99251218 99251218 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr15:99251218C>T uc002bul.2 + 2 572 c.522C>T c.(520-522)CCC>CCT p.P174P IGF1R_uc010urq.1_Silent_p.P174P|IGF1R_uc010bon.2_Silent_p.P174P NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 174 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGAATAAGCCCCCAAAGGAAT 0.517 TEKT5 146279 broad.mit.edu 37 16 10788195 10788195 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr16:10788195G>A uc002czz.1 - 1 608 c.536C>T c.(535-537)GCG>GTG p.A179V NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 179 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 CTCATTGGCCGCGCACTCCAG 0.577 ITGAM 3684 broad.mit.edu 37 16 31286944 31286944 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr16:31286944C>T uc002ebq.2 + 9 1031 c.933C>T c.(931-933)CAC>CAT p.H311H ITGAM_uc002ebr.2_Silent_p.H311H|ITGAM_uc010cam.1_Translation_Start_Site NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 311 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CTCGTGATCACGTGTTCCAGG 0.512 CNGB1 1258 broad.mit.edu 37 16 57992360 57992360 + Missense_Mutation SNP T C C TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr16:57992360T>C uc002emt.2 - 11 856 c.791A>G c.(790-792)GAG>GGG p.E264G CNGB1_uc010cdh.2_Missense_Mutation_p.E258G|CNGB1_uc002emu.2_Missense_Mutation_p.E264G NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 264 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 CAAGGCCATCTCCAGCCTGTG 0.622 DULLARD 23399 broad.mit.edu 37 17 7154554 7154554 + Nonsense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr17:7154554C>T uc002gfd.2 - 1 442 c.62G>A c.(61-63)TGG>TAG p.W21* DULLARD_uc002gfe.2_Nonsense_Mutation_p.W21*|DULLARD_uc002gff.2_Nonsense_Mutation_p.W21*|DULLARD_uc002gfc.2_RNA|C17orf81_uc002gfg.1_5'Flank|C17orf81_uc002gfj.2_5'Flank|C17orf81_uc010cmb.2_5'Flank|C17orf81_uc002gfh.1_5'Flank|C17orf81_uc002gfi.1_5'Flank|C17orf81_uc002gfk.1_5'Flank|C17orf81_uc002gfl.1_5'Flank NM_001143775 NP_001137247 O95476 CNEP1_HUMAN dullard homolog 21 Helical; (Potential). nuclear envelope organization|protein dephosphorylation endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein serine/threonine phosphatase activity 0 GAAGAAGCTCCAGAGCTTGGC 0.542 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr17:7577568C>A uc002gim.2 - 7 907 c.713G>T c.(712-714)TGT>TTT p.C238F TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 238 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAACTGTTACACATGTAGTT 0.572 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) LSMD1 84316 broad.mit.edu 37 17 7760481 7760503 + Frame_Shift_Del DEL CTCAGCCGCCGAGTCCTCGCGCT - - TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr17:7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT uc002giz.2 - 2 194_216 c.95_117delAGCGCGAGGACTCGGCGGCTGAG c.(94-117)GAGCGCGAGGACTCGGCGGCTGAGfs p.E32fs LSMD1_uc002gja.2_Frame_Shift_Del_p.E80fs|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank Q9BRA0 LSMD1_HUMAN RecName: Full=LSM domain-containing protein 1; AltName: Full=Phosphonoformate immuno-associated protein 2; 32_39 Potential. cytoplasm|nucleus ovary(1) 1 all_cancers(10;0.11)|Prostate(122;0.219) GTCGGGCGCGCTCAGCCGCCGAGTCCTCGCGCTCTCCGTCCGA 0.682 OREG0024146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PER1 5187 broad.mit.edu 37 17 8048179 8048179 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr17:8048179G>A uc002gkd.2 - 18 2589 c.2351C>T c.(2350-2352)TCC>TTC p.S784F PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.S768F NM_002616 NP_002607 O15534 PER1_HUMAN period 1 784 CSNK1E binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 TGTGTGCAGGGACAGCACGGC 0.443 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes LLGL1 3996 broad.mit.edu 37 17 18135847 18135847 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr17:18135847G>A uc002gsp.2 + 3 279 c.218G>A c.(217-219)CGG>CAG p.R73Q NM_004140 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 73 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1) 6 all_neural(463;0.228) GGCCTGCACCGGGATGCAGCC 0.587 MBTD1 54799 broad.mit.edu 37 17 49270165 49270165 + Silent SNP T C C TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr17:49270165T>C uc002itr.3 - 15 2012 c.1668A>G c.(1666-1668)CAA>CAG p.Q556Q MBTD1_uc002itp.3_Silent_p.Q392Q|MBTD1_uc002itq.3_3'UTR NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 556 MBT 4. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.Q392Q(1) ovary(2) 2 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) GAGGCTGTAGTTGATATCCAG 0.423 BRIP1 83990 broad.mit.edu 37 17 59761146 59761147 + Frame_Shift_Ins INS - T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr17:59761146_59761147insT uc002izk.1 - 20 3401_3402 c.3260_3261insA c.(3259-3261)AATfs p.N1087fs NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1087 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 GTTCAGAATGATTTTTTCTAGT 0.376 F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia ZBTB7C 201501 broad.mit.edu 37 18 45566526 45566526 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr18:45566526G>A uc002lda.2 - 1 969 c.953C>T c.(952-954)CCG>CTG p.P318L ZBTB7C_uc002ldb.2_Missense_Mutation_p.P318L|ZBTB7C_uc010dnu.2_Missense_Mutation_p.P327L|ZBTB7C_uc010dnv.2_Missense_Mutation_p.P340L|ZBTB7C_uc010dnw.2_Missense_Mutation_p.P318L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dny.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dob.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doc.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dod.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doe.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dof.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dog.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doh.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doi.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doj.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dok.1_Missense_Mutation_p.P367L|ZBTB7C_uc010dol.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doa.1_Missense_Mutation_p.P340L|ZBTB7C_uc010don.1_Missense_Mutation_p.P326L|ZBTB7C_uc010doo.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dop.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doq.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dor.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dos.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dot.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dou.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dom.1_Missense_Mutation_p.P327L NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 318 Pro-rich. intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AGGCCCCCCCGGCAGGTCAGG 0.617 C3 718 broad.mit.edu 37 19 6680198 6680198 + Missense_Mutation SNP G T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr19:6680198G>T uc002mfm.2 - 36 4489 c.4427C>A c.(4426-4428)GCA>GAA p.A1476E C3_uc002mfl.2_Missense_Mutation_p.A212E NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1476 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GACCTTGACTGCTCCAGGCTG 0.512 KANK3 256949 broad.mit.edu 37 19 8389585 8389585 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr19:8389585C>T uc010dwa.2 - 9 2278 c.2212G>A c.(2212-2214)GAG>AAG p.E738K NM_198471 NP_940873 Q6NY19 KANK3_HUMAN ankyrin repeat domain 47 738 ANK 4. 0 CGCCCATACTCACTGGCACAC 0.627 ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T C C TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr19:20807460T>C uc002npb.1 - 4 1373 c.1223A>G c.(1222-1224)TAC>TGC p.Y408C ZNF626_uc002npc.1_Missense_Mutation_p.Y332C NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 408 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GTTAGAGGAGTACTTAAAAGC 0.408 ZNF257 113835 broad.mit.edu 37 19 22270778 22270778 + Splice_Site SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr19:22270778G>A uc010ecx.2 + 4 396 c.227_splice c.e4-1 p.V76_splice ZNF257_uc010ecy.2_Splice_Site_p.V44_splice NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTTCTTTTAGTTATGTGTTC 0.294 ZNF302 55900 broad.mit.edu 37 19 35175737 35175737 + Silent SNP C G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr19:35175737C>G uc002nvr.1 + 6 1190 c.927C>G c.(925-927)GCC>GCG p.A309A ZNF302_uc002nvp.1_Silent_p.A265A|ZNF302_uc002nvq.1_Silent_p.A265A|ZNF302_uc002nvs.1_Silent_p.A265A NM_018443 NP_060913 Q9NR11 ZN302_HUMAN zinc finger protein 302 344 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GTGGGAAGGCCTTTAGCCATG 0.448 CGB8 94115 broad.mit.edu 37 19 49551985 49551985 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr19:49551985G>A uc002pmb.3 - 1 384 c.12C>T c.(10-12)TTC>TTT p.F4F CGB_uc010yad.1_Intron|CGB8_uc002pma.2_5'Flank|CGB8_uc002pmc.2_Intron NM_033183 NP_149439 P01233 CGHB_HUMAN chorionic gonadotropin, beta polypeptide 8 4 apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) GTCTTACCTGGAACATCTCCA 0.602 C19orf18 147685 broad.mit.edu 37 19 58485726 58485726 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr19:58485726C>T uc002qqv.2 - 1 179 c.75G>A c.(73-75)CCG>CCA p.P25P NM_152474 NP_689687 Q8NEA5 CS018_HUMAN hypothetical protein LOC147685 precursor 25 integral to membrane ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) CATCTGCATACGGCAAGCATA 0.393 FBLN7 129804 broad.mit.edu 37 2 112944813 112944813 + Silent SNP G A A rs140504449 TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr2:112944813G>A uc002tho.1 + 8 1321 c.1050G>A c.(1048-1050)ACG>ACA p.T350T FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Silent_p.T304T|FBLN7_uc010fkj.1_Silent_p.T216T NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN fibulin 7 isoform 1 350 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding ovary(1)|central_nervous_system(1) 2 ACCTGAAGACGCCCATCACGC 0.652 XIRP2 129446 broad.mit.edu 37 2 168103045 168103045 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr2:168103045C>T uc002udx.2 + 8 5161 c.5143C>T c.(5143-5145)CGT>TGT p.R1715C XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R1540C|XIRP2_uc010fpq.2_Missense_Mutation_p.R1493C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1540 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGATGTCAAACGTACCATTCA 0.338 ABCB11 8647 broad.mit.edu 37 2 169814525 169814525 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr2:169814525C>T uc002ueo.1 - 19 2418 c.2292G>A c.(2290-2292)GTG>GTA p.V764V ABCB11_uc010zda.1_Silent_p.V206V|ABCB11_uc010zdb.1_Silent_p.V240V NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 764 Helical; (Potential).|ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTGTCCCGTTCACAGCTGCAC 0.473 TRAK2 66008 broad.mit.edu 37 2 202272228 202272229 + Frame_Shift_Del DEL AG - - TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr2:202272228_202272229delAG uc002uyb.3 - 3 629_630 c.183_184delCT c.(181-186)CTCTTTfs p.L61fs TRAK2_uc002uyc.2_Frame_Shift_Del_p.L61fs NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 61_62 early endosome|plasma membrane GABA receptor binding 0 TCATATAGAAAGAGAGTGTCTA 0.460 DES 1674 broad.mit.edu 37 2 220286194 220286194 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr2:220286194C>T uc002vll.2 + 6 1242 c.1156C>T c.(1156-1158)CGC>TGC p.R386C NM_001927 NP_001918 P17661 DESM_HUMAN desmin 386 Rod.|Coil 2B. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) CCGCCATCTGCGCGAGTACCA 0.622 RALGAPA2 57186 broad.mit.edu 37 20 20571899 20571899 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr20:20571899C>T uc002wrz.2 - 17 2406 c.2263G>A c.(2263-2265)GTG>ATG p.V755M RALGAPA2_uc010gcx.2_Missense_Mutation_p.V459M|RALGAPA2_uc010zsg.1_Missense_Mutation_p.V203M NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 755 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TGCTGTCCCACTGTGAGATGG 0.512 MYLK2 85366 broad.mit.edu 37 20 30409482 30409482 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr20:30409482C>T uc002wwq.2 + 4 816 c.714C>T c.(712-714)TCC>TCT p.S238S NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 238 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CAGAGAAATCCGAGGTGGGGC 0.637 TTPAL 79183 broad.mit.edu 37 20 43115268 43115268 + Silent SNP T C C TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr20:43115268T>C uc002xmc.1 + 5 796 c.672T>C c.(670-672)CAT>CAC p.H224H TTPAL_uc002xmd.1_Silent_p.H224H|TTPAL_uc010ggr.1_Silent_p.H37H NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 224 CRAL-TRIO. intracellular transporter activity breast(1) 1 AAGCAGTCCATGTGGTGAATG 0.408 TRAPPC10 7109 broad.mit.edu 37 21 45513965 45513965 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr21:45513965G>A uc002zea.2 + 20 3188 c.3019G>A c.(3019-3021)GTG>ATG p.V1007M TRAPPC10_uc010gpo.2_Missense_Mutation_p.V718M|TRAPPC10_uc011afa.1_Missense_Mutation_p.V385M|TRAPPC10_uc011afb.1_Missense_Mutation_p.V112M NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 1007 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CAAGCAGTCGGTGTTCTTCGT 0.542 COL6A1 1291 broad.mit.edu 37 21 47421892 47421892 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr21:47421892G>A uc002zhu.1 + 31 2076 c.1974G>A c.(1972-1974)TCG>TCA p.S658S COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'UTR|COL6A1_uc002zhw.1_5'Flank NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 658 VWFA 2.|C-terminal globular domain. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CAGGGCAGTCGTACGCGGGTG 0.652 CCT8L2 150160 broad.mit.edu 37 22 17072055 17072055 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr22:17072055G>A uc002zlp.1 - 1 1646 c.1386C>T c.(1384-1386)GAC>GAT p.D462D NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 462 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTGCCATCACGTCTGAGACAG 0.527 SETD5 55209 broad.mit.edu 37 3 9489393 9489393 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr3:9489393C>T uc003brt.2 + 15 2241 c.1806C>T c.(1804-1806)GTC>GTT p.V602V SETD5_uc003brs.1_Silent_p.V583V|SETD5_uc003bru.2_Silent_p.V504V|SETD5_uc003brv.2_Silent_p.V491V|SETD5_uc010hck.2_Silent_p.V84V|SETD5_uc003brx.2_Silent_p.V271V NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 602 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AAAAACTAGTCCCCAAGCCAC 0.468 FAM19A4 151647 broad.mit.edu 37 3 68929927 68929927 + Nonsense_Mutation SNP G T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr3:68929927G>T uc003dnh.1 - 3 527 c.84C>A c.(82-84)TGC>TGA p.C28* FAM19A4_uc003dni.1_Nonsense_Mutation_p.C28* NM_182522 NP_872328 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine 28 extracellular region skin(2) 2 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TCAGCTTACAGCACACCATTA 0.512 CEP97 79598 broad.mit.edu 37 3 101476715 101476715 + Missense_Mutation SNP G T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr3:101476715G>T uc003dvk.1 + 9 1292 c.1265G>T c.(1264-1266)AGG>ATG p.R422M CEP97_uc010hpm.1_Missense_Mutation_p.R388M|CEP97_uc011bhf.1_Missense_Mutation_p.R363M|CEP97_uc003dvl.1_Missense_Mutation_p.R118M|CEP97_uc003dvm.1_Missense_Mutation_p.R260M NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 422 CEP110 binding. centrosome|nucleus protein binding ovary(2) 2 GTTGAGCTGAGGCTGCAGGGC 0.473 SPON2 10417 broad.mit.edu 37 4 1165082 1165082 + Missense_Mutation SNP G T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr4:1165082G>T uc003gcn.3 - 2 440 c.413C>A c.(412-414)GCG>GAG p.A138E SPON2_uc003gco.3_Missense_Mutation_p.A138E|SPON2_uc010ibr.2_Missense_Mutation_p.A138E|SPON2_uc003gcm.1_Missense_Mutation_p.A56E NM_012445 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 138 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding p.A138A(1) central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) CTCCAGCTCCGCCGACGTCTG 0.552 HELQ 113510 broad.mit.edu 37 4 84368060 84368060 + Silent SNP T C C TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr4:84368060T>C uc003hom.2 - 4 1499 c.1320A>G c.(1318-1320)AAA>AAG p.K440K HELQ_uc010ikb.2_Intron|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 440 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 AGCTATGTCCTTTTTCAATAG 0.373 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function BMPR1B 658 broad.mit.edu 37 4 96075770 96075770 + Silent SNP G C C TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr4:96075770G>C uc003htm.3 + 13 1729 c.1455G>C c.(1453-1455)CTG>CTC p.L485L BMPR1B_uc010ilb.2_Silent_p.L485L|BMPR1B_uc003htn.3_Silent_p.L485L NM_001203 NP_001194 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 485 Cytoplasmic (Potential).|Protein kinase. BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity lung(4)|skin(2)|stomach(1)|breast(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TGACAGCCCTGCGGGTTAAGA 0.448 DKK2 27123 broad.mit.edu 37 4 107845338 107845338 + Nonsense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr4:107845338G>A uc003hyi.2 - 4 1258 c.553C>T c.(553-555)CGA>TGA p.R185* DKK2_uc003hyj.1_3'UTR NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 185 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) TCTGATGATCGTAGGCAGGGG 0.448 ZFR 51663 broad.mit.edu 37 5 32390482 32390482 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr5:32390482G>A uc003jhr.1 - 12 2121 c.2041C>T c.(2041-2043)CGC>TGC p.R681C ZFR_uc011cny.1_5'Flank NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 681 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) ATTCGGCGGCGATCATCCCAA 0.507 CARTPT 9607 broad.mit.edu 37 5 71015195 71015195 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr5:71015195C>T uc003kbv.1 + 1 202 c.75C>T c.(73-75)ACC>ACT p.T25T NM_004291 NP_004282 Q16568 CART_HUMAN cocaine- and amphetamine-regulated transcript 25 activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission extracellular space ovary(1) 1 Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;8.4e-56) Amphetamine(DB00182) TGTTGGGTACCCGTGCCCAGG 0.657 GCNT4 51301 broad.mit.edu 37 5 74325583 74325583 + Missense_Mutation SNP C A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr5:74325583C>A uc003kdn.2 - 1 1142 c.280G>T c.(280-282)GAC>TAC p.D94Y NM_016591 NP_057675 Q9P109 GCNT4_HUMAN core 2 beta-1,6-N-acetylglucosaminyltransferase 94 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) TCAATGATGTCCCTTCTTCTT 0.403 SLC36A2 153201 broad.mit.edu 37 5 150704898 150704898 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr5:150704898C>T uc003lty.2 - 8 1089 c.959G>A c.(958-960)CGG>CAG p.R320Q GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.R122Q|SLC36A2_uc010jhv.2_Missense_Mutation_p.R320Q NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 320 Extracellular (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCTCCAAACCGCAGGTAGCC 0.488 IL12B 3593 broad.mit.edu 37 5 158743808 158743808 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr5:158743808G>A uc003lxr.1 - 7 914 c.872C>T c.(871-873)ACG>ATG p.T291M NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 291 Fibronectin type-III. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTCTTGTCCGTGAAGACTCT 0.512 OREG0016989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FOXF2 2295 broad.mit.edu 37 6 1391312 1391312 + Missense_Mutation SNP A G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr6:1391312A>G uc003mtm.2 + 1 1244 c.1130A>G c.(1129-1131)GAG>GGG p.E377G FOXF2_uc003mtn.2_Missense_Mutation_p.E377G NM_001452 NP_001443 Q12947 FOXF2_HUMAN forkhead box F2 377 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) TACTCGCTGGAGCAGAGCTAC 0.682 TFAP2A 7020 broad.mit.edu 37 6 10410393 10410393 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr6:10410393G>A uc003myr.2 - 2 473 c.221C>T c.(220-222)TCC>TTC p.S74F TFAP2A_uc003myq.2_Missense_Mutation_p.S68F|TFAP2A_uc003mys.2_Intron|TFAP2A_uc011dih.1_Missense_Mutation_p.S74F|TFAP2A_uc003myt.2_Missense_Mutation_p.S70F|TFAP2A_uc003myu.1_Missense_Mutation_p.S74F|TFAP2A_uc003myv.1_Missense_Mutation_p.S60F|TFAP2A_uc011dii.1_Missense_Mutation_p.S70F|uc003myw.2_5'Flank NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 74 Gln/Pro-rich (transactivation domain). ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) GTTGACGTGGGAGTAAGGATC 0.682 BAI3 577 broad.mit.edu 37 6 70042889 70042889 + Silent SNP A G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr6:70042889A>G uc003pev.3 + 24 3625 c.3177A>G c.(3175-3177)AAA>AAG p.K1059K BAI3_uc010kak.2_Silent_p.K1059K|BAI3_uc011dxx.1_Silent_p.K265K|BAI3_uc003pex.1_Silent_p.K189K NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1059 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AAAAGCTCAAACACAGAGCCG 0.398 CDK19 23097 broad.mit.edu 37 6 110959910 110959910 + Splice_Site SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr6:110959910C>T uc003puh.1 - 5 530 c.457_splice c.e5-1 p.K153_splice CDK19_uc003pui.1_Splice_Site_p.K93_splice|CDK19_uc011eax.1_Splice_Site_p.K29_splice NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 TTGCTGGTTTCTAGAAATAAA 0.289 C6orf170 221322 broad.mit.edu 37 6 121560260 121560260 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr6:121560260G>A uc003pyo.1 - 20 2388 c.2320C>T c.(2320-2322)CCC>TCC p.P774S C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Missense_Mutation_p.P293S NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 774 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) GTAGTTCTGGGATGGGTTACC 0.333 LPA 4018 broad.mit.edu 37 6 160998167 160998167 + Splice_Site SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr6:160998167C>T uc003qtl.2 - 29 4751 c.4631_splice c.e29+1 p.A1544_splice NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CAAATACATACGCATTTGGGT 0.433 SLC29A4 222962 broad.mit.edu 37 7 5331368 5331368 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr7:5331368G>A uc003sod.2 + 5 621 c.460G>A c.(460-462)GAC>AAC p.D154N SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.D154N|SLC29A4_uc003soe.2_Silent_p.A141A NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 154 Helical; (Potential). D->A: Loss of cationic transport activity; increase in uridine uptake. nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) CAGCATCTGCGACGTGTGGCT 0.647 GRM3 2913 broad.mit.edu 37 7 86468659 86468659 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr7:86468659C>T uc003uid.2 + 4 2928 c.1829C>T c.(1828-1830)TCG>TTG p.S610L GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.S482L|GRM3_uc010leh.2_Missense_Mutation_p.S202L NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 610 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane p.S610L(1) lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GTCAAAGCATCGGGCCGAGAA 0.468 TECPR1 25851 broad.mit.edu 37 7 97858368 97858368 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr7:97858368C>T uc003upg.2 - 16 2598 c.2393G>A c.(2392-2394)GGA>GAA p.G798E TECPR1_uc003uph.1_Missense_Mutation_p.G728E NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 798 integral to membrane protein binding pancreas(1) 1 GCAGCCGCCTCCATAGCCGCC 0.677 CYP3A4 1576 broad.mit.edu 37 7 99359709 99359709 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr7:99359709C>T uc003urv.1 - 11 1312 c.1208G>A c.(1207-1209)CGT>CAT p.R403H CYP3A4_uc003urw.1_Missense_Mutation_p.R402H|CYP3A4_uc011kiz.1_Missense_Mutation_p.R362H|CYP3A4_uc011kja.1_Missense_Mutation_p.R354H|CYP3A4_uc011kjb.1_Missense_Mutation_p.R253H NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 403 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CTTTGGGTCACGGTGAAGAGC 0.507 ACHE 43 broad.mit.edu 37 7 100490909 100490909 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr7:100490909G>A uc003uxd.2 - 1 1101 c.945C>T c.(943-945)CAC>CAT p.H315H ACHE_uc003uxe.2_Silent_p.H315H|ACHE_uc003uxf.2_Silent_p.H315H|ACHE_uc003uxg.2_Silent_p.H315H|ACHE_uc003uxh.2_Silent_p.H315H|ACHE_uc003uxi.2_Silent_p.H315H|ACHE_uc003uxj.1_Silent_p.H434H NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 315 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CGTGCCATTCGTGGTTCACCA 0.607 MUC17 140453 broad.mit.edu 37 7 100692247 100692247 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr7:100692247G>A uc003uxp.1 + 5 12710 c.12657G>A c.(12655-12657)ACG>ACA p.T4219T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4219 Extracellular (Potential).|SEA. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AGACATTCACGGAACAGGTAA 0.507 EPHB6 2051 broad.mit.edu 37 7 142561409 142561409 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr7:142561409G>A uc011kst.1 + 6 908 c.121G>A c.(121-123)GGA>AGA p.G41R EPHB6_uc011ksu.1_Missense_Mutation_p.G41R|EPHB6_uc003wbs.2_Intron|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Intron NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 41 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) GGACACCACCGGAGAGACATC 0.597 OR2A12 346525 broad.mit.edu 37 7 143792982 143792982 + Missense_Mutation SNP C A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr7:143792982C>A uc011kty.1 + 1 782 c.782C>A c.(781-783)CCC>CAC p.P261H NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) TACATGGCCCCCAAGTCAAGC 0.547 DLC1 10395 broad.mit.edu 37 8 12952344 12952344 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr8:12952344C>T uc003wwm.2 - 12 3894 c.3450G>A c.(3448-3450)CTG>CTA p.L1150L DLC1_uc003wwk.1_Silent_p.L713L|DLC1_uc003wwl.1_Silent_p.L747L|DLC1_uc011kxx.1_Silent_p.L639L NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1150 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 AATACTGCTTCAGCATGTCTG 0.468 TUSC3 7991 broad.mit.edu 37 8 15531274 15531274 + Missense_Mutation SNP A G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr8:15531274A>G uc003wwt.2 + 6 937 c.727A>G c.(727-729)ACT>GCT p.T243A TUSC3_uc003wwr.2_Missense_Mutation_p.T243A|TUSC3_uc003wws.2_Missense_Mutation_p.T243A|TUSC3_uc003wwu.2_Missense_Mutation_p.T243A|TUSC3_uc003wwv.2_Missense_Mutation_p.T243A|TUSC3_uc003www.2_Missense_Mutation_p.T243A|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.T243A NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 243 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) CTTTGCTATGACTTCTGGCCA 0.383 SFTPC 6440 broad.mit.edu 37 8 22020640 22020640 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr8:22020640C>T uc003xax.3 + 3 407 c.249C>T c.(247-249)GCC>GCT p.A83A SFTPC_uc003xaw.3_Silent_p.A132A|SFTPC_uc011kza.1_Silent_p.A83A|SFTPC_uc003xaz.2_Silent_p.A83A|SFTPC_uc003xay.3_Silent_p.A83A|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank NM_003018 NP_003009 P11686 PSPC_HUMAN surfactant protein C precursor 83 respiratory gaseous exchange extracellular space 0 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) AACGCCTGGCCCTGAGTGAGC 0.617 ADAMDEC1 27299 broad.mit.edu 37 8 24256489 24256489 + Missense_Mutation SNP A G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr8:24256489A>G uc003xdz.2 + 9 1085 c.865A>G c.(865-867)AAC>GAC p.N289D ADAMDEC1_uc010lub.2_Missense_Mutation_p.N210D|ADAMDEC1_uc011lab.1_Missense_Mutation_p.N210D NM_014479 NP_055294 O15204 ADEC1_HUMAN ADAM-like, decysin 1 isoform 1 289 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2) 2 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CACGTTTGACAACTTCCTGAG 0.488 JAK2 3717 broad.mit.edu 37 9 5080558 5080558 + Missense_Mutation SNP A T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr9:5080558A>T uc010mhm.2 + 17 2422 c.2309A>T c.(2308-2310)CAT>CTT p.H770L JAK2_uc003ziw.2_Missense_Mutation_p.H770L NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 770 Protein kinase 1. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) GAAGATAGGCATCAGCTTCCT 0.358 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial FAM120A 23196 broad.mit.edu 37 9 96289441 96289441 + Missense_Mutation SNP A C C TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr9:96289441A>C uc004atw.2 + 8 1448 c.1423A>C c.(1423-1425)ATC>CTC p.I475L FAM120A_uc004atv.2_Missense_Mutation_p.I475L|FAM120A_uc004atx.2_Missense_Mutation_p.I257L|FAM120A_uc004aty.2_Missense_Mutation_p.I256L|FAM120A_uc004atz.2_Missense_Mutation_p.I124L|FAM120A_uc010mrf.1_RNA NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 475 cytoplasm|plasma membrane RNA binding 0 GTTTAGCCATATCAGCGGGAA 0.463 ZNF169 169841 broad.mit.edu 37 9 97063382 97063382 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr9:97063382C>T uc004aum.1 + 5 1647 c.1542C>T c.(1540-1542)TAC>TAT p.Y514Y NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 514 C2H2-type 11; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) AGGAGCTTTACGTAGACAGGG 0.537 TUBBP5 643224 broad.mit.edu 37 9 141070969 141070969 + Silent SNP A G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chr9:141070969A>G uc004com.2 + 4 633 c.372A>G c.(370-372)GCA>GCG p.A124A TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TAGAAAACGCAGATGAGACCT 0.517 RAI2 10742 broad.mit.edu 37 X 17819726 17819726 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:17819726G>A uc004cyf.2 - 3 975 c.405C>T c.(403-405)AAC>AAT p.N135N RAI2_uc004cyg.2_Silent_p.N135N|RAI2_uc010nfa.2_Silent_p.N135N|RAI2_uc004cyh.3_Silent_p.N135N|RAI2_uc011miy.1_Silent_p.N85N NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 135 embryo development p.N135D(1) ovary(1)|breast(1) 2 Hepatocellular(33;0.183) CCAGAGGGGAGTTGAGGTGCT 0.642 ACOT9 23597 broad.mit.edu 37 X 23731303 23731303 + Missense_Mutation SNP G T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:23731303G>T uc004dap.2 - 8 730 c.584C>A c.(583-585)CCT>CAT p.P195H ACOT9_uc004dao.2_Missense_Mutation_p.P204H|ACOT9_uc004daq.2_Missense_Mutation_p.P153H|ACOT9_uc004dar.2_Missense_Mutation_p.P135H|ACOT9_uc011mjt.1_Intron|ACOT9_uc004das.2_Missense_Mutation_p.P135H|ACOT9_uc004dat.1_Missense_Mutation_p.P195H NM_001033583 NP_001028755 Q9Y305 ACOT9_HUMAN acyl-Coenzyme A thioesterase 2, mitochondrial 195 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity ovary(2)|pancreas(1) 3 ATCCAAAACAGGACAAAATTC 0.299 FAM47C 442444 broad.mit.edu 37 X 37027694 37027694 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:37027694C>T uc004ddl.1 + 1 1225 c.1211C>T c.(1210-1212)CCG>CTG p.P404L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 404 ovary(3) 3 CCTCTCTTCCCGGAGCCTCCC 0.607 SYN1 6853 broad.mit.edu 37 X 47478794 47478794 + Missense_Mutation SNP C G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:47478794C>G uc004die.2 - 1 463 c.334G>C c.(334-336)GCC>CCC p.A112P SYN1_uc004did.2_Missense_Mutation_p.A112P NM_006950 NP_008881 P17600 SYN1_HUMAN synapsin I isoform Ia 112 B; linker. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity ovary(1) 1 ACCCTGGAGGCGGCTCCCCCG 0.716 ZNF182 7569 broad.mit.edu 37 X 47836621 47836621 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:47836621G>A uc004dir.2 - 7 1211 c.865C>T c.(865-867)CCC>TCC p.P289S ZNF182_uc004dis.2_Missense_Mutation_p.P270S|ZNF182_uc004dit.2_Missense_Mutation_p.P289S|ZNF182_uc011mlu.1_Missense_Mutation_p.P269S NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 CACTCAAAGGGTCTCTCTCCT 0.403 SMC1A 8243 broad.mit.edu 37 X 53439849 53439849 + Splice_Site SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:53439849C>T uc004dsg.2 - 5 923 c.854_splice c.e5+1 p.K285_splice SMC1A_uc011moe.1_Splice_Site_p.K263_splice|SMC1A_uc011mof.1_Intron NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 CTGCCTCTTACTTGAtctcct 0.264 P2RY10 27334 broad.mit.edu 37 X 78216911 78216911 + Silent SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:78216911C>T uc004ede.2 + 4 1263 c.894C>T c.(892-894)TGC>TGT p.C298C P2RY10_uc004edf.2_Silent_p.C298C NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 298 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 GTCTCTGCTGCCTTTTGGATC 0.483 PABPC5 140886 broad.mit.edu 37 X 90690820 90690820 + Missense_Mutation SNP G T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:90690820G>T uc004efg.2 + 2 684 c.244G>T c.(244-246)GAT>TAT p.D82Y PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 82 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 CATGAATTTTGATTTGATTAA 0.483 PABPC5 140886 broad.mit.edu 37 X 90690988 90690988 + Missense_Mutation SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:90690988G>A uc004efg.2 + 2 852 c.412G>A c.(412-414)GTA>ATA p.V138I PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 138 RRM 2. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 CTGCAAAGTCGTATGCGATGA 0.453 BHLHB9 80823 broad.mit.edu 37 X 102005060 102005060 + Silent SNP T A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:102005060T>A uc010nog.2 + 4 1708 c.1137T>A c.(1135-1137)CCT>CCA p.P379P BHLHB9_uc011mrq.1_Silent_p.P379P|BHLHB9_uc011mrr.1_Silent_p.P379P|BHLHB9_uc011mrs.1_Silent_p.P379P|BHLHB9_uc011mrt.1_Silent_p.P379P|BHLHB9_uc004ejo.2_Silent_p.P379P|BHLHB9_uc011mru.1_Silent_p.P379P|BHLHB9_uc011mrv.1_Silent_p.P379P NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 379 cytoplasm|nucleus binding ovary(2) 2 TTCCTTCCCCTGAAATGAGAA 0.378 AKAP14 158798 broad.mit.edu 37 X 119048716 119048716 + Missense_Mutation SNP G C C TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:119048716G>C uc004ese.2 + 5 454 c.316G>C c.(316-318)GAC>CAC p.D106H AKAP14_uc004esf.2_Intron NM_178813 NP_848928 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 isoform a 106 cytoplasm 0 AGAGAGGAAAGACTTAATTCA 0.408 DCAF12L2 340578 broad.mit.edu 37 X 125299171 125299171 + Missense_Mutation SNP C T T TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:125299171C>T uc004euk.1 - 1 764 c.737G>A c.(736-738)CGT>CAT p.R246H NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 246 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 ATCCCTCGGACGGATGTGGGC 0.647 ZNF449 203523 broad.mit.edu 37 X 134494349 134494349 + Missense_Mutation SNP C G G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:134494349C>G uc004eys.2 + 5 1070 c.905C>G c.(904-906)TCC>TGC p.S302C ZNF449_uc004eyt.2_Missense_Mutation_p.S182C|ZNF449_uc004eyu.2_Missense_Mutation_p.S108C NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 302 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CCTGAGAACTCCAACTTGGAA 0.468 FLNA 2316 broad.mit.edu 37 X 153581222 153581222 + Silent SNP G A A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx b5a5717d-0e3d-4b44-82f3-5b68187beb52 76e56e2a-adf5-4aab-98e8-9c77fa53c024 g.chrX:153581222G>A uc004fkk.2 - 39 6546 c.6297C>T c.(6295-6297)GAC>GAT p.D2099D FLNA_uc004fki.2_Silent_p.D142D|FLNA_uc011mzn.1_Silent_p.D232D|FLNA_uc010nuu.1_Silent_p.D2091D NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2099 Filamin 19. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCACGTCCCGTCCTCCAGGT 0.602