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 LRRC47 57470 broad.mit.edu 37 1 3699235 3699235 + Missense_Mutation SNP T C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr1:3699235T>C uc001akx.1 - 5 1431 c.1403A>G c.(1402-1404)GAG>GGG p.E468G NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 468 translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CTTTGTCTTCTCACTGTTGGT 0.398 PRAMEF12 390999 broad.mit.edu 37 1 12837263 12837263 + Missense_Mutation SNP G C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr1:12837263G>C uc001aui.2 + 3 1000 c.973G>C c.(973-975)GAC>CAC p.D325H NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 325 LRR 1. ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAAAGAGCTAGACCTGAGGGG 0.577 FHL3 2275 broad.mit.edu 37 1 38464646 38464646 + Missense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr1:38464646C>T uc001ccj.2 - 3 418 c.331G>A c.(331-333)GGG>AGG p.G111R FHL3_uc001cck.2_Missense_Mutation_p.G111R|FHL3_uc001ccl.2_Missense_Mutation_p.G111R|FHL3_uc001ccm.2_Missense_Mutation_p.G3R|FHL3_uc009vvl.1_Missense_Mutation_p.G111R NM_004468 NP_004459 Q13643 FHL3_HUMAN four and a half LIM domains 3 111 LIM zinc-binding 2. muscle organ development zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GAACACATACCAGGCATGACA 0.527 CDCP2 200008 broad.mit.edu 37 1 54605733 54605733 + Silent SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr1:54605733G>A uc001cwv.1 - 4 1658 c.810C>T c.(808-810)AGC>AGT p.S270S NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 270 CUB 3. extracellular region ovary(1) 1 GGTACTGTGGGCTGGAGAAGT 0.617 RPF1 80135 broad.mit.edu 37 1 84962001 84962001 + Missense_Mutation SNP T C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr1:84962001T>C uc001djv.3 + 8 1001 c.956T>C c.(955-957)CTT>CCT p.L319P NM_025065 NP_079341 Q9H9Y2 RPF1_HUMAN RNA processing factor 1 319 RNA-binding (By similarity).|Brix. rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding 0 TTAAGGTCTCTTCAGAAAGGA 0.323 FLG 2312 broad.mit.edu 37 1 152282534 152282534 + Missense_Mutation SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr1:152282534G>A uc001ezu.1 - 3 4864 c.4828C>T c.(4828-4830)CGG>TGG p.R1610W NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1610 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) GACTCAGACCGCCTCTCAGAG 0.572 Ichthyosis NCSTN 23385 broad.mit.edu 37 1 160318815 160318815 + Missense_Mutation SNP A G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr1:160318815A>G uc001fvx.2 + 3 341 c.217A>G c.(217-219)ATC>GTC p.I73V NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.I53V|NCSTN_uc010pjf.1_Missense_Mutation_p.I73V|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 73 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CACAGGGGTTATCCACGTAGT 0.468 RYR2 6262 broad.mit.edu 37 1 237780610 237780610 + Missense_Mutation SNP T C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr1:237780610T>C uc001hyl.1 + 38 5860 c.5740T>C c.(5740-5742)TGT>CGT p.C1914R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1914 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCAGTACCTCTGTGACTGCCA 0.383 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 RET 5979 broad.mit.edu 37 10 43597850 43597850 + Missense_Mutation SNP G A A rs138265837 TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr10:43597850G>A uc001jal.2 + 3 588 c.398G>A c.(397-399)CGT>CAT p.R133H RET_uc001jak.1_Missense_Mutation_p.R133H|RET_uc010qez.1_5'Flank NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 133 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) ACATCCCTTCGTGAGGGCGAG 0.617 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma FAM13C 220965 broad.mit.edu 37 10 61022289 61022289 + Missense_Mutation SNP G C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr10:61022289G>C uc001jkn.2 - 11 1275 c.1141C>G c.(1141-1143)CCG>GCG p.P381A FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.P298A|FAM13C_uc010qie.1_Missense_Mutation_p.P298A|FAM13C_uc010qif.1_Missense_Mutation_p.P403A|FAM13C_uc001jkp.2_Missense_Mutation_p.P298A NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 381 ovary(2) 2 CTTGGCTCCGGGCCCGCAGCT 0.547 RNH1 6050 broad.mit.edu 37 11 494709 494709 + Silent SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr11:494709G>A uc001lpk.1 - 9 2776 c.1368C>T c.(1366-1368)TCC>TCT p.S456S RNH1_uc001lpl.1_Silent_p.S456S|RNH1_uc001lpm.1_Silent_p.S456S|RNH1_uc001lpn.1_Silent_p.S456S|RNH1_uc001lpo.1_Silent_p.S456S|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.S456S|RNH1_uc001lpt.1_Silent_p.S213S|RNH1_uc001lpq.1_Silent_p.S456S|RNH1_uc001lpr.1_Silent_p.S456S|RNH1_uc001lps.1_Silent_p.S456S NM_203389 NP_976323 P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 456 mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity 0 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGACCCTCAGGGATGGCTTGT 0.647 CD59 966 broad.mit.edu 37 11 33731856 33731856 + Missense_Mutation SNP T C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr11:33731856T>C uc001mus.3 - 3 485 c.203A>G c.(202-204)GAG>GGG p.E68G CD59_uc009yjx.2_Missense_Mutation_p.E68G|CD59_uc009yjy.2_Missense_Mutation_p.E68G|CD59_uc009yjz.2_Missense_Mutation_p.E68G|CD59_uc001mut.3_Missense_Mutation_p.E68G|CD59_uc009yka.2_Missense_Mutation_p.E68G|CD59_uc001muu.3_Missense_Mutation_p.E68G|CD59_uc001muv.3_Missense_Mutation_p.E68G|CD59_uc001mux.3_Missense_Mutation_p.S109G NM_001127223 NP_001120695 P13987 CD59_HUMAN CD59 antigen preproprotein 68 UPAR/Ly6. blood coagulation|cell surface receptor linked signaling pathway anchored to external side of plasma membrane|extracellular region|membrane fraction 0 ATTGCAATGCTCAAACTTCCA 0.433 OR5AK2 390181 broad.mit.edu 37 11 56756567 56756567 + Missense_Mutation SNP A G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr11:56756567A>G uc010rjp.1 + 1 179 c.179A>G c.(178-180)TAC>TGC p.Y60C NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 ACACTCACGTACTTTTTTCTA 0.358 PC 5091 broad.mit.edu 37 11 66618277 66618277 + Missense_Mutation SNP C A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr11:66618277C>A uc001ojn.1 - 16 2390 c.2341G>T c.(2341-2343)GCA>TCA p.A781S PC_uc001ojo.1_Missense_Mutation_p.A781S|PC_uc001ojp.1_Missense_Mutation_p.A781S|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 781 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) AGCATGGCTGCCACGCCTGCC 0.657 SLC38A4 55089 broad.mit.edu 37 12 47163207 47163207 + Missense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr12:47163207C>T uc001rpi.2 - 15 1703 c.1304G>A c.(1303-1305)CGT>CAT p.R435H SLC38A4_uc001rpj.2_Missense_Mutation_p.R435H NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 435 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) CACTGATGTACGAATCTTAAA 0.353 TFCP2 7024 broad.mit.edu 37 12 51501060 51501060 + Missense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr12:51501060C>T uc001rxw.2 - 7 1246 c.787G>A c.(787-789)GAG>AAG p.E263K TFCP2_uc001rxv.1_Missense_Mutation_p.E263K|TFCP2_uc009zlx.1_Missense_Mutation_p.E212K|TFCP2_uc001rxx.2_Missense_Mutation_p.E263K|TFCP2_uc009zly.1_Missense_Mutation_p.E165K NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 263 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGATATTTCTCCTTTTCATGA 0.323 Unknown 0 broad.mit.edu 37 12 98850560 98850560 + Missense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr12:98850560C>T uc009ztm.1 - 1 364 c.175G>A c.(175-177)GTT>ATT p.V59I Homo sapiens cDNA FLJ35312 fis, clone PROST2010545, highly similar to Sodium/hydrogen exchanger 7. ATCACCCCAACGATGAGCCCA 0.552 PCDH9 5101 broad.mit.edu 37 13 67802278 67802279 + Frame_Shift_Del DEL CA - - TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr13:67802278_67802279delCA uc001vik.2 - 2 986_987 c.294_295delTG c.(292-297)TGTGCTfs p.C98fs PCDH9_uc001vil.2_Frame_Shift_Del_p.C98fs|PCDH9_uc010thl.1_Frame_Shift_Del_p.C98fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.C98fs NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 98_99 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GAGGCGCCAGCACAGAGTTTTT 0.436 FARP1 10160 broad.mit.edu 37 13 99061722 99061722 + Silent SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr13:99061722G>A uc001vnj.2 + 14 1881 c.1545G>A c.(1543-1545)CCG>CCA p.P515P FARP1_uc001vnh.2_Silent_p.P515P NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 515 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TGATCAGCCCGCTGCTGAATG 0.652 RNASE2 6036 broad.mit.edu 37 14 21424331 21424331 + Missense_Mutation SNP A T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr14:21424331A>T uc010aif.2 + 2 470 c.401A>T c.(400-402)TAT>TTT p.Y134F RNASE2_uc001vyl.1_Missense_Mutation_p.Y134F NM_002934 NP_002925 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, 134 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity ovary(1) 1 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) AACATGTTCTATATAGTTGCA 0.463 JUB 84962 broad.mit.edu 37 14 23444297 23444297 + Missense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr14:23444297C>T uc001whz.2 - 5 1632 c.1256G>A c.(1255-1257)GGG>GAG p.G419E JUB_uc001why.2_Missense_Mutation_p.G2E NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 419 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) ATAGGACTTCCCCATTGCTTG 0.502 KCNH5 27133 broad.mit.edu 37 14 63316419 63316419 + Missense_Mutation SNP A T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr14:63316419A>T uc001xfx.2 - 8 1572 c.1521T>A c.(1519-1521)GAT>GAA p.D507E KCNH5_uc001xfy.2_Missense_Mutation_p.D507E|KCNH5_uc001xfz.1_Missense_Mutation_p.D449E NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 507 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AGACAATATAATCCATGACTC 0.378 ADAMTS7 11173 broad.mit.edu 37 15 79059849 79059849 + Missense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr15:79059849C>T uc002bej.3 - 18 2942 c.2731G>A c.(2731-2733)GTG>ATG p.V911M ADAMTS7_uc010und.1_Intron NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 911 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 TCCAGCCCCACGCTGCGGATG 0.706 ADAMTS17 170691 broad.mit.edu 37 15 100591784 100591784 + Silent SNP G A A rs146325180 by1000genomes TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr15:100591784G>A uc002bvv.1 - 17 2527 c.2448C>T c.(2446-2448)TGC>TGT p.C816C NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 816 TSP type-1 2. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CACCTCCGCCGCACTGCACAC 0.567 IL4R 3566 broad.mit.edu 37 16 27374437 27374437 + Silent SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr16:27374437G>A uc002don.2 + 11 2006 c.1764G>A c.(1762-1764)CAG>CAA p.Q588Q IL4R_uc002dop.3_Silent_p.Q573Q|IL4R_uc010bxy.2_Silent_p.Q588Q|IL4R_uc002doo.2_Silent_p.Q428Q NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 588 Required for IL4-induced gene expression.|Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 GTGGCACCCAGGCCAGTGCGG 0.637 YWHAE 7531 broad.mit.edu 37 17 1303395 1303395 + Nonsense_Mutation SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr17:1303395G>A uc002fsj.2 - 1 162 c.10C>T c.(10-12)CGA>TGA p.R4* YWHAE_uc002fsk.2_5'UTR|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA NM_006761 NP_006752 P62258 1433E_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 4 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding lung(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) AGATCCTCTCGATCATCCATA 0.657 YBX2 51087 broad.mit.edu 37 17 7194458 7194458 + Missense_Mutation SNP A G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr17:7194458A>G uc002gfq.2 - 4 470 c.413T>C c.(412-414)GTT>GCT p.V138A NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 138 CSD.|Required for cytoplasmic retention (By similarity). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding 0 CCCATCTCCAACGCTGCGCAG 0.502 TP53 7157 broad.mit.edu 37 17 7577609 7577609 + Splice_Site SNP C G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr17:7577609C>G uc002gim.2 - 7 867 c.673_splice c.e7-1 p.V225_splice TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(12)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(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) CAGAGCCAACCTAGGAGATAA 0.488 111 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) WDR16 146845 broad.mit.edu 37 17 9546402 9546402 + Missense_Mutation SNP G T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr17:9546402G>T uc002gly.2 + 14 1819 c.1750G>T c.(1750-1752)GTG>TTG p.V584L USP43_uc002gma.3_5'Flank|USP43_uc010cod.2_5'Flank|USP43_uc010vva.1_5'Flank|WDR16_uc002glz.2_Missense_Mutation_p.V516L|WDR16_uc010coc.2_Missense_Mutation_p.V594L NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 584 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 TCACGTTGGGGTGGGACACAG 0.443 BRCA1 672 broad.mit.edu 37 17 41245683 41245683 + Missense_Mutation SNP G A A rs56039126 TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr17:41245683G>A uc002icq.2 - 10 2097 c.1865C>T c.(1864-1866)GCG>GTG p.A622V BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.A551V|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.A575V|BRCA1_uc002ict.2_Missense_Mutation_p.A622V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.A622V|BRCA1_uc002ide.1_Missense_Mutation_p.A453V|BRCA1_uc010cyy.1_Missense_Mutation_p.A622V|BRCA1_uc010whs.1_Missense_Mutation_p.A622V|BRCA1_uc010cyz.2_Missense_Mutation_p.A575V|BRCA1_uc010cza.2_Missense_Mutation_p.A596V|BRCA1_uc010wht.1_Missense_Mutation_p.A326V NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 622 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TAGTTCAAGCGCATGAATATG 0.358 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) CSH2 1443 broad.mit.edu 37 17 61950623 61950623 + Silent SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr17:61950623G>A uc002jch.2 - 2 202 c.87C>T c.(85-87)ACC>ACT p.T29T CSH2_uc002jcg.2_Silent_p.T29T|CSH2_uc002jci.2_Silent_p.T29T|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Silent_p.T29T NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 29 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 ATAACGGAACGGTTTGGACGG 0.597 BPTF 2186 broad.mit.edu 37 17 65888098 65888098 + Missense_Mutation SNP A T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr17:65888098A>T uc002jgf.2 + 5 2064 c.2003A>T c.(2002-2004)CAG>CTG p.Q668L BPTF_uc002jge.2_Missense_Mutation_p.Q794L|BPTF_uc010wqm.1_Missense_Mutation_p.Q731L NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 794 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AAGAGCCAGCAGGTGGCAGCC 0.433 ABCA6 23460 broad.mit.edu 37 17 67077247 67077247 + Silent SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr17:67077247G>A uc002jhw.1 - 37 4831 c.4656C>T c.(4654-4656)GAC>GAT p.D1552D NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1552 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) GAGGGTAAACGTCTGCCACGG 0.373 SERPINB3 6317 broad.mit.edu 37 18 61323102 61323102 + Missense_Mutation SNP C T T rs140650845 by1000genomes TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr18:61323102C>T uc002lji.2 - 8 1106 c.962G>A c.(961-963)CGC>CAC p.R321H SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.R269H NM_006919 NP_008850 P29508 SPB3_HUMAN serine (or cysteine) proteinase inhibitor, clade 321 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CACGAGACCGCGGCTCCCGGT 0.542 VAV1 7409 broad.mit.edu 37 19 6828653 6828653 + Silent SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr19:6828653C>T uc002mfu.1 + 12 1210 c.1113C>T c.(1111-1113)AAC>AAT p.N371N VAV1_uc010xjh.1_Silent_p.N339N|VAV1_uc010dva.1_Silent_p.N371N|VAV1_uc002mfv.1_Silent_p.N316N NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 371 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 AGTGCGTGAACGAGGTCAAGC 0.637 TMEM205 374882 broad.mit.edu 37 19 11453778 11453778 + Missense_Mutation SNP T G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr19:11453778T>G uc002mrb.2 - 4 471 c.283A>C c.(283-285)AGC>CGC p.S95R TMEM205_uc002mra.2_Missense_Mutation_p.S95R|TMEM205_uc002mqz.2_Missense_Mutation_p.S95R|TMEM205_uc002mrc.2_Missense_Mutation_p.S95R NM_001145416 NP_001138888 Q6UW68 TM205_HUMAN transmembrane protein 205 95 Helical; (Potential). integral to membrane 0 AGCGTAAGGCTCAGGAACAGC 0.642 MLL4 9757 broad.mit.edu 37 19 36210728 36210728 + Missense_Mutation SNP C A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr19:36210728C>A uc010eei.2 + 3 479 c.479C>A c.(478-480)CCC>CAC p.P160H NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 160 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGACGACCCCCCTTCCTCCT 0.612 LILRA4 23547 broad.mit.edu 37 19 54848149 54848149 + Silent SNP C G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr19:54848149C>G uc002qfj.2 - 6 1275 c.1218G>C c.(1216-1218)CTG>CTC p.L406L LILRA4_uc002qfi.2_Silent_p.L340L NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 406 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TGGGGTGAGACAGCAGGTAGG 0.592 ZIM3 114026 broad.mit.edu 37 19 57646590 57646590 + Missense_Mutation SNP A T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr19:57646590A>T uc002qnz.1 - 5 1501 c.1115T>A c.(1114-1116)TTT>TAT p.F372Y NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 372 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTCTGGATAAAGGTATTTCC 0.378 ASXL2 55252 broad.mit.edu 37 2 25966927 25966927 + Missense_Mutation SNP G T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:25966927G>T uc002rgs.2 - 12 2500 c.2279C>A c.(2278-2280)CCA>CAA p.P760Q ASXL2_uc002rgt.1_Missense_Mutation_p.P500Q NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 760 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCCTGGCTTGGGGTGGTCTT 0.587 TMEM214 54867 broad.mit.edu 37 2 27263616 27263616 + Missense_Mutation SNP A T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:27263616A>T uc002ria.3 + 17 2091 c.1981A>T c.(1981-1983)AGT>TGT p.S661C TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.S616C NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 661 integral to membrane protein binding 0 GACACAGCTCAGTGAGGCTGT 0.532 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:114355998C>G uc002tkh.2 + 5 674 c.616C>G c.(616-618)CAC>GAC p.H206D WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA NM_182905 NP_878908 WAS protein family homolog 1 0 CCAAGGTGGGCACTTGATGTC 0.612 THSD7B 80731 broad.mit.edu 37 2 138421119 138421119 + Missense_Mutation SNP G T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:138421119G>T uc002tva.1 + 25 4538 c.4538G>T c.(4537-4539)GGA>GTA p.G1513V THSD7B_uc010zbj.1_RNA NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) ATTTTTAAAGGATGGTCTCTT 0.368 SCN3A 6328 broad.mit.edu 37 2 165996030 165996030 + Missense_Mutation SNP T C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:165996030T>C uc002ucx.2 - 14 2600 c.2108A>G c.(2107-2109)CAA>CGA p.Q703R SCN3A_uc002ucy.2_Missense_Mutation_p.Q654R|SCN3A_uc002ucz.2_Missense_Mutation_p.Q654R|SCN3A_uc002uda.1_Missense_Mutation_p.Q523R|SCN3A_uc002udb.1_Missense_Mutation_p.Q523R NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 703 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CACGGCTCTTTGCCTTCCAGA 0.463 TTN 7273 broad.mit.edu 37 2 179610349 179610349 + Missense_Mutation SNP C A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:179610349C>A uc002unb.2 - 46 17002 c.16778G>T c.(16777-16779)GGA>GTA p.G5593V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 9063 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCAGCCATTCCTGATTTGTT 0.378 DNAJC10 54431 broad.mit.edu 37 2 183597246 183597246 + Nonsense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:183597246C>T uc002uow.1 + 10 1241 c.826C>T c.(826-828)CGA>TGA p.R276* DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R276*|DNAJC10_uc010fro.1_Intron NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 276 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTCACAGACACGACTCAGGCT 0.348 MOBKL3 25843 broad.mit.edu 37 2 198415097 198415097 + Missense_Mutation SNP T C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:198415097T>C uc002uun.3 + 7 573 c.533T>C c.(532-534)TTT>TCT p.F178S MOBKL3_uc002uum.3_Missense_Mutation_p.F146S|MOBKL3_uc010fsn.2_Missense_Mutation_p.F157S|MOBKL3_uc010fso.2_Missense_Mutation_p.F79S|MOBKL3_uc010zgz.1_Missense_Mutation_p.F79S NM_015387 NP_056202 Q9Y3A3 MOBL3_HUMAN Mps One Binder kinase activator-like 3 isoform 178 transport Golgi cisterna membrane|perinuclear region of cytoplasm metal ion binding|protein binding 0 Epithelial(96;0.225) CGGCAGATATTTGATGAATAT 0.313 PLCL1 5334 broad.mit.edu 37 2 198950332 198950332 + Silent SNP G A A rs147854527 by1000genomes TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:198950332G>A uc010fsp.2 + 2 2382 c.2091G>A c.(2089-2091)CCG>CCA p.P697P PLCL1_uc002uuv.3_Silent_p.P618P NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 697 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TTCTAAGGCCGTCTATAATGC 0.458 ZDBF2 57683 broad.mit.edu 37 2 207174816 207174816 + Missense_Mutation SNP T G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr2:207174816T>G uc002vbp.2 + 5 5814 c.5564T>G c.(5563-5565)TTC>TGC p.F1855C NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1855 nucleic acid binding|zinc ion binding ovary(3) 3 GAAGGTCGTTTCCACTGTTAC 0.418 SEMG1 6406 broad.mit.edu 37 20 43836974 43836974 + Missense_Mutation SNP A G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr20:43836974A>G uc002xni.2 + 2 1093 c.1036A>G c.(1036-1038)ATA>GTA p.I346V SEMG1_uc002xnj.2_Missense_Mutation_p.I286V|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 346 58 AA repeat 2. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) GGCAAATAAAATATCATACCA 0.393 UBASH3A 53347 broad.mit.edu 37 21 43846877 43846877 + Missense_Mutation SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr21:43846877G>A uc002zbe.2 + 8 1154 c.1118G>A c.(1117-1119)GGG>GAG p.G373E UBASH3A_uc002zbf.2_Missense_Mutation_p.G335E|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.G335E NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 373 cytosol|nucleus ovary(3) 3 AGATGCAGCGGGGAATTTCTT 0.473 GRAP2 9402 broad.mit.edu 37 22 40364194 40364194 + Missense_Mutation SNP A C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr22:40364194A>C uc003ayh.1 + 6 871 c.608A>C c.(607-609)CAG>CCG p.Q203P GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.Q177P|GRAP2_uc011aon.1_Missense_Mutation_p.Q137P|GRAP2_uc010gya.1_Missense_Mutation_p.Q203P|GRAP2_uc011aoo.1_Missense_Mutation_p.Q131P|GRAP2_uc011aop.1_Missense_Mutation_p.Q163P|GRAP2_uc011aoq.1_Missense_Mutation_p.Q90P|GRAP2_uc003ayj.1_Missense_Mutation_p.Q203P NM_004810 NP_004801 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 203 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 caccagccacagcctccgcaa 0.299 FBLN2 2199 broad.mit.edu 37 3 13679178 13679178 + Missense_Mutation SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr3:13679178G>A uc011avb.1 + 17 3439 c.3314G>A c.(3313-3315)CGC>CAC p.R1105H FBLN2_uc011auz.1_Missense_Mutation_p.R1131H|FBLN2_uc011ava.1_Missense_Mutation_p.R1152H|FBLN2_uc011avc.1_Missense_Mutation_p.R1152H NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 1105 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CATATCTTCCGCATTGGCCCC 0.617 CASR 846 broad.mit.edu 37 3 121981197 121981197 + Missense_Mutation SNP C A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr3:121981197C>A uc003eev.3 + 4 1687 c.1315C>A c.(1315-1317)CCT>ACT p.P439T CASR_uc003eew.3_Missense_Mutation_p.P439T NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 439 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TACCTGCTTACCTGGGAGAGG 0.453 FETUB 26998 broad.mit.edu 37 3 186362631 186362631 + Silent SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr3:186362631C>T uc010hyq.2 + 5 777 c.516C>T c.(514-516)ACC>ACT p.T172T FETUB_uc011brz.1_Silent_p.T24T|FETUB_uc003fqn.2_Silent_p.T172T|FETUB_uc003fqo.2_Silent_p.T67T|FETUB_uc010hyr.2_Silent_p.T135T|FETUB_uc010hys.2_Silent_p.T24T|FETUB_uc003fqp.3_Silent_p.T107T NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 172 Cystatin fetuin-B-type 2. extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) AGGCTGCCACCGAGTCTCTTG 0.473 RAB28 9364 broad.mit.edu 37 4 13383174 13383174 + Missense_Mutation SNP G C C rs139395840 byFrequency TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr4:13383174G>C uc003gmu.2 - 5 651 c.436C>G c.(436-438)CGG>GGG p.R146G RAB28_uc003gmt.2_Missense_Mutation_p.R146G|RAB28_uc011bwz.1_Missense_Mutation_p.R146G|RAB28_uc003gmv.2_RNA NM_001017979 NP_001017979 P51157 RAB28_HUMAN RAB28, member RAS oncogene family isoform 1 146 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity p.R146W(1) ovary(1)|skin(1) 2 TGGCAAAACCGTAAGTGTTTT 0.328 NCAPG 64151 broad.mit.edu 37 4 17819684 17819684 + Missense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr4:17819684C>T uc003gpp.2 + 7 1267 c.1091C>T c.(1090-1092)CCT>CTT p.P364L NCAPG_uc011bxj.1_5'UTR NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 364 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) TTGCCAGAGCCTGTAGTATAT 0.368 UGT2B10 7365 broad.mit.edu 37 4 69870669 69870669 + Missense_Mutation SNP C A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr4:69870669C>A uc011cao.1 - 9 1517 c.1381G>T c.(1381-1383)GCT>TCT p.A461S UGT2B10_uc011can.1_Missense_Mutation_p.A377S P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 498 Helical; (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GCCACACAGGCCAGCAGGAAC 0.448 ENAM 10117 broad.mit.edu 37 4 71508380 71508380 + Missense_Mutation SNP G T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr4:71508380G>T uc011caw.1 + 9 1518 c.1237G>T c.(1237-1239)GTA>TTA p.V413L NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 413 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) TAAACACCCTGTAGGAACTAC 0.468 HEATR7B2 133558 broad.mit.edu 37 5 41009468 41009468 + Missense_Mutation SNP C G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr5:41009468C>G uc003jmj.3 - 32 3824 c.3334G>C c.(3334-3336)GCC>CCC p.A1112P HEATR7B2_uc003jmi.3_Missense_Mutation_p.A667P NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1112 HEAT 12. binding ovary(6)|central_nervous_system(2) 8 CCACTGGAGGCTGGCTTTTCA 0.498 PCDHGA3 56112 broad.mit.edu 37 5 140724302 140724302 + Missense_Mutation SNP T G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr5:140724302T>G uc003ljm.1 + 1 702 c.702T>G c.(700-702)GAT>GAG p.D234E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.D234E NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 234 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGTCCTGGATGCAAATGACA 0.527 PCDHGB4 8641 broad.mit.edu 37 5 140768648 140768648 + Silent SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr5:140768648G>A uc003lkc.1 + 1 1197 c.1197G>A c.(1195-1197)ACG>ACA p.T399T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.T399T NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 399 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGAAACACGTATAAATTAG 0.433 RNF130 55819 broad.mit.edu 37 5 179390508 179390508 + Missense_Mutation SNP T G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr5:179390508T>G uc003mll.1 - 8 1614 c.1207A>C c.(1207-1209)ATG>CTG p.M403L RNF130_uc003mlm.1_Intron NM_018434 NP_060904 Q86XS8 GOLI_HUMAN ring finger protein 130 precursor 403 Cytoplasmic (Potential). apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding lung(2)|ovary(1) 3 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGATGATCATGTAGCAGAGT 0.443 TRIM7 81786 broad.mit.edu 37 5 180625194 180625194 + Missense_Mutation SNP T A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr5:180625194T>A uc003mmz.1 - 6 1080 c.1013A>T c.(1012-1014)AAA>ATA p.K338I TRIM7_uc003mmv.1_Missense_Mutation_p.K156I|TRIM7_uc003mmw.1_Missense_Mutation_p.K130I|TRIM7_uc003mmx.1_Missense_Mutation_p.K130I|TRIM7_uc003mmy.1_Missense_Mutation_p.K130I NM_203293 NP_976038 Q9C029 TRIM7_HUMAN tripartite motif-containing 7 isoform 1 338 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) TTTCTCCTCTTTCTCCAGCTC 0.517 LY6G6C 80740 broad.mit.edu 37 6 31687971 31687971 + Missense_Mutation SNP C A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr6:31687971C>A uc003nwh.2 - 2 116 c.62G>T c.(61-63)CGC>CTC p.R21L LY6G6C_uc010jtd.2_RNA NM_025261 NP_079537 O95867 LY66C_HUMAN lymphocyte antigen 6 complex G6C precursor 21 UPAR/Ly6. anchored to membrane|plasma membrane 0 GGAGTGACAGCGAATGTCAGC 0.592 DNAH8 1769 broad.mit.edu 37 6 38805720 38805720 + Silent SNP C A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr6:38805720C>A uc003ooe.1 + 31 4317 c.3717C>A c.(3715-3717)GCC>GCA p.A1239A NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TGTTACAGGCCAGTTTCGATG 0.264 TAAR1 134864 broad.mit.edu 37 6 132966395 132966395 + Missense_Mutation SNP C G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr6:132966395C>G uc003qdm.1 - 1 748 c.748G>C c.(748-750)GTG>CTG p.V250L NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 250 Cytoplasmic (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) AATGTCTTCACAGCTTTCCTT 0.393 C6orf211 79624 broad.mit.edu 37 6 151789913 151789913 + Missense_Mutation SNP A C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr6:151789913A>C uc003qok.1 + 5 1253 c.994A>C c.(994-996)AAT>CAT p.N332H C6orf211_uc011ees.1_Missense_Mutation_p.N213H NM_024573 NP_078849 Q9H993 CF211_HUMAN hypothetical protein LOC79624 332 protein binding 0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) GGTTTACCACAATCATATATT 0.383 MRPL32 64983 broad.mit.edu 37 7 42977023 42977023 + Nonsense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr7:42977023C>T uc003tia.2 + 3 462 c.415C>T c.(415-417)CGA>TGA p.R139* MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Nonsense_Mutation_p.R86* NM_031903 NP_114109 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 precursor 139 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome 0 AGAAATCAGACGACAGATAGG 0.493 MYO1G 64005 broad.mit.edu 37 7 45016575 45016575 + Missense_Mutation SNP G C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr7:45016575G>C uc003tmh.2 - 2 335 c.191C>G c.(190-192)GCC>GGC p.A64G MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 64 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 CTGGTACCTGGCGATGGCCTC 0.627 FZD1 8321 broad.mit.edu 37 7 90895152 90895152 + Silent SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr7:90895152G>A uc003ula.2 + 1 1370 c.957G>A c.(955-957)TCG>TCA p.S319S NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 319 Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TGCGCTTCTCGCGCACCTGGA 0.617 TAF6 6878 broad.mit.edu 37 7 99705016 99705016 + Silent SNP A G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr7:99705016A>G uc003uti.2 - 15 1968 c.1887T>C c.(1885-1887)CCT>CCC p.P629P AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Silent_p.P551P|TAF6_uc003uth.2_Silent_p.P686P|TAF6_uc003utk.2_Silent_p.P629P|TAF6_uc011kji.1_Silent_p.P666P|TAF6_uc003utj.2_Silent_p.P619P|TAF6_uc003utl.2_Silent_p.P619P|TAF6_uc003utm.2_Silent_p.P629P NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 629 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATGCCGGGGGAGGAACTGGAG 0.647 ZCWPW1 55063 broad.mit.edu 37 7 100017408 100017408 + Missense_Mutation SNP C A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr7:100017408C>A uc003uut.2 - 4 375 c.127G>T c.(127-129)GGG>TGG p.G43W ZCWPW1_uc011kjq.1_5'Flank|ZCWPW1_uc003uur.2_5'Flank|ZCWPW1_uc003uus.2_5'UTR|ZCWPW1_uc011kjr.1_Missense_Mutation_p.G42W|ZCWPW1_uc003uuu.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kjs.1_5'Flank|ZCWPW1_uc011kjt.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kju.1_Missense_Mutation_p.G42W NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 43 zinc ion binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAACTGATCCCCGGGGTCTCC 0.493 KCNU1 157855 broad.mit.edu 37 8 36766969 36766969 + Missense_Mutation SNP G T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr8:36766969G>T uc010lvw.2 + 21 2334 c.2247G>T c.(2245-2247)AAG>AAT p.K749N KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 749 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AGGAGCTGAAGGACATAGTGT 0.458 FGFR1 2260 broad.mit.edu 37 8 38282202 38282202 + Missense_Mutation SNP C A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr8:38282202C>A uc003xlp.2 - 7 1703 c.761G>T c.(760-762)CGG>CTG p.R254L FGFR1_uc011lbo.1_Missense_Mutation_p.R252L|FGFR1_uc011lbp.1_Missense_Mutation_p.R165L|FGFR1_uc011lbq.1_Missense_Mutation_p.R163L|FGFR1_uc010lwk.2_Missense_Mutation_p.R246L|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.R94L|FGFR1_uc011lbt.1_Missense_Mutation_p.R163L|FGFR1_uc011lbu.1_Missense_Mutation_p.R285L|FGFR1_uc011lbv.1_Missense_Mutation_p.R252L|FGFR1_uc011lbw.1_Missense_Mutation_p.R165L|FGFR1_uc011lbx.1_Missense_Mutation_p.R165L|FGFR1_uc003xlv.2_Missense_Mutation_p.R165L|FGFR1_uc003xlu.2_Missense_Mutation_p.R163L NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 254 Extracellular (Potential). R -> Q (in KAL2). axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CAGGATGGGCCGGTGAGGGGA 0.612 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome FNTA 2339 broad.mit.edu 37 8 42927324 42927324 + Missense_Mutation SNP G C C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr8:42927324G>C uc003xps.2 + 5 555 c.507G>C c.(505-507)TGG>TGC p.W169C FNTA_uc003xpt.2_Missense_Mutation_p.W78C|FNTA_uc003xpu.2_Missense_Mutation_p.W102C|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 169 PFTA 2. cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TGGGCTTTAGGCATCATAGGC 0.368 PXDNL 137902 broad.mit.edu 37 8 52339264 52339264 + Missense_Mutation SNP T G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr8:52339264T>G uc003xqu.3 - 13 1681 c.1580A>C c.(1579-1581)AAT>ACT p.N527T NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 527 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AATGTTTATATTCTTTCCAAC 0.338 UBXN2B 137886 broad.mit.edu 37 8 59345800 59345800 + Missense_Mutation SNP G T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr8:59345800G>T uc003xtl.2 + 4 543 c.421G>T c.(421-423)GAT>TAT p.D141Y NM_001077619 NP_001071087 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 141 SEP. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus ovary(2) 2 TCAGCTGCAAGATGTAGGTAC 0.284 LRRCC1 85444 broad.mit.edu 37 8 86047170 86047170 + Missense_Mutation SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr8:86047170C>T uc003ycw.2 + 13 2211 c.2057C>T c.(2056-2058)TCC>TTC p.S686F LRRCC1_uc010maa.1_Missense_Mutation_p.S387F|LRRCC1_uc003ycx.2_Missense_Mutation_p.S593F|LRRCC1_uc003ycy.2_Missense_Mutation_p.S666F NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 686 cell division|mitosis centriole|nucleus 0 AATGAGTCTTCCTCTTTAATT 0.333 GRHL2 79977 broad.mit.edu 37 8 102649132 102649132 + Missense_Mutation SNP A G G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr8:102649132A>G uc010mbu.2 + 12 1823 c.1493A>G c.(1492-1494)TAC>TGC p.Y498C NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 498 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CAGGTGTATTACAACACGGAT 0.408 PLEC 5339 broad.mit.edu 37 8 144996426 144996426 + Silent SNP C T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr8:144996426C>T uc003zaf.1 - 32 8144 c.7974G>A c.(7972-7974)CAG>CAA p.Q2658Q PLEC_uc003zab.1_Silent_p.Q2521Q|PLEC_uc003zac.1_Silent_p.Q2525Q|PLEC_uc003zad.2_Silent_p.Q2521Q|PLEC_uc003zae.1_Silent_p.Q2489Q|PLEC_uc003zag.1_Silent_p.Q2499Q|PLEC_uc003zah.2_Silent_p.Q2507Q|PLEC_uc003zaj.2_Silent_p.Q2548Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2658 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCACCTCGTCCTGGAAGAGCT 0.488 FOXD4L5 653427 broad.mit.edu 37 9 70177706 70177706 + Missense_Mutation SNP G A A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chr9:70177706G>A uc010moc.2 - 1 1110 c.278C>T c.(277-279)CCG>CTG p.P93L NM_001126334 NP_001119806 Q5VV16 FX4L5_HUMAN forkhead box D4-like 5 93 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development 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 activator activity|transcription factor binding 0 AGACCTTGGCGGTGCCCTGAA 0.682 EIF2S3 1968 broad.mit.edu 37 X 24075581 24075581 + Missense_Mutation SNP A T T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 4943e80a-d098-49cd-8261-1d53d42f8223 82ac95da-c623-4483-b2bd-300548e31e13 g.chrX:24075581A>T uc004dbc.2 + 3 198 c.177A>T c.(175-177)AAA>AAT p.K59N NM_001415 NP_001406 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, 59 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity lung(1) 1 CAGTCGTCAAAGCTATTTCTG 0.328