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 CAMTA1 23261 broad.mit.edu 37 1 7737720 7737720 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:7737720G>A uc001aoi.2 + 11 3048 c.2841G>A c.(2839-2841)TCG>TCA p.S947S CAMTA1_uc010nzv.1_Silent_p.S34S|CAMTA1_uc001aok.3_5'Flank NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 947 IPT/TIG. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCTCCAACTCGGTGGTGTTTG 0.552000 ZMYM1 79830 broad.mit.edu 37 1 35570337 35570337 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:35570337T>G uc001bym.2 + 7 922 c.774T>G c.(772-774)TTT>TTG p.F258L ZMYM1_uc009vus.1_RNA|ZMYM1_uc001byn.2_Missense_Mutation_p.F258L|ZMYM1_uc010ohu.1_Missense_Mutation_p.F258L|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Missense_Mutation_p.F183L NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 258 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTCATTACTTTAATAGTTCAA 0.378000 CAP1 10487 broad.mit.edu 37 1 40535894 40535894 + Missense_Mutation SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:40535894A>T uc001cfa.3 + 10 1286 c.1057A>T c.(1057-1059)ATA>TTA p.I353L CAP1_uc001cey.3_Missense_Mutation_p.I353L|CAP1_uc001cez.3_Missense_Mutation_p.I353L|CAP1_uc009vvz.2_Missense_Mutation_p.I353L|CAP1_uc010oje.1_Missense_Mutation_p.I270L NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 353 C-CAP/cofactor C-like. activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGTGGCTTACATATACAAGTG 0.458000 INSL5 10022 broad.mit.edu 37 1 67266854 67266854 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:67266854G>C uc001dcw.2 - 1 86 c.51C>G c.(49-51)ATC>ATG p.I17M NM_005478 NP_005469 Q9Y5Q6 INSL5_HUMAN insulin-like 5 precursor 17 extracellular region hormone activity 0 GCACTTCTGAGATGGCAAATA 0.433000 LRRC7 57554 broad.mit.edu 37 1 70555456 70555456 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:70555456G>A uc001dep.2 + 23 4415 c.4385G>A c.(4384-4386)AGT>AAT p.S1462N LRRC7_uc009wbg.2_Missense_Mutation_p.S746N|LRRC7_uc001deq.2_Missense_Mutation_p.S656N NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1462 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTTAGTATCAGTGGTGGAATT 0.299000 HFM1 164045 broad.mit.edu 37 1 91784848 91784848 + Splice_Site SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:91784848A>G uc001doa.3 - 24 2780 c.2680_splice c.e24+1 p.W894_splice HFM1_uc009wdb.2_Splice_Site|HFM1_uc010osu.1_Splice_Site_p.W573_splice|HFM1_uc001dob.3_Splice_Site_p.C126_splice|HFM1_uc010osv.1_Splice_Site_p.W578_splice NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CCTGTAACATACATCTTGTAA 0.333000 TMEM56 148534 broad.mit.edu 37 1 95639441 95639441 + Nonsense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:95639441C>T uc001drb.2 + 6 760 c.469C>T c.(469-471)CAG>TAG p.Q157* RWDD3_uc001drd.3_Nonsense_Mutation_p.Q157*|uc001dre.1_Intron|TMEM56_uc001drc.2_Nonsense_Mutation_p.Q157* NM_152487 NP_689700 Q96MV1 TMM56_HUMAN transmembrane protein 56 157 TLC. integral to membrane 0 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) GTTTGTGAATCAGCGGTATGT 0.368000 VAV3 10451 broad.mit.edu 37 1 108313276 108313276 + Silent SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:108313276A>C uc001dvk.1 - 6 684 c.630T>G c.(628-630)ACT>ACG p.T210T VAV3_uc010ouw.1_Silent_p.T210T|VAV3_uc001dvl.1_Silent_p.T34T|VAV3_uc010oux.1_Silent_p.T210T NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 210 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTGACTCCAAAGTTTCTGTAT 0.303000 SLC6A17 388662 broad.mit.edu 37 1 110714822 110714822 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:110714822G>A uc009wfq.2 + 3 888 c.427G>A c.(427-429)GGC>AGC p.G143S NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 143 Cytoplasmic (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GGGGGGCATCGGCTTCTCCAG 0.642000 GJA8 2703 broad.mit.edu 37 1 147380926 147380926 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:147380926A>C uc001epu.1 + 2 907 c.844A>C c.(844-846)ACC>CCC p.T282P NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 282 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) TTTCCCCTTGACCGAGGTTGG 0.547000 MCL1 4170 broad.mit.edu 37 1 150550743 150550743 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:150550743A>C uc001euz.2 - 2 1043 c.913T>G c.(913-915)TGG>GGG p.W305G MCL1_uc010pch.1_Missense_Mutation_p.W195G|MCL1_uc001eva.2_Intron NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 305 BH2. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TTAACTAGCCAGTCCCGTTTT 0.433000 POGZ 23126 broad.mit.edu 37 1 151378488 151378488 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:151378488C>T uc001eyd.1 - 19 3329 c.3023G>A c.(3022-3024)CGA>CAA p.R1008Q POGZ_uc001eye.1_Missense_Mutation_p.R955Q|POGZ_uc010pdb.1_Missense_Mutation_p.R999Q|POGZ_uc001eyf.1_Missense_Mutation_p.R964Q|POGZ_uc010pdc.1_Missense_Mutation_p.R946Q|POGZ_uc009wmv.1_Missense_Mutation_p.R913Q|POGZ_uc010pdd.1_Missense_Mutation_p.R499Q NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1008 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTGGAAACGTCGAAGCCAACG 0.522000 FCGR2A 2212 broad.mit.edu 37 1 161480730 161480730 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:161480730G>A uc001gan.2 + 5 779 c.726G>A c.(724-726)AGG>AGA p.R242R FCGR2A_uc001gam.2_Silent_p.R241R|FCGR2A_uc001gao.2_RNA NM_001136219 NP_001129691 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor 242 Cytoplasmic (Potential). integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTACTGCAGGAAAAAGCGGA 0.522000 TNN 63923 broad.mit.edu 37 1 175067563 175067563 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:175067563G>A uc001gkl.1 + 9 2064 c.1951G>A c.(1951-1953)GTG>ATG p.V651M TNN_uc010pmx.1_Missense_Mutation_p.V562M NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 651 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGACAAGTACGTGGTGCGCTA 0.597000 HMCN1 83872 broad.mit.edu 37 1 186056429 186056429 + Nonsense_Mutation SNP G G T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:186056429G>T uc001grq.1 + 59 9356 c.9127G>T c.(9127-9129)GAA>TAA p.E3043* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3043 Ig-like C2-type 28. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCAAGCTGGCGAAAGCAAGAA 0.353000 CABC1 56997 broad.mit.edu 37 1 227165157 227165157 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:227165157C>T uc001hqm.1 + 10 4082 c.663C>T c.(661-663)GCC>GCT p.A221A CABC1_uc001hqn.1_Silent_p.A221A|CABC1_uc009xeq.1_Silent_p.A169A|CABC1_uc010pvq.1_5'UTR|CABC1_uc010pvr.1_5'UTR|CABC1_uc001hqo.1_5'UTR NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 221 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) CAGGTCTGGCCGTGGGCCTGG 0.716000 WNT9A 7483 broad.mit.edu 37 1 228111927 228111927 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:228111927C>A uc001hri.2 - 3 615 c.527G>T c.(526-528)AGC>ATC p.S176I NM_003395 NP_003386 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, 176 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|pancreas(1) 2 Prostate(94;0.0405) GACGAACTTGCTGCTGTACTT 0.592000 CAMK1D 57118 broad.mit.edu 37 10 12803037 12803037 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:12803037C>T uc001ilo.2 + 4 625 c.390C>T c.(388-390)GAC>GAT p.D130D CAMK1D_uc001iln.2_Silent_p.D130D NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 130 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) AAGTCTTGGACGCCGTGTACT 0.557000 CUBN 8029 broad.mit.edu 37 10 17126401 17126401 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:17126401A>C uc001ioo.2 - 17 2222 c.2170T>G c.(2170-2172)TTG>GTG p.L724V NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 724 CUB 3. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGCCCAGACAACTCAGGCAAG 0.517000 MYO3A 53904 broad.mit.edu 37 10 26463195 26463195 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:26463195G>A uc001isn.2 + 30 4362 c.4002G>A c.(4000-4002)AGG>AGA p.R1334R MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1334 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 TCAAAGAGAGGCAAGTTGAAC 0.502000 KIAA1462 57608 broad.mit.edu 37 10 30318057 30318057 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:30318057G>A uc001iux.2 - 2 1079 c.1020C>T c.(1018-1020)TAC>TAT p.Y340Y KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.Y202Y|KIAA1462_uc009xle.1_Silent_p.Y340Y NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 340 Pro-rich. ovary(4) 4 GCGGAGGCACGTACACTGGAG 0.587000 SAMD8 142891 broad.mit.edu 37 10 76935972 76935972 + Missense_Mutation SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:76935972A>T uc001jwx.1 + 5 1044 c.941A>T c.(940-942)GAA>GTA p.E314V SAMD8_uc001jwy.1_Missense_Mutation_p.E314V NM_144660 NP_653261 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 314 sphingomyelin biosynthetic process integral to membrane 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TTTGTCACCGAATGTAAGTAT 0.453000 TLL2 7093 broad.mit.edu 37 10 98192670 98192670 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:98192670G>A uc001kml.1 - 4 640 c.414C>T c.(412-414)GCC>GCT p.A138A TLL2_uc009xvf.1_Intron NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 138 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TCTTGGCTGCGGCATGCAAGG 0.552000 RRP12 23223 broad.mit.edu 37 10 99116858 99116858 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:99116858C>T uc001knf.2 - 34 4026 c.3887G>A c.(3886-3888)CGA>CAA p.R1296Q RRP12_uc001kne.2_Missense_Mutation_p.R311Q|RRP12_uc009xvl.2_Missense_Mutation_p.R413Q|RRP12_uc009xvm.2_Missense_Mutation_p.R1014Q|RRP12_uc010qou.1_Missense_Mutation_p.R1235Q|RRP12_uc009xvn.2_Missense_Mutation_p.R1196Q NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 1296 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GCCTCAGGGTCGACGATCCTT 0.622000 RRP12 23223 broad.mit.edu 37 10 99133605 99133605 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:99133605G>A uc001knf.2 - 16 1984 c.1845C>T c.(1843-1845)TAC>TAT p.Y615Y RRP12_uc009xvl.2_5'Flank|RRP12_uc009xvm.2_Silent_p.Y333Y|RRP12_uc010qou.1_Silent_p.Y554Y|RRP12_uc009xvn.2_Silent_p.Y515Y NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 615 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GGAGTGTGTCGTAGATCTTAG 0.607000 PDCD11 22984 broad.mit.edu 37 10 105172893 105172893 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:105172893C>T uc001kwy.1 + 9 1086 c.999C>T c.(997-999)TGC>TGT p.C333C NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 333 S1 motif 3. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GCATCCTTTGCGTCCATCCTC 0.597000 GPR26 2849 broad.mit.edu 37 10 125426323 125426323 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:125426323G>A uc001lhh.2 + 1 453 c.400G>A c.(400-402)GCG>ACG p.A134T NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 134 Helical; Name=4; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) GTGGCTGCACGCGCTCACCTT 0.716000 LRRC27 80313 broad.mit.edu 37 10 134165209 134165209 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:134165209C>T uc010quw.1 + 7 1220 c.1025C>T c.(1024-1026)GCG>GTG p.A342V LRRC27_uc001llf.2_Missense_Mutation_p.R374C|LRRC27_uc010quv.1_Missense_Mutation_p.A342V|LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.A342V|LRRC27_uc001llj.2_Missense_Mutation_p.A280V|LRRC27_uc001llk.3_Missense_Mutation_p.A215V NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a 342 Potential. 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) CGAGCGGCGGCGCTCCGAGAG 0.622000 PAOX 196743 broad.mit.edu 37 10 135204907 135204907 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr10:135204907G>A uc001lmv.2 + 7 1564 c.1484G>A c.(1483-1485)CGC>CAC p.R495H PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.P442P|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 633 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GAGGCCGACCGCCTCCTCAGT 0.662000 OR51D1 390038 broad.mit.edu 37 11 4661487 4661487 + Missense_Mutation SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:4661487A>T uc010qyk.1 + 1 467 c.467A>T c.(466-468)AAG>ATG p.K156M NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTGTGGCCAAGATTGGACTA 0.537000 OR52J3 119679 broad.mit.edu 37 11 5068233 5068233 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:5068233C>T uc010qyv.1 + 1 478 c.478C>T c.(478-480)CCC>TCC p.P160S NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTTACACTTCCCATGGTCTA 0.468000 OR52E4 390081 broad.mit.edu 37 11 5905690 5905690 + Silent SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:5905690T>C uc010qzs.1 + 1 168 c.168T>C c.(166-168)AGT>AGC p.S56S TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 56 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGAACATAGTCTACACCAGC 0.418000 CNGA4 1262 broad.mit.edu 37 11 6265440 6265440 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:6265440A>C uc001mco.2 + 6 1636 c.1529A>C c.(1528-1530)AAG>ACG p.K510T CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 510 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTACAGACCAAGTTTGCTCGC 0.587000 NELL1 4745 broad.mit.edu 37 11 21594756 21594756 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:21594756T>G uc001mqe.2 + 19 2336 c.2183T>G c.(2182-2184)CTC>CGC p.L728R NELL1_uc001mqf.2_Missense_Mutation_p.L681R|NELL1_uc009yid.2_Missense_Mutation_p.L756R|NELL1_uc010rdo.1_Missense_Mutation_p.L671R|NELL1_uc010rdp.1_Missense_Mutation_p.L441R|NELL1_uc001mqh.2_Missense_Mutation_p.L273R NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 728 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TGCTGGCCACTCACTTGCCCC 0.443000 OR8H3 390152 broad.mit.edu 37 11 55890577 55890577 + Silent SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:55890577T>C uc001nii.1 + 1 729 c.729T>C c.(727-729)TCT>TCC p.S243S NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CTTGCGTCTCTCATCTCTTGG 0.403000 OR10W1 81341 broad.mit.edu 37 11 58034972 58034972 + Missense_Mutation SNP G G A rs144496337 byFrequency TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:58034972G>A uc001nmq.1 - 1 761 c.359C>T c.(358-360)CCG>CTG p.P120L NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 120 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GTACTGCAACGGGTGGCAAAT 0.537000 ORAOV1 220064 broad.mit.edu 37 11 69488060 69488060 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:69488060T>C uc001opc.2 - 2 238 c.80A>G c.(79-81)TAT>TGT p.Y27C ORAOV1_uc010rqi.1_Missense_Mutation_p.Y27C|ORAOV1_uc009ysm.2_RNA|ORAOV1_uc001opd.2_Intron|ORAOV1_uc001ope.1_Missense_Mutation_p.Y27C NM_153451 NP_703152 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 27 0 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GCCTTCTTCATAGCCTTCCCG 0.493000 BIRC2 329 broad.mit.edu 37 11 102221160 102221160 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:102221160A>G uc001pgy.2 + 2 1974 c.575A>G c.(574-576)CAT>CGT p.H192R BIRC2_uc010ruq.1_Missense_Mutation_p.H143R|BIRC2_uc010rur.1_Missense_Mutation_p.H192R NM_001166 NP_001157 Q13490 BIRC2_HUMAN baculoviral IAP repeat-containing protein 2 192 BIR 2. cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) CTTACCTACCATATGTGGCCA 0.428000 GRIA4 2893 broad.mit.edu 37 11 105795340 105795340 + Silent SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:105795340A>C uc001pix.2 + 12 2138 c.1692A>C c.(1690-1692)CTA>CTC p.L564L GRIA4_uc001piw.2_Silent_p.L564L NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 564 Helical; (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCTTATTCCTAGTTAGTAGAT 0.468000 OR8D2 283160 broad.mit.edu 37 11 124189172 124189172 + Silent SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr11:124189172T>G uc010sah.1 - 1 922 c.922A>C c.(922-924)AGG>CGG p.R308R NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GATGACTGCCTTCCCCTAGTC 0.398000 CLEC2D 29121 broad.mit.edu 37 12 9847417 9847417 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr12:9847417A>G uc001qwg.1 + 5 545 c.523A>G c.(523-525)AGG>GGG p.R175G CLEC2D_uc001qwf.1_3'UTR|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_3'UTR NM_013269 NP_037401 Q9UHP7 CLC2D_HUMAN osteoclast inhibitory lectin isoform 1 175 Extracellular (Potential).|C-type lectin. cell surface receptor linked signaling pathway cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction sugar binding|transmembrane receptor activity 0 CAGTAGTGCCAGGCACTACAC 0.433000 KLRD1 3824 broad.mit.edu 37 12 10462015 10462015 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr12:10462015T>G uc001qxw.3 + 3 233 c.36T>G c.(34-36)ATT>ATG p.I12M KLRD1_uc001qxx.3_Missense_Mutation_p.I12M|KLRD1_uc001qxy.3_Intron|KLRD1_uc009zhh.2_Missense_Mutation_p.I12M|KLRD1_uc009zhi.2_Missense_Mutation_p.I12M|KLRD1_uc001qxz.3_Missense_Mutation_p.I12M NM_001114396 NP_001107868 Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, 12 Helical; Signal-anchor for type II membrane protein; (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 GGAGGTTAATTTCTGGGACCT 0.363000 PLCZ1 89869 broad.mit.edu 37 12 18841074 18841074 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr12:18841074C>A uc010sid.1 - 13 1731 c.1540G>T c.(1540-1542)GGT>TGT p.G514C PLCZ1_uc001rdv.3_Missense_Mutation_p.G410C|PLCZ1_uc001rdw.3_Missense_Mutation_p.G255C|PLCZ1_uc001rdu.1_Missense_Mutation_p.G296C|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 514 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTTGGAACACCAAAAACTTCT 0.333000 CEP290 80184 broad.mit.edu 37 12 88530428 88530428 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr12:88530428T>C uc001tar.2 - 6 777 c.433A>G c.(433-435)AAT>GAT p.N145D CEP290_uc009zsl.1_RNA NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 145 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 ACTTGCTCATTAACTTTCTTC 0.294000 P2RX2 22953 broad.mit.edu 37 12 133196330 133196330 + Nonsense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr12:133196330C>A uc001ukj.1 + 3 375 c.375C>A c.(373-375)TGC>TGA p.C125* P2RX2_uc001uki.1_Nonsense_Mutation_p.C125*|P2RX2_uc001ukk.1_Nonsense_Mutation_p.C125*|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Nonsense_Mutation_p.C125*|P2RX2_uc001uko.1_Intron NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 125 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) AGGGAACCTGCCCCGAGGTGA 0.721000 FREM2 341640 broad.mit.edu 37 13 39262883 39262883 + Silent SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr13:39262883T>C uc001uwv.2 + 1 1711 c.1402T>C c.(1402-1404)TTG>CTG p.L468L NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 468 Extracellular (Potential).|CSPG 2. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCCGCAAAACTTGGTCATCAG 0.587000 FREM2 341640 broad.mit.edu 37 13 39435669 39435669 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr13:39435669A>C uc001uwv.2 + 15 7930 c.7621A>C c.(7621-7623)AAG>CAG p.K2541Q FREM2_uc001uww.2_Missense_Mutation_p.K627Q NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2541 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AAACCTTATCAAGCTCACTGT 0.473000 PCDH17 27253 broad.mit.edu 37 13 58208116 58208116 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr13:58208116T>C uc001vhq.1 + 1 2328 c.1436T>C c.(1435-1437)CTT>CCT p.L479P PCDH17_uc010aec.1_Missense_Mutation_p.L479P NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 479 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CTCTACGTGCTTCAGGTGCAC 0.597000 CHD8 57680 broad.mit.edu 37 14 21861850 21861850 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr14:21861850C>T uc001was.1 - 32 5361 c.5267G>A c.(5266-5268)CGA>CAA p.R1756Q CHD8_uc001war.1_Missense_Mutation_p.R1652Q|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2035 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TGGGGTTGGTCGGCTCCTGGC 0.547000 POMT2 29954 broad.mit.edu 37 14 77751348 77751348 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr14:77751348G>A uc001xti.2 - 14 1722 c.1521C>T c.(1519-1521)TAC>TAT p.Y507Y POMT2_uc001xth.1_Silent_p.Y205Y NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 507 MIR 3. protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) TTTCTTTCAGGTATGGGGTGC 0.498000 NDN 4692 broad.mit.edu 37 15 23932080 23932080 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr15:23932080C>T uc001ywk.2 - 1 371 c.285G>A c.(283-285)CCG>CCA p.P95P NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 95 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CCAGCTGCGCCGGGGCTGGCG 0.677000 Prader-Willi_syndrome GRAMD2 196996 broad.mit.edu 37 15 72455726 72455726 + Silent SNP C C T rs139817220 TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr15:72455726C>T uc002atq.2 - 10 861 c.837G>A c.(835-837)CCG>CCA p.P279P GRAMD2_uc010bis.2_Silent_p.P279P|GRAMD2_uc010ukh.1_Silent_p.P73P NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 279 integral to membrane 0 GAGAGCAGTTCGGCATCTTCT 0.572000 SEMA4B 10509 broad.mit.edu 37 15 90771576 90771576 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr15:90771576C>T uc002boy.2 + 15 2498 c.2215C>T c.(2215-2217)CGG>TGG p.R739W SEMA4B_uc002boz.2_Missense_Mutation_p.R739W|SEMA4B_uc010uqd.1_Missense_Mutation_p.R577W|SEMA4B_uc002bpa.2_Missense_Mutation_p.R577W|SEMA4B_uc010bnv.1_Intron NM_020210 NP_064595 semaphorin 4B precursor ovary(1)|breast(1)|kidney(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) CTTGCTCTACCGGCACCGGAA 0.607000 ZSCAN10 84891 broad.mit.edu 37 16 3139328 3139328 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr16:3139328C>T uc002ctv.1 - 5 2030 c.1942G>A c.(1942-1944)GCG>ACG p.A648T ZSCAN10_uc002cty.1_Missense_Mutation_p.A309T|ZSCAN10_uc002ctw.1_Missense_Mutation_p.A566T|ZSCAN10_uc002ctx.1_Missense_Mutation_p.A576T NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 648 C2H2-type 12. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CGCAGATGCGCGTTGCGCCGG 0.711000 ZSCAN10 84891 broad.mit.edu 37 16 3140172 3140172 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr16:3140172C>G uc002ctv.1 - 5 1186 c.1098G>C c.(1096-1098)AAG>AAC p.K366N ZSCAN10_uc002cty.1_Missense_Mutation_p.K27N|ZSCAN10_uc002ctw.1_Missense_Mutation_p.K284N|ZSCAN10_uc002ctx.1_Missense_Mutation_p.K294N NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 366 C2H2-type 3. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TCAGCAGGTGCTTGCTCAGGT 0.697000 CORO7 79585 broad.mit.edu 37 16 4411080 4411080 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr16:4411080G>A uc002cwh.3 - 19 1901 c.1781C>T c.(1780-1782)ACG>ATG p.T594M CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.T594M|CORO7_uc002cwg.3_Missense_Mutation_p.T374M|CORO7_uc010uxh.1_Missense_Mutation_p.T576M|CORO7_uc010uxi.1_Missense_Mutation_p.T509M|CORO7_uc002cwi.1_Missense_Mutation_p.T374M|CORO7_uc010uxj.1_RNA NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 594 WD 6. cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 GATCTTCTCCGTGTGGCCTGG 0.622000 XPO6 23214 broad.mit.edu 37 16 28112970 28112970 + Missense_Mutation SNP C C T rs14672 TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr16:28112970C>T uc002dpa.1 - 23 3586 c.3085G>A c.(3085-3087)GTG>ATG p.V1029M XPO6_uc002dpb.1_Missense_Mutation_p.V1015M|XPO6_uc010vcp.1_Missense_Mutation_p.V1028M NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 1029 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 TGGAGCAGCACGTTCACAAAC 0.577000 CDH8 1006 broad.mit.edu 37 16 61761004 61761004 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr16:61761004G>A uc002eog.1 - 9 1782 c.1530C>T c.(1528-1530)CCC>CCT p.P510P CDH8_uc002eoh.2_Silent_p.P279P NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 510 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTACTTGGCCGGGTTTTCCAT 0.368000 CDH11 1009 broad.mit.edu 37 16 64981820 64981820 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr16:64981820G>A uc002eoi.2 - 13 2511 c.2077C>T c.(2077-2079)CGC>TGC p.R693C CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.R567C NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 693 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ATGTCTTTGCGGGGGATAAAT 0.488000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) GAS8 2622 broad.mit.edu 37 16 90099328 90099328 + Missense_Mutation SNP G G A rs141287302 TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr16:90099328G>A uc002fqi.1 + 4 613 c.491G>A c.(490-492)CGG>CAG p.R164Q GAS8_uc010vps.1_Missense_Mutation_p.R139Q|GAS8_uc002fqh.2_Missense_Mutation_p.R81Q|GAS8_uc010vpt.1_Missense_Mutation_p.R164Q|GAS8_uc010vpu.1_Missense_Mutation_p.R81Q|GAS8_uc010vpv.1_Missense_Mutation_p.R135Q|GAS8_uc010cjc.1_Missense_Mutation_p.R81Q|GAS8_uc010vpw.1_Missense_Mutation_p.R81Q|GAS8_uc002fqj.1_5'UTR NM_001481 NP_001472 O95995 GAS8_HUMAN growth arrest-specific 8 164 Microtubule-binding. negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) AAGAACCTGCGGCTGGTAGGT 0.448000 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and 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.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532000 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) TNFAIP1 7126 broad.mit.edu 37 17 26671447 26671447 + Missense_Mutation SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr17:26671447A>T uc002hax.1 + 7 791 c.772A>T c.(772-774)ACT>TCT p.T258S TNFAIP1_uc002hay.2_Missense_Mutation_p.T258S|TNFAIP1_uc010waf.1_Missense_Mutation_p.T154S NM_021137 NP_066960 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 258 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) ACTCTATGAGACTCCCCGCGT 0.572000 CNTNAP1 8506 broad.mit.edu 37 17 40837321 40837321 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr17:40837321G>A uc002iay.2 + 5 814 c.598G>A c.(598-600)GCC>ACC p.A200T CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 200 Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GGACGTGTTCGCCTTCAGCTT 0.642000 TMC8 147138 broad.mit.edu 37 17 76127802 76127802 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr17:76127802G>A uc002jup.2 + 2 515 c.133G>A c.(133-135)GAC>AAC p.D45N TMC6_uc010dhf.1_5'Flank|TMC6_uc002juk.2_5'Flank|TMC6_uc010dhg.1_5'Flank|TMC6_uc002jul.1_Intron|TMC6_uc002jun.3_5'Flank|TMC6_uc002juo.2_5'Flank|TMC6_uc010wtq.1_5'Flank|TMC8_uc010dhh.1_Missense_Mutation_p.D45N|TMC8_uc002juq.2_Intron|TMC8_uc010wtr.1_5'Flank NM_152468 NP_689681 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 45 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) TGCCATGATGGACAAGCGCCT 0.736000 Epidermodysplasia_Verruciformis_Familial_Clustering_of LAMA1 284217 broad.mit.edu 37 18 7043226 7043226 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr18:7043226T>G uc002knm.2 - 8 1249 c.1155A>C c.(1153-1155)AAA>AAC p.K385N LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 385 Laminin EGF-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATACTCTTACTTTGTGTGGTC 0.403000 DCC 1630 broad.mit.edu 37 18 50848502 50848502 + Silent SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr18:50848502A>T uc002lfe.1 + 14 2726 c.2139A>T c.(2137-2139)GCA>GCT p.A713A DCC_uc010xdr.1_Silent_p.A561A|DCC_uc010dpf.1_Silent_p.A368A NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 713 Extracellular (Potential).|Fibronectin type-III 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGTATACTGCAGAGACTCCAG 0.403000 CDH7 1005 broad.mit.edu 37 18 63530059 63530059 + Silent SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr18:63530059A>G uc002ljz.2 + 11 2095 c.1770A>G c.(1768-1770)GTA>GTG p.V590V CDH7_uc002lka.2_Silent_p.V590V|CDH7_uc002lkb.2_Silent_p.V590V NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 590 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) CTGACGGCGTAGCCCAGACCT 0.527000 ZNF407 55628 broad.mit.edu 37 18 72346747 72346747 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr18:72346747C>T uc002llw.2 + 1 3829 c.3772C>T c.(3772-3774)CGC>TGC p.R1258C ZNF407_uc010xfc.1_Missense_Mutation_p.R1258C|ZNF407_uc010dqu.1_Missense_Mutation_p.R1258C|ZNF407_uc002llu.2_Missense_Mutation_p.R1257C NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CGATGGGGAGCGCTCGGCTGA 0.577000 MUC16 94025 broad.mit.edu 37 19 9059857 9059857 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:9059857T>A uc002mkp.2 - 3 27793 c.27589A>T c.(27589-27591)ACC>TCC p.T9197S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9199 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGAACTGGTTTCAGGTTCT 0.498000 MUC16 94025 broad.mit.edu 37 19 9072191 9072191 + Silent SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:9072191T>G uc002mkp.2 - 3 15459 c.15255A>C c.(15253-15255)ACA>ACC p.T5085T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5087 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTTCCAAGCGTGTACGTAATA 0.433000 MUC16 94025 broad.mit.edu 37 19 9073279 9073279 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:9073279C>A uc002mkp.2 - 3 14371 c.14167G>T c.(14167-14169)GCA>TCA p.A4723S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4725 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGTTCATTGCAGTGGTTATT 0.483000 CHERP 10523 broad.mit.edu 37 19 16638979 16638979 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:16638979C>T uc002nei.1 - 9 1291 c.1217G>A c.(1216-1218)CGG>CAG p.R406Q MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_5'Flank NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 406 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 cccggggccccgggggccggc 0.507000 MRPL34 64981 broad.mit.edu 37 19 17416747 17416747 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:17416747G>C uc002ngc.1 + 1 271 c.46G>C c.(46-48)GCA>CCA p.A16P ABHD8_uc002ngb.3_5'Flank NM_023937 NP_076426 Q9BQ48 RM34_HUMAN mitochondrial ribosomal protein L34 precursor 16 translation structural constituent of ribosome 0 GAGTAGGTCGGCAGCGTTGCT 0.662000 CRTC1 23373 broad.mit.edu 37 19 18886480 18886480 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:18886480C>T uc002nkb.3 + 13 1630 c.1542C>T c.(1540-1542)GCC>GCT p.A514A CRTC1_uc010ebv.2_Silent_p.A530A|CRTC1_uc010ebw.2_Silent_p.A350A|CRTC1_uc002nkc.3_Silent_p.A212A NM_015321 NP_056136 Q6UUV9 CRTC1_HUMAN mucoepidermoid carcinoma translocated 1 isoform 514 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1) 519 TGGAGAACGCCATCAGCTCCA 0.677000 ZNF493 284443 broad.mit.edu 37 19 21606384 21606384 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:21606384T>A uc002npx.2 + 2 819 c.539T>A c.(538-540)CTT>CAT p.L180H ZNF493_uc002npw.2_Missense_Mutation_p.L308H|ZNF493_uc002npy.2_Missense_Mutation_p.L180H NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 180 C2H2-type 6; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTTCAACCCTTACTGGACAT 0.328000 ZNF43 7594 broad.mit.edu 37 19 22002007 22002007 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:22002007A>G uc002nqj.2 - 2 150 c.20T>C c.(19-21)ATG>ACG p.M7T ZNF43_uc010ecv.2_Missense_Mutation_p.M1T|ZNF43_uc002nql.2_Missense_Mutation_p.M1T|ZNF43_uc002nqm.2_Missense_Mutation_p.M1T|ZNF43_uc002nqk.2_Intron NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 7 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGCCACATCCATAAATGTCAA 0.393000 TSHZ3 57616 broad.mit.edu 37 19 31768179 31768179 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:31768179G>A uc002nsy.3 - 2 2585 c.2520C>T c.(2518-2520)CGC>CGT p.R840R NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 840 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) AGGCATTCTCGCGTAGCGGCG 0.522000 ZNF382 84911 broad.mit.edu 37 19 37117123 37117123 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:37117123A>C uc002oek.2 + 5 437 c.324A>C c.(322-324)AAA>AAC p.K108N ZNF382_uc010efa.2_Missense_Mutation_p.K59N|ZNF382_uc010efb.2_Missense_Mutation_p.K107N|ZNF382_uc002oel.2_Missense_Mutation_p.K107N NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 108 Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ACCACAAAAAACTAATTAAGG 0.328000 ERF 2077 broad.mit.edu 37 19 42753425 42753425 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:42753425G>A uc002ote.3 - 4 997 c.839C>T c.(838-840)TCG>TTG p.S280L ERF_uc002otd.3_Missense_Mutation_p.S11L NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 280 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) CAGCGTGGGCGAGGGAGTGTA 0.692000 BCAT2 587 broad.mit.edu 37 19 49310309 49310309 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:49310309G>A uc002pkr.2 - 2 84 c.47C>T c.(46-48)TCT>TTT p.S16F BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.S16F|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA NM_001190 NP_001181 O15382 BCAT2_HUMAN branched chain aminotransferase 2, mitochondrial 16 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity ovary(1) 1 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) CCAAGGGACAGAGAGAAGCTT 0.597000 KLK4 9622 broad.mit.edu 37 19 51411894 51411894 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:51411894G>A uc002pua.1 - 3 416 c.416C>T c.(415-417)TCG>TTG p.S139L KLK4_uc002pty.1_Missense_Mutation_p.S90L|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Missense_Mutation_p.S44L|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_Missense_Mutation_p.S44L|KLK4_uc002pud.1_Missense_Mutation_p.S44L NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 preproprotein 139 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) AGGGCACTGCGAAGCAATGCT 0.587000 SIGLEC10 89790 broad.mit.edu 37 19 51920007 51920007 + Nonsense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr19:51920007G>A uc002pwo.2 - 3 1235 c.619C>T c.(619-621)CAG>TAG p.Q207* SIGLEC10_uc002pwp.2_Nonsense_Mutation_p.Q149*|SIGLEC10_uc002pwq.2_Nonsense_Mutation_p.Q149*|SIGLEC10_uc002pwr.2_Nonsense_Mutation_p.Q207*|SIGLEC10_uc010ycy.1_Nonsense_Mutation_p.Q207*|SIGLEC10_uc010ycz.1_Nonsense_Mutation_p.Q159*|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Nonsense_Mutation_p.Q133* NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 207 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TTGTGGTCCTGGGGTCTGGGC 0.617000 TAF1B 9014 broad.mit.edu 37 2 10059894 10059894 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:10059894T>G uc002qzz.2 + 14 1610 c.1510T>G c.(1510-1512)TCA>GCA p.S504A TAF1B_uc002qzy.3_Missense_Mutation_p.S504A|TAF1B_uc010yja.1_Missense_Mutation_p.S249A|TAF1B_uc010exd.2_Missense_Mutation_p.S249A NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 504 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GAAAGGCCAATCACTGCTGAC 0.388000 C2orf16 84226 broad.mit.edu 37 2 27801239 27801239 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:27801239C>T uc002rkz.3 + 1 1851 c.1800C>T c.(1798-1800)ATC>ATT p.I600I NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 600 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CCCTTCAAATCGTAAAATCTG 0.393000 TGFBRAP1 9392 broad.mit.edu 37 2 105924384 105924384 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:105924384G>A uc002tcq.2 - 2 459 c.375C>T c.(373-375)AAC>AAT p.N125N TGFBRAP1_uc002tcr.3_Silent_p.N125N NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 125 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 CAGGGTTCTCGTTCAGTGCAA 0.567000 C2orf40 84417 broad.mit.edu 37 2 106694260 106694260 + Nonsense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:106694260C>T uc010fjf.2 + 4 433 c.325C>T c.(325-327)CGA>TGA p.R109* NM_032411 NP_115787 Q9H1Z8 AUGN_HUMAN esophageal cancer related gene 4 protein 109 extracellular region|transport vesicle 0 TAACAGAGATCGAAATGGACA 0.453000 CNTNAP5 129684 broad.mit.edu 37 2 125262112 125262112 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:125262112C>T uc002tno.2 + 8 1667 c.1303C>T c.(1303-1305)CGC>TGC p.R435C CNTNAP5_uc010flu.2_Missense_Mutation_p.R436C NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 435 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AATGACAGAACGCGTAGCTGA 0.507000 LRP1B 53353 broad.mit.edu 37 2 141108422 141108422 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:141108422T>C uc002tvj.1 - 77 12808 c.11836A>G c.(11836-11838)ATT>GTT p.I3946V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3946 Extracellular (Potential).|LDL-receptor class B 33. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGTAGAAAATTCCGCCTGGA 0.333000 TSP Lung(27;0.18) ZEB2 9839 broad.mit.edu 37 2 145156170 145156170 + Silent SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:145156170A>G uc002tvu.2 - 8 3064 c.2584T>C c.(2584-2586)TTG>CTG p.L862L ZEB2_uc002tvv.2_Silent_p.L856L|ZEB2_uc010zbm.1_Silent_p.L833L|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.L891L NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 862 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) ATAAAAGTCAAGTTCAGAGGC 0.348000 RBM43 375287 broad.mit.edu 37 2 152107515 152107515 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:152107515G>A uc002txh.2 - 4 1127 c.979C>T c.(979-981)CTT>TTT p.L327F NM_198557 NP_940959 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 327 nucleotide binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) GTCCTATAAAGGTTAATCAGG 0.328000 SCN1A 6323 broad.mit.edu 37 2 166901827 166901827 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:166901827G>A uc010zcz.1 - 10 1406 c.1388C>T c.(1387-1389)ACG>ATG p.T463M SCN1A_uc002udo.3_Missense_Mutation_p.T332M|SCN1A_uc010fpk.2_Missense_Mutation_p.T332M NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 463 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGCAGTTGCCGTTGCTGCCTG 0.443000 GAD1 2571 broad.mit.edu 37 2 171687619 171687619 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:171687619A>C uc002ugi.2 + 5 886 c.464A>C c.(463-465)AAC>ACC p.N155T GAD1_uc002ugh.2_Missense_Mutation_p.N155T NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 155 N -> T (in Ref. 6; AAB26938). glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GAGGGCTTCAACTTGGAGCTC 0.542000 TTN 7273 broad.mit.edu 37 2 179578722 179578722 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:179578722T>G uc010zfg.1 - 89 23155 c.22931A>C c.(22930-22932)AAG>ACG p.K7644T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4305T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8571 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K7644R(1) 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) ATTGATGATCTTAAGGCCGGA 0.443000 TTN 7273 broad.mit.edu 37 2 179604456 179604456 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:179604456T>G uc010zfh.1 - 46 13215 c.12991A>C c.(12991-12993)AGT>CGT p.S4331R TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.S4264R|TTN_uc010zfj.1_Missense_Mutation_p.S4139R|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 4256 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) TCTTGCAAACTTGTTTTGGCT 0.388000 ITGAV 3685 broad.mit.edu 37 2 187466848 187466848 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:187466848C>T uc002upq.2 + 2 562 c.286C>T c.(286-288)CGG>TGG p.R96W ITGAV_uc010frs.2_Missense_Mutation_p.R96W|ITGAV_uc010zfv.1_Missense_Mutation_p.R50W NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 96 FG-GAP 1.|Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TTCTACCCGCCGGTGCCAGCC 0.433000 AOX1 316 broad.mit.edu 37 2 201485953 201485953 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:201485953T>C uc002uvx.2 + 18 2086 c.1985T>C c.(1984-1986)TTT>TCT p.F662S AOX1_uc010zhf.1_Missense_Mutation_p.F218S|AOX1_uc010fsu.2_Missense_Mutation_p.F28S NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 662 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GCTGAGAAATTTCTGGCGACA 0.398000 MAP2 4133 broad.mit.edu 37 2 210559838 210559838 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:210559838G>C uc002vde.1 + 7 3192 c.2944G>C c.(2944-2946)GAG>CAG p.E982Q MAP2_uc002vdc.1_Missense_Mutation_p.E982Q|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E978Q NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 982 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GAAAACTGAAGAGGCTGGTGA 0.398000 ERBB4 2066 broad.mit.edu 37 2 212248599 212248599 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:212248599T>G uc002veg.1 - 28 3766 c.3668A>C c.(3667-3669)AAG>ACG p.K1223T ERBB4_uc002veh.1_Missense_Mutation_p.K1207T|ERBB4_uc010zji.1_Missense_Mutation_p.K1213T|ERBB4_uc010zjj.1_Missense_Mutation_p.K1197T NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1223 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TATGTTGTTCTTCAGGTACTC 0.517000 TSP Lung(8;0.080) VWC2L 402117 broad.mit.edu 37 2 215440504 215440504 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:215440504A>C uc002vet.2 + 4 759 c.629A>C c.(628-630)CAG>CCG p.Q210P VWC2L_uc010zjl.1_3'UTR NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 210 extracellular region 0 AAGCCTGCTCAGTGTTCGAAA 0.478000 DOCK10 55619 broad.mit.edu 37 2 225702525 225702525 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:225702525T>A uc010fwz.1 - 25 3043 c.2804A>T c.(2803-2805)AAG>ATG p.K935M DOCK10_uc002vob.2_Missense_Mutation_p.K929M NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 935 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTCATGGCACTTGGCCACAAT 0.468000 COL4A4 1286 broad.mit.edu 37 2 227896700 227896700 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:227896700G>A uc010zlt.1 - 40 4432 c.3778C>T c.(3778-3780)CCT>TCT p.P1260S NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1260 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGATCTCCAGGTGGACCCGGG 0.542000 PTPRA 5786 broad.mit.edu 37 20 2988067 2988067 + Splice_Site SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr20:2988067G>A uc010zqd.1 + 10 1256 c.939_splice c.e10+1 p.N313_splice PTPRA_uc002whj.2_Splice_Site_p.N302_splice|PTPRA_uc002whk.2_Splice_Site_p.N293_splice|PTPRA_uc002whl.2_Splice_Site_p.N293_splice|PTPRA_uc002whm.2_Splice_Site_p.N69_splice|PTPRA_uc002whn.2_Splice_Site_p.N293_splice|PTPRA_uc002who.2_Splice_Site NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 ATTCATCAACGTAAGGATCGG 0.458000 ProSAPiP1 9762 broad.mit.edu 37 20 3146426 3146426 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr20:3146426G>A uc002wia.1 - 2 2438 c.1040C>T c.(1039-1041)GCG>GTG p.A347V ProSAPiP1_uc002wib.1_Missense_Mutation_p.A347V NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 347 Potential. cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 GGCCACAGCCGCCTCGCTCTG 0.711000 ESF1 51575 broad.mit.edu 37 20 13756707 13756707 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr20:13756707C>T uc002woj.2 - 3 955 c.847G>A c.(847-849)GAG>AAG p.E283K ESF1_uc002wok.1_Missense_Mutation_p.E283K NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 283 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 tcatcctcctcttcatcttca 0.234000 MYH7B 57644 broad.mit.edu 37 20 33577664 33577664 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr20:33577664G>A uc002xbi.1 + 18 1927 c.1835G>A c.(1834-1836)CGG>CAG p.R612Q MIR499_hsa-mir-499|MI0003183_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 570 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CAGCAGCCTCGGCCTGACAAG 0.632000 LPIN3 64900 broad.mit.edu 37 20 39977772 39977772 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr20:39977772A>G uc002xjx.2 + 5 689 c.598A>G c.(598-600)ATC>GTC p.I200V LPIN3_uc010ggh.2_Missense_Mutation_p.I201V|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 200 fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) GCCCAAAGACATCTACCCCTA 0.547000 CSTF1 1477 broad.mit.edu 37 20 54970640 54970640 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr20:54970640G>A uc002xxl.1 + 2 232 c.32G>A c.(31-33)CGC>CAC p.R11H CSTF1_uc002xxm.1_Missense_Mutation_p.R11H|CSTF1_uc002xxn.1_Missense_Mutation_p.R11H|CSTF1_uc002xxo.1_5'UTR NM_001033521 NP_001028693 Q05048 CSTF1_HUMAN cleavage stimulation factor subunit 1 11 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(1) 1 Colorectal(105;0.202) TTGAAGGACCGCCAGCAGCTC 0.498000 ZNF831 128611 broad.mit.edu 37 20 57766527 57766527 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr20:57766527C>T uc002yan.2 + 1 453 c.453C>T c.(451-453)CGC>CGT p.R151R NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 151 C2H2-type 1. intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) ACTGTGGTCGCGACTGCCTGA 0.657000 ADAMTS5 11096 broad.mit.edu 37 21 28338124 28338124 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr21:28338124T>C uc002ymg.2 - 1 1316 c.587A>G c.(586-588)GAG>GGG p.E196G NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 196 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GCTGAAGCCCTCGCGGGTGTA 0.697000 ADAMTS5 11096 broad.mit.edu 37 21 28338580 28338580 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr21:28338580C>T uc002ymg.2 - 1 860 c.131G>A c.(130-132)CGC>CAC p.R44H NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 44 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CTGCCGCCGGCGGGGCTGGGC 0.766000 SMC1B 27127 broad.mit.edu 37 22 45767386 45767386 + Nonsense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr22:45767386G>A uc003bgc.2 - 14 2330 c.2278C>T c.(2278-2280)CGA>TGA p.R760* SMC1B_uc003bgd.2_Nonsense_Mutation_p.R760*|SMC1B_uc003bge.1_Nonsense_Mutation_p.R543* NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 760 Potential. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTAATTCTTCGTTGTCGTTCC 0.299000 BHLHE40 8553 broad.mit.edu 37 3 5025133 5025133 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:5025133C>T uc003bqf.2 + 5 1302 c.995C>T c.(994-996)GCG>GTG p.A332V BHLHE40_uc011asw.1_Missense_Mutation_p.A192V NM_003670 NP_003661 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 332 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCACCTTCAGCGACTGCCTAC 0.607000 ATP2B2 491 broad.mit.edu 37 3 10442664 10442664 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:10442664C>T uc003bvt.2 - 5 1193 c.754G>A c.(754-756)GTG>ATG p.V252M ATP2B2_uc003bvv.2_Missense_Mutation_p.V252M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V252M|ATP2B2_uc010hdp.2_Missense_Mutation_p.V252M|ATP2B2_uc010hdo.2_Translation_Start_Site NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 252 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TCCTTGTCCACGGACTTGCGC 0.587000 SLC25A38 54977 broad.mit.edu 37 3 39430993 39430993 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:39430993C>T uc003cjo.2 + 2 478 c.77C>T c.(76-78)CCG>CTG p.P26L NM_017875 NP_060345 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 26 Solcar 1. erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CAGTTACATCCGGTGATCAAG 0.488000 ST3GAL6 10402 broad.mit.edu 37 3 98489735 98489735 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:98489735G>A uc003dsz.2 + 3 338 c.102G>A c.(100-102)GTG>GTA p.V34V ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Silent_p.V34V|ST3GAL6_uc010hpd.2_Silent_p.V87V NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 34 Lumenal (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 TGGCACCTGTGGAAATGAAAC 0.448000 PIK3CB 5291 broad.mit.edu 37 3 138461469 138461469 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:138461469G>A uc011bmq.1 - 3 552 c.552C>T c.(550-552)ATC>ATT p.I184I NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 184 PI3K-RBD. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AGTTTTCAGGGATGGATGGTT 0.368000 SLC25A36 55186 broad.mit.edu 37 3 140692763 140692763 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:140692763G>A uc003etr.2 + 6 893 c.658G>A c.(658-660)GTG>ATG p.V220M SLC25A36_uc003ets.2_Missense_Mutation_p.V220M|SLC25A36_uc003etq.2_Missense_Mutation_p.V63M|SLC25A36_uc011bmz.1_Missense_Mutation_p.V194M NM_001104647 NP_001098117 Q96CQ1 S2536_HUMAN solute carrier family 25, member 36 isoform a 220 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 TGAAGAGTCTGTGAAAGAAGC 0.348000 SI 6476 broad.mit.edu 37 3 164709261 164709261 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:164709261T>G uc003fei.2 - 44 5050 c.4988A>C c.(4987-4989)AAA>ACA p.K1663T NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1663 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GCCAATATCTTTGCCCTGGAA 0.393000 HNSCC(35;0.089) KCNMB2 10242 broad.mit.edu 37 3 178546118 178546118 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:178546118T>G uc003fjd.2 + 4 723 c.380T>G c.(379-381)CTC>CGC p.L127R uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.L127R|KCNMB2_uc003fjf.2_Missense_Mutation_p.L127R|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN calcium-activated potassium channel beta 2 127 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(1) 1 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) GGGGAAAAGCTCCTCCTCTAC 0.483000 ECE2 9718 broad.mit.edu 37 3 184009886 184009886 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:184009886G>A uc003fni.3 + 19 2550 c.2512G>A c.(2512-2514)GAG>AAG p.E838K ECE2_uc003fnl.3_Missense_Mutation_p.E766K|ECE2_uc003fnm.3_Missense_Mutation_p.E720K|ECE2_uc003fnk.3_Missense_Mutation_p.E691K NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 838 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGCTCTCACGAGGGGCTGGT 0.667000 TMEM44 93109 broad.mit.edu 37 3 194331653 194331653 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr3:194331653C>A uc010hzn.2 - 9 1319 c.1150G>T c.(1150-1152)GTG>TTG p.V384L TMEM44_uc010hzm.2_Missense_Mutation_p.V69L|TMEM44_uc003fuc.2_Missense_Mutation_p.V69L|TMEM44_uc003fue.2_Missense_Mutation_p.V337L|TMEM44_uc003fud.2_Missense_Mutation_p.V337L|TMEM44_uc003fuf.2_Missense_Mutation_p.V337L|TMEM44_uc011bsv.1_Missense_Mutation_p.V337L|TMEM44_uc003fuh.1_RNA NM_001011655 NP_001011655 Q2T9K0 TMM44_HUMAN transmembrane protein 44 isoform b 384 Cytoplasmic (Potential). integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) ACCTGCTGCACAGGCTCGATG 0.423000 RGS12 6002 broad.mit.edu 37 4 3318204 3318204 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr4:3318204G>A uc003ggw.2 + 2 1211 c.307G>A c.(307-309)GAA>AAA p.E103K RGS12_uc003ggu.2_Missense_Mutation_p.E103K|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.E103K|RGS12_uc003ggx.1_Missense_Mutation_p.E103K NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 103 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGGCCGCTTCGAATCCTGTTC 0.468000 STK32B 55351 broad.mit.edu 37 4 5468557 5468557 + Missense_Mutation SNP C C T rs146908689 TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr4:5468557C>T uc003gih.1 + 10 1101 c.1037C>T c.(1036-1038)CCG>CTG p.P346L STK32B_uc010ida.1_Missense_Mutation_p.P299L NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 346 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GACAGCTGCCCGCTGGTGAGT 0.493000 FRYL 285527 broad.mit.edu 37 4 48592824 48592824 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr4:48592824G>A uc003gyh.1 - 17 1964 c.1359C>T c.(1357-1359)GTC>GTT p.V453V FRYL_uc003gyk.2_Silent_p.V453V NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TTACAAGGAAGACTCTGAGAC 0.368000 MAPK10 5602 broad.mit.edu 37 4 87028500 87028500 + Missense_Mutation SNP G G A rs143720396 TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr4:87028500G>A uc003hpq.2 - 4 309 c.242C>T c.(241-243)GCG>GTG p.A81V MAPK10_uc010ikg.2_Missense_Mutation_p.A43V|MAPK10_uc003hpr.2_Missense_Mutation_p.A43V|MAPK10_uc003hps.2_Missense_Mutation_p.A81V|MAPK10_uc003hpt.2_Missense_Mutation_p.A81V|MAPK10_uc003hpu.2_Missense_Mutation_p.A81V|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpo.2_5'UTR|MAPK10_uc011ccw.1_5'UTR|MAPK10_uc003hpp.2_5'UTR NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 81 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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 cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) AGCATCATACGCGGCACTGTA 0.443000 FSTL5 56884 broad.mit.edu 37 4 162307513 162307513 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr4:162307513C>A uc003iqh.2 - 16 2366 c.1930G>T c.(1930-1932)GAC>TAC p.D644Y FSTL5_uc003iqi.2_Missense_Mutation_p.D643Y|FSTL5_uc010iqv.2_Missense_Mutation_p.D634Y|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 644 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CACTTATAGTCCTTCAAGTTA 0.403000 GALNTL6 442117 broad.mit.edu 37 4 173730599 173730599 + Missense_Mutation SNP G G A rs146548110 TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr4:173730599G>A uc003isv.2 + 6 1377 c.641G>A c.(640-642)CGG>CAG p.R214Q NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 214 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GGACTCATCCGGACCCGTCTC 0.517000 TUBB4Q 56604 broad.mit.edu 37 4 190905444 190905444 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr4:190905444G>A uc011clg.1 - 3 243 c.240C>T c.(238-240)TTC>TTT p.F80F NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 81 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) AGACCTGCCCGAAGGGCCCCG 0.667000 IRX1 79192 broad.mit.edu 37 5 3599410 3599410 + Silent SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr5:3599410T>G uc003jde.2 + 2 400 c.348T>G c.(346-348)GCT>GCG p.A116A NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 116 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 CGGCGCCGGCTTATTACCCCT 0.652000 ADAMTS16 170690 broad.mit.edu 37 5 5239336 5239336 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr5:5239336T>C uc003jdl.2 + 15 2365 c.2227T>C c.(2227-2229)TCA>CCA p.S743P ADAMTS16_uc003jdk.1_Missense_Mutation_p.S743P|ADAMTS16_uc010itk.1_RNA NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 743 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CGGGAATAACTCAGCCTGCAC 0.512000 TRIO 7204 broad.mit.edu 37 5 14504649 14504649 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr5:14504649C>T uc003jff.2 + 55 8565 c.8559C>T c.(8557-8559)GTC>GTT p.V2853V TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2853 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CCCTGCTTGTCGGCCTCCTCG 0.587000 IL7R 3575 broad.mit.edu 37 5 35876425 35876425 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr5:35876425T>G uc003jjs.2 + 8 1306 c.1217T>G c.(1216-1218)CTT>CGT p.L406R IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 406 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GACCTCCTGCTTAGCCTTGGG 0.532000 HCN1 348980 broad.mit.edu 37 5 45645353 45645353 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr5:45645353T>G uc003jok.2 - 2 808 c.783A>C c.(781-783)AAA>AAC p.K261N NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 261 Helical; Voltage-sensor; Name=Segment S4; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GACTGAGAATTTTTGTAAACC 0.343000 APC 324 broad.mit.edu 37 5 112151261 112151261 + Nonsense_Mutation SNP C C T rs137854568 TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr5:112151261C>T uc010jby.2 + 9 1284 c.904C>T c.(904-906)CGA>TGA p.R302* APC_uc011cvt.1_Nonsense_Mutation_p.R284*|APC_uc003kpz.3_Nonsense_Mutation_p.R302*|APC_uc003kpy.3_Nonsense_Mutation_p.R302*|APC_uc010jbz.2_Nonsense_Mutation_p.R19* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 302 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.R302*(10) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CTCTGCACCTCGAAGGCTGAC 0.388000 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) ZNF474 133923 broad.mit.edu 37 5 121488479 121488479 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr5:121488479A>C uc003ksv.2 + 2 1170 c.794A>C c.(793-795)AAG>ACG p.K265T NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 265 intracellular zinc ion binding 0 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CTCCCACAGAAGCCTCAGCCC 0.552000 SLC12A2 6558 broad.mit.edu 37 5 127510310 127510310 + Missense_Mutation SNP G G T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr5:127510310G>T uc003kus.2 + 20 3045 c.2881G>T c.(2881-2883)GAT>TAT p.D961Y SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.D961Y NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 961 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TAAAAAGTCCGATTTAGATAC 0.308000 F13A1 2162 broad.mit.edu 37 6 6145969 6145969 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:6145969T>G uc003mwv.2 - 15 2205 c.2082A>C c.(2080-2082)GAA>GAC p.E694D F13A1_uc011dib.1_Missense_Mutation_p.K588T NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 694 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GCCGGCACACTTCTTCCCACT 0.537000 ABCF1 23 broad.mit.edu 37 6 30550930 30550930 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:30550930C>T uc003nql.2 + 10 975 c.880C>T c.(880-882)CGC>TGC p.R294C ABCF1_uc003nqk.2_Missense_Mutation_p.R295C|ABCF1_uc003nqm.2_Missense_Mutation_p.R256C|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 294 inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 GATGTCCTCCCGCCAAGCCAT 0.517000 MCCD1 401250 broad.mit.edu 37 6 31496954 31496954 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:31496954C>T uc003ntp.1 + 1 216 c.163C>T c.(163-165)CCT>TCT p.P55S NM_001011700 NP_001011700 P59942 MCCD1_HUMAN mitochondrial coiled-coil domain 1 precursor 55 mitochondrion 0 GATGACGTCCCCTCCCAGGGT 0.567000 TNXB 7148 broad.mit.edu 37 6 32020588 32020588 + Silent SNP G G T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:32020588G>T uc003nzl.2 - 26 9170 c.8968C>A c.(8968-8970)CGG>AGG p.R2990R NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3037 Fibronectin type-III 22. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 ACCTGGGGCCGCCCGTCCCTG 0.657000 FAM83B 222584 broad.mit.edu 37 6 54806564 54806564 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:54806564G>A uc003pck.2 + 5 2911 c.2795G>A c.(2794-2796)CGT>CAT p.R932H NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 932 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) ACTGATCGGCGTGTTTACAGT 0.428000 BAI3 577 broad.mit.edu 37 6 70071081 70071081 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:70071081A>C uc003pev.3 + 29 4364 c.3916A>C c.(3916-3918)AGT>CGT p.S1306R BAI3_uc010kak.2_Missense_Mutation_p.S1306R|BAI3_uc011dxx.1_Missense_Mutation_p.S512R NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1306 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) AATGATGGAAAGTGACTATAT 0.393000 LMBRD1 55788 broad.mit.edu 37 6 70423647 70423647 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:70423647A>C uc003pfa.2 - 9 920 c.805T>G c.(805-807)TTA>GTA p.L269V LMBRD1_uc003pey.2_Missense_Mutation_p.L65V|LMBRD1_uc003pez.2_Missense_Mutation_p.L196V|LMBRD1_uc010kal.2_Missense_Mutation_p.L196V|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 269 Cytoplasmic (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 AATTGTTTTAAGGCGCGTTTA 0.383000 FILIP1 27145 broad.mit.edu 37 6 76063321 76063321 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:76063321T>A uc003pia.2 - 4 936 c.563A>T c.(562-564)CAT>CTT p.H188L FILIP1_uc003phy.1_Missense_Mutation_p.H188L|FILIP1_uc003phz.2_Missense_Mutation_p.H89L|FILIP1_uc010kbe.2_Missense_Mutation_p.H191L NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 188 skin(3)|ovary(1) 4 AGTGTGTTTATGCTTCTCGTT 0.517000 PHIP 55023 broad.mit.edu 37 6 79664656 79664656 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:79664656G>A uc003pir.2 - 35 4154 c.3928C>T c.(3928-3930)CGT>TGT p.R1310C PHIP_uc003piq.2_Missense_Mutation_p.R334C|PHIP_uc011dyp.1_Missense_Mutation_p.R1309C|PHIP_uc003pio.3_Missense_Mutation_p.R196C NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1310 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) GCTCTATTACGTAATCTTCTT 0.328000 ASCC3 10973 broad.mit.edu 37 6 100960674 100960674 + Nonsense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:100960674G>A uc003pqk.2 - 40 6525 c.6196C>T c.(6196-6198)CGA>TGA p.R2066* NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 2066 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TTGTCATCTCGTTTGTCTGCA 0.428000 FIG4 9896 broad.mit.edu 37 6 110064385 110064385 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:110064385A>C uc003ptt.2 + 9 1164 c.949A>C c.(949-951)AGT>CGT p.S317R FIG4_uc011eau.1_Intron NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 317 SAC. cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CACTGCAGGAAGTTATTCTTC 0.398000 UTRN 7402 broad.mit.edu 37 6 144780063 144780063 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:144780063C>G uc003qkt.2 + 19 2534 c.2442C>G c.(2440-2442)ATC>ATG p.I814M UTRN_uc010khq.1_Missense_Mutation_p.I814M NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 814 Interaction with SYNM.|Spectrin 6. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AAAAGGTCATCAAGACAAAGG 0.418000 SYNE1 23345 broad.mit.edu 37 6 152671358 152671358 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:152671358T>A uc010kiw.2 - 72 12448 c.11846A>T c.(11845-11847)GAC>GTC p.D3949V SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.D3949V|SYNE1_uc010kja.1_Missense_Mutation_p.D654V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3949 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCCAGGAGGTCAGGTGCCAC 0.542000 HNSCC(10;0.0054) FNDC1 84624 broad.mit.edu 37 6 159660666 159660666 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr6:159660666C>T uc010kjv.2 + 14 4498 c.4298C>T c.(4297-4299)CCG>CTG p.P1433L FNDC1_uc010kjw.1_Missense_Mutation_p.P1318L NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1433 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGAGGAAAGCCGCTGGTGGGC 0.453000 C7orf27 221927 broad.mit.edu 37 7 2578824 2578824 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:2578824C>T uc003smi.2 - 13 1801 c.1759G>A c.(1759-1761)GAG>AAG p.E587K C7orf27_uc003smh.3_Missense_Mutation_p.E19K NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 587 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) TGCCGGGCCTCTGCATGCTCA 0.672000 DGKB 1607 broad.mit.edu 37 7 14724974 14724974 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:14724974T>G uc003ssz.2 - 9 912 c.725A>C c.(724-726)GAT>GCT p.D242A DGKB_uc011jxt.1_Missense_Mutation_p.D235A|DGKB_uc003sta.2_Missense_Mutation_p.D242A|DGKB_uc011jxu.1_Missense_Mutation_p.D242A|DGKB_uc011jxv.1_Missense_Mutation_p.D242A NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 242 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) GTGCTGTCCATCATCCTTCAC 0.463000 STK31 56164 broad.mit.edu 37 7 23871800 23871800 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:23871800A>C uc003sws.3 + 24 2942 c.2875A>C c.(2875-2877)AGT>CGT p.S959R STK31_uc003swt.3_Missense_Mutation_p.S936R|STK31_uc011jze.1_Missense_Mutation_p.S936R|STK31_uc010kuq.2_Missense_Mutation_p.S936R|STK31_uc003swv.1_Missense_Mutation_p.S125R NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 959 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 ATGTTATAGAAGTTCAATGAC 0.358000 NFE2L3 9603 broad.mit.edu 37 7 26224983 26224983 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:26224983C>T uc003sxq.2 + 4 1937 c.1665C>T c.(1663-1665)GTC>GTT p.V555V NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 555 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 ATGAAATTGTCGGCATGCCTG 0.393000 ABCA13 154664 broad.mit.edu 37 7 48559811 48559811 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:48559811T>A uc003toq.2 + 53 13997 c.13972T>A c.(13972-13974)TTC>ATC p.F4658I ABCA13_uc010kys.1_Missense_Mutation_p.F1733I|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.F388I NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4658 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GGGCTGGATCTTCGTGCAACT 0.502000 STX1A 6804 broad.mit.edu 37 7 73122931 73122931 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:73122931T>G uc003tyx.2 - 3 223 c.196A>C c.(196-198)AAC>CAC p.N66H STX1A_uc003tyy.2_Missense_Mutation_p.N66H|STX1A_uc010lbj.1_Missense_Mutation_p.N66H|hsa-mir-4284|MI0015893_5'Flank NM_004603 NP_004594 Q16623 STX1A_HUMAN syntaxin 1A isoform 1 66 Cytoplasmic (Potential). energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) TCATCGGGGTTGGGGGATGCC 0.637000 PCLO 27445 broad.mit.edu 37 7 82544655 82544655 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:82544655T>G uc003uhx.2 - 7 12936 c.12647A>C c.(12646-12648)TAT>TCT p.Y4216S PCLO_uc003uhv.2_Missense_Mutation_p.Y4216S|PCLO_uc010lec.2_Missense_Mutation_p.Y1181S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4147 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATAGCTTGAATAATCAGGTTC 0.358000 PCLO 27445 broad.mit.edu 37 7 82544697 82544697 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:82544697T>A uc003uhx.2 - 7 12894 c.12605A>T c.(12604-12606)AAA>ATA p.K4202I PCLO_uc003uhv.2_Missense_Mutation_p.K4202I|PCLO_uc010lec.2_Missense_Mutation_p.K1167I NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4133 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGGTGAAAATTTTGACATTTT 0.383000 PCLO 27445 broad.mit.edu 37 7 82581838 82581838 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:82581838C>T uc003uhx.2 - 5 8720 c.8431G>A c.(8431-8433)GAA>AAA p.E2811K PCLO_uc003uhv.2_Missense_Mutation_p.E2811K|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2742 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACTAGGCTTTCTGTGCCTGTA 0.473000 SAMD9 54809 broad.mit.edu 37 7 92733880 92733880 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:92733880T>G uc003umf.2 - 3 1787 c.1531A>C c.(1531-1533)AGT>CGT p.S511R SAMD9_uc003umg.2_Missense_Mutation_p.S511R NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 511 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGCCAGGAACTTGGATCAAAG 0.388000 SGCE 8910 broad.mit.edu 37 7 94257572 94257572 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:94257572T>C uc003unl.2 - 3 443 c.332A>G c.(331-333)GAT>GGT p.D111G SGCE_uc003unm.2_Missense_Mutation_p.D111G|SGCE_uc003unn.2_Missense_Mutation_p.D111G|SGCE_uc011kic.1_Missense_Mutation_p.D70G|SGCE_uc011kid.1_Missense_Mutation_p.D147G NM_003919 NP_003910 O43556 SGCE_HUMAN sarcoglycan, epsilon isoform 2 111 Extracellular (Potential). cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TAGGACTCCATCACTATATGG 0.388000 DYNC1I1 1780 broad.mit.edu 37 7 95709704 95709704 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:95709704G>A uc003uoc.3 + 16 2008 c.1731G>A c.(1729-1731)GGG>GGA p.G577G DYNC1I1_uc003uod.3_Silent_p.G560G|DYNC1I1_uc003uob.2_Silent_p.G540G|DYNC1I1_uc003uoe.3_Silent_p.G557G|DYNC1I1_uc010lfl.2_Silent_p.G566G NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 577 WD 7. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CCATTGAGGGGGCATCCGCCC 0.453000 RELN 5649 broad.mit.edu 37 7 103322678 103322678 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:103322678A>G uc003vca.2 - 11 1334 c.1174T>C c.(1174-1176)TAT>CAT p.Y392H RELN_uc010liz.2_Missense_Mutation_p.Y392H NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 392 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCATGGAAATAAATGGAGTTC 0.433000 C7orf58 79974 broad.mit.edu 37 7 120770266 120770266 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:120770266C>T uc003vjq.3 + 12 1942 c.1495C>T c.(1495-1497)CTG>TTG p.L499L C7orf58_uc003vjr.1_Silent_p.L499L|C7orf58_uc003vjs.3_Silent_p.L499L|C7orf58_uc003vjt.3_Silent_p.L279L|C7orf58_uc010lkk.1_Silent_p.L279L NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 499 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) TGGCTCAGTCCTGACCCAATA 0.403000 C7orf58 79974 broad.mit.edu 37 7 120781020 120781020 + Silent SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:120781020T>C uc003vjq.3 + 15 2286 c.1839T>C c.(1837-1839)ACT>ACC p.T613T C7orf58_uc003vjs.3_Silent_p.T613T|C7orf58_uc003vjt.3_Silent_p.T393T NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 613 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GAGTGGAAACTCCTAAGTGTC 0.443000 C7orf58 79974 broad.mit.edu 37 7 120876819 120876819 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:120876819T>C uc003vjq.3 + 17 2554 c.2107T>C c.(2107-2109)TCT>CCT p.S703P C7orf58_uc003vjs.3_Missense_Mutation_p.S703P|C7orf58_uc003vjt.3_Missense_Mutation_p.S483P NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 703 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) ACAGCCTATTTCTTCTGACTA 0.358000 ABCF2 10061 broad.mit.edu 37 7 150920882 150920882 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:150920882C>T uc003wjp.2 - 5 715 c.604G>A c.(604-606)GAC>AAC p.D202N ABCF2_uc003wjo.1_Missense_Mutation_p.D202N NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 202 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTGCCTTGTCGGCATCCAGC 0.592000 UBE3C 9690 broad.mit.edu 37 7 157000610 157000610 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr7:157000610G>A uc010lqs.2 + 13 2102 c.1790G>A c.(1789-1791)AGA>AAA p.R597K UBE3C_uc003wng.2_Missense_Mutation_p.R597K NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 597 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GAACAGAAAAGATGGATTCAG 0.328000 UNC5D 137970 broad.mit.edu 37 8 35541239 35541239 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:35541239G>A uc003xjr.1 + 5 1073 c.745G>A c.(745-747)GTC>ATC p.V249I UNC5D_uc003xjs.1_Missense_Mutation_p.V244I|UNC5D_uc003xjt.1_Missense_Mutation_p.V18I NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 249 Extracellular (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CACTGTTGTGGTCTACGGTAA 0.512000 IDO2 169355 broad.mit.edu 37 8 39871157 39871157 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:39871157G>A uc010lwy.1 + 10 1074 c.832G>A c.(832-834)GGC>AGC p.G278S IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Missense_Mutation_p.G19S|IDO2_uc003xnp.1_Missense_Mutation_p.G19S NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN indoleamine-pyrrole 2,3 dioxygenase-like 1 265 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity ovary(2) 2 GAAATACTCCGGCGGGAGTGC 0.478000 MYST3 7994 broad.mit.edu 37 8 41906165 41906165 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:41906165C>A uc010lxb.2 - 3 875 c.331G>T c.(331-333)GCA>TCA p.A111S MYST3_uc010lxc.2_Missense_Mutation_p.A111S|MYST3_uc003xon.3_Missense_Mutation_p.A111S|MYST3_uc010lxd.2_Missense_Mutation_p.A111S NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 111 H15.|Required for activation of RUNX1-1.|Required for nuclear localization. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) CCAGACTCTGCCAAGCCCTCA 0.448000 PXDNL 137902 broad.mit.edu 37 8 52384785 52384785 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:52384785T>G uc003xqu.3 - 8 875 c.774A>C c.(772-774)GAA>GAC p.E258D NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 258 Ig-like C2-type 1. 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) TGGGGTTTCCTTCCGCCCGGC 0.443000 TTPA 7274 broad.mit.edu 37 8 63976767 63976767 + Missense_Mutation SNP G G A rs35916840 byFrequency TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:63976767G>A uc003xux.1 - 4 693 c.661C>T c.(661-663)CGG>TGG p.R221W NM_000370 NP_000361 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 221 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding 0 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) TTACTCACCCGTTCCTTAATT 0.368000 POP1 10940 broad.mit.edu 37 8 99170065 99170065 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:99170065G>A uc003yij.3 + 16 2741 c.2641G>A c.(2641-2643)GAG>AAG p.E881K POP1_uc011lgv.1_Missense_Mutation_p.E881K|POP1_uc003yik.2_Missense_Mutation_p.E881K NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 881 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CCCAGCCAAGGAGGACTTCCT 0.552000 TM7SF4 81501 broad.mit.edu 37 8 105361682 105361682 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:105361682T>G uc003ylx.1 + 2 951 c.902T>G c.(901-903)CTT>CGT p.L301R NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 301 Helical; (Potential). osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTCCCCATACTTATCCATCTC 0.473000 KCNV1 27012 broad.mit.edu 37 8 110986309 110986309 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:110986309G>A uc003ynr.3 - 1 651 c.309C>T c.(307-309)TTC>TTT p.F103F KCNV1_uc010mcw.2_Silent_p.F103F NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 103 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AGCTGCGGTCGAAGAAGTACT 0.662000 KCNQ3 3786 broad.mit.edu 37 8 133187703 133187703 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:133187703G>A uc003ytj.2 - 5 1155 c.930C>T c.(928-930)GGC>GGT p.G310G KCNQ3_uc010mdt.2_Silent_p.G310G NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 310 G -> V (in EBN2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GACTCACCAGGCCCCACCACA 0.527000 ARHGAP39 80728 broad.mit.edu 37 8 145772550 145772550 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:145772550G>A uc003zdt.1 - 6 2475 c.1920C>T c.(1918-1920)ACC>ACT p.T640T ARHGAP39_uc011llk.1_Silent_p.T640T|ARHGAP39_uc003zds.1_Silent_p.T640T NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 640 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 AGGCCAGGTTGGTCTGCACGG 0.657000 NPR2 4882 broad.mit.edu 37 9 35800105 35800105 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr9:35800105G>A uc003zyd.2 + 4 1074 c.1074G>A c.(1072-1074)CGG>CGA p.R358R NPR2_uc010mlb.2_Silent_p.R358R NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 358 Extracellular (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GAGGCACCCGGGAGGATGGAC 0.512000 C9orf102 375748 broad.mit.edu 37 9 98685633 98685633 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr9:98685633C>G uc004avt.3 + 9 1926 c.1538C>G c.(1537-1539)TCT>TGT p.S513C C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.S215C|C9orf102_uc010mry.1_Missense_Mutation_p.S215C|C9orf102_uc010mrz.2_Missense_Mutation_p.S324C|C9orf102_uc004avu.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 513 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) GAAACACTTTCTGACCCTAAA 0.303000 GARNL3 84253 broad.mit.edu 37 9 130147318 130147318 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr9:130147318C>T uc011mae.1 + 24 2683 c.2282C>T c.(2281-2283)CCG>CTG p.P761L GARNL3_uc011mad.1_Missense_Mutation_p.P739L|GARNL3_uc010mxi.2_5'UTR NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 761 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TGTGCTTTCCCGTATCTCCTG 0.617000 FUBP3 8939 broad.mit.edu 37 9 133498194 133498194 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr9:133498194C>T uc004bzr.1 + 10 979 c.871C>T c.(871-873)CCA>TCA p.P291S FUBP3_uc010mzd.1_Missense_Mutation_p.P231S|FUBP3_uc004bzs.1_Missense_Mutation_p.P204S NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 291 KH 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) TCAGTTTAAACCAGGTGGGTA 0.368000 RPS6KA3 6197 broad.mit.edu 37 X 20173605 20173605 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:20173605G>A uc004czu.2 - 22 2134 c.2134C>T c.(2134-2136)CGT>TGT p.R712C RPS6KA3_uc011mjk.1_Missense_Mutation_p.R682C|RPS6KA3_uc004czv.2_Missense_Mutation_p.R699C|RPS6KA3_uc011mjl.1_Missense_Mutation_p.R683C|RPS6KA3_uc011mjm.1_Missense_Mutation_p.R684C NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 712 axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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 cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 GACTGATTACGGTTCAAAGCA 0.433000 ZNF645 158506 broad.mit.edu 37 X 22292314 22292314 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:22292314G>A uc004dai.1 + 1 1255 c.1206G>A c.(1204-1206)ACG>ACA p.T402T NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 402 intracellular zinc ion binding lung(1)|pancreas(1) 2 GTCCACCAACGCGGAGTCCAC 0.458000 FAM47C 442444 broad.mit.edu 37 X 37028374 37028374 + Missense_Mutation SNP C C T rs140469750 byFrequency TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:37028374C>T uc004ddl.1 + 1 1905 c.1891C>T c.(1891-1893)CGC>TGC p.R631C NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 631 ovary(3) 3 GTCCCATCTCCGCCCAGAGCC 0.637000 RBM10 8241 broad.mit.edu 37 X 47030564 47030564 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:47030564G>A uc004dhf.2 + 4 718 c.339G>A c.(337-339)GAG>GAA p.E113E RBM10_uc004dhe.1_Silent_p.E103E|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Silent_p.E113E|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Silent_p.E178E NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 113 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 AGCAAGGggaggaggaggagg 0.522000 WNK3 65267 broad.mit.edu 37 X 54228489 54228489 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:54228489T>G uc004dtd.1 - 22 5276 c.4837A>C c.(4837-4839)AGT>CGT p.S1613R WNK3_uc004dtc.1_Missense_Mutation_p.S1670R NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1613 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TGGTTTAAACTTGGCTTAATA 0.363000 MAGEE1 57692 broad.mit.edu 37 X 75648562 75648562 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:75648562T>G uc004ecm.1 + 1 446 c.239T>G c.(238-240)GTG>GGG p.V80G NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 80 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 AGCACCTTTGTGCCGCCCACC 0.682000 ZCCHC16 340595 broad.mit.edu 37 X 111698082 111698082 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:111698082A>C uc004epo.1 + 3 567 c.126A>C c.(124-126)CAA>CAC p.Q42H NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 42 nucleic acid binding|zinc ion binding ovary(1) 1 AAAGGGGCCAAGTCATGCCTG 0.522000 VGLL1 51442 broad.mit.edu 37 X 135638646 135638646 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:135638646T>G uc004ezy.2 + 5 895 c.725T>G c.(724-726)CTT>CGT p.L242R NM_016267 NP_057351 Q99990 VGLL1_HUMAN vestigial like 1 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 0 Acute lymphoblastic leukemia(192;0.000127) AAATACTCACTTACACCACCA 0.478000 UBE2NL 389898 broad.mit.edu 37 X 142967519 142967519 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:142967519T>C uc004fca.2 + 1 347 c.317T>C c.(316-318)CTG>CCG p.L106P NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 106 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) CGCACAGTTCTGCTATCGATC 0.423000 MAGEA12 4111 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:151896589C>A uc004fgb.2 - 3 c.388G>T P43365 MAGAC_HUMAN Homo sapiens melanoma antigen family A, 12, mRNA (cDNA clone MGC:4914 IMAGE:3450217), complete cds. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GGTTGTTGGACAATGGGCTGG 0.557000 HDAC7 51564 broad.mit.edu 37 12 48192633 48192633 + Frame_Shift_Del DEL G G - TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr12:48192633delG uc009zkv.1 - 1 291 c.76delC c.(76-78)CAGfs p.Q26fs HDAC7_uc010slo.1_Frame_Shift_Del_p.Q65fs|HDAC7_uc001rqj.3_Frame_Shift_Del_p.Q65fs|HDAC7_uc001rqk.3_Frame_Shift_Del_p.Q48fs Q8WUI4 HDAC7_HUMAN Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system. 26 Transcription repression 1 (By similarity).|Interaction with MEF2C (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) TGCAGGCGCTGGGGACGCTGC 0.692 ITGB4 3691 broad.mit.edu 37 17 73747111 73747112 + Frame_Shift_Ins INS - - T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr17:73747111_73747112insT uc002jpg.2 + 30 3899_3900 c.3712_3713insT c.(3712-3714)CTGfs p.L1238fs ITGB4_uc002jph.2_Frame_Shift_Ins_p.L1238fs|ITGB4_uc002jpi.3_Frame_Shift_Ins_p.L1238fs|ITGB4_uc002jpj.2_Frame_Shift_Ins_p.L1238fs NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1238 Fibronectin type-III 2.|Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGTGACCCAGCTGAGCTGGGCT 0.594 OBSCN 84033 broad.mit.edu 37 1 228434288 228434289 + Frame_Shift_Ins INS - - G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr1:228434287_228434288A>AG uc009xez.1 + 12 3860_3861 c.3816_3817A>AG c.(3814-3819)gcagggfs p.A1272fs OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A1272fs NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1272 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding p.E1271E(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGACTGAGGCAGGGGCCAGTGC 0.584 ZNF804A 91752 broad.mit.edu 37 2 185803431 185803458 + Frame_Shift_Del DEL TGCAGCAGCACGCTGCAGCTGCTGCAGC TGCAGCAGCACGCTGCAGCTGCTGCAGC - rs112183442 byFrequency TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr2:185803430_185803457TTGCAGCAGCACGCTGCAGCTGCTGCAGC>T uc002uph.3 + 3 3901_3928 c.3307_3334TTGCAGCAGCACGCTGCAGCTGCTGCAGC>T c.(3307-3336)ttgcagcagcacgctgcagctgctgcagctfs p.L1103fs NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 1103 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TCACACTGTTTtgcagcagcacgctgcagctgctgcagctgcagctgc 0.544 ELP3 55140 broad.mit.edu 37 8 27967928 27967929 + Frame_Shift_Ins INS - - CCTA TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr8:27967927_27967928T>TCCTA uc003xgo.4 + 5 582_583 c.434_435T>TCCTA c.(433-435)ttcfs p.F145fs ELP3_uc003xgn.4_Frame_Shift_Ins_p.F130fs|ELP3_uc011las.2_Frame_Shift_Ins_p.F26fs|ELP3_uc011lat.2_Frame_Shift_Ins_p.F26fs|ELP3_uc011laq.2_Frame_Shift_Ins_p.F73fs|ELP3_uc011lar.2_Frame_Shift_Ins_p.F53fs NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA. 145 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TATGACCCTTTCCTACAGACAA 0.337 AOC3 8639 broad.mit.edu 37 17 41003597 41003598 + Frame_Shift_Ins INS - - G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr17:41003596_41003597T>TG uc002ibv.3 + 0 396_397 c.236_237T>TG c.(235-237)ctgfs p.L79fs NM_003734 NP_003725 Q16853 AOC3_HUMAN Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA. 79 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) ACCCAGCGGCTGGGGCCAGGGC 0.658 ITGB4 3691 broad.mit.edu 37 17 73747112 73747113 + Frame_Shift_Ins INS - - T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr17:73747111_73747112C>CT uc002jpg.3 + 29 3899_3900 c.3712_3713C>CT c.(3712-3714)ctgfs p.L1238fs ITGB4_uc002jph.3_Frame_Shift_Ins_p.L1238fs|ITGB4_uc002jpi.4_Frame_Shift_Ins_p.L1238fs|ITGB4_uc002jpj.3_Frame_Shift_Ins_p.L1238fs NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1238 Fibronectin type-III 2. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGTGACCCAGCTGAGCTGGGCT 0.594 FHOD3 80206 broad.mit.edu 37 18 34298328 34298329 + Frame_Shift_Ins INS - - CC TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chr18:34298327_34298328T>TCC uc021uiv.1 + 18 3163_3164 c.3066_3067T>TCC c.(3064-3069)cctcccfs p.P1022fs FHOD3_uc002kzs.1_Frame_Shift_Ins_p.P847fs|FHOD3_uc002kzt.1_Frame_Shift_Ins_p.P830fs|FHOD3_uc010dmz.1_Frame_Shift_Ins_p.P562fs|FHOD3_uc010dna.1_Frame_Shift_Ins_p.P150fs NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA. 830 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CTGGGCCACCTCCCCCACCCCC 0.604 PPP2R3B 28227 broad.mit.edu 37 X 301618 301624 + Frame_Shift_Del DEL GAACATG GAACATG - rs147635089 byFrequency TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc g.chrX:301617_301623CGAACATG>C uc004cpg.3 - 9 1492_1498 c.1228_1234CATGTTCG>G c.(1228-1236)atgttcgagfs p.M410fs PPP2R3B_uc004cpf.3_Frame_Shift_Del_p.M11fs NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA. 410 EF-hand. cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TACTCGAGCTCGAACATGGACAGGGCG 0.662