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 ACHILLES_Top_Genes 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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PRAMEF12 390999 broad.mit.edu 37 1 12837248 12837248 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:12837248C>A uc001aui.2 + 3 985 c.958C>A c.(958-960)CAG>AAG p.Q320K NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 320 LRR 1. ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCATCCGTCAGCTAAAAGA 0.582 NA 33 130 8.4185e-14 1.07738e-13 0.012213 1 0 PRDM2 7799 broad.mit.edu 37 1 14109132 14109132 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:14109132G>C uc001avi.2 + 8 5698 c.4842G>C c.(4840-4842)AGG>AGC p.R1614S PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.R1614S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.R1413S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1614 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TGCACGTGAGGGTACAGAAAA 0.458 NA 12 60 0 0 0.013537 0 0 CROCC 9696 broad.mit.edu 37 1 17250965 17250965 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:17250965C>T uc001azt.2 + 3 411 c.342C>T c.(340-342)GTC>GTT p.V114V CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 114 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACAATGCGGTCAGCGAGAGGG 0.632 NA 12 22 0 0 0.010729 0 0 EPHA8 2046 broad.mit.edu 37 1 22927868 22927868 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:22927868G>T uc001bfx.1 + 16 2930 c.2805G>T c.(2803-2805)GTG>GTT p.V935V NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 935 Cytoplasmic (Potential).|SAM. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCCTCACCGTGGGGGACTGGC 0.677 NA 28 59 9.39395e-14 1.19231e-13 0.00632 1 0 FUCA1 2517 broad.mit.edu 37 1 24172269 24172269 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:24172269T>A uc001bie.2 - 8 1382 c.1337A>T c.(1336-1338)CAG>CTG p.Q446L NM_000147 NP_000138 P04066 FUCO_HUMAN fucosidase, alpha-L-1, tissue precursor 446 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) GGGTGGCAACTGGGGTAGAGA 0.463 NA 4 87 0 0 0.009096 0 0 EXTL1 2134 broad.mit.edu 37 1 26357001 26357001 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:26357001G>T uc001blf.2 + 4 1883 c.1016G>T c.(1015-1017)CGG>CTG p.R339L NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 339 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TCCCCTGCACGGGTCCTCGCC 0.507 NA 19 65 8.04996e-18 1.09385e-17 0.012319 1 0 DLGAP3 58512 broad.mit.edu 37 1 35351192 35351192 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:35351192G>C uc001byc.2 - 5 1801 c.1801C>G c.(1801-1803)CCG>GCG p.P601A NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 601 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) GCCCGGGGCGGCACCGGCGCC 0.761 NA 7 10 0 0 0.001984 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978898 41978898 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:41978898G>A uc001cgz.3 - 8 7207 c.5994C>T c.(5992-5994)TCC>TCT p.S1998S HIVEP3_uc001cha.3_Silent_p.S1998S|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1998 4. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCGGGCCGGGGAGCATCGCT 0.627 NA 27 52 0 0 0.003954 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978901 41978901 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:41978901G>A uc001cgz.3 - 8 7204 c.5991C>T c.(5989-5991)TGC>TGT p.C1997C HIVEP3_uc001cha.3_Silent_p.C1997C|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1997 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGCCGGGGAGCATCGCTGGG 0.637 NA 29 54 0 0 0.005443 0 0 TIE1 7075 broad.mit.edu 37 1 43775150 43775150 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:43775150G>A uc001ciu.2 + 9 1359 c.1280G>A c.(1279-1281)CGT>CAT p.R427H TIE1_uc010okd.1_Missense_Mutation_p.R427H|TIE1_uc010oke.1_Missense_Mutation_p.R382H|TIE1_uc009vwq.2_Missense_Mutation_p.R383H|TIE1_uc010okf.1_Missense_Mutation_p.R72H|TIE1_uc010okg.1_Missense_Mutation_p.R72H|TIE1_uc010okc.1_3'UTR NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 427 Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGGAGTGCCGTGTGTCCACA 0.572 NA 8 37 0 0 0.004482 0 0 KLF17 128209 broad.mit.edu 37 1 44596220 44596220 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:44596220C>T uc001clp.2 + 3 1020 c.962C>T c.(961-963)TCA>TTA p.S321L NM_173484 NP_775755 Q5JT82 KLF17_HUMAN zinc finger protein 393 321 C2H2-type 2. regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) GAAAGTTGTTCATGGTCTTTC 0.463 NA 44 62 0 0 0.009718 0 0 USP24 23358 broad.mit.edu 37 1 55590228 55590228 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:55590228C>T uc001cyg.3 - 32 3554 c.3554G>A c.(3553-3555)CGG>CAG p.R1185Q NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 1345 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 AAGATCAAGCCGTCCTGCAGC 0.428 NA 7 31 0 0 0.001984 0 0 DOCK7 85440 broad.mit.edu 37 1 62961329 62961329 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:62961329G>A uc001daq.2 - 39 4954 c.4920C>T c.(4918-4920)CTC>CTT p.L1640L DOCK7_uc001dan.2_Silent_p.L1501L|DOCK7_uc001dao.2_Silent_p.L1501L|DOCK7_uc001dap.2_Silent_p.L1618L|DOCK7_uc001dam.2_Silent_p.L820L|DOCK7_uc010oov.1_Silent_p.L379L NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1649 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 GAATCATATGGAGATTGAAAA 0.333 NA 3 20 0 0 0.004672 0 0 LRRC7 57554 broad.mit.edu 37 1 70489004 70489004 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:70489004C>T uc001dep.2 + 15 1657 c.1627C>T c.(1627-1629)CCA>TCA p.P543S LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 543 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CATGTGTACTCCATTGCCAGT 0.542 NA 21 75 0 0 0.014323 0 0 LMO4 8543 broad.mit.edu 37 1 87805833 87805833 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:87805833T>C uc001dmi.2 + 4 1217 c.437T>C c.(436-438)ATC>ACC p.I146T LMO4_uc001dmj.2_Missense_Mutation_p.I146T NM_006769 NP_006760 P61968 LMO4_HUMAN LIM domain only 4 146 LIM zinc-binding 2. neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding 0 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) ACAGCTCTCATCAATGGCCAT 0.438 NA 18 58 0 0 0.008871 0 0 PRMT6 55170 broad.mit.edu 37 1 107600045 107600045 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:107600045C>G uc010ous.1 + 1 779 c.708C>G c.(706-708)ATC>ATG p.I236M NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 236 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) ACTCGGAGATCGTTGTGCAGG 0.672 NA 10 70 0 0 0.010729 0 0 SLC6A17 388662 broad.mit.edu 37 1 110714814 110714814 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:110714814G>T uc009wfq.2 + 3 880 c.419G>T c.(418-420)GGG>GTG p.G140V NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 140 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) CCCCGCCTGGGGGGCATCGGC 0.632 NA 6 10 3.59834e-05 3.96762e-05 0.001168 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367750 145367750 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:145367750G>T uc001end.3 + 85 10606 c.10571G>T c.(10570-10572)GGA>GTA p.G3524V NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3449 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) aaaagaaggggaagaagatca 0.249 NA 10 47 1.76689e-08 2.06659e-08 0.006214 1 0 LOC200030 200030 broad.mit.edu 37 1 148017573 148017573 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:148017573G>A uc001eqf.2 - 12 1765 c.1730C>T c.(1729-1731)TCG>TTG p.S577L LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc009wkf.1_RNA|NBPF14_uc001eqq.2_Missense_Mutation_p.S237L|NBPF14_uc001eqs.1_Missense_Mutation_p.S116L NM_017940 NP_060410 Q86T75 NBPFB_HUMAN hypothetical protein LOC55672 577 NBPF 3. cytoplasm 0 AGACTTGTACGAGGCCAACAT 0.478 NA 25 459 0 0 0.01441 0 0 FLG 2312 broad.mit.edu 37 1 152280700 152280700 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:152280700C>A uc001ezu.1 - 3 6698 c.6662G>T c.(6661-6663)AGA>ATA p.R2221I NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2221 Ser-rich.|Filaggrin 13. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGTGAGTGTCTAGAGCTGTC 0.547 NA Ichthyosis 138 203 2.30743e-64 3.37353e-64 0.01441 1 0 UBAP2L 9898 broad.mit.edu 37 1 154207096 154207096 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:154207096G>T uc001fep.3 + 5 476 c.309G>T c.(307-309)AAG>AAT p.K103N UBAP2L_uc009wot.2_Missense_Mutation_p.K103N|UBAP2L_uc010pek.1_Missense_Mutation_p.K102N|UBAP2L_uc010pel.1_Missense_Mutation_p.K102N|UBAP2L_uc001fen.1_Missense_Mutation_p.K102N|UBAP2L_uc010pem.1_Missense_Mutation_p.K102N|UBAP2L_uc010pen.1_Missense_Mutation_p.K6N NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 103 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGAAGAAGAAGGGAGTCTCAG 0.507 NA 14 29 4.93089e-13 6.17364e-13 0.00245 1 0 NES 10763 broad.mit.edu 37 1 156639370 156639370 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:156639370C>T uc001fpq.2 - 4 4743 c.4610G>A c.(4609-4611)GGC>GAC p.G1537D NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1537 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGACCCTGGCCATTAACACC 0.582 NA 26 69 0 0 0.003954 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156910211 156910211 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:156910211C>T uc001fqo.2 - 35 4441 c.3401G>A c.(3400-3402)GGG>GAG p.G1134E ARHGEF11_uc010phu.1_Missense_Mutation_p.G550E|ARHGEF11_uc001fqn.2_Missense_Mutation_p.G1174E NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1134 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCTGGGACCCAGTGCCTGT 0.602 NA 8 53 0 0 0.004482 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576407 158576407 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158576407A>T uc010pio.1 + 1 179 c.179A>T c.(178-180)TAC>TTC p.Y60F NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) ACCCCCATGTACCTCTTCCTT 0.517 NA 45 195 0 0 0.01441 0 0 SPTA1 6708 broad.mit.edu 37 1 158613152 158613152 + Nonsense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158613152T>A uc001fst.1 - 31 4601 c.4402A>T c.(4402-4404)AAA>TAA p.K1468* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1468 Spectrin 14. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATCTCTTCTTTGGCATAGTGT 0.443 NA 20 36 0 0 0.012319 0 0 SPTA1 6708 broad.mit.edu 37 1 158646039 158646039 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158646039G>T uc001fst.1 - 8 1203 c.1004C>A c.(1003-1005)CCT>CAT p.P335H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 335 Spectrin 4. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TGCATCTGAAGGATGGGAAAG 0.483 NA 42 82 3.4345e-17 4.59924e-17 0.011902 1 0 OR6K6 128371 broad.mit.edu 37 1 158725561 158725561 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158725561T>A uc001fsw.1 + 1 956 c.956T>A c.(955-957)CTG>CAG p.L319Q NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 319 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) ATCTATAGCCTGAAAAACAAG 0.433 NA 17 65 0 0 0.006122 0 0 PYHIN1 149628 broad.mit.edu 37 1 158911901 158911901 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158911901G>A uc001ftb.2 + 5 959 c.714G>A c.(712-714)ATG>ATA p.M238I PYHIN1_uc001ftc.2_Missense_Mutation_p.M229I|PYHIN1_uc001ftd.2_Missense_Mutation_p.M238I|PYHIN1_uc001fte.2_Missense_Mutation_p.M229I NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 238 HIN-200. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) AAAGAAGAATGTTTCATGCTA 0.328 NA 14 21 0 0 0.003163 0 0 IFI16 3428 broad.mit.edu 37 1 158986358 158986358 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158986358C>A uc001ftf.1 + 5 1024 c.417C>A c.(415-417)CCC>CCA p.P139P IFI16_uc001ftg.2_Silent_p.P139P|IFI16_uc010pis.1_Intron NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 139 Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) AGGCTGGACCCAAAGGGAGTA 0.478 NA 18 27 6.94344e-10 8.35383e-10 0.006122 1 0 LAMC1 3915 broad.mit.edu 37 1 183090875 183090875 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:183090875G>C uc001gpy.3 + 12 2265 c.2008G>C c.(2008-2010)GAT>CAT p.D670H NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 670 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATATTTGGATGATGTCACCCT 0.473 NA 3 29 0 0 0.009096 0 0 TPR 7175 broad.mit.edu 37 1 186344044 186344044 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:186344044C>T uc001grv.2 - 1 414 c.117G>A c.(115-117)CTG>CTA p.L39L C1orf27_uc001grw.2_5'Flank|C1orf27_uc010poq.1_5'Flank|C1orf27_uc010por.1_5'Flank|TPR_uc010pop.1_Silent_p.L115L NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 39 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GCCGCCCCTTCAGGCCATCGA 0.537 NA T NTRK1 papillary thyroid 34 39 0 0 0.003755 0 0 CFH 3075 broad.mit.edu 37 1 196712628 196712628 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:196712628G>T uc001gtj.3 + 20 3420 c.3180G>T c.(3178-3180)GTG>GTT p.V1060V NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1060 Sushi 18. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CTTATATAGTGTCGAGACAGA 0.388 NA 29 28 3.99451e-17 5.33371e-17 0.009535 1 0 F13B 2165 broad.mit.edu 37 1 197021789 197021789 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:197021789C>T uc001gtt.1 - 9 1574 c.1530G>A c.(1528-1530)GTG>GTA p.V510V NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 510 Sushi 8. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AAGGATATTTCACTTCTCCTC 0.323 NA 5 44 0 0 0.000602 0 0 ASPM 259266 broad.mit.edu 37 1 197074087 197074087 + Silent SNP T T G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:197074087T>G uc001gtu.2 - 18 4551 c.4294A>C c.(4294-4296)AGA>CGA p.R1432R ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1432 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTCCATTTTCTGAACATAGAT 0.313 NA 9 48 0 0 0.004482 0 0 IPO9 55705 broad.mit.edu 37 1 201839778 201839778 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:201839778A>G uc001gwz.2 + 18 2251 c.2201A>G c.(2200-2202)GAG>GGG p.E734G NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 734 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 TGGCATGATGAGCAGGGCCAC 0.582 NA 15 51 0 0 0.00245 0 0 LGR6 59352 broad.mit.edu 37 1 202287145 202287145 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:202287145G>A uc001gxu.2 + 18 1714 c.1714G>A c.(1714-1716)GTG>ATG p.V572M LGR6_uc001gxv.2_Missense_Mutation_p.V520M|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.V433M NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 572 Helical; Name=1; (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 GTGGGCCATCGTGTTGCTCTC 0.612 NA 18 73 0 0 0.00499 0 0 CENPF 1063 broad.mit.edu 37 1 214818194 214818194 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:214818194G>C uc001hkm.2 + 13 5455 c.5281G>C c.(5281-5283)GAT>CAT p.D1761H NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1857 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GGTACCTATGGATTTCCTGGG 0.408 Colon(80;575 1284 11000 14801 43496) NA 13 39 0 0 0.00245 0 0 ZNF678 339500 broad.mit.edu 37 1 227843036 227843036 + Nonsense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:227843036C>G uc001hqw.1 + 4 1430 c.1085C>G c.(1084-1086)TCA>TGA p.S362* ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 417 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) ACTCAATTCTCAAACCTCACT 0.383 NA 5 37 0 0 0.000602 0 0 WNT9A 7483 broad.mit.edu 37 1 228112026 228112026 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:228112026G>T uc001hri.2 - 3 516 c.428C>A c.(427-429)GCG>GAG p.A143E NM_003395 NP_003386 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, 143 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) CATGCGGCCCGCGCTGCACGC 0.652 NA 30 67 7.38237e-10 8.85884e-10 0.00632 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232601073 232601074 + Missense_Mutation DNP TC TC AA TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:232601073_232601074TC>AA uc001hvg.2 - 7 2490_2491 c.2332_2333GA>TT c.(2332-2334)GAC>TTC p.D778F SIPA1L2_uc001hvf.2_5'Flank NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 778 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TAAAAGGAAGTCCCGGAACACG 0.45 NA 16 94 0 0 0.004672 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394715 233394715 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:233394715C>T uc001hvl.2 - 5 1128 c.893G>A c.(892-894)CGG>CAG p.R298Q PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 298 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GCTTTGTACCCGTTCCCTTAT 0.552 NA 7 83 0 0 0.001984 0 0 ARID4B 51742 broad.mit.edu 37 1 235359370 235359370 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:235359370C>A uc001hwq.2 - 18 2400 c.1902G>T c.(1900-1902)AAG>AAT p.K634N ARID4B_uc001hwr.2_Missense_Mutation_p.K548N|ARID4B_uc001hws.3_Missense_Mutation_p.K548N|ARID4B_uc001hwp.2_5'Flank|ARID4B_uc001hwt.3_Missense_Mutation_p.K315N NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 634 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GATGTTTTATCTTTGGCACAT 0.269 NA 4 18 0.00909568 0.00942198 0.009096 1 0 RYR2 6262 broad.mit.edu 37 1 237756921 237756921 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:237756921G>T uc001hyl.1 + 33 4541 c.4421G>T c.(4420-4422)GGA>GTA p.G1474V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1474 Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATGAAAAAGGAAAAGTGCAT 0.383 NA 11 38 3.07112e-06 3.47759e-06 0.010729 1 0 RYR2 6262 broad.mit.edu 37 1 237774159 237774159 + Missense_Mutation SNP T T G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:237774159T>G uc001hyl.1 + 36 4901 c.4781T>G c.(4780-4782)GTC>GGC p.V1594G NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1594 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGTCACACGTCCTGTGGAGC 0.547 NA 4 19 0 0 0.000602 0 0 ZP4 57829 broad.mit.edu 37 1 238050811 238050811 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:238050811T>C uc001hym.2 - 5 604 c.604A>G c.(604-606)AAC>GAC p.N202D LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 202 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GAGGTCACGTTCCGAGACACA 0.527 NSCLC(166;160 2029 11600 18754 19936) NA 43 74 0 0 0.01441 0 0 ZP4 57829 broad.mit.edu 37 1 238051760 238051760 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:238051760T>C uc001hym.2 - 4 451 c.451A>G c.(451-453)AGA>GGA p.R151G LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 151 P-type.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CATGGCAGTCTGTCCCGTGCT 0.478 NSCLC(166;160 2029 11600 18754 19936) NA 22 60 0 0 0.00278 0 0 OR6F1 343169 broad.mit.edu 37 1 247875228 247875228 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:247875228A>T uc001idj.1 - 1 830 c.830T>A c.(829-831)CTG>CAG p.L277Q NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CACAGTGTTCAGGACGTGGAC 0.453 NA 31 63 0 0 0.008361 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129095 248129095 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:248129095G>T uc010pzd.1 + 1 462 c.462G>T c.(460-462)AAG>AAT p.K154N OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 154 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGAGCAAGAAGATCTGCTGCC 0.443 Melanoma(45;390 1181 23848 28461 41504) NA 67 121 2.18419e-29 3.12414e-29 0.01441 1 0 OR2T2 401992 broad.mit.edu 37 1 248616271 248616271 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:248616271C>A uc001iek.1 + 1 173 c.173C>A c.(172-174)ACA>AAA p.T58K NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 58 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGCCTCCACACACCCATGTAC 0.512 NA 26 128 1.22674e-20 1.72266e-20 0.00874 1 0 SLC39A12 221074 broad.mit.edu 37 10 18331726 18331726 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:18331726G>T uc001ipo.2 + 13 2313 c.2040G>T c.(2038-2040)CTG>CTT p.L680L SLC39A12_uc001ipn.2_Silent_p.L643L|SLC39A12_uc001ipp.2_Silent_p.L679L|SLC39A12_uc010qck.1_Silent_p.L546L NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 680 Poly-Leu.|Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TTTCTCTCCTGCTCTTGGCTA 0.343 NA 6 27 4.096e-09 4.8898e-09 0.001168 1 0 PTCHD3 374308 broad.mit.edu 37 10 27687694 27687694 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:27687694C>G uc001itu.2 - 4 1951 c.1833G>C c.(1831-1833)TTG>TTC p.L611F NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 611 Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TTATGATGTACAAAACATATA 0.368 NA 5 26 0 0 0.000602 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37454056 37454056 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:37454056C>A uc001iza.1 + 18 1968 c.1869C>A c.(1867-1869)GAC>GAA p.D623E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 679 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AACAAAAGGACTATGAAGAAA 0.294 NA 12 25 7.03913e-09 8.36009e-09 0.013537 1 0 NRG3 10718 broad.mit.edu 37 10 84711230 84711230 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:84711230G>A uc001kco.2 + 5 1087 c.1060G>A c.(1060-1062)GAA>AAA p.E354K NRG3_uc010qlz.1_Missense_Mutation_p.E353K|NRG3_uc001kcp.2_Missense_Mutation_p.E133K|NRG3_uc001kcq.2_Missense_Mutation_p.E4K|NRG3_uc001kcr.2_Missense_Mutation_p.E4K NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 354 Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CACAGAGAGTGAAGAAGTTTA 0.403 NA 9 23 0 0 0.006214 0 0 PSD 5662 broad.mit.edu 37 10 104174961 104174961 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:104174961G>A uc001kvg.1 - 4 1310 c.783C>T c.(781-783)CCC>CCT p.P261P PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.P261P NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 261 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GTGGAGATGGGGGGGCCTGCT 0.622 NA 27 13 0 0 0.00632 0 0 LRDD 55367 broad.mit.edu 37 11 799896 799896 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:799896C>A uc001lro.1 - 15 2535 c.2393G>T c.(2392-2394)CGT>CTT p.R798L SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.R781L|LRDD_uc001lrl.1_Missense_Mutation_p.R641L|LRDD_uc001lrm.1_Missense_Mutation_p.R485L|LRDD_uc001lrn.1_Missense_Mutation_p.R641L|LRDD_uc001lrp.1_3'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 798 Death. apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGACCCAGACGCCCAGCCAC 0.692 NA 3 28 6.4e-05 7.00664e-05 0.004672 1 0 OR51V1 283111 broad.mit.edu 37 11 5221760 5221760 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:5221760C>A uc010qyz.1 - 1 171 c.171G>T c.(169-171)GTG>GTT p.V57V NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 57 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGTCCATATCACATGGAGAA 0.527 NA 22 21 5.35356e-11 6.54324e-11 0.00278 1 0 OR52B2 255725 broad.mit.edu 37 11 6190980 6190980 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:6190980C>T uc010qzy.1 - 1 577 c.577G>A c.(577-579)GAC>AAC p.D193N NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAGTGATGTCAGCACAGGCT 0.488 NSCLC(5;186 261 1778 7098 14207) NA 11 5 0 0 0.008291 0 0 HPX 3263 broad.mit.edu 37 11 6462124 6462124 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:6462124T>A uc001mdg.2 - 1 131 c.70A>T c.(70-72)ACC>TCC p.T24S HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Missense_Mutation_p.T24S NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 24 O-glycosylated at one, two and three sites. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGAAGAGGGGTGGCAATGGCC 0.572 NA 9 10 0 0 0.010729 0 0 BTBD10 84280 broad.mit.edu 37 11 13443224 13443224 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:13443224C>T uc001mkz.2 - 3 520 c.263G>A c.(262-264)AGA>AAA p.R88K BTBD10_uc010rcl.1_Missense_Mutation_p.R96K|BTBD10_uc001mla.2_Missense_Mutation_p.R72K|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.R40K|BTBD10_uc010rcn.1_Missense_Mutation_p.R57K|BTBD10_uc009ygo.2_Missense_Mutation_p.R40K NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 88 nucleus 0 Epithelial(150;0.0214) AGTCACATTTCTAATACAAGG 0.398 NA 6 24 0 0 0.001984 0 0 INSC 387755 broad.mit.edu 37 11 15260566 15260566 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:15260566C>A uc001mly.2 + 11 1526 c.1480C>A c.(1480-1482)CTG>ATG p.L494M INSC_uc001mlz.2_Missense_Mutation_p.L447M|INSC_uc001mma.2_Missense_Mutation_p.L447M|INSC_uc010rcs.1_Missense_Mutation_p.L482M|INSC_uc001mmb.2_Missense_Mutation_p.L447M|INSC_uc001mmc.2_Missense_Mutation_p.L405M NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 494 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TGCAGTGACCCTGGCTCGTCT 0.602 NA 23 7 1.90627e-21 2.68505e-21 0.012319 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16863110 16863110 + Nonsense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:16863110G>A uc001mmo.2 - 9 871 c.856C>T c.(856-858)CGA>TGA p.R286* PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.R286* NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 286 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 AGTGACGATCGAGACAGCACC 0.567 NA 6 55 0 0 0.004482 0 0 FANCF 2188 broad.mit.edu 37 11 22646799 22646799 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:22646799G>A uc001mql.1 - 1 589 c.558C>T c.(556-558)GCC>GCT p.A186A NM_022725 NP_073562 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 186 DNA repair nucleoplasm protein binding skin(1) 1 TGAGAAACCTGGCGGGACGCT 0.622 NA N|F AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 42 0 0 0.01441 0 0 PHF21A 51317 broad.mit.edu 37 11 45967443 45967443 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:45967443G>A uc001ncc.3 - 14 2021 c.1397C>T c.(1396-1398)ACT>ATT p.T466I PHF21A_uc001ncb.3_Intron|PHF21A_uc009ykx.2_Intron|PHF21A_uc001nce.2_Missense_Mutation_p.T467I|PHF21A_uc001nca.1_Missense_Mutation_p.T202I NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 466 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 TGCAGGGAAAGTGAATGTGGT 0.507 NA 7 64 0 0 0.001984 0 0 OR4A47 403253 broad.mit.edu 37 11 48510625 48510625 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:48510625C>G uc010rhx.1 + 1 281 c.281C>G c.(280-282)TCT>TGT p.S94C NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCCTTCCAATCTTGCATGGCC 0.438 NA 17 120 0 0 0.007413 0 0 OR4A47 403253 broad.mit.edu 37 11 48510902 48510902 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:48510902C>T uc010rhx.1 + 1 558 c.558C>T c.(556-558)GTC>GTT p.V186V NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGAAACTGGTCTGCACTGACA 0.433 NA 22 125 0 0 0.00278 0 0 OR4A16 81327 broad.mit.edu 37 11 55111023 55111023 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:55111023T>A uc010rie.1 + 1 347 c.347T>A c.(346-348)ATG>AAG p.M116K NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TTGGTGGTGATGGCCTATGAT 0.458 NA 29 124 0 0 0.008361 0 0 OR4C6 219432 broad.mit.edu 37 11 55433179 55433179 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:55433179G>T uc001nht.3 + 3 802 c.537G>T c.(535-537)TTG>TTT p.L179F OR4C6_uc010rik.1_Missense_Mutation_p.L179F NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TATGTGATTTGTTTCAGTTGT 0.433 NA 35 60 9.04072e-19 1.2431e-18 0.003271 1 0 OR10AG1 282770 broad.mit.edu 37 11 55735495 55735495 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:55735495C>G uc010rit.1 - 1 445 c.445G>C c.(445-447)GGG>CGG p.G149R NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) CATGTTTCCCCAATTACTACA 0.408 NA 13 34 0 0 0.013537 0 0 OR8K3 219473 broad.mit.edu 37 11 56085854 56085854 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:56085854G>T uc010rjf.1 + 1 72 c.72G>T c.(70-72)CAG>CAT p.Q24H NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) CTGAGCTGCAGGCACCATTAT 0.433 NA 32 62 1.88708e-17 2.54922e-17 0.008361 1 0 CLP1 10978 broad.mit.edu 37 11 57428602 57428602 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:57428602G>A uc001nkw.2 + 3 1111 c.972G>A c.(970-972)GTG>GTA p.V324V CLP1_uc010rjw.1_Silent_p.V260V|CLP1_uc009yml.2_Silent_p.V324V NM_006831 NP_006822 Q92989 CLP1_HUMAN ATP/GTP-binding protein isoform 1 324 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity ovary(1) 1 TTTCAGATGTGAAAATCTACA 0.468 NA 32 152 0 0 0.003271 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799084 57799084 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:57799084G>T uc010rjz.1 + 1 660 c.660G>T c.(658-660)GTG>GTT p.V220V OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 220 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) TCATTGCTGTGTCCTATGGCA 0.562 NA 26 80 7.92952e-12 9.76917e-12 0.003954 1 0 OR10W1 81341 broad.mit.edu 37 11 58034596 58034596 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:58034596G>T uc001nmq.1 - 1 1137 c.735C>A c.(733-735)TGC>TGA p.C245* NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C245*(1) ovary(1) 1 Breast(21;0.0589) TGAAGGCACAGCAGCCATACT 0.592 NA 17 64 4.14922e-12 5.1255e-12 0.004007 1 0 OR5A1 219982 broad.mit.edu 37 11 59211268 59211268 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:59211268C>T uc001nnx.1 + 1 627 c.627C>T c.(625-627)GTC>GTT p.V209V NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 TGGTCACTGTCGGAGGAACAT 0.527 NA 39 146 0 0 0.004289 0 0 PRPF19 27339 broad.mit.edu 37 11 60658701 60658701 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:60658701C>G uc001nqf.2 - 16 1659 c.1452G>C c.(1450-1452)GGG>GGC p.G484G NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 484 WD 7. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 TGGCGTGATGCCCGAAGGCCA 0.542 NA 15 22 0 0 0.004007 0 0 PRPF19 27339 broad.mit.edu 37 11 60666723 60666723 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:60666723G>A uc001nqf.2 - 11 1089 c.882C>T c.(880-882)CCC>CCT p.P294P NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 294 WD 2. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 AAGAGGCATTGGGGACCGACC 0.517 NA OREG0020994 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 47 0 0 0.008291 0 0 DAK 26007 broad.mit.edu 37 11 61110123 61110123 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:61110123G>A uc001nre.2 + 9 1025 c.768G>A c.(766-768)GTG>GTA p.V256V DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.V186V NM_015533 NP_056348 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 256 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding 0 ATGTGCCTGTGCAGCCCGGTG 0.607 NA 21 51 0 0 0.010504 0 0 NRXN2 9379 broad.mit.edu 37 11 64418777 64418777 + Silent SNP C C A rs116802246 by1000genomes TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:64418777C>A uc001oar.2 - 15 3307 c.2868G>T c.(2866-2868)CTG>CTT p.L956L NRXN2_uc001oas.2_Silent_p.L916L|NRXN2_uc001oaq.2_Silent_p.L623L NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCGAGTTGAACAGAAGAAGCC 0.592 NA OREG0004037|OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 40 6.49762e-13 8.06962e-13 0.006122 1 0 C11orf30 56946 broad.mit.edu 37 11 76227220 76227220 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:76227220C>G uc001oxl.2 + 11 1691 c.1548C>G c.(1546-1548)AGC>AGG p.S516R C11orf30_uc001oxm.2_Missense_Mutation_p.S432R|C11orf30_uc010rsb.1_Missense_Mutation_p.S531R|C11orf30_uc010rsc.1_Missense_Mutation_p.S531R|C11orf30_uc001oxn.2_Missense_Mutation_p.S517R|C11orf30_uc010rsd.1_Missense_Mutation_p.S530R NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 516 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 CAACAGTGAGCCCATCCATTG 0.443 NA 15 89 0 0 0.00499 0 0 ODZ4 26011 broad.mit.edu 37 11 78431415 78431415 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:78431415C>T uc001ozl.3 - 25 4284 c.3821G>A c.(3820-3822)AGT>AAT p.S1274N NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1274 NHL 2.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GTTGGCTTACCTATGTCTGAA 0.443 NA 21 58 0 0 0.014323 0 0 HEPHL1 341208 broad.mit.edu 37 11 93834393 93834393 + Missense_Mutation SNP G G A rs142611571 by1000genomes TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:93834393G>A uc001pep.2 + 14 2624 c.2467G>A c.(2467-2469)GTC>ATC p.V823I uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 823 Plastocyanin-like 5.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GGGCAACACCGTCCTGATCAT 0.448 NA 20 86 0 0 0.010504 0 0 DSCAML1 57453 broad.mit.edu 37 11 117376278 117376278 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:117376278C>A uc001prh.1 - 9 2135 c.2133G>T c.(2131-2133)ATG>ATT p.M711I NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 651 Extracellular (Potential).|Ig-like C2-type 7. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCAGGGAGCTCATGAATTCCT 0.602 NA 13 42 5.50884e-06 6.17739e-06 0.013537 1 0 IL10RA 3587 broad.mit.edu 37 11 117869812 117869812 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:117869812A>T uc001prv.2 + 7 1270 c.1193A>T c.(1192-1194)CAG>CTG p.Q398L IL10RA_uc010rxl.1_Missense_Mutation_p.Q378L|IL10RA_uc010rxm.1_Missense_Mutation_p.Q378L|IL10RA_uc010rxn.1_Missense_Mutation_p.Q249L|IL10RA_uc001prw.2_Missense_Mutation_p.Q249L NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 398 Cytoplasmic (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) AGCAGGGGCCAGGATGACAGT 0.647 NA 19 23 0 0 0.010504 0 0 BSX 390259 broad.mit.edu 37 11 122848574 122848574 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:122848574C>T uc010rzs.1 - 3 485 c.485G>A c.(484-486)CGG>CAG p.R162Q NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 162 Homeobox. 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) ATGCTTCATCCGCCGGTTCTG 0.532 NA 15 64 0 0 0.00245 0 0 HSPA8 3312 broad.mit.edu 37 11 122930391 122930391 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:122930391C>T uc001pyo.2 - 5 988 c.910G>A c.(910-912)GAA>AAA p.E304K HSPA8_uc009zbc.2_Missense_Mutation_p.E68K|HSPA8_uc001pyp.2_Missense_Mutation_p.E304K|HSPA8_uc010rzu.1_Missense_Mutation_p.E227K|HSPA8_uc009zbd.1_Missense_Mutation_p.E304K NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 304 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCATTCAGTTCTTCAAATCGG 0.488 Colon(21;486 594 5900 6733 14272) NA 13 51 0 0 0.013537 0 0 OR8B8 26493 broad.mit.edu 37 11 124310805 124310805 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:124310805C>A uc010sal.1 - 1 177 c.177G>T c.(175-177)ATG>ATT p.M59I NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GGAAGAAGTACATAGGGGTGT 0.448 NA 7 57 0.000157383 0.000170683 0.00308 1 0 NFRKB 4798 broad.mit.edu 37 11 129746708 129746708 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:129746708C>T uc001qfi.2 - 17 1856 c.1655G>A c.(1654-1656)GGC>GAC p.G552D NFRKB_uc001qfg.2_Missense_Mutation_p.G577D|NFRKB_uc001qfh.2_Missense_Mutation_p.G575D|NFRKB_uc010sbw.1_Missense_Mutation_p.G562D|NFRKB_uc009zcr.2_5'Flank NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 552 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GTCAAACACGCCCTTCACTGG 0.582 NA 30 40 0 0 0.008361 0 0 KCNA6 3742 broad.mit.edu 37 12 4920657 4920657 + Nonsense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:4920657C>T uc001qng.2 + 1 2316 c.1450C>T c.(1450-1452)CAG>TAG p.Q484* NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 484 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CACTTGTGGGCAGCCTGCGCC 0.607 NA HNSCC(72;0.22) 14 33 0 0 0.00245 0 0 A2ML1 144568 broad.mit.edu 37 12 8995922 8995922 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:8995922G>A uc001quz.3 + 12 1539 c.1441G>A c.(1441-1443)GCA>ACA p.A481T A2ML1_uc001qva.1_Missense_Mutation_p.A61T|A2ML1_uc010sgm.1_5'Flank NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 325 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 CCCGGCCGATGCAAGCCCTGA 0.562 NA 12 24 0 0 0.010729 0 0 FAM60A 58516 broad.mit.edu 37 12 31440662 31440662 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:31440662T>C uc010sjz.1 - 5 651 c.412A>G c.(412-414)AGT>GGT p.S138G FAM60A_uc001rkd.2_Missense_Mutation_p.S138G|FAM60A_uc010ska.1_Missense_Mutation_p.S138G|FAM60A_uc001rke.2_Missense_Mutation_p.S138G|FAM60A_uc010skb.1_RNA|FAM60A_uc001rkc.2_Missense_Mutation_p.S163G NM_021238 NP_067061 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 138 0 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) GACTGGTTACTGTAACAAGGA 0.378 NA 10 8 0 0 0.008291 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43896082 43896082 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:43896082C>G uc010skx.1 - 4 740 c.740G>C c.(739-741)AGA>ACA p.R247T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 247 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCTGGAATGTCTTCTTTCATC 0.338 NA 12 42 0 0 0.010729 0 0 SLC4A8 9498 broad.mit.edu 37 12 51856190 51856190 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:51856190G>C uc001rys.1 + 10 1376 c.1198G>C c.(1198-1200)GAG>CAG p.E400Q SLC4A8_uc010sni.1_Missense_Mutation_p.E347Q|SLC4A8_uc001rym.2_Missense_Mutation_p.E347Q|SLC4A8_uc001ryn.2_Missense_Mutation_p.E347Q|SLC4A8_uc001ryo.2_Missense_Mutation_p.E347Q|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.1_Missense_Mutation_p.E427Q|SLC4A8_uc001ryq.3_Missense_Mutation_p.E400Q|SLC4A8_uc001ryr.2_Missense_Mutation_p.E400Q|SLC4A8_uc010snk.1_Missense_Mutation_p.E347Q NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 400 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) CCCTCCAGGAGAGTGGGATCC 0.493 NA 10 41 0 0 0.008291 0 0 ESYT1 23344 broad.mit.edu 37 12 56536636 56536636 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:56536636C>T uc001sjq.2 + 27 2956 c.2906C>T c.(2905-2907)GCC>GTC p.A969V ESYT1_uc001sjr.2_Missense_Mutation_p.A979V NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 969 integral to membrane ovary(4)|skin(1) 5 GAGGCTCCAGCCGGGCCTCTG 0.522 NA 3 48 0 0 0.004672 0 0 SDR9C7 121214 broad.mit.edu 37 12 57327928 57327928 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:57327928G>T uc010sqw.1 - 1 118 c.118C>A c.(118-120)CTG>ATG p.L40M NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 40 NADP (By similarity). cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 TTGGCCAGCAGGTTCCCGAAG 0.537 NA 9 18 1.76689e-08 2.06659e-08 0.006214 1 0 GPR182 11318 broad.mit.edu 37 12 57389146 57389146 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:57389146C>A uc001smk.2 + 2 247 c.153C>A c.(151-153)ACC>ACA p.T51T RDH16_uc010sqx.1_Intron NM_007264 NP_009195 O15218 GP182_HUMAN G protein-coupled receptor 182 51 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(1) 1 GCCAGAGCACCAAGCGCGTGG 0.592 NA 36 70 2.47316e-13 3.10489e-13 0.003271 1 0 STAT6 6778 broad.mit.edu 37 12 57490729 57490729 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:57490729G>A uc009zpe.2 - 21 2509 c.2258C>T c.(2257-2259)GCT>GTT p.A753V STAT6_uc009zpf.2_Missense_Mutation_p.A753V|STAT6_uc001sna.2_Missense_Mutation_p.A753V|STAT6_uc010srb.1_Missense_Mutation_p.A643V|STAT6_uc010src.1_Missense_Mutation_p.A643V|STAT6_uc010srd.1_Missense_Mutation_p.A643V|STAT6_uc009zpg.2_Missense_Mutation_p.A802V NM_003153 NP_003144 P42226 STAT6_HUMAN signal transducer and activator of transcription 753 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 GCTGGACACAGCATGCTCCTG 0.612 NA 3 51 0 0 0.009096 0 0 INHBE 83729 broad.mit.edu 37 12 57850009 57850009 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:57850009G>T uc001snw.2 + 2 655 c.431G>T c.(430-432)CGA>CTA p.R144L NM_031479 NP_113667 P58166 INHBE_HUMAN activin beta E precursor 144 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1) 3 AGGATCTTCCGATGGGGACCA 0.617 GBM(191;1808 2166 15720 36624 50371) NA OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 154 3.80469e-20 5.29448e-20 0.009535 1 0 FRS2 10818 broad.mit.edu 37 12 69967839 69967839 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:69967839A>G uc001suy.2 + 10 1141 c.631A>G c.(631-633)AGT>GGT p.S211G FRS2_uc001suz.2_Missense_Mutation_p.S211G|FRS2_uc009zrj.2_Missense_Mutation_p.S211G|FRS2_uc009zrk.2_Missense_Mutation_p.S211G NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 211 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AAACCGCACAAGTGTGCATGT 0.408 NA 7 44 0 0 0.001984 0 0 TPH2 121278 broad.mit.edu 37 12 72388341 72388341 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:72388341C>A uc009zrw.1 + 8 1205 c.1064C>A c.(1063-1065)GCC>GAC p.A355D TPH2_uc001swy.2_Missense_Mutation_p.A265D NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 355 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) CAGAAACTAGCCACGGTGAGT 0.393 NA 17 15 4.7546e-09 5.66141e-09 0.004007 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85438563 85438563 + Silent SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:85438563A>G uc001tac.2 + 4 423 c.312A>G c.(310-312)GAA>GAG p.E104E LRRIQ1_uc001tab.1_Silent_p.E104E|LRRIQ1_uc001taa.1_Silent_p.E104E|LRRIQ1_uc001tad.2_Silent_p.E12E NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 104 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) CTGAATATGAAGAAAGTTCAG 0.264 NA 5 12 0 0 0.000602 0 0 FGD6 55785 broad.mit.edu 37 12 95603981 95603981 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:95603981T>A uc001tdp.3 - 2 1303 c.1079A>T c.(1078-1080)AAA>ATA p.K360I FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 360 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 AACACTGATTTTATTGATTTT 0.373 NA 18 45 0 0 0.00499 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100453175 100453175 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:100453175A>C uc001tgq.2 - 14 2109 c.1880T>G c.(1879-1881)TTT>TGT p.F627C UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.F277C NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 627 ovary(2) 2 AAAGTCTTGAAACAAAGCTTC 0.358 NA 5 25 0 0 0.001168 0 0 ARL1 400 broad.mit.edu 37 12 101790284 101790284 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:101790284G>A uc001tib.2 - 5 557 c.408C>T c.(406-408)TCC>TCT p.S136S ARL1_uc010svn.1_Silent_p.S90S|ARL1_uc010svo.1_Intron|ARL1_uc001tic.2_Silent_p.S136S NM_001177 NP_001168 P40616 ARL1_HUMAN ADP-ribosylation factor-like 1 136 small GTPase mediated signal transduction Golgi membrane enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding central_nervous_system(1) 1 Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163) GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125) CCATCTCTGAGGAAGTCATGG 0.413 NA 15 74 0 0 0.00499 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105467760 105467760 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:105467760C>T uc001tlc.2 - 2 199 c.72G>A c.(70-72)AAG>AAA p.K24K ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 24 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 TTAGTGCCAACTTCAGCTTGT 0.388 NA 15 55 0 0 0.004007 0 0 POLR3B 55703 broad.mit.edu 37 12 106786859 106786859 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:106786859G>T uc001tlp.2 + 10 996 c.774G>T c.(772-774)GAG>GAT p.E258D POLR3B_uc001tlq.2_Missense_Mutation_p.E200D NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 258 E -> A (in Ref. 1; AAM18214). innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TTGGAACAGAGGAGCACGTGA 0.463 NA 26 62 6.32553e-13 7.89837e-13 0.004656 1 0 ACAD10 80724 broad.mit.edu 37 12 112182571 112182571 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:112182571G>T uc001tsq.2 + 13 2039 c.1839G>T c.(1837-1839)CCG>CCT p.P613P ACAD10_uc001tsp.2_Silent_p.P613P|ACAD10_uc009zvx.2_Silent_p.P644P|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 613 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 TCACAAATCCGTTAACAAGGT 0.532 NA 19 41 1.67942e-08 1.97931e-08 0.006122 1 0 RASAL1 8437 broad.mit.edu 37 12 113559399 113559399 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:113559399C>A uc001tum.1 - 6 636 c.343G>T c.(343-345)GAA>TAA p.E115* RASAL1_uc010syp.1_Nonsense_Mutation_p.E115*|RASAL1_uc001tul.2_Nonsense_Mutation_p.E115*|RASAL1_uc001tun.1_Nonsense_Mutation_p.E115*|RASAL1_uc010syq.1_Nonsense_Mutation_p.E115*|RASAL1_uc001tuo.3_Nonsense_Mutation_p.E115*|RASAL1_uc010syr.1_Nonsense_Mutation_p.E115* NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 115 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 CCCTGCACTTCTGCATCTGGG 0.468 NA 4 58 0.00909568 0.00942198 0.009096 1 0 FBXO21 23014 broad.mit.edu 37 12 117595761 117595761 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:117595761C>G uc001twk.2 - 10 1494 c.1455G>C c.(1453-1455)GAG>GAC p.E485D FBXO21_uc001twj.2_Missense_Mutation_p.E478D|FBXO21_uc009zwq.2_Missense_Mutation_p.E418D|FBXO21_uc001twl.1_Missense_Mutation_p.E98D NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 485 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CTACGCCCACCTCCTCCTTTT 0.577 GBM(168;452 2038 13535 17701 43680) NA 33 150 0 0 0.004289 0 0 RAB35 11021 broad.mit.edu 37 12 120546238 120546238 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:120546238G>A uc001txm.1 - 2 231 c.86C>T c.(85-87)GCA>GTA p.A29V RAB35_uc009zww.1_5'UTR|RAB35_uc010szh.1_Missense_Mutation_p.A29V NM_006861 NP_006852 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 29 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) AGTGTTGTCTGCAAAACGCAA 0.572 NA 3 27 0 0 0.009096 0 0 RSRC2 65117 broad.mit.edu 37 12 123003488 123003488 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:123003488C>G uc001ucr.2 - 4 442 c.296G>C c.(295-297)AGA>ACA p.R99T RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.R40T|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.R51T|RSRC2_uc001ucu.2_Missense_Mutation_p.R99T NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 99 Ser-rich. ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TAGTCGCTCTCTTCCTTTATC 0.378 NA 4 152 0 0 0.009096 0 0 DHX37 57647 broad.mit.edu 37 12 125449154 125449154 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:125449154C>G uc001ugy.2 - 15 1930 c.1831G>C c.(1831-1833)GAG>CAG p.E611Q NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 611 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CGAGTCCCCTCCGGTGGAGGC 0.542 NA 5 65 0 0 0.000602 0 0 PIWIL1 9271 broad.mit.edu 37 12 130845802 130845802 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:130845802C>A uc001uik.2 + 15 1833 c.1743C>A c.(1741-1743)ACC>ACA p.T581T PIWIL1_uc001uij.1_Silent_p.T581T NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 581 RNA-binding (By similarity).|Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ATTGCCCTACCCCAAGTCAGT 0.453 NA 7 33 5.18039e-06 5.83742e-06 0.00308 1 0 FLT3 2322 broad.mit.edu 37 13 28588591 28588591 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr13:28588591C>T uc001urw.2 - 23 2939 c.2857G>A c.(2857-2859)GCG>ACG p.A953T FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.A912T NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 953 Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.A953V(1) haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTACATACCGCTTCTTCTGCA 0.418 NA Mis|O AML|ALL 5 10 0 0 0.001168 0 0 TRPC4 7223 broad.mit.edu 37 13 38211107 38211107 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr13:38211107C>T uc001uws.2 - 11 3102 c.2867G>A c.(2866-2868)AGT>AAT p.S956N TRPC4_uc010abv.2_Missense_Mutation_p.S536N|TRPC4_uc001uwt.2_Missense_Mutation_p.S872N|TRPC4_uc010tey.1_Missense_Mutation_p.S815N|TRPC4_uc010abw.2_Missense_Mutation_p.S783N|TRPC4_uc010abx.2_Missense_Mutation_p.S961N|TRPC4_uc010aby.2_Missense_Mutation_p.S807N NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 956 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ATAGTCTATACTAGAGTCCTC 0.438 NA 14 22 0 0 0.001855 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455574 84455574 + Silent SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr13:84455574A>T uc001vlk.2 - 1 955 c.69T>A c.(67-69)GTT>GTA p.V23V NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 23 LRRNT.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCTCTTTGCAAACGTCCCCTG 0.473 NA 21 17 0 0 0.014323 0 0 RAP2A 5911 broad.mit.edu 37 13 98086961 98086961 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr13:98086961C>T uc001vnd.2 + 1 487 c.237C>T c.(235-237)ATC>ATT p.I79I NM_021033 NP_066361 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family precursor 79 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1) 1 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) AGGGCTTCATCCTCGTCTACA 0.632 NA 11 49 0 0 0.008291 0 0 OR4M1 441670 broad.mit.edu 37 14 20249415 20249415 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:20249415G>T uc010tku.1 + 1 934 c.934G>T c.(934-936)GAG>TAG p.E312* NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGTGTGAAGAGAAGTGAAA 0.358 NA 8 16 0.00307968 0.00325586 0.00308 1 0 OR10G2 26534 broad.mit.edu 37 14 22102534 22102534 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:22102534G>T uc010tmc.1 - 1 465 c.465C>A c.(463-465)GTC>GTA p.V155V NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TGGAGCCGGCGACCCAAGCTC 0.562 NA 33 33 2.85442e-18 3.89009e-18 0.010818 1 0 CMTM5 116173 broad.mit.edu 37 14 23847972 23847972 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:23847972C>T uc010akm.2 + 3 818 c.374C>T c.(373-375)CCC>CTC p.P125L CMTM5_uc001wjs.2_Intron|CMTM5_uc001wjt.2_Intron|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 125 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GGCTTGACCCCCCCGGGCTGG 0.647 NA 4 19 0 0 0.009096 0 0 NFATC4 4776 broad.mit.edu 37 14 24839538 24839538 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:24839538C>T uc001wpc.2 + 2 1255 c.934C>T c.(934-936)CCT>TCT p.P312S NFATC4_uc010tok.1_Missense_Mutation_p.P375S|NFATC4_uc010tol.1_Missense_Mutation_p.P375S|NFATC4_uc010alr.2_Missense_Mutation_p.P375S|NFATC4_uc010als.2_Missense_Mutation_p.P325S|NFATC4_uc010tom.1_Missense_Mutation_p.P325S|NFATC4_uc010ton.1_Missense_Mutation_p.P325S|NFATC4_uc010too.1_Missense_Mutation_p.P325S|NFATC4_uc010alt.2_Missense_Mutation_p.P344S|NFATC4_uc010top.1_Missense_Mutation_p.P344S|NFATC4_uc010toq.1_Missense_Mutation_p.P344S|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.P312S|NFATC4_uc010tos.1_Missense_Mutation_p.P242S|NFATC4_uc010tot.1_Missense_Mutation_p.P300S|NFATC4_uc010tou.1_Missense_Mutation_p.P242S|NFATC4_uc010tov.1_Missense_Mutation_p.P300S|NFATC4_uc010tow.1_Missense_Mutation_p.P242S|NFATC4_uc010alv.2_Missense_Mutation_p.P300S|NFATC4_uc010tox.1_Missense_Mutation_p.P242S|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 312 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) CCCGGGCTCCCCTGGTCCCTT 0.677 NA 10 42 0 0 0.006214 0 0 BAZ1A 11177 broad.mit.edu 37 14 35262077 35262077 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:35262077C>T uc001wsk.2 - 12 1982 c.1414G>A c.(1414-1416)GAA>AAA p.E472K BAZ1A_uc001wsl.2_Missense_Mutation_p.E472K NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 472 DDT. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AAAAGCAATTCACACAGTGGG 0.383 NA 7 34 0 0 0.00308 0 0 ANGEL1 23357 broad.mit.edu 37 14 77255719 77255719 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:77255719T>C uc001xsv.2 - 10 1978 c.1865A>G c.(1864-1866)TAT>TGT p.Y622C uc001xsu.1_5'Flank|ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 622 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) TCCATCTCGATACAGCCTGTG 0.557 NA 40 24 0 0 0.00623 0 0 C15orf2 23742 broad.mit.edu 37 15 24923368 24923368 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr15:24923368C>A uc001ywo.2 + 1 2828 c.2354C>A c.(2353-2355)TCT>TAT p.S785Y NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 785 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CAGAAAACCTCTCTCCCCAGT 0.547 NA 64 66 8.81991e-31 1.26941e-30 0.01441 1 0 HERC2 8924 broad.mit.edu 37 15 28389852 28389852 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr15:28389852G>C uc001zbj.2 - 72 11213 c.11107C>G c.(11107-11109)CGC>GGC p.R3703G NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3703 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACGGTGAAGCGCCAGCCCCAG 0.567 NA 11 32 0 0 0.001855 0 0 RPL4 6124 broad.mit.edu 37 15 66795792 66795792 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr15:66795792C>A uc002apv.2 - 2 135 c.79G>T c.(79-81)GTA>TTA p.V27L RPL4_uc010bhr.2_5'UTR|RPL4_uc002apw.2_5'UTR|RPL4_uc002apx.2_5'UTR|RPL4_uc010ujq.1_Missense_Mutation_p.V27L|SNORD18C_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|SNORD16_uc010bht.2_5'Flank|SNORD18A_uc002apz.1_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.2_5'Flank|ZWILCH_uc002aqa.2_5'Flank|ZWILCH_uc010bhv.2_5'Flank NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 27 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 GCCTTGAATACAGCAGGCAAA 0.443 NA 13 21 6.81908e-15 8.89947e-15 0.00245 1 0 C15orf59 388135 broad.mit.edu 37 15 74032288 74032288 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr15:74032288G>T uc002avy.2 - 2 1197 c.852C>A c.(850-852)GCC>GCA p.A284A NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 284 pancreas(1) 1 TCTGTCTAGTGGCTGTGTAGG 0.527 NA 57 97 1.3268e-25 1.8861e-25 0.01441 1 0 FAM173A 65990 broad.mit.edu 37 16 771923 771923 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:771923C>T uc002cje.2 + 3 507 c.390C>T c.(388-390)CGC>CGT p.R130R NM_023933 NP_076422 Q9BQD7 F173A_HUMAN hypothetical protein LOC65990 130 integral to membrane pancreas(1) 1 TCTGCTATCGCCGCAAGGATC 0.721 NA 6 6 0 0 0.001168 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291244 1291244 + Missense_Mutation SNP A A G rs150845192 TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:1291244A>G uc002ckz.2 + 3 204 c.152A>G c.(151-153)CAC>CGC p.H51R TPSAB1_uc010uux.1_5'UTR NM_003294 NP_003285 Q15661 TRYB1_HUMAN tryptase alpha/beta 1 precursor 51 Peptidase S1. defense response|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) CTGAGAGTCCACGGCCCATAC 0.711 NA 3 52 0 0 0.009096 0 0 TMEM204 79652 broad.mit.edu 37 16 1584550 1584550 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:1584550G>A uc002cmc.2 + 2 672 c.274G>A c.(274-276)GTC>ATC p.V92I IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.V92I|TMEM204_uc010brr.1_Missense_Mutation_p.V92I NM_024600 NP_078876 Q9BSN7 TM204_HUMAN transmembrane protein 204 92 Extracellular (Potential). response to stress adherens junction|integral to membrane 0 Hepatocellular(780;0.219) CCGAGGCACCGTCAAACGTAA 0.667 NA 22 66 0 0 0.010504 0 0 GRIN2A 2903 broad.mit.edu 37 16 9934621 9934621 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:9934621G>A uc002czo.3 - 7 2082 c.1534C>T c.(1534-1536)CTC>TTC p.L512F GRIN2A_uc010uym.1_Missense_Mutation_p.L512F|GRIN2A_uc010uyn.1_Missense_Mutation_p.L355F|GRIN2A_uc002czr.3_Missense_Mutation_p.L512F NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 512 Extracellular (Potential).|Glutamate binding (By similarity). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGATGGTGAGCGAGCCAACT 0.443 NA 10 28 0 0 0.008291 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273919 10273919 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:10273919G>A uc002czo.3 - 2 898 c.350C>T c.(349-351)TCC>TTC p.S117F GRIN2A_uc010uym.1_Missense_Mutation_p.S117F|GRIN2A_uc002czr.3_Missense_Mutation_p.S117F|GRIN2A_uc010buk.2_Missense_Mutation_p.S117F NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 117 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTGTGGGAGGAGATAAAATC 0.607 NA 4 60 0 0 0.009096 0 0 MYH11 4629 broad.mit.edu 37 16 15865511 15865511 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:15865511G>A uc002ddy.2 - 9 1055 c.948C>T c.(946-948)CCC>CCT p.P316P MYH11_uc002ddv.2_Silent_p.P323P|MYH11_uc002ddw.2_Silent_p.P316P|MYH11_uc002ddx.2_Silent_p.P323P|MYH11_uc010bvg.2_Silent_p.P148P|MYH11_uc002dea.1_Silent_p.P22P NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 316 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CTGCTGGGATGGGCACAAAGC 0.517 NA T CBFB AML 15 41 0 0 0.004007 0 0 XYLT1 64131 broad.mit.edu 37 16 17211698 17211698 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:17211698C>T uc002dfa.2 - 11 2447 c.2362G>A c.(2362-2364)GTC>ATC p.V788I NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 788 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 ATGACATTGACGGGATCCACC 0.572 NA 14 52 0 0 0.001855 0 0 TMC5 79838 broad.mit.edu 37 16 19498557 19498557 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:19498557C>T uc002dgc.3 + 17 3231 c.2482C>T c.(2482-2484)CGG>TGG p.R828W TMC5_uc010vaq.1_Missense_Mutation_p.R776W|TMC5_uc002dgb.3_Missense_Mutation_p.R828W|TMC5_uc010var.1_Missense_Mutation_p.R828W|TMC5_uc002dgd.1_Missense_Mutation_p.R582W|TMC5_uc002dge.3_Missense_Mutation_p.R582W|TMC5_uc002dgf.3_Missense_Mutation_p.R511W|TMC5_uc002dgg.3_Missense_Mutation_p.R469W NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 828 Extracellular (Potential). integral to membrane skin(1) 1 CAAAGCCTGGCGGGCCTCACA 0.567 NA 25 19 0 0 0.00333 0 0 ITGAX 3687 broad.mit.edu 37 16 31372423 31372423 + Silent SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:31372423T>C uc002ebu.1 + 9 968 c.901T>C c.(901-903)TTA>CTA p.L301L ITGAX_uc002ebt.2_Silent_p.L301L|ITGAX_uc010vfk.1_5'Flank NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 301 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTGGAAAGAATTAAATGACAT 0.373 NA 3 79 0 0 0.004672 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485158 31485158 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:31485158C>A uc002ecd.1 + 4 211 c.185C>A c.(184-186)ACG>AAG p.T62K TGFB1I1_uc002ece.1_Missense_Mutation_p.T45K|TGFB1I1_uc010caq.1_5'UTR NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 62 Transcription activation (By similarity).|Interaction with PTK2B. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 CTTCCCAGCACGGTATGCAAG 0.647 NA 16 84 0.000422831 0.000453244 0.004007 1 0 TOX3 27324 broad.mit.edu 37 16 52497959 52497959 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:52497959C>T uc002egw.2 - 3 466 c.295G>A c.(295-297)GGA>AGA p.G99R TOX3_uc010vgt.1_Missense_Mutation_p.G94R|TOX3_uc010vgu.1_Missense_Mutation_p.G99R NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 99 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 AATTCACTTCCCTGGGAAGGC 0.532 NA 10 53 0 0 0.008291 0 0 TP53 7157 broad.mit.edu 37 17 7577573 7577573 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:7577573G>T uc002gim.2 - 7 902 c.708C>A c.(706-708)TAC>TAA p.Y236* TP53_uc002gig.1_Nonsense_Mutation_p.Y236*|TP53_uc002gih.2_Nonsense_Mutation_p.Y236*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Y104*|TP53_uc010cng.1_Nonsense_Mutation_p.Y104*|TP53_uc002gii.1_Nonsense_Mutation_p.Y104*|TP53_uc010cnh.1_Nonsense_Mutation_p.Y236*|TP53_uc010cni.1_Nonsense_Mutation_p.Y236*|TP53_uc002gij.2_Nonsense_Mutation_p.Y236*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Y143*|TP53_uc002gio.2_Nonsense_Mutation_p.Y104* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 236 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (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.Y236C(46)|p.Y236N(12)|p.Y236H(9)|p.Y236*(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236Y(2)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.N235_Y236delNY(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.I232_Y236delIHYNY(1)|p.Y236_M237>*L(1)|p.H233_C242del10(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) TGTTACACATGTAGTTGTAGT 0.577 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 18 14 2.94398e-08 3.42599e-08 0.007413 1 0 Unknown 0 broad.mit.edu 37 17 21731221 21731221 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:21731221A>T uc002gyy.3 + 2 648 c.523A>T c.(523-525)ATC>TTC p.I175F SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA CAGTGACACCATCGAAAATGT 0.547 NA 9 88 0 0 0.006214 0 0 CDK5R1 8851 broad.mit.edu 37 17 30815150 30815150 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:30815150C>G uc002hhn.2 + 2 733 c.512C>G c.(511-513)CCC>CGC p.P171R CDK5R1_uc010wca.1_Missense_Mutation_p.P171R|CDK5R1_uc010ctc.2_Intron NM_003885 NP_003876 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 171 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) CACCTGTCCCCCACGGACCCC 0.672 NA 7 75 0 0 0.001984 0 0 PIGW 284098 broad.mit.edu 37 17 34894229 34894229 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:34894229C>T uc002hmy.1 + 2 1322 c.1279C>T c.(1279-1281)CTA>TTA p.L427L MYO19_uc010wcy.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.L427L NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 427 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTCAGAATCTCTAGTCCCTGA 0.343 NA 21 46 0 0 0.008871 0 0 THRA 7067 broad.mit.edu 37 17 38244647 38244647 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:38244647G>T uc002htw.2 + 8 1359 c.876G>T c.(874-876)CTG>CTT p.L292L THRA_uc010cwp.1_Silent_p.L292L|THRA_uc002htv.2_Silent_p.L292L|THRA_uc002htx.2_Silent_p.L292L NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 292 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) ATGGCGGCCTGGGCGTAGTCT 0.607 NA 28 72 9.39395e-14 1.19231e-13 0.00632 1 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190856 39190856 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:39190856G>A uc002hvv.2 - 1 252 c.218C>T c.(217-219)CCA>CTA p.P73L NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 83 Missing (in allele KAP1.9). extracellular region|keratin filament structural constituent of epidermis 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGCAGCTTGGCTGGCAGCA 0.607 NA 30 47 0 0 0.007291 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478104 42478104 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:42478104C>A uc002igw.1 - 8 1405 c.1341G>T c.(1339-1341)AAG>AAT p.K447N GPATCH8_uc002igv.1_Missense_Mutation_p.K369N|GPATCH8_uc010wiz.1_Missense_Mutation_p.K369N NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 447 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TTGCTGCCGCCTTGATGCAGC 0.498 NA OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 130 9.98788e-38 1.44652e-37 0.01441 1 0 PLEKHM1 9842 broad.mit.edu 37 17 43555508 43555508 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:43555508G>C uc002ija.2 - 3 224 c.54C>G c.(52-54)ATC>ATG p.I18M PLEKHM1_uc010wjm.1_Intron|PLEKHM1_uc002ijb.2_Translation_Start_Site|PLEKHM1_uc010wjn.1_Intron|hsa-mir-4315-1|MI0015844_5'Flank|PLEKHM1_uc002ijd.1_Missense_Mutation_p.I18M NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 18 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) GCTTCTTCTTGATGACCTAGG 0.522 NA 3 74 0 0 0.000602 0 0 ITGB3 3690 broad.mit.edu 37 17 45376752 45376752 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:45376752C>G uc002ilj.2 + 11 1789 c.1769C>G c.(1768-1770)ACT>AGT p.T590S ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 590 Extracellular (Potential).|III.|Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|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|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) ACCACGCGTACTGACACCTGC 0.607 NA 46 80 0 0 0.01441 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47123696 47123696 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:47123696G>C uc002iom.2 + 14 1936 c.1602G>C c.(1600-1602)CAG>CAC p.Q534H IGF2BP1_uc010dbj.2_Missense_Mutation_p.Q395H NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 534 Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 4. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 AGAACGACCAGGTCATCGTGA 0.557 Esophageal Squamous(198;1041 2123 8248 37119 38268) NA 17 55 0 0 0.00499 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47241556 47241556 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:47241556C>A uc002ion.2 + 8 1112 c.1053C>A c.(1051-1053)ACC>ACA p.T351T B4GALNT2_uc010wlt.1_Silent_p.T265T|B4GALNT2_uc010wlu.1_Silent_p.T291T NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 351 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) CAGACTTGACCGTAATAGTGG 0.483 GBM(124;244 1635 8663 18097 33175) NA 55 134 9.59835e-30 1.37715e-29 0.01441 1 0 CACNA1G 8913 broad.mit.edu 37 17 48699156 48699156 + Splice_Site SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:48699156G>C uc002irk.1 + 35 6432 c.6060_splice c.e35+1 p.N2020_splice CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Splice_Site_p.N1997_splice|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Splice_Site_p.N1949_splice|CACNA1G_uc002iru.1_Splice_Site_p.N1986_splice|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Splice_Site_p.N1922_splice|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGAGAGCAATGTACATACACA 0.607 NA 5 35 0 0 0.000602 0 0 TRIM37 4591 broad.mit.edu 37 17 57109262 57109262 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:57109262G>A uc002iwy.3 - 18 2387 c.1943C>T c.(1942-1944)CCC>CTC p.P648L TRIM37_uc002iwz.3_Missense_Mutation_p.P648L|TRIM37_uc002ixa.3_Missense_Mutation_p.P526L|TRIM37_uc010woc.1_Missense_Mutation_p.P614L NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 648 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTTACCTGTGGGCTGCAGAAG 0.373 NA Mulibrey_Nanism 18 89 0 0 0.00499 0 0 DHX40 79665 broad.mit.edu 37 17 57647936 57647936 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:57647936C>T uc002ixn.1 + 3 485 c.338C>T c.(337-339)TCA>TTA p.S113L DHX40_uc010woe.1_Intron|DHX40_uc002ixo.1_Missense_Mutation_p.S14L NM_024612 NP_078888 Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 113 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GCTGCTATATCAGTTGCTCAG 0.373 NA 25 84 0 0 0.003954 0 0 KCNH6 81033 broad.mit.edu 37 17 61611628 61611628 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:61611628G>A uc002jay.2 + 5 1137 c.1057G>A c.(1057-1059)GCC>ACC p.A353T KCNH6_uc002jax.1_Missense_Mutation_p.A353T|KCNH6_uc010wpl.1_Missense_Mutation_p.A230T|KCNH6_uc010wpm.1_Missense_Mutation_p.A353T|KCNH6_uc002jaz.1_Missense_Mutation_p.A353T NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 353 Helical; Name=Segment S3; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CATGGTGGCCGCCATCCCTTT 0.622 NA 19 88 0 0 0.006122 0 0 HELZ 9931 broad.mit.edu 37 17 65104710 65104710 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:65104710T>C uc010wqk.1 - 30 4812 c.4625A>G c.(4624-4626)CAG>CGG p.Q1542R HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1541R|HELZ_uc010der.2_Missense_Mutation_p.Q85R NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGGAAGATGCTGGAGGTGAGG 0.582 NA 22 62 0 0 0.010504 0 0 DNAI2 64446 broad.mit.edu 37 17 72278023 72278023 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:72278023C>A uc002jkf.2 + 2 166 c.67C>A c.(67-69)CGC>AGC p.R23S DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 23 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 TTTCTCGGACCGCCAGGCCGA 0.617 NA Kartagener_syndrome 49 62 4.18559e-23 5.93172e-23 0.01441 1 0 MYOM1 8736 broad.mit.edu 37 18 3067287 3067287 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr18:3067287G>T uc002klp.2 - 38 5365 c.5031C>A c.(5029-5031)TCC>TCA p.S1677S MYOM1_uc002klq.2_Silent_p.S1581S NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1677 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CACCTTTCAGGGACTCCAAGG 0.587 NA 14 12 9.31168e-06 1.03913e-05 0.001855 1 0 MPPE1 65258 broad.mit.edu 37 18 11889438 11889438 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr18:11889438G>A uc002kqf.2 - 5 1083 c.442C>T c.(442-444)CAT>TAT p.H148Y MPPE1_uc002kqn.2_Missense_Mutation_p.H148Y|MPPE1_uc002kqg.2_RNA|MPPE1_uc002kqh.2_RNA|MPPE1_uc002kqi.2_RNA|MPPE1_uc002kqj.2_Missense_Mutation_p.H148Y|MPPE1_uc002kqk.2_Missense_Mutation_p.H148Y|MPPE1_uc002kql.2_Missense_Mutation_p.H148Y|MPPE1_uc002kqm.2_Missense_Mutation_p.H148Y|MPPE1_uc010dla.1_Missense_Mutation_p.H148Y NM_023075 NP_075563 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 precursor 148 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity 0 AGCTGTACATGACTTGGGTGT 0.483 NA 13 32 0 0 0.013537 0 0 ADNP2 22850 broad.mit.edu 37 18 77894189 77894189 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr18:77894189A>G uc002lnw.2 + 4 1348 c.893A>G c.(892-894)CAG>CGG p.Q298R NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 298 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GCTTTGCCACAGAACAGTCCA 0.602 NA 19 44 0 0 0.010504 0 0 ODF3L2 284451 broad.mit.edu 37 19 463978 463978 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:463978C>A uc002lor.2 - 4 972 c.736G>T c.(736-738)GAG>TAG p.E246* SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Nonsense_Mutation_p.E210* NM_182577 NP_872383 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 246 DUF1309 3. 0 GTGACCTGCTCTGGGCAGTGG 0.612 NA 10 13 2.17888e-05 2.42564e-05 0.006214 1 0 MUC16 94025 broad.mit.edu 37 19 9009600 9009600 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:9009600G>T uc002mkp.2 - 39 39330 c.39126C>A c.(39124-39126)GTC>GTA p.V13042V MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13044 Extracellular (Potential).|SEA 7. 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 GACCCTGCAGGACCCTCTCTG 0.552 NA 17 59 3.41278e-10 4.13833e-10 0.00499 1 0 MUC16 94025 broad.mit.edu 37 19 9065356 9065356 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:9065356G>C uc002mkp.2 - 3 22294 c.22090C>G c.(22090-22092)CAC>GAC p.H7364D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7366 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 ATCTCTGAGTGTGGCAATCTC 0.507 NA 10 25 0 0 0.006214 0 0 RAVER1 125950 broad.mit.edu 37 19 10439672 10439672 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:10439672C>T uc002moa.2 - 3 533 c.453G>A c.(451-453)CTG>CTA p.L151L NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 134 RRM 2. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TGGCCACACACAGCAGGGCAT 0.657 NA 3 6 0 0 0.004672 0 0 ZNF98 148198 broad.mit.edu 37 19 22575653 22575653 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:22575653G>T uc002nqt.2 - 4 506 c.384C>A c.(382-384)AGC>AGA p.S128R NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) ACTCATCCATGCTTTTACAGT 0.323 NA 5 18 3.59834e-05 3.96762e-05 0.001168 1 0 ZNF99 7652 broad.mit.edu 37 19 22941422 22941422 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:22941422C>T uc010xrh.1 - 5 1016 c.1016G>A c.(1015-1017)TGT>TAT p.C339Y NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGCTTTGCCACATTCTTCACA 0.368 NA 12 25 0 0 0.010729 0 0 ZFP14 57677 broad.mit.edu 37 19 36831589 36831589 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:36831589C>T uc002odx.1 - 4 1232 c.1139G>A c.(1138-1140)AGA>AAA p.R380K ZFP14_uc010xtd.1_Missense_Mutation_p.R381K|ZFP14_uc010eex.1_Missense_Mutation_p.R380K NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 380 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TAGTTGTTGTCTTAATCTAAA 0.373 NA 21 35 0 0 0.012319 0 0 LGALS14 56891 broad.mit.edu 37 19 40199884 40199884 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:40199884G>T uc002omg.2 + 4 574 c.351G>T c.(349-351)CCG>CCT p.P117P LGALS14_uc002omf.2_Silent_p.P146P NM_020129 NP_064514 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 isoform 117 Galectin. nucleus sugar binding ovary(1)|skin(1) 2 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) ATCGATTCCCGCCAGCATCTG 0.458 NA 11 37 3.07112e-06 3.47759e-06 0.010729 1 0 MEGF8 1954 broad.mit.edu 37 19 42853681 42853681 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:42853681G>A uc002otl.3 + 13 2763 c.2128G>A c.(2128-2130)GAG>AAG p.E710K MEGF8_uc002otm.3_Missense_Mutation_p.E318K NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 777 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GGCTCATCAGGAGAAGGAGAC 0.637 NA 8 25 0 0 0.00308 0 0 IRGC 56269 broad.mit.edu 37 19 44224056 44224056 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:44224056A>T uc002oxh.2 + 2 1493 c.1346A>T c.(1345-1347)AAG>ATG p.K449M NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 449 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CTCCTTCTTAAGTACATTCTG 0.557 Colon(189;350 2037 11447 13433 38914) NA 18 30 0 0 0.007413 0 0 ZNF222 7673 broad.mit.edu 37 19 44536246 44536246 + Nonsense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:44536246C>G uc002oyc.2 + 4 602 c.419C>G c.(418-420)TCA>TGA p.S140* ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Nonsense_Mutation_p.S180*|ZNF222_uc002oyd.2_Nonsense_Mutation_p.S86* NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) CAGTTATATTCAGGAGAGAAG 0.403 NA 23 72 0 0 0.012319 0 0 BCAM 4059 broad.mit.edu 37 19 45322414 45322414 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:45322414G>T uc002ozu.2 + 11 1482 c.1438G>T c.(1438-1440)GAC>TAC p.D480Y BCAM_uc002ozt.1_Missense_Mutation_p.D480Y NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 480 Extracellular (Potential).|Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CGGCCATCCAGACCCCAAACT 0.592 NA 23 77 2.52088e-20 3.51857e-20 0.00278 1 0 PTGIR 5739 broad.mit.edu 37 19 47124810 47124810 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:47124810G>T uc002pex.2 - 3 1001 c.888C>A c.(886-888)CGC>CGA p.R296R NM_000960 NP_000951 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 296 Cytoplasmic (Potential). cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) AGACAGCCTTGCGGAAAAGGA 0.632 NA 19 29 3.99206e-14 5.13741e-14 0.007413 1 0 ZNF534 147658 broad.mit.edu 37 19 52938390 52938390 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:52938390T>C uc002pzk.2 + 3 299 c.238T>C c.(238-240)TGG>CGG p.W80R ZNF534_uc002pzj.1_Missense_Mutation_p.W67R|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.W67R NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 80 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGATCCCTGGACTCTGCA 0.463 NA 7 20 0 0 0.00308 0 0 ZNF160 90338 broad.mit.edu 37 19 53572747 53572747 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:53572747C>T uc010eqk.2 - 7 1456 c.1040G>A c.(1039-1041)GGA>GAA p.G347E ZNF160_uc002qaq.3_Missense_Mutation_p.G347E|ZNF160_uc002qar.3_Missense_Mutation_p.G347E NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 347 C2H2-type 4. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) AAAGGCTTTTCCACACTCATT 0.403 NA 15 51 0 0 0.003163 0 0 CACNG6 59285 broad.mit.edu 37 19 54502940 54502940 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:54502940C>A uc002qct.2 + 3 1049 c.459C>A c.(457-459)GCC>GCA p.A153A CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 153 Helical; (Potential). voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CAGTCATGGCCTTGGGGTGCC 0.567 NA 110 127 3.60008e-62 5.2468e-62 0.01441 1 0 LILRB2 10288 broad.mit.edu 37 19 54783278 54783278 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:54783278G>A uc002qfb.2 - 5 846 c.580C>T c.(580-582)CAC>TAC p.H194Y LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.H194Y|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.H194Y|LILRB2_uc010yet.1_Missense_Mutation_p.H78Y|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 194 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TAGCACCTGTGCGACCACCTG 0.582 NA 30 78 0 0 0.009535 0 0 ZNF581 51545 broad.mit.edu 37 19 56156247 56156247 + Nonsense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:56156247C>T uc002qln.2 + 2 1026 c.310C>T c.(310-312)CGA>TGA p.R104* ZNF581_uc002qlq.2_Nonsense_Mutation_p.R104*|CCDC106_uc002qlr.2_5'Flank NM_016535 NP_057619 Q9P0T4 ZN581_HUMAN zinc finger protein 581 104 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CTACCTTCAGCGACACAGCAT 0.587 NA 23 71 0 0 0.00333 0 0 ZNF835 90485 broad.mit.edu 37 19 57176525 57176525 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:57176525C>T uc010ygo.1 - 2 108 c.108G>A c.(106-108)TTG>TTA p.L36L ZNF835_uc010ygn.1_Silent_p.L14L NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 AGTTTCCTTCCAACTCTGCGC 0.572 NA 12 30 0 0 0.010729 0 0 ZNF256 10172 broad.mit.edu 37 19 58453016 58453016 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:58453016G>T uc002qqu.2 - 3 1395 c.1160C>A c.(1159-1161)TCC>TAC p.S387Y ZNF256_uc010euj.2_Missense_Mutation_p.S234Y NM_005773 NP_005764 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 387 C2H2-type 7. multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) CTGGCTAAAGGATTTCCCACA 0.413 NSCLC(55;1313 1552 8040 11996) NA 8 38 0.00307968 0.00325586 0.00308 1 0 ZNF606 80095 broad.mit.edu 37 19 58490876 58490876 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:58490876G>C uc002qqw.2 - 7 1790 c.1172C>G c.(1171-1173)ACA>AGA p.T391R ZNF606_uc010yhp.1_Missense_Mutation_p.T301R NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) GTAAGTGCTTGTATGTTGAGT 0.373 NA 11 53 0 0 0.008291 0 0 SLC27A5 10998 broad.mit.edu 37 19 59022759 59022759 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:59022759C>G uc002qtc.2 - 1 674 c.564G>C c.(562-564)CTG>CTC p.L188L NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 188 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GCCACATACACAGGGCTGGAA 0.687 NA 8 7 0 0 0.00308 0 0 RRM2 6241 broad.mit.edu 37 2 10263558 10263558 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:10263558G>A uc002rah.2 + 3 410 c.219G>A c.(217-219)CTG>CTA p.L73L NM_001034 NP_001025 P31350 RIR2_HUMAN ribonucleotide reductase M2 polypeptide isoform 73 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) AGCCGCTGCTGAGAGAAAACC 0.517 NA 14 49 0 0 0.00245 0 0 GREB1 9687 broad.mit.edu 37 2 11758583 11758583 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:11758583C>G uc002rbk.1 + 22 3882 c.3582C>G c.(3580-3582)CCC>CCG p.P1194P GREB1_uc002rbp.1_Silent_p.P192P NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1194 Ser-rich. integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGCACAGTCCCGGGCCGACGC 0.716 Ovarian(39;850 945 2785 23371 33093) NA 4 9 0 0 0.009096 0 0 EHD3 30845 broad.mit.edu 37 2 31489255 31489255 + Silent SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:31489255A>T uc002rnu.2 + 6 1901 c.1293A>T c.(1291-1293)GGA>GGT p.G431G EHD3_uc010ymt.1_3'UTR NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 431 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) AGGGGGCTGGAGAAGGTATCG 0.627 NA 15 24 0 0 0.003163 0 0 EHBP1 23301 broad.mit.edu 37 2 63176238 63176238 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:63176238G>A uc002sby.2 + 14 2844 c.2362G>A c.(2362-2364)GAT>AAT p.D788N EHBP1_uc010fcp.2_Missense_Mutation_p.D753N|EHBP1_uc002sbz.2_Missense_Mutation_p.D753N|EHBP1_uc002scb.2_Missense_Mutation_p.D753N NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 788 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GACGGAGTCTGATCCAGATGC 0.353 NA Hereditary_Prostate_Cancer 15 32 0 0 0.00245 0 0 GFPT1 2673 broad.mit.edu 37 2 69565628 69565628 + Nonsense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:69565628T>A uc002sfh.2 - 13 1398 c.1219A>T c.(1219-1221)AGA>TGA p.R407* NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 425 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 GGTGTGTTTCTGTCCAGGAAG 0.398 NA 6 25 0 0 0.001168 0 0 FBXO41 150726 broad.mit.edu 37 2 73491152 73491152 + Silent SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:73491152G>C uc002sjb.1 - 7 2019 c.2019C>G c.(2017-2019)ACC>ACG p.T673T NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 612 intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 AGTGGGCCTGGGTGCACCACT 0.627 NA 5 4 0 0 0.000602 0 0 SEMA4C 54910 broad.mit.edu 37 2 97526514 97526514 + Nonsense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:97526514G>C uc002sxh.3 - 15 2511 c.2351C>G c.(2350-2352)TCA>TGA p.S784* ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Nonsense_Mutation_p.S284*|SEMA4C_uc002sxe.2_Nonsense_Mutation_p.S325*|SEMA4C_uc002sxg.3_Nonsense_Mutation_p.S837* NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 784 Cytoplasmic (Potential). muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity skin(2) 2 ATTGGCATTTGAGTTCCGCCC 0.667 NA 36 73 0 0 0.005524 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423166 107423166 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:107423166G>T uc002tdq.2 - 6 1677 c.1558C>A c.(1558-1560)CCT>ACT p.P520T ST6GAL2_uc002tdr.2_Missense_Mutation_p.P520T NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 520 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CTTGGTGCAGGGCAGTGCACC 0.507 NA 30 59 8.4185e-14 1.07738e-13 0.012213 1 0 GYPC 2995 broad.mit.edu 37 2 127453545 127453545 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:127453545G>T uc002tnq.2 + 4 370 c.214G>T c.(214-216)GTC>TTC p.V72F GYPC_uc002tnr.2_Missense_Mutation_p.V53F|GYPC_uc010flv.2_RNA NM_002101 NP_002092 P04921 GLPC_HUMAN glycophorin C isoform 1 72 Helical; Signal-anchor for type III membrane protein. cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1) 1 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) TGTGGCCATCGTCCTAGTCTC 0.607 Melanoma(110;806 1600 6704 9981 33404) NA 27 90 1.77063e-15 2.32395e-15 0.005443 1 0 ARHGAP15 55843 broad.mit.edu 37 2 144381787 144381787 + Silent SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:144381787T>A uc002tvm.3 + 12 1240 c.1089T>A c.(1087-1089)CCT>CCA p.P363P ARHGAP15_uc002tvn.2_Silent_p.P129P NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 363 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) GGGAGCTGCCTGAGCCGCTCT 0.507 NA 20 16 0 0 0.010504 0 0 GALNT5 11227 broad.mit.edu 37 2 158115703 158115703 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:158115703C>T uc002tzg.2 + 1 1364 c.1109C>T c.(1108-1110)TCA>TTA p.S370L GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 370 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 TCTTCCTCTTCACTTGCTCCA 0.413 NA 18 30 0 0 0.00499 0 0 UPP2 151531 broad.mit.edu 37 2 158974356 158974356 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:158974356C>A uc002tzp.2 + 4 554 c.360C>A c.(358-360)TCC>TCA p.S120S UPP2_uc002tzo.2_Silent_p.S177S NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 120 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 GCATCCCCTCCATTTCTATTA 0.418 NA 24 75 1.64293e-13 2.06822e-13 0.00333 1 0 KCNH7 90134 broad.mit.edu 37 2 163241415 163241415 + Silent SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:163241415A>G uc002uch.1 - 13 2957 c.2745T>C c.(2743-2745)GAT>GAC p.D915D NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 915 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) GTCTTATGGTATCTGCAGAGT 0.353 GBM(196;1492 2208 17507 24132 45496) NA 7 48 0 0 0.001984 0 0 HOXD12 3238 broad.mit.edu 37 2 176965464 176965465 + Nonsense_Mutation DNP GG GG AT TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:176965464_176965465GG>AT uc010zev.1 + 2 789_790 c.789_790GG>AT c.(787-792)CGGGAG>CGATAG p.E264* HOXD12_uc010zew.1_3'UTR NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 264 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) TGGTGCTTCGGGAGCAGGCGCT 0.589 NA 4 8 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179467165 179467165 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:179467165C>G uc010zfg.1 - 232 47484 c.47260G>C c.(47260-47262)GTA>CTA p.V15754L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V9449L|TTN_uc010zfi.1_Missense_Mutation_p.V9382L|TTN_uc010zfj.1_Missense_Mutation_p.V9257L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16681 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) GGTTCATTTACTCTTTTCCAG 0.423 NA 10 29 0 0 0.008291 0 0 ITGA4 3676 broad.mit.edu 37 2 182387061 182387061 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:182387061T>C uc002unu.2 + 18 2829 c.2066T>C c.(2065-2067)TTA>TCA p.L689S ITGA4_uc010frj.1_Missense_Mutation_p.L171S|ITGA4_uc002unv.2_5'UTR NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 689 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATTAAGATTTTAGAGCTGGTA 0.338 NA 25 15 0 0 0.004656 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174788 207174788 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:207174788C>T uc002vbp.2 + 5 5786 c.5536C>T c.(5536-5538)CTG>TTG p.L1846L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1846 nucleic acid binding|zinc ion binding ovary(3) 3 AATTAATGCTCTGGTGAAGGA 0.413 NA 13 23 0 0 0.013537 0 0 DYTN 391475 broad.mit.edu 37 2 207564891 207564892 + Missense_Mutation DNP GC GC AA TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:207564891_207564892GC>AA uc002vbr.1 - 6 649_650 c.532_533GC>TT c.(532-534)GCC>TTC p.A178F NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 178 plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GCTGCGGGTGGCACTTTCCACA 0.5 NA 6 50 0 0 0.004672 0 0 STK11IP 114790 broad.mit.edu 37 2 220478566 220478566 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:220478566G>C uc002vml.2 + 21 2706 c.2663G>C c.(2662-2664)CGG>CCG p.R888P NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 888 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGAGCCTGCGGCTAGAGTGG 0.667 NA 11 44 0 0 0.008291 0 0 C2orf57 165100 broad.mit.edu 37 2 232458229 232458229 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:232458229C>T uc002vrz.2 + 1 618 c.567C>T c.(565-567)ACC>ACT p.T189T NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 189 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CTGCCAGCACCACCAAGTCTG 0.582 NA 34 27 0 0 0.013726 0 0 ALPI 248 broad.mit.edu 37 2 233323045 233323045 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:233323045G>A uc002vst.3 + 9 1187 c.1110G>A c.(1108-1110)CTG>CTA p.L370L ALPI_uc002vsu.3_Silent_p.L281L NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 370 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) AGGACACGCTGACCCTCGTCA 0.617 NA 9 29 0 0 0.004482 0 0 DGKD 8527 broad.mit.edu 37 2 234359623 234359623 + Missense_Mutation SNP T T G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:234359623T>G uc002vui.1 + 17 2106 c.2094T>G c.(2092-2094)AGT>AGG p.S698R DGKD_uc002vuj.1_Missense_Mutation_p.S654R|DGKD_uc010fyh.1_Missense_Mutation_p.S565R|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 698 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CCCTAGGCAGTTCTGCTTCCC 0.567 NA 44 60 0 0 0.009718 0 0 INSM1 3642 broad.mit.edu 37 20 20350422 20350422 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:20350422T>C uc002wrx.2 + 1 1658 c.1511T>C c.(1510-1512)GTG>GCG p.V504A NM_002196 NP_002187 Q01101 INSM1_HUMAN insulinoma-associated 1 504 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0649) CTCCTGCAGGTGCCCGTGCGC 0.657 NA 5 24 0 0 0.000602 0 0 TGIF2 60436 broad.mit.edu 37 20 35219609 35219609 + Silent SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:35219609A>G uc002xfn.2 + 3 662 c.489A>G c.(487-489)ACA>ACG p.T163T C20orf24_uc002xfo.2_Intron NM_021809 NP_068581 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 163 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1)|skin(1) 2 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CTGGTAGCACACTTACTCTGC 0.627 NA 18 63 0 0 0.00499 0 0 PREX1 57580 broad.mit.edu 37 20 47317347 47317347 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:47317347C>A uc002xtw.1 - 7 884 c.861G>T c.(859-861)CAG>CAT p.Q287H NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 287 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AGGCCCTTTCCTGGATGTTGC 0.562 NA 41 109 2.95478e-19 4.08715e-19 0.00874 1 0 ZFP64 55734 broad.mit.edu 37 20 50768964 50768964 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:50768964C>G uc002xwl.2 - 6 2116 c.1767G>C c.(1765-1767)ACG>ACC p.T589T ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.T587T|ZFP64_uc002xwn.2_Silent_p.T535T NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CACCTGAGGCCGTGGGGATGA 0.597 NA 24 34 0 0 0.00333 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870753 51870753 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:51870753C>A uc002xwo.2 + 2 1712 c.756C>A c.(754-756)CCC>CCA p.P252P NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 252 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AGCTCAGACCCACGAGCTATT 0.483 NA 9 29 0.00448238 0.00471722 0.004482 1 0 CHRNA4 1137 broad.mit.edu 37 20 61982135 61982135 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:61982135C>A uc002yes.2 - 5 806 c.628G>T c.(628-630)GTC>TTC p.V210F CHRNA4_uc002yet.1_Missense_Mutation_p.V34F|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.V139F|CHRNA4_uc002yev.1_Missense_Mutation_p.V34F|CHRNA4_uc010gkf.1_Missense_Mutation_p.V34F NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 210 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCCACGATGACCCACTCGCCA 0.597 NA 19 43 1.28384e-07 1.49029e-07 0.012319 1 0 CYYR1 116159 broad.mit.edu 37 21 27852738 27852738 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr21:27852738T>A uc002ymd.2 - 3 509 c.187A>T c.(187-189)ATT>TTT p.I63F CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.I63F NM_052954 NP_443186 Q96J86 CYYR1_HUMAN cysteine and tyrosine-rich 1 protein precursor 63 Helical; (Potential). integral to membrane 0 ATGCCCGCAATTGCAGTGCCC 0.423 NA 7 48 0 0 0.001984 0 0 MORC3 23515 broad.mit.edu 37 21 37741749 37741749 + Nonsense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr21:37741749C>T uc002yvi.2 + 15 2159 c.2083C>T c.(2083-2085)CAA>TAA p.Q695* NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 695 Potential. cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 TGCAGGCTGCCAATTACAAGA 0.398 NA 20 20 0 0 0.007413 0 0 ETS2 2114 broad.mit.edu 37 21 40191522 40191522 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr21:40191522C>T uc002yxg.2 + 8 1103 c.907C>T c.(907-909)CTG>TTG p.L303L ETS2_uc002yxf.2_Silent_p.L443L NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 303 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) GTCGTCCTTGCTGGATGTGCA 0.557 NA 16 17 0 0 0.003163 0 0 PKNOX1 5316 broad.mit.edu 37 21 44438242 44438242 + Splice_Site SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr21:44438242G>T uc002zcq.1 + 7 811 c.623_splice c.e7-1 p.G208_splice PKNOX1_uc002zcp.1_Splice_Site_p.G208_splice|PKNOX1_uc011aex.1_Splice_Site_p.G91_splice NM_004571 NP_004562 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 sequence-specific DNA binding large_intestine(2) 2 TCCCTTTCGAGGTGGCACAGT 0.383 NA 25 16 5.35047e-06 6.0144e-06 0.00333 1 0 C22orf36 388886 broad.mit.edu 37 22 24981999 24981999 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:24981999C>T uc003aaq.2 - 4 832 c.803G>A c.(802-804)AGC>AAC p.S268N GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA NM_207644 NP_997527 Q2VPJ9 LRC6X_HUMAN hypothetical protein LOC388886 268 0 GGTGCGCTGGCTCAGCCGCCG 0.687 NA 16 66 0 0 0.003163 0 0 SLC35E4 339665 broad.mit.edu 37 22 31032948 31032948 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:31032948T>C uc003ais.1 + 1 1156 c.511T>C c.(511-513)TGC>CGC p.C171R SLC35E4_uc003ait.2_Missense_Mutation_p.C159R NM_001001479 NP_001001479 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 171 DUF6.|Leu-rich. integral to membrane 0 GGGTCCGCTCTGCCTGGGGGC 0.687 NA 3 31 0 0 0.004672 0 0 DEPDC5 9681 broad.mit.edu 37 22 32188070 32188070 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:32188070T>A uc003als.2 + 11 818 c.676T>A c.(676-678)TAT>AAT p.Y226N DEPDC5_uc011als.1_Missense_Mutation_p.Y226N|DEPDC5_uc011alu.1_Missense_Mutation_p.Y226N|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.Y226N|DEPDC5_uc003alr.1_Missense_Mutation_p.Y226N|DEPDC5_uc011alt.1_Missense_Mutation_p.Y198N NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 226 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 TAGAACTTTCTATGATGCAAA 0.388 NA 16 17 0 0 0.004007 0 0 DEPDC5 9681 broad.mit.edu 37 22 32239157 32239157 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:32239157G>T uc003als.2 + 28 2707 c.2565G>T c.(2563-2565)ACG>ACT p.T855T DEPDC5_uc011als.1_Silent_p.T786T|DEPDC5_uc011alu.1_Silent_p.T864T|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.T855T|DEPDC5_uc003alu.2_Silent_p.T304T|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Silent_p.T185T|DEPDC5_uc003alw.2_Silent_p.T153T|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 855 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 ACAAAGTGACGCTGAAGGATA 0.433 NA 17 26 3.41278e-10 4.13833e-10 0.00499 1 0 TOB2 10766 broad.mit.edu 37 22 41833088 41833088 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:41833088C>T uc003azz.1 - 2 969 c.262G>A c.(262-264)GAG>AAG p.E88K NM_016272 NP_057356 Q14106 TOB2_HUMAN transducer of ERBB2, 2 88 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus ovary(1) 1 CTCAGCTCCTCAGGCACATTG 0.592 NA 16 112 0 0 0.004007 0 0 ACO2 50 broad.mit.edu 37 22 41913580 41913580 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:41913580C>T uc003bac.2 + 7 907 c.885C>T c.(883-885)TCC>TCT p.S295S ACO2_uc003bad.2_Silent_p.S320S NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 295 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 CCACCACTTCCGTGTTCCCTT 0.622 NA OREG0026588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 47 0 0 0.009096 0 0 MPPED1 758 broad.mit.edu 37 22 43831029 43831029 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:43831029G>T uc011apv.1 + 3 523 c.300G>T c.(298-300)TCG>TCT p.S100S MPPED1_uc011apw.1_5'UTR|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Silent_p.S100S|MPPED1_uc011apz.1_Silent_p.S133S NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 100 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) ATACCCACTCGAGGACGGACC 0.627 NA 44 82 9.84934e-19 1.35027e-18 0.010771 1 0 CELSR1 9620 broad.mit.edu 37 22 46860009 46860009 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:46860009C>T uc003bhw.1 - 2 3778 c.3778G>A c.(3778-3780)GTG>ATG p.V1260M NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1260 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAGAAGGTCACGTTCAGGATG 0.637 NA 13 56 0 0 0.001855 0 0 FBLN2 2199 broad.mit.edu 37 3 13670462 13670462 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:13670462A>G uc011avb.1 + 11 2611 c.2486A>G c.(2485-2487)AAC>AGC p.N829S FBLN2_uc011auz.1_Missense_Mutation_p.N855S|FBLN2_uc011ava.1_Missense_Mutation_p.N876S|FBLN2_uc011avc.1_Missense_Mutation_p.N876S NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 829 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGCTGCATCAACACGGTGGGC 0.632 NA 4 9 0 0 0.009096 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307243 39307243 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:39307243A>T uc003cjl.2 - 2 850 c.758T>A c.(757-759)CTG>CAG p.L253Q NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 253 Helical; Name=6; (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) AAGCGTCTCCAGGAAAATCAT 0.468 NA 37 23 0 0 0.005524 0 0 CACNA1D 776 broad.mit.edu 37 3 53757478 53757478 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:53757478C>T uc003dgv.3 + 13 1847 c.1684C>T c.(1684-1686)CTC>TTC p.L562F CACNA1D_uc003dgu.3_Missense_Mutation_p.L582F|CACNA1D_uc003dgy.3_Missense_Mutation_p.L562F|CACNA1D_uc003dgw.3_Missense_Mutation_p.L229F NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 562 II.|Helical; Name=S2 of repeat II; (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CAACAAAGTCCTCTTGGCTCT 0.512 NA 17 31 0 0 0.006122 0 0 CADM2 253559 broad.mit.edu 37 3 86010666 86010666 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:86010666C>A uc003dqj.2 + 7 1438 c.812C>A c.(811-813)CCT>CAT p.P271H CADM2_uc003dqk.2_Missense_Mutation_p.P280H|CADM2_uc003dql.2_Missense_Mutation_p.P273H NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 271 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TTACCAGATCCTGACCGAATG 0.403 NA 17 33 6.44725e-10 7.7771e-10 0.014323 1 0 CD200R1L 344807 broad.mit.edu 37 3 112538705 112538705 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:112538705C>A uc003dzi.1 - 5 943 c.717G>T c.(715-717)CTG>CTT p.L239L CD200R1L_uc011bhw.1_Silent_p.L218L|CD200R1L_uc010hqf.1_Silent_p.L218L NM_001008784 NP_001008784 Q6Q8B3 MO2R2_HUMAN CD200 cell surface glycoprotein receptor 2 239 Extracellular (Potential). integral to membrane receptor activity ovary(1) 1 AAAGAATGATCAGTAAGGACA 0.388 NA 11 32 1.58986e-06 1.81362e-06 0.008291 1 0 SEMA5B 54437 broad.mit.edu 37 3 122631807 122631807 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:122631807C>G uc003efz.1 - 18 2912 c.2608G>C c.(2608-2610)GAG>CAG p.E870Q SEMA5B_uc011bju.1_Missense_Mutation_p.E812Q|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E870Q|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 870 Extracellular (Potential).|TSP type-1 3. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) AAGCCCAGCTCGCAGTCCCGG 0.726 NA 9 37 0 0 0.004482 0 0 PDIA5 10954 broad.mit.edu 37 3 122849399 122849399 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:122849399C>T uc003egc.1 + 11 902 c.846C>T c.(844-846)ACC>ACT p.T282T PDIA5_uc003egd.1_Intron NM_006810 NP_006801 Q14554 PDIA5_HUMAN protein disulfide isomerase A5 precursor 282 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0427) ATCACCTGACCGATGAAGACT 0.582 NA 12 62 0 0 0.010729 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721990 135721990 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:135721990C>G uc003eqv.1 + 2 2215 c.1650C>G c.(1648-1650)ACC>ACG p.T550T PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 550 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 CCGGTCAGACCCTTGTAGATC 0.388 NA 7 23 0 0 0.001984 0 0 PRR23C 389152 broad.mit.edu 37 3 138762829 138762829 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:138762829G>A uc011bmt.1 - 1 906 c.634C>T c.(634-636)CGC>TGC p.R212C NM_001134657 NP_001128129 Q6ZRP0 PR23C_HUMAN proline rich 23C 212 Pro-rich. skin(1) 1 AAGATGGGGCGTGGAGAGCGT 0.647 NA 10 11 0 0 0.006214 0 0 XRN1 54464 broad.mit.edu 37 3 142141705 142141705 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:142141705T>C uc003eus.2 - 7 837 c.770A>G c.(769-771)TAT>TGT p.Y257C XRN1_uc003eut.2_Missense_Mutation_p.Y257C|XRN1_uc003euu.2_Missense_Mutation_p.Y257C|XRN1_uc003euv.1_Missense_Mutation_p.Y118C|XRN1_uc003euw.2_Missense_Mutation_p.Y257C|XRN1_uc011bnh.1_Missense_Mutation_p.Y47C NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 257 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 ATAGTCAATATACTCTCTCAT 0.328 NA 13 30 0 0 0.001855 0 0 SI 6476 broad.mit.edu 37 3 164700152 164700152 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:164700152C>A uc003fei.2 - 47 5356 c.5294G>T c.(5293-5295)AGT>ATT p.S1765I NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1765 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) CCTCGTTTCACTTTTATTTAT 0.333 NA HNSCC(35;0.089) 36 9 1.36239e-07 1.5775e-07 0.003271 1 0 GOLIM4 27333 broad.mit.edu 37 3 167750322 167750322 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:167750322G>A uc003ffe.2 - 9 1506 c.1162C>T c.(1162-1164)CAC>TAC p.H388Y GOLIM4_uc011bpe.1_Missense_Mutation_p.H388Y|GOLIM4_uc011bpf.1_Missense_Mutation_p.H360Y|GOLIM4_uc011bpg.1_Missense_Mutation_p.H360Y NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 388 Glu-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 GCACGCGCGTGCCCTTCCAGG 0.488 NA 6 170 0 0 0.001168 0 0 MCF2L2 23101 broad.mit.edu 37 3 183006944 183006944 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:183006944C>A uc003fli.1 - 14 1830 c.1740G>T c.(1738-1740)CGG>CGT p.R580R MCF2L2_uc003flj.1_Silent_p.R580R|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 580 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CTTCCTTTCCCCGGGAGTTCA 0.403 NA 4 34 0.00024832 0.0002668 0.009096 1 0 HGFAC 3083 broad.mit.edu 37 4 3447936 3447936 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:3447936G>C uc003ghc.2 + 10 1273 c.1270G>C c.(1270-1272)GCC>CCC p.A424P HGFAC_uc010icw.2_Missense_Mutation_p.A431P NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 424 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTGGCTGGCCGCCATCTACAT 0.697 NA 6 9 0 0 0.001168 0 0 CRMP1 1400 broad.mit.edu 37 4 5857888 5857888 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:5857888C>T uc003gip.2 - 5 561 c.460G>A c.(460-462)GTG>ATG p.V154M CRMP1_uc003gin.1_Missense_Mutation_p.V66M|CRMP1_uc003giq.2_Missense_Mutation_p.V154M|CRMP1_uc003gir.2_Missense_Mutation_p.V149M|CRMP1_uc003gis.2_Missense_Mutation_p.V268M NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 154 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) TGCACCAGCACCTCCAGCTCC 0.522 NA 10 49 0 0 0.010729 0 0 DRD5 1816 broad.mit.edu 37 4 9784944 9784944 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:9784944G>T uc003gmb.3 + 1 1687 c.1291G>T c.(1291-1293)GAG>TAG p.E431* NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 431 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CGACGAGGAGGAGGGTCCTTT 0.577 NA 13 42 4.3838e-07 5.0381e-07 0.001855 1 0 GBA3 57733 broad.mit.edu 37 4 22749486 22749486 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:22749486G>C uc003gqp.3 + 3 945 c.854G>C c.(853-855)AGG>ACG p.R285T GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.R286T NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 285 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 CCATCATCGAGGCTTCCAGAA 0.393 NA 10 23 0 0 0.006214 0 0 STIM2 57620 broad.mit.edu 37 4 27000912 27000912 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:27000912C>G uc003gsh.3 + 5 1045 c.829C>G c.(829-831)CAC>GAC p.H277D STIM2_uc003gsg.3_Missense_Mutation_p.H277D|STIM2_uc010iex.2_Missense_Mutation_p.H277D NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 190 SAM.|Extracellular (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) TGACCGGAGTCACAGACAAAA 0.368 NA 3 19 0 0 0.009096 0 0 PCDH7 5099 broad.mit.edu 37 4 30724395 30724395 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:30724395G>A uc003gsk.1 + 1 2359 c.1351G>A c.(1351-1353)GAC>AAC p.D451N PCDH7_uc011bxw.1_Missense_Mutation_p.D404N|PCDH7_uc011bxx.1_Missense_Mutation_p.D451N NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 451 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GTCCGACCGAGACCAAGGCGA 0.652 NA 3 32 0 0 0.004672 0 0 UGDH 7358 broad.mit.edu 37 4 39515741 39515741 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:39515741C>T uc003guk.1 - 3 542 c.226G>A c.(226-228)GAT>AAT p.D76N UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Missense_Mutation_p.D76N NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 76 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) ATGGCATCATCAATATTGGTA 0.289 NA 13 53 0 0 0.00245 0 0 N4BP2 55728 broad.mit.edu 37 4 40104480 40104480 + Nonsense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:40104480A>T uc003guy.3 + 4 1353 c.1015A>T c.(1015-1017)AAG>TAG p.K339* N4BP2_uc010ifq.2_Nonsense_Mutation_p.K259*|N4BP2_uc010ifr.2_Nonsense_Mutation_p.K259* NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 339 Pro-rich. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 AACTAAGGGGAAGGATGTGAG 0.512 NA 34 36 0 0 0.003271 0 0 REST 5978 broad.mit.edu 37 4 57796484 57796484 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:57796484A>T uc003hch.2 + 4 1807 c.1460A>T c.(1459-1461)CAG>CTG p.Q487L REST_uc003hci.2_Missense_Mutation_p.Q487L|REST_uc010ihf.2_Missense_Mutation_p.Q161L NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 487 Lys-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) TCAGTGATCCAGGTGACTACC 0.378 NA 7 28 0 0 0.001984 0 0 PRDM8 56978 broad.mit.edu 37 4 81123069 81123069 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:81123069G>T uc010ijo.2 + 8 1292 c.453G>T c.(451-453)GGG>GGT p.G151G PRDM8_uc003hmb.3_Silent_p.G151G|PRDM8_uc003hmc.3_Silent_p.G151G NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ACTAAGCAGGGTCGTCCCCTT 0.438 NA OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 54 1.64293e-13 2.06822e-13 0.00333 1 0 NPNT 255743 broad.mit.edu 37 4 106858224 106858224 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:106858224C>A uc003hya.2 + 4 529 c.324C>A c.(322-324)TAC>TAA p.Y108* NPNT_uc011cfc.1_Nonsense_Mutation_p.Y125*|NPNT_uc011cfd.1_Nonsense_Mutation_p.Y138*|NPNT_uc011cfe.1_Nonsense_Mutation_p.Y138*|NPNT_uc010ilt.1_Nonsense_Mutation_p.Y108*|NPNT_uc011cff.1_Nonsense_Mutation_p.Y108*|NPNT_uc010ilu.1_Nonsense_Mutation_p.Y4* NM_001033047 NP_001028219 Q6UXI9 NPNT_HUMAN nephronectin precursor 108 EGF-like 2; calcium-binding (Potential). cell differentiation membrane calcium ion binding skin(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TGAACACTTACGGCAGCTACA 0.448 NA 23 13 9.57634e-11 1.16735e-10 0.00333 1 0 TBCK 93627 broad.mit.edu 37 4 107016734 107016734 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:107016734C>G uc010ilv.2 - 25 2841 c.2476G>C c.(2476-2478)GGG>CGG p.G826R TBCK_uc003hyb.2_Missense_Mutation_p.G569R|TBCK_uc003hye.2_Missense_Mutation_p.G787R|TBCK_uc003hyc.2_Missense_Mutation_p.G763R|TBCK_uc003hyd.2_Missense_Mutation_p.G654R|TBCK_uc003hyf.2_Missense_Mutation_p.G826R NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 826 Rhodanese. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 GTAAGCTCCCCTTCTGCAGTG 0.463 NA 23 10 0 0 0.014323 0 0 SEC24B 10427 broad.mit.edu 37 4 110415918 110415918 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:110415918C>G uc003hzk.2 + 6 1449 c.1394C>G c.(1393-1395)ACA>AGA p.T465R SEC24B_uc003hzl.2_Missense_Mutation_p.T430R|SEC24B_uc011cfp.1_Missense_Mutation_p.T496R|SEC24B_uc011cfq.1_Missense_Mutation_p.T465R|SEC24B_uc011cfr.1_Missense_Mutation_p.T430R NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 465 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) GGCTATCCAACACTTCAGCCT 0.493 NA 19 38 0 0 0.006122 0 0 ANK2 287 broad.mit.edu 37 4 114277965 114277965 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:114277965G>A uc003ibe.3 + 38 8291 c.8191G>A c.(8191-8193)GGC>AGC p.G2731S ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.G33S|ANK2_uc011cgb.1_Missense_Mutation_p.G2746S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2698 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGAAGAGCCAGGCAAATCAGA 0.413 NA 19 34 0 0 0.006122 0 0 TRPC3 7222 broad.mit.edu 37 4 122835998 122835998 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:122835998C>T uc003ieg.2 - 4 1352 c.1278G>A c.(1276-1278)GTG>GTA p.V426V TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Silent_p.V353V|TRPC3_uc011cgl.1_Silent_p.V90V NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 341 Helical; (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 CCACGACCAGCACAACGAGAC 0.542 NA 8 14 0 0 0.006214 0 0 FHDC1 85462 broad.mit.edu 37 4 153897411 153897411 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:153897411A>T uc003inf.2 + 11 3043 c.2968A>T c.(2968-2970)AGG>TGG p.R990W NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 990 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) CAAACCACTCAGGAACCTCCC 0.652 NA 21 7 0 0 0.008871 0 0 FSTL5 56884 broad.mit.edu 37 4 162463753 162463753 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:162463753G>T uc003iqh.2 - 9 1544 c.1108C>A c.(1108-1110)CCT>ACT p.P370T FSTL5_uc003iqi.2_Missense_Mutation_p.P369T|FSTL5_uc010iqv.2_Missense_Mutation_p.P369T NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 370 Ig-like 2. 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) CCAAGCTGAGGCTTTGGTATG 0.458 NA 17 17 1.37285e-15 1.807e-15 0.004007 1 0 GLRA3 8001 broad.mit.edu 37 4 175565175 175565175 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:175565175T>A uc003ity.1 - 10 1660 c.1157A>T c.(1156-1158)TAT>TTT p.Y386F GLRA3_uc003itz.1_Missense_Mutation_p.Y371F NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 386 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TCCCATTCCATAGGCTGTGAA 0.453 NA 15 39 0 0 0.00245 0 0 SLC6A19 340024 broad.mit.edu 37 5 1221831 1221831 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:1221831T>C uc003jbw.3 + 12 1773 c.1717T>C c.(1717-1719)TCC>CCC p.S573P NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 573 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ATTTCCCAAATCCCAGAAGAT 0.577 NA 13 99 0 0 0.00245 0 0 IRX2 153572 broad.mit.edu 37 5 2749827 2749827 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:2749827G>A uc003jda.2 - 2 566 c.324C>T c.(322-324)TAC>TAT p.Y108Y C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Silent_p.Y108Y NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 108 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) GCTGGTACGGGTAGGCCGCGC 0.672 NA 16 72 0 0 0.004007 0 0 DNAH5 1767 broad.mit.edu 37 5 13714584 13714584 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:13714584C>A uc003jfd.2 - 75 13097 c.13055G>T c.(13054-13056)CGG>CTG p.R4352L DNAH5_uc003jfc.2_Missense_Mutation_p.R520L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4352 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CACCGCCTCCCGGGTCTCATC 0.562 NA Kartagener_syndrome 41 83 9.85521e-28 1.40528e-27 0.00623 1 0 TRIO 7204 broad.mit.edu 37 5 14280519 14280519 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:14280519C>G uc003jff.2 + 3 327 c.321C>G c.(319-321)CTC>CTG p.L107L TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.L58L NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 107 CRAL-TRIO. 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) TCAGGAGACTCATTTCCTATC 0.448 NA 5 57 0 0 0.000602 0 0 TRIO 7204 broad.mit.edu 37 5 14291337 14291337 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:14291337G>T uc003jff.2 + 5 1059 c.1053G>T c.(1051-1053)AAG>AAT p.K351N TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.K302N|TRIO_uc003jfh.1_5'Flank NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 351 Spectrin 1. 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) ATGCTGAGAAGGTAAAGACGG 0.557 NA 15 44 3.35478e-16 4.4283e-16 0.003163 1 0 CDH18 1016 broad.mit.edu 37 5 19543986 19543986 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:19543986G>T uc003jgc.2 - 8 1759 c.1382C>A c.(1381-1383)TCA>TAA p.S461* CDH18_uc003jgd.2_Nonsense_Mutation_p.S461*|CDH18_uc011cnm.1_Nonsense_Mutation_p.S461* NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 461 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) ACCAATTTCTGAAGCAGTGAC 0.373 NA 19 45 0.000175454 0.000189836 0.010504 1 0 PRDM9 56979 broad.mit.edu 37 5 23527452 23527452 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:23527452A>T uc003jgo.2 + 11 2437 c.2255A>T c.(2254-2256)GAG>GTG p.E752V NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 752 C2H2-type 10. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GTCTGCAGGGAGTGTGGGCGG 0.592 NA HNSCC(3;0.000094) 100 96 0 0 0.01441 0 0 NPR3 4883 broad.mit.edu 37 5 32774833 32774833 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:32774833G>C uc003jhv.2 + 4 1297 c.1079G>C c.(1078-1080)GGA>GCA p.G360A NPR3_uc010iuo.2_Missense_Mutation_p.G144A|NPR3_uc011cnz.1_Missense_Mutation_p.G144A|NPR3_uc003jhu.2_Missense_Mutation_p.G360A NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 360 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) TTTGTTGAAGGATTCCACGAT 0.438 NA 21 218 0 0 0.010504 0 0 SLC45A2 51151 broad.mit.edu 37 5 33944822 33944822 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:33944822C>G uc003jid.2 - 7 1616 c.1524G>C c.(1522-1524)GTG>GTC p.V508V NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 508 Helical; Name=12; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 ACGCTGTGATCACCACGACGA 0.547 Ovarian(31;380 859 8490 22203 49048) NA 11 51 0 0 0.010729 0 0 SPEF2 79925 broad.mit.edu 37 5 35712959 35712959 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:35712959A>C uc003jjo.2 + 20 2996 c.2885A>C c.(2884-2886)AAG>ACG p.K962T SPEF2_uc003jjp.1_Missense_Mutation_p.K448T NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 962 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAAAAGGGAAGAAAGGTGAG 0.353 NA 33 27 0 0 0.004878 0 0 ITGA2 3673 broad.mit.edu 37 5 52360854 52360854 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:52360854T>A uc003joy.2 + 14 1858 c.1715T>A c.(1714-1716)GTG>GAG p.V572E ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.V496E|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 572 Extracellular (Potential).|FG-GAP 6. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TTTAATGATGTGATTGTTGGT 0.428 NA 39 49 0 0 0.005524 0 0 RNF180 285671 broad.mit.edu 37 5 63509437 63509437 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:63509437G>T uc003jti.2 + 4 394 c.284G>T c.(283-285)GGG>GTG p.G95V RNF180_uc003jth.3_Missense_Mutation_p.G95V|RNF180_uc010iws.2_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN ring finger protein 180 isoform 1 95 Cytoplasmic (Potential). integral to membrane|nuclear envelope zinc ion binding 0 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) GCCCGTTTAGGGGGCTTTAAT 0.458 NA 29 169 2.61193e-14 3.38964e-14 0.009535 1 0 CWC27 10283 broad.mit.edu 37 5 64314067 64314067 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:64314067C>A uc003jtn.1 + 14 1557 c.1338C>A c.(1336-1338)ATC>ATA p.I446I CWC27_uc010iwt.1_3'UTR NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 446 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 CATTTGAAATCTATGATCCTC 0.358 NA 13 52 0.000219431 0.000236311 0.00245 1 0 RGNEF 64283 broad.mit.edu 37 5 73148476 73148476 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:73148476G>T uc011csq.1 + 13 1760 c.1749G>T c.(1747-1749)GAG>GAT p.E583D RGNEF_uc003kcx.2_Missense_Mutation_p.E583D|RGNEF_uc003kcy.1_3'UTR|RGNEF_uc010izf.2_Missense_Mutation_p.E583D|RGNEF_uc011csr.1_Missense_Mutation_p.E270D NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 583 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) GTCTTGTAGAGCAAAGAGCTT 0.373 NA 31 67 2.42023e-17 3.25043e-17 0.003271 1 0 F2RL2 2151 broad.mit.edu 37 5 75913421 75913421 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:75913421A>T uc003kem.2 - 2 1296 c.1111T>A c.(1111-1113)TAC>AAC p.Y371N IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.Y349N NM_004101 NP_004092 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 371 Cytoplasmic (Potential). platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity skin(2)|ovary(1) 3 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) TTTGTAAGGTAAGCAGTGGAG 0.368 NA 5 25 0 0 0.000602 0 0 PCSK1 5122 broad.mit.edu 37 5 95728928 95728928 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:95728928G>T uc003kls.1 - 14 2245 c.2039C>A c.(2038-2040)CCG>CAG p.P680Q PCSK1_uc010jbi.1_Missense_Mutation_p.P370Q NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 680 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTGCTTTGGCGGTGAGTTTTT 0.532 NA 38 67 8.73648e-17 1.15984e-16 0.004289 1 0 PGGT1B 5229 broad.mit.edu 37 5 114588852 114588852 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:114588852C>A uc003kqw.3 - 2 262 c.241G>T c.(241-243)GTC>TTC p.V81F PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Missense_Mutation_p.V81F NM_005023 NP_005014 P53609 PGTB1_HUMAN geranylgeranyltransferase type 1 beta 81 protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity 0 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) GTGGGAAGGACCTGCAGGGAA 0.299 NA 12 44 6.42651e-13 8.00283e-13 0.010729 1 0 LOC153328 153328 broad.mit.edu 37 5 135207197 135207197 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:135207197G>T uc003laz.1 + 5 641 c.469G>T c.(469-471)GCA>TCA p.A157S LOC153328_uc003lba.2_Intron Q6ZT89 S2548_HUMAN RecName: Full=Putative mitochondrial carrier protein FLJ44862; 157 Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAGCAGCCAGCATACCAGGG 0.612 NA 21 67 5.35356e-11 6.54324e-11 0.00278 1 0 SMAD5 4090 broad.mit.edu 37 5 135489586 135489586 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:135489586A>G uc003lbj.1 + 4 581 c.137A>G c.(136-138)AAG>AGG p.K46R SMAD5_uc003lbk.1_Missense_Mutation_p.K46R|SMAD5_uc003lbl.1_Missense_Mutation_p.K46R NM_001001419 NP_001001419 Q99717 SMAD5_HUMAN SMAD family member 5 46 Poly-Lys.|MH1. BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAAAAGAAAAAGGGTGCCATG 0.473 NA 3 48 0 0 0.004672 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201577 140201577 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140201577C>G uc003lhl.2 + 1 217 c.217C>G c.(217-219)CTT>GTT p.L73V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.L73V|PCDHA5_uc003lhj.1_Missense_Mutation_p.L73V NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 73 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding p.Q49fs*50(1) ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCGGGGACCTTCTGGAGGT 0.642 NA 70 100 0 0 0.01441 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475866 140475866 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140475866C>T uc003lil.2 + 1 1630 c.1492C>T c.(1492-1494)CCG>TCG p.P498S PCDHB2_uc003lim.1_Missense_Mutation_p.P159S NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 498 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCCAGGACCCGCACCTGCC 0.672 NA 32 182 0 0 0.00623 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552496 140552496 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140552496G>T uc003lit.2 + 1 254 c.80G>T c.(79-81)GGC>GTC p.G27V NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 27 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTTGGGCTGGCGCCGAACCG 0.502 NA 40 60 4.32679e-17 5.76074e-17 0.006999 1 0 PCDHB16 57717 broad.mit.edu 37 5 140563434 140563434 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140563434G>C uc003liv.2 + 1 2455 c.1300G>C c.(1300-1302)GAG>CAG p.E434Q PCDHB16_uc010jfw.1_Missense_Mutation_p.E106Q NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 434 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGAAAACGGAGCACAACAT 0.502 NA 28 133 0 0 0.005443 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719169 140719169 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140719169G>C uc003ljk.1 + 1 816 c.631G>C c.(631-633)GTT>CTT p.V211L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.V211L NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 211 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACCACCTCGTTCTCGTGGC 0.587 NA 35 50 0 0 0.012213 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140778972 140778972 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140778972G>T uc003lkf.1 + 1 1278 c.1278G>T c.(1276-1278)CCG>CCT p.P426P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.P426P NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 426 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCAAGCCGCCCCTCTCCT 0.512 NA 20 52 2.32416e-17 3.1305e-17 0.014323 1 0 ARHGEF37 389337 broad.mit.edu 37 5 149008500 149008500 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:149008500C>T uc003lra.1 + 12 1853 c.1789C>T c.(1789-1791)CTA>TTA p.L597L NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 597 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 CAGCCCAGCTCTAGTGCCCTC 0.592 NA 15 21 0 0 0.00245 0 0 CSF1R 1436 broad.mit.edu 37 5 149459794 149459794 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:149459794A>T uc003lrl.2 - 3 608 c.413T>A c.(412-414)GTC>GAC p.V138D CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.V138D|CSF1R_uc011dce.1_Missense_Mutation_p.V138D|CSF1R_uc011dcf.1_Missense_Mutation_p.V138D NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 138 Extracellular (Potential).|Ig-like C2-type 2. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CACCAGCGAGACGCCTGCTTC 0.642 NA 11 42 0 0 0.013537 0 0 GPX3 2878 broad.mit.edu 37 5 150405018 150405018 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:150405018G>A uc011dcm.1 + 2 422 c.205G>A c.(205-207)GTG>ATG p.V69M GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA NM_002084 NP_002075 P22352 GPX3_HUMAN glutathione peroxidase 3 precursor 69 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding 0 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CTTTGTCAACGTGGCCAGCTA 0.522 NA 4 71 0 0 0.009096 0 0 LARP1 23367 broad.mit.edu 37 5 154188019 154188019 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:154188019A>T uc003lvp.2 + 16 3128 c.2699A>T c.(2698-2700)GAG>GTG p.E900V LARP1_uc003lvo.2_Missense_Mutation_p.E823V NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 900 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTCCCATCAGAGCGGAAACGC 0.493 NA 23 34 0 0 0.014323 0 0 CCNJL 79616 broad.mit.edu 37 5 159680645 159680645 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:159680645C>T uc003lyb.1 - 7 1300 c.1048G>A c.(1048-1050)GTG>ATG p.V350M CCNJL_uc011dee.1_Missense_Mutation_p.V302M|CCNJL_uc003lyc.1_RNA NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 350 nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGTCCTGCACGGGGGTCTGG 0.677 NA 28 33 0 0 0.00632 0 0 GABRA6 2559 broad.mit.edu 37 5 161128640 161128640 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:161128640C>G uc003lyu.2 + 9 1561 c.1223C>G c.(1222-1224)TCG>TGG p.S408W GABRA6_uc003lyv.2_Missense_Mutation_p.S179W NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 408 Cytoplasmic (Probable). S -> P (in Ref. 1; AAB36480). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCACCACTCTCGCCAGCCTTT 0.468 NA TCGA Ovarian(5;0.080) 33 46 0 0 0.009535 0 0 EIF4E1B 253314 broad.mit.edu 37 5 176070182 176070182 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:176070182C>A uc010jkf.1 + 4 699 c.115C>A c.(115-117)CCC>ACC p.P39T NM_001099408 NP_001092878 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E 39 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCAAACTCTCCCAGGACTTT 0.448 NA 14 37 0.000219431 0.000236311 0.00245 1 0 EIF4E1B 253314 broad.mit.edu 37 5 176072502 176072502 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:176072502G>T uc010jkf.1 + 8 1183 c.599G>T c.(598-600)GGC>GTC p.G200V TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.2_5'Flank|TSPAN17_uc003meu.2_5'Flank|TSPAN17_uc003mev.2_5'Flank|TSPAN17_uc003mew.2_5'Flank NM_001099408 NP_001092878 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E 200 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AACCAGGCGGGCGTGCTGCAC 0.627 NA 12 16 2.27111e-07 2.61659e-07 0.013537 1 0 UNC5A 90249 broad.mit.edu 37 5 176295796 176295796 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:176295796C>A uc003mey.2 + 5 744 c.552C>A c.(550-552)CTC>CTA p.L184L UNC5A_uc003mex.1_Silent_p.L184L|UNC5A_uc010jkg.1_Silent_p.L144L NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 184 Ig-like C2-type.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGAGTGGCTCCGGAACGAGG 0.682 NA 11 36 9.31168e-06 1.03913e-05 0.001855 1 0 AGXT2L2 85007 broad.mit.edu 37 5 177642304 177642304 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:177642304A>G uc003miz.2 - 9 1307 c.1055T>C c.(1054-1056)ATC>ACC p.I352T AGXT2L2_uc003miy.2_Missense_Mutation_p.I77T|AGXT2L2_uc003mjc.2_Missense_Mutation_p.I311T|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_Missense_Mutation_p.I77T|AGXT2L2_uc003mjd.1_Missense_Mutation_p.I210T NM_153373 NP_699204 Q8IUZ5 AT2L2_HUMAN alanine-glyoxylate aminotransferase 2-like 2 352 mitochondrion pyridoxal phosphate binding|transaminase activity pancreas(1) 1 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GGGATGTTTGATTTTTTGCTG 0.532 NA 7 31 0 0 0.001984 0 0 NEDD9 4739 broad.mit.edu 37 6 11190595 11190595 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:11190595T>A uc003mzv.2 - 5 1674 c.1507A>T c.(1507-1509)AGC>TGC p.S503C NEDD9_uc010joz.2_Missense_Mutation_p.S503C|NEDD9_uc003mzw.3_Missense_Mutation_p.S357C NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 503 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) AAGTCATGGCTGGTTTGACTC 0.517 NA 16 59 0 0 0.003163 0 0 NUP153 9972 broad.mit.edu 37 6 17688669 17688669 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:17688669C>T uc003ncd.1 - 2 492 c.292G>A c.(292-294)GAT>AAT p.D98N NUP153_uc011dje.1_Missense_Mutation_p.D98N|NUP153_uc010jpl.1_Missense_Mutation_p.D98N NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 98 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) ATTCTCCCATCAGTAATATTA 0.413 NA 25 41 0 0 0.003954 0 0 FAM65B 9750 broad.mit.edu 37 6 24850828 24850828 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:24850828G>C uc003neo.1 - 10 971 c.795C>G c.(793-795)ATC>ATG p.I265M FAM65B_uc011djs.1_Missense_Mutation_p.I294M|FAM65B_uc011dju.1_Missense_Mutation_p.I299M|FAM65B_uc003nep.2_Missense_Mutation_p.I265M|FAM65B_uc011djt.1_Missense_Mutation_p.I265M NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 265 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 ACTGTACCTTGATGGAGATGA 0.512 NA 15 40 0 0 0.00245 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123920 26123920 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:26123920A>C uc003ngk.3 - 1 235 c.213T>G c.(211-213)TTT>TTG p.F71L HIST1H2BC_uc003ngl.2_Missense_Mutation_p.F71L|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank NM_003526 NP_003517 P62807 H2B1C_HUMAN histone cluster 1, H2bc 71 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 CGATGCGCTCAAATATGTCGT 0.572 NA 70 100 0 0 0.01441 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225469 26225469 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:26225469C>A uc003nhb.2 + 2 447 c.87C>A c.(85-87)AGC>AGA p.S29R HIST1H3E_uc003nhc.3_Missense_Mutation_p.S29R NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 29 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) CTCGCAAGAGCGCTCCGGCCA 0.607 NA 17 71 3.45872e-05 3.83196e-05 0.004007 1 0 OR2J2 26707 broad.mit.edu 37 6 29142013 29142013 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:29142013A>G uc011dlm.1 + 1 703 c.601A>G c.(601-603)ATG>GTG p.M201V NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCTGACCCTCATGGTCATGAG 0.483 NA 13 119 0 0 0.010504 0 0 ZFP57 346171 broad.mit.edu 37 6 29640726 29640726 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:29640726G>A uc011dlw.1 - 4 1313 c.1162C>T c.(1162-1164)CAT>TAT p.H388Y ZFP57_uc003nnl.3_Missense_Mutation_p.H368Y NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 304 C2H2-type 5. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 AAAGAACAATGGGGGCAACAG 0.517 NA 51 265 0 0 0.01441 0 0 PHF1 5252 broad.mit.edu 37 6 33383646 33383646 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:33383646C>T uc003oeh.2 + 15 1711 c.1475C>T c.(1474-1476)TCG>TTG p.S492L PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Nonsense_Mutation_p.R457*|PHF1_uc010jux.2_Missense_Mutation_p.S292L NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 492 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) GCCCCCCACTCGATGACTGCC 0.537 NA 66 87 0 0 0.01441 0 0 ABCC10 89845 broad.mit.edu 37 6 43400666 43400666 + Silent SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:43400666G>C uc003ouy.1 + 3 1163 c.948G>C c.(946-948)GGG>GGC p.G316G ABCC10_uc003ouz.1_Silent_p.G273G|ABCC10_uc010jyo.1_5'Flank NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 316 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGGAAGAGGGGCAGGAGCCAC 0.592 NA 21 43 0 0 0.008871 0 0 GCLC 2729 broad.mit.edu 37 6 53387311 53387311 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:53387311C>A uc003pbw.1 - 2 553 c.165G>T c.(163-165)TTG>TTT p.L55F GCLC_uc003pbx.2_Missense_Mutation_p.L55F NM_001498 NP_001489 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 55 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CAAAAGATACCAACATGTATT 0.403 NA 3 35 0.004672 0.0049056 0.004672 1 0 FAM83B 222584 broad.mit.edu 37 6 54805944 54805944 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:54805944C>G uc003pck.2 + 5 2291 c.2175C>G c.(2173-2175)ACC>ACG p.T725T NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 725 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) AGGAAGTTACCAAGAGAAACT 0.393 NA 22 42 0 0 0.00278 0 0 BAI3 577 broad.mit.edu 37 6 70071320 70071320 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:70071320G>C uc003pev.3 + 29 4603 c.4155G>C c.(4153-4155)AAG>AAC p.K1385N BAI3_uc010kak.2_Missense_Mutation_p.K1385N|BAI3_uc011dxx.1_Missense_Mutation_p.K591N NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1385 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) CAGCTGTGAAGAATTTCATGG 0.438 NA 10 74 0 0 0.006214 0 0 BCKDHB 594 broad.mit.edu 37 6 80816606 80816606 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:80816606G>C uc003pjd.2 + 1 263 c.196G>C c.(196-198)GGG>CGG p.G66R BCKDHB_uc003pje.2_Missense_Mutation_p.G66R NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta 66 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) CCGGGAGTACGGTGAGCCCTG 0.701 NA 3 5 0 0 0.004672 0 0 HACE1 57531 broad.mit.edu 37 6 105233031 105233031 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:105233031G>A uc003pqu.1 - 12 1515 c.1238C>T c.(1237-1239)CCT>CTT p.P413L HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.P413L|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.P66L NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 413 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) ATAGCTCCCAGGTCCTGGAGG 0.433 NA 15 31 0 0 0.003163 0 0 ATG5 9474 broad.mit.edu 37 6 106727555 106727555 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:106727555G>A uc003prf.2 - 5 812 c.459C>T c.(457-459)CTC>CTT p.L153L ATG5_uc010kdb.2_Silent_p.L153L|ATG5_uc003prg.2_Silent_p.L75L|ATG5_uc010kdc.2_Intron NM_004849 NP_004840 Q9H1Y0 ATG5_HUMAN APG5 autophagy 5-like 153 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding large_intestine(1) 1 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) ATCCCATCCAGAGTTGCTTGT 0.303 NA 7 29 0 0 0.00308 0 0 TAAR6 319100 broad.mit.edu 37 6 132891745 132891745 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:132891745G>T uc011eck.1 + 1 285 c.285G>T c.(283-285)GAG>GAT p.E95D NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 95 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) GGACGGTGGAGAGCTGCTGGT 0.502 NA 32 93 1.74807e-11 2.14789e-11 0.010818 1 0 SYNE1 23345 broad.mit.edu 37 6 152738009 152738009 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:152738009C>A uc010kiw.2 - 41 6165 c.5563G>T c.(5563-5565)GAG>TAG p.E1855* SYNE1_uc003qot.3_Nonsense_Mutation_p.E1862*|SYNE1_uc003qou.3_Nonsense_Mutation_p.E1855*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.E1838* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1855 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) TGGCTGGCCTCCTCAAACAGC 0.602 NA HNSCC(10;0.0054) 9 60 1.76689e-08 2.06659e-08 0.006214 1 0 IGF2R 3482 broad.mit.edu 37 6 160430048 160430048 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:160430048C>G uc003qta.2 + 3 444 c.296C>G c.(295-297)TCT>TGT p.S99C NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 99 1.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ATAGGTGACTCTGTTTTGAGA 0.403 NA 20 53 0 0 0.010504 0 0 PLG 5340 broad.mit.edu 37 6 161139345 161139345 + Silent SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:161139345T>A uc003qtm.3 + 8 870 c.807T>A c.(805-807)TCT>TCA p.S269S NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 269 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CACCATCTTCTGGTCCCACCT 0.378 NA 27 52 0 0 0.005443 0 0 AGPAT4 56895 broad.mit.edu 37 6 161567608 161567608 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:161567608G>C uc003qtr.1 - 7 1018 c.791C>G c.(790-792)CCT>CGT p.P264R AGPAT4_uc003qts.1_Missense_Mutation_p.P124R|AGPAT4_uc011egb.1_Missense_Mutation_p.P102R NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 264 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding 0 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) ATCGTCTTCAGGGATGTCTTC 0.587 NA 9 57 0 0 0.006214 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6094328 6094328 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:6094328A>T uc003spp.2 - 2 272 c.126T>A c.(124-126)GAT>GAA p.D42E EIF2AK1_uc003spq.2_Missense_Mutation_p.D42E|EIF2AK1_uc011jwm.1_5'UTR NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 42 negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CTGCTGGAACATCAGATTCTA 0.338 NA 5 61 0 0 0.001168 0 0 THSD7A 221981 broad.mit.edu 37 7 11676584 11676584 + Silent SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:11676584T>C uc003ssf.3 - 2 447 c.195A>G c.(193-195)CCA>CCG p.P65P NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 65 TSP type-1 1.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATCGGCCCCATGGACCTACAA 0.443 NA HNSCC(18;0.044) 16 59 0 0 0.003163 0 0 HOXA1 3198 broad.mit.edu 37 7 27134078 27134078 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:27134078G>C uc003sye.2 - 2 1083 c.989C>G c.(988-990)ACT>AGT p.T330S HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 330 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 GGTAGTCAGAGTGTCTGAGGT 0.597 NA 7 60 0 0 0.00308 0 0 AEBP1 165 broad.mit.edu 37 7 44144413 44144413 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:44144413G>A uc003tkb.2 + 1 454 c.149G>A c.(148-150)CGG>CAG p.R50Q NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 50 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCTGAGCCCCGGGAGGACGAC 0.726 NA 3 14 0 0 0.004672 0 0 PKD1L1 168507 broad.mit.edu 37 7 47842862 47842862 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:47842862C>A uc003tny.1 - 53 7908 c.7908G>T c.(7906-7908)ATG>ATT p.M2636I C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2636 Helical; (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AGCAGGATGCCATTGTGTTTT 0.478 NA 15 43 0.00316338 0.00333672 0.003163 1 0 EGFR 1956 broad.mit.edu 37 7 55224477 55224477 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:55224477C>A uc003tqk.2 + 10 1405 c.1159C>A c.(1159-1161)CTG>ATG p.L387M EGFR_uc003tqh.2_Missense_Mutation_p.L387M|EGFR_uc003tqi.2_Missense_Mutation_p.L387M|EGFR_uc003tqj.2_Missense_Mutation_p.L387M|EGFR_uc010kzg.1_Missense_Mutation_p.L342M|EGFR_uc011kco.1_Missense_Mutation_p.L334M|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 387 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TACTCCTCCTCTGGATCCACA 0.363 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 37 30 1.04594e-18 1.42966e-18 0.00623 1 0 EGFR 1956 broad.mit.edu 37 7 55259524 55259524 + Missense_Mutation SNP T T A rs121913444 TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:55259524T>A uc003tqk.2 + 21 2828 c.2582T>A c.(2581-2583)CTG>CAG p.L861Q EGFR_uc010kzg.1_Missense_Mutation_p.L816Q|EGFR_uc011kco.1_Missense_Mutation_p.L808Q|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 861 Cytoplasmic (Potential).|Protein kinase. L -> Q (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L861Q(96)|p.L861R(10)|p.A859_L883>V(2)|p.L861F(1)|p.L861V(1)|p.L861P(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTGGCCAAACTGCTGGGTGCG 0.557 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 96 60 0 0 0.01441 0 0 ZNF716 441234 broad.mit.edu 37 7 57528740 57528740 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:57528740C>T uc011kdi.1 + 4 685 c.573C>T c.(571-573)GGC>GGT p.G191G NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 AAAACGATGGCAAATCATTTT 0.338 NA 10 10 0 0 0.006214 0 0 MUC17 140453 broad.mit.edu 37 7 100684210 100684210 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:100684210C>A uc003uxp.1 + 3 9566 c.9513C>A c.(9511-9513)GTC>GTA p.V3171V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3171 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|51. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ATATGCCTGTCAGCACCATGC 0.473 NA 8 402 0.000157383 0.000170683 0.00308 1 0 MUC17 140453 broad.mit.edu 37 7 100686420 100686420 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:100686420C>G uc003uxp.1 + 3 11776 c.11723C>G c.(11722-11724)CCT>CGT p.P3908R MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3908 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACTTTTACCCCTTCTACTGAC 0.478 NA 16 116 0 0 0.006122 0 0 MUC17 140453 broad.mit.edu 37 7 100686595 100686595 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:100686595A>G uc003uxp.1 + 3 11951 c.11898A>G c.(11896-11898)ATA>ATG p.I3966M MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3966 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCCCTGTGATAACTTCCACTG 0.453 NA 5 128 0 0 0.001168 0 0 TMEM168 64418 broad.mit.edu 37 7 112424094 112424094 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:112424094T>C uc003vgn.2 - 2 1179 c.787A>G c.(787-789)AGA>GGA p.R263G TMEM168_uc010lju.2_Missense_Mutation_p.R263G|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 263 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 GAAAGTCTTCTGCAAATTCTT 0.353 NA 29 128 0 0 0.00632 0 0 FLNC 2318 broad.mit.edu 37 7 128494176 128494176 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:128494176C>G uc003vnz.3 + 40 6842 c.6633C>G c.(6631-6633)ACC>ACG p.T2211T FLNC_uc003voa.3_Silent_p.T2178T NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2211 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 AGGAGTCCACCCAGGTCGGCG 0.692 NA 14 16 0 0 0.00245 0 0 FLNC 2318 broad.mit.edu 37 7 128494178 128494178 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:128494178A>T uc003vnz.3 + 40 6844 c.6635A>T c.(6634-6636)CAG>CTG p.Q2212L FLNC_uc003voa.3_Missense_Mutation_p.Q2179L NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2212 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GAGTCCACCCAGGTCGGCGGG 0.692 NA 13 16 0 0 0.001855 0 0 NUP205 23165 broad.mit.edu 37 7 135258468 135258468 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:135258468C>G uc003vsw.2 + 3 269 c.238C>G c.(238-240)CAA>GAA p.Q80E NUP205_uc011kqa.1_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 80 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CATTCAGGGTCAACAGGGAAC 0.393 NA 9 26 0 0 0.004482 0 0 CASP2 835 broad.mit.edu 37 7 143000948 143000948 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:143000948G>A uc003wco.2 + 9 1186 c.1039G>A c.(1039-1041)GAT>AAT p.D347N CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Missense_Mutation_p.D231N|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Missense_Mutation_p.D97N NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 347 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) CGAGGAGAGTGATGCCGGTAA 0.502 NA 6 14 0 0 0.001168 0 0 PDIA4 9601 broad.mit.edu 37 7 148703045 148703045 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:148703045C>A uc003wff.2 - 8 1514 c.1232G>T c.(1231-1233)AGG>ATG p.R411M NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 411 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CAGGGGGCGCCTGGTGTAGCG 0.632 NA OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 38 3.83957e-06 4.33712e-06 0.00278 1 0 ZNF212 7988 broad.mit.edu 37 7 148951158 148951158 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:148951158C>G uc003wfp.2 + 5 1236 c.1140C>G c.(1138-1140)TGC>TGG p.C380W NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN zinc finger protein 212 380 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GCTTCAGCTGCAAGGTGAGCC 0.612 NA 9 9 0 0 0.004482 0 0 AGAP3 116988 broad.mit.edu 37 7 150784108 150784108 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:150784108G>C uc003wjg.1 + 1 283 c.280G>C c.(280-282)GAG>CAG p.E94Q AGAP3_uc003wje.1_Intron|AGAP3_uc003wjf.1_Missense_Mutation_p.E94Q|AGAP3_uc010lpy.1_Missense_Mutation_p.E94Q NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 58 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 CGAGCGCATCGAGGATTTGGC 0.662 NA 6 16 0 0 0.001168 0 0 GALNTL5 168391 broad.mit.edu 37 7 151680215 151680215 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:151680215G>A uc003wkp.2 + 4 736 c.513G>A c.(511-513)TTG>TTA p.L171L GALNTL5_uc003wkq.2_Intron|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Silent_p.L60L NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 171 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) AAATTATTTTGGTAGATGACA 0.279 NA 28 54 0 0 0.00632 0 0 PTPRN2 5799 broad.mit.edu 37 7 157475553 157475553 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:157475553G>T uc003wno.2 - 13 1986 c.1865C>A c.(1864-1866)TCC>TAC p.S622Y PTPRN2_uc003wnp.2_Missense_Mutation_p.S605Y|PTPRN2_uc003wnq.2_Missense_Mutation_p.S593Y|PTPRN2_uc003wnr.2_Missense_Mutation_p.S584Y|PTPRN2_uc011kwa.1_Missense_Mutation_p.S645Y NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 622 Helical; (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GCAGGCGAGGGAGACCAGGGT 0.597 NA 32 39 6.04164e-23 8.5359e-23 0.010818 1 0 DLGAP2 9228 broad.mit.edu 37 8 1513916 1513916 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:1513916T>C uc003wpl.2 + 3 1155 c.1058T>C c.(1057-1059)ATG>ACG p.M353T DLGAP2_uc003wpm.2_Missense_Mutation_p.M353T NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 432 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGCAGGAGAATGAGAAGTGGG 0.557 NA 4 35 0 0 0.000602 0 0 DLGAP2 9228 broad.mit.edu 37 8 1645345 1645345 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:1645345G>A uc003wpl.2 + 11 2686 c.2589G>A c.(2587-2589)CAG>CAA p.Q863Q DLGAP2_uc003wpm.2_Silent_p.Q849Q NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 942 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CGACGTCGCAGGACCTGGCCG 0.647 NA 10 47 0 0 0.006214 0 0 BLK 640 broad.mit.edu 37 8 11412886 11412886 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:11412886G>C uc003wty.2 + 8 1246 c.665G>C c.(664-666)CGC>CCC p.R222P BLK_uc003wtz.2_Missense_Mutation_p.R151P NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 222 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CCCTGTGTGCGCCCGGCCCCG 0.617 NA 13 63 0 0 0.001855 0 0 GATA4 2626 broad.mit.edu 37 8 11606499 11606499 + Nonsense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:11606499C>T uc003wuc.2 + 3 1242 c.688C>T c.(688-690)CGA>TGA p.R230* GATA4_uc003wub.1_Nonsense_Mutation_p.R24*|GATA4_uc011kxc.1_Nonsense_Mutation_p.R231* NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 230 GATA-type 1. atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) GCTCTGGAGGCGAGATGGGAC 0.567 NA 18 98 0 0 0.006122 0 0 UNC5D 137970 broad.mit.edu 37 8 35624523 35624523 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:35624523T>A uc003xjr.1 + 15 2745 c.2417T>A c.(2416-2418)ATC>AAC p.I806N UNC5D_uc003xjs.1_Missense_Mutation_p.I801N|UNC5D_uc003xju.1_Missense_Mutation_p.I382N NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 806 Cytoplasmic (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) TCCTGCAAAATCTGCATTCGG 0.557 NA 5 59 0 0 0.000602 0 0 FGFR1 2260 broad.mit.edu 37 8 38314957 38314957 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:38314957C>A uc003xlp.2 - 2 950 c.8G>T c.(7-9)AGC>ATC p.S3I FGFR1_uc011lbo.1_Missense_Mutation_p.S3I|FGFR1_uc011lbp.1_Missense_Mutation_p.S3I|FGFR1_uc011lbq.1_Missense_Mutation_p.S3I|FGFR1_uc010lwk.2_5'UTR|FGFR1_uc011lbs.1_5'UTR|FGFR1_uc011lbt.1_Missense_Mutation_p.S3I|FGFR1_uc011lbu.1_Missense_Mutation_p.S36I|FGFR1_uc011lbv.1_Missense_Mutation_p.S3I|FGFR1_uc011lbw.1_Missense_Mutation_p.S3I|FGFR1_uc011lbx.1_Missense_Mutation_p.S3I|FGFR1_uc003xlv.2_Missense_Mutation_p.S3I|FGFR1_uc003xlu.2_Missense_Mutation_p.S3I|FGFR1_uc003xlw.1_RNA NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 3 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GCACTTCCAGCTCCACATCCC 0.572 Melanoma(146;1153 1840 21453 21841 43625) 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 24 13 1.64293e-13 2.06822e-13 0.00333 1 0 PXDNL 137902 broad.mit.edu 37 8 52336147 52336147 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:52336147G>C uc003xqu.3 - 14 1884 c.1783C>G c.(1783-1785)CTT>GTT p.L595V NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 595 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GTGACTGTAAGAAACATGTTG 0.453 NA 10 15 0 0 0.008291 0 0 PRDM14 63978 broad.mit.edu 37 8 70980575 70980575 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:70980575C>A uc003xym.2 - 4 1004 c.802G>T c.(802-804)GTG>TTG p.V268L NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 268 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CTGCAGAACACACCAAAATGT 0.478 NSCLC(129;99 1813 5906 40656 46114) NA 14 16 0.000151284 0.000165233 0.001855 1 0 PI15 51050 broad.mit.edu 37 8 75756296 75756296 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:75756296G>A uc003yal.2 + 3 533 c.354G>A c.(352-354)CTG>CTA p.L118L uc003yak.1_Intron|PI15_uc003yam.2_Silent_p.L118L NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 118 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CTTACTTACTGAGATTTTTGG 0.423 NA 7 40 0 0 0.00308 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690655 77690655 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:77690655A>T uc003yav.2 + 4 3614 c.3227A>T c.(3226-3228)GAT>GTT p.D1076V ZFHX4_uc003yau.1_Missense_Mutation_p.D1102V|ZFHX4_uc003yaw.1_Missense_Mutation_p.D1076V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1076 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTTGTTAAAGATTGCCCACCA 0.463 NA HNSCC(33;0.089) 3 49 0 0 0.009096 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814840 106814840 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:106814840A>T uc003ymd.2 + 8 2553 c.2530A>T c.(2530-2532)ACC>TCC p.T844S ZFPM2_uc011lhs.1_Missense_Mutation_p.T575S NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 844 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGAGCGGACGACCACGTCTCC 0.458 NA 5 15 0 0 0.000602 0 0 GPR20 2843 broad.mit.edu 37 8 142367614 142367614 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:142367614G>A uc003ywf.2 - 2 499 c.410C>T c.(409-411)TCC>TTC p.S137F NM_005293 NP_005284 Q99678 GPR20_HUMAN G protein-coupled receptor 20 137 Helical; Name=3; (Potential). integral to plasma membrane G-protein coupled receptor activity upper_aerodigestive_tract(1) 1 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) GAAGAGGATGGAGCAGTGCAT 0.682 NA 17 47 0 0 0.004007 0 0 LYPD2 137797 broad.mit.edu 37 8 143832527 143832527 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:143832527G>T uc003ywz.2 - 2 203 c.120C>A c.(118-120)ATC>ATA p.I40I NM_205545 NP_991108 Q6UXB3 LYPD2_HUMAN LY6/PLAUR domain containing 2 precursor 40 UPAR/Ly6. anchored to membrane|plasma membrane 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGCAGGTGGCGATGGTGACAC 0.657 NA 23 150 3.5997e-14 4.65843e-14 0.014323 1 0 RANBP6 26953 broad.mit.edu 37 9 6013819 6013819 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:6013819A>C uc003zjr.2 - 1 1800 c.1789T>G c.(1789-1791)TCA>GCA p.S597A RANBP6_uc011lmf.1_Missense_Mutation_p.S245A|RANBP6_uc003zjs.2_Missense_Mutation_p.S185A NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 597 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TTTAAGTCTGATTGTGTCTTC 0.368 NA 8 59 0 0 0.004482 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627428 43627428 + Missense_Mutation SNP G G A rs11261835 by1000genomes TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:43627428G>A uc011lrb.1 - 4 1288 c.1259C>T c.(1258-1260)CCC>CTC p.P420L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 420 integral to membrane 0 GTGCAGAGAGGGGAGGCCCCA 0.498 NA 4 35 0 0 0.009096 0 0 MAMDC2 256691 broad.mit.edu 37 9 72783656 72783656 + Silent SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:72783656T>C uc004ahm.2 + 10 2060 c.1443T>C c.(1441-1443)TGT>TGC p.C481C MAMDC2_uc004ahn.2_RNA|uc004aho.1_Intron NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN MAM domain containing 2 precursor 481 MAM 3. endoplasmic reticulum|membrane central_nervous_system(1)|pancreas(1) 2 TCTGGGACTGTGGGCTTGTAG 0.398 NA 6 12 0 0 0.001168 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322624 79322624 + Silent SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:79322624A>T uc010mpk.2 - 8 4690 c.4566T>A c.(4564-4566)CTT>CTA p.L1522L NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1522 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CGGCTCCTGGAAGGCTATTTT 0.418 NA 16 14 0 0 0.003163 0 0 SUSD3 203328 broad.mit.edu 37 9 95846817 95846817 + Splice_Site SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:95846817A>T uc004atb.2 + 5 594 c.558_splice c.e5-2 p.T186_splice SUSD3_uc004atc.2_Splice_Site_p.T173_splice NM_145006 NP_659443 Q96L08 SUSD3_HUMAN sushi domain containing 3 integral to membrane breast(2)|skin(2)|ovary(1)|lung(1) 6 CTCTCTCCACAGAGACCATGG 0.602 NA 18 27 0 0 0.008871 0 0 GABBR2 9568 broad.mit.edu 37 9 101148033 101148033 + Silent SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:101148033T>C uc004ays.2 - 11 1707 c.1551A>G c.(1549-1551)CCA>CCG p.P517P NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 517 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TGTTCATGTATGGACTCGACA 0.383 NA 8 19 0 0 0.00308 0 0 OR13C8 138802 broad.mit.edu 37 9 107332000 107332000 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:107332000C>A uc011lvo.1 + 1 552 c.552C>A c.(550-552)ATC>ATA p.I184I NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTCTGGCTATCTTGAAACTGG 0.383 NA 16 45 8.60227e-14 1.09786e-13 0.004007 1 0 PTGS1 5742 broad.mit.edu 37 9 125154703 125154703 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:125154703G>T uc004bmg.1 + 11 1815 c.1680G>T c.(1678-1680)ACG>ACT p.T560T PTGS1_uc011lys.1_Silent_p.T498T|PTGS1_uc010mwb.1_Silent_p.T414T|PTGS1_uc004bmf.1_Silent_p.T523T|PTGS1_uc004bmh.1_Silent_p.T451T|PTGS1_uc011lyt.1_Silent_p.T451T NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 560 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TTGTCAAGACGGCCACACTGA 0.567 NA 11 56 3.86212e-05 4.23824e-05 0.008291 1 0 SARDH 1757 broad.mit.edu 37 9 136582475 136582475 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:136582475C>T uc004cep.3 - 8 1257 c.1123G>A c.(1123-1125)GGA>AGA p.G375R SARDH_uc004ceo.2_Missense_Mutation_p.G375R|SARDH_uc011mdn.1_Missense_Mutation_p.G375R|SARDH_uc011mdo.1_Missense_Mutation_p.G207R NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 375 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GACTTGATTCCTGTCTTCTCC 0.587 NA 15 41 0 0 0.00499 0 0 SOHLH1 402381 broad.mit.edu 37 9 138588558 138588558 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:138588558G>T uc004cgl.2 - 5 622 c.561C>A c.(559-561)TCC>TCA p.S187S SOHLH1_uc010nbe.2_Silent_p.S187S NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 187 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CCCACTGCCTGGAGGACGCAA 0.652 NA 13 23 1.5842e-08 1.87667e-08 0.001855 1 0 VCX 26609 broad.mit.edu 37 X 7811644 7811644 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:7811644G>A uc004crz.2 + 3 427 c.208G>A c.(208-210)GCG>ACG p.A70T NM_013452 NP_038480 Q9H320 VCX1_HUMAN variable charge, X chromosome 70 A -> G (in Ref. 2; AAF28174). chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding 0 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) GGCGGAGAGCGCGCCAGCGGC 0.692 NA 3 9 0 0 0.009096 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337384 13337384 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:13337384G>T uc010ned.2 - 1 1135 c.670C>A c.(670-672)CAA>AAA p.Q224K NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 224 UIM 1. protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 TCCTCATCTTGGTCTGATGTT 0.383 NA 68 228 4.98926e-31 7.20324e-31 0.01441 1 0 MAGEB6 158809 broad.mit.edu 37 X 26212723 26212723 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:26212723G>A uc004dbr.2 + 2 909 c.760G>A c.(760-762)GAA>AAA p.E254K MAGEB6_uc010ngc.1_Missense_Mutation_p.E34K NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 254 MAGE. ovary(3) 3 TGAATTGAAAGAAATGGATTC 0.527 NA 20 53 0 0 0.008871 0 0 MAGEB10 139422 broad.mit.edu 37 X 27840147 27840147 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:27840147G>T uc004dbw.2 + 3 951 c.724G>T c.(724-726)GGG>TGG p.G242W NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 242 MAGE. lung(1)|breast(1)|central_nervous_system(1) 3 CTTCATGTTTGGGGAGCCCAG 0.453 NA 11 29 3.86212e-05 4.23824e-05 0.008291 1 0 DMD 1756 broad.mit.edu 37 X 31792208 31792208 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:31792208C>G uc004dda.1 - 51 7655 c.7411G>C c.(7411-7413)GCT>CCT p.A2471P DMD_uc004dcr.1_Missense_Mutation_p.A11P|DMD_uc004dcs.1_Missense_Mutation_p.A11P|DMD_uc004dct.1_Missense_Mutation_p.A11P|DMD_uc004dcu.1_Missense_Mutation_p.A11P|DMD_uc004dcv.1_Missense_Mutation_p.A11P|DMD_uc004dcw.2_Missense_Mutation_p.A1127P|DMD_uc004dcx.2_Missense_Mutation_p.A1130P|DMD_uc004dcz.2_Missense_Mutation_p.A2348P|DMD_uc004dcy.1_Missense_Mutation_p.A2467P|DMD_uc004ddb.1_Missense_Mutation_p.A2463P|DMD_uc004ddd.1_Missense_Mutation_p.A11P NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2471 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTGCCAGAGCAGGTACCTCC 0.468 NA 10 45 0 0 0.006214 0 0 FAM47B 170062 broad.mit.edu 37 X 34962518 34962518 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:34962518C>A uc004ddi.1 + 1 1588 c.1570C>A c.(1570-1572)CGG>AGG p.R524R NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 524 ovary(3)|breast(1) 4 CGAATTCTTACGGATAAAATA 0.493 NA 40 34 5.71845e-15 7.4842e-15 0.005524 1 0 FAM47C 442444 broad.mit.edu 37 X 37027388 37027388 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:37027388G>A uc004ddl.1 + 1 919 c.905G>A c.(904-906)GGA>GAA p.G302E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 302 ovary(3) 3 CCTGAGACTGGAGTGCCTGAT 0.602 NA 15 81 0 0 0.003163 0 0 CXorf36 79742 broad.mit.edu 37 X 45013318 45013318 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:45013318G>T uc004dgg.2 - 4 873 c.798C>A c.(796-798)GAC>GAA p.D266E NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN hypothetical protein LOC79742 isoform 1 266 extracellular region lung(1) 1 GGTAGGCAAGGTCGGCTGCCT 0.557 NA 9 73 7.48243e-07 8.55664e-07 0.006214 1 0 SLC9A7 84679 broad.mit.edu 37 X 46618393 46618393 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:46618393C>T uc004dgu.1 - 1 80 c.72G>A c.(70-72)CTG>CTA p.L24L SLC9A7_uc004dgv.1_Silent_p.L24L NM_032591 NP_115980 Q96T83 SL9A7_HUMAN solute carrier family 9, member 7 24 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity ovary(2) 2 gcagcggcagcagcagcagcc 0.647 Pancreas(118;454 1696 1930 13865 39976) NA 6 6 0 0 0.001168 0 0 TIMP1 7076 broad.mit.edu 37 X 47444660 47444660 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:47444660C>A uc004dif.2 + 4 450 c.258C>A c.(256-258)ACC>ACA p.T86T SYN1_uc004did.2_Intron|SYN1_uc004die.2_Intron|TIMP1_uc011mlr.1_Missense_Mutation_p.P10H|TIMP1_uc010nht.1_Missense_Mutation_p.P10H NM_003254 NP_003245 P01033 TIMP1_HUMAN tissue inhibitor of metalloproteinase 1 86 NTR. erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation platelet alpha granule lumen metal ion binding|metalloendopeptidase inhibitor activity|protein binding 0 TCGTCTACACCCCCGCCATGG 0.562 NA 5 18 0.00116845 0.0012467 0.001168 1 0 ZNF182 7569 broad.mit.edu 37 X 47836869 47836869 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:47836869T>C uc004dir.2 - 7 963 c.617A>G c.(616-618)TAT>TGT p.Y206C ZNF182_uc004dis.2_Missense_Mutation_p.Y187C|ZNF182_uc004dit.2_Missense_Mutation_p.Y206C|ZNF182_uc011mlu.1_Missense_Mutation_p.Y186C NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 206 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 TTTATAGCCATAGGGCTTCAT 0.358 NA 22 35 0 0 0.014323 0 0 CACNA1F 778 broad.mit.edu 37 X 49068380 49068380 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:49068380G>T uc004dnb.2 - 35 4173 c.4111C>A c.(4111-4113)CAG>AAG p.Q1371K CACNA1F_uc010nip.2_Missense_Mutation_p.Q1360K NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1371 Extracellular (Potential).|IV. axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) AGCACAGCCTGTGGAAAGGTC 0.562 NA 13 42 2.27111e-07 2.61659e-07 0.013537 1 0 IQSEC2 23096 broad.mit.edu 37 X 53267475 53267475 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:53267475C>T uc004dsd.2 - 12 3330 c.3129G>A c.(3127-3129)GGG>GGA p.G1043G IQSEC2_uc004dsc.2_Silent_p.G838G NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 1033 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 GCAACTTGATCCCAAACTGGT 0.483 NA 10 23 0 0 0.010729 0 0 HUWE1 10075 broad.mit.edu 37 X 53571710 53571710 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:53571710C>A uc004dsp.2 - 72 11464 c.11062G>T c.(11062-11064)GAG>TAG p.E3688* HUWE1_uc004dsn.2_Nonsense_Mutation_p.E2496*|HUWE1_uc004dsq.1_Nonsense_Mutation_p.E3* NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3688 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ACCACATTCTCAGCCATGTCA 0.488 NA 19 45 1.33834e-09 1.60184e-09 0.007413 1 0 ITIH5L 347365 broad.mit.edu 37 X 54800519 54800519 + Nonsense_Mutation SNP C C A rs145132163 by1000genomes TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:54800519C>A uc004dtj.2 - 6 928 c.898G>T c.(898-900)GAA>TAA p.E300* NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 300 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GTTACCTGTTCCATCTTGGTA 0.463 NA 4 15 0.00909568 0.00942198 0.009096 1 0 SPIN4 139886 broad.mit.edu 37 X 62570542 62570542 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:62570542T>A uc004dvf.2 - 1 677 c.157A>T c.(157-159)AAC>TAC p.N53Y NM_001012968 NP_001012986 Q56A73 SPIN4_HUMAN spindlin family, member 4 53 gamete generation ovary(1)|lung(1) 2 ACTGGCTCGTTGCCTTCCTTC 0.527 NA 8 22 0 0 0.004482 0 0 MED12 9968 broad.mit.edu 37 X 70348450 70348450 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:70348450C>A uc004dyy.2 + 24 3556 c.3357C>A c.(3355-3357)GTC>GTA p.V1119V MED12_uc011mpq.1_Silent_p.V1119V|MED12_uc004dyz.2_Silent_p.V1119V|MED12_uc004dza.2_Silent_p.V966V|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1119 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TCCTCCAGGTCAGTGACCTAT 0.532 NA OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 37 2.5808e-16 3.41641e-16 0.006122 1 0 SYTL4 94121 broad.mit.edu 37 X 99956569 99956570 + Missense_Mutation DNP CC CC AA TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:99956569_99956570CC>AA uc004egd.3 - 5 566_567 c.210_211GG>TT c.(208-213)CTGGGC>CTTTGC p.G71C SYTL4_uc010nnc.2_Missense_Mutation_p.G71C|SYTL4_uc004ege.3_Missense_Mutation_p.G71C|SYTL4_uc004egf.3_Missense_Mutation_p.G71C|SYTL4_uc004egg.3_Missense_Mutation_p.G71C NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 71 RabBD.|FYVE-type. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCAAACGGCCCAGGCTCTCCT 0.545 NA 28 51 0 0 0.004672 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139699 101139699 + Nonsense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:101139699T>A uc004eim.2 - 2 3685 c.187A>T c.(187-189)AGA>TGA p.R63* ZMAT1_uc011mrl.1_Nonsense_Mutation_p.R234*|ZMAT1_uc004ein.2_Nonsense_Mutation_p.R63*|ZMAT1_uc011mrm.1_Nonsense_Mutation_p.R63* NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 63 nucleus zinc ion binding ovary(1) 1 TCTAGTCCTCTGGCTTTCTGC 0.408 NA 27 67 0 0 0.005443 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970387 101970387 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:101970387G>T uc004ejk.2 + 4 1924 c.590G>T c.(589-591)GGA>GTA p.G197V GPRASP2_uc004ejl.2_Missense_Mutation_p.G197V|GPRASP2_uc004ejm.2_Missense_Mutation_p.G197V|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 197 cytoplasm protein binding ovary(1) 1 CCCTGGTTTGGACCAGGGGAG 0.527 NA 34 141 4.3181e-19 5.95511e-19 0.013726 1 0 RAB9B 51209 broad.mit.edu 37 X 103080378 103080378 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:103080378C>T uc004ell.1 - 3 622 c.337G>A c.(337-339)GAC>AAC p.D113N RAB9B_uc004eli.1_Intron NM_016370 NP_057454 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family 113 Golgi to endosome transport|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(3) 3 TGCTCAGGGTCCTTCACATCC 0.483 NA 41 147 0 0 0.007835 0 0 ESX1 80712 broad.mit.edu 37 X 103499225 103499225 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:103499225C>A uc004ely.2 - 2 174 c.116G>T c.(115-117)AGG>ATG p.R39M NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 39 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTCTCCTCCCCTTGCCATCAG 0.592 Pancreas(200;1705 2227 25194 28471 45274) NA 42 152 1.57019e-19 2.17847e-19 0.007835 1 0 AGTR2 186 broad.mit.edu 37 X 115304569 115304569 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:115304569A>G uc004eqh.3 + 3 1243 c.1036A>G c.(1036-1038)AGT>GGT p.S346G NM_000686 NP_000677 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 346 Cytoplasmic (Potential). behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity ovary(2)|lung(1) 3 GAAAAGAGAGAGTATGTCTTG 0.428 NA 22 56 0 0 0.012319 0 0 LONRF3 79836 broad.mit.edu 37 X 118123528 118123528 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:118123528C>T uc004eqw.2 + 4 1248 c.1217C>T c.(1216-1218)CCA>CTA p.P406L LONRF3_uc004eqx.2_Missense_Mutation_p.P365L|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.P150L NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 406 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 GCTACCTCTCCAAAAGCTGCT 0.498 NA 8 30 0 0 0.004482 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298677 125298677 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:125298677G>T uc004euk.1 - 1 1258 c.1231C>A c.(1231-1233)CTC>ATC p.L411I NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 411 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 TCTTGGTTGAGCCAGCCTCTG 0.612 NA 31 106 1.62565e-12 2.01354e-12 0.012213 1 0 GPR119 139760 broad.mit.edu 37 X 129519241 129519241 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:129519241G>T uc011muv.1 - 1 181 c.181C>A c.(181-183)CTA>ATA p.L61I NM_178471 NP_848566 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 61 Extracellular (Potential). integral to membrane|plasma membrane lipid binding ovary(2) 2 TCTGTGAGTAGGCCAGAGATG 0.567 NA 89 89 1.09326e-46 1.58832e-46 0.01441 1 0 FRMD7 90167 broad.mit.edu 37 X 131212132 131212132 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:131212132T>C uc004ewn.2 - 12 2091 c.1913A>G c.(1912-1914)GAT>GGT p.D638G FRMD7_uc011muy.1_Missense_Mutation_p.D623G NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 638 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) TGTACTTTGATCCATTAGAAC 0.413 NA 22 68 0 0 0.00278 0 0 FAM127C 441518 broad.mit.edu 37 X 134156260 134156260 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:134156260A>T uc004eyc.1 - 1 307 c.230T>A c.(229-231)CTG>CAG p.L77Q NM_001078173 NP_001071641 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 77 0 Acute lymphoblastic leukemia(192;0.000127) CACCCACTGCAGGGCGGGCCC 0.602 NA 25 78 0 0 0.003954 0 0 PASD1 139135 broad.mit.edu 37 X 150840242 150840242 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:150840242C>A uc004fev.3 + 13 1760 c.1428C>A c.(1426-1428)GCC>GCA p.A476A NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 476 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTTGTGTTGCCTTCAACCAGG 0.463 NA 10 45 0.00829132 0.00868614 0.008291 1 0 GABRQ 55879 broad.mit.edu 37 X 151818215 151818215 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:151818215G>T uc004ffp.1 + 6 641 c.621G>T c.(619-621)ACG>ACT p.T207T NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 207 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ATGGTTACACGGTTGAAGACA 0.438 NA 20 68 3.99206e-14 5.13741e-14 0.007413 1 0 OPN1LW 5956 broad.mit.edu 37 X 153420089 153420089 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:153420089G>C uc004fjz.3 + 4 652 c.619G>C c.(619-621)GTG>CTG p.V207L NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 207 Extracellular. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGCCCAGACGTGTTCAGCGG 0.622 NA 15 87 0 0 0.00278 0 0 GDI1 2664 broad.mit.edu 37 X 153670994 153670994 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:153670994A>C uc004fli.3 + 11 1661 c.1319A>C c.(1318-1320)GAC>GCC p.D440A GDI1_uc004flj.2_Missense_Mutation_p.D105A|FAM50A_uc004fll.3_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 440 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAACAGAACGACGTCTTTGGA 0.557 NA 24 136 0 0 0.014323 0 0 PLXNA3 55558 broad.mit.edu 37 X 153699969 153699969 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:153699969G>A uc004flm.2 + 32 5681 c.5508G>A c.(5506-5508)AAG>AAA p.K1836K NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1836 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGTCACCAAGTACCGCCAGG 0.532 NA 23 50 0 0 0.014323 0 0 MPP1 4354 broad.mit.edu 37 X 154013434 154013434 + Splice_Site SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:154013434T>C uc004fmp.1 - 7 793 c.678_splice c.e7-1 p.W226_splice MPP1_uc010nvg.1_Splice_Site_p.W206_splice|MPP1_uc011mzv.1_Splice_Site_p.W196_splice|MPP1_uc004fmq.1_Splice_Site_p.W180_splice|MPP1_uc011mzw.1_Splice_Site_p.W209_splice|MPP1_uc010nvh.1_Intron NM_002436 NP_002427 Q00013 EM55_HUMAN palmitoylated membrane protein 1 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCCACTCGCCTGGTAGGAAAA 0.547 NA 17 14 0 0 0.004007 0 0 FUNDC2 65991 broad.mit.edu 37 X 154282872 154282872 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:154282872G>T uc004fmw.2 + 5 645 c.495G>T c.(493-495)GTG>GTT p.V165V NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 165 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTTTTCAGGTGGTGTCATTTG 0.373 NA 29 96 2.47511e-08 2.88762e-08 0.008361 1 0 VAMP7 6845 broad.mit.edu 37 X 155119210 155119210 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:155119210G>A uc004fnr.2 + 2 255 c.81G>A c.(79-81)GAG>GAA p.E27E VAMP7_uc004fnt.2_Silent_p.E27E|VAMP7_uc011naa.1_Missense_Mutation_p.S10N|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Silent_p.E27E|VAMP7_uc011nac.1_5'UTR NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 27 Longin.|Cytoplasmic (Potential). calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACTTCCTGGAGGTGACAGAGC 0.458 NA 12 60 0 0 0.010729 0 0 IL9R 3581 broad.mit.edu 37 X 155235830 155235830 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:155235830C>A uc004fnv.1 + 7 1043 c.864C>A c.(862-864)TAC>TAA p.Y288* IL9R_uc010nvn.2_Nonsense_Mutation_p.Y267*|IL9R_uc004fnu.1_Nonsense_Mutation_p.Y323* NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 288 Helical; (Potential). cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCCCGACCTACCTCCTGTTCA 0.423 NA 31 31 1.36615e-20 1.9126e-20 0.013726 1 0 PTAFR 5724 broad.mit.edu 37 1 28476723 28476723 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:28476723delG uc001bpl.2 - 2 937 c.810delC c.(808-810)GCCfs p.A270fs PTAFR_uc001bpm.3_Frame_Shift_Del_p.A270fs|PTAFR_uc009vte.2_Frame_Shift_Del_p.A270fs NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 270 Extracellular (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CATCATTAATGGCCTGGTGGA 0.547 NA 17 31 --- --- --- --- NA NA NA NA NA LPPR4 9890 broad.mit.edu 37 1 99771495 99771495 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:99771495delG uc001dse.2 + 7 1327 c.1221delG c.(1219-1221)AAGfs p.K407fs LPPR4_uc010oue.1_Frame_Shift_Del_p.K349fs NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 407 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCATGGGGAAGGAGAACATGG 0.483 NA 17 48 --- --- --- --- NA NA NA NA NA ABHD12B 145447 broad.mit.edu 37 14 51345565 51345565 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:51345565delG uc001wys.2 + 3 350 c.335delG c.(334-336)TGGfs p.W112fs ABHD12B_uc001wyq.2_Frame_Shift_Del_p.W5fs|ABHD12B_uc001wyr.2_Intron|ABHD12B_uc010any.2_RNA NM_181533 NP_853511 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B isoform b 112 hydrolase activity breast(1) 1 all_epithelial(31;0.00481)|Breast(41;0.148) CTAGGGATCTGGTGAGTGCAC 0.517 NA 51 64 --- --- --- --- NA NA NA NA NA ABCC11 85320 broad.mit.edu 37 16 48234288 48234288 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:48234288delG uc002eff.1 - 14 2331 c.1981delC c.(1981-1983)CTGfs p.L661fs ABCC11_uc002efg.1_Frame_Shift_Del_p.L661fs|ABCC11_uc002efh.1_Frame_Shift_Del_p.L661fs|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 661 ABC transporter 1.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ACAGCAGACAGGGGGTCGTCC 0.612 NA Cerumen_Type 17 40 --- --- --- --- NA NA NA NA NA TTC31 64427 broad.mit.edu 37 2 74718451 74718451 + Frame_Shift_Del DEL C C - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:74718451delC uc002slt.2 + 7 656 c.633delC c.(631-633)AGCfs p.S211fs TTC31_uc002sls.2_Frame_Shift_Del_p.S140fs|TTC31_uc010yrv.1_Frame_Shift_Del_p.S67fs|TTC31_uc002slu.2_Frame_Shift_Del_p.S67fs NM_022492 NP_071937 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 211 binding 0 GAGATGAGAGCCCCCCATCCA 0.542 NA 35 49 --- --- --- --- NA NA NA NA NA TMEM161B 153396 broad.mit.edu 37 5 87492083 87492083 + Frame_Shift_Del DEL A A - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:87492083delA uc003kjc.2 - 12 1534 c.1409delT c.(1408-1410)CTCfs p.L470fs TMEM161B_uc011cty.1_Frame_Shift_Del_p.L459fs|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Frame_Shift_Del_p.L261fs NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 470 Helical; (Potential). integral to membrane skin(2) 2 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) TGTAGAAAAGAGGCAAGCAGC 0.378 NA 8 18 --- --- --- --- NA NA NA NA NA BMPER 168667 broad.mit.edu 37 7 34006128 34006129 + Frame_Shift_Ins INS - - A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:34006128_34006129insA uc011kap.1 + 4 471_472 c.357_358insA c.(355-360)TTCAAAfs p.F119fs NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 119_120 VWFC 2. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 ACAGCTCCTTCAAATGGCAGAG 0.45 NA 20 61 --- --- --- --- NA NA NA NA NA POU6F2 11281 broad.mit.edu 37 7 39503780 39503780 + Splice_Site DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:39503780delG uc003thb.1 + 10 1614 c.1572_splice c.e10-1 p.R524_splice NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 TTCCCCCCCAGACACACCATC 0.448 NA 68 214 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55270296 55270296 + Frame_Shift_Del DEL C C - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:55270296delC uc003tqk.2 + 27 3495 c.3249delC c.(3247-3249)GACfs p.D1083fs EGFR_uc010kzg.1_Frame_Shift_Del_p.D1038fs|EGFR_uc011kco.1_Frame_Shift_Del_p.D1030fs NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 1083 Cytoplasmic (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ACAGCATAGACGACACCTTCC 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 8 13 --- --- --- --- NA NA NA NA NA NRCAM 4897 broad.mit.edu 37 7 107832248 107832248 + Frame_Shift_Del DEL C C - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:107832248delC uc003vfb.2 - 18 2299 c.1828delG c.(1828-1830)GACfs p.D610fs NRCAM_uc003vfc.2_Frame_Shift_Del_p.D604fs|NRCAM_uc011kmk.1_Frame_Shift_Del_p.D605fs|NRCAM_uc003vfd.2_Frame_Shift_Del_p.D586fs|NRCAM_uc003vfe.2_Frame_Shift_Del_p.D586fs NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 610 Ig-like 6.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 GTCCCGCTGTCATCGTCACTG 0.512 NA 14 36 --- --- --- --- NA NA NA NA NA FABP9 646480 broad.mit.edu 37 8 82370844 82370845 + Frame_Shift_Ins INS - - T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:82370844_82370845insT uc011lfo.1 - 3 340_341 c.340_341insA c.(340-342)ATGfs p.M114fs NM_001080526 NP_001073995 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 114 lipid binding|transporter activity 0 Epithelial(68;0.186) TACCACTACCATTTTTTCATCC 0.317 NA 9 9 --- --- --- --- NA NA NA NA NA NLGN4X 57502 broad.mit.edu 37 X 5821599 5821600 + Frame_Shift_Ins INS - - T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:5821599_5821600insT uc010ndh.2 - 5 1620_1621 c.1119_1120insA c.(1117-1122)CAAGGGfs p.Q373fs NLGN4X_uc004crp.2_Frame_Shift_Ins_p.Q393fs|NLGN4X_uc004crq.2_Frame_Shift_Ins_p.Q373fs|NLGN4X_uc010ndi.2_Frame_Shift_Ins_p.Q410fs|NLGN4X_uc004crr.2_Frame_Shift_Ins_p.Q373fs|NLGN4X_uc010ndj.2_Frame_Shift_Ins_p.Q373fs NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 373_374 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 AGGCCTTCCCCTTGGTTGACGC 0.579 NA 13 40 --- --- --- --- NA NA NA NA NA STARD8 9754 broad.mit.edu 37 X 67938187 67938187 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:67938187delG uc004dxa.2 + 5 1563 c.1191delG c.(1189-1191)GTGfs p.V397fs STARD8_uc004dxb.2_Frame_Shift_Del_p.V477fs|STARD8_uc004dxc.3_Frame_Shift_Del_p.V397fs NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 397 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CTGAACCAGTGGCACAGGAAG 0.532 NA 7 19 --- --- --- --- NA NA NA NA NA GUCY2F 2986 broad.mit.edu 37 X 108631849 108631849 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:108631849delG uc004eod.3 - 15 3101 c.2825delC c.(2824-2826)CCAfs p.P942fs GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 942 Guanylate cyclase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 ATTCCTCTTTGGGAGGCCTGA 0.458 NA 21 114 --- --- --- --- NA NA NA NA NA