Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample SLC2A5 6518 broad.mit.edu 37 1 9101954 9101954 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:9101954G>A uc001apo.2 - 5 753 c.461C>T c.(460-462)GCC>GTC p.A154V SLC2A5_uc010nzy.1_Missense_Mutation_p.A95V|SLC2A5_uc010nzz.1_Missense_Mutation_p.A39V|SLC2A5_uc010oaa.1_Missense_Mutation_p.A110V|SLC2A5_uc010oab.1_Missense_Mutation_p.A154V|SLC2A5_uc010oac.1_Silent_p.G112G|SLC2A5_uc001app.3_Missense_Mutation_p.A154V NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 154 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GTTTTTAGGGGCCAGCTCCCC 0.537 NaN 0 0 0 0.001168 0 5 16 TMEM54 113452 broad.mit.edu 37 1 33363895 33363895 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:33363895C>G uc001bwi.1 - 2 156 c.42G>C c.(40-42)CGG>CGC p.R14R TMEM54_uc001bwj.1_Silent_p.R14R|TMEM54_uc001bwk.1_Silent_p.R14R NM_033504 NP_277039 Q969K7 TMM54_HUMAN transmembrane protein 54 14 integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TCAGCACCTTCCGGAAGTCGC 0.632 NaN 0 0 0 0.001984 0 7 45 RLF 6018 broad.mit.edu 37 1 40697236 40697236 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:40697236C>G uc001cfc.3 + 7 1026 c.995C>G c.(994-996)TCT>TGT p.S332C RLF_uc001cfd.3_Missense_Mutation_p.S23C NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 332 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ATTGACCCTTCTTTAGATACT 0.358 NaN 0 0 0 0.010504 0 19 151 DEM1 64789 broad.mit.edu 37 1 40981078 40981078 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:40981078G>T uc001cfp.2 + 3 1067 c.862G>T c.(862-864)GAT>TAT p.D288Y DEM1_uc001cfq.2_Missense_Mutation_p.D288Y|DEM1_uc001cfr.2_Missense_Mutation_p.D288Y|DEM1_uc001cfs.2_Missense_Mutation_p.D288Y NM_022774 NP_073611 Q9H790 EXO5_HUMAN defects in morphology 1 homolog 288 DNA binding|exonuclease activity 0 CCCAGTTATTGATATCTTGAA 0.493 NaN 1 0 1.01871e-10 0.008871 1.11764e-10 16 362 TIE1 7075 broad.mit.edu 37 1 43782984 43782984 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:43782984G>C uc001ciu.2 + 15 2603 c.2524G>C c.(2524-2526)GAG>CAG p.E842Q TIE1_uc010oke.1_Missense_Mutation_p.E797Q|TIE1_uc009vwq.2_Missense_Mutation_p.E798Q|TIE1_uc010okg.1_Missense_Mutation_p.E487Q NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 842 Cytoplasmic (Potential).|Protein kinase. 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) CATCACCTTTGAGGACCTCAT 0.587 NaN 0 0 0 0.00499 0 14 162 SLC6A9 6536 broad.mit.edu 37 1 44474198 44474198 + Silent SNP C C T rs144161106 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:44474198C>T uc001cll.2 - 5 828 c.636G>A c.(634-636)ACG>ACA p.T212T SLC6A9_uc009vxe.2_Silent_p.T68T|SLC6A9_uc010okm.1_Silent_p.T139T|SLC6A9_uc001clm.2_Silent_p.T158T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.T143T|SLC6A9_uc001cln.2_Silent_p.T139T|SLC6A9_uc010oko.1_Silent_p.T28T|SLC6A9_uc010okp.1_RNA NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 212 Extracellular (Potential). integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GCAGCACGTGCGTCATGGACG 0.572 NaN 0 0 0 0.009096 0 4 114 C1orf163 65260 broad.mit.edu 37 1 53153747 53153747 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:53153747A>G uc001cui.1 - 3 381 c.341T>C c.(340-342)GTT>GCT p.V114A NM_023077 NP_075565 Q96BR5 SELR1_HUMAN hypothetical protein LOC65260 114 Sel1-like 3. binding 0 CAGGAGGCCAACGTTGTGACA 0.542 NaN 0 0 0 0.000602 0 5 98 YIPF1 54432 broad.mit.edu 37 1 54343992 54343992 + Silent SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:54343992G>T uc001cvu.2 - 6 697 c.360C>A c.(358-360)CTC>CTA p.L120L YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA NM_018982 NP_061855 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 120 Helical; (Potential). integral to membrane|transport vesicle large_intestine(1)|ovary(1) 2 ACATACCATAGAGATCTGGAT 0.423 NaN 1 0 1.024e-07 0.000602 1.10034e-07 5 172 PPAP2B 8613 broad.mit.edu 37 1 56990007 56990007 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:56990007C>T uc001cyj.1 - 4 1018 c.517G>A c.(517-519)GAA>AAA p.E173K NM_177414 NP_803133 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 173 Lumenal (Potential). canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity 0 ATGTAGCCTTCAGAGCAGTTG 0.537 NaN 0 0 0 0.002522 0 44 132 PPAP2B 8613 broad.mit.edu 37 1 56990203 56990203 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:56990203C>T uc001cyj.1 - 4 822 c.321G>A c.(319-321)CGG>CGA p.R107R NM_177414 NP_803133 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 107 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity 0 GGTAATAGATCCGGTAGAATT 0.483 NaN 0 0 0 0.002299 0 20 78 DAB1 1600 broad.mit.edu 37 1 57480619 57480619 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57480619C>A uc001cys.1 - 14 2055 c.1381G>T c.(1381-1383)GAC>TAC p.D461Y DAB1_uc001cyt.1_Missense_Mutation_p.D459Y|DAB1_uc001cyq.1_Missense_Mutation_p.D459Y|DAB1_uc001cyr.1_Missense_Mutation_p.D375Y|DAB1_uc009vzw.1_Missense_Mutation_p.D443Y|DAB1_uc009vzx.1_Missense_Mutation_p.D461Y NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 494 cell differentiation|nervous system development skin(2)|ovary(1) 3 ATGTCAAAGTCATCACAGTCG 0.522 NaN 1 0 2.27111e-07 0.001368 2.41558e-07 12 69 DAB1 1600 broad.mit.edu 37 1 57480687 57480687 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57480687C>G uc001cys.1 - 14 1987 c.1313G>C c.(1312-1314)TGT>TCT p.C438S DAB1_uc001cyt.1_Missense_Mutation_p.C436S|DAB1_uc001cyq.1_Missense_Mutation_p.C436S|DAB1_uc001cyr.1_Missense_Mutation_p.C352S|DAB1_uc009vzw.1_Missense_Mutation_p.C420S|DAB1_uc009vzx.1_Missense_Mutation_p.C438S NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 471 cell differentiation|nervous system development skin(2)|ovary(1) 3 CTCTGAGGTACAGGTGAGGGA 0.547 NaN 0 0 0 0.004482 0 9 56 DAB1 1600 broad.mit.edu 37 1 57480743 57480743 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57480743C>A uc001cys.1 - 14 1931 c.1257G>T c.(1255-1257)CAG>CAT p.Q419H DAB1_uc001cyt.1_Missense_Mutation_p.Q417H|DAB1_uc001cyq.1_Missense_Mutation_p.Q417H|DAB1_uc001cyr.1_Missense_Mutation_p.Q333H|DAB1_uc009vzw.1_Missense_Mutation_p.Q401H|DAB1_uc009vzx.1_Missense_Mutation_p.Q419H NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 452 cell differentiation|nervous system development skin(2)|ovary(1) 3 GCTGGGCCATCTGGAAATCCT 0.597 NaN 1 0 1.08611e-07 0.000978 1.16408e-07 12 56 DAB1 1600 broad.mit.edu 37 1 57480856 57480856 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57480856C>T uc001cys.1 - 14 1818 c.1144G>A c.(1144-1146)GGT>AGT p.G382S DAB1_uc001cyt.1_Missense_Mutation_p.G380S|DAB1_uc001cyq.1_Missense_Mutation_p.G380S|DAB1_uc001cyr.1_Missense_Mutation_p.G296S|DAB1_uc009vzw.1_Missense_Mutation_p.G364S|DAB1_uc009vzx.1_Missense_Mutation_p.G382S NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 415 cell differentiation|nervous system development skin(2)|ovary(1) 3 GTGAGGGGACCTTGGAACATG 0.602 NaN 0 0 0 0.001855 0 13 55 DAB1 1600 broad.mit.edu 37 1 57481004 57481004 + Silent SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57481004C>A uc001cys.1 - 14 1670 c.996G>T c.(994-996)GTG>GTT p.V332V DAB1_uc001cyt.1_Silent_p.V330V|DAB1_uc001cyq.1_Silent_p.V330V|DAB1_uc001cyr.1_Silent_p.V246V|DAB1_uc009vzw.1_Silent_p.V314V|DAB1_uc009vzx.1_Silent_p.V332V NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 365 cell differentiation|nervous system development skin(2)|ovary(1) 3 CCCCCGGCATCACCTGAGCGA 0.667 NaN 1 0 0.00307968 0.00308 0.00314745 8 46 LRRC7 57554 broad.mit.edu 37 1 70541913 70541913 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:70541913G>A uc001dep.2 + 22 4300 c.4270G>A c.(4270-4272)GGA>AGA p.G1424R LRRC7_uc009wbg.2_Missense_Mutation_p.G708R|LRRC7_uc001deq.2_Missense_Mutation_p.G618R NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1424 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GGCCACCCGGGGACCTCAGCC 0.468 NaN 0 0 0 0.001168 0 5 89 ASB17 127247 broad.mit.edu 37 1 76397741 76397741 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:76397741T>C uc001dhe.1 - 1 376 c.236A>G c.(235-237)TAC>TGC p.Y79C ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 79 intracellular signal transduction ovary(1) 1 TTCAAAACGGTATCCTGATTT 0.378 NaN 0 0 0 0.003163 0 15 63 LPHN2 23266 broad.mit.edu 37 1 82432119 82432119 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:82432119G>A uc001dit.3 + 12 2305 c.2124G>A c.(2122-2124)CGG>CGA p.R708R LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.R708R|LPHN2_uc001div.2_Silent_p.R708R|LPHN2_uc009wcd.2_Silent_p.R708R|LPHN2_uc001diw.2_Silent_p.R292R NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 721 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCATTTACCGGAGCCTGGGAC 0.373 NaN 0 0 0 0.00278 0 23 84 CCDC18 343099 broad.mit.edu 37 1 93677790 93677790 + Silent SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:93677790A>G uc001dpq.2 + 11 1989 c.1821A>G c.(1819-1821)GAA>GAG p.E607E CCDC18_uc009wdl.1_Silent_p.E168E NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 489 ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TAGAAACAGAACCTGTAAAGC 0.289 NaN 0 0 0 0.006999 0 34 179 COL11A1 1301 broad.mit.edu 37 1 103544384 103544384 + Silent SNP T T C rs150668398 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:103544384T>C uc001dul.2 - 3 636 c.318A>G c.(316-318)AAA>AAG p.K106K COL11A1_uc001dum.2_Silent_p.K106K|COL11A1_uc001dun.2_Silent_p.K106K|COL11A1_uc009weh.2_Silent_p.K106K NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 106 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTTTTTTGGTTTTACTGTAA 0.333 NaN 0 0 0 0.001368 0 13 39 KCND3 3752 broad.mit.edu 37 1 112524482 112524482 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:112524482G>C uc001ebu.1 - 2 1347 c.867C>G c.(865-867)CTC>CTG p.L289L KCND3_uc001ebv.1_Silent_p.L289L NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 289 Helical; Voltage-sensor; Name=Segment S4; (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GGAAGACCCGGAGCGTGACGA 0.602 NaN 0 0 0 0.00308 0 6 54 TTF2 8458 broad.mit.edu 37 1 117640030 117640030 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:117640030C>A uc001egy.2 + 21 3264 c.3244C>A c.(3244-3246)CAC>AAC p.H1082N NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 1082 Helicase C-terminal. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TGGAGGAAATCACCTCTTTCT 0.463 NaN 1 0 5.12918e-33 0.00361 5.73261e-33 53 249 PDE4DIP 9659 broad.mit.edu 37 1 144922578 144922578 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:144922578G>C uc001elw.3 - 7 1120 c.829C>G c.(829-831)CAA>GAA p.Q277E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q343E|PDE4DIP_uc001emc.1_Missense_Mutation_p.Q277E|PDE4DIP_uc001emd.1_Missense_Mutation_p.Q277E|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q440E|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.Q64E NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 277 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTTGCTTTTGAGACGACTCC 0.373 NaN T PDGFRB MPD 0 0 0 0.00361 0 69 762 SV2A 9900 broad.mit.edu 37 1 149879685 149879685 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:149879685T>C uc001etg.2 - 9 1944 c.1453A>G c.(1453-1455)AAA>GAA p.K485E SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.K485E NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 485 Extracellular (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GGGAACACTTTGGTGCGGGAT 0.527 NaN 0 0 0 0.00361 0 50 168 TARS2 80222 broad.mit.edu 37 1 150477198 150477198 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:150477198C>T uc001euq.2 + 15 1816 c.1809C>T c.(1807-1809)TGC>TGT p.C603C TARS2_uc001eur.2_Silent_p.C521C|TARS2_uc009wlt.2_Silent_p.C229C|TARS2_uc009wls.2_Silent_p.C473C NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 603 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGAAAGCTGCGGGGGGAAAT 0.567 NaN 0 0 0 0.007413 0 19 203 CTSS 1520 broad.mit.edu 37 1 150727584 150727584 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:150727584G>A uc001evn.2 - 4 425 c.292C>T c.(292-294)CCC>TCC p.P98S CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.P98S NM_004079 NP_004070 P25774 CATS_HUMAN cathepsin S preproprotein 98 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity 0 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) CACTGGCTGGGAACTCTCAGG 0.333 NaN 0 0 0 0.00308 0 8 302 FAM63A 55793 broad.mit.edu 37 1 150973046 150973046 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:150973046G>T uc001ewf.2 - 6 2306 c.622C>A c.(622-624)CTG>ATG p.L208M FAM63A_uc001ewc.2_Missense_Mutation_p.L66M|FAM63A_uc010pcm.1_Missense_Mutation_p.L113M|FAM63A_uc001ewd.2_Missense_Mutation_p.L66M|FAM63A_uc001ewe.2_Missense_Mutation_p.L42M|FAM63A_uc010pcn.1_Missense_Mutation_p.L256M|FAM63A_uc001ewg.2_Missense_Mutation_p.L208M NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 208 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTGACATCCAGACCTGTGGCC 0.493 NaN 1 0 8.60227e-14 0.004007 9.51257e-14 14 130 SCNM1 79005 broad.mit.edu 37 1 151139670 151139670 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151139670G>C uc001ewz.2 + 4 397 c.285G>C c.(283-285)TTG>TTC p.L95F LYSMD1_uc001ewy.2_5'Flank|LYSMD1_uc010pcr.1_5'Flank|SCNM1_uc010pcs.1_Missense_Mutation_p.L95F|SCNM1_uc009wmn.2_RNA NM_024041 NP_076946 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 95 mRNA processing|RNA splicing nucleus metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGAATGAATTGAGAAGGGAAG 0.483 NaN 0 0 0 0.004482 0 7 153 SELENBP1 8991 broad.mit.edu 37 1 151338296 151338296 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151338296C>T uc001exx.2 - 8 917 c.870G>A c.(868-870)GTG>GTA p.V290V SELENBP1_uc010pcy.1_Silent_p.V332V|SELENBP1_uc001exy.2_Silent_p.V187V|SELENBP1_uc001exz.2_Silent_p.V187V|SELENBP1_uc010pcz.1_Silent_p.V228V|SELENBP1_uc009wms.2_Silent_p.V126V|SELENBP1_uc009wmt.2_Silent_p.V187V|SELENBP1_uc001eya.2_Silent_p.V226V|SELENBP1_uc009wmu.2_Silent_p.V187V NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 290 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCACCTGGATCACCTTCTCCA 0.552 NaN 0 0 0 0.004007 0 16 219 POGZ 23126 broad.mit.edu 37 1 151378787 151378787 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151378787G>A uc001eyd.1 - 19 3030 c.2724C>T c.(2722-2724)CTC>CTT p.L908L POGZ_uc001eye.1_Silent_p.L855L|POGZ_uc010pdb.1_Silent_p.L899L|POGZ_uc001eyf.1_Silent_p.L864L|POGZ_uc010pdc.1_Silent_p.L846L|POGZ_uc009wmv.1_Silent_p.L813L|POGZ_uc010pdd.1_Silent_p.L399L NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 908 Pro-rich. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTGGTGATGGGAGTGCTGGGG 0.597 NaN 0 0 0 0.003163 0 15 61 CGN 57530 broad.mit.edu 37 1 151506505 151506505 + Silent SNP C C A rs142498835 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151506505C>A uc009wmw.2 + 15 2941 c.2797C>A c.(2797-2799)CGG>AGG p.R933R CGN_uc010pde.1_5'Flank NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 927 Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGACACAGCCCGGCTGGACAA 0.637 NaN 1 0 0.00909568 0.009096 0.00918356 4 50 RORC 6097 broad.mit.edu 37 1 151801935 151801935 + Splice_Site SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151801935C>T uc001ezh.2 - 2 149 c.41_splice c.e2-1 p.E14_splice RORC_uc010pdo.1_Splice_Site_p.E68_splice|RORC_uc010pdp.1_Splice_Site_p.E14_splice NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCAGCAGCTCTGTAAAGACA 0.532 NaN 0 0 0 0.00278 0 24 99 FLG 2312 broad.mit.edu 37 1 152281252 152281252 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:152281252C>T uc001ezu.1 - 3 6146 c.6110G>A c.(6109-6111)CGA>CAA p.R2037Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2037 Ser-rich.|Filaggrin 12. 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) ACTGTACCCTCGGTGTCCACT 0.557 NaN Ichthyosis 0 0 0 0.010504 0 20 853 FLG 2312 broad.mit.edu 37 1 152287037 152287037 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:152287037T>C uc001ezu.1 - 3 361 c.325A>G c.(325-327)AAA>GAA p.K109E uc001ezv.2_Intron NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 109 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) TCTTCATGTTTATCATGATGA 0.358 NaN Ichthyosis 0 0 0 0.00245 0 15 253 LCE1F 353137 broad.mit.edu 37 1 152749146 152749146 + Nonsense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:152749146C>G uc010pdv.1 + 1 299 c.299C>G c.(298-300)TCA>TGA p.S100* NM_178354 NP_848131 Q5T754 LCE1F_HUMAN late cornified envelope 1F 100 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCAGCCCTCAGCGGGCTCC 0.642 NaN 0 0 0 0.00308 0 6 47 INTS3 65123 broad.mit.edu 37 1 153724860 153724860 + Nonsense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:153724860C>T uc009wom.2 + 9 1056 c.835C>T c.(835-837)CAG>TAG p.Q279* INTS3_uc001fct.2_Nonsense_Mutation_p.Q279*|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Nonsense_Mutation_p.Q73*|INTS3_uc010peb.1_Nonsense_Mutation_p.Q73*|INTS3_uc001fcw.2_5'UTR NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 280 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCATAATCCTCAGGCCTTGAG 0.433 NaN 0 0 0 0.006122 0 17 470 PBXIP1 57326 broad.mit.edu 37 1 154924271 154924271 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:154924271C>T uc001ffr.2 - 3 237 c.178G>A c.(178-180)GGG>AGG p.G60R PBXIP1_uc001ffs.2_Missense_Mutation_p.G31R|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 60 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGCCCAGTACCTTCTCCATCC 0.522 NaN 0 0 0 0.000978 0 12 457 DAP3 7818 broad.mit.edu 37 1 155695275 155695275 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:155695275C>G uc001flq.2 + 5 542 c.373C>G c.(373-375)CTT>GTT p.L125V DAP3_uc001flr.2_Missense_Mutation_p.L125V|DAP3_uc001fls.2_Missense_Mutation_p.L125V|DAP3_uc010pgl.1_Missense_Mutation_p.L84V|DAP3_uc001flt.2_Missense_Mutation_p.L91V|DAP3_uc001flu.2_Missense_Mutation_p.L125V|DAP3_uc010pgm.1_Missense_Mutation_p.L91V NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 125 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TATACGATATCTTCTGTGTAT 0.418 NaN 0 0 0 0.009535 0 25 141 HAPLN2 60484 broad.mit.edu 37 1 156593922 156593922 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:156593922G>A uc001fpn.1 + 4 816 c.409G>A c.(409-411)GAG>AAG p.E137K HAPLN2_uc010phq.1_Missense_Mutation_p.E137K NM_021817 NP_068589 Q9GZV7 HPLN2_HUMAN brain link protein-1 precursor 137 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CATCGAGGACGAGAGCGTGGC 0.697 NaN 0 0 0 0.009096 0 4 26 NES 10763 broad.mit.edu 37 1 156642464 156642464 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:156642464C>G uc001fpq.2 - 4 1649 c.1516G>C c.(1516-1518)GAG>CAG p.E506Q NM_006617 NP_006608 P48681 NEST_HUMAN nestin 506 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) GTTTCTTTCTCTACCAACCCC 0.502 NaN 0 0 0 0.003271 0 31 267 ALDH9A1 223 broad.mit.edu 37 1 165649774 165649774 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:165649774G>A uc001gdh.1 - 5 844 c.739C>T c.(739-741)CCC>TCC p.P247S ALDH9A1_uc010pky.1_Missense_Mutation_p.P153S|ALDH9A1_uc010pkz.1_Missense_Mutation_p.P237S|ALDH9A1_uc010pla.1_Missense_Mutation_p.P153S NM_000696 NP_000687 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9A1 223 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) GCCACATCGGGATGCTGACAC 0.532 NaN 0 0 0 0.00623 0 39 186 TBX19 9095 broad.mit.edu 37 1 168278089 168278089 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:168278089C>G uc001gfl.2 + 7 1077 c.1026C>G c.(1024-1026)ACC>ACG p.T342T TBX19_uc001gfj.3_Silent_p.T210T|TBX19_uc001gfm.2_Silent_p.T45T NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 342 anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) TACCCCACACCAACGGACCAA 0.507 NaN 0 0 0 0.001368 0 11 156 SCYL3 57147 broad.mit.edu 37 1 169847899 169847899 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:169847899T>A uc001ggs.2 - 3 425 c.227A>T c.(226-228)GAT>GTT p.D76V SCYL3_uc001ggt.2_Missense_Mutation_p.D76V|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 76 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATGAATGCCATCCGCTTCCAC 0.443 NaN 0 0 0 0.00361 0 54 193 PRG4 10216 broad.mit.edu 37 1 186273374 186273374 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:186273374G>C uc001gru.3 + 5 505 c.454G>C c.(454-456)GAG>CAG p.E152Q PRG4_uc001grt.3_Missense_Mutation_p.E111Q|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 152 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TATAGAATCAGAGGAAATAAC 0.398 NaN 0 0 0 0.001168 0 6 73 CFHR3 10878 broad.mit.edu 37 1 196749062 196749062 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:196749062C>T uc001gtl.2 + 3 476 c.389C>T c.(388-390)ACG>ATG p.T130M CFHR3_uc001gtk.2_Missense_Mutation_p.T130M|CFHR3_uc010poy.1_Missense_Mutation_p.T130M|CFHR1_uc001gtm.2_Intron NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 130 Sushi 2. extracellular space 0 GTTACATGTACGGAGAAAGGC 0.473 NaN 0 0 0 0.009096 0 4 74 RNPEP 6051 broad.mit.edu 37 1 201972454 201972454 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:201972454G>A uc001gxd.2 + 9 1545 c.1516G>A c.(1516-1518)GAA>AAA p.E506K RNPEP_uc001gxe.2_Missense_Mutation_p.E207K|RNPEP_uc001gxf.2_Missense_Mutation_p.E375K NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase 506 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding upper_aerodigestive_tract(1) 1 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) GAAGCCTGCTGAAGAGCTAGC 0.582 NaN 0 0 0 0.00245 0 14 16 ELF3 1999 broad.mit.edu 37 1 201981201 201981201 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:201981201C>G uc001gxg.3 + 2 3472 c.280C>G c.(280-282)CGA>GGA p.R94G ELF3_uc001gxi.3_Missense_Mutation_p.R94G|ELF3_uc001gxh.3_Missense_Mutation_p.R94G NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 94 PNT. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 TGACTTCTCACGATGTGACAT 0.582 NaN 0 0 0 0.00308 0 7 83 USH2A 7399 broad.mit.edu 37 1 215812566 215812566 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:215812566C>G uc001hku.1 - 69 15370 c.14983G>C c.(14983-14985)GTC>CTC p.V4995L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4995 Fibronectin type-III 35.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGCAGATGACCTGGAAAAAG 0.403 NaN HNSCC(13;0.011) 0 0 0 0.001168 0 6 144 DISP1 84976 broad.mit.edu 37 1 223177617 223177617 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:223177617G>C uc001hnu.1 + 8 3025 c.2878G>C c.(2878-2880)GAA>CAA p.E960Q NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 960 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TTCGGCCCCTGAAGGCCTCAG 0.507 NaN 0 0 0 0.004672 0 3 47 TLR5 7100 broad.mit.edu 37 1 223285979 223285979 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:223285979G>C uc001hnv.1 - 4 841 c.395C>G c.(394-396)TCT>TGT p.S132C TLR5_uc001hnw.1_Missense_Mutation_p.S132C NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 132 Extracellular (Potential). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) TACAGCATCAGAGAGACCACA 0.383 NaN 0 0 0 0.00308 0 7 91 SLC35F3 148641 broad.mit.edu 37 1 234367379 234367379 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:234367379T>C uc001hwa.1 + 2 521 c.293T>C c.(292-294)TTC>TCC p.F98S SLC35F3_uc001hvy.1_Missense_Mutation_p.F167S NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 98 Helical; (Potential). transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GACGCGCCCTTCACCCTCACG 0.587 NaN 0 0 0 0.007413 0 17 134 CNST 163882 broad.mit.edu 37 1 246754982 246754982 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:246754982G>C uc001ibp.2 + 2 496 c.118G>C c.(118-120)GAA>CAA p.E40Q CNST_uc001ibo.3_Missense_Mutation_p.E40Q NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 40 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 AGATGAAAATGAAAATCAGCT 0.478 NaN 0 0 0 0.004482 0 7 77 CNST 163882 broad.mit.edu 37 1 246829073 246829073 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:246829073G>A uc001ibp.2 + 11 2422 c.2044G>A c.(2044-2046)GGA>AGA p.G682R NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 682 Helical; (Potential). positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 CAGTGTTGGAGGAACTGCATT 0.443 NaN 0 0 0 0.000602 0 5 100 OR11L1 391189 broad.mit.edu 37 1 248004359 248004359 + Silent SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:248004359C>A uc001idn.1 - 1 840 c.840G>T c.(838-840)GTG>GTT p.V280V NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTGGTGTGACCACAGTGTAGA 0.443 NaN 1 0 1.9806e-07 0.002299 2.11737e-07 23 65 USP6NL 9712 broad.mit.edu 37 10 11505382 11505382 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:11505382G>A uc001ikt.3 - 15 1866 c.1545C>T c.(1543-1545)CTC>CTT p.L515L USP6NL_uc001iks.1_Silent_p.L532L NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 515 intracellular Rab GTPase activator activity 0 CGGTAACTGCGAGCGCGGGGT 0.587 NaN 0 0 0 0.00333 0 23 145 CUBN 8029 broad.mit.edu 37 10 16911847 16911847 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:16911847C>G uc001ioo.2 - 59 9294 c.9242G>C c.(9241-9243)AGT>ACT p.S3081T CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.S437T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3081 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATCAAAATCACTGAACCTGTG 0.413 NaN 0 0 0 0.001368 0 12 64 CSTF2T 23283 broad.mit.edu 37 10 53458275 53458275 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:53458275G>C uc001jjp.2 - 1 1081 c.1035C>G c.(1033-1035)GTC>GTG p.V345V PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 345 Gly-rich. mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) CTTCTCCAGTGACTGAAAGCA 0.582 NaN 0 0 0 0.008871 0 20 73 MYST4 23522 broad.mit.edu 37 10 76781861 76781861 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:76781861G>C uc001jwn.1 + 16 3737 c.3244G>C c.(3244-3246)GAA>CAA p.E1082Q MYST4_uc001jwm.1_Missense_Mutation_p.E790Q|MYST4_uc001jwo.1_Missense_Mutation_p.E790Q|MYST4_uc001jwp.1_Missense_Mutation_p.E899Q NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1082 Poly-Glu. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) ggaggaggaagaagaggagga 0.274 NaN T CREBBP AML OREG0020273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 67 CYP26A1 1592 broad.mit.edu 37 10 94836385 94836385 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:94836385G>C uc001kil.2 + 6 1129 c.1084G>C c.(1084-1086)GAG>CAG p.E362Q CYP26A1_uc001kik.1_Missense_Mutation_p.E293Q|CYP26A1_uc001kim.1_Missense_Mutation_p.E260Q NM_000783 NP_000774 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, 362 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 Colorectal(252;0.122) TGTTATTAAGGAGACCCTTCG 0.388 NaN 0 0 0 0.00278 0 22 77 TCTN3 26123 broad.mit.edu 37 10 97446269 97446269 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:97446269C>G uc001klb.3 - 7 1115 c.871G>C c.(871-873)GAT>CAT p.D291H TCTN3_uc001kla.3_Missense_Mutation_p.D140H|TCTN3_uc010qoi.1_Missense_Mutation_p.D212H|TCTN3_uc001kld.2_Missense_Mutation_p.D309H|TCTN3_uc009xux.1_Missense_Mutation_p.D140H|TCTN3_uc009xuy.1_RNA NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN tectonic 3 isoform a precursor 291 Extracellular (Potential). apoptosis integral to membrane 0 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) TTCTGTGGATCAGTCATGCTT 0.398 NaN 0 0 0 0.00245 0 14 155 CC2D2B 387707 broad.mit.edu 37 10 97775978 97775978 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:97775978C>T uc001kll.2 + 6 628 c.429C>T c.(427-429)ATC>ATT p.I143I uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Silent_p.I143I NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 143 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) GTTTAGCTATCGGAAATAAGG 0.418 NaN 0 0 0 0.004007 0 15 51 SEC31B 25956 broad.mit.edu 37 10 102265919 102265919 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:102265919C>G uc001krc.1 - 9 1024 c.922G>C c.(922-924)GAT>CAT p.D308H SEC31B_uc010qpo.1_Missense_Mutation_p.D307H|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.D311H|SEC31B_uc009xwn.1_Missense_Mutation_p.D308H|SEC31B_uc009xwo.1_Missense_Mutation_p.D308H|SEC31B_uc010qpq.1_Missense_Mutation_p.D151H NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 308 WD 6. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CACTGCACATCAAAGCACCAG 0.517 NaN 0 0 0 0.000978 0 12 98 FAM178A 55719 broad.mit.edu 37 10 102676898 102676898 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:102676898G>C uc001krt.3 + 3 1298 c.756G>C c.(754-756)TTG>TTC p.L252F FAM178A_uc001krr.1_Missense_Mutation_p.L252F|FAM178A_uc001krs.2_Missense_Mutation_p.L252F|FAM178A_uc001kru.1_Missense_Mutation_p.L188F NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 252 0 TAAAGAGGTTGAGAAAGGAGC 0.438 NaN 0 0 0 0.001855 0 12 76 GBF1 8729 broad.mit.edu 37 10 104139673 104139673 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:104139673G>C uc001kux.1 + 36 5077 c.4837G>C c.(4837-4839)GAG>CAG p.E1613Q GBF1_uc001kuy.1_Missense_Mutation_p.E1609Q|GBF1_uc001kuz.1_Missense_Mutation_p.E1610Q NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1613 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GGGTGGGATGGAGGAGACCCG 0.547 NaN 0 0 0 0.001984 0 6 32 SH3PXD2A 9644 broad.mit.edu 37 10 105495508 105495508 + Silent SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:105495508G>T uc001kxj.1 - 4 428 c.288C>A c.(286-288)CCC>CCA p.P96P SH3PXD2A_uc010qqu.1_Silent_p.P26P NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 96 PX. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) ATTCATCGATGGGCTTCAGTC 0.582 NaN 1 0 4.67007e-22 0.00874 5.20557e-22 25 112 GRK5 2869 broad.mit.edu 37 10 121156215 121156215 + Nonsense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:121156215T>A uc001led.2 + 4 503 c.270T>A c.(268-270)TAT>TAA p.Y90* GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'UTR NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 90 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) AGGCAGAATATGAAGTTACTC 0.333 NaN 0 0 0 0.000602 0 4 87 INPP5F 22876 broad.mit.edu 37 10 121541205 121541205 + Silent SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:121541205A>G uc001leo.2 + 3 403 c.237A>G c.(235-237)GGA>GGG p.G79G INPP5F_uc001len.3_Silent_p.G79G NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 79 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) AACTCCCAGGAGACCATGAGG 0.423 NaN 0 0 0 0.006122 0 19 68 EPS8L2 64787 broad.mit.edu 37 11 721618 721618 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:721618G>A uc001lqt.2 + 10 1069 c.822G>A c.(820-822)CAG>CAA p.Q274Q EPS8L2_uc010qwj.1_Silent_p.Q290Q|EPS8L2_uc001lqu.2_Silent_p.Q274Q|EPS8L2_uc010qwk.1_Silent_p.Q290Q|EPS8L2_uc001lqv.2_Silent_p.Q229Q|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 274 cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCGGCTGCAGAAGGCAGCCG 0.557 NaN 0 0 0 0.001984 0 6 5 OR10A5 144124 broad.mit.edu 37 11 6867721 6867721 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:6867721G>C uc001met.1 + 1 808 c.808G>C c.(808-810)GAG>CAG p.E270Q NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TAATTCTCCTGAGAGCAAGAA 0.423 NaN 0 0 0 0.00361 0 59 171 LDHAL6A 160287 broad.mit.edu 37 11 18487256 18487256 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:18487256G>A uc001mop.1 + 4 578 c.317G>A c.(316-318)CGC>CAC p.R106H LDHAL6A_uc001moq.2_Missense_Mutation_p.R106H NM_001144071 NP_001137543 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 106 Substrate (By similarity). glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) GGAGAAACACGCCTTGATTTA 0.388 NaN 0 0 0 0.006214 0 10 124 MYBPC3 4607 broad.mit.edu 37 11 47364473 47364473 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:47364473G>A uc001nfa.3 - 15 1420 c.1365C>T c.(1363-1365)CTC>CTT p.L455L MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 454 Ig-like C2-type 3. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) GGCGCGTGATGAGCACAGGGG 0.632 NaN 0 0 0 0.004672 0 3 10 OR5AK2 390181 broad.mit.edu 37 11 56756546 56756546 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:56756546C>G uc010rjp.1 + 1 158 c.158C>G c.(157-159)TCC>TGC p.S53C NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 AACACAGATTCCAGATTTCAA 0.378 NaN 0 0 0 0.00361 0 79 57 TNKS1BP1 85456 broad.mit.edu 37 11 57080263 57080263 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:57080263G>A uc001njr.2 - 4 2211 c.1899C>T c.(1897-1899)CTC>CTT p.L633L TNKS1BP1_uc001njs.2_Silent_p.L633L|TNKS1BP1_uc009ymd.1_Silent_p.L84L NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 633 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) CATCAGCAAAGAGAACACAGG 0.662 NaN 0 0 0 0.003163 0 10 24 OR9Q1 219956 broad.mit.edu 37 11 57946980 57946980 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:57946980G>A uc001nmj.2 + 3 380 c.64G>A c.(64-66)GAA>AAA p.E22K NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) TGAATATCCTGAATGGGCACT 0.453 NaN 0 0 0 0.008291 0 10 144 OR9Q2 219957 broad.mit.edu 37 11 57958572 57958572 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:57958572C>G uc010rka.1 + 1 610 c.610C>G c.(610-612)CTT>GTT p.L204V NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) TGTGTTTGCTCTTTTCGTCAT 0.473 NaN 0 0 0 0.004289 0 35 25 NRXN2 9379 broad.mit.edu 37 11 64427940 64427940 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:64427940C>T uc001oar.2 - 12 2692 c.2253G>A c.(2251-2253)ACG>ACA p.T751T NRXN2_uc001oas.2_Silent_p.T720T|NRXN2_uc001oaq.2_Silent_p.T418T NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCTCTGCCTCCGTGTGCATGG 0.602 NaN 0 0 0 0.000602 0 5 35 RASGRP2 10235 broad.mit.edu 37 11 64502637 64502637 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:64502637G>A uc009ypu.2 - 12 1586 c.1359C>T c.(1357-1359)ATC>ATT p.I453I RASGRP2_uc001oat.2_Silent_p.I355I|RASGRP2_uc001oau.2_Silent_p.I308I|RASGRP2_uc009ypv.2_Silent_p.I453I|RASGRP2_uc009ypw.2_Silent_p.I453I NM_001098671 NP_001092141 Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 453 EF-hand 1. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity 0 TCCCACGGATGATCTGGAATT 0.557 NaN 0 0 0 0.003163 0 15 47 KDM2A 22992 broad.mit.edu 37 11 67017821 67017821 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:67017821C>T uc001ojw.2 + 17 3184 c.2320C>T c.(2320-2322)CGG>TGG p.R774W KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Missense_Mutation_p.R468W|KDM2A_uc010rpn.1_Missense_Mutation_p.R335W|KDM2A_uc001ojz.1_Missense_Mutation_p.R232W|KDM2A_uc001oka.2_5'Flank NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 CACCATGGTACGGGAAAAGGA 0.617 NaN 0 0 0 0.001984 0 7 24 UBTFL1 642623 broad.mit.edu 37 11 89819393 89819393 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:89819393A>T uc010rub.1 + 1 276 c.276A>T c.(274-276)AAA>AAT p.K92N NM_001143975 NP_001137447 P0CB47 UBFL1_HUMAN upstream binding transcription factor, RNA 92 multicellular organismal development cytoplasm|nucleus DNA binding 0 AAAGCCAAAAATACAGGAACG 0.418 NaN 0 0 0 0.00333 0 23 18 BCL9L 283149 broad.mit.edu 37 11 118771774 118771774 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:118771774G>A uc001pug.2 - 6 3643 c.2678C>T c.(2677-2679)CCC>CTC p.P893L BCL9L_uc009zal.2_Missense_Mutation_p.P888L NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 893 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGACGCAGGGGGCAGAGGCAT 0.602 NaN 0 0 0 0.00278 0 19 16 KDM5A 5927 broad.mit.edu 37 12 420231 420231 + Splice_Site SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:420231C>G uc001qif.1 - 21 3400 c.3037_splice c.e21-1 p.S1013_splice KDM5A_uc001qie.1_Splice_Site_p.S1013_splice|KDM5A_uc010sdn.1_Splice_Site_p.S972_splice NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TGCTGCCACTCTGAAAAACCA 0.418 NaN T NUP98 AML 0 0 0 0.004672 0 3 36 CD163 9332 broad.mit.edu 37 12 7639982 7639982 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:7639982C>T uc001qsz.3 - 8 2151 c.2023G>A c.(2023-2025)GAG>AAG p.E675K CD163_uc001qta.3_Missense_Mutation_p.E675K|CD163_uc009zfw.2_Missense_Mutation_p.E708K NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 675 SRCR 6.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GCCACTTGCTCTGAAGGACAT 0.468 NaN 0 0 0 0.000602 0 5 46 A2M 2 broad.mit.edu 37 12 9268390 9268390 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:9268390A>G uc001qvk.1 - 1 169 c.56T>C c.(55-57)CTG>CCG p.L19P A2M_uc009zgk.1_5'UTR NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 19 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GTCTGTGGGCAGGAGGACCAA 0.468 NaN 0 0 0 0.001368 0 13 91 GSG1 83445 broad.mit.edu 37 12 13256440 13256440 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:13256440C>G uc001rbn.2 - 1 180 c.7G>C c.(7-9)GAT>CAT p.D3H GSG1_uc001rbo.2_Missense_Mutation_p.D3H|GSG1_uc001rbp.2_Missense_Mutation_p.D3H|GSG1_uc001rbq.1_Missense_Mutation_p.D3H NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 Error:Variant_position_missing_in_Q2KHT4_after_alignment endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TGAGAGGGATCGCTCATTCAC 0.428 NaN 0 0 0 0.005443 0 26 232 GUCY2C 2984 broad.mit.edu 37 12 14827597 14827597 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:14827597G>T uc001rcd.2 - 8 1183 c.1046C>A c.(1045-1047)CCC>CAC p.P349H GUCY2C_uc009zhz.2_Missense_Mutation_p.P349H NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 349 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 AGCAAATTTGGGGGTGGTAAT 0.388 NaN 1 0 9.70103e-10 0.008291 1.056e-09 10 189 EPS8 2059 broad.mit.edu 37 12 15803941 15803941 + Splice_Site SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:15803941C>T uc009zif.2 - 14 1345 c.1251_splice c.e14-1 p.R417_splice EPS8_uc001rdb.2_Splice_Site_p.R417_splice|EPS8_uc009zig.2_Splice_Site_p.R157_splice|EPS8_uc010shv.1_Splice_Site_p.R157_splice NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CCACTCTGCTCTGCAGGAGGG 0.448 NaN 0 0 0 0.001368 0 12 72 SLCO1B3 28234 broad.mit.edu 37 12 21028199 21028199 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:21028199G>C uc001rek.2 + 8 884 c.758G>C c.(757-759)CGT>CCT p.R253P SLCO1B3_uc001rel.2_Missense_Mutation_p.R253P|SLCO1B3_uc010sil.1_Missense_Mutation_p.R253P|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.R78P NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 253 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AAGGACTCTCGTTGGGTTGGA 0.378 NaN 0 0 0 0.009718 0 42 272 ITPR2 3709 broad.mit.edu 37 12 26839539 26839539 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:26839539C>G uc001rhg.2 - 11 1440 c.1023G>C c.(1021-1023)AAG>AAC p.K341N NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 341 Cytoplasmic (Potential).|MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GGCGTTTTTTCTTTGAAGTTG 0.413 NaN 0 0 0 0.001855 0 13 260 BICD1 636 broad.mit.edu 37 12 32480490 32480490 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:32480490G>A uc001rku.2 + 5 1182 c.1101G>A c.(1099-1101)CGG>CGA p.R367R BICD1_uc001rkv.2_Silent_p.R367R|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 367 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGCATGAGCGGGTGCACCGGC 0.612 NaN 0 0 0 0.00308 0 8 61 CNTN1 1272 broad.mit.edu 37 12 41337797 41337797 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:41337797A>G uc001rmm.1 + 14 1621 c.1508A>G c.(1507-1509)GAT>GGT p.D503G CNTN1_uc009zjy.1_Missense_Mutation_p.D503G|CNTN1_uc001rmn.1_Missense_Mutation_p.D492G|CNTN1_uc001rmo.2_Missense_Mutation_p.D503G NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 503 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.D503H(1) lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AAATATATAGATCCTACGCGA 0.338 NaN 0 0 0 0.001855 0 11 60 PLEKHA9 51054 broad.mit.edu 37 12 45567619 45567619 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:45567619G>A uc001rom.1 - 3 1067 c.530C>T c.(529-531)TCA>TTA p.S177L PLEKHA9_uc009zke.2_Missense_Mutation_p.S177L NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) AGAGCAACTTGAGTCTGATCC 0.388 NaN 0 0 0 0.004482 0 7 182 RND1 27289 broad.mit.edu 37 12 49258602 49258602 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:49258602C>T uc001rsn.2 - 2 275 c.172G>A c.(172-174)GAA>AAA p.E58K NM_014470 NP_055285 Q92730 RND1_HUMAN GTP-binding protein RHO6 precursor 58 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding ovary(1) 1 ACCCTCTGTTCCTCTGTCTCC 0.507 NaN 0 0 0 0.00632 0 25 176 SLC4A8 9498 broad.mit.edu 37 12 51845973 51845973 + Nonsense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:51845973G>T uc001rys.1 + 4 521 c.343G>T c.(343-345)GAG>TAG p.E115* SLC4A8_uc010sni.1_Nonsense_Mutation_p.E62*|SLC4A8_uc001rym.2_Nonsense_Mutation_p.E62*|SLC4A8_uc001ryn.2_Nonsense_Mutation_p.E62*|SLC4A8_uc001ryo.2_Nonsense_Mutation_p.E62*|SLC4A8_uc001ryp.1_Nonsense_Mutation_p.E62*|SLC4A8_uc010snj.1_Nonsense_Mutation_p.E142*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.E115*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.E115*|SLC4A8_uc010snk.1_Nonsense_Mutation_p.E62* NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 115 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) TGTGCCTCATGAGCTGTTTAC 0.478 NaN 1 0 3.59834e-05 0.001168 3.74155e-05 6 222 KRT6A 3853 broad.mit.edu 37 12 52882204 52882204 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:52882204C>T uc001sam.2 - 7 1541 c.1332G>A c.(1330-1332)CTG>CTA p.L444L NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 444 Rod.|Coil 2. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) ACTCCTTCAGCAGCCGGGCCA 0.612 NaN 0 0 0 0.002096 0 30 40 TCTN1 79600 broad.mit.edu 37 12 111064234 111064234 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:111064234C>G uc009zvs.2 + 3 517 c.409C>G c.(409-411)CAA>GAA p.Q137E TCTN1_uc010syb.1_Missense_Mutation_p.Q137E|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.Q77E|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.Q137E|TCTN1_uc001trn.3_Missense_Mutation_p.Q137E|TCTN1_uc001tri.2_Missense_Mutation_p.Q81E|TCTN1_uc001trj.1_Missense_Mutation_p.Q81E|TCTN1_uc001trk.3_RNA NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 137 multicellular organismal development extracellular region 0 AAACCCACCTCAAAGAGTATT 0.313 NaN 0 0 0 0.00308 0 8 41 C12orf51 283450 broad.mit.edu 37 12 112666449 112666449 + Splice_Site SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:112666449A>G uc009zwc.2 - 35 5436 c.5418_splice c.e35+1 p.E1806_splice C12orf51_uc001ttr.1_5'Flank NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 AAATCACCTTACCTCTGATCT 0.403 NaN 0 0 0 0.004482 0 9 83 TBX3 6926 broad.mit.edu 37 12 115115443 115115443 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:115115443C>G uc001tvt.1 - 5 1847 c.883G>C c.(883-885)GAC>CAC p.D295H TBX3_uc001tvu.1_Missense_Mutation_p.D275H NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 295 T-box; second part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GGGTTGTTGTCTATTTTTAAC 0.358 NaN 0 0 0 0.006122 0 16 125 EP400 57634 broad.mit.edu 37 12 132475243 132475243 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:132475243G>T uc001ujn.2 + 8 2648 c.2613G>T c.(2611-2613)CAG>CAT p.Q871H EP400_uc001ujl.2_Missense_Mutation_p.Q870H|EP400_uc001ujm.2_Missense_Mutation_p.Q871H|EP400_uc001ujj.1_Missense_Mutation_p.Q834H|EP400_uc001ujk.2_Missense_Mutation_p.Q907H NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 907 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TAAATTTACAGAAAGTTTCCA 0.393 NaN 1 0 1.49906e-05 0.00245 1.57044e-05 13 51 SACS 26278 broad.mit.edu 37 13 23915126 23915126 + Silent SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:23915126A>G uc001uon.2 - 10 3478 c.2889T>C c.(2887-2889)TCT>TCC p.S963S SACS_uc001uoo.2_Silent_p.S816S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 963 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTACTGAAATAGAAAGTCGCA 0.363 NaN 0 0 0 0.00333 0 25 91 KBTBD6 89890 broad.mit.edu 37 13 41705450 41705450 + Nonsense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:41705450G>A uc001uxu.1 - 1 1487 c.1198C>T c.(1198-1200)CAG>TAG p.Q400* KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Nonsense_Mutation_p.Q334*|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 400 Kelch 1. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GTCCTGGGCTGAGCAGCTAGA 0.502 NaN 0 0 0 0.004289 0 34 156 NEK5 341676 broad.mit.edu 37 13 52667254 52667254 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:52667254G>C uc001vge.2 - 13 1284 c.1144C>G c.(1144-1146)CAA>GAA p.Q382E NEK5_uc001vgf.2_Missense_Mutation_p.Q382E NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 382 ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GTATTTTCTTGAGGAATAGGG 0.418 NaN 0 0 0 0.009718 0 44 126 KLF5 688 broad.mit.edu 37 13 73636553 73636553 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:73636553G>A uc001vje.2 + 2 1140 c.816G>A c.(814-816)CAG>CAA p.Q272Q KLF5_uc001vjd.2_Silent_p.Q181Q NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 272 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CTGTTCCGCAGACTGCAGTGA 0.502 NaN 0 0 0 0.008871 0 21 93 MYCBP2 23077 broad.mit.edu 37 13 77825292 77825292 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:77825292G>C uc001vkf.2 - 16 2352 c.2261C>G c.(2260-2262)CCC>CGC p.P754R MYCBP2_uc010aev.2_Missense_Mutation_p.P158R NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 754 Cys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTACCCTCCGGGGACTCTGTC 0.443 NaN 0 0 0 0.00308 0 8 65 SLITRK6 84189 broad.mit.edu 37 13 86369424 86369424 + Missense_Mutation SNP A A C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:86369424A>C uc001vll.1 - 2 1679 c.1220T>G c.(1219-1221)TTT>TGT p.F407C SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 407 Extracellular (Potential).|LRR 7. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TAGGTTCATAAACGATCCTTC 0.338 NaN 0 0 0 0.008361 0 30 101 GPR180 160897 broad.mit.edu 37 13 95273419 95273419 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:95273419A>G uc001vly.2 + 6 902 c.824A>G c.(823-825)CAA>CGA p.Q275R GPR180_uc001vlz.2_Missense_Mutation_p.Q174R|GPR180_uc010afi.2_Missense_Mutation_p.Q36R NM_180989 NP_851320 Q86V85 GP180_HUMAN G protein-coupled receptor 180 precursor 275 integral to membrane breast(1) 1 all_neural(89;0.0684)|Medulloblastoma(90;0.163) AAGAAGTCTCAAAGCAGACCT 0.423 NaN 0 0 0 0.000602 0 5 188 ZIC2 7546 broad.mit.edu 37 13 100635308 100635308 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:100635308G>C uc001von.2 + 1 990 c.990G>C c.(988-990)GAG>GAC p.E330D NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 330 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACACAGGCGAGAAACCCTTCC 0.607 NaN 0 0 0 0.000602 0 5 114 OR6S1 341799 broad.mit.edu 37 14 21108987 21108987 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:21108987C>G uc001vxv.1 - 1 864 c.864G>C c.(862-864)TTG>TTC p.L288F NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TGAATGGATTCAACAGTGGTG 0.443 NaN 0 0 0 0.001168 0 6 238 GZMB 3002 broad.mit.edu 37 14 25101100 25101100 + Silent SNP G G A rs149659869 by1000genomes TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:25101100G>A uc001wps.2 - 4 630 c.564C>T c.(562-564)TGC>TGT p.C188C GZMB_uc010ama.2_Silent_p.C176C|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor 188 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) GGTCCCCCACGCACAACTCAA 0.458 NaN 0 0 0 0.001168 0 6 244 INSM2 84684 broad.mit.edu 37 14 36003540 36003540 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:36003540C>G uc001wth.1 + 1 293 c.82C>G c.(82-84)CTG>GTG p.L28V NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) TGTCTTCCCTCTGCTGGGGCC 0.687 NaN 0 0 0 0.003163 0 14 32 GNG2 54331 broad.mit.edu 37 14 52433361 52433361 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:52433361G>C uc001wzi.2 + 4 701 c.172G>C c.(172-174)GAA>CAA p.E58Q GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.E58Q NM_053064 NP_444292 P59768 GBG2_HUMAN guanine nucleotide binding protein (G protein), 58 cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission heterotrimeric G-protein complex protein binding|signal transducer activity 0 all_epithelial(31;0.0659)|Breast(41;0.0684) Halothane(DB01159) TCCGGCTTCAGAAAACCCGTT 0.522 NaN 0 0 0 0.00361 0 75 112 GPR135 64582 broad.mit.edu 37 14 59930507 59930507 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:59930507C>T uc010apj.2 - 1 1553 c.1438G>A c.(1438-1440)GCA>ACA p.A480T GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 480 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) TTGGTCACTGCCGTCACCGGC 0.547 NaN 0 0 0 0.00308 0 7 20 VASH1 22846 broad.mit.edu 37 14 77242312 77242313 + Missense_Mutation DNP GC GC AT TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:77242312_77242313GC>AT uc001xst.2 + 5 1538_1539 c.608_609GC>AT c.(607-609)CGC>CAT p.R203H NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 203 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) AACTACTTCCGCCACATCGTGC 0.629 NaN 0 0 0 0.004672 0 3 7 BRF1 2972 broad.mit.edu 37 14 105707692 105707692 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:105707692C>T uc001yqp.2 - 6 967 c.604G>A c.(604-606)GAG>AAG p.E202K BRF1_uc010tyo.1_Missense_Mutation_p.E87K|BRF1_uc010typ.1_Missense_Mutation_p.E87K|BRF1_uc001yql.2_5'UTR|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Missense_Mutation_p.E175K|BRF1_uc001yqn.2_RNA|BRF1_uc010axh.1_RNA|BRF1_uc010axj.1_Intron NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 202 2. positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) ATGGACACCTCGTGGTTCTTC 0.637 NaN 0 0 0 0.004007 0 16 41 CYFIP1 23191 broad.mit.edu 37 15 22980128 22980128 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:22980128C>G uc001yus.2 + 23 2730 c.2626C>G c.(2626-2628)CAA>GAA p.Q876E CYFIP1_uc001yut.2_Missense_Mutation_p.Q876E|CYFIP1_uc010aya.1_Missense_Mutation_p.Q904E|CYFIP1_uc001yuu.2_Missense_Mutation_p.Q445E|CYFIP1_uc001yuv.2_Missense_Mutation_p.Q70E NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 876 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TCAGGAATTTCAAAGAGATAA 0.358 NaN 0 0 0 0.00245 0 14 151 BAHD1 22893 broad.mit.edu 37 15 40758317 40758317 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:40758317G>C uc001zlu.2 + 7 2402 c.2331G>C c.(2329-2331)AAG>AAC p.K777N BAHD1_uc001zlt.2_Missense_Mutation_p.K776N|BAHD1_uc010bbp.1_Missense_Mutation_p.K773N|BAHD1_uc001zlv.2_Missense_Mutation_p.K774N NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 777 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GCATCCTTAAGAACCCCCAGT 0.627 NaN 0 0 0 0.010504 0 15 43 RPAP1 26015 broad.mit.edu 37 15 41817271 41817271 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:41817271C>T uc001zod.2 - 15 2117 c.1993G>A c.(1993-1995)GAG>AAG p.E665K RPAP1_uc001zoc.2_5'Flank NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 665 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TCAGCTTCCTCTGGGGGCAAG 0.617 NaN 0 0 0 0.004289 0 34 16 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42138489 42138489 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:42138489G>T uc010bco.2 + 17 1790 c.1689G>T c.(1687-1689)TGG>TGT p.W563C JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.W264C|JMJD7-PLA2G4B_uc001zor.1_3'UTR NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 563 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 TTCTGACGTGGCGTCCACTGG 0.522 NaN 1 0 0.00198382 0.001984 0.00203743 6 89 UBR1 197131 broad.mit.edu 37 15 43339472 43339472 + Nonsense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:43339472G>A uc001zqq.2 - 14 1621 c.1555C>T c.(1555-1557)CGA>TGA p.R519* UBR1_uc010udk.1_Nonsense_Mutation_p.R519* NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 519 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACCTGTCTTCGGATTTCTTCC 0.423 NaN 0 0 0 0.006214 0 9 234 UNC13C 440279 broad.mit.edu 37 15 54435219 54435219 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:54435219C>T uc002ack.2 + 2 2988 c.2988C>T c.(2986-2988)AGC>AGT p.S996S NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 996 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTTCAGATAGCAGTTCTGTGG 0.313 NaN 0 0 0 0.001368 0 10 83 DIS3L 115752 broad.mit.edu 37 15 66621672 66621672 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:66621672A>G uc010ujm.1 + 14 2485 c.2470A>G c.(2470-2472)AAG>GAG p.K824E DIS3L_uc002app.2_Missense_Mutation_p.K741E|DIS3L_uc010bho.2_Missense_Mutation_p.K690E NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 824 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 AATGGAAATTAAGGGAAATCT 0.333 NaN 0 0 0 0.001984 0 7 64 CCDC33 80125 broad.mit.edu 37 15 74573023 74573023 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:74573023C>G uc002axo.2 + 9 1298 c.904C>G c.(904-906)CCG>GCG p.P302A CCDC33_uc002axp.2_Missense_Mutation_p.P124A NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 505 protein binding ovary(3)|skin(2) 5 AGGCAGCCAGCCGTGGACCCT 0.582 NaN 0 0 0 0.001984 0 7 67 LMAN1L 79748 broad.mit.edu 37 15 75116785 75116785 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:75116785C>G uc002ayt.1 + 13 1419 c.1417C>G c.(1417-1419)CAG>GAG p.Q473E LMAN1L_uc010bke.1_Missense_Mutation_p.Q461E|CPLX3_uc002ayu.1_5'Flank NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 473 Helical; (Potential). ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 CCTCCTCATTCAGACTGTAGG 0.597 NaN 0 0 0 0.00308 0 7 122 TMC3 342125 broad.mit.edu 37 15 81628953 81628953 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:81628953C>G uc002bgo.1 - 20 2200 c.2200G>C c.(2200-2202)GAA>CAA p.E734Q TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 734 Cytoplasmic (Potential). E -> EGK (in Ref. 1; AAP78778). integral to membrane ovary(1)|liver(1) 2 TACTTACCTTCTACCATCTGG 0.214 NaN 0 0 0 0.001984 0 7 159 KIF7 374654 broad.mit.edu 37 15 90172769 90172769 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:90172769C>G uc002bof.2 - 17 3431 c.3354G>C c.(3352-3354)CAG>CAC p.Q1118H KIF7_uc010upw.1_Missense_Mutation_p.Q604H|C15orf42_uc010upv.1_RNA NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN kinesin family member 7 1118 Potential. microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding ovary(2)|lung(1) 3 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) AGAAGGCAATCTGCTGCTGGT 0.622 NaN 0 0 0 0.00499 0 13 61 WDR24 84219 broad.mit.edu 37 16 737292 737292 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:737292C>T uc002ciz.1 - 3 1544 c.784G>A c.(784-786)GAG>AAG p.E262K JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank NM_032259 NP_115635 Q96S15 WDR24_HUMAN WD repeat domain 24 348 WD 4. ovary(1)|central_nervous_system(1) 2 Hepatocellular(780;0.0218) TGGCGGCACTCTGGCCGCCAC 0.617 NaN 0 0 0 0.001984 0 4 15 ZC3H7A 29066 broad.mit.edu 37 16 11855265 11855265 + Silent SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:11855265A>G uc002dbk.2 - 18 2514 c.2316T>C c.(2314-2316)TTT>TTC p.F772F ZC3H7A_uc002dbi.2_5'Flank|ZC3H7A_uc002dbj.2_Intron|ZC3H7A_uc002dbl.2_Silent_p.F772F|ZC3H7A_uc002dbm.1_Silent_p.F682F NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 772 C3H1-type 2. nucleus nucleic acid binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 TATGTACATCAAACTGTAAAG 0.363 NaN 0 0 0 0.00333 0 22 197 C16orf62 57020 broad.mit.edu 37 16 19693640 19693640 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:19693640C>T uc002dgn.1 + 28 2467 c.2455C>T c.(2455-2457)CGC>TGC p.R819C C16orf62_uc002dgo.1_Missense_Mutation_p.R726C|C16orf62_uc002dgp.1_Missense_Mutation_p.R568C NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 819 integral to membrane ovary(1) 1 TGAGAAAATCCGCATCTACAC 0.532 NaN 0 0 0 0.004482 0 8 88 ZNF319 57567 broad.mit.edu 37 16 58030577 58030577 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:58030577C>G uc002emx.1 - 2 2216 c.1593G>C c.(1591-1593)AAG>AAC p.K531N NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 531 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGCCCTGGTGCTTGTTGAGAT 0.637 NaN 0 0 0 0.009096 0 4 13 CMTM2 146225 broad.mit.edu 37 16 66621981 66621981 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:66621981G>C uc002ept.2 + 4 866 c.706G>C c.(706-708)GAA>CAA p.E236Q CMTM2_uc010cdu.2_Missense_Mutation_p.E183Q NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN chemokine-like factor superfamily 2 236 chemotaxis extracellular space|integral to membrane cytokine activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) CAAGCCACCAGAACCTGGCAA 0.532 NaN 0 0 0 0.006214 0 4 75 NAE1 8883 broad.mit.edu 37 16 66847711 66847711 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:66847711G>C uc002eqf.2 - 12 956 c.879C>G c.(877-879)CGC>CGG p.R293R NAE1_uc002eqe.2_Silent_p.R287R|NAE1_uc002eqg.2_Silent_p.R204R|NAE1_uc010cdv.2_Silent_p.R296R NM_003905 NP_003896 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 isoform a 293 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TATTTATGCAGCGATCATCAT 0.308 NaN 0 0 0 0.000978 0 11 136 FHOD1 29109 broad.mit.edu 37 16 67264128 67264128 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:67264128C>G uc002esl.2 - 20 3167 c.3055G>C c.(3055-3057)GAG>CAG p.E1019Q FHOD1_uc002esk.2_Missense_Mutation_p.E78Q|FHOD1_uc010ced.2_Missense_Mutation_p.E826Q NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1019 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GAGAACTTCTCTGTCTGGAGA 0.592 NaN 0 0 0 0.001984 0 6 74 FAM65A 79567 broad.mit.edu 37 16 67578917 67578917 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:67578917G>T uc010vjp.1 + 17 3084 c.2988G>T c.(2986-2988)GAG>GAT p.E996D FAM65A_uc002eth.2_Missense_Mutation_p.E976D|FAM65A_uc010cej.2_Missense_Mutation_p.E979D|FAM65A_uc010vjq.1_Missense_Mutation_p.E990D|FAM65A_uc002etk.2_Missense_Mutation_p.E974D NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 980 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) AGTGCACAGAGAGACTCAGCT 0.642 NaN 1 0 2.27111e-07 0.001368 2.41558e-07 10 272 PARD6A 50855 broad.mit.edu 37 16 67695398 67695398 + Nonsense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:67695398C>A uc002ett.2 + 2 195 c.104C>A c.(103-105)TCG>TAG p.S35* ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Nonsense_Mutation_p.S35*|PARD6A_uc002etu.2_5'UTR NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN par-6 partitioning defective 6 homolog alpha 35 Interaction with PRKCI and PRKCZ.|OPR. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCTCGCGCTTCGGTGAGCGGC 0.657 NaN 1 0 1.15919e-05 0.008871 1.21744e-05 18 78 PARD6A 50855 broad.mit.edu 37 16 67696109 67696109 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:67696109G>C uc002ett.2 + 3 691 c.600G>C c.(598-600)GGG>GGC p.G200G ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.G199G|PARD6A_uc002etu.2_Silent_p.G24G NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN par-6 partitioning defective 6 homolog alpha 200 PDZ.|Interaction with PARD3 and CDC42 (By similarity). cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TGGTACGTGGGGGTCTGGCTG 0.612 NaN 0 0 0 0.001368 0 9 83 MARVELD3 91862 broad.mit.edu 37 16 71668136 71668136 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:71668136C>T uc002fat.2 + 3 699 c.636C>T c.(634-636)ATC>ATT p.I212I MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron NM_052858 NP_443090 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 2 212 MARVEL.|Cytoplasmic (Potential). integral to membrane skin(1) 1 Ovarian(137;0.125) ACTTGCTGATCCTGGCCTGCA 0.527 NaN 0 0 0 0.00361 0 178 99 MBTPS1 8720 broad.mit.edu 37 16 84135448 84135448 + Translation_Start_Site SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:84135448G>C uc002fhi.2 - 2 443 c.-59C>G c.(-61--57)ATCAA>ATGAA NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 TTTTCTTCTTGATTAAAAGTG 0.348 NaN 0 0 0 0.001984 0 7 35 ACSF3 197322 broad.mit.edu 37 16 89211739 89211739 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:89211739C>G uc002fmp.2 + 9 1771 c.1431C>G c.(1429-1431)ATC>ATG p.I477M ACSF3_uc010cig.1_Missense_Mutation_p.I477M|ACSF3_uc010cih.1_Missense_Mutation_p.I212M|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Missense_Mutation_p.I212M NM_174917 NP_777577 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 precursor 477 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0281) TGGACATCATCAAGACTGGAG 0.622 NaN 0 0 0 0.00308 0 6 22 ANKFY1 51479 broad.mit.edu 37 17 4086740 4086740 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:4086740G>C uc002fxq.1 - 14 1943 c.1905C>G c.(1903-1905)AGC>AGG p.S635R ANKFY1_uc002fxn.2_Missense_Mutation_p.S677R|ANKFY1_uc002fxo.2_Missense_Mutation_p.S635R|ANKFY1_uc002fxp.2_Missense_Mutation_p.S634R|ANKFY1_uc010ckp.2_Missense_Mutation_p.S576R NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 635 ANK 9. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 GTGCGCTCTTGCTGTCCTGCC 0.557 NaN 0 0 0 0.008291 0 10 50 ZNF594 84622 broad.mit.edu 37 17 5086349 5086349 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:5086349C>T uc010cla.1 - 2 1359 c.1203G>A c.(1201-1203)GAG>GAA p.E401E NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 CATATGGTTTCTCTCCTGTAT 0.408 NaN 0 0 0 0.00499 0 17 303 TP53 7157 broad.mit.edu 37 17 7577121 7577122 + Missense_Mutation DNP GC GC TT rs121913343 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 GC TT GC GC Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:7577121_7577122GC>TT uc002gim.2 - 8 1010_1011 c.816_817GC>AA c.(814-819)GTGCGT>GTAAGT p.R273S TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141S|TP53_uc010cng.1_Missense_Mutation_p.R141S|TP53_uc002gii.1_Missense_Mutation_p.R141S|TP53_uc010cnh.1_Missense_Mutation_p.R273S|TP53_uc010cni.1_Missense_Mutation_p.R273S|TP53_uc002gij.2_Missense_Mutation_p.R273S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.V272V(3)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273R(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAGC 0.54 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.004672 0 7 10 CHD3 1107 broad.mit.edu 37 17 7806657 7806657 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:7806657C>T uc002gje.2 + 23 3713 c.3563C>T c.(3562-3564)GCG>GTG p.A1188V CHD3_uc002gjd.2_Missense_Mutation_p.A1247V|CHD3_uc002gjf.2_Missense_Mutation_p.A1188V|CHD3_uc002gjh.2_5'Flank|SCARNA21_uc002gji.1_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1188 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GTGACTCGCGCGTCAGTGGAA 0.582 NaN 0 0 0 0.000602 0 4 54 MYH4 4622 broad.mit.edu 37 17 10351974 10351974 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:10351974G>C uc002gmn.2 - 32 4603 c.4492C>G c.(4492-4494)CAT>GAT p.H1498D uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1498 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GTTTCAAGATGATCCAGGGAT 0.428 NaN 0 0 0 0.006214 0 6 150 AKAP10 11216 broad.mit.edu 37 17 19861601 19861601 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:19861601A>T uc002gwo.2 - 4 740 c.603T>A c.(601-603)GAT>GAA p.D201E AKAP10_uc002gwp.1_Missense_Mutation_p.D201E|AKAP10_uc010cqw.1_Missense_Mutation_p.D201E|AKAP10_uc010vze.1_Missense_Mutation_p.D122E NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 201 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TATCAAGAGAATCAGTTAAAA 0.408 NaN 0 0 0 0.001368 0 12 37 ZNF207 7756 broad.mit.edu 37 17 30678830 30678830 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:30678830G>A uc002hhh.3 + 2 215 c.67G>A c.(67-69)GAG>AAG p.E23K ZNF207_uc002hhj.3_Missense_Mutation_p.E23K|ZNF207_uc002hhi.3_Missense_Mutation_p.E23K|ZNF207_uc010csz.2_Missense_Mutation_p.E26K|ZNF207_uc002hhk.1_Missense_Mutation_p.E23K NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 23 C2H2-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TTTTGATGATGAGAAGATCCT 0.338 NaN 0 0 0 0.007413 0 18 616 MYO1D 4642 broad.mit.edu 37 17 31092057 31092057 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:31092057C>T uc002hho.1 - 8 886 c.874G>A c.(874-876)GAG>AAG p.E292K MYO1D_uc002hhp.1_Missense_Mutation_p.E292K|MYO1D_uc010wcb.1_Missense_Mutation_p.E292K NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 292 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) TTGCCATTCTCAATAAGAGGC 0.368 NaN 0 0 0 0.00308 0 7 350 EZH1 2145 broad.mit.edu 37 17 40874816 40874816 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:40874816C>G uc002iaz.2 - 6 629 c.484G>C c.(484-486)GAA>CAA p.E162Q EZH1_uc002iba.2_Missense_Mutation_p.E153Q|EZH1_uc010wgt.1_Missense_Mutation_p.E92Q|EZH1_uc010wgu.1_Missense_Mutation_p.E168Q|EZH1_uc010wgv.1_Missense_Mutation_p.E122Q|EZH1_uc010wgw.1_Intron|EZH1_uc010cyp.2_Intron|EZH1_uc010cyq.2_Missense_Mutation_p.E79Q|EZH1_uc010cys.2_Missense_Mutation_p.E113Q|EZH1_uc010cyo.1_5'UTR|EZH1_uc010cyr.1_5'Flank NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 162 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CCACTACCTTCTTCACCATGG 0.403 NaN 0 0 0 0.004672 0 3 95 EPN3 55040 broad.mit.edu 37 17 48618412 48618412 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:48618412C>T uc002ira.3 + 7 1673 c.1238C>T c.(1237-1239)TCC>TTC p.S413F SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.S441F|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.S386F NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 413 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CTGGAGACCTCCGACACACCT 0.637 NaN 0 0 0 0.00499 0 15 16 APPBP2 10513 broad.mit.edu 37 17 58531675 58531675 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:58531675C>T uc002iys.1 - 11 1614 c.1326G>A c.(1324-1326)ATG>ATA p.M442I APPBP2_uc010ddl.1_Missense_Mutation_p.M371I NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 442 TPR 6. intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TAAATTTTCTCATTGACTGAT 0.294 NaN 0 0 0 0.001168 0 5 139 BRIP1 83990 broad.mit.edu 37 17 59763273 59763273 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:59763273G>A uc002izk.1 - 19 2970 c.2829C>T c.(2827-2829)GTC>GTT p.V943V BRIP1_uc002izl.1_Silent_p.V324V NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 943 Interaction with BRCA1. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 GTAGTTCCTGGACACATATCT 0.363 NaN F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.00361 0 44 323 BRIP1 83990 broad.mit.edu 37 17 59853848 59853848 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:59853848C>G uc002izk.1 - 14 2152 c.2011G>C c.(2011-2013)GAG>CAG p.E671Q BRIP1_uc002izl.1_Missense_Mutation_p.E52Q NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 671 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 TCTTGGAACTCAAATGTTTCA 0.418 NaN F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.00308 0 8 192 MED13 9969 broad.mit.edu 37 17 60023934 60023934 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:60023934G>C uc002izo.2 - 30 6497 c.6420C>G c.(6418-6420)CTC>CTG p.L2140L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2140 androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TTAGCCAGGAGAGTGCATTGT 0.373 NaN 0 0 0 0.001984 0 7 85 AXIN2 8313 broad.mit.edu 37 17 63532561 63532561 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:63532561G>T uc002jfi.2 - 8 2307 c.2018C>A c.(2017-2019)ACC>AAC p.T673N AXIN2_uc002jfh.2_Missense_Mutation_p.T608N NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 673 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 GGCACGGGGGGTGGTGCGGGG 0.682 NaN Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 1 0 0.000274275 0.004482 0.000283079 8 31 RNF157 114804 broad.mit.edu 37 17 74152378 74152378 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:74152378C>T uc002jqz.2 - 14 1507 c.1438G>A c.(1438-1440)GAG>AAG p.E480K RNF157_uc002jra.2_Missense_Mutation_p.E480K NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 480 Ser-rich. zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) GTGAGATTCTCACTTTCTGGA 0.562 NaN 0 0 0 0.000978 0 10 60 SLC25A10 1468 broad.mit.edu 37 17 79674028 79674028 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:79674028C>G uc010wut.1 + 4 563 c.438C>G c.(436-438)ATC>ATG p.I146M MRPL12_uc002kbh.1_Missense_Mutation_p.I146M NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; Error:Variant_position_missing_in_Q9UBX3_after_alignment gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TGAAGCTGATCAAGGAAATCA 0.582 NaN 0 0 0 0.000602 0 5 54 C17orf62 79415 broad.mit.edu 37 17 80403819 80403819 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:80403819C>G uc002kez.2 - 4 267 c.219G>C c.(217-219)AAG>AAC p.K73N C17orf62_uc002kex.2_5'Flank|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.K73N|C17orf62_uc010dir.2_Missense_Mutation_p.K73N|C17orf62_uc002kfb.3_Missense_Mutation_p.K73N|C17orf62_uc002kfc.3_Missense_Mutation_p.K59N|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR|C17orf62_uc010dis.1_Missense_Mutation_p.K73N NM_001100407 NP_001093877 Q9BQA9 CQ062_HUMAN hypothetical protein LOC79415 isoform a 73 integral to membrane protein binding 0 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TCCCTGTGCTCTTGTCGAAGA 0.607 NaN 0 0 0 0.004672 0 3 34 NDC80 10403 broad.mit.edu 37 18 2599084 2599084 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr18:2599084G>C uc002kli.2 + 12 1470 c.1288G>C c.(1288-1290)GAG>CAG p.E430Q NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 430 Interaction with the N-terminus of CDCA1.|Interaction with PSMC2 and SMC1A.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 TAAAGGTGCTGAGAATTCCAA 0.353 NaN 0 0 0 0.000978 0 12 78 MALT1 10892 broad.mit.edu 37 18 56402448 56402448 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr18:56402448A>T uc002lhm.1 + 13 1748 c.1490A>T c.(1489-1491)GAA>GTA p.E497V MALT1_uc002lhn.1_Missense_Mutation_p.E486V NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 497 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 CAAGGAGCAGAAGCTTTTGAA 0.184 NaN T BIRC3 MALT 0 0 0 0.002299 0 23 33 ZNF236 7776 broad.mit.edu 37 18 74593443 74593443 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr18:74593443A>G uc002lmi.2 + 9 1584 c.1386A>G c.(1384-1386)ATA>ATG p.I462M ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.I462M NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 462 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AAAAAATGATAAAGAAGAAGT 0.383 NaN 0 0 0 0.008871 0 20 16 CHAF1A 10036 broad.mit.edu 37 19 4409533 4409533 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:4409533T>G uc002mal.2 + 3 837 c.737T>G c.(736-738)TTG>TGG p.L246W NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 246 PxVxL motif.|Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGACATCTTGGCTGTGAGA 0.562 NaN Chromatin_Structure 0 0 0 0.00308 0 7 32 FEM1A 55527 broad.mit.edu 37 19 4793524 4793524 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:4793524A>G uc002mbf.2 + 1 1797 c.1658A>G c.(1657-1659)TAT>TGT p.Y553C uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 553 ANK 8. regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GTGGGCCGCTATCCCGTGGGC 0.632 NaN 0 0 0 0.004007 0 16 28 ACTL9 284382 broad.mit.edu 37 19 8808755 8808755 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:8808755G>C uc002mkl.2 - 1 418 c.297C>G c.(295-297)GGC>GGG p.G99G NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 99 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 GGGCTGCCTCGCCGATGAACG 0.706 NaN 0 0 0 0.004672 0 3 18 KRI1 65095 broad.mit.edu 37 19 10671688 10671688 + Silent SNP C C T rs140755508 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:10671688C>T uc002moy.1 - 8 681 c.672G>A c.(670-672)CTG>CTA p.L224L KRI1_uc002mow.1_5'Flank|KRI1_uc002mox.1_Silent_p.L220L NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 224 Glu-rich. ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCAGTTCCTTCAGGGAATCTG 0.547 NaN 0 0 0 0.002299 0 21 42 PDE4C 5143 broad.mit.edu 37 19 18330071 18330071 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:18330071C>G uc010xqc.1 - 8 1419 c.939G>C c.(937-939)CAG>CAC p.Q313H PDE4C_uc002nik.3_Missense_Mutation_p.Q313H|PDE4C_uc002nil.3_Missense_Mutation_p.Q313H|PDE4C_uc002nif.3_Missense_Mutation_p.Q82H|PDE4C_uc002nig.3_Missense_Mutation_p.Q83H|PDE4C_uc002nih.3_Missense_Mutation_p.Q83H|PDE4C_uc010ebk.2_Missense_Mutation_p.Q207H|PDE4C_uc002nii.3_Missense_Mutation_p.Q281H|PDE4C_uc010ebl.2_Missense_Mutation_p.Q27H|PDE4C_uc010xqd.1_Missense_Mutation_p.Q82H NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 313 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) CCTGGTCAGTCTGGACCCCAA 0.622 NaN 0 0 0 0.004672 0 3 56 RYR1 6261 broad.mit.edu 37 19 39063871 39063871 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:39063871G>C uc002oit.2 + 96 14183 c.14053G>C c.(14053-14055)GAT>CAT p.D4685H RYR1_uc002oiu.2_Missense_Mutation_p.D4680H NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4685 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTGGAGTTTGATGGCCTGTA 0.617 NaN 0 0 0 0.000602 0 5 92 EID2 163126 broad.mit.edu 37 19 40030087 40030087 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40030087C>T uc002oma.2 - 1 752 c.633G>A c.(631-633)ACG>ACA p.T211T NM_153232 NP_694964 Q8N6I1 EID2_HUMAN CREBBP/EP300 inhibitor 2 211 cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) TCAGAGCTATCGTAAAGGTTA 0.448 NaN 0 0 0 0.001168 0 6 230 LGALS13 29124 broad.mit.edu 37 19 40095312 40095312 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40095312C>G uc002omb.2 + 2 126 c.86C>G c.(85-87)TCT>TGT p.S29C NM_013268 NP_037400 Q9UHV8 PP13_HUMAN galectin-13 29 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding ovary(1) 1 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CCAATCCACTCTTTTATGTGA 0.453 NaN 0 0 0 0.00361 0 106 140 ZNF780A 284323 broad.mit.edu 37 19 40582009 40582009 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40582009C>G uc002omy.2 - 6 565 c.340G>C c.(340-342)GAG>CAG p.E114Q ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E114Q|ZNF780A_uc010xvh.1_Missense_Mutation_p.E115Q NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TAAAAGGCCTCAATGCCAAGA 0.328 NaN 0 0 0 0.000978 0 11 245 C19orf47 126526 broad.mit.edu 37 19 40842021 40842021 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40842021C>G uc002oni.3 - 4 330 c.329G>C c.(328-330)CGT>CCT p.R110P C19orf47_uc002ong.2_5'UTR|C19orf47_uc002onh.2_Missense_Mutation_p.R43P NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 110 ovary(1)|skin(1) 2 Lung(22;0.000636) ACCCACCTGACGGTGCACCAC 0.547 NaN 0 0 0 0.004672 0 3 89 HIPK4 147746 broad.mit.edu 37 19 40886914 40886914 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40886914C>T uc002onp.2 - 3 1269 c.984G>A c.(982-984)CTG>CTA p.L328L NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 328 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) ACTCCCAGGTCAGCATGCGCT 0.647 NaN 0 0 0 0.009096 0 4 109 ZNF233 353355 broad.mit.edu 37 19 44778142 44778142 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:44778142G>A uc002oyz.1 + 5 1456 c.1329G>A c.(1327-1329)CAG>CAA p.Q443Q ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Silent_p.Q258Q NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) GTCTTCACCAGAGAGTTCACA 0.428 NaN 0 0 0 0.004878 0 36 89 EML2 24139 broad.mit.edu 37 19 46117878 46117878 + Missense_Mutation SNP C C G rs35344004 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:46117878C>G uc002pcn.2 - 17 1713 c.1678G>C c.(1678-1680)GGG>CGG p.G560R EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.G444R|EML2_uc010xxl.1_Missense_Mutation_p.G707R|EML2_uc010xxm.1_Missense_Mutation_p.G761R NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 560 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) ACCCCAAACCCTAGGACACAA 0.448 NaN 0 0 0 0.002522 0 42 155 HRC 3270 broad.mit.edu 37 19 49657670 49657670 + Silent SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:49657670G>T uc002pmv.2 - 1 1012 c.825C>A c.(823-825)GGC>GGA p.G275G NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 275 2-5.|6 X approximate tandem repeats.|4 X tandem repeats, acidic. muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CAATCCCGTGGCCTTGGTGCC 0.373 NaN 1 0 6.12954e-19 0.004656 6.79614e-19 27 44 TRPM4 54795 broad.mit.edu 37 19 49692258 49692258 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:49692258C>G uc002pmw.2 + 14 2001 c.1929C>G c.(1927-1929)CTC>CTG p.L643L TRPM4_uc010emu.2_Silent_p.L643L|TRPM4_uc010yak.1_Silent_p.L107L|TRPM4_uc002pmx.2_Silent_p.L469L|TRPM4_uc010emv.2_Silent_p.L528L|TRPM4_uc010yal.1_Silent_p.L289L|TRPM4_uc002pmy.2_5'UTR NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 643 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GCCTCCTCCTCCGTCGCTGCC 0.617 NaN 0 0 0 0.00361 0 43 83 ZNF616 90317 broad.mit.edu 37 19 52620235 52620235 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:52620235T>C uc002pym.2 - 4 465 c.182A>G c.(181-183)GAG>GGG p.E61G ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ATTACTGTTCTCTGTTGGTGG 0.323 NaN 0 0 0 0.003163 0 14 232 ZNF816A 125893 broad.mit.edu 37 19 53454831 53454831 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:53454831G>C uc002qal.1 - 5 498 c.197C>G c.(196-198)TCT>TGT p.S66C ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.S50C NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) GGATTTTAAAGAGCTATCTAA 0.333 NaN 0 0 0 0.006999 0 41 86 LILRA5 353514 broad.mit.edu 37 19 54823808 54823808 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:54823808G>A uc002qfe.2 - 2 207 c.87C>T c.(85-87)CTC>CTT p.L29L LILRA5_uc002qff.2_Silent_p.L29L|LILRA5_uc010yev.1_Silent_p.L29L|LILRA5_uc010yew.1_Silent_p.L29L|LILRA5_uc002qfh.1_Silent_p.L29L|LILRA5_uc002qfg.1_Silent_p.L29L NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 29 innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAATCTCACCGAGGCAGAGCA 0.602 NaN 0 0 0 0.00333 0 24 19 NLRP7 199713 broad.mit.edu 37 19 55451137 55451137 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:55451137C>T uc002qih.3 - 4 1126 c.1050G>A c.(1048-1050)ATG>ATA p.M350I NLRP7_uc002qig.3_Missense_Mutation_p.M350I|NLRP7_uc002qii.3_Missense_Mutation_p.M350I|NLRP7_uc010esk.2_Missense_Mutation_p.M350I|NLRP7_uc010esl.2_Missense_Mutation_p.M378I NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 350 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CGTTGCTCCTCATTAGCTCAA 0.612 NaN 0 0 0 0.009096 0 4 48 TPO 7173 broad.mit.edu 37 2 1480894 1480894 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:1480894T>A uc002qww.2 + 8 947 c.856T>A c.(856-858)TGT>AGT p.C286S TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.C286S|TPO_uc002qwr.2_Missense_Mutation_p.C286S|TPO_uc002qwx.2_Missense_Mutation_p.C286S|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.C286S NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 286 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGGCACCGCCTGTCTGCCCTT 0.692 NaN 0 0 0 0.001984 0 4 7 LPIN1 23175 broad.mit.edu 37 2 11944642 11944642 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:11944642C>G uc010yjn.1 + 16 2273 c.1999C>G c.(1999-2001)CTG>GTG p.L667V LPIN1_uc010yjm.1_Missense_Mutation_p.L752V|LPIN1_uc002rbt.2_Missense_Mutation_p.L667V|LPIN1_uc010yjo.1_Missense_Mutation_p.L168V NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 667 C-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CACCATCTATCTGTGGAACTG 0.478 NaN 0 0 0 0.000978 0 11 103 NCOA1 8648 broad.mit.edu 37 2 24929441 24929441 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:24929441C>T uc002rfk.2 + 11 1360 c.1102C>T c.(1102-1104)CAC>TAC p.H368Y NCOA1_uc010eye.2_Missense_Mutation_p.H368Y|NCOA1_uc002rfi.2_Missense_Mutation_p.H217Y|NCOA1_uc002rfj.2_Missense_Mutation_p.H368Y|NCOA1_uc002rfl.2_Missense_Mutation_p.H368Y NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 368 Interaction with STAT3. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCTAGGGAGCACAGTGGGCT 0.378 NaN T PAX3 alveolar rhadomyosarcoma 0 0 0 0.001168 0 4 63 KCNK3 3777 broad.mit.edu 37 2 26950989 26950989 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:26950989C>T uc002rhn.2 + 2 901 c.738C>T c.(736-738)TTC>TTT p.F246F NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 246 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTGCGCTTCATGACCATGA 0.697 NaN 0 0 0 0.001984 0 6 4 C2orf63 130162 broad.mit.edu 37 2 55407837 55407837 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:55407837G>C uc002ryi.2 - 11 1539 c.1193C>G c.(1192-1194)TCT>TGT p.S398C C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Missense_Mutation_p.S276C NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 398 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) AGCCTCCTCAGAAAATGTCAG 0.418 NaN 0 0 0 0.006122 0 15 73 CCDC142 84865 broad.mit.edu 37 2 74709901 74709901 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:74709901G>C uc002slr.2 - 1 457 c.64C>G c.(64-66)CAA>GAA p.Q22E TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.Q22E|CCDC142_uc002slp.2_Missense_Mutation_p.Q22E NM_032779 NP_116168 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 22 central_nervous_system(1) 1 CCCCCGGGTTGCGCCCTCAGC 0.672 NaN 0 0 0 0.001984 0 7 63 C2orf89 129293 broad.mit.edu 37 2 85097589 85097589 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:85097589G>A uc010ysl.1 - 2 518 c.429C>T c.(427-429)CGC>CGT p.R143R C2orf89_uc002sou.3_Silent_p.R143R|C2orf89_uc010fgc.1_Silent_p.R143R NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 143 Extracellular (Potential). integral to membrane ovary(1) 1 GCCCCTTGCCGCGCTGGTCTG 0.582 NaN 0 0 0 0.005443 0 27 49 C2orf89 129293 broad.mit.edu 37 2 85097649 85097649 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:85097649G>A uc010ysl.1 - 2 458 c.369C>T c.(367-369)CTC>CTT p.L123L C2orf89_uc002sou.3_Silent_p.L123L|C2orf89_uc010fgc.1_Silent_p.L123L NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 123 Extracellular (Potential). integral to membrane ovary(1) 1 GGTGGCGCTTGAGGCGGCAGT 0.572 NaN 0 0 0 0.006122 0 17 26 MRPL35 51318 broad.mit.edu 37 2 86437695 86437695 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:86437695C>T uc002srg.3 + 4 529 c.471C>T c.(469-471)CTC>CTT p.L157L MRPL35_uc002srf.3_Silent_p.L157L NM_016622 NP_057706 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 isoform a 157 translation mitochondrial ribosome structural constituent of ribosome 0 AGAGTAAACTCTTAGATAAAA 0.388 NaN 0 0 0 0.006214 0 10 104 SLC9A2 6549 broad.mit.edu 37 2 103318920 103318920 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:103318920C>G uc002tca.2 + 9 1946 c.1804C>G c.(1804-1806)CGA>GGA p.R602G NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 602 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 TGATGAAATTCGAGAACTCTT 0.328 NaN 0 0 0 0.001168 0 6 97 CHCHD5 84269 broad.mit.edu 37 2 113343831 113343831 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:113343831G>C uc002thz.1 + 3 387 c.198G>C c.(196-198)GAG>GAC p.E66D CHCHD5_uc002tia.2_Missense_Mutation_p.E66D NM_032309 NP_115685 Q9BSY4 CHCH5_HUMAN coiled-coil-helix-coiled-coil-helix domain 66 CHCH. 0 AGGCCTTCGAGGAGTGTCTTC 0.632 NaN 0 0 0 0.004672 0 3 42 LIMS2 55679 broad.mit.edu 37 2 128412051 128412051 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:128412051G>A uc002tpa.2 - 4 472 c.306C>T c.(304-306)TGC>TGT p.C102C LIMS2_uc002tox.2_Silent_p.C126C|LIMS2_uc010fmb.2_Silent_p.C12C|LIMS2_uc002toy.2_Silent_p.C97C|LIMS2_uc010yzm.1_Silent_p.C124C|LIMS2_uc002toz.2_Silent_p.C97C|LIMS2_uc002tpb.2_Silent_p.C97C NM_001161403 NP_001154875 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 102 LIM zinc-binding 2. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CACACAGCTCGCAGCGGAAGC 0.617 NaN 0 0 0 0.002445 0 33 73 LY75 4065 broad.mit.edu 37 2 160738705 160738705 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:160738705G>C uc002ubc.3 - 7 1245 c.1176C>G c.(1174-1176)TTC>TTG p.F392L LY75_uc002ubb.3_Missense_Mutation_p.F392L|LY75_uc010fos.2_Missense_Mutation_p.F392L|LY75_uc010fot.1_Missense_Mutation_p.F392L NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 392 C-type lectin 2.|Extracellular (Potential). endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) GGTCACTACTGAAGGCTTTGC 0.423 NaN 0 0 0 0.004007 0 15 121 GAD1 2571 broad.mit.edu 37 2 171709254 171709254 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:171709254G>C uc002ugi.2 + 13 1637 c.1215G>C c.(1213-1215)AAG>AAC p.K405N GAD1_uc010fqc.2_Missense_Mutation_p.K24N NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 405 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ACCCTCACAAGATGATGGGCG 0.507 NaN 0 0 0 0.000602 0 5 28 SP3 6670 broad.mit.edu 37 2 174819648 174819648 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:174819648G>A uc002uig.2 - 4 1756 c.1592C>T c.(1591-1593)TCT>TTT p.S531F SP3_uc002uie.2_Missense_Mutation_p.S463F|SP3_uc002uif.2_Missense_Mutation_p.S478F|SP3_uc010zel.1_Missense_Mutation_p.S528F NM_003111 NP_003102 Q02447 SP3_HUMAN Sp3 transcription factor isoform 1 531 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.185) TATACCAGCAGAATCTATAGA 0.433 NaN 0 0 0 0.000602 0 5 122 GPR155 151556 broad.mit.edu 37 2 175311382 175311382 + Missense_Mutation SNP C C T rs111563303 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:175311382C>T uc002uit.2 - 13 2361 c.1970G>A c.(1969-1971)CGA>CAA p.R657Q GPR155_uc002uiu.2_Missense_Mutation_p.R657Q|GPR155_uc002uiv.2_Missense_Mutation_p.R657Q|GPR155_uc010fqs.2_Missense_Mutation_p.R629Q NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 657 intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 CAACACATGTCGGGTCAGTTG 0.423 NaN 0 0 0 0.006214 0 8 125 TTN 7273 broad.mit.edu 37 2 179474576 179474576 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:179474576C>T uc010zfg.1 - 221 44094 c.43870G>A c.(43870-43872)GAA>AAA p.E14624K uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8319K|TTN_uc010zfi.1_Missense_Mutation_p.E8252K|TTN_uc010zfj.1_Missense_Mutation_p.E8127K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15551 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) TTCCACCTTTCTTCACCCTTA 0.463 NaN 0 0 0 0.00361 0 50 486 TTN 7273 broad.mit.edu 37 2 179629030 179629030 + Splice_Site SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:179629030C>G uc010zfg.1 - 43 10213 c.9989_splice c.e43-1 p.V3330_splice TTN_uc010zfh.1_Splice_Site_p.V3284_splice|TTN_uc010zfi.1_Splice_Site_p.V3284_splice|TTN_uc010zfj.1_Splice_Site_p.V3284_splice|TTN_uc002umz.1_Splice_Site|TTN_uc002unb.2_Splice_Site_p.V3330_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 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) ACTTCTGGAACTAAAGAAAGA 0.458 NaN 0 0 0 0.009096 0 4 41 ORMDL1 94101 broad.mit.edu 37 2 190636562 190636562 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:190636562G>C uc002urb.3 - 3 1180 c.393C>G c.(391-393)CTC>CTG p.L131L ORMDL1_uc002urc.3_Silent_p.L131L|ORMDL1_uc002urd.3_Silent_p.L131L|ORMDL1_uc002ure.3_Silent_p.L131L NM_016467 NP_057551 Q9P0S3 ORML1_HUMAN ORM1-like 1 131 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889) GTACACTCAGGAGAGAAGCTG 0.313 NaN 0 0 0 0.001855 0 13 88 SGOL2 151246 broad.mit.edu 37 2 201436243 201436243 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:201436243G>C uc002uvw.2 + 7 1287 c.1174G>C c.(1174-1176)GAA>CAA p.E392Q SGOL2_uc010zhd.1_Missense_Mutation_p.E392Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E392Q NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 392 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 AAAAACAAATGAACATGGAAT 0.318 NaN 0 0 0 0.00308 0 8 46 BMPR2 659 broad.mit.edu 37 2 203420419 203420419 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:203420419C>G uc002uzf.3 + 12 3179 c.2031C>G c.(2029-2031)CTC>CTG p.L677L BMPR2_uc010ftr.2_Intron NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 677 Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 ATAAGAACCTCAAGGAAAGCT 0.463 NaN 0 0 0 0.006214 0 10 68 ICA1L 130026 broad.mit.edu 37 2 203650667 203650667 + Nonsense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:203650667G>C uc002uzh.1 - 13 1471 c.1307C>G c.(1306-1308)TCA>TGA p.S436* ICA1L_uc002uzi.1_Nonsense_Mutation_p.S436* NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like isoform 1 436 0 TGGACTCTGTGAAGGCACTGG 0.323 NaN 0 0 0 0.00499 0 14 74 CPS1 1373 broad.mit.edu 37 2 211481249 211481249 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:211481249C>G uc002vee.3 + 21 2803 c.2671C>G c.(2671-2673)CTG>GTG p.L891V CPS1_uc010fur.2_Missense_Mutation_p.L897V|CPS1_uc010fus.2_Missense_Mutation_p.L440V|LOC29034_uc002vef.2_5'Flank NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 891 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GGAAAAGACACTGAAAGGCCT 0.398 NaN 0 0 0 0.000602 0 4 107 ERBB4 2066 broad.mit.edu 37 2 212530179 212530179 + Nonsense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:212530179G>T uc002veg.1 - 15 1838 c.1740C>A c.(1738-1740)TGC>TGA p.C580* ERBB4_uc002veh.1_Nonsense_Mutation_p.C580*|ERBB4_uc010zji.1_Nonsense_Mutation_p.C580*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.C580*|ERBB4_uc010fut.1_Nonsense_Mutation_p.C580* NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 580 Extracellular (Potential).|Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TAAAATGAGAGCACTTTGTAC 0.393 NaN TSP Lung(8;0.080) 1 0 0.00307968 0.00308 0.00314745 7 59 WDR69 164781 broad.mit.edu 37 2 228754637 228754637 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:228754637C>T uc002vpn.1 + 3 258 c.179C>T c.(178-180)ACA>ATA p.T60I WDR69_uc010zlw.1_Missense_Mutation_p.T45I|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 60 breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) GCTTCACGAACAGAGCAAGTC 0.383 NaN 0 0 0 0.001855 0 14 56 DIS3L2 129563 broad.mit.edu 37 2 233075107 233075107 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:233075107T>A uc010fxz.2 + 10 1472 c.1196T>A c.(1195-1197)CTC>CAC p.L399H DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 399 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TGCAAGCCACTCGCTGACGGT 0.512 NaN 0 0 0 0.004672 0 3 31 GPR35 2859 broad.mit.edu 37 2 241569480 241569480 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:241569480C>G uc002vzs.1 + 1 686 c.111C>G c.(109-111)CTC>CTG p.L37L GPR35_uc010fzh.1_Silent_p.L68L|GPR35_uc010fzi.1_Silent_p.L68L NM_005301 NP_005292 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 37 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity skin(2)|pancreas(1) 3 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GCCTGCTGCTCAACAGCCTGG 0.642 NaN 0 0 0 0.000602 0 5 38 CPXM1 56265 broad.mit.edu 37 20 2777020 2777020 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:2777020A>T uc002wgu.2 - 9 1179 c.1115T>A c.(1114-1116)CTC>CAC p.L372H CPXM1_uc010gas.2_Missense_Mutation_p.L372H NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 372 Poly-Leu. cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 CTGCATCAGGAGCAGAAGCAA 0.642 NaN 0 0 0 0.008291 0 11 86 PLAGL2 5326 broad.mit.edu 37 20 30784748 30784748 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:30784748G>C uc002wxn.2 - 3 1215 c.998C>G c.(997-999)TCT>TGT p.S333C NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 333 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGCTGGGGAAGAGATAGGTGA 0.562 NaN 0 0 0 0.001168 0 5 227 PLCG1 5335 broad.mit.edu 37 20 39802821 39802821 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:39802821G>C uc002xjp.1 + 31 3821 c.3700G>C c.(3700-3702)GAT>CAT p.D1234H PLCG1_uc002xjo.1_Missense_Mutation_p.D1235H|PLCG1_uc010zwe.1_Missense_Mutation_p.D900H NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 1234 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GCGGGGCTCAGATGCCTCAGG 0.597 NaN 0 0 0 0.004482 0 9 76 RBPJL 11317 broad.mit.edu 37 20 43943062 43943062 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:43943062A>G uc002xns.2 + 9 949 c.877A>G c.(877-879)AAA>GAA p.K293E RBPJL_uc002xnt.2_Missense_Mutation_p.K293E NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN recombining binding protein L 293 By similarity. signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GATCATCCGTAAAGTAGCAAA 0.577 NaN 0 0 0 0.009096 0 4 163 ZBP1 81030 broad.mit.edu 37 20 56186846 56186846 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:56186846C>G uc002xyo.2 - 6 1092 c.811G>C c.(811-813)GAG>CAG p.E271Q ZBP1_uc010gjm.2_Missense_Mutation_p.E270Q|ZBP1_uc002xyp.2_Missense_Mutation_p.E196Q NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 isoform a 271 RIP homotypic interaction motif (RHIM) 2. cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding ovary(2) 2 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) AGCCTCATCTCATTGCTGTGT 0.632 NaN 0 0 0 0.000602 0 5 20 NRIP1 8204 broad.mit.edu 37 21 16337647 16337647 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:16337647G>C uc002yjx.2 - 4 3465 c.2867C>G c.(2866-2868)TCT>TGT p.S956C NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 956 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GTCAGCCACAGAGTTACTTCT 0.418 NaN 0 0 0 0.00623 0 39 193 NRIP1 8204 broad.mit.edu 37 21 16338392 16338392 + Nonsense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:16338392C>A uc002yjx.2 - 4 2720 c.2122G>T c.(2122-2124)GAA>TAA p.E708* NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 708 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GTACGTCTTTCAAGCAGATTT 0.403 NaN 1 0 4.35082e-09 0.010504 4.69933e-09 20 108 NRIP1 8204 broad.mit.edu 37 21 16340196 16340196 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:16340196C>T uc002yjx.2 - 4 916 c.318G>A c.(316-318)ATG>ATA p.M106I NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 106 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) CGTTTAAATTCATGATAGAAT 0.468 NaN 0 0 0 0.007413 0 18 140 NRIP1 8204 broad.mit.edu 37 21 16340220 16340220 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:16340220C>T uc002yjx.2 - 4 892 c.294G>A c.(292-294)CGG>CGA p.R98R NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 98 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) ACAGCCTCTTCCGCTTTGCTG 0.458 NaN 0 0 0 0.004007 0 15 101 JAM2 58494 broad.mit.edu 37 21 27062211 27062211 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:27062211C>A uc002ylp.1 + 3 712 c.167C>A c.(166-168)ACT>AAT p.T56N JAM2_uc011ace.1_Missense_Mutation_p.T56N|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Intron|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.T56N|JAM2_uc010gli.1_Missense_Mutation_p.T56N NM_021219 NP_067042 P57087 JAM2_HUMAN junctional adhesion molecule 2 precursor 56 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction 0 CCAAAGAAGACTGTTTCCTCC 0.393 NaN 1 0 2.35188e-11 0.006122 2.58707e-11 16 211 BACH1 571 broad.mit.edu 37 21 30701862 30701862 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:30701862C>G uc002ynj.2 + 4 1739 c.1624C>G c.(1624-1626)CAG>GAG p.Q542E BACH1_uc002ynk.2_Missense_Mutation_p.Q542E|BACH1_uc002ynl.2_RNA NM_001186 NP_001177 O14867 BACH1_HUMAN BTB and CNC homology 1 transcription factor 542 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|liver(1) 2 AAATGATTTTCAGTCCTTGTT 0.343 NaN 0 0 0 0.008291 0 11 41 DNAJC28 54943 broad.mit.edu 37 21 34860591 34860591 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:34860591C>G uc002yrv.2 - 2 1559 c.1110G>C c.(1108-1110)AAG>AAC p.K370N DNAJC28_uc002yrw.2_Missense_Mutation_p.K370N NM_017833 NP_060303 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 370 LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). heat shock protein binding 0 AAAAACCTTTCTTGATTTCAG 0.318 NaN 0 0 0 0.010504 0 20 94 PDE9A 5152 broad.mit.edu 37 21 44179187 44179187 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:44179187A>T uc002zbm.2 + 11 952 c.889A>T c.(889-891)AGG>TGG p.R297W PDE9A_uc002zbn.2_Missense_Mutation_p.R170W|PDE9A_uc002zbo.2_Missense_Mutation_p.R244W|PDE9A_uc002zbp.2_Missense_Mutation_p.R90W|PDE9A_uc002zbq.2_Missense_Mutation_p.R195W|PDE9A_uc002zbs.2_Missense_Mutation_p.R90W|PDE9A_uc002zbr.2_Missense_Mutation_p.R90W|PDE9A_uc002zbt.2_Missense_Mutation_p.R169W|PDE9A_uc002zbu.2_Missense_Mutation_p.R163W|PDE9A_uc002zbv.2_Missense_Mutation_p.R137W|PDE9A_uc002zbw.2_Missense_Mutation_p.R80W|PDE9A_uc002zbx.2_Missense_Mutation_p.R237W|PDE9A_uc002zby.2_Missense_Mutation_p.R80W|PDE9A_uc002zbz.2_Missense_Mutation_p.R189W|PDE9A_uc002zca.2_Missense_Mutation_p.R256W|PDE9A_uc002zcb.2_Missense_Mutation_p.R271W|PDE9A_uc002zcc.2_Missense_Mutation_p.R196W|PDE9A_uc002zcd.2_Missense_Mutation_p.R211W|PDE9A_uc002zce.2_Missense_Mutation_p.R230W|PDE9A_uc002zcf.2_Missense_Mutation_p.R90W|PDE9A_uc002zcg.2_Missense_Mutation_p.R90W|PDE9A_uc002zch.2_Missense_Mutation_p.R80W|PDE9A_uc010gpf.1_Missense_Mutation_p.R90W NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 297 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 CACCCTCAGGAGGTGGCTGGT 0.587 NaN 0 0 0 0.009096 0 3 30 GAB4 128954 broad.mit.edu 37 22 17449260 17449260 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:17449260C>T uc002zlw.2 - 5 1059 c.951G>A c.(949-951)AAG>AAA p.K317K GAB4_uc010gqs.1_Missense_Mutation_p.V217I NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 317 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) GCTGGGTGTACTTGCCGGAGG 0.577 NaN 0 0 0 0.00245 0 11 45 ATP6V1E1 529 broad.mit.edu 37 22 18075495 18075495 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:18075495G>C uc002zmr.1 - 9 813 c.626C>G c.(625-627)CCA>CGA p.P209R ATP6V1E1_uc002zms.1_Missense_Mutation_p.P179R|ATP6V1E1_uc002zmt.1_Missense_Mutation_p.P187R NM_001696 NP_001687 P36543 VATE1_HUMAN vacuolar H+ ATPase E1 isoform a 209 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain protein binding|proton-transporting ATPase activity, rotational mechanism large_intestine(1)|central_nervous_system(1) 2 all_epithelial(15;0.206) Lung(27;0.19) CCGGACTTCTGGCATCATCTG 0.423 NaN 0 0 0 0.005443 0 25 84 SEC14L3 266629 broad.mit.edu 37 22 30866040 30866040 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:30866040T>A uc003ahy.2 - 4 289 c.200A>T c.(199-201)GAT>GTT p.D67V SEC14L3_uc003ahz.2_5'UTR|SEC14L3_uc003aia.2_Missense_Mutation_p.D8V|SEC14L3_uc003aib.2_Missense_Mutation_p.D8V NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN SEC14-like 3 67 integral to membrane|intracellular lipid binding|transporter activity ovary(3)|pancreas(1)|skin(1) 5 Vitamin E(DB00163) ATGGTCAATATCCATGGTCTT 0.542 NaN 0 0 0 0.00361 0 109 59 APOL1 8542 broad.mit.edu 37 22 36661303 36661303 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:36661303C>T uc003apf.2 + 6 589 c.421C>T c.(421-423)CTG>TTG p.L141L APOL1_uc011amn.1_Silent_p.L18L|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Silent_p.L157L|APOL1_uc011amo.1_Silent_p.L18L|APOL1_uc011amp.1_Silent_p.L141L|APOL1_uc011amq.1_Silent_p.L123L|APOL1_uc010gwx.2_Silent_p.L18L NM_003661 NP_003652 O14791 APOL1_HUMAN apolipoprotein L1 isoform a precursor 141 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|ovary(1) 3 AAACTGGTTTCTGAAAGAGTT 0.473 NaN 0 0 0 0.004007 0 16 82 CACNA1I 8911 broad.mit.edu 37 22 40066081 40066081 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:40066081C>T uc003ayc.2 + 25 4233 c.4233C>T c.(4231-4233)TTC>TTT p.F1411F CACNA1I_uc003ayd.2_Silent_p.F1376F|CACNA1I_uc003aye.2_Silent_p.F1326F|CACNA1I_uc003ayf.2_Silent_p.F1291F NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1411 Helical; Name=S6 of repeat III; (Potential).|III. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TGCTGTACTTCATCTCCTTCC 0.577 NaN 0 0 0 0.006999 0 37 194 SAPS2 9701 broad.mit.edu 37 22 50869673 50869673 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:50869673C>G uc003blb.1 + 12 1619 c.1197C>G c.(1195-1197)CTC>CTG p.L399L SAPS2_uc003bky.1_Silent_p.L399L|SAPS2_uc003bkz.1_Silent_p.L399L|SAPS2_uc003blc.2_Silent_p.L399L|SAPS2_uc003bla.1_Silent_p.L400L|SAPS2_uc003bld.1_5'UTR NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 399 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) CCGCTATTCTCTCCCACGCTG 0.547 NaN 0 0 0 0.004878 0 31 100 CRELD1 78987 broad.mit.edu 37 3 9979321 9979321 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:9979321G>A uc003bug.2 + 4 451 c.333G>A c.(331-333)CTG>CTA p.L111L CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.L111L|CRELD1_uc003buh.2_Silent_p.L111L|CRELD1_uc003bui.2_Silent_p.L111L|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 111 Extracellular (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 TGCTGGAGCTGAGTGAGGAGC 0.602 NaN 0 0 0 0.004672 0 3 10 VGLL4 9686 broad.mit.edu 37 3 11643348 11643348 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:11643348G>C uc003bwf.2 - 3 579 c.213C>G c.(211-213)AAC>AAG p.N71K VGLL4_uc010hdx.1_Missense_Mutation_p.N77K|VGLL4_uc003bwg.2_Missense_Mutation_p.N76K|VGLL4_uc011aun.1_Missense_Mutation_p.N12K NM_014667 NP_055482 Q14135 VGLL4_HUMAN vestigial like 4 isoform b 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) AGACGTGGTCGTTGTCACAGT 0.557 NaN 0 0 0 0.001882 0 20 84 XPC 7508 broad.mit.edu 37 3 14212042 14212042 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:14212042G>T uc011ave.1 - 3 412 c.308C>A c.(307-309)CCA>CAA p.P103Q XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_Missense_Mutation_p.P103Q NM_004628 NP_004619 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 103 Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding ovary(2)|breast(1) 3 GAGGTCACTTGGAAAGTCCCT 0.423 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma NER Xeroderma_Pigmentosum 1 0 0.000151284 0.001855 0.000156915 11 178 C3orf35 339883 broad.mit.edu 37 3 37458815 37458815 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:37458815G>C uc003cha.3 + 5 722 c.58G>C c.(58-60)GAA>CAA p.E20Q C3orf35_uc003chb.2_Missense_Mutation_p.E20Q NM_178339 NP_848029 Q8IVJ8 APRG1_HUMAN AP20 region protein isoform B 20 integral to membrane central_nervous_system(1) 1 CCCAGAATTTGAAAATGTGAT 0.398 NaN 0 0 0 0.001984 0 7 116 NKTR 4820 broad.mit.edu 37 3 42679619 42679619 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:42679619C>T uc003clo.2 + 13 2570 c.2423C>T c.(2422-2424)TCT>TTT p.S808F NKTR_uc003clm.1_Missense_Mutation_p.S555F|NKTR_uc003clp.2_Missense_Mutation_p.S555F|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S698F|NKTR_uc003clr.1_Missense_Mutation_p.S555F|NKTR_uc003cls.2_Missense_Mutation_p.S508F NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 808 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) TTAGATTATTCTTCAGACAGT 0.408 NaN 0 0 0 0.006122 0 17 78 KIF15 56992 broad.mit.edu 37 3 44846547 44846547 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:44846547G>C uc003cnx.3 + 15 1865 c.1716G>C c.(1714-1716)CAG>CAC p.Q572H KIF15_uc010hiq.2_Missense_Mutation_p.Q475H|KIF15_uc003cny.1_Missense_Mutation_p.Q207H NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 572 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CTAAAGCTCAGAAAGAGCCAT 0.274 NaN 0 0 0 0.004007 0 15 59 STAB1 23166 broad.mit.edu 37 3 52556921 52556921 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:52556921C>T uc003dej.2 + 62 6949 c.6875C>T c.(6874-6876)TCA>TTA p.S2292L STAB1_uc003dek.1_Missense_Mutation_p.S307L|STAB1_uc003del.2_Missense_Mutation_p.S179L NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2292 Extracellular (Potential).|Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AAGAACCTCTCAGAACGCTGG 0.617 NaN 0 0 0 0.009096 0 4 46 PTPRG 5793 broad.mit.edu 37 3 62267314 62267314 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:62267314G>A uc003dlb.2 + 27 4561 c.3842G>A c.(3841-3843)AGC>AAC p.S1281N PTPRG_uc003dlc.2_Missense_Mutation_p.S1252N|PTPRG_uc011bfi.1_Missense_Mutation_p.S527N|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1281 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ACCCTTATCAGCAAAGACAGA 0.403 NaN 0 0 0 0.009096 0 4 93 ADAMTS9 56999 broad.mit.edu 37 3 64644236 64644236 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:64644236C>A uc003dmg.2 - 4 943 c.911G>T c.(910-912)AGA>ATA p.R304I ADAMTS9_uc011bfo.1_Missense_Mutation_p.R304I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R133I|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R304I NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 304 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGAAACCATTCTGTTGTCTGC 0.368 NaN 1 0 1.96895e-08 0.00278 2.12119e-08 24 572 ARL6IP5 10550 broad.mit.edu 37 3 69153637 69153637 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:69153637G>A uc003dnr.2 + 3 526 c.417G>A c.(415-417)TTG>TTA p.L139L NM_006407 NP_006398 O75915 PRAF3_HUMAN ADP-ribosylation-like factor 6 interacting 139 Cytoplasmic (By similarity).|Targeting to endoplasmic reticulum membrane (By similarity). L-glutamate transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238) ATGCATCGTTGAGACTTCGGA 0.443 NaN 0 0 0 0.00278 0 23 759 CEP97 79598 broad.mit.edu 37 3 101481386 101481386 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:101481386C>G uc003dvk.1 + 10 1902 c.1875C>G c.(1873-1875)TTC>TTG p.F625L CEP97_uc011bhf.1_Missense_Mutation_p.F566L|CEP97_uc003dvl.1_Missense_Mutation_p.F321L|CEP97_uc003dvm.1_Missense_Mutation_p.F463L NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 625 CEP110 binding. centrosome|nucleus protein binding ovary(2) 2 AAGAAGCTTTCAGATTCCTTT 0.328 NaN 0 0 0 0.006122 0 17 123 CD200 4345 broad.mit.edu 37 3 112054854 112054854 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:112054854A>G uc003dyw.2 + 2 221 c.77A>G c.(76-78)AAT>AGT p.N26S CD200_uc010hqd.1_Intron|CD200_uc003dyx.2_Intron|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron NM_001004196 NP_001004196 P41217 OX2G_HUMAN CD200 antigen isoform b Error:Variant_position_missing_in_P41217_after_alignment regulation of immune response integral to plasma membrane 0 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) ACCACCATCAATGATTACCAG 0.338 NaN 0 0 0 0.002836 0 33 68 C3orf1 51300 broad.mit.edu 37 3 119217621 119217621 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:119217621G>A uc003ecn.2 + 1 254 c.41G>A c.(40-42)AGA>AAA p.R14K C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_5'Flank NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 14 integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) TTTCTCTGTAGAGCATTGTGC 0.592 NaN 0 0 0 0.009535 0 27 196 GOLGB1 2804 broad.mit.edu 37 3 121410632 121410632 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:121410632G>C uc003eei.3 - 14 7690 c.7564C>G c.(7564-7566)CTC>GTC p.L2522V GOLGB1_uc010hrc.2_Missense_Mutation_p.L2527V|GOLGB1_uc003eej.3_Missense_Mutation_p.L2488V NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2522 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TCAGAATTGAGATCATCCATA 0.393 NaN 0 0 0 0.004482 0 9 357 MYLK 4638 broad.mit.edu 37 3 123452592 123452592 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:123452592C>G uc003ego.2 - 10 1533 c.1251G>C c.(1249-1251)GAG>GAC p.E417D MYLK_uc011bjw.1_Missense_Mutation_p.E417D|MYLK_uc003egp.2_Missense_Mutation_p.E417D|MYLK_uc003egq.2_Missense_Mutation_p.E417D|MYLK_uc003egr.2_Missense_Mutation_p.E417D|MYLK_uc003egs.2_Missense_Mutation_p.E241D NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 417 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGGGCTTGCTCTCAAATTTGG 0.517 NaN 0 0 0 0.001368 0 12 143 KALRN 8997 broad.mit.edu 37 3 124413264 124413264 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:124413264G>A uc003ehg.2 + 53 7618 c.7491G>A c.(7489-7491)CGG>CGA p.R2497R KALRN_uc003ehk.2_Silent_p.R800R NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2496 Ig-like C2-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TCTGTGGGCGGCCAAAGCCCA 0.532 NaN 0 0 0 0.009096 0 4 117 ZBTB38 253461 broad.mit.edu 37 3 141162247 141162247 + Silent SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:141162247T>G uc003etw.2 + 8 1999 c.1017T>G c.(1015-1017)CCT>CCG p.P339P ZBTB38_uc010hun.2_Silent_p.P336P|ZBTB38_uc010huo.2_Silent_p.P339P|ZBTB38_uc003ety.2_Silent_p.P339P|ZBTB38_uc010hup.2_Silent_p.P340P NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 339 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AGGTTCCACCTCTGGTGTACA 0.498 NaN 0 0 0 0.004482 0 7 137 GMPS 8833 broad.mit.edu 37 3 155632331 155632331 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:155632331G>C uc003faq.2 + 8 1345 c.1010G>C c.(1009-1011)AGA>ACA p.R337T GMPS_uc011bom.1_Missense_Mutation_p.R238T NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 337 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAGAGAAAAGAAAAATCATT 0.328 NaN T MLL AML 0 0 0 0.006214 0 8 92 KCNAB1 7881 broad.mit.edu 37 3 156232888 156232888 + Splice_Site SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:156232888G>T uc003far.2 + 10 809 c.745_splice c.e10-1 p.E249_splice KCNAB1_uc011bon.1_Splice_Site_p.E220_splice|KCNAB1_uc003fas.2_Splice_Site_p.E238_splice|KCNAB1_uc003fat.2_Splice_Site_p.E231_splice|KCNAB1_uc010hvt.1_Splice_Site_p.E202_splice|KCNAB1_uc011boo.1_Splice_Site_p.E125_splice NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTCCTCCCTAGGAAGCCTATT 0.413 NaN 1 0 1.33987e-11 0.008291 1.47775e-11 11 127 SKIL 6498 broad.mit.edu 37 3 170078501 170078501 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:170078501C>G uc003fgu.2 + 2 1094 c.382C>G c.(382-384)CAG>GAG p.Q128E SKIL_uc011bps.1_Missense_Mutation_p.Q108E|SKIL_uc003fgv.2_Missense_Mutation_p.Q128E|SKIL_uc003fgw.2_Missense_Mutation_p.Q128E NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 128 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TCCATCACCTCAGGTTCTTCC 0.488 NaN 0 0 0 0.005443 0 27 353 MCF2L2 23101 broad.mit.edu 37 3 183013209 183013209 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:183013209C>G uc003fli.1 - 13 1644 c.1554G>C c.(1552-1554)AAG>AAC p.K518N MCF2L2_uc003flj.1_Missense_Mutation_p.K518N|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron|uc003flo.2_5'Flank NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 518 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) TCACTTGCCTCTTGTGAAATA 0.458 NaN 0 0 0 0.000602 0 4 99 MAGEF1 64110 broad.mit.edu 37 3 184429334 184429334 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:184429334C>T uc003fpa.2 - 1 503 c.276G>A c.(274-276)AAG>AAA p.K92K NM_022149 NP_071432 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 92 MAGE. ovary(1) 1 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) GACTCTTCTTCTTGTCTTTCA 0.582 NaN 0 0 0 0.001168 0 5 176 ATP13A5 344905 broad.mit.edu 37 3 193029620 193029620 + Silent SNP G G A rs112958471 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:193029620G>A uc011bsq.1 - 20 2430 c.2430C>T c.(2428-2430)AAC>AAT p.N810N NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 810 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GAAGCAAGCTGTTGAAATGCT 0.423 NaN 0 0 0 0.001855 0 13 79 ATP13A3 79572 broad.mit.edu 37 3 194176633 194176633 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:194176633G>C uc003fty.3 - 7 1021 c.619C>G c.(619-621)CTA>GTA p.L207V NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 207 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TCTTTAATTAGAAGCTTAAAA 0.274 NaN 0 0 0 0.004482 0 7 197 WFS1 7466 broad.mit.edu 37 4 6303952 6303952 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:6303952C>A uc003giy.2 + 8 2596 c.2430C>A c.(2428-2430)TTC>TTA p.F810L WFS1_uc003gix.2_Missense_Mutation_p.F810L|WFS1_uc003giz.2_Missense_Mutation_p.F628L NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 810 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) GCAGCGAGTTCAAGAGCGTGC 0.662 NaN 1 0 0.00909568 0.009096 0.00918356 4 18 ADAMTS3 9508 broad.mit.edu 37 4 73169735 73169735 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:73169735G>A uc003hgk.1 - 17 2360 c.2323C>T c.(2323-2325)CGG>TGG p.R775W ADAMTS3_uc003hgl.2_Missense_Mutation_p.R116W NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 775 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATGAAGGTCCGCGACTTGGCT 0.393 NaN 0 0 0 0.00361 0 92 161 AFF1 4299 broad.mit.edu 37 4 88012958 88012958 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:88012958T>A uc003hqj.3 + 6 1591 c.1184T>A c.(1183-1185)GTC>GAC p.V395D AFF1_uc003hqh.1_Missense_Mutation_p.V401D|AFF1_uc011ccy.1_Missense_Mutation_p.V373D|AFF1_uc011ccz.1_Missense_Mutation_p.V402D|AFF1_uc003hqk.3_Missense_Mutation_p.V395D|AFF1_uc011cda.1_Missense_Mutation_p.V33D NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 395 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCTCAGCATGTCAGTTCTGTA 0.284 NaN 0 0 0 0.001168 0 6 9 SYNPO2 171024 broad.mit.edu 37 4 119979019 119979019 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:119979019C>G uc010inb.2 + 5 3912 c.3716C>G c.(3715-3717)TCT>TGT p.S1239C SYNPO2_uc011cgh.1_3'UTR|SYNPO2_uc010inc.2_Missense_Mutation_p.S1109C NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform a Error:Variant_position_missing_in_Q9UMS6_after_alignment nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 GAAACCAGGTCTGATTACTGT 0.443 NaN 0 0 0 0.001168 0 6 58 ZNF827 152485 broad.mit.edu 37 4 146686170 146686170 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:146686170T>G uc003ikn.2 - 13 3248 c.3200A>C c.(3199-3201)AAA>ACA p.K1067T ZNF827_uc003ikm.2_Missense_Mutation_p.K1067T|ZNF827_uc010iox.2_Missense_Mutation_p.K717T|ZNF827_uc003ikl.2_Missense_Mutation_p.K152T NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 1067 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) AGTGTGGCATTTCTTATGCTC 0.498 NaN 0 0 0 0.001984 0 5 133 NPY2R 4887 broad.mit.edu 37 4 156136153 156136153 + Silent SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:156136153C>A uc003ioq.2 + 2 1557 c.1062C>A c.(1060-1062)TCC>TCA p.S354S NPY2R_uc003ior.2_Silent_p.S354S NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 354 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) CTGAGGTGTCCGTGACATTCA 0.507 NaN 1 0 1.33834e-09 0.007413 1.44929e-09 18 75 NEIL3 55247 broad.mit.edu 37 4 178281777 178281777 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:178281777C>T uc003iut.2 + 9 1698 c.1581C>T c.(1579-1581)GGC>GGT p.G527G NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 527 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) AAAACAAGGGCAGGCAGTTTT 0.443 NaN BER_DNA_glycosylases 0 0 0 0.001168 0 6 102 EXOC3 11336 broad.mit.edu 37 5 462321 462321 + Nonsense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:462321G>T uc003jba.2 + 9 1680 c.1552G>T c.(1552-1554)GAG>TAG p.E518* NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 529 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGAAGTGGAAGAGGGTGTGTC 0.547 NaN 1 0 1.61879e-10 0.001368 1.77135e-10 12 249 SLC9A3 6550 broad.mit.edu 37 5 476396 476396 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:476396G>T uc003jbe.2 - 13 2100 c.1988C>A c.(1987-1989)TCC>TAC p.S663Y SLC9A3_uc011clx.1_Missense_Mutation_p.S654Y|uc011cly.1_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 663 Interaction with PDZD3 (By similarity).|Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGACTTGAAGGACTCCAGGCG 0.602 NaN 1 0 2.17888e-05 0.006214 2.27693e-05 9 240 CDH6 1004 broad.mit.edu 37 5 31317512 31317512 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:31317512G>C uc003jhe.1 + 10 1869 c.1543G>C c.(1543-1545)GAT>CAT p.D515H CDH6_uc003jhd.1_Missense_Mutation_p.D515H NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 515 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 TGTTGACAAGGATGACCCTTA 0.398 NaN 0 0 0 0.002299 0 20 246 SPEF2 79925 broad.mit.edu 37 5 35753786 35753786 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:35753786C>T uc003jjo.2 + 24 3502 c.3391C>T c.(3391-3393)CGG>TGG p.R1131W SPEF2_uc003jjp.1_Missense_Mutation_p.R617W NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1131 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) GGAGCAGGAGCGGCTTGACAT 0.483 NaN 0 0 0 0.003163 0 10 377 CAPSL 133690 broad.mit.edu 37 5 35910144 35910144 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:35910144T>A uc003jjt.1 - 4 444 c.349A>T c.(349-351)ATG>TTG p.M117L CAPSL_uc003jju.1_Missense_Mutation_p.M117L NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 117 EF-hand 3. cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) AAAGCTTGCATGATTACCTCT 0.373 NaN 0 0 0 0.001882 0 21 290 PAIP1 10605 broad.mit.edu 37 5 43547975 43547975 + Nonsense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:43547975G>C uc003job.2 - 3 723 c.476C>G c.(475-477)TCA>TGA p.S159* PAIP1_uc003joa.2_Nonsense_Mutation_p.S80*|PAIP1_uc010ivp.2_Nonsense_Mutation_p.S80*|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Nonsense_Mutation_p.S47* NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 159 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) AACATATTCTGATAGAGTAGG 0.368 NaN 0 0 0 0.003163 0 14 175 BDP1 55814 broad.mit.edu 37 5 70786810 70786810 + Splice_Site SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:70786810G>C uc003kbp.1 + 11 1756 c.1493_splice c.e11-1 p.N498_splice BDP1_uc003kbn.1_Splice_Site_p.N498_splice|BDP1_uc003kbo.2_Splice_Site_p.N498_splice NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGTATTTGTAGATAAATGTCA 0.363 NaN 0 0 0 0.001368 0 12 42 PCSK1 5122 broad.mit.edu 37 5 95743998 95743998 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:95743998C>G uc003kls.1 - 9 1331 c.1125G>C c.(1123-1125)ACG>ACC p.T375T PCSK1_uc010jbi.1_Silent_p.T65T NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 375 Catalytic. 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) TGTGCGTCTCCGTGCAGTCAT 0.577 NaN 0 0 0 0.001984 0 6 20 MCC 4163 broad.mit.edu 37 5 112421001 112421001 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:112421001C>T uc003kqj.3 - 7 1365 c.835G>A c.(835-837)GAG>AAG p.E279K MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E469K|MCC_uc011cwb.1_Missense_Mutation_p.E279K|MCC_uc010jcd.1_Missense_Mutation_p.E241K NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 279 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GTTTGAAGCTCTCTGACCTGA 0.532 NaN 0 0 0 0.003954 0 27 103 MRPL22 29093 broad.mit.edu 37 5 154346442 154346442 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:154346442C>T uc003lvy.3 + 7 644 c.606C>T c.(604-606)ATC>ATT p.I202I MRPL22_uc003lvz.3_Silent_p.I122I NM_014180 NP_054899 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 isoform a 202 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCGGACCATCGTTCACACTC 0.438 NaN 0 0 0 0.009096 0 4 20 MED7 9443 broad.mit.edu 37 5 156565803 156565803 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:156565803G>C uc010jik.2 - 2 1032 c.640C>G c.(640-642)CAG>GAG p.Q214E MED7_uc003lwm.3_Missense_Mutation_p.Q214E NM_001100816 NP_001094286 O43513 MED7_HUMAN mediator complex subunit 7 214 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTATAATCTGATCTCTCCTA 0.348 NaN 0 0 0 0.003214 0 43 223 STK10 6793 broad.mit.edu 37 5 171523528 171523528 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:171523528G>T uc003mbo.1 - 8 1207 c.907C>A c.(907-909)CTG>ATG p.L303M NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 303 ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGCTCCCGCAGAGCCTTGTTA 0.627 NaN 1 0 0.00198382 0.001984 0.00203743 6 124 HK3 3101 broad.mit.edu 37 5 176323070 176323070 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:176323070C>T uc003mfa.2 - 2 183 c.91G>A c.(91-93)GAG>AAG p.E31K NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 31 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|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) CTTACCAGCTCTGAGCTGTCT 0.587 NaN 0 0 0 0.006122 0 19 57 ZNF354C 30832 broad.mit.edu 37 5 178506306 178506306 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:178506306G>C uc003mju.2 + 5 988 c.873G>C c.(871-873)CTG>CTC p.L291L NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 291 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|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) all cancers(165;0.247) TCAAACATCTGAGAGTGCATA 0.418 NaN 0 0 0 0.00361 0 62 97 TBC1D9B 23061 broad.mit.edu 37 5 179292339 179292339 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:179292339G>A uc003mlh.2 - 21 3024 c.2987C>T c.(2986-2988)CCG>CTG p.P996L TBC1D9B_uc003mli.2_Missense_Mutation_p.P979L|TBC1D9B_uc003mlj.2_Missense_Mutation_p.P978L|TBC1D9B_uc003mlf.2_Missense_Mutation_p.P70L|TBC1D9B_uc003mlg.2_Missense_Mutation_p.P155L|TBC1D9B_uc011dgv.1_Missense_Mutation_p.P155L NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 996 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGATAGTCCGGAGAGCTGGT 0.537 NaN 0 0 0 0.006214 0 7 118 KIF13A 63971 broad.mit.edu 37 6 17987315 17987315 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:17987315G>C uc003ncg.3 - 2 221 c.116C>G c.(115-117)CCT>CGT p.P39R KIF13A_uc003ncf.2_Missense_Mutation_p.P39R|KIF13A_uc003nch.3_Missense_Mutation_p.P39R|KIF13A_uc003nci.3_Missense_Mutation_p.P39R|KIF13A_uc003nck.2_RNA NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 39 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) AGAAGGAGGAGGGTGCAGGAC 0.562 NaN 0 0 0 0.008291 0 9 123 ZSCAN16 80345 broad.mit.edu 37 6 28093491 28093491 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:28093491G>C uc003nkm.2 + 2 370 c.270G>C c.(268-270)CTG>CTC p.L90L uc010jqw.1_Intron|uc003nkk.1_RNA|uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Silent_p.L90L NM_025231 NP_079507 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 90 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1) 1 AACAGTTCCTGAGCATTCTTC 0.522 NaN 0 0 0 0.00308 0 8 91 TNXB 7148 broad.mit.edu 37 6 32014187 32014187 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:32014187C>T uc003nzl.2 - 31 10567 c.10365G>A c.(10363-10365)GTG>GTA p.V3455V TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3502 Fibronectin type-III 27. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCTCCTCAGCCACGGTCAGTT 0.632 NaN 0 0 0 0.004482 0 7 20 PPT2 9374 broad.mit.edu 37 6 32130348 32130348 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:32130348C>G uc003nzx.2 + 8 1282 c.714C>G c.(712-714)TTC>TTG p.F238L PPT2_uc003nzw.2_Missense_Mutation_p.F244L|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.F238L|PPT2_uc003oaa.2_Missense_Mutation_p.F238L|PPT2_uc010jtu.1_Missense_Mutation_p.F238L|EGFL8_uc003oac.1_5'Flank|EGFL8_uc003oab.1_5'Flank NM_005155 NP_005146 Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 isoform a 238 protein modification process lysosome palmitoyl-(protein) hydrolase activity 0 TTTGTAGCTTCTTTGGTTTCT 0.373 NaN 0 0 0 0.00361 0 71 234 TAP2 6891 broad.mit.edu 37 6 32800587 32800587 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:32800587C>A uc003occ.2 - 5 991 c.960G>T c.(958-960)GAG>GAT p.E320D TAP2_uc011dqf.1_Missense_Mutation_p.E320D|TAP2_uc003ocb.1_Missense_Mutation_p.E320D|TAP2_uc003ocd.2_Missense_Mutation_p.E320D NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 320 Involved in peptide-binding site.|ABC transmembrane type-1.|Cytoplasmic (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 CATCCTGGATCTCCCGAAGCA 0.612 NaN 1 0 0.00448238 0.004482 0.00455872 7 33 RGL2 5863 broad.mit.edu 37 6 33261395 33261395 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:33261395G>C uc003odv.2 - 14 1723 c.1590C>G c.(1588-1590)ATC>ATG p.I530M RGL2_uc003odu.2_Missense_Mutation_p.I90M|RGL2_uc010jur.2_Missense_Mutation_p.I90M|RGL2_uc003odw.2_Missense_Mutation_p.I448M|RGL2_uc011drb.1_3'UTR NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 530 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 TCCACTGCGAGATGACCAATG 0.572 NaN 0 0 0 0.001855 0 10 40 FKBP5 2289 broad.mit.edu 37 6 35565137 35565137 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:35565137C>G uc011dte.1 - 6 756 c.553G>C c.(553-555)GAT>CAT p.D185H FKBP5_uc003okx.2_Missense_Mutation_p.D185H|FKBP5_uc011dtf.1_Missense_Mutation_p.D6H|FKBP5_uc003oky.2_Missense_Mutation_p.D185H|FKBP5_uc003okz.2_Missense_Mutation_p.D185H NM_001145776 NP_001139248 Q13451 FKBP5_HUMAN FK506 binding protein 5 isoform 1 185 PPIase FKBP-type 2. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 AATGCCACATCTCTGCAGTCA 0.488 NaN 0 0 0 0.004482 0 9 98 LHFPL5 222662 broad.mit.edu 37 6 35773576 35773576 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:35773576C>G uc003olg.1 + 1 506 c.129C>G c.(127-129)CTC>CTG p.L43L NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 43 Helical; (Potential). integral to membrane skin(1) 1 TCATGGCCCTCTTCATCCAGC 0.592 NaN 0 0 0 0.006999 0 35 115 CDKN1A 1026 broad.mit.edu 37 6 36652284 36652284 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:36652284G>C uc003omm.3 + 2 528 c.406G>C c.(406-408)GAC>CAC p.D136H CDKN1A_uc011dtq.1_Missense_Mutation_p.D170H|CDKN1A_uc003oml.2_Missense_Mutation_p.D136H|CDKN1A_uc003omn.2_Missense_Mutation_p.D136H NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 136 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 TGGACCTGGAGACTCTCAGGG 0.587 NaN Multiple_Endocrine_Neoplasia_type_1 0 0 0 0.009096 0 4 33 RSPH9 221421 broad.mit.edu 37 6 43624433 43624433 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:43624433G>A uc003ovw.1 + 4 669 c.643G>A c.(643-645)GAC>AAC p.D215N RSPH9_uc003ovx.1_Missense_Mutation_p.D200N NM_152732 NP_689945 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog 215 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton upper_aerodigestive_tract(1)|skin(1) 2 GGATTTCATGGACTCCTTGGA 0.517 NaN Kartagener_syndrome 0 0 0 0.000978 0 10 434 HSP90AB1 3326 broad.mit.edu 37 6 44216498 44216498 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:44216498C>G uc003oxa.1 + 2 216 c.132C>G c.(130-132)ATC>ATG p.I44M HSP90AB1_uc011dvr.1_Missense_Mutation_p.I44M|HSP90AB1_uc003oxb.1_Missense_Mutation_p.I44M|HSP90AB1_uc011dvs.1_Translation_Start_Site|HSP90AB1_uc003oxc.1_5'Flank NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 44 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGGAGTTGATCTCTAATGCTT 0.433 NaN 0 0 0 0.001855 0 12 363 HCRTR2 3062 broad.mit.edu 37 6 55120033 55120033 + Missense_Mutation SNP C C T rs141639071 by1000genomes TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:55120033C>T uc003pcl.2 + 3 817 c.502C>T c.(502-504)CGG>TGG p.R168W HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.R103W NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 168 Cytoplasmic (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity p.R168W(1) ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CACAGCAAAGCGGGCCCGTAA 0.517 NaN 0 0 0 0.001168 0 5 72 MYO6 4646 broad.mit.edu 37 6 76623906 76623906 + Missense_Mutation SNP A A C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:76623906A>C uc003pih.1 + 34 3845 c.3566A>C c.(3565-3567)AAA>ACA p.K1189T MYO6_uc003pii.1_Missense_Mutation_p.K1166T|MYO6_uc003pij.1_Missense_Mutation_p.K137T NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 1198 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) CAGAGTAAGAAAAAAGGCTGG 0.532 NaN 0 0 0 0.003163 0 15 176 L3MBTL3 84456 broad.mit.edu 37 6 130413972 130413972 + Nonsense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:130413972C>G uc003qbt.2 + 17 1771 c.1601C>G c.(1600-1602)TCA>TGA p.S534* L3MBTL3_uc003qbu.2_Nonsense_Mutation_p.S509* NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 534 MBT 3. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) GGCTGGTGTTCAAAAACAGGA 0.408 NaN 0 0 0 0.00333 0 23 110 TMEM200A 114801 broad.mit.edu 37 6 130762701 130762701 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:130762701C>G uc003qca.2 + 3 2005 c.1134C>G c.(1132-1134)GCC>GCG p.A378A TMEM200A_uc010kfh.2_Silent_p.A378A|TMEM200A_uc010kfi.2_Silent_p.A378A|TMEM200A_uc003qcb.2_Silent_p.A378A NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 378 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CTGGGGCTGCCAGAAGACAGT 0.522 NaN 0 0 0 0.001855 0 13 74 NUP43 348995 broad.mit.edu 37 6 150067104 150067104 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:150067104C>G uc003qmz.2 - 2 272 c.215G>C c.(214-216)AGA>ACA p.R72T NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.R72T NM_198887 NP_942590 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 72 WD 2. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding upper_aerodigestive_tract(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) ACCATGGTGTCTGATATCACA 0.368 NaN 0 0 0 0.002096 0 31 160 SYNE1 23345 broad.mit.edu 37 6 152563519 152563519 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:152563519C>G uc010kiw.2 - 107 20351 c.19749G>C c.(19747-19749)CAG>CAC p.Q6583H SYNE1_uc010kiv.2_Missense_Mutation_p.Q1107H|SYNE1_uc003qos.3_Missense_Mutation_p.Q1107H|SYNE1_uc003qot.3_Missense_Mutation_p.Q6512H|SYNE1_uc003qou.3_Missense_Mutation_p.Q6583H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6583 Potential.|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) GTGTAAGGTTCTGATTCAGAC 0.473 NaN HNSCC(10;0.0054) 0 0 0 0.005443 0 29 120 SYNE1 23345 broad.mit.edu 37 6 152771879 152771879 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:152771879G>A uc010kiw.2 - 27 3878 c.3276C>T c.(3274-3276)GAC>GAT p.D1092D SYNE1_uc003qot.3_Silent_p.D1099D|SYNE1_uc003qou.3_Silent_p.D1092D|SYNE1_uc010kjb.1_Silent_p.D1075D|SYNE1_uc003qow.2_Silent_p.D387D|SYNE1_uc003qox.1_Silent_p.D608D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1092 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) CCCTTACTGGGTCCCGCACTG 0.493 NaN HNSCC(10;0.0054) 0 0 0 0.006214 0 8 263 CYP2W1 54905 broad.mit.edu 37 7 1024674 1024674 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:1024674G>A uc003sjq.1 + 3 439 c.426G>A c.(424-426)CCG>CCA p.P142P CYP2W1_uc003sjr.1_Silent_p.P142P NM_017781 NP_060251 Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, 142 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GCCGGGAGCCGGTGGCTGACA 0.677 NaN 0 0 0 0.007413 0 14 16 CHST12 55501 broad.mit.edu 37 7 2472655 2472655 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:2472655G>C uc003smc.2 + 2 516 c.381G>C c.(379-381)GTG>GTC p.V127V CHST12_uc003smd.2_Silent_p.V127V NM_018641 NP_061111 Q9NRB3 CHSTC_HUMAN carbohydrate sulfotransferase 12 127 Lumenal (Potential). dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding kidney(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GGAGGAGCGTGCTGCGGGGCT 0.706 NaN 0 0 0 0.003163 0 16 45 DAGLB 221955 broad.mit.edu 37 7 6461401 6461401 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:6461401A>T uc003sqa.2 - 9 1345 c.1175T>A c.(1174-1176)GTG>GAG p.V392E DAGLB_uc003spz.2_Missense_Mutation_p.V89E|DAGLB_uc011jwt.1_Missense_Mutation_p.V206E|DAGLB_uc011jwu.1_Missense_Mutation_p.V263E|DAGLB_uc003sqb.2_Missense_Mutation_p.V111E|DAGLB_uc003sqc.2_Missense_Mutation_p.V111E|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.V351E|DAGLB_uc011jww.1_RNA NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 392 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CACGTCCAGCACCTCACTCTC 0.587 NaN 0 0 0 0.001168 0 6 20 HDAC9 9734 broad.mit.edu 37 7 18975441 18975441 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:18975441A>T uc003suh.2 + 22 2845 c.2804A>T c.(2803-2805)CAT>CTT p.H935L HDAC9_uc003sue.2_Missense_Mutation_p.H935L|HDAC9_uc003sui.2_Missense_Mutation_p.H938L|HDAC9_uc003suj.2_Missense_Mutation_p.H894L|HDAC9_uc003suk.2_Missense_Mutation_p.H183L NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 935 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) GGTTTTGGTCATTTGACGAAG 0.353 NaN 0 0 0 0.00361 0 60 112 GARS 2617 broad.mit.edu 37 7 30673444 30673444 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:30673444G>C uc003tbm.2 + 17 2545 c.2188G>C c.(2188-2190)GAG>CAG p.E730Q NM_002047 NP_002038 P41250 SYG_HUMAN glycyl-tRNA synthetase 730 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity ovary(1) 1 Glycine(DB00145) TGAAGGGCAAGAGACTGGTAA 0.428 NaN 0 0 0 0.001855 0 12 55 PDE1C 5137 broad.mit.edu 37 7 31793151 31793151 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:31793151C>T uc003tcm.1 - 18 2446 c.1977G>A c.(1975-1977)TTG>TTA p.L659L PDE1C_uc003tcn.1_Silent_p.L659L|PDE1C_uc003tco.1_Silent_p.L719L NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 659 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TAAAATGACGCAAAGGAGGCT 0.483 NaN 0 0 0 0.006999 0 42 37 BBS9 27241 broad.mit.edu 37 7 33384191 33384191 + Splice_Site SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:33384191A>T uc003tdn.1 + 12 1789 c.1276_splice c.e12-2 p.Q426_splice BBS9_uc003tdo.1_Splice_Site_p.Q426_splice|BBS9_uc003tdp.1_Splice_Site_p.Q426_splice|BBS9_uc003tdq.1_Splice_Site_p.Q426_splice|BBS9_uc010kwn.1_Splice_Site|BBS9_uc003tdr.1_5'Flank|BBS9_uc011kao.1_Splice_Site_p.Q304_splice NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) CTGTGTTTACAGCAAGCGACC 0.388 NaN Bardet-Biedl_syndrome 0 0 0 0.00632 0 26 94 INHBA 3624 broad.mit.edu 37 7 41739709 41739709 + Silent SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:41739709T>C uc003thq.2 - 1 499 c.264A>G c.(262-264)AGA>AGG p.R88R LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Silent_p.R88R|LOC285954_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 88 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CATGAAGCTTTCTGATCGCGT 0.522 NaN TSP Lung(11;0.080) 0 0 0 0.008871 0 18 482 URGCP 55665 broad.mit.edu 37 7 43917868 43917868 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:43917868C>G uc003tiw.2 - 6 1251 c.1194G>C c.(1192-1194)CTG>CTC p.L398L URGCP_uc003tiu.2_Silent_p.L355L|URGCP_uc003tiv.2_Silent_p.L323L|URGCP_uc003tix.2_Silent_p.L389L|URGCP_uc003tiy.2_Silent_p.L355L|URGCP_uc003tiz.2_Silent_p.L355L|URGCP_uc011kbj.1_Silent_p.L355L NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 398 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 TCAGAAATCTCAGGTTTGTGT 0.448 NaN 0 0 0 0.006214 0 8 210 ABCB4 5244 broad.mit.edu 37 7 87032471 87032471 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:87032471G>C uc003uiv.1 - 27 3710 c.3634C>G c.(3634-3636)CTG>GTG p.L1212V ABCB4_uc003uiw.1_Missense_Mutation_p.L1205V|ABCB4_uc003uix.1_Missense_Mutation_p.L1158V NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1212 ABC transporter 2.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TCAGTATCCAGAGCTGATGTA 0.433 NaN 0 0 0 0.005524 0 39 233 SAMD9 54809 broad.mit.edu 37 7 92732369 92732369 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:92732369C>T uc003umf.2 - 3 3298 c.3042G>A c.(3040-3042)GAG>GAA p.E1014E SAMD9_uc003umg.2_Silent_p.E1014E NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1014 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AGAACAAATTCTCAGTTAGCA 0.373 NaN 0 0 0 0.00361 0 72 86 TRRAP 8295 broad.mit.edu 37 7 98547739 98547739 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:98547739G>C uc003upp.2 + 37 5376 c.5167G>C c.(5167-5169)GGT>CGT p.G1723R TRRAP_uc011kis.1_Missense_Mutation_p.G1705R|TRRAP_uc003upr.2_Missense_Mutation_p.G1422R NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1723 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCCTTTACTGGTCGTTTTCT 0.413 NaN 0 0 0 0.008291 0 10 201 TRRAP 8295 broad.mit.edu 37 7 98588176 98588176 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:98588176G>T uc003upp.2 + 63 9911 c.9702G>T c.(9700-9702)TGG>TGT p.W3234C TRRAP_uc011kis.1_Missense_Mutation_p.W3205C|TRRAP_uc003upr.2_Missense_Mutation_p.W2922C NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3234 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGCTGGCCTGGATCCCACAGC 0.552 NaN 1 0 1.33834e-09 0.007413 1.44929e-09 12 68 DNAJB9 4189 broad.mit.edu 37 7 108212184 108212184 + Missense_Mutation SNP A A C rs78948360 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:108212184A>C uc003vfn.2 + 2 216 c.14A>C c.(13-15)CAG>CCG p.Q5P THAP5_uc003vfl.2_5'Flank|THAP5_uc003vfm.2_5'Flank NM_012328 NP_036460 Q9UBS3 DNJB9_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 9 5 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding 0 GCTACTCCCCAGTCAATTTTC 0.318 NaN 0 0 0 0.007413 0 13 85 FOXP2 93986 broad.mit.edu 37 7 114299626 114299626 + Splice_Site SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:114299626G>C uc003vhb.2 + 13 1920 c.1546_splice c.e13-1 p.A516_splice FOXP2_uc003vgu.2_Splice_Site|FOXP2_uc003vgz.2_Splice_Site_p.A541_splice|FOXP2_uc003vha.2_Splice_Site_p.A424_splice|FOXP2_uc011kmu.1_Splice_Site_p.A533_splice|FOXP2_uc011kmv.1_Splice_Site_p.A515_splice|FOXP2_uc010ljz.1_Splice_Site_p.A331_splice|FOXP2_uc003vhe.1_Splice_Site_p.A86_splice NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TCTCATTTCAGGCTATCATGG 0.363 NaN 0 0 0 0.003163 0 14 130 LMOD2 442721 broad.mit.edu 37 7 123302335 123302335 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:123302335T>C uc003vky.2 + 2 852 c.695T>C c.(694-696)TTT>TCT p.F232S NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 232 cytoskeleton actin binding|tropomyosin binding 0 CTTACCCGCTTTGCTGAAGCC 0.488 NaN 0 0 0 0.001168 0 5 21 FAM40B 57464 broad.mit.edu 37 7 129110495 129110495 + Nonsense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:129110495C>G uc011koy.1 + 18 1923 c.1883C>G c.(1882-1884)TCA>TGA p.S628* FAM40B_uc003vow.2_Nonsense_Mutation_p.S628*|FAM40B_uc011koz.1_Nonsense_Mutation_p.S120* NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 628 0 TACAGCATCTCAGTCCTGGAT 0.463 NaN 0 0 0 0.009096 0 4 42 AKR1B15 441282 broad.mit.edu 37 7 134261766 134261766 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:134261766A>G uc011kpr.1 + 10 1176 c.877A>G c.(877-879)ATG>GTG p.M293V AKR1B15_uc011kps.1_Missense_Mutation_p.M265V NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 293 NADP (By similarity). oxidoreductase activity ovary(1) 1 CCCCAAGTCTATGACACCAGC 0.517 NaN 0 0 0 0.001168 0 5 120 TAS2R60 338398 broad.mit.edu 37 7 143141091 143141091 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:143141091C>T uc011ktg.1 + 1 546 c.546C>T c.(544-546)GGC>GGT p.G182G uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 182 Extracellular (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) ATGTCACTGGCGATAGCATAC 0.408 NaN 0 0 0 0.008291 0 11 226 CLN8 2055 broad.mit.edu 37 8 1728460 1728460 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:1728460G>A uc003wpo.3 + 3 893 c.588G>A c.(586-588)CTG>CTA p.L196L NM_018941 NP_061764 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 196 TLC. cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) ACCAGTGGCTGATGATTCACA 0.517 NaN 0 0 0 0.007413 0 19 54 MCPH1 79648 broad.mit.edu 37 8 6312749 6312749 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:6312749G>C uc003wqi.2 + 9 1979 c.1911G>C c.(1909-1911)TTG>TTC p.L637F NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 637 microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) ATGAGGAATTGAAGAAAAGTG 0.368 NaN 0 0 0 0.002299 0 24 106 C8orf74 203076 broad.mit.edu 37 8 10555323 10555323 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:10555323G>A uc003wtd.1 + 3 485 c.456G>A c.(454-456)CCG>CCA p.P152P C8orf74_uc003wte.1_RNA NM_001040032 NP_001035121 Q6P047 CH074_HUMAN hypothetical protein LOC203076 152 0 COAD - Colon adenocarcinoma(149;0.0811) ATCCCCTCCCGCTGGCCGAGG 0.652 NaN 0 0 0 0.008871 0 17 36 UNC5D 137970 broad.mit.edu 37 8 35541109 35541109 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:35541109C>T uc003xjr.1 + 5 943 c.615C>T c.(613-615)GAC>GAT p.D205D UNC5D_uc003xjs.1_Silent_p.D200D|UNC5D_uc003xjt.1_Translation_Start_Site NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 205 Extracellular (Potential).|Ig-like C2-type. 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) CTGAACAAGACGAGAACATTG 0.463 NaN 0 0 0 0.009096 0 3 27 ADAM2 2515 broad.mit.edu 37 8 39604118 39604118 + Nonsense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:39604118T>A uc003xnj.2 - 19 2122 c.2047A>T c.(2047-2049)AAA>TAA p.K683* ADAM2_uc003xnk.2_Nonsense_Mutation_p.K664*|ADAM2_uc011lck.1_Nonsense_Mutation_p.K620*|ADAM2_uc003xnl.2_Nonsense_Mutation_p.K527* NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 683 Extracellular (Potential). cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTCATTGGTTTGGAATGGTAA 0.294 NaN 0 0 0 0.00499 0 17 106 CHRNB3 1142 broad.mit.edu 37 8 42585836 42585836 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:42585836C>A uc003xpi.1 + 4 477 c.349C>A c.(349-351)CTC>ATC p.L117I NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 117 Extracellular (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TGACATAGTTCTCTTTGAAAA 0.299 NaN 1 0 9.31168e-06 0.001855 9.80424e-06 14 34 EFCAB1 79645 broad.mit.edu 37 8 49642408 49642408 + Missense_Mutation SNP C C G rs145734570 byFrequency TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:49642408C>G uc003xqo.2 - 4 502 c.342G>C c.(340-342)TTG>TTC p.L114F EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.L62F|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron NM_024593 NP_078869 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 isoform a 114 2 (Potential).|EF-hand 2. calcium ion binding 0 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) CGTCACCATTCAAATCAAACA 0.348 NaN 0 0 0 0.000602 0 5 56 TGS1 96764 broad.mit.edu 37 8 56698335 56698335 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:56698335A>T uc003xsj.3 + 3 611 c.224A>T c.(223-225)CAT>CTT p.H75L TGS1_uc010lyh.2_5'UTR NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 75 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) GCAGAATCACATGACAGCAAA 0.413 NaN 0 0 0 0.009535 0 31 55 TGS1 96764 broad.mit.edu 37 8 56715061 56715061 + Missense_Mutation SNP A A C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:56715061A>C uc003xsj.3 + 9 2282 c.1895A>C c.(1894-1896)AAT>ACT p.N632T TGS1_uc010lyh.2_Missense_Mutation_p.N536T NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 632 Sufficient for catalytic activity. cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) aaaaagGTGAATGGTCTGCCT 0.338 NaN 0 0 0 0.008291 0 11 49 OSR2 116039 broad.mit.edu 37 8 99961627 99961627 + Silent SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:99961627C>A uc003yir.2 + 2 982 c.447C>A c.(445-447)GGC>GGA p.G149G OSR2_uc010mbn.2_Silent_p.G149G|OSR2_uc003yiq.2_Silent_p.G149G|OSR2_uc011lgx.1_Silent_p.G270G NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 149 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CCATCTCGGGCCTCAGTAAAT 0.532 NaN 1 0 0.00316338 0.003163 0.0032251 14 218 ATP6V1C1 528 broad.mit.edu 37 8 104054610 104054610 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:104054610G>C uc003ykz.3 + 3 420 c.175G>C c.(175-177)GCT>CCT p.A59P ATP6V1C1_uc010mbz.2_5'UTR|ATP6V1C1_uc003yla.2_Missense_Mutation_p.A59P|ATP6V1C1_uc011lhl.1_Intron NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 59 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) AGATGAACTGGCTAAACTGGA 0.368 NaN 0 0 0 0.004482 0 8 192 PKHD1L1 93035 broad.mit.edu 37 8 110412320 110412320 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:110412320A>G uc003yne.2 + 13 1132 c.1028A>G c.(1027-1029)AAG>AGG p.K343R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 343 Extracellular (Potential).|IPT/TIG 3. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGAGGCCTGAAGCTTGAGGTG 0.408 NaN HNSCC(38;0.096) 0 0 0 0.001168 0 6 172 CSMD3 114788 broad.mit.edu 37 8 113358347 113358347 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:113358347T>G uc003ynu.2 - 41 6580 c.6421A>C c.(6421-6423)ATA>CTA p.I2141L CSMD3_uc003yns.2_Missense_Mutation_p.I1343L|CSMD3_uc003ynt.2_Missense_Mutation_p.I2101L|CSMD3_uc011lhx.1_Missense_Mutation_p.I2037L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2141 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGTAGATTTATTGTCCATGTG 0.383 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.00361 0 45 167 TRPS1 7227 broad.mit.edu 37 8 116599614 116599614 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:116599614G>C uc003ynz.2 - 4 2734 c.2275C>G c.(2275-2277)CCA>GCA p.P759A TRPS1_uc011lhy.1_Missense_Mutation_p.P763A|TRPS1_uc003yny.2_Missense_Mutation_p.P772A|TRPS1_uc010mcy.2_Missense_Mutation_p.P759A NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 759 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCAGAAACTGGCTCTCCCATT 0.493 NaN Langer-Giedion_syndrome 0 0 0 0.004878 0 35 439 HSF1 3297 broad.mit.edu 37 8 145535686 145535686 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:145535686G>C uc003zbt.3 + 9 1068 c.898G>C c.(898-900)GAG>CAG p.E300Q HSF1_uc003zbu.3_RNA NM_005526 NP_005517 Q00613 HSF1_HUMAN heat shock transcription factor 1 300 Regulatory domain. E->A: Derepression of transcriptional activity at control temperature by 11%. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TGTCAAGGAGGAGCCCCCCAG 0.701 NaN 0 0 0 0.000602 0 5 13 KIFC2 90990 broad.mit.edu 37 8 145693255 145693255 + Nonsense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:145693255C>G uc003zcz.2 + 7 760 c.695C>G c.(694-696)TCA>TGA p.S232* CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 232 Potential.|Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCGACGGACTCAGAGAAAAGG 0.667 NaN OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 4 59 ZNF16 7564 broad.mit.edu 37 8 146157055 146157055 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:146157055C>A uc003zet.2 - 4 1305 c.1118G>T c.(1117-1119)GGA>GTA p.G373V ZNF16_uc003zeu.2_Missense_Mutation_p.G373V NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) AGGCTTCTCTCCTGTGTGAGT 0.532 NaN 1 0 0.00909568 0.009096 0.00918356 4 115 MLLT3 4300 broad.mit.edu 37 9 20620762 20620762 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:20620762G>A uc003zoe.2 - 2 343 c.84C>T c.(82-84)TTC>TTT p.F28F MLLT3_uc011lne.1_5'UTR|MLLT3_uc011lnf.1_Silent_p.F25F|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_5'UTR NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 28 YEATS. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) AGTCGTGGGTGAAGCCCTCCA 0.602 NaN T MLL ALL 0 0 0 0.00333 0 21 119 ZCCHC7 84186 broad.mit.edu 37 9 37126516 37126516 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:37126516G>C uc003zzq.2 + 2 360 c.187G>C c.(187-189)GAA>CAA p.E63Q ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.E62Q|ZCCHC7_uc010mlt.2_Missense_Mutation_p.E62Q|ZCCHC7_uc003zzs.1_Missense_Mutation_p.E62Q NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 63 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) TGGGAATTCGGAATCTTCGAG 0.423 NaN 0 0 0 0.006214 0 10 226 VPS13A 23230 broad.mit.edu 37 9 79890500 79890500 + Silent SNP A A C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:79890500A>C uc004akr.2 + 25 2859 c.2599A>C c.(2599-2601)AGA>CGA p.R867R VPS13A_uc004akp.3_Silent_p.R867R|VPS13A_uc004akq.3_Silent_p.R867R|VPS13A_uc004aks.2_Silent_p.R867R NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 867 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TATTCGAACCAGAAAGTTACA 0.348 NaN 0 0 0 0.00632 0 30 170 CEP78 84131 broad.mit.edu 37 9 80881397 80881397 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:80881397C>G uc004akx.2 + 15 2113 c.1837C>G c.(1837-1839)CTC>GTC p.L613V CEP78_uc004aky.3_Missense_Mutation_p.L630V|CEP78_uc010mpp.2_Missense_Mutation_p.L614V|CEP78_uc004akz.1_Missense_Mutation_p.L101V NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b 613 G2/M transition of mitotic cell cycle centrosome|cytosol p.L613L(1) ovary(1) 1 TCCTTTGCCTCTCGACTCCTT 0.428 NaN 0 0 0 0.004482 0 8 62 FLJ46321 389763 broad.mit.edu 37 9 84608089 84608089 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:84608089A>G uc004amn.2 + 4 2751 c.2704A>G c.(2704-2706)ATG>GTG p.M902V NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 902 integral to membrane 0 CAAACAAAAGATGTTGGAAGC 0.433 NaN 0 0 0 0.000602 0 4 63 PTCH1 5727 broad.mit.edu 37 9 98239043 98239043 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:98239043C>G uc004avk.3 - 11 1788 c.1600G>C c.(1600-1602)GAG>CAG p.E534Q PTCH1_uc010mro.2_Missense_Mutation_p.E383Q|PTCH1_uc010mrp.2_Missense_Mutation_p.E383Q|PTCH1_uc010mrq.2_Missense_Mutation_p.E383Q|PTCH1_uc004avl.3_Missense_Mutation_p.E383Q|PTCH1_uc010mrr.2_Missense_Mutation_p.E468Q|PTCH1_uc004avm.3_Missense_Mutation_p.E533Q|PTCH1_uc010mrs.1_Missense_Mutation_p.E202Q NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 534 SSD.|Cytoplasmic (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TGCATTACCTCAAAAGGGATT 0.423 NaN Basal_Cell_Nevus_syndrome 0 0 0 0.000602 0 4 23 EPB41L4B 54566 broad.mit.edu 37 9 112018480 112018480 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:112018480G>C uc004bdz.1 - 9 1160 c.865C>G c.(865-867)CTT>GTT p.L289V EPB41L4B_uc004bea.2_Missense_Mutation_p.L289V NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 289 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 GTCAGTCCAAGAGAATATTCA 0.368 NaN 0 0 0 0.002836 0 30 159 PTPN3 5774 broad.mit.edu 37 9 112185044 112185044 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:112185044C>G uc004bed.2 - 13 1202 c.1090G>C c.(1090-1092)GAA>CAA p.E364Q PTPN3_uc004beb.2_Missense_Mutation_p.E233Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.E77Q|PTPN3_uc011lwf.1_Intron NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 364 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 CTCTTGGTTTCTAAGTGCTCC 0.448 NaN 0 0 0 0.001168 0 5 212 SVEP1 79987 broad.mit.edu 37 9 113198707 113198707 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:113198707A>T uc010mtz.2 - 28 5054 c.4717T>A c.(4717-4719)TCC>ACC p.S1573T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1573 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TGGCTTATGGAGCCCACAAAA 0.473 NaN 0 0 0 0.009096 0 4 104 DFNB31 25861 broad.mit.edu 37 9 117240927 117240927 + Missense_Mutation SNP G G A rs141863996 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:117240927G>A uc004biz.3 - 2 1392 c.743C>T c.(742-744)TCG>TTG p.S248L DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.S248L|DFNB31_uc004bjb.2_Missense_Mutation_p.S248L NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 248 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 GGGCAGGCCCGAGGGTGGGGA 0.662 NaN 0 0 0 0.008291 0 7 11 PAPPA 5069 broad.mit.edu 37 9 118949701 118949701 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:118949701C>G uc004bjn.2 + 2 1065 c.684C>G c.(682-684)TTC>TTG p.F228L PAPPA_uc011lxp.1_Missense_Mutation_p.F21L|PAPPA_uc011lxq.1_Missense_Mutation_p.F21L NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 228 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GTGGCATATTCAGCCCACTGA 0.547 NaN 0 0 0 0.003163 0 16 60 C5 727 broad.mit.edu 37 9 123716141 123716141 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:123716141C>T uc004bkv.2 - 40 4798 c.4768G>A c.(4768-4770)GCT>ACT p.A1590T NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 1590 NTR. activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TCAGCAACAGCTTCCCCTGAG 0.383 NaN 0 0 0 0.00278 0 21 100 CIZ1 25792 broad.mit.edu 37 9 130940682 130940682 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:130940682C>G uc004btt.2 - 9 1749 c.1586G>C c.(1585-1587)GGA>GCA p.G529A CIZ1_uc004btr.2_Missense_Mutation_p.G501A|CIZ1_uc004bts.2_Missense_Mutation_p.G500A|CIZ1_uc011maq.1_Missense_Mutation_p.G468A|CIZ1_uc004btu.2_Missense_Mutation_p.G449A|CIZ1_uc011mar.1_Missense_Mutation_p.G428A|CIZ1_uc011mas.1_Missense_Mutation_p.G559A|CIZ1_uc004btw.2_Missense_Mutation_p.G473A|CIZ1_uc004btv.2_Missense_Mutation_p.G529A NM_001131016 NP_001124488 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 isoform 529 nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 TTCACATTCTCCCACATCTAG 0.562 NaN 0 0 0 0.00499 0 13 168 LAMC3 10319 broad.mit.edu 37 9 133927972 133927972 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:133927972G>C uc004caa.1 + 10 1823 c.1725G>C c.(1723-1725)CTG>CTC p.L575L NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 575 Laminin IV type A. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTGTACAGCTGAGGCTGGAAG 0.642 NaN OREG0019556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00499 0 12 53 SETX 23064 broad.mit.edu 37 9 135204838 135204838 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:135204838T>C uc004cbk.2 - 10 2330 c.2147A>G c.(2146-2148)AAA>AGA p.K716R SETX_uc004cbj.2_Missense_Mutation_p.K335R|SETX_uc010mzt.2_Missense_Mutation_p.K335R NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 716 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGAGATCTCTTTTACAGACTT 0.363 NaN 0 0 0 0.00361 0 66 173 C9orf98 158067 broad.mit.edu 37 9 135601228 135601228 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:135601228G>C uc004cbu.1 - 13 1843 c.1287C>G c.(1285-1287)GTC>GTG p.V429V C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Silent_p.V225V NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 429 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) TTTTCAGCTTGACCTGCTCTT 0.552 NaN 0 0 0 0.004672 0 3 10 C9orf98 158067 broad.mit.edu 37 9 135702366 135702366 + Nonsense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:135702366G>C uc004cbu.1 - 8 1188 c.632C>G c.(631-633)TCA>TGA p.S211* C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Nonsense_Mutation_p.S7* NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 211 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) CTCCAGCTCTGAGATGTCCTC 0.502 NaN 0 0 0 0.001168 0 5 287 FAM166A 401565 broad.mit.edu 37 9 140139656 140139656 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:140139656C>G uc004cmi.1 - 4 592 c.537G>C c.(535-537)CAG>CAC p.Q179H NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 179 ovary(1) 1 ACTCATCCCTCTGGCAGTGGT 0.667 NaN 0 0 0 0.001168 0 4 45 FAM166A 401565 broad.mit.edu 37 9 140139944 140139944 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:140139944C>G uc004cmi.1 - 3 392 c.337G>C c.(337-339)GAG>CAG p.E113Q NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 113 ovary(1) 1 CCTGGCGGCTCCTGGGCGTCC 0.627 NaN 0 0 0 0.004007 0 14 91 CACNA1B 774 broad.mit.edu 37 9 140907677 140907677 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:140907677T>G uc004cog.2 + 18 2402 c.2257T>G c.(2257-2259)TCC>GCC p.S753A CACNA1B_uc011mfd.1_Missense_Mutation_p.S284A NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 753 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGCGAACATCTCCATCGCCGC 0.602 NaN 0 0 0 0.006214 0 7 26 TLR8 51311 broad.mit.edu 37 X 12939592 12939592 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:12939592G>A uc004cve.2 + 2 2501 c.2433G>A c.(2431-2433)GGG>GGA p.G811G TLR8_uc004cvd.2_Silent_p.G829G NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 811 Extracellular (Potential).|LRRCT. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 ATCAAAGAGGGAAGAGTATTG 0.418 NaN 0 0 0 0.002096 0 30 186 BMX 660 broad.mit.edu 37 X 15534291 15534291 + Missense_Mutation SNP G G T rs67912403 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:15534291G>T uc004cww.2 + 5 570 c.382G>T c.(382-384)GGG>TGG p.G128W BMX_uc004cwx.3_Missense_Mutation_p.G128W|BMX_uc004cwy.3_Missense_Mutation_p.G128W NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 128 Btk-type. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) CTTCGTGGACGGGAAGTTCCT 0.517 NaN 1 0 4.3838e-07 0.001855 4.65083e-07 12 306 FAM48B1 100130302 broad.mit.edu 37 X 24383471 24383471 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:24383471C>G uc011mjx.1 + 1 2594 c.2594C>G c.(2593-2595)CCA>CGA p.P865R NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 CAGCCACATCCAGGTGTGCAA 0.542 NaN 0 0 0 0.003163 0 14 84 TSPAN7 7102 broad.mit.edu 37 X 38534989 38534989 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:38534989A>T uc004deg.3 + 5 541 c.472A>T c.(472-474)AAC>TAC p.N158Y TSPAN7_uc011mkj.1_Missense_Mutation_p.N184Y|TSPAN7_uc011mkk.1_Missense_Mutation_p.N175Y|TSPAN7_uc004deh.2_Missense_Mutation_p.N66Y NM_004615 NP_004606 P41732 TSN7_HUMAN tetraspanin 7 158 Extracellular (Potential). interspecies interaction between organisms integral to plasma membrane ovary(1) 1 GAACTACACCAACTGGAGCAC 0.483 NaN 0 0 0 0.002299 0 23 50 CXorf38 159013 broad.mit.edu 37 X 40496396 40496396 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:40496396G>A uc004dew.2 - 4 489 c.484C>T c.(484-486)CGT>TGT p.R162C CXorf38_uc011mko.1_Missense_Mutation_p.R77C|CXorf38_uc004dev.1_Missense_Mutation_p.R43C|CXorf38_uc010nhd.2_RNA NM_144970 NP_659407 Q8TB03 CX038_HUMAN hypothetical protein LOC159013 162 ovary(1) 1 ATCTCATTACGACATTTAATT 0.338 NaN 0 0 0 0.001168 0 5 91 HDAC6 10013 broad.mit.edu 37 X 48666514 48666514 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:48666514G>T uc011mmi.1 + 9 802 c.707G>T c.(706-708)CGC>CTC p.R236L HDAC6_uc004dks.1_Missense_Mutation_p.R236L|HDAC6_uc010nig.1_Missense_Mutation_p.R84L|HDAC6_uc004dkt.1_Missense_Mutation_p.R236L|HDAC6_uc011mmj.1_Missense_Mutation_p.R181L|HDAC6_uc011mmk.1_Missense_Mutation_p.R217L NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 236 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) GTGGCAGCCCGCTATGCTCAA 0.582 NaN 1 0 0.000274275 0.004482 0.000283079 5 10 PAGE1 8712 broad.mit.edu 37 X 49454135 49454135 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:49454135C>T uc004dom.2 - 5 437 c.304G>A c.(304-306)GAA>AAA p.E102K NM_003785 NP_003776 O75459 GAGB1_HUMAN P antigen family, member 1 102 cellular defense response skin(1) 1 Ovarian(276;0.236) CTATCCGCTTCAGGCTCTGGC 0.338 NaN 0 0 0 0.003755 0 29 72 TRO 7216 broad.mit.edu 37 X 54949137 54949137 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:54949137A>G uc004dtq.2 + 3 279 c.172A>G c.(172-174)ATG>GTG p.M58V TRO_uc011moj.1_Missense_Mutation_p.M1V|TRO_uc004dts.2_Missense_Mutation_p.M58V|TRO_uc004dtr.2_Missense_Mutation_p.M58V|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 58 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CTCCCTGGCCATGGACCCACC 0.557 NaN 0 0 0 0.00499 0 17 22 TAF1 6872 broad.mit.edu 37 X 70601652 70601652 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:70601652G>C uc004dzu.3 + 9 1468 c.1417G>C c.(1417-1419)GAG>CAG p.E473Q BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E494Q NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 473 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) CATTGACAATGAGGATCTGGT 0.453 NaN 0 0 0 0.001168 0 5 216 PAK3 5063 broad.mit.edu 37 X 110435399 110435399 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:110435399A>G uc004epa.2 + 9 947 c.920A>G c.(919-921)CAA>CGA p.Q307R PAK3_uc010npt.1_Missense_Mutation_p.Q292R|PAK3_uc010npu.1_Missense_Mutation_p.Q292R|PAK3_uc004eoy.1_Missense_Mutation_p.Q47R|PAK3_uc004eoz.2_Missense_Mutation_p.Q292R|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.Q328R|PAK3_uc010npw.1_Missense_Mutation_p.Q313R NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 307 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 GCAACAGGACAAGAGGTAAGT 0.333 NaN TSP Lung(19;0.15) 0 0 0 0.001984 0 7 173 MCTS1 28985 broad.mit.edu 37 X 119742109 119742109 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:119742109G>C uc004esx.2 + 4 640 c.292G>C c.(292-294)GAT>CAT p.D98H MCTS1_uc011mub.1_Missense_Mutation_p.D99H NM_014060 NP_054779 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 isoform 1 98 PUA. cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding 0 CCAGCAGGTTGATAAAGGAGC 0.308 NaN 0 0 0 0.001368 0 12 101 FAM127B 26071 broad.mit.edu 37 X 134185976 134185976 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:134185976C>T uc004eyf.2 - 1 246 c.163G>A c.(163-165)GAG>AAG p.E55K FAM127B_uc004eyg.3_Missense_Mutation_p.E55K NM_001078172 NP_001071640 Q9BWD3 F127B_HUMAN family with sequence similarity 127, member B 55 0 Acute lymphoblastic leukemia(192;0.000127) AACGTGTTCTCGTCCACGAAC 0.597 NaN 0 0 0 0.001168 0 6 90 GPR112 139378 broad.mit.edu 37 X 135429691 135429691 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:135429691G>C uc004ezu.1 + 6 4117 c.3826G>C c.(3826-3828)GAA>CAA p.E1276Q GPR112_uc010nsb.1_Missense_Mutation_p.E1071Q|GPR112_uc010nsc.1_Missense_Mutation_p.E1043Q NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1276 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GGAGGTGACAGAAATGTCCCC 0.438 NaN 0 0 0 0.00361 0 59 117 GPR101 83550 broad.mit.edu 37 X 136112838 136112838 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:136112838C>A uc011mwh.1 - 1 996 c.996G>T c.(994-996)ATG>ATT p.M332I NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 332 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) TGTCTGCCTTCATGCTGTTCT 0.557 NaN 1 0 4.44401e-20 0.002522 4.94042e-20 46 304 F9 2158 broad.mit.edu 37 X 138612920 138612920 + Translation_Start_Site SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:138612920G>T uc004fas.1 + 1 26 c.-3G>T c.(-5--1)AAGGT>AATGT F9_uc004fat.1_Translation_Start_Site NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGCTAGCAAAGGTTATGCAGC 0.433 NaN 1 0 2.0095e-06 0.001984 2.12114e-06 6 128 MAGEA6 4105 broad.mit.edu 37 X 151870004 151870004 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:151870004G>C uc004ffq.1 + 3 888 c.694G>C c.(694-696)GAG>CAG p.E232Q MAGEA6_uc004ffr.1_Missense_Mutation_p.E232Q|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 232 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGTGTTTGAGGGGAGGGA 0.537 NaN 0 0 0 0.00361 0 76 203 L1CAM 3897 broad.mit.edu 37 X 153128148 153128148 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:153128148G>A uc004fjb.2 - 28 3852 c.3744C>T c.(3742-3744)TCC>TCT p.S1248S L1CAM_uc004fjc.2_Silent_p.S1244S|L1CAM_uc010nuo.2_Silent_p.S1239S NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 1248 Cytoplasmic (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTTGATGGGGGAAGTGGCCC 0.607 NaN 0 0 0 0.009096 0 4 59 MTCP1NB 100272147 broad.mit.edu 37 X 154292253 154292253 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:154292253T>G uc004fmy.2 - 2 635 c.46A>C c.(46-48)AAA>CAA p.K16Q NM_001018024 NP_001018024 P56277 MTCNB_HUMAN mature T-cell proliferation 1 neighbor 16 cell proliferation mitochondrion lung(1) 1 TGTAAACATTTCTGTATCTCA 0.299 NaN 0 0 0 0.010504 0 21 285 STIL 6491 broad.mit.edu 37 1 47716998 47717011 + Frame_Shift_Del DEL CTTGGTTTAAGGTT CTTGGTTTAAGGTT - TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:47716998_47717011delCTTGGTTTAAGGTT uc001crc.1 - 17 3816_3829 c.3661_3674delAACCTTAAACCAAG c.(3661-3675)AACCTTAAACCAAGTfs p.N1221fs TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.N1175fs|STIL_uc010omo.1_Frame_Shift_Del_p.N1204fs|STIL_uc001crd.1_Frame_Shift_Del_p.N1222fs|STIL_uc001cre.1_Frame_Shift_Del_p.N1221fs NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 1221_1225 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CACTGCAGGACTTGGTTTAAGGTTCTTTACTAAG 0.402 NaN NaN NaN NaN NaN NaN 19 335 --- --- OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:248801602_248801603insCA uc001ies.1 - 1 957_958 c.957_958insTG c.(955-960)GTGATCfs p.V319fs NM_001001827 NP_001001827 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, 319_320 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 NaN NaN NaN NaN NaN NaN 2 4 --- --- DHTKD1 55526 broad.mit.edu 37 10 12160750 12160750 + Frame_Shift_Del DEL T T - TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:12160750delT uc001ild.3 + 15 2504 c.2405delT c.(2404-2406)GTTfs p.V802fs NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 802 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TCCAACAGGGTTAAGACCCTC 0.378 NaN NaN NaN NaN NaN NaN 22 543 --- --- TIGD3 220359 broad.mit.edu 37 11 65124558 65124558 + Frame_Shift_Del DEL C C - TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:65124558delC uc001odo.3 + 2 1442 c.1279delC c.(1279-1281)CCCfs p.P427fs NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 427 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 TGCCTTTGAGCCCCTGCCCAC 0.562 NaN NaN NaN NaN NaN NaN 48 34 --- --- C12orf35 55196 broad.mit.edu 37 12 32136793 32136794 + Frame_Shift_Ins INS - - C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:32136793_32136794insC uc001rks.2 + 4 3318_3319 c.2904_2905insC c.(2902-2907)AAAATAfs p.K968fs NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 968_969 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TTTCACATAAAATATGTGATCA 0.351 NaN NaN NaN NaN NaN NaN 10 115 --- --- GHDC 84514 broad.mit.edu 37 17 40342704 40342704 + Frame_Shift_Del DEL G G - TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:40342704delG uc002hzd.2 - 7 1710 c.1226delC c.(1225-1227)GCAfs p.A409fs GHDC_uc002hzg.1_Frame_Shift_Del_p.A409fs|GHDC_uc010wgg.1_Frame_Shift_Del_p.A370fs|GHDC_uc002hze.3_Frame_Shift_Del_p.A409fs|GHDC_uc002hzf.3_Frame_Shift_Del_p.A409fs NM_032484 NP_115873 Q8N2G8 GHDC_HUMAN LGP1 homolog isoform 1 409 endoplasmic reticulum|nuclear envelope 0 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CTGCCCCACTGCCCGGCCCAG 0.637 NaN NaN NaN NaN NaN NaN 20 22 --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:115202418_115202421delAAGA uc003krl.2 + 2 237_240 c.121_124delAAGA c.(121-126)AAGAGAfs p.K41fs AP3S1_uc003krk.2_Frame_Shift_Del_p.K19fs|AP3S1_uc003krm.2_Frame_Shift_Del_p.K41fs NM_001284 NP_001275 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 41_42 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity 0 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 NaN NaN NaN NaN NaN NaN 9 77 --- --- KDM6A 7403 broad.mit.edu 37 X 44941860 44941861 + Frame_Shift_Ins INS - - A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 - A - - Valid Somatic Phase_I WXS RNASeq Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:44941860_44941861insA uc004dge.3 + 21 3559_3560 c.3184_3185insA c.(3184-3186)GATfs p.D1062fs KDM6A_uc011mkz.1_Frame_Shift_Ins_p.D1114fs|KDM6A_uc011mla.1_Frame_Shift_Ins_p.D1017fs|KDM6A_uc011mlb.1_Frame_Shift_Ins_p.D1069fs|KDM6A_uc011mlc.1_Frame_Shift_Ins_p.D766fs|KDM6A_uc011mld.1_Frame_Shift_Ins_p.D701fs NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1062 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 AGACCACTCAGATAGTGAATCT 0.317 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 44 95 --- ---