Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MST1P9 11223 broad.mit.edu 37 1 17084269 17084269 + Missense_Mutation SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr1:17084269G>A uc010ock.1 - 13 1748 c.1748C>T c.(1747-1749)GCA>GTA p.A583V CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.A183V NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 ACCCCAGCCTGCAATCTCACA 0.582 NA 7 700 0 0 0.001984 0 0 SLC6A9 6536 broad.mit.edu 37 1 44474144 44474144 + Silent SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr1:44474144G>A uc001cll.2 - 5 882 c.690C>T c.(688-690)GCC>GCT p.A230A SLC6A9_uc009vxe.2_Silent_p.A86A|SLC6A9_uc010okm.1_Silent_p.A157A|SLC6A9_uc001clm.2_Silent_p.A176A|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.A161A|SLC6A9_uc001cln.2_Silent_p.A157A|SLC6A9_uc010oko.1_Silent_p.A46A|SLC6A9_uc010okp.1_RNA NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 230 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) CCAGTACACCGGCGCAGTCAT 0.607 NA 21 170 0 0 0.002299 0 0 FAM5C 339479 broad.mit.edu 37 1 190067976 190067976 + Silent SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr1:190067976G>A uc001gse.1 - 8 1705 c.1473C>T c.(1471-1473)GAC>GAT p.D491D FAM5C_uc010pot.1_Silent_p.D389D NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 491 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GATCTTGCAGGTCAGTTTCAA 0.517 NA 33 316 0 0 0.002836 0 0 FAM58B 339521 broad.mit.edu 37 1 200182895 200182895 + Silent SNP G G T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr1:200182895G>T uc009wzi.1 + 1 240 c.204G>T c.(202-204)CTG>CTT p.L68L NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 68 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) AGACCATCCTGGACGCCTTTG 0.527 NA 12 305 0.000978159 0.00119412 0.000978 1 0 C1orf106 55765 broad.mit.edu 37 1 200868613 200868613 + Missense_Mutation SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr1:200868613C>T uc001gvo.2 + 3 353 c.323C>T c.(322-324)CCG>CTG p.P108L C1orf106_uc010ppm.1_Missense_Mutation_p.P23L NM_018265 NP_060735 Q3KP66 CA106_HUMAN hypothetical protein LOC55765 isoform 1 108 skin(2)|ovary(1) 3 CCCGACAGCCCGGTCTCCCCA 0.612 NA 17 99 0 0 0.006122 0 0 DUSP10 11221 broad.mit.edu 37 1 221875902 221875902 + Missense_Mutation SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr1:221875902G>A uc001hmy.1 - 4 1483 c.1301C>T c.(1300-1302)GCT>GTT p.A434V DUSP10_uc001hmx.1_Missense_Mutation_p.A92V|DUSP10_uc001hmz.1_Missense_Mutation_p.A92V NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 434 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) AAATTTATAAGCATCAGTCAT 0.507 NA 16 149 0 0 0.004007 0 0 OR6F1 343169 broad.mit.edu 37 1 247875225 247875225 + Missense_Mutation SNP T T A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr1:247875225T>A uc001idj.1 - 1 833 c.833A>T c.(832-834)AAC>ATC p.N278I NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CACCACAGTGTTCAGGACGTG 0.458 NA 31 162 0 0 0.002445 0 0 LARP4B 23185 broad.mit.edu 37 10 876909 876909 + Missense_Mutation SNP T T G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr10:876909T>G uc001ifs.1 - 8 800 c.759A>C c.(757-759)GAA>GAC p.E253D NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 253 RRM. nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 TAAATAGTGCTTCTACTTCCT 0.284 NA 3 37 0 0 0.004672 0 0 ZNF408 79797 broad.mit.edu 37 11 46726804 46726804 + Silent SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr11:46726804C>T uc001nde.1 + 5 1784 c.1554C>T c.(1552-1554)CAC>CAT p.H518H ZNF408_uc010rgw.1_Silent_p.H510H NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 518 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 TGCGGCTCCACACCGGGGAGC 0.642 Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525) NA 14 131 0 0 0.003163 0 0 AHNAK 79026 broad.mit.edu 37 11 62289394 62289394 + Silent SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr11:62289394G>A uc001ntl.2 - 5 12795 c.12495C>T c.(12493-12495)ATC>ATT p.I4165I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4165 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGGGCCCTTGATGTCAACTT 0.512 NA 42 287 0 0 0.006999 0 0 TECTA 7007 broad.mit.edu 37 11 120996044 120996044 + Missense_Mutation SNP T T G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr11:120996044T>G uc010rzo.1 + 7 1237 c.1237T>G c.(1237-1239)TTA>GTA p.L413V NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 413 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCCTGTCACCTTAGACTTGGG 0.498 NA 42 355 0 0 0.00874 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769453 13769453 + Missense_Mutation SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr12:13769453C>T uc001rbt.2 - 5 1443 c.1264G>A c.(1264-1266)GTG>ATG p.V422M NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 422 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGAGGGTCCACACTTTCCACA 0.527 NA 5 142 0 0 0.001168 0 0 ACVR1B 91 broad.mit.edu 37 12 52377803 52377803 + Missense_Mutation SNP C C G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr12:52377803C>G uc001rzn.2 + 5 874 c.832C>G c.(832-834)CTG>GTG p.L278V ACVR1B_uc001rzl.2_Missense_Mutation_p.L278V|ACVR1B_uc001rzm.2_Missense_Mutation_p.L278V|ACVR1B_uc010snn.1_Missense_Mutation_p.L319V NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 278 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CTGGACACAGCTGTGGCTTGT 0.463 NA 4 37 0 0 0.00308 0 0 PTPRB 5787 broad.mit.edu 37 12 70938424 70938424 + Missense_Mutation SNP T T C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr12:70938424T>C uc001swb.3 - 20 4783 c.4753A>G c.(4753-4755)ACA>GCA p.T1585A PTPRB_uc010sto.1_Missense_Mutation_p.T1495A|PTPRB_uc010stp.1_Missense_Mutation_p.T1495A|PTPRB_uc001swc.3_Missense_Mutation_p.T1803A|PTPRB_uc001swa.3_Missense_Mutation_p.T1715A NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1585 Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AAGAGCTGTGTAAAAGCTCGA 0.358 NA 4 29 0 0 0.000602 0 0 CEP290 80184 broad.mit.edu 37 12 88486598 88486598 + Silent SNP G G T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr12:88486598G>T uc001tar.2 - 29 3665 c.3321C>A c.(3319-3321)ATC>ATA p.I1107I CEP290_uc001taq.2_Silent_p.I167I NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1107 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.I1109I(1) ovary(5)|breast(1)|pancreas(1) 7 CATCCAAATTGATTTTGGTAA 0.353 NA 18 94 1.2644e-06 1.674e-06 0.001523 1 0 FAM179B 23116 broad.mit.edu 37 14 45433195 45433195 + Missense_Mutation SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr14:45433195G>A uc001wvv.2 + 1 1780 c.1571G>A c.(1570-1572)CGC>CAC p.R524H FAM179B_uc001wvw.2_Missense_Mutation_p.R524H|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R524H|FAM179B_uc001wvu.2_Missense_Mutation_p.R524H NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 524 HEAT 4. binding skin(2)|upper_aerodigestive_tract(1) 3 GATAGCAAACGCAGGGTACGC 0.463 NA 5 175 0 0 0.000602 0 0 PPIB 5479 broad.mit.edu 37 15 64455120 64455120 + Silent SNP G G C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr15:64455120G>C uc002and.2 - 1 235 c.66C>G c.(64-66)GTC>GTG p.V22V PPIB_uc010bgx.1_Silent_p.V14V NM_000942 NP_000933 P23284 PPIB_HUMAN peptidylprolyl isomerase B precursor 22 protein folding endoplasmic reticulum lumen|melanosome peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding 0 L-Proline(DB00172) GCAGGAAGAAGACGGACCCCG 0.647 GBM(105;399 1481 32889 33051 36637) NA 4 39 0 0 0.000602 0 0 LCTL 197021 broad.mit.edu 37 15 66853375 66853375 + Missense_Mutation SNP C C A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr15:66853375C>A uc002aqc.2 - 6 806 c.674G>T c.(673-675)GGC>GTC p.G225V LCTL_uc002aqd.3_Missense_Mutation_p.G52V|LCTL_uc010bhw.2_Intron NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 225 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 CTTGTACAGGCCGGTGCCGCG 0.602 NA 9 111 9.31168e-06 1.16706e-05 0.001855 1 0 SNX33 257364 broad.mit.edu 37 15 75949488 75949488 + Missense_Mutation SNP C C A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr15:75949488C>A uc002bau.2 + 2 1753 c.1657C>A c.(1657-1659)CAG>AAG p.Q553K SNX33_uc002bav.2_Missense_Mutation_p.Q166K NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 553 BAR. cell communication phosphatidylinositol binding|protein binding ovary(1) 1 CTTGCGCCAGCAGATCCTCTT 0.627 NA 9 271 6.40141e-05 7.91753e-05 0.000978 1 0 KIAA1024 23251 broad.mit.edu 37 15 79749775 79749775 + Missense_Mutation SNP C C A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr15:79749775C>A uc002bew.1 + 2 1361 c.1286C>A c.(1285-1287)GCG>GAG p.A429E KIAA1024_uc010unk.1_Missense_Mutation_p.A429E NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 429 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 ATTGCTTATGCGGCAAAACAA 0.473 NA 21 154 3.28513e-13 4.5412e-13 0.003954 1 0 KIAA1199 57214 broad.mit.edu 37 15 81235319 81235319 + Missense_Mutation SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr15:81235319G>A uc002bfw.1 + 27 3993 c.3733G>A c.(3733-3735)GGC>AGC p.G1245S KIAA1199_uc010unn.1_Missense_Mutation_p.G1245S NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 1245 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TTCGGAGGATGGCATCCAGGT 0.582 NA 98 687 0 0 0.00361 0 0 FSD2 123722 broad.mit.edu 37 15 83451620 83451620 + Missense_Mutation SNP T T A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr15:83451620T>A uc002bjd.2 - 4 1060 c.893A>T c.(892-894)AAC>ATC p.N298I FSD2_uc010uol.1_Missense_Mutation_p.N298I|FSD2_uc010uom.1_Missense_Mutation_p.N298I NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 298 Potential. central_nervous_system(1) 1 AGTATCTAGGTTTTCTCCACA 0.378 NA 7 550 0 0 0.001984 0 0 ACAN 176 broad.mit.edu 37 15 89400783 89400783 + Missense_Mutation SNP T T A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr15:89400783T>A uc010upo.1 + 12 5341 c.4967T>A c.(4966-4968)TTC>TAC p.F1656Y ACAN_uc010upp.1_Missense_Mutation_p.F1656Y|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1656 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCATCTGGATTCCCAACTGTT 0.532 NA 7 402 0 0 0.00308 0 0 SLC5A2 6524 broad.mit.edu 37 16 31499014 31499014 + Silent SNP T T C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr16:31499014T>C uc002ecf.3 + 7 838 c.819T>C c.(817-819)GAT>GAC p.D273D SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 273 Helical; (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 TGACCGGGGATCTGCCGTGGC 0.672 NA 11 54 0 0 0.007413 0 0 C16orf58 64755 broad.mit.edu 37 16 31502241 31502241 + Missense_Mutation SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr16:31502241G>A uc002eci.1 - 13 1334 c.1322C>T c.(1321-1323)GCC>GTC p.A441V C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Missense_Mutation_p.A179V NM_022744 NP_073581 Q96GQ5 CP058_HUMAN hypothetical protein LOC64755 441 integral to membrane ovary(1)|breast(1) 2 CTTCCAGCCGGCATCCTGCAG 0.602 NA 4 123 0 0 0.000248 0 0 TRIM16 10626 broad.mit.edu 37 17 15535856 15535856 + Missense_Mutation SNP A A G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr17:15535856A>G uc002gox.2 - 7 1539 c.982T>C c.(982-984)TAT>CAT p.Y328H TRIM16_uc002gor.1_Missense_Mutation_p.Y328H|TRIM16_uc002gow.2_Missense_Mutation_p.Y112H|TRIM16_uc002goy.2_Missense_Mutation_p.Y198H NM_006470 NP_006461 O95361 TRI16_HUMAN tripartite motif-containing 16 328 Potential. histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid cytoplasm|plasma membrane|PML body DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding ovary(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) TTTTTCTTATAGTTCTCCAGC 0.468 NA 31 188 0 0 0.003271 0 0 SHMT1 6470 broad.mit.edu 37 17 18250892 18250892 + Missense_Mutation SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr17:18250892C>T uc002gta.2 - 5 627 c.437G>A c.(436-438)GGG>GAG p.G146E SHMT1_uc002gtb.2_Missense_Mutation_p.G146E|SHMT1_uc010cqb.2_Missense_Mutation_p.G146E|SHMT1_uc010vxt.1_Missense_Mutation_p.G8E|SHMT1_uc002gtd.1_Missense_Mutation_p.G146E|SHMT1_uc010vxu.1_Missense_Mutation_p.G146E NM_004169 NP_004160 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 146 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CAGGTGGCCCCCATCCGGAAG 0.537 NA 53 174 0 0 0.00361 0 0 STAT5A 6776 broad.mit.edu 37 17 40441527 40441527 + Missense_Mutation SNP A A T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr17:40441527A>T uc002hzj.1 + 3 740 c.98A>T c.(97-99)TAC>TTC p.Y33F STAT5A_uc010cya.1_Missense_Mutation_p.Y33F|STAT5A_uc010cyb.1_Missense_Mutation_p.Y33F|STAT5A_uc010cyc.1_Missense_Mutation_p.Y33F NM_003152 NP_003143 P42229 STA5A_HUMAN signal transducer and activator of transcription 33 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) GTCCGGCACTACTTGGCCCAG 0.652 NA 14 85 0 0 0.00499 0 0 MRPL10 124995 broad.mit.edu 37 17 45901636 45901636 + Missense_Mutation SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr17:45901636G>A uc002ilz.2 - 5 747 c.721C>T c.(721-723)CGC>TGC p.R241C OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Missense_Mutation_p.R202C|MRPL10_uc002ily.2_Missense_Mutation_p.R251C NM_145255 NP_660298 Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 precursor 241 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome ovary(1) 1 TCCTTCTCGCGTTGCTCTCTG 0.587 NA 9 115 0 0 0.004482 0 0 TTYH2 94015 broad.mit.edu 37 17 72248464 72248464 + Missense_Mutation SNP T T C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr17:72248464T>C uc002jkc.2 + 11 1239 c.1208T>C c.(1207-1209)TTC>TCC p.F403S TTYH2_uc010wqw.1_Missense_Mutation_p.F382S|TTYH2_uc002jkd.2_Missense_Mutation_p.F82S NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 403 Helical; Name=5; (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 GCCCTCGCCTTCTCCACCATG 0.617 NA 4 97 0 0 0.000248 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74625395 74625395 + Missense_Mutation SNP G G T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr17:74625395G>T uc002jsh.2 - 2 704 c.530C>A c.(529-531)TCC>TAC p.S177Y ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.S45Y|ST6GALNAC1_uc002jsj.2_RNA NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 177 Lumenal (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 CACCGTCCTGGAGGCCGTCAG 0.592 NA 13 382 4.93089e-13 6.71745e-13 0.00245 1 0 CDKN2D 1032 broad.mit.edu 37 19 10677773 10677773 + Silent SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr19:10677773G>A uc002mpa.2 - 2 764 c.462C>T c.(460-462)CTC>CTT p.L154L KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Silent_p.L154L NM_001800 NP_001791 P55273 CDN2D_HUMAN cyclin-dependent kinase inhibitor 2D 154 ANK 4. anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding 0 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) GGATGTCCACGAGGTCCTGAG 0.607 NA Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System 17 124 0 0 0.006122 0 0 EMR2 30817 broad.mit.edu 37 19 14866619 14866619 + Silent SNP C C A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr19:14866619C>A uc002mzp.1 - 13 1719 c.1263G>T c.(1261-1263)CTG>CTT p.L421L EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Silent_p.L421L|EMR2_uc002mzo.1_Silent_p.L410L|EMR2_uc002mzq.1_Silent_p.L361L|EMR2_uc002mzr.1_Silent_p.L372L|EMR2_uc002mzs.1_Silent_p.L279L|EMR2_uc002mzt.1_Silent_p.L317L|EMR2_uc002mzu.1_Silent_p.L328L|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 421 Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 TCTCAGGTTCCAGGACCAGAG 0.592 NA 11 80 3.07112e-06 3.90115e-06 0.000978 1 0 GMIP 51291 broad.mit.edu 37 19 19751158 19751158 + Missense_Mutation SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr19:19751158C>T uc002nnd.2 - 6 493 c.376G>A c.(376-378)GCT>ACT p.A126T GMIP_uc010xrb.1_Missense_Mutation_p.A126T|GMIP_uc010xrc.1_Missense_Mutation_p.A126T NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 126 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 GTGCTCTTAGCAAACTCCAGC 0.607 NA 31 174 0 0 0.002836 0 0 PLEKHF1 79156 broad.mit.edu 37 19 30164791 30164791 + Silent SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr19:30164791C>T uc002nsh.3 + 2 147 c.45C>T c.(43-45)ATC>ATT p.I15I PLEKHF1_uc002nsi.3_Silent_p.I100I NM_024310 NP_077286 Q96S99 PKHF1_HUMAN apoptosis-inducing protein D 15 apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding 0 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) GCCAGCGCATCGCGGCAGTGG 0.662 NA 16 78 0 0 0.001523 0 0 ATP1A3 478 broad.mit.edu 37 19 42472957 42472957 + Silent SNP C C T rs150417636 TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr19:42472957C>T uc002osg.2 - 20 2953 c.2799G>A c.(2797-2799)TCG>TCA p.S933S ATP1A3_uc010xwf.1_Silent_p.S944S|ATP1A3_uc010xwg.1_Silent_p.S903S|ATP1A3_uc010xwh.1_Silent_p.S946S|ATP1A3_uc002osh.2_Silent_p.S933S NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 933 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 GCTGGAAGACCGAGTTCCTCC 0.577 NA 16 89 0 0 0.006122 0 0 GPR4 2828 broad.mit.edu 37 19 46094725 46094725 + Missense_Mutation SNP C C A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr19:46094725C>A uc002pcm.2 - 2 1345 c.400G>T c.(400-402)GCC>TCC p.A134S OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 134 Helical; Name=4; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) ACGGCCACGGCGGTCTTGACG 0.662 Esophageal Squamous(117;181 1612 1673 14956 42937) NA 12 100 1.3612e-06 1.77713e-06 0.003163 1 0 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C C G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr2:114355998C>G uc002tkh.2 + 5 674 c.616C>G c.(616-618)CAC>GAC p.H206D WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA NM_182905 NP_878908 WAS protein family homolog 1 0 CCAAGGTGGGCACTTGATGTC 0.612 NA 3 13 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179413470 179413470 + Silent SNP T T C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr2:179413470T>C uc010zfg.1 - 288 85403 c.85179A>G c.(85177-85179)AAA>AAG p.K28393K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K22088K|TTN_uc010zfi.1_Silent_p.K22021K|TTN_uc010zfj.1_Silent_p.K21896K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29320 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) TAGAGTCTGGTTTGCTCCACA 0.463 NA 3 110 0 0 0.000248 0 0 RNF25 64320 broad.mit.edu 37 2 219529102 219529102 + Missense_Mutation SNP G G C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr2:219529102G>C uc002vit.2 - 10 1046 c.958C>G c.(958-960)CCA>GCA p.P320A RNF25_uc010fvw.2_Missense_Mutation_p.P208A NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 320 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGGTCCCTGGAATCTTCTCA 0.582 NA 3 211 0 0 0.004672 0 0 ZNF133 7692 broad.mit.edu 37 20 18295923 18295923 + Missense_Mutation SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr20:18295923C>T uc010gcq.2 + 5 733 c.428C>T c.(427-429)GCA>GTA p.A143V ZNF133_uc010zrv.1_Missense_Mutation_p.A146V|ZNF133_uc010zrw.1_Missense_Mutation_p.A80V|ZNF133_uc010gcr.2_Missense_Mutation_p.A143V|ZNF133_uc010zrx.1_Missense_Mutation_p.A48V|ZNF133_uc002wql.3_Missense_Mutation_p.A142V|ZNF133_uc010gcs.2_Missense_Mutation_p.A142V|ZNF133_uc010zry.1_Missense_Mutation_p.A48V|ZNF133_uc002wqm.2_Missense_Mutation_p.A143V NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 143 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 AGTGATCAAGCAGAAGGTCCT 0.587 NA 34 259 0 0 0.00623 0 0 APOL5 80831 broad.mit.edu 37 22 36122633 36122633 + Missense_Mutation SNP G G C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr22:36122633G>C uc003aof.2 + 3 518 c.518G>C c.(517-519)GGG>GCG p.G173A NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 173 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 TCAGCAACTGGGACAGGGTTG 0.547 NA 26 198 0 0 0.005443 0 0 DNAH1 25981 broad.mit.edu 37 3 52429049 52429049 + Missense_Mutation SNP C C G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr3:52429049C>G uc011bef.1 + 68 11203 c.10942C>G c.(10942-10944)CTG>GTG p.L3648V DNAH1_uc003ddv.2_Missense_Mutation_p.L506V NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3713 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGCCACCAACCTGGAGCCACG 0.617 NA 7 23 0 0 0.00308 0 0 STAG1 10274 broad.mit.edu 37 3 136342081 136342081 + Silent SNP A A G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr3:136342081A>G uc003era.1 - 3 331 c.39T>C c.(37-39)ACT>ACC p.T13T STAG1_uc003erb.1_Silent_p.T13T|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.2_Silent_p.T13T NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 13 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TAGTTTCATTAGTTGAATCCC 0.403 NA 3 109 0 0 0.004672 0 0 NLGN1 22871 broad.mit.edu 37 3 173997033 173997033 + Silent SNP T T C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr3:173997033T>C uc003fio.1 + 6 1665 c.1242T>C c.(1240-1242)GCT>GCC p.A414A NLGN1_uc010hww.1_Silent_p.A454A|NLGN1_uc003fip.1_Silent_p.A414A NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 431 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TTGACTTTGCTGTTTCAAATT 0.338 NA 6 51 0 0 0.001984 0 0 ABCF3 55324 broad.mit.edu 37 3 183909004 183909004 + Silent SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr3:183909004C>T uc003fmz.2 + 16 1663 c.1530C>T c.(1528-1530)CGC>CGT p.R510R ABCF3_uc003fna.2_Silent_p.R504R|ABCF3_uc003fnb.2_Silent_p.R191R NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 510 ABC transporter 2. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTTCAGTCGCCTCTCTGTGT 0.537 NA 43 253 0 0 0.00361 0 0 SDHAP2 727956 broad.mit.edu 37 3 195400795 195400795 + Missense_Mutation SNP C C T rs7615357 by1000genomes TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr3:195400795C>T uc003fuw.2 + 9 1285 c.91C>T c.(91-93)CGC>TGC p.R31C SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GGGGCAAACTCGCTGTTGGAC 0.592 NA 4 70 0 0 0.001168 0 0 SDHAP2 727956 broad.mit.edu 37 3 195400799 195400799 + Missense_Mutation SNP G G A rs7635172 by1000genomes TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr3:195400799G>A uc003fuw.2 + 9 1289 c.95G>A c.(94-96)TGT>TAT p.C32Y SDHAP2_uc011btb.1_Silent_p.L179L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 CAAACTCGCTGTTGGACCTGG 0.597 NA 4 72 0 0 0.001168 0 0 KIAA0922 23240 broad.mit.edu 37 4 154555427 154555427 + Missense_Mutation SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr4:154555427C>T uc003inm.3 + 33 4461 c.4409C>T c.(4408-4410)CCA>CTA p.P1470L KIAA0922_uc010ipp.2_Missense_Mutation_p.P1471L|KIAA0922_uc010ipq.2_Missense_Mutation_p.P1239L NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1470 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) AATGCCTTTCCAGAAGGTAAG 0.423 NA 17 139 0 0 0.007413 0 0 GPR98 84059 broad.mit.edu 37 5 90136558 90136558 + Missense_Mutation SNP C C G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr5:90136558C>G uc003kju.2 + 78 16871 c.16775C>G c.(16774-16776)CCT>CGT p.P5592R GPR98_uc003kjt.2_Missense_Mutation_p.P3298R|GPR98_uc003kjw.2_Missense_Mutation_p.P1253R NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5592 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AATTCATTTCCTAAACGCTTC 0.433 NA 15 146 0 0 0.006122 0 0 PITX1 5307 broad.mit.edu 37 5 134364489 134364489 + Missense_Mutation SNP C C T rs140746945 TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr5:134364489C>T uc010jea.2 - 3 1318 c.925G>A c.(925-927)GCG>ACG p.A309T PITX1_uc011cxy.1_Missense_Mutation_p.A309T NM_002653 NP_002644 P78337 PITX1_HUMAN paired-like homeodomain transcription factor 1 309 nucleolus sequence-specific DNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) TACTGGCACGCGTTGAGGCCC 0.393 NA 6 31 0 0 0.001168 0 0 PCDHA2 56146 broad.mit.edu 37 5 140174709 140174709 + Silent SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr5:140174709C>T uc003lhd.2 + 1 266 c.160C>T c.(160-162)CTG>TTG p.L54L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.L54L|PCDHA2_uc011czy.1_Silent_p.L54L NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 54 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCTGGGGCTGGAGCTGGA 0.647 NA 13 178 0 0 0.001368 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712646 140712646 + Missense_Mutation SNP G G C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr5:140712646G>C uc003lji.1 + 1 2395 c.2395G>C c.(2395-2397)GAA>CAA p.E799Q PCDHGA1_uc011dan.1_Missense_Mutation_p.E799Q NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 799 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTTTACTTGAAGACAAAAA 0.418 NA 7 145 0 0 0.001984 0 0 G3BP1 10146 broad.mit.edu 37 5 151166212 151166212 + Missense_Mutation SNP G G T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr5:151166212G>T uc003lun.2 + 2 202 c.31G>T c.(31-33)GTC>TTC p.V11F G3BP1_uc010jhy.1_Missense_Mutation_p.V11F|G3BP1_uc003lum.2_Missense_Mutation_p.V11F|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR|uc003luo.1_5'Flank|uc003lup.1_5'Flank NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 11 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) TCCCCTGCTGGTCGGGCGGGA 0.488 NA 24 130 3.08376e-08 4.14105e-08 0.00333 1 0 HIST1H1C 3006 broad.mit.edu 37 6 26056605 26056605 + Missense_Mutation SNP C C G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr6:26056605C>G uc003nfw.2 - 1 95 c.52G>C c.(52-54)GCC>CCC p.A18P NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 18 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 TTTACAGGGGCCTTCTCCGCA 0.617 NA 7 119 0 0 0.00308 0 0 ASL 435 broad.mit.edu 37 7 65546942 65546942 + Silent SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr7:65546942C>T uc003tuo.2 + 3 276 c.165C>T c.(163-165)CTC>CTT p.L55L ASL_uc011kdu.1_Silent_p.L55L|ASL_uc010kzx.1_Silent_p.L55L|ASL_uc011kdv.1_Silent_p.L55L|ASL_uc003tup.2_Silent_p.L55L|ASL_uc003tur.2_Silent_p.L55L|ASL_uc003tuq.2_Silent_p.L55L NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 55 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) CAGGGCTCCTCACCAAGGCCG 0.617 NA 7 46 0 0 0.00308 0 0 WRN 7486 broad.mit.edu 37 8 30977835 30977835 + Missense_Mutation SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr8:30977835C>T uc003xio.3 + 21 3313 c.2525C>T c.(2524-2526)CCT>CTT p.P842L WRN_uc010lvk.2_Missense_Mutation_p.P309L NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 842 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TACGGTGCTCCTAAGGACATG 0.428 Ovarian(18;161 598 2706 14834 27543) NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 14 77 0 0 0.00499 0 0 PRKDC 5591 broad.mit.edu 37 8 48710830 48710830 + Missense_Mutation SNP G G C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr8:48710830G>C uc003xqi.2 - 74 10483 c.10426C>G c.(10426-10428)CCA>GCA p.P3476A PRKDC_uc003xqj.2_Missense_Mutation_p.P3476A|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3476 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTCTCCTCTGGATACCGTTCT 0.363 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 3 63 0 0 0.004672 0 0 TEK 7010 broad.mit.edu 37 9 27204929 27204929 + Missense_Mutation SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr9:27204929G>A uc003zqi.3 + 14 2672 c.2230G>A c.(2230-2232)GGG>AGG p.G744R TEK_uc011lno.1_Missense_Mutation_p.G701R|TEK_uc011lnp.1_Missense_Mutation_p.G597R|TEK_uc003zqj.1_Missense_Mutation_p.G678R NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 744 Extracellular (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CCTCGGAGGGGGGAAGATGCT 0.507 NA 11 122 0 0 0.00245 0 0 C9orf11 54586 broad.mit.edu 37 9 27289707 27289707 + Silent SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr9:27289707G>A uc003zql.2 - 6 528 c.444C>T c.(442-444)GTC>GTT p.V148V C9orf11_uc011lnq.1_Silent_p.V119V NM_020641 NP_065692 Q9NQ60 AFAF_HUMAN Acr formation associated factor isoform 1 148 Vesicular (Potential). acrosomal membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106) TATCATCCATGACCACTGCTG 0.249 NA 4 24 0 0 0.000248 0 0 STOML2 30968 broad.mit.edu 37 9 35102793 35102793 + Missense_Mutation SNP G G C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr9:35102793G>C uc003zwi.2 - 2 136 c.73C>G c.(73-75)CCG>GCG p.P25A STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.P25A|STOML2_uc003zwk.2_5'UTR NM_013442 NP_038470 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 25 cytoskeleton receptor binding 0 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCGCGGCGCGGAGCGCGGCCA 0.647 NA 3 53 0 0 0.000248 0 0 RNF38 152006 broad.mit.edu 37 9 36353229 36353229 + Missense_Mutation SNP G G C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr9:36353229G>C uc003zzh.2 - 7 1200 c.1009C>G c.(1009-1011)CCA>GCA p.P337A RNF38_uc003zzi.2_Missense_Mutation_p.P287A|RNF38_uc003zzj.2_Missense_Mutation_p.P254A|RNF38_uc003zzk.2_Missense_Mutation_p.P254A|RNF38_uc003zzl.2_Missense_Mutation_p.P261A|RNF38_uc003zzm.2_Missense_Mutation_p.P254A NM_022781 NP_073618 Q9H0F5 RNF38_HUMAN ring finger protein 38 isoform 1 337 Pro-rich. zinc ion binding central_nervous_system(1) 1 STAD - Stomach adenocarcinoma(86;0.228) GGAGCTGATGGAGGTAATGTT 0.438 NA 3 78 0 0 0.004672 0 0 TAL2 6887 broad.mit.edu 37 9 108424891 108424891 + Silent SNP G G A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr9:108424891G>A uc004bct.2 + 1 154 c.114G>A c.(112-114)CTG>CTA p.L38L NM_005421 NP_005412 Q16559 TAL2_HUMAN T-cell acute lymphocytic leukemia 2 38 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 ACAAAAAGCTGAGCAAAAATG 0.527 NA T TRB@ T-ALL 4 79 0 0 0.000248 0 0 ARSD 414 broad.mit.edu 37 X 2825346 2825346 + Missense_Mutation SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chrX:2825346C>T uc004cqy.2 - 10 1824 c.1748G>A c.(1747-1749)TGT>TAT p.C583Y ARSD_uc004cqz.1_RNA NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 583 lysosome arylsulfatase activity|metal ion binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTGGCATGAACAGAACGGGAA 0.572 NA 14 73 0 0 0.004007 0 0 KDM6A 7403 broad.mit.edu 37 X 44938572 44938572 + Silent SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chrX:44938572C>T uc004dge.3 + 20 3495 c.3120C>T c.(3118-3120)GCC>GCT p.A1040A KDM6A_uc010nhk.2_Silent_p.A1006A|KDM6A_uc011mkz.1_Silent_p.A1092A|KDM6A_uc011mla.1_Silent_p.A995A|KDM6A_uc011mlb.1_Silent_p.A1047A|KDM6A_uc011mlc.1_Silent_p.A744A|KDM6A_uc011mld.1_Silent_p.A679A NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1040 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 AGTACCAGGCCTCCTCATTCC 0.348 Colon(129;1273 1667 15230 27352 52914) NA D|N|F|S renal|oesophageal SCC|MM 13 51 0 0 0.00245 0 0 CXCR3 2833 broad.mit.edu 37 X 70836739 70836739 + Missense_Mutation SNP C C T TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chrX:70836739C>T uc004eaf.2 - 2 651 c.583G>A c.(583-585)GAC>AAC p.D195N BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Missense_Mutation_p.D242N NM_001504 NP_001495 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 isoform A 195 Extracellular (Potential). cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity ovary(2)|central_nervous_system(1) 3 Renal(35;0.156) AGGCGCTCGTCGTGGTGGGCC 0.587 NA 5 27 0 0 0.006214 0 0 ENOX2 10495 broad.mit.edu 37 X 129771261 129771261 + Missense_Mutation SNP T T C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chrX:129771261T>C uc004evw.2 - 12 1758 c.1340A>G c.(1339-1341)GAC>GGC p.D447G ENOX2_uc004evx.2_Missense_Mutation_p.D418G|ENOX2_uc004evy.2_Missense_Mutation_p.D418G|ENOX2_uc004evv.2_Missense_Mutation_p.D272G NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 447 Potential. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 TTTGTTAGGGTCATCTTCTCT 0.473 Ovarian(101;828 1506 2951 9500 35258) NA 4 345 0 0 0.000602 0 0 DCT 1638 broad.mit.edu 37 13 95121039 95121040 + Frame_Shift_Ins INS - - A TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr13:95121039_95121040insA uc001vlv.3 - 2 982_983 c.555_556insT c.(553-558)TTTGTGfs p.F185fs DCT_uc010afh.2_Frame_Shift_Ins_p.F185fs NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 185_186 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TGGAGCCACACAAAAAAATCAT 0.45 NA 35 200 --- --- --- --- NA NA NA NA NA ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905682 139905683 + Frame_Shift_Del DEL AG AG - TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr5:139905682_139905683delAG uc003lfs.1 + 26 4718_4719 c.4594_4595delAG c.(4594-4596)AGGfs p.R1532fs ANKHD1_uc003lfr.2_Frame_Shift_Del_p.R1532fs|ANKHD1_uc003lfu.1_Frame_Shift_Del_p.R1012fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Del_p.R271fs|ANKHD1_uc003lfw.2_Frame_Shift_Del_p.R170fs|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1532 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGAAAAAAAGGGCCAATGTG 0.421 NA 24 166 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55242465 55242479 + In_Frame_Del DEL GGAATTAAGAGAAGC GGAATTAAGAGAAGC - rs121913421 TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 GGAATTAAGAGAAGC GGAATTAAGAGAAGC - - GGAATTAAGAGAAGC GGAATTAAGAGAAGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c3a2e7c-9aa0-495e-95c7-87f661b9ed92 2040f069-44ef-43cf-8ad0-51a6fd583ab6 g.chr7:55242465_55242479delGGAATTAAGAGAAGC uc003tqk.2 + 19 2481_2495 c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA p.ELREA746del EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 746_750 Cytoplasmic (Potential).|Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.A750_K754del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG 0.479 E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 7 145 --- --- --- --- NA NA NA NA NA