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 ESPNP 284729 broad.mit.edu 37 1 17033809 17033809 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:17033809G>T uc001azn.1 - 4 670 c.556C>A c.(556-558)CAC>AAC p.H186N ESPNP_uc010ocj.1_3'UTR NR_026567 RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein; 0 CGCAGGCAGTGGGTGCAGTGG 0.502 NA 4 33 0.000602214 0.000639853 0.000602 1 0 SLC9A1 6548 broad.mit.edu 37 1 27480730 27480730 + Silent SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:27480730G>C uc001bnm.2 - 1 722 c.96C>G c.(94-96)CTC>CTG p.L32L SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Silent_p.L32L NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 32 Helical; Name=M1; (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) CATGGCTCCTGAGAACAGGCA 0.607 NA 17 73 0 0 0.00499 0 0 GRIK3 2899 broad.mit.edu 37 1 37307529 37307529 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:37307529G>A uc001caz.2 - 10 1473 c.1338C>T c.(1336-1338)TTC>TTT p.F446F GRIK3_uc001cba.1_Silent_p.F446F NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 446 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GAAACATGACGAAGGGCTCCT 0.577 NA 6 98 0 0 0.001984 0 0 EIF2B3 8891 broad.mit.edu 37 1 45323445 45323445 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:45323445C>A uc001cmt.1 - 11 1364 c.1237G>T c.(1237-1239)GCT>TCT p.A413S EIF2B3_uc001cmu.1_Intron|EIF2B3_uc001cmv.1_Missense_Mutation_p.A387S NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 413 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TCGATCACAGCATTGTTGCAG 0.418 Colon(26;357 658 2581 11857 12657) NA 52 60 6.56871e-35 9.86834e-35 0.01441 1 0 INSL5 10022 broad.mit.edu 37 1 67263744 67263744 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:67263744C>A uc001dcw.2 - 2 395 c.360G>T c.(358-360)TTG>TTT p.L120F NM_005478 NP_005469 Q9Y5Q6 INSL5_HUMAN insulin-like 5 precursor 120 extracellular region hormone activity 0 CAGTGCAACACAAAGTTTGTA 0.443 NA 13 58 1.05317e-09 1.23251e-09 0.00245 1 0 C1orf173 127254 broad.mit.edu 37 1 75065541 75065541 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:75065541G>C uc001dgg.2 - 11 1783 c.1564C>G c.(1564-1566)CAA>GAA p.Q522E uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.Q316E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 522 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCATTCATTTGAACATCAGCC 0.383 NA 33 140 0 0 0.003271 0 0 GBP4 115361 broad.mit.edu 37 1 89662846 89662846 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:89662846A>G uc001dnb.2 - 2 298 c.182T>C c.(181-183)CTA>CCA p.L61P NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 61 GTP (By similarity). cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) TGTGCGGTATAGCCCTACAAT 0.478 NA 27 35 0 0 0.005443 0 0 SNX7 51375 broad.mit.edu 37 1 99156702 99156702 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:99156702G>A uc010ouc.1 + 3 487 c.435G>A c.(433-435)AAG>AAA p.K145K SNX7_uc001dsa.2_Silent_p.K81K|SNX7_uc010oud.1_Silent_p.K145K NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN sorting nexin 7 isoform a 81 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TTTGGTTGAAGGGAAAACTGG 0.368 NA 11 30 0 0 0.008291 0 0 SNX7 51375 broad.mit.edu 37 1 99203889 99203889 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:99203889G>T uc010ouc.1 + 8 1274 c.1222G>T c.(1222-1224)GAT>TAT p.D408Y SNX7_uc001dsa.2_Intron|SNX7_uc010oud.1_Missense_Mutation_p.D353Y NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN sorting nexin 7 isoform a 344 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TATGCAAAATGATATCAAGTT 0.338 NA 25 79 4.87955e-14 6.25435e-14 0.005443 1 0 ANKRD35 148741 broad.mit.edu 37 1 145561641 145561641 + Silent SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:145561641A>G uc001eob.1 + 10 1437 c.1329A>G c.(1327-1329)CAA>CAG p.Q443Q NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.Q286Q NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 443 ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGGACAGCAACTGACTACCA 0.557 Melanoma(9;127 754 22988 51047) NA 18 95 0 0 0.006122 0 0 PMF1 11243 broad.mit.edu 37 1 156203520 156203520 + Splice_Site SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:156203520G>T uc001fnq.2 + 3 391 c.368_splice c.e3+1 p.W123_splice PMF1_uc001fnr.2_Splice_Site_p.C123_splice|BGLAP_uc001fns.1_Splice_Site_p.W123_splice NM_007221 NP_009152 Q6P1K2 PMF1_HUMAN polyamine-modulated factor 1 cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytosol|MIS12/MIND type complex|transcription factor complex leucine zipper domain binding|transcription coactivator activity 0 Hepatocellular(266;0.158) AGCCAGCCTGGTGAGAGTGGG 0.378 Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415) NA 52 87 4.10826e-27 5.92397e-27 0.01441 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156917973 156917973 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:156917973C>A uc001fqo.2 - 23 3073 c.2033G>T c.(2032-2034)AGG>ATG p.R678M ARHGEF11_uc010phu.1_Missense_Mutation_p.R94M|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R718M NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 678 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CATCACTTACCTGCGGCCCAT 0.587 NA 13 33 4.36969e-10 5.20816e-10 0.001855 1 0 FCRL2 79368 broad.mit.edu 37 1 157745565 157745565 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:157745565C>G uc001fre.2 - 2 111 c.52G>C c.(52-54)GAT>CAT p.D18H FCRL2_uc010phz.1_Missense_Mutation_p.D18H|FCRL2_uc009wsp.2_Missense_Mutation_p.D18H|FCRL2_uc010pia.1_Missense_Mutation_p.D18H NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 18 cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GAGGACTCACCTGCCTGTTCA 0.438 NA 7 32 0 0 0.001984 0 0 OR6N1 128372 broad.mit.edu 37 1 158736044 158736044 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:158736044C>T uc010piq.1 - 1 429 c.429G>A c.(427-429)GAG>GAA p.E143E NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CAATGGCAATCTCTGCACAAA 0.537 NA 12 34 0 0 0.013537 0 0 ITLN1 55600 broad.mit.edu 37 1 160849122 160849122 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:160849122G>T uc001fxc.2 - 7 884 c.768C>A c.(766-768)GTC>GTA p.V256V NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN intelectin precursor 256 positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TACATCCGGTGACCCTCATTC 0.423 NA 46 88 8.72198e-27 1.25209e-26 0.01441 1 0 NUF2 83540 broad.mit.edu 37 1 163315514 163315514 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:163315514G>T uc001gcq.1 + 11 1154 c.854G>T c.(853-855)TGC>TTC p.C285F NUF2_uc001gcp.2_Missense_Mutation_p.C285F|NUF2_uc001gcr.1_Missense_Mutation_p.C285F|NUF2_uc009wvc.1_Intron NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 285 Interaction with the N-terminus of NDC80.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) TCAGTTGACTGCCTGCCTTCA 0.368 NA 33 77 1.22384e-17 1.675e-17 0.013726 1 0 DUSP27 92235 broad.mit.edu 37 1 167097826 167097826 + Missense_Mutation SNP A A C rs111745868 byFrequency TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:167097826A>C uc001geb.1 + 5 3458 c.3458A>C c.(3457-3459)CAG>CCG p.Q1153P NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1153 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 ACCAAGCTGCAGAAAAGGAGG 0.527 NA 13 27 0 0 0.003163 0 0 C1orf9 51430 broad.mit.edu 37 1 172579150 172579150 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:172579150G>C uc001giq.3 + 24 3832 c.3516G>C c.(3514-3516)CAG>CAC p.Q1172H C1orf9_uc009wwd.2_Missense_Mutation_p.Q1128H|C1orf9_uc010pmn.1_Missense_Mutation_p.Q801H|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 1172 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) CTTCATCACAGTCAGAAGAGT 0.403 Colon(43;174 953 11768 38880 47057) NA 21 139 0 0 0.014323 0 0 HMCN1 83872 broad.mit.edu 37 1 185932971 185932971 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:185932971G>T uc001grq.1 + 13 2271 c.2042G>T c.(2041-2043)TGC>TTC p.C681F HMCN1_uc001grr.1_Missense_Mutation_p.C22F NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 681 Ig-like C2-type 3. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATCTATGGTTGCCTAGCAAGT 0.328 NA 57 86 1.45723e-30 2.1298e-30 0.01441 1 0 FAM5C 339479 broad.mit.edu 37 1 190067402 190067402 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:190067402G>T uc001gse.1 - 8 2279 c.2047C>A c.(2047-2049)CTG>ATG p.L683M FAM5C_uc010pot.1_Missense_Mutation_p.L581M NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 683 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGCAAAATCAGGTCCCGAATT 0.463 NA 58 84 7.10663e-31 1.05295e-30 0.01441 1 0 PTPN14 5784 broad.mit.edu 37 1 214557195 214557195 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:214557195C>G uc001hkk.1 - 13 2274 c.2003G>C c.(2002-2004)CGC>CCC p.R668P PTPN14_uc010pty.1_Missense_Mutation_p.R569P NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 668 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GAGCGTGTTGCGGCGAGCCAT 0.647 Colon(92;557 1424 24372 34121 40073) NA 14 29 0 0 0.004007 0 0 PRSS38 339501 broad.mit.edu 37 1 228003938 228003938 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:228003938C>A uc001hrh.2 + 2 296 c.296C>A c.(295-297)GCG>GAG p.A99E NM_183062 NP_898885 A1L453 PRS38_HUMAN marapsin 2 precursor 99 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1)|pancreas(1) 2 CTGTCAGCTGCGCACTGCTTT 0.672 NA 49 102 1.30916e-28 1.89623e-28 0.01441 1 0 RYR2 6262 broad.mit.edu 37 1 237880546 237880547 + Missense_Mutation DNP CG CG TC TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:237880546_237880547CG>TC uc001hyl.1 + 72 10492_10493 c.10372_10373CG>TC c.(10372-10374)CGG>TCG p.R3458S RYR2_uc010pxz.1_Missense_Mutation_p.R413S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3458 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAAAGGAGATCGGTATTCCATG 0.495 NA 19 12 0 0 0.004672 0 0 RYR2 6262 broad.mit.edu 37 1 237947838 237947838 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:237947838G>T uc001hyl.1 + 90 12946 c.12826G>T c.(12826-12828)GTG>TTG p.V4276L RYR2_uc010pya.1_Missense_Mutation_p.V691L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4276 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAAGATGACCGTGAAGGACAT 0.468 NA 23 26 1.96895e-08 2.25521e-08 0.00278 1 0 OR2L13 284521 broad.mit.edu 37 1 248263049 248263049 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:248263049C>A uc001ids.2 + 3 709 c.372C>A c.(370-372)GCC>GCA p.A124A NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GTTATTTGGCCATCTGCCACT 0.502 NA 61 273 3.95532e-38 5.99797e-38 0.01441 1 0 OR2L13 284521 broad.mit.edu 37 1 248263312 248263312 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:248263312G>T uc001ids.2 + 3 972 c.635G>T c.(634-636)GGC>GTC p.G212V NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTTTCATTGGCATCACTTCT 0.428 NA 35 74 2.42023e-17 3.2846e-17 0.003271 1 0 VIM 7431 broad.mit.edu 37 10 17275634 17275634 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:17275634G>T uc001iou.2 + 4 1086 c.673G>T c.(673-675)GAA>TAA p.E225* VIM_uc001iov.1_Nonsense_Mutation_p.E225*|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Nonsense_Mutation_p.E225*|VIM_uc001ioy.1_Nonsense_Mutation_p.E225*|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Nonsense_Mutation_p.E225*|VIM_uc001ipc.1_Nonsense_Mutation_p.E225* NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 225 Rod.|Coil 1B. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 ACGCAAAGTGGAATCTTTGCA 0.458 NA 30 38 4.74835e-14 6.11043e-14 0.010818 1 0 SLC39A12 221074 broad.mit.edu 37 10 18270306 18270307 + Nonsense_Mutation DNP GG GG CT TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:18270306_18270307GG>CT uc001ipo.2 + 6 1263_1264 c.990_991GG>CT c.(988-993)AAGGAG>AACTAG p.330_331KE>N* SLC39A12_uc001ipn.2_Nonsense_Mutation_p.330_331KE>N*|SLC39A12_uc001ipp.2_Nonsense_Mutation_p.330_331KE>N*|SLC39A12_uc010qck.1_Nonsense_Mutation_p.196_197KE>N* NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 330_331 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TCATTTCTAAGGAGGACTTTAA 0.485 NA 26 60 0 0 0.004672 0 0 ZEB1 6935 broad.mit.edu 37 10 31810827 31810827 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:31810827A>C uc001ivs.3 + 7 2627 c.2564A>C c.(2563-2565)GAA>GCA p.E855A ZEB1_uc001ivr.3_Missense_Mutation_p.E637A|ZEB1_uc010qee.1_Missense_Mutation_p.E637A|ZEB1_uc010qef.1_Missense_Mutation_p.E637A|ZEB1_uc009xlj.1_Missense_Mutation_p.E781A|ZEB1_uc010qeg.1_Missense_Mutation_p.E714A|ZEB1_uc009xlk.1_Missense_Mutation_p.E637A|ZEB1_uc001ivt.3_Missense_Mutation_p.E637A|ZEB1_uc001ivu.3_Missense_Mutation_p.E856A|ZEB1_uc001ivv.3_Missense_Mutation_p.E835A|ZEB1_uc010qeh.1_Missense_Mutation_p.E788A|ZEB1_uc009xlo.1_Missense_Mutation_p.E838A|ZEB1_uc009xlp.2_Missense_Mutation_p.E839A NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 855 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) GCAGTCCAAGAACCACCCTTG 0.438 Ovarian(40;423 959 14296 36701 49589) NA 26 52 0 0 0.00632 0 0 PPYR1 5540 broad.mit.edu 37 10 47087797 47087797 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:47087797G>T uc001jee.2 + 3 1433 c.1014G>T c.(1012-1014)CTG>CTT p.L338L ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.L338L NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 338 Cytoplasmic (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 CCCTGGTGCTGACTTGCCAGC 0.567 NA 21 83 5.26018e-13 6.61104e-13 0.012319 1 0 GDF2 2658 broad.mit.edu 37 10 48413967 48413967 + Missense_Mutation SNP C C G rs41314469 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:48413967C>G uc001jfa.1 - 2 1064 c.901G>C c.(901-903)GAG>CAG p.E301Q NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 301 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 GTGTCCTCCTCGTGACTGCTC 0.622 NA 29 47 0 0 0.008361 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72434578 72434578 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:72434578C>T uc001jrh.2 + 2 349 c.349C>T c.(349-351)CTG>TTG p.L117L ADAMTS14_uc001jrg.2_Silent_p.L117L NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 117 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 CGGGAAGGAACTGCACTTGCG 0.637 NA 18 23 0 0 0.006122 0 0 LDB3 11155 broad.mit.edu 37 10 88441336 88441336 + Silent SNP C C T rs45516997 byFrequency TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:88441336C>T uc001kdv.2 + 4 488 c.465C>T c.(463-465)CTC>CTT p.L155L LDB3_uc010qml.1_Silent_p.L155L|LDB3_uc010qmm.1_Silent_p.L155L|LDB3_uc001kdu.2_Intron|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Silent_p.L155L|LDB3_uc001kds.2_Silent_p.L155L|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 155 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 TCTCCTCACTCGCCGAGGCCT 0.736 NA 3 42 0 0 0.004672 0 0 PANK1 53354 broad.mit.edu 37 10 91404709 91404709 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:91404709C>T uc001kgp.1 - 1 507 c.351G>A c.(349-351)GAG>GAA p.E117E PANK1_uc001kgn.1_5'Flank|PANK1_uc001kgo.1_5'Flank|PANK1_uc009xtu.1_5'Flank NM_148977 NP_683878 Q8TE04 PANK1_HUMAN pantothenate kinase 1 isoform alpha 117 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity 0 Bezafibrate(DB01393) GGAGGTCATTCTCCGGCGTCT 0.741 NA 8 18 0 0 0.00308 0 0 HPSE2 60495 broad.mit.edu 37 10 100374727 100374727 + Silent SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:100374727C>G uc001kpn.1 - 9 1314 c.1254G>C c.(1252-1254)GTG>GTC p.V418V HPSE2_uc009xwc.1_Silent_p.V408V|HPSE2_uc001kpo.1_Silent_p.V350V|HPSE2_uc009xwd.1_Silent_p.V296V NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 418 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) AGTGCCGTATCACGACATCAA 0.388 NA 53 113 0 0 0.01441 0 0 GSTO2 119391 broad.mit.edu 37 10 106037800 106037800 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:106037800C>T uc001kyb.2 + 4 920 c.292C>T c.(292-294)CCA>TCA p.P98S GSTO2_uc010qqw.1_Missense_Mutation_p.P98S|GSTO2_uc010qqx.1_Missense_Mutation_p.P98S|GSTO2_uc001kyc.2_Missense_Mutation_p.P70S|GSTO2_uc010qqy.1_Missense_Mutation_p.P70S NM_183239 NP_899062 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 98 GST N-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TGATGCTTATCCAGGAAGGAA 0.408 NA 26 42 0 0 0.003954 0 0 NHLRC2 374354 broad.mit.edu 37 10 115636548 115636548 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:115636548C>T uc001lax.1 + 3 812 c.600C>T c.(598-600)GAC>GAT p.D200D NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 200 Thioredoxin. cell redox homeostasis ovary(1) 1 Epithelial(162;0.017)|all cancers(201;0.0187) ATTACAAAGACAGGGGGCAGA 0.343 NA 23 39 0 0 0.014323 0 0 SLC18A2 6571 broad.mit.edu 37 10 119013583 119013584 + Missense_Mutation DNP CC CC AA rs11568719 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:119013583_119013584CC>AA uc001ldd.1 + 5 579_580 c.548_549CC>AA c.(547-549)GCC>GAA p.A183E SLC18A2_uc009xyy.1_5'UTR NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 183 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AGCAGCTATGCCTTCCTGCTGA 0.594 NA 65 104 0 0 0.004672 0 0 RGS10 6001 broad.mit.edu 37 10 121275037 121275037 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:121275037T>C uc001lee.2 - 3 359 c.359A>G c.(358-360)CAG>CGG p.Q120R RGS10_uc001lef.2_Missense_Mutation_p.Q114R|RGS10_uc001leg.2_Missense_Mutation_p.Q128R NM_002925 NP_002916 O43665 RGS10_HUMAN regulator of G-protein signaling 10 isoform b 120 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) CTGGAGTTTCTGGAACATCAG 0.512 NA 15 33 0 0 0.003163 0 0 MKI67 4288 broad.mit.edu 37 10 129907447 129907447 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:129907447T>G uc001lke.2 - 13 2852 c.2657A>C c.(2656-2658)AAG>ACG p.K886T MKI67_uc001lkf.2_Missense_Mutation_p.K526T|MKI67_uc009yav.1_Missense_Mutation_p.K461T|MKI67_uc009yaw.1_Missense_Mutation_p.K36T NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 886 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CACAGGTAGCTTCTGTATATT 0.403 NA 9 214 0 0 0.006214 0 0 PPP2R2D 55844 broad.mit.edu 37 10 133753657 133753657 + Nonsense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:133753657G>A uc001lks.2 + 2 465 c.222G>A c.(220-222)TGG>TGA p.W74* PPP2R2D_uc001lkr.2_5'UTR|PPP2R2D_uc001lkt.2_5'UTR|PPP2R2D_uc009yay.2_5'UTR NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 107 WD 2. cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) AAATTAGGTGGTTACCACAAC 0.313 NA 17 17 0 0 0.00499 0 0 MUC5B 727897 broad.mit.edu 37 11 1267214 1267214 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:1267214C>T uc009ycr.1 + 49 10979 c.10853C>T c.(10852-10854)ACC>ATC p.T3618I MUC5B_uc001ltb.2_Missense_Mutation_p.T3038I NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3035 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCACAGCCACCAGTTCCAAA 0.612 NA 63 110 0 0 0.01441 0 0 SYT8 90019 broad.mit.edu 37 11 1858580 1858580 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:1858580C>T uc001lue.1 + 9 1253 c.1125C>T c.(1123-1125)CCC>CCT p.P375P SYT8_uc001lud.2_Silent_p.P375P|SYT8_uc001luf.1_Silent_p.P361P|TNNI2_uc010qxc.1_5'Flank|TNNI2_uc010qxd.1_5'Flank|TNNI2_uc010qxe.1_5'Flank NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN synaptotagmin VIII 375 Cytoplasmic (Potential). acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCGGCACCCCCTGCGGCCAG 0.726 NA 4 11 0 0 0.009096 0 0 IGF2AS 51214 broad.mit.edu 37 11 2167657 2167657 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:2167657C>T uc010qxi.1 + 2 624 c.487C>T c.(487-489)CCC>TCC p.P163S IGF2_uc001lvh.2_Intron|INS-IGF2_uc001lvi.2_Intron|IGF2AS_uc001lvk.1_RNA|IGF2AS_uc001lvl.1_RNA NM_016412 NP_057496 RecName: Full=Putative insulin-like growth factor 2 antisense gene protein; Short=IGF2-AS; AltName: Full=PEG8/IGF2AS protein; 0 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00388)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CTGGCGTCAGCCCGGCCGGCC 0.657 NA 3 21 0 0 0.004672 0 0 NUP98 4928 broad.mit.edu 37 11 3714511 3714511 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:3714511G>T uc001lyh.2 - 27 4553 c.4262C>A c.(4261-4263)CCA>CAA p.P1421Q NUP98_uc001lyi.2_Missense_Mutation_p.P1421Q|NUP98_uc001lyg.2_Missense_Mutation_p.P386Q NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1438 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GGAGGCTGTTGGTGGAAGCAA 0.463 NA T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 50 115 7.77372e-23 1.10128e-22 0.01441 1 0 OR51D1 390038 broad.mit.edu 37 11 4661103 4661103 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:4661103G>A uc010qyk.1 + 1 83 c.83G>A c.(82-84)GGT>GAT p.G28D NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 28 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTTTGGTGGGTATCCCTGGC 0.512 NA 63 68 0 0 0.01441 0 0 OR51A7 119687 broad.mit.edu 37 11 4929367 4929367 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:4929367C>A uc010qyq.1 + 1 768 c.768C>A c.(766-768)ACC>ACA p.T256T NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCATCACCCTGGCTGCCA 0.493 NA 90 113 1.13762e-57 1.75814e-57 0.01441 1 0 DCDC1 341019 broad.mit.edu 37 11 31312227 31312227 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:31312227A>C uc001msv.2 - 7 1129 c.927T>G c.(925-927)CAT>CAG p.H309Q DCDC1_uc001msu.1_Intron NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 309 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) CTGTAATCTCATGCCCATCCT 0.348 NA 32 41 0 0 0.012213 0 0 LOC440040 440040 broad.mit.edu 37 11 49597924 49597924 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:49597924G>T uc010rhy.1 + 2 515 c.37G>T c.(37-39)GTT>TTT p.V13F LOC440040_uc009ymb.2_Missense_Mutation_p.V13F NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 TCTCTTTTCTGTTCATCACCA 0.512 NA 8 32 0.000157383 0.000168886 0.00308 1 0 OR4C12 283093 broad.mit.edu 37 11 50003155 50003155 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:50003155C>T uc010ria.1 - 1 883 c.883G>A c.(883-885)GCA>ACA p.A295T NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TTCCTTATTGCACTTTTTACC 0.368 NA 13 51 0 0 0.001855 0 0 OR5F1 338674 broad.mit.edu 37 11 55762023 55762023 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:55762023G>C uc010riv.1 - 1 79 c.79C>G c.(79-81)CTC>GTC p.L27V NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 27 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AACAAAAAGAGGATAATCTGT 0.383 NA 34 45 0 0 0.012213 0 0 OR5M3 219482 broad.mit.edu 37 11 56237637 56237637 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:56237637G>C uc010rjk.1 - 1 337 c.337C>G c.(337-339)CTT>GTT p.L113V NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATCGCAGCAAGAATAAAAATT 0.373 NA 43 90 0 0 0.009718 0 0 SMTNL1 219537 broad.mit.edu 37 11 57317484 57317484 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:57317484G>A uc009ymh.1 + 8 1438 c.1438G>A c.(1438-1440)GTG>ATG p.V480M NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 462 ovary(1) 1 GGATGACATGGTGCGGTTGGC 0.537 NA 12 27 0 0 0.013537 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64694309 64694309 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:64694309G>A uc001oby.2 + 3 910 c.325G>A c.(325-327)GAG>AAG p.E109K PPP2R5B_uc001obz.2_Missense_Mutation_p.E109K NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 109 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 AGCCCTCAACGAGCTGGTGGA 0.642 NA 14 67 0 0 0.003163 0 0 DPP3 10072 broad.mit.edu 37 11 66264796 66264796 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:66264796C>T uc001oig.1 + 16 1788 c.1726C>T c.(1726-1728)CTG>TTG p.L576L DPP3_uc001oif.1_Silent_p.L576L|DPP3_uc010rpe.1_Silent_p.L565L|DPP3_uc001oih.1_5'UTR NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 576 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 GTTTGTGATCCTGAGAGTCTT 0.532 NA 18 40 0 0 0.006122 0 0 MYO7A 4647 broad.mit.edu 37 11 76853808 76853808 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:76853808C>A uc001oyb.2 + 3 344 c.72C>A c.(70-72)ATC>ATA p.I24I MYO7A_uc010rsl.1_Silent_p.I24I|MYO7A_uc010rsm.1_Silent_p.I13I|MYO7A_uc001oyc.2_Silent_p.I24I NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 24 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 ACGTGCCCATCGGGGCGGTGG 0.622 NA 3 11 0.00909568 0.00935638 0.009096 1 0 GRM5 2915 broad.mit.edu 37 11 88338066 88338066 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:88338066T>C uc001pcq.2 - 4 1414 c.1214A>G c.(1213-1215)TAT>TGT p.Y405C GRM5_uc009yvm.2_Missense_Mutation_p.Y405C NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 405 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGCCATCGAATAGATGGCGTT 0.458 NA 12 59 0 0 0.010729 0 0 CNTN5 53942 broad.mit.edu 37 11 99941210 99941210 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:99941210C>A uc001pga.2 + 11 1556 c.1217C>A c.(1216-1218)CCT>CAT p.P406H CNTN5_uc009ywv.1_Missense_Mutation_p.P406H|CNTN5_uc001pfz.2_Missense_Mutation_p.P406H|CNTN5_uc001pgb.2_Missense_Mutation_p.P332H NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 406 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGTGGGAGCCCTCTCCGATGG 0.458 NA 6 24 0.00116845 0.00123336 0.001168 1 0 TRPC6 7225 broad.mit.edu 37 11 101375428 101375429 + Missense_Mutation DNP CG CG GA TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:101375428_101375429CG>GA uc001pgk.3 - 2 696_697 c.271_272CG>TC c.(271-273)CGC>TCC p.R91S TRPC6_uc009ywy.2_Missense_Mutation_p.R91S|TRPC6_uc009ywz.1_Missense_Mutation_p.R91S NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 91 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GCTTGTGGAGCGATCACTAAAC 0.51 Colon(166;1315 1927 11094 12848 34731) NA 32 108 0 0 0.004672 0 0 DRD2 1813 broad.mit.edu 37 11 113295259 113295259 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:113295259T>A uc001pnz.2 - 1 436 c.115A>T c.(115-117)ACA>TCA p.T39S DRD2_uc010rwv.1_Missense_Mutation_p.T39S|DRD2_uc001poa.3_Missense_Mutation_p.T39S|DRD2_uc001pob.3_Missense_Mutation_p.T39S|DRD2_uc009yyr.1_Missense_Mutation_p.T39S NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 39 Helical; Name=1; (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GTGAGCAGTGTGGCATAGTAG 0.587 NA 30 54 0 0 0.009535 0 0 DDX25 29118 broad.mit.edu 37 11 125778353 125778353 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:125778353G>A uc001qcz.3 + 6 603 c.462G>A c.(460-462)GTG>GTA p.V154V DDX25_uc010sbk.1_Silent_p.V154V NM_013264 NP_037396 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 154 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(1) 1 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) CGGCATTTGTGTTGGCAATGT 0.463 NA 68 95 0 0 0.01441 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 5 0.00621372 0.00643279 0.006214 1 0 KIF21A 55605 broad.mit.edu 37 12 39734815 39734815 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:39734815T>A uc001rly.2 - 15 2149 c.2003A>T c.(2002-2004)CAG>CTG p.Q668L KIF21A_uc001rlw.2_5'UTR|KIF21A_uc001rlx.2_Missense_Mutation_p.Q655L|KIF21A_uc001rlz.2_Missense_Mutation_p.Q655L|KIF21A_uc010skl.1_Missense_Mutation_p.Q655L NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 668 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CAGTCTTTTCTGGCTGTTTTC 0.363 NA 14 12 0 0 0.00245 0 0 KRT6A 3853 broad.mit.edu 37 12 52885323 52885323 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:52885323C>T uc001sam.2 - 2 947 c.738G>A c.(736-738)GTG>GTA p.V246V NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 246 Coil 1B.|Rod. 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) TGAAGTCCTCCACCAGGTCCT 0.542 NA 42 43 0 0 0.007835 0 0 AMDHD1 144193 broad.mit.edu 37 12 96350688 96350688 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:96350688G>A uc001tel.1 + 4 641 c.535G>A c.(535-537)GAG>AAG p.E179K AMDHD1_uc009zth.1_Missense_Mutation_p.E70K NM_152435 NP_689648 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 179 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1) 1 CGCCCGGCGGGAGCTGGACAT 0.602 NA 6 137 0 0 0.001168 0 0 GLT8D2 83468 broad.mit.edu 37 12 104393232 104393232 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:104393232C>T uc001tkh.1 - 6 751 c.345G>A c.(343-345)CCG>CCA p.P115P GLT8D2_uc001tki.1_Silent_p.P115P NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 115 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 TGAGGACCATCGGGTTGAATT 0.438 NA 66 43 0 0 0.01441 0 0 NAA25 80018 broad.mit.edu 37 12 112516501 112516501 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:112516501C>A uc001ttm.2 - 6 542 c.522G>T c.(520-522)CTG>CTT p.L174L NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.L146L|NAA25_uc009zwa.1_Silent_p.L174L NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 174 cytoplasm protein binding p.L174L(1) ovary(1)|breast(1)|pancreas(1) 3 CAGCAAGGGGCAGAAACATTG 0.368 NA 55 42 7.37877e-41 1.12955e-40 0.01441 1 0 MTUS2 23281 broad.mit.edu 37 13 30062124 30062124 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:30062124C>A uc001usl.3 + 9 3575 c.3517C>A c.(3517-3519)CAC>AAC p.H1173N MTUS2_uc001usm.3_Missense_Mutation_p.H142N|MTUS2_uc010aau.2_Missense_Mutation_p.H52N|uc001usn.2_5'Flank NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 1163 Potential. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GCAGGATGACCACGACCACAA 0.577 NA 23 63 1.33986e-20 1.88163e-20 0.004656 1 0 FRY 10129 broad.mit.edu 37 13 32745188 32745188 + Silent SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:32745188A>C uc001utx.2 + 18 2428 c.1932A>C c.(1930-1932)GCA>GCC p.A644A FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 644 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GACATATTGCACAAAATTCTC 0.363 NA 41 85 0 0 0.010771 0 0 PDS5B 23047 broad.mit.edu 37 13 33247430 33247430 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:33247430G>A uc010abf.2 + 8 941 c.783G>A c.(781-783)GAG>GAA p.E261E PDS5B_uc001uuo.2_Silent_p.E261E|PDS5B_uc010abg.2_RNA|PDS5B_uc010teb.1_5'Flank NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 261 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TAATTTTGGAGCTCTACAATA 0.338 NA 27 54 0 0 0.00632 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149475 45149475 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:45149475T>A uc001uzn.3 - 1 1227 c.736A>T c.(736-738)AGT>TGT p.S246C TSC22D1_uc001uzo.1_Missense_Mutation_p.S246C NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 246 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ATGGATGCACTGGCCACAGCA 0.343 NA 26 23 0 0 0.003954 0 0 KLHL1 57626 broad.mit.edu 37 13 70535565 70535565 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:70535565C>T uc001vip.2 - 3 1486 c.692G>A c.(691-693)AGT>AAT p.S231N KLHL1_uc010thm.1_Missense_Mutation_p.S170N NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 231 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGAGACTGAACTCAGAACAAG 0.438 NA 31 41 0 0 0.013726 0 0 SPRY2 10253 broad.mit.edu 37 13 80911269 80911269 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:80911269T>A uc001vli.2 - 2 1550 c.572A>T c.(571-573)TAC>TTC p.Y191F SPRY2_uc001vlj.2_Missense_Mutation_p.Y191F NM_005842 NP_005833 O43597 SPY2_HUMAN sprouty 2 191 SPR.|Cys-rich. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity ovary(1)|lung(1) 2 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) AGGCCTTGGGTAGGTGCACTC 0.537 NA 32 48 0 0 0.008361 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453805 84453805 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:84453805C>A uc001vlk.2 - 1 2724 c.1838G>T c.(1837-1839)AGC>ATC p.S613I NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 613 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GGACACCCTGCTGGTGTCTAG 0.582 NA 14 29 1.49906e-05 1.64134e-05 0.00245 1 0 ING1 3621 broad.mit.edu 37 13 111372015 111372015 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:111372015C>T uc001vri.2 + 2 1437 c.1005C>T c.(1003-1005)GCC>GCT p.A335A ING1_uc001vrf.2_Silent_p.A148A|ING1_uc001vrg.2_Silent_p.A123A|ING1_uc001vrh.2_Silent_p.A192A NM_005537 NP_005528 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 isoform D 335 A -> D (in HNSCC). cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding ovary(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GCTCCAAGGCCAAGGCGGAGC 0.627 NA 21 34 0 0 0.010504 0 0 ATP11A 23250 broad.mit.edu 37 13 113439475 113439475 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:113439475C>T uc001vsi.3 + 2 154 c.66C>T c.(64-66)GAC>GAT p.D22D ATP11A_uc001vsj.3_Silent_p.D22D|ATP11A_uc001vsm.1_5'UTR NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 22 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) ATTGGGTGGACAGCAGGACCA 0.567 NA OREG0003855 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 42 73 0 0 0.006999 0 0 TFDP1 7027 broad.mit.edu 37 13 114288852 114288852 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:114288852G>T uc001vtw.2 + 8 834 c.622G>T c.(622-624)GAA>TAA p.E208* TFDP1_uc010tkd.1_Nonsense_Mutation_p.E113*|TFDP1_uc010tke.1_Nonsense_Mutation_p.E113*|TFDP1_uc001vty.3_Nonsense_Mutation_p.E208*|TFDP1_uc001vtx.2_Nonsense_Mutation_p.E88* NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 208 Dimerization (Potential). cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.E208*(1) lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) TTTGAAGGTGGAAAGACAGAG 0.398 NA TSP Lung(29;0.18) 30 56 3.99451e-17 5.39844e-17 0.009535 1 0 RNASE3 6037 broad.mit.edu 37 14 21360027 21360027 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:21360027G>A uc001vyj.2 + 2 236 c.182G>A c.(181-183)CGA>CAA p.R61Q NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 61 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) AACAATTATCGATGGCGTTGC 0.443 NA 26 25 0 0 0.003954 0 0 RNF31 55072 broad.mit.edu 37 14 24624848 24624848 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:24624848G>C uc001wmn.1 + 14 2689 c.2440G>C c.(2440-2442)GAG>CAG p.E814Q RNF31_uc001wml.1_Missense_Mutation_p.E663Q|RNF31_uc010alg.1_Missense_Mutation_p.E573Q|RNF31_uc001wmo.1_Missense_Mutation_p.E281Q|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.W6C NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 814 IBR-type 1. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) TGAGCAGCTGGAGGCAACTTG 0.453 NA 33 78 0 0 0.012213 0 0 PELI2 57161 broad.mit.edu 37 14 56746457 56746457 + Missense_Mutation SNP G G A rs151092148 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:56746457G>A uc001xch.2 + 3 557 c.271G>A c.(271-273)GTG>ATG p.V91M NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 91 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 GACTGTGGTGGTGGAGTACAC 0.303 NA 38 63 0 0 0.010771 0 0 SYNE2 23224 broad.mit.edu 37 14 64634321 64634322 + Missense_Mutation DNP CC CC AT TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:64634321_64634322CC>AT uc001xgm.2 + 92 17099_17100 c.16869_16870CC>AT c.(16867-16872)AGCCTT>AGATTT p.5623_5624SL>RF SYNE2_uc001xgl.2_Missense_Mutation_p.5623_5624SL>RF|SYNE2_uc010apy.2_Missense_Mutation_p.2008_2009SL>RF|SYNE2_uc001xgn.2_Missense_Mutation_p.585_586SL>RF|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_5'UTR NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5623_5624 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGGCTAACAGCCTTCCTGAGCT 0.455 NA 17 46 0 0 0.004672 0 0 NRXN3 9369 broad.mit.edu 37 14 79175866 79175866 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:79175866G>C uc001xun.2 + 4 900 c.409G>C c.(409-411)GTG>CTG p.V137L NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.V271L NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 510 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTTCTTTGCCGTGGAACTCCT 0.507 NA 27 73 0 0 0.004656 0 0 STON2 85439 broad.mit.edu 37 14 81743750 81743750 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:81743750G>T uc010tvu.1 - 4 2106 c.1905C>A c.(1903-1905)ACC>ACA p.T635T STON2_uc001xvk.1_Silent_p.T635T|STON2_uc010tvt.1_Silent_p.T432T NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 635 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACTTTGTGGTGGTGGTGGGCA 0.517 NA 19 19 3.32936e-07 3.73397e-07 0.006122 1 0 FLRT2 23768 broad.mit.edu 37 14 86088015 86088015 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:86088015A>T uc001xvr.2 + 2 924 c.157A>T c.(157-159)AGC>TGC p.S53C FLRT2_uc010atd.2_Missense_Mutation_p.S53C NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 53 Extracellular (Potential).|LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TAATGAGCGAAGCTTGACCTC 0.512 NA 41 73 0 0 0.011902 0 0 Unknown 0 broad.mit.edu 37 15 22440670 22440670 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:22440670C>A uc001yug.2 - 1 196 c.177G>T c.(175-177)AGG>AGT p.R59S full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). NA TCACGTCCAGCCTCAGGGCAC 0.522 NA 14 42 1.05317e-09 1.23251e-09 0.00245 1 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929036 32929036 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:32929036A>G uc001zgy.1 + 12 2784 c.2062A>G c.(2062-2064)ATA>GTA p.I688V ARHGAP11A_uc010ubw.1_Missense_Mutation_p.I499V|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.I499V NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 688 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) AGAAACAACTATAAAATGTTA 0.323 Colon(45;757 1134 30003 36652) NA 12 28 0 0 0.010729 0 0 RYR3 6263 broad.mit.edu 37 15 34145788 34145788 + Silent SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:34145788A>G uc001zhi.2 + 96 13774 c.13704A>G c.(13702-13704)GCA>GCG p.A4568A RYR3_uc010bar.2_Silent_p.A4563A NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4568 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCTACGGAGCAGAACGCATTG 0.488 NA 9 32 0 0 0.004482 0 0 MGA 23269 broad.mit.edu 37 15 42058514 42058514 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:42058514A>T uc010ucy.1 + 24 8415 c.8234A>T c.(8233-8235)AAA>ATA p.K2745I MGA_uc010ucz.1_Missense_Mutation_p.K2536I NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2706 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTCTTACCTAAAAAGATTTCT 0.378 NA 13 10 0 0 0.00245 0 0 SPTBN5 51332 broad.mit.edu 37 15 42172497 42172497 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:42172497C>A uc001zos.2 - 14 2900 c.2567G>T c.(2566-2568)CGG>CTG p.R856L NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 891 Spectrin 6. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTCCTCCAACCGGGCCCTGCG 0.667 NA 8 11 0.000673444 0.000713188 0.008291 1 0 PPIP5K1 9677 broad.mit.edu 37 15 43827131 43827131 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:43827131T>A uc001zrw.2 - 31 4226 c.4043A>T c.(4042-4044)AAG>ATG p.K1348M PPIP5K1_uc001zrx.1_Missense_Mutation_p.K1321M|PPIP5K1_uc001zru.2_Missense_Mutation_p.K1323M|PPIP5K1_uc001zry.3_Missense_Mutation_p.K1323M|PPIP5K1_uc001zrv.2_Missense_Mutation_p.K1109M NM_001130858 NP_001124330 Q6PFW1 VIP1_HUMAN histidine acid phosphatase domain containing 2A 1348 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity 0 ATGGACCAGCTTGCCAACCTC 0.552 NA 66 50 0 0 0.01441 0 0 UNC13C 440279 broad.mit.edu 37 15 54685309 54685309 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:54685309C>G uc002ack.2 + 16 4777 c.4777C>G c.(4777-4779)CCC>GCC p.P1593A UNC13C_uc002acl.2_Missense_Mutation_p.P423A NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1593 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) GGATTTTTGGCCCCAACTTAT 0.393 NA 29 35 0 0 0.009535 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499557 59499557 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:59499557C>A uc002agb.2 + 1 516 c.418C>A c.(418-420)CTA>ATA p.L140I MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 140 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) AAACTCCAACCTAGTGATTAT 0.428 NA 75 78 3.41413e-29 4.96741e-29 0.01441 1 0 NOX5 79400 broad.mit.edu 37 15 69339834 69339834 + Missense_Mutation SNP G G A rs145431252 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:69339834G>A uc002ars.1 + 12 1794 c.1774G>A c.(1774-1776)GGC>AGC p.G592S NOX5_uc002arp.1_Missense_Mutation_p.G574S|NOX5_uc002arq.1_Missense_Mutation_p.G546S|NOX5_uc010bid.1_Missense_Mutation_p.G557S|NOX5_uc002arr.1_Missense_Mutation_p.G564S|NOX5_uc010bie.1_Missense_Mutation_p.G392S|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 592 Helical; (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 GGCAGGCATCGGCATCACCCC 0.582 NA 11 41 0 0 0.013537 0 0 TBC1D21 161514 broad.mit.edu 37 15 74178467 74178467 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:74178467C>A uc002avz.2 + 7 711 c.628C>A c.(628-630)CTC>ATC p.L210I TBC1D21_uc010ulc.1_Missense_Mutation_p.L174I NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 210 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(2) 2 CCTAGACATGCTCAGCACCCT 0.592 NA 26 36 9.39395e-14 1.19458e-13 0.00632 1 0 CHRNA3 1136 broad.mit.edu 37 15 78909405 78909405 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:78909405G>A uc002bec.2 - 4 524 c.338C>T c.(337-339)GCA>GTA p.A113V CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.A113V NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 113 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 GATCTTCTGTGCAGGGACACG 0.562 NA 13 11 0 0 0.003163 0 0 FURIN 5045 broad.mit.edu 37 15 91421523 91421523 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:91421523G>T uc002bpu.1 + 8 1045 c.829G>T c.(829-831)GGG>TGG p.G277W NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 277 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTTCTTCCGTGGGGTTAGCCA 0.587 NA 17 14 5.26018e-13 6.61104e-13 0.012319 1 0 PRC1 9055 broad.mit.edu 37 15 91512795 91512795 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:91512795G>A uc002bqm.2 - 13 1788 c.1631C>T c.(1630-1632)GCC>GTC p.A544V PRC1_uc002bqn.2_Missense_Mutation_p.A544V|PRC1_uc002bqo.2_Missense_Mutation_p.A544V|PRC1_uc010uqs.1_Missense_Mutation_p.A503V NM_003981 NP_003972 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 isoform 1 544 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding ovary(1)|skin(1) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) CTCCTTGTTGGCTCCATGCCT 0.552 NA 28 83 0 0 0.008361 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92647611 92647611 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:92647611T>G uc002bqx.2 + 4 1049 c.848T>G c.(847-849)TTT>TGT p.F283C SLCO3A1_uc002bqy.2_Missense_Mutation_p.F283C|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.F225C NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 283 Helical; Name=6; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CTCTTGATGTTTGGGTTTCCA 0.597 NA 36 102 0 0 0.003271 0 0 MCTP2 55784 broad.mit.edu 37 15 94841680 94841680 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:94841680C>T uc002btj.2 + 1 251 c.186C>T c.(184-186)GCC>GCT p.A62A MCTP2_uc010urg.1_Silent_p.A62A|MCTP2_uc002bti.2_Silent_p.A62A|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Silent_p.A62A|MCTP2_uc002btg.3_Silent_p.A62A|MCTP2_uc002bth.3_Silent_p.A62A NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 62 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGGCCTTGGCCCCAGAGGGCC 0.607 NA 22 49 0 0 0.012319 0 0 OR4F15 390649 broad.mit.edu 37 15 102358657 102358657 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:102358657A>C uc010uts.1 + 1 268 c.268A>C c.(268-270)AAG>CAG p.K90Q NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CAAGAAGCACAAGGCCATCTC 0.453 NA 75 89 0 0 0.01441 0 0 KREMEN2 79412 broad.mit.edu 37 16 3014592 3014592 + Nonsense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:3014592C>A uc002csg.2 + 1 376 c.71C>A c.(70-72)TCG>TAG p.S24* KREMEN2_uc010bsw.1_Nonsense_Mutation_p.S24*|KREMEN2_uc002csh.2_Nonsense_Mutation_p.S24*|KREMEN2_uc010uwl.1_Nonsense_Mutation_p.S24*|KREMEN2_uc010bsx.2_Nonsense_Mutation_p.S24*|KREMEN2_uc002csi.2_Nonsense_Mutation_p.S24* NM_172229 NP_757384 Q8NCW0 KREM2_HUMAN kringle-containing transmembrane protein 2 24 Wnt receptor signaling pathway integral to membrane central_nervous_system(2) 2 CGTGGGGCCTCGGCTGGGAGC 0.687 NA 9 34 0.00621372 0.00643279 0.006214 1 0 GTF3C1 2975 broad.mit.edu 37 16 27518169 27518169 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:27518169C>A uc002dov.1 - 9 1591 c.1551G>T c.(1549-1551)AAG>AAT p.K517N GTF3C1_uc002dou.2_Missense_Mutation_p.K517N NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 517 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GCTCCCTACCCTTGGTTGGGG 0.622 NA 4 3 8.12818e-05 8.75135e-05 0.001984 1 0 MVP 9961 broad.mit.edu 37 16 29848101 29848101 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:29848101G>T uc002dui.2 + 7 815 c.731G>T c.(730-732)CGC>CTC p.R244L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.R244L|MVP_uc010vea.1_5'UTR NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 244 MVP 5. mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 GTGTCCCGCCGCACTGGGGAG 0.637 NA 21 29 1.22574e-08 1.41398e-08 0.014323 1 0 SALL1 6299 broad.mit.edu 37 16 51173592 51173592 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:51173592G>A uc010vgs.1 - 2 2572 c.2541C>T c.(2539-2541)TCC>TCT p.S847S SALL1_uc010vgr.1_Silent_p.S750S|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 847 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGCTGTCTTGGGAGGCGTCTG 0.488 GBM(103;1352 1446 1855 4775 8890) NA 66 64 0 0 0.01441 0 0 RBL2 5934 broad.mit.edu 37 16 53515618 53515618 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:53515618A>T uc002ehi.3 + 21 3238 c.3120A>T c.(3118-3120)GTA>GTT p.V1040V RBL2_uc002ehj.2_Silent_p.V750V|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1040 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 ATCCATTTGTAAGAACAGGCT 0.313 NA 12 21 0 0 0.013537 0 0 LOC283867 283867 broad.mit.edu 37 16 65345315 65345315 + Splice_Site SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:65345315A>T uc010cdo.1 - 5 c.479_splice c.e5+1 LOC283867_uc010cdp.1_Intron|LOC283867_uc002eol.1_Splice_Site Homo sapiens cDNA clone IMAGE:5276218. 0 OV - Ovarian serous cystadenocarcinoma(108;0.17) GGAGGTACTCACCTTCGTGAG 0.403 NA 30 73 0 0 0.012213 0 0 DNAH9 1770 broad.mit.edu 37 17 11865532 11865532 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:11865532A>G uc002gne.2 + 68 13260 c.13192A>G c.(13192-13194)ATC>GTC p.I4398V DNAH9_uc010coo.2_Missense_Mutation_p.I3616V|DNAH9_uc002gnf.2_Missense_Mutation_p.I710V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4398 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGGGCCTACATCCATGGCCT 0.517 NA 33 29 0 0 0.013726 0 0 FAM18B2 201158 broad.mit.edu 37 17 15406338 15406338 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:15406338G>A uc002goq.2 - 6 854 c.671C>T c.(670-672)CCA>CTA p.P224L CDRT4_uc010vvw.1_Intron|FAM18B2_uc010vvx.1_Intron NM_145301 NP_660344 Q96ET8 F18B2_HUMAN hypothetical protein LOC201158 isoform 1 224 integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967) ACGAAGAGGTGGAGAACTAAG 0.567 NA 16 49 0 0 0.003163 0 0 Unknown 0 broad.mit.edu 37 17 21731316 21731316 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:21731316A>T uc002gyy.3 + 2 743 c.618A>T c.(616-618)GTA>GTT p.V206V SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA AGATGGCGGTACTCTTTCTGA 0.517 NA 49 52 0 0 0.01441 0 0 ADAM11 4185 broad.mit.edu 37 17 42853010 42853010 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:42853010T>G uc002ihh.2 + 17 1451 c.1451T>G c.(1450-1452)ATG>AGG p.M484R ADAM11_uc010wjd.1_Missense_Mutation_p.M284R|ADAM11_uc002ihi.2_5'Flank NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 484 Extracellular (Potential).|Disintegrin. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) CACGACGCCATGTGCAGCGAC 0.667 NA 4 3 0 0 0.000602 0 0 HOXB6 3216 broad.mit.edu 37 17 46675197 46675197 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:46675197A>G uc002ins.1 - 3 641 c.316T>C c.(316-318)TCG>CCG p.S106P HOXB6_uc010dbh.1_Missense_Mutation_p.S106P|HOXB6_uc002int.1_Missense_Mutation_p.S106P NM_018952 NP_061825 P17509 HXB6_HUMAN homeobox B6 106 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCGCAGTCCGACTTCCGCGGC 0.667 NA 2 7 0 0 0.004672 0 0 AKAP1 8165 broad.mit.edu 37 17 55195744 55195744 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:55195744G>A uc002iux.2 + 9 2734 c.2503G>A c.(2503-2505)GAT>AAT p.D835N AKAP1_uc010wnl.1_Missense_Mutation_p.D835N|AKAP1_uc010dcm.2_Missense_Mutation_p.D835N NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 835 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) TCCTGAAGACGATGACCAGTT 0.532 NA 37 39 0 0 0.00874 0 0 DDX42 11325 broad.mit.edu 37 17 61895427 61895427 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:61895427G>A uc002jbu.2 + 19 2743 c.2486G>A c.(2485-2487)AGC>AAC p.S829N DDX42_uc002jbv.2_Missense_Mutation_p.S829N|DDX42_uc002jbx.2_Missense_Mutation_p.S565N|DDX42_uc002jby.2_Missense_Mutation_p.S375N|DDX42_uc010wps.1_Missense_Mutation_p.S197N NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 829 Gly-rich.|His-rich.|Necessary for interaction with TP53BP2. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 AATCGGCATAGCGATAGTCCA 0.587 NA 20 52 0 0 0.010504 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171198 68171198 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:68171198C>A uc010dfg.2 + 2 419 c.18C>A c.(16-18)ACC>ACA p.T6T KCNJ2_uc002jir.2_Silent_p.T6T NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 6 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) GTGTGCGAACCAACCGCTACA 0.493 NA 15 27 2.35188e-11 2.88843e-11 0.006122 1 0 SFRS2 6427 broad.mit.edu 37 17 74732914 74732914 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:74732914T>C uc002jsv.2 - 1 499 c.329A>G c.(328-330)TAC>TGC p.Y110C SFRS2_uc002jsw.1_5'Flank|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.Y110C|SFRS2_uc010wtg.1_Intron|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MIR636_hsa-mir-636|MI0003651_5'Flank|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank NM_003016 NP_003007 Q01130 SRSF2_HUMAN splicing factor, arginine/serine-rich 2 110 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity 0 ACCGCCCCCGTACCTGCGGGG 0.602 NA 9 22 0 0 0.006214 0 0 CETN1 1068 broad.mit.edu 37 18 580499 580499 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:580499C>A uc002kko.1 + 1 133 c.91C>A c.(91-93)CAA>AAA p.Q31K NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 31 EF-hand 1. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 GGATCAGAAGCAAGAAGTTCG 0.597 NA 16 12 1.3612e-06 1.50571e-06 0.003163 1 0 LAMA3 3909 broad.mit.edu 37 18 21461922 21461922 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:21461922G>T uc002kuq.2 + 40 5221 c.5135G>T c.(5134-5136)GGA>GTA p.G1712V LAMA3_uc002kur.2_Missense_Mutation_p.G1712V|LAMA3_uc002kus.3_Missense_Mutation_p.G103V|LAMA3_uc002kut.3_Missense_Mutation_p.G103V NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1712 Domain III A.|Laminin EGF-like 13. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACACCGCGGGAGAGCACTGT 0.547 NA 10 20 1.08611e-07 1.23092e-07 0.010729 1 0 SLC39A6 25800 broad.mit.edu 37 18 33704551 33704551 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:33704551C>A uc010dmy.2 - 3 1192 c.902G>T c.(901-903)AGA>ATA p.R301I SLC39A6_uc002kzj.2_Missense_Mutation_p.R26I NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 301 Extracellular (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 CAGACAAGATCTAGCATCAAT 0.383 NA 19 58 1.56452e-12 1.95112e-12 0.007413 1 0 FHOD3 80206 broad.mit.edu 37 18 34320650 34320650 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:34320650A>T uc002kzt.1 + 17 3129 c.3032A>T c.(3031-3033)GAG>GTG p.E1011V FHOD3_uc002kzs.1_Missense_Mutation_p.E1028V|FHOD3_uc010dmz.1_Missense_Mutation_p.E743V|FHOD3_uc010dnb.1_Missense_Mutation_p.E7V NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1011 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) ACCGATGAGGAGAAGCAGAAA 0.488 NA 17 27 0 0 0.004007 0 0 SOCS6 9306 broad.mit.edu 37 18 67992908 67992908 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:67992908A>T uc002lkr.1 + 2 1320 c.1004A>T c.(1003-1005)CAC>CTC p.H335L SOCS6_uc010dqq.2_Missense_Mutation_p.H335L NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 335 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) ACAGAAGCCCACGTGGCTGAA 0.488 Melanoma(84;1024 1361 24382 36583 42651) NA 13 42 0 0 0.001855 0 0 FBXO15 201456 broad.mit.edu 37 18 71793305 71793305 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:71793305T>A uc002lle.2 - 6 925 c.589A>T c.(589-591)AAT>TAT p.N197Y FBXO15_uc002llf.2_Missense_Mutation_p.N273Y NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 197 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TGACTCAGATTGTACTTTGCA 0.463 NA 27 93 0 0 0.008361 0 0 STK11 6794 broad.mit.edu 37 19 1221261 1221261 + Nonsense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:1221261A>T uc002lrl.1 + 6 1899 c.784A>T c.(784-786)AAG>TAG p.K262* NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 262 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2)|p.Y246fs*3(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAACATCTACAAGTTGTTTGA 0.582 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 12 4 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 8999521 8999521 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:8999521T>G uc002mkp.2 - 56 40858 c.40654A>C c.(40654-40656)ACC>CCC p.T13552P MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T369P|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGGCGGTAGGTGCAGATGGCA 0.592 NA 62 32 0 0 0.01441 0 0 KEAP1 9817 broad.mit.edu 37 19 10602746 10602746 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:10602746G>A uc002moq.1 - 3 988 c.832C>T c.(832-834)CCG>TCG p.P278S KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.P278S NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 278 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) AGGAAGTTCGGCGTCAACGAG 0.612 NA 35 20 0 0 0.003755 0 0 AKAP8 10270 broad.mit.edu 37 19 15484083 15484083 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:15484083C>A uc002nav.2 - 5 501 c.440G>T c.(439-441)CGC>CTC p.R147L AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_5'UTR NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 147 signal transduction nuclear matrix ovary(1)|breast(1) 2 GTAGCTGGGGCGGTAGGGGTT 0.642 GBM(190;1671 2163 3274 27186 30476) NA 29 20 1.88708e-17 2.57185e-17 0.008361 1 0 NDUFA13 51079 broad.mit.edu 37 19 19626988 19626988 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:19626988A>G uc010xqy.1 + 1 449 c.190A>G c.(190-192)ATC>GTC p.I64V TSSK6_uc002nmq.2_5'Flank|TSSK6_uc002nmr.2_5'Flank|NDUFA13_uc002nms.2_Missense_Mutation_p.I64V|NDUFA13_uc010xqx.1_Missense_Mutation_p.I64V NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha Error:Variant_position_missing_in_Q9P0J0_after_alignment apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) CGCCACACTCATCATGGCGGT 0.632 NA 4 43 0 0 0.009096 0 0 ZNF536 9745 broad.mit.edu 37 19 31040381 31040381 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:31040381C>T uc002nsu.1 + 4 3993 c.3855C>T c.(3853-3855)AGC>AGT p.S1285S ZNF536_uc010edd.1_Silent_p.S1285S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TTGCAAGTAGCACAGCAAATT 0.493 NA 41 59 0 0 0.00874 0 0 ZNF607 84775 broad.mit.edu 37 19 38189117 38189117 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:38189117G>T uc002ohc.1 - 5 2511 c.1915C>A c.(1915-1917)CAT>AAT p.H639N ZNF607_uc002ohb.1_Missense_Mutation_p.H638N NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 639 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) CCATCAGCATGAACGCTTTCA 0.378 NA 61 67 1.45723e-30 2.1298e-30 0.01441 1 0 CLPTM1 1209 broad.mit.edu 37 19 45488522 45488522 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:45488522G>T uc002pai.2 + 6 648 c.633G>T c.(631-633)CTG>CTT p.L211L CLPTM1_uc010ejv.1_Silent_p.L109L|CLPTM1_uc010xxf.1_Silent_p.L109L|CLPTM1_uc010xxg.1_Silent_p.L197L NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 211 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CCAAGAACCTGCTGACAGGAG 0.537 NA 9 10 3.86212e-05 4.20022e-05 0.008291 1 0 PLA2G4C 8605 broad.mit.edu 37 19 48602932 48602932 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:48602932C>A uc002phx.2 - 5 841 c.443G>T c.(442-444)AGA>ATA p.R148I PLA2G4C_uc002phw.2_Missense_Mutation_p.R83I|PLA2G4C_uc010elr.2_Missense_Mutation_p.R148I|PLA2G4C_uc010xzd.1_Missense_Mutation_p.R158I|PLA2G4C_uc002phy.3_Missense_Mutation_p.R148I NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 148 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) ACTTACTTCTCTGGTTTGCTT 0.522 NA 48 18 5.2432e-18 7.23741e-18 0.01441 1 0 RASIP1 54922 broad.mit.edu 37 19 49224080 49224080 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:49224080C>T uc002pki.2 - 12 3064 c.2867G>A c.(2866-2868)GGG>GAG p.G956E MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.G217E NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 956 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CACGGGAGGCCCATGGCGATA 0.612 NA 95 44 0 0 0.01441 0 0 ZNF835 90485 broad.mit.edu 37 19 57176448 57176448 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:57176448A>T uc010ygo.1 - 2 185 c.185T>A c.(184-186)GTG>GAG p.V62E ZNF835_uc010ygn.1_Missense_Mutation_p.V40E NM_001005850 NP_001005850 zinc finger protein 835 p.V62V(1) pancreas(3)|skin(1) 4 CTTGCAGGCCACGGCCTCTGG 0.597 NA 22 14 0 0 0.014323 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881780 108881780 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:108881780C>A uc010ywo.1 + 7 888 c.888C>A c.(886-888)AGC>AGA p.S296R NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 296 cytoplasm alcohol sulfotransferase activity skin(1) 1 TGGCAGGAAGCACCCTAACCT 0.463 NA 18 43 9.16793e-09 1.06138e-08 0.00499 1 0 PSD4 23550 broad.mit.edu 37 2 113955142 113955142 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:113955142G>A uc002tjc.2 + 13 2571 c.2388G>A c.(2386-2388)ACG>ACA p.T796T PSD4_uc002tjd.2_Silent_p.T417T|PSD4_uc002tje.2_Silent_p.T767T|PSD4_uc002tjf.2_Silent_p.T417T|PSD4_uc002tjg.2_5'UTR|PSD4_uc010yxs.1_Silent_p.A27A|PSD4_uc002tjh.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 796 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CTGGAACAGCGCCATGGGGCA 0.547 NA 20 28 0 0 0.014323 0 0 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 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 5 10 0 0 0.000602 0 0 GPR148 344561 broad.mit.edu 37 2 131486911 131486911 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:131486911A>T uc002trv.1 + 1 189 c.187A>T c.(187-189)ACA>TCA p.T63S NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 63 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) GGCTGCAGCCACACTGGCTGT 0.632 NA 32 36 0 0 0.012213 0 0 NCKAP5 344148 broad.mit.edu 37 2 133636466 133636466 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:133636466C>G uc002ttp.2 - 9 977 c.603G>C c.(601-603)TTG>TTC p.L201F NCKAP5_uc002ttq.2_Missense_Mutation_p.L201F NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 201 Potential. protein binding 0 TTTCATTCTCCAAAGCCAACG 0.403 NA 18 51 0 0 0.006122 0 0 LCT 3938 broad.mit.edu 37 2 136562352 136562352 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:136562352G>A uc002tuu.1 - 10 4460 c.4449C>T c.(4447-4449)GCC>GCT p.A1483A NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1483 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GCTGGATGCTGGCGGCCAGCA 0.562 NA 14 51 0 0 0.004007 0 0 LRP1B 53353 broad.mit.edu 37 2 141294160 141294160 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:141294160C>A uc002tvj.1 - 46 8604 c.7632G>T c.(7630-7632)CTG>CTT p.L2544L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2544 Extracellular (Potential).|LDL-receptor class A 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACAGTAGAGCAGTTTTTCAT 0.408 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 51 65 4.86159e-25 6.9176e-25 0.01441 1 0 DLX2 1746 broad.mit.edu 37 2 172965613 172965613 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:172965613C>G uc002uhn.2 - 3 857 c.645G>C c.(643-645)GAG>GAC p.E215D NM_004405 NP_004396 Q07687 DLX2_HUMAN distal-less homeobox 2 215 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCGAGGGGATCTCACCACTTT 0.577 GBM(188;775 2993 11256 23072) NA 8 39 0 0 0.00308 0 0 WIPF1 7456 broad.mit.edu 37 2 175437061 175437061 + Silent SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:175437061T>G uc002uiy.2 - 6 804 c.472A>C c.(472-474)AGA>CGA p.R158R uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.R158R|WIPF1_uc010fqt.1_Silent_p.R158R|WIPF1_uc002ujc.1_Silent_p.R158R|WIPF1_uc002uiz.2_Silent_p.R158R|WIPF1_uc002ujb.1_Silent_p.R158R|WIPF1_uc010zep.1_Silent_p.R158R NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 158 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GGACCACTTCTGTGGCCTGGA 0.602 NA 18 64 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179396045 179396045 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:179396045A>T uc010zfg.1 - 307 97817 c.97593T>A c.(97591-97593)TCT>TCA p.S32531S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S26226S|TTN_uc010zfi.1_Silent_p.S26159S|TTN_uc010zfj.1_Silent_p.S26034S|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33458 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) CTGCAGATGCAGAGTGTTCAT 0.408 NA 61 70 0 0 0.01441 0 0 TTN 7273 broad.mit.edu 37 2 179584097 179584097 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:179584097C>A uc010zfg.1 - 80 20512 c.20288G>T c.(20287-20289)CGA>CTA p.R6763L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3424L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7690 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) GCCAGAGACTCGGCACTCCAA 0.517 NA 31 95 1.08312e-15 1.44565e-15 0.009535 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801006 185801006 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:185801006G>T uc002uph.2 + 4 1477 c.883G>T c.(883-885)GAG>TAG p.E295* NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 295 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TCAAACTCAAGAGATAAAAGA 0.348 NA 38 34 1.36161e-19 1.9039e-19 0.004289 1 0 FAM171B 165215 broad.mit.edu 37 2 187627263 187627263 + Nonsense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:187627263C>T uc002ups.2 + 8 2306 c.2194C>T c.(2194-2196)CAG>TAG p.Q732* FAM171B_uc002upr.1_Nonsense_Mutation_p.Q699*|FAM171B_uc002upt.2_Nonsense_Mutation_p.Q201* NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 732 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 AAGCATGCATCAGCCCAAGAT 0.483 NA 5 85 0 0 0.000602 0 0 MARS2 92935 broad.mit.edu 37 2 198570930 198570930 + Silent SNP G G T rs144114997 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:198570930G>T uc002uuq.2 + 1 844 c.801G>T c.(799-801)CCG>CCT p.P267P uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 267 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) GGGGCATTCCGGTGCCCGGGG 0.547 NA 31 52 2.61193e-14 3.37462e-14 0.009535 1 0 SGOL2 151246 broad.mit.edu 37 2 201436615 201436615 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:201436615G>C uc002uvw.2 + 7 1659 c.1546G>C c.(1546-1548)GAG>CAG p.E516Q SGOL2_uc010zhd.1_Missense_Mutation_p.E516Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E516Q NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 516 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 ATTTCACCAGGAGAGTAAATT 0.313 NA 48 51 0 0 0.01441 0 0 RQCD1 9125 broad.mit.edu 37 2 219452361 219452361 + Silent SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:219452361A>C uc010zkh.1 + 5 483 c.483A>C c.(481-483)ACA>ACC p.T161T RQCD1_uc002vih.1_Silent_p.T161T|RQCD1_uc010zki.1_Silent_p.T193T NM_005444 NP_005435 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog 161 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(1)|skin(1) 2 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TATTAACAACAGAAATTATCC 0.303 NA 9 17 0 0 0.006214 0 0 OBSL1 23363 broad.mit.edu 37 2 220432677 220432677 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:220432677G>A uc010fwk.2 - 3 1354 c.1297C>T c.(1297-1299)CGC>TGC p.R433C OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R433C|OBSL1_uc002vmj.2_Missense_Mutation_p.R20C NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 433 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGGGGCAGGCGCTTCAGGATG 0.637 NA 10 35 0 0 0.006214 0 0 PAX3 5077 broad.mit.edu 37 2 223160317 223160317 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:223160317G>T uc010fwo.2 - 3 747 c.381C>A c.(379-381)GGC>GGA p.G127G PAX3_uc002vmt.1_Silent_p.G127G|PAX3_uc002vmy.1_Silent_p.G126G|PAX3_uc002vmv.1_Silent_p.G127G|PAX3_uc002vmw.1_Silent_p.G127G|PAX3_uc002vmx.1_Silent_p.G127G|PAX3_uc002vmz.1_Silent_p.G127G|PAX3_uc002vna.1_Silent_p.G127G|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 127 Paired. apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGAACATGCCCGGGTTCT 0.542 NA T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 17 58 3.32936e-07 3.73397e-07 0.006122 1 0 CPXM1 56265 broad.mit.edu 37 20 2774857 2774857 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:2774857C>A uc002wgu.2 - 14 2248 c.2184G>T c.(2182-2184)CGG>CGT p.R728R CPXM1_uc010gas.2_Silent_p.R654R NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 728 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 GTCCCCTTAGCCGCTCCAGGC 0.612 NA 29 69 2.08457e-15 2.74823e-15 0.010818 1 0 SPTLC3 55304 broad.mit.edu 37 20 13055137 13055137 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:13055137A>T uc002wod.1 + 4 888 c.599A>T c.(598-600)CAT>CTT p.H200L NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 200 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) AGCACCAGGCATGAAATGGGT 0.423 NA 73 109 0 0 0.01441 0 0 BPI 671 broad.mit.edu 37 20 36935979 36935979 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:36935979G>A uc002xib.2 + 2 215 c.153G>A c.(151-153)CAG>CAA p.Q51Q NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 51 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) CCAGCCAGCAGGGGACGGCCG 0.592 NA 36 82 0 0 0.004878 0 0 PLCG1 5335 broad.mit.edu 37 20 39801184 39801184 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:39801184G>A uc002xjp.1 + 26 3150 c.3029G>A c.(3028-3030)CGC>CAC p.R1010H PLCG1_uc002xjo.1_Missense_Mutation_p.R1010H|PLCG1_uc010zwe.1_Missense_Mutation_p.R636H NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 1010 PI-PLC Y-box. 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) CAGCTCTCCCGCATCTACCCC 0.542 NA 3 39 0 0 0.004672 0 0 SLC12A5 57468 broad.mit.edu 37 20 44682333 44682333 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:44682333C>A uc010zxl.1 + 20 2809 c.2733C>A c.(2731-2733)GTC>GTA p.V911V SLC12A5_uc002xrb.2_Silent_p.V888V NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 911 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGCGGAGGTCGAGGTGGTGG 0.542 NA 51 100 1.0442e-30 1.54007e-30 0.01441 1 0 TFAP2C 7022 broad.mit.edu 37 20 55206867 55206867 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:55206867G>T uc002xya.2 + 3 784 c.541G>T c.(541-543)GAC>TAC p.D181Y TFAP2C_uc010zzi.1_Missense_Mutation_p.D12Y NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 181 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) CCAGAATGTCGACGACCAGCA 0.557 NA 27 47 4.59853e-10 5.46075e-10 0.005443 1 0 TPTE 7179 broad.mit.edu 37 21 10942750 10942750 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:10942750T>A uc002yip.1 - 13 1059 c.691A>T c.(691-693)ACA>TCA p.T231S TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T213S|TPTE_uc002yir.1_Missense_Mutation_p.T193S|TPTE_uc010gkv.1_Missense_Mutation_p.T93S NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 231 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCATCCCTTGTGTATCGCCTT 0.313 NA 76 437 0 0 0.01441 0 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986046 31986046 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:31986046C>T uc002yop.2 - 1 178 c.178G>A c.(178-180)GGC>AGC p.G60S KRTAP20-1_uc011ade.1_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 60 cytosol|intermediate filament 0 CATCCATAGCCATAGCCACAG 0.562 NA 36 128 0 0 0.003755 0 0 SLC5A3 6526 broad.mit.edu 37 21 35469090 35469090 + Silent SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:35469090T>A uc002yto.2 + 2 2105 c.1593T>A c.(1591-1593)CTT>CTA p.L531L MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 531 Helical; (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 TTGTGAGCCTTCTCACACCAC 0.468 NA 26 32 0 0 0.005443 0 0 DIP2A 23181 broad.mit.edu 37 21 47970476 47970476 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:47970476G>T uc002zjo.2 + 23 2841 c.2658G>T c.(2656-2658)CAG>CAT p.Q886H DIP2A_uc011afy.1_Missense_Mutation_p.Q822H|DIP2A_uc011afz.1_Missense_Mutation_p.Q882H NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 886 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCATCCACCAGGTGGGCGTGT 0.582 NA 15 14 1.37285e-15 1.82482e-15 0.004007 1 0 SNRPD3 6634 broad.mit.edu 37 22 24964111 24964112 + Missense_Mutation DNP GG GG CT TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:24964111_24964112GG>CT uc003aam.1 + 3 726_727 c.286_287GG>CT c.(286-288)GGC>CTC p.G96L SNRPD3_uc011aju.1_Missense_Mutation_p.G96L NM_004175 NP_004166 P62318 SMD3_HUMAN small nuclear ribonucleoprotein polypeptide D3 96 Arg/Lys-rich (basic). histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding ovary(1) 1 CTCAGGGGCTGGCCGAGGAAAA 0.455 NA 26 38 0 0 0.004672 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747058 26747058 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:26747058C>A uc003acb.2 + 12 2604 c.2448C>A c.(2446-2448)ACC>ACA p.T816T SEZ6L_uc003acc.2_Silent_p.T816T|SEZ6L_uc011akc.1_Silent_p.T816T|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Silent_p.T816T|SEZ6L_uc003ace.2_Silent_p.T816T|SEZ6L_uc003acf.1_Silent_p.T589T|SEZ6L_uc010gvc.1_Silent_p.T589T|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 816 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 ATCACTCGACCCGCTTAATTT 0.542 NA 28 48 7.26314e-15 9.42167e-15 0.007291 1 0 INPP5J 27124 broad.mit.edu 37 22 31523954 31523954 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:31523954G>T uc003aju.3 + 7 1897 c.1805G>T c.(1804-1806)GGG>GTG p.G602V INPP5J_uc003ajv.3_Missense_Mutation_p.G235V|INPP5J_uc003ajs.3_Missense_Mutation_p.G235V|INPP5J_uc011alk.1_Missense_Mutation_p.G535V|INPP5J_uc010gwg.2_Missense_Mutation_p.G167V|INPP5J_uc003ajw.2_Missense_Mutation_p.G38V|INPP5J_uc003ajt.3_Missense_Mutation_p.G234V|INPP5J_uc003ajx.2_5'UTR|INPP5J_uc003ajy.2_5'UTR|INPP5J_uc003ajz.2_5'UTR NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 602 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 TTCTGGTTCGGGGACCTGAAC 0.587 NA 12 28 4.3838e-07 4.88265e-07 0.001855 1 0 APOBEC3G 60489 broad.mit.edu 37 22 39479766 39479766 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:39479766C>A uc003awx.2 + 5 954 c.612C>A c.(610-612)TTC>TTA p.F204L APOBEC3G_uc003awy.2_Missense_Mutation_p.F137L NM_021822 NP_068594 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 204 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Melanoma(58;0.04) CATTCACTTTCAACTTTAACA 0.547 NA 31 41 4.31634e-10 5.16362e-10 0.012213 1 0 KIAA1644 85352 broad.mit.edu 37 22 44681338 44681338 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:44681338G>T uc003bet.2 - 4 702 c.569C>A c.(568-570)CCG>CAG p.P190Q NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN hypothetical protein LOC85352 precursor 190 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GGTCATCAGCGGTGGGCTGTG 0.617 NA 24 70 3.73988e-18 5.18447e-18 0.00632 1 0 GTSE1 51512 broad.mit.edu 37 22 46712020 46712020 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:46712020G>T uc011aqy.1 + 7 1355 c.1143G>T c.(1141-1143)CTG>CTT p.L381L GTSE1_uc011aqz.1_Silent_p.L228L|GTSE1_uc003bhl.1_Silent_p.L6L|GTSE1_uc003bhm.1_Silent_p.L6L NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 362 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CCGCCATGCTGCGGCCAGCTC 0.592 GBM(153;542 1915 12487 29016 50495) NA 26 37 5.71845e-15 7.47797e-15 0.005524 1 0 MTMR14 64419 broad.mit.edu 37 3 9730437 9730437 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:9730437G>A uc003brz.2 + 15 1417 c.1293G>A c.(1291-1293)CTG>CTA p.L431L MTMR14_uc003bsa.2_Silent_p.L431L|MTMR14_uc003bsb.2_Silent_p.L431L|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Silent_p.L185L|MTMR14_uc003bsc.2_RNA NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN jumpy isoform 2 431 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(99;0.227) TCTGCATGCTGAGTGAGTCCT 0.498 NA 5 68 0 0 0.000602 0 0 WNT7A 7476 broad.mit.edu 37 3 13860915 13860915 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:13860915C>T uc003bye.1 - 4 881 c.576G>A c.(574-576)CTG>CTA p.L192L NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 192 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 TGTTCTCCTCCAGGATCTGCA 0.657 NA 19 56 0 0 0.008871 0 0 GALNTL2 117248 broad.mit.edu 37 3 16237266 16237266 + Splice_Site SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:16237266G>A uc003car.3 + 2 1015 c.540_splice c.e2-1 p.L180_splice GALNTL2_uc003caq.3_Splice_Site NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CTTCCCTGCAGGTGTCTGCAG 0.597 NA 10 33 0 0 0.008291 0 0 DCLK3 85443 broad.mit.edu 37 3 36779060 36779060 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:36779060T>C uc003cgi.2 - 2 1582 c.1091A>G c.(1090-1092)GAT>GGT p.D364G NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 364 Protein kinase.|ATP (By similarity). cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 AAAGTTCCCATCCCCAATGAC 0.577 NA 19 56 0 0 0.010504 0 0 PTPRG 5793 broad.mit.edu 37 3 62063885 62063885 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:62063885G>A uc003dlb.2 + 5 1287 c.568G>A c.(568-570)GCA>ACA p.A190T PTPRG_uc003dlc.2_Missense_Mutation_p.A190T NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 190 Extracellular (Potential).|Alpha-carbonic anhydrase. 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) CTTTCAAACCGCAATTTCTGA 0.274 NA 17 37 0 0 0.007413 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806880 97806880 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:97806880C>G uc011bgs.1 + 1 864 c.864C>G c.(862-864)AAC>AAG p.N288K NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CCCTGCTAAACCCATTTATTT 0.358 NA 13 35 0 0 0.001855 0 0 BOC 91653 broad.mit.edu 37 3 112993230 112993230 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:112993230C>A uc003dzx.2 + 9 1864 c.1243C>A c.(1243-1245)CCA>ACA p.P415T BOC_uc003dzy.2_Missense_Mutation_p.P415T|BOC_uc003dzz.2_Missense_Mutation_p.P415T|BOC_uc003eab.2_Missense_Mutation_p.P116T NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 415 Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) AGGCATAACCCCAAGGCTATG 0.552 NA 22 62 5.35356e-11 6.50075e-11 0.00278 1 0 IQCB1 9657 broad.mit.edu 37 3 121547406 121547406 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:121547406G>A uc010hre.1 - 4 389 c.174C>T c.(172-174)CTC>CTT p.L58L IQCB1_uc003eek.2_Silent_p.L58L|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 58 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) AATATTGAATGAGATCATAAC 0.328 NA 22 39 0 0 0.012319 0 0 COL6A6 131873 broad.mit.edu 37 3 130284398 130284398 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:130284398C>A uc010htl.2 + 3 1253 c.1222C>A c.(1222-1224)CGG>AGG p.R408R NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 408 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen p.R408W(1) ovary(6)|central_nervous_system(1)|pancreas(1) 8 GAAGAAGCTGCGGAACCAAAT 0.463 NA 8 13 5.18039e-06 5.71081e-06 0.00308 1 0 ATR 545 broad.mit.edu 37 3 142272808 142272808 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:142272808T>A uc003eux.3 - 11 2513 c.2391A>T c.(2389-2391)GAA>GAT p.E797D NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 797 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CTGTTTCATCTTCTCTAAAAT 0.308 NA Other_conserved_DNA_damage_response_genes 9 27 0 0 0.004482 0 0 ZIC4 84107 broad.mit.edu 37 3 147108741 147108741 + Silent SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:147108741C>G uc003ewd.1 - 4 1254 c.981G>C c.(979-981)GCG>GCC p.A327A ZIC4_uc003ewc.1_Silent_p.A257A|ZIC4_uc011bno.1_Silent_p.A377A NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 327 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CGGCGGTACGCGCCGCCACCG 0.701 NA 10 14 0 0 0.010729 0 0 GOLIM4 27333 broad.mit.edu 37 3 167813020 167813020 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:167813020C>A uc003ffe.2 - 1 398 c.54G>T c.(52-54)CTG>CTT p.L18L GOLIM4_uc011bpe.1_Silent_p.L18L|GOLIM4_uc011bpf.1_Silent_p.L18L|GOLIM4_uc011bpg.1_Silent_p.L18L NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 18 Helical; Signal-anchor for type II membrane protein; (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 CGGTCAGCAGCAGCAGCGTCT 0.647 NA 11 19 2.27111e-07 2.56493e-07 0.013537 1 0 CCDC39 339829 broad.mit.edu 37 3 180372601 180372601 + Nonsense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:180372601A>T uc010hxe.2 - 7 994 c.879T>A c.(877-879)TGT>TGA p.C293* CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 293 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATGCCGTTCTACATTTTAAAA 0.358 NA 13 20 0 0 0.00245 0 0 GABRA2 2555 broad.mit.edu 37 4 46252494 46252494 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:46252494G>A uc003gxc.3 - 9 1860 c.1187C>T c.(1186-1188)CCC>CTC p.P396L GABRA2_uc010igc.2_Missense_Mutation_p.P396L|GABRA2_uc011bzc.1_Missense_Mutation_p.P401L NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 396 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTCTTGTTGGGTTCTGGCGT 0.428 NA 62 178 0 0 0.01441 0 0 SCFD2 152579 broad.mit.edu 37 4 54231754 54231754 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:54231754G>C uc003gzu.2 - 1 489 c.355C>G c.(355-357)CCA>GCA p.P119A SCFD2_uc010igm.2_Missense_Mutation_p.P119A NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 119 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) GCCGCCGCTGGGACATGATTA 0.597 NA 21 26 0 0 0.012319 0 0 IL2 3558 broad.mit.edu 37 4 123377319 123377319 + Nonsense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:123377319T>A uc003ier.2 - 2 242 c.187A>T c.(187-189)AAG>TAG p.K63* NM_000586 NP_000577 P60568 IL2_HUMAN interleukin 2 precursor 63 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity skin(1) 1 LUSC - Lung squamous cell carcinoma(721;0.185) ATGTAAAACTTAAATGTGAGC 0.284 NA T TNFRSF17 intestinal T-cell lymphoma 15 41 0 0 0.003163 0 0 PCDH18 54510 broad.mit.edu 37 4 138442835 138442835 + Missense_Mutation SNP G G T rs139751813 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:138442835G>T uc003ihe.3 - 4 3143 c.2756C>A c.(2755-2757)ACG>AAG p.T919K PCDH18_uc003ihf.3_Missense_Mutation_p.T911K|PCDH18_uc011cgz.1_Missense_Mutation_p.T130K|PCDH18_uc003ihg.3_Missense_Mutation_p.T698K|PCDH18_uc011cha.1_Missense_Mutation_p.T99K NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 919 Interaction with DAB1 (By similarity).|Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GCACTCCTCCGTGCAGAGTCT 0.433 NA 67 71 3.00472e-47 4.62155e-47 0.01441 1 0 RBM46 166863 broad.mit.edu 37 4 155720682 155720682 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:155720682G>A uc003ioo.2 + 4 1541 c.1368G>A c.(1366-1368)AAG>AAA p.K456K RBM46_uc011cim.1_Silent_p.K456K|RBM46_uc003iop.1_Silent_p.K456K NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 456 nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) AAGATGCAAAGGAACTGGCAG 0.323 NA 3 18 0 0 0.009096 0 0 NAF1 92345 broad.mit.edu 37 4 164087830 164087830 + Missense_Mutation SNP T T A rs113104155 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:164087830T>A uc003iqj.2 - 1 244 c.50A>T c.(49-51)AAT>ATT p.N17I NAF1_uc010iqw.1_Missense_Mutation_p.N17I|NAF1_uc003iqk.2_RNA NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 17 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) GTCGGTGCCATTGAATTTCAG 0.657 NA 17 19 0 0 0.00499 0 0 NPY1R 4886 broad.mit.edu 37 4 164247218 164247218 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:164247218C>A uc003iqm.1 - 2 755 c.489G>T c.(487-489)TGG>TGT p.W163C NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 163 Helical; Name=4; (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGCAAGGACCCAAATCACAG 0.438 NA 57 44 1.59911e-31 2.39126e-31 0.01441 1 0 CASP3 836 broad.mit.edu 37 4 185553059 185553059 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:185553059C>A uc003iwh.2 - 6 606 c.343G>T c.(343-345)GTT>TTT p.V115F CASP3_uc003iwg.2_Missense_Mutation_p.V115F|CASP3_uc003iwi.2_Missense_Mutation_p.V115F NM_004346 NP_004337 P42574 CASP3_HUMAN caspase 3 preproprotein 115 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding kidney(1) 1 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) AGCACACAAACAAAACTGCTC 0.338 NA 38 73 6.48837e-15 8.45057e-15 0.010771 1 0 SLC12A7 10723 broad.mit.edu 37 5 1064054 1064054 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:1064054C>A uc003jbu.2 - 20 2710 c.2644G>T c.(2644-2646)GCC>TCC p.A882S NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 882 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCCACCTGGGCCACGGTGAAG 0.627 NA 23 40 4.16121e-05 4.51031e-05 0.00278 1 0 PRDM9 56979 broad.mit.edu 37 5 23527869 23527869 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:23527869G>T uc003jgo.2 + 11 2854 c.2672G>T c.(2671-2673)AGG>ATG p.R891M NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 891 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TACGTCTGCAGGGAGGATGAG 0.522 NA HNSCC(3;0.000094) 17 47 7.05477e-17 9.45514e-17 0.00499 1 0 IL7R 3575 broad.mit.edu 37 5 35876359 35876359 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:35876359C>A uc003jjs.2 + 8 1240 c.1151C>A c.(1150-1152)TCT>TAT p.S384Y IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 384 Cytoplasmic (Potential). S -> P (in Ref. 7; AAH67537). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATTCTCTCCTCTTCCAGGTCC 0.542 NA 31 38 1.56442e-22 2.20658e-22 0.012213 1 0 LMBRD2 92255 broad.mit.edu 37 5 36122394 36122394 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:36122394T>A uc003jkb.1 - 9 1523 c.1108A>T c.(1108-1110)AAT>TAT p.N370Y NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 370 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATGTAGGATTATAAAAATAT 0.294 NA 17 27 0 0 0.007413 0 0 PAIP1 10605 broad.mit.edu 37 5 43537010 43537010 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:43537010T>A uc003job.2 - 6 1130 c.883A>T c.(883-885)ATT>TTT p.I295F PAIP1_uc003joa.2_Missense_Mutation_p.I216F|PAIP1_uc010ivp.2_Missense_Mutation_p.I216F|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.I183F NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 295 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) ACCTGAAGAATATCTGCTCTT 0.338 NA 6 65 0 0 0.001984 0 0 ANKRD55 79722 broad.mit.edu 37 5 55472081 55472081 + Silent SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:55472081A>G uc003jqu.2 - 4 362 c.210T>C c.(208-210)TCT>TCC p.S70S NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 69 ANK 2. skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) CTTGACGTCCAGAAACCGCAT 0.493 NA 42 108 0 0 0.010771 0 0 PIK3R1 5295 broad.mit.edu 37 5 67575530 67575530 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:67575530C>T uc003jva.2 + 5 1163 c.603C>T c.(601-603)GCC>GCT p.A201A PIK3R1_uc003jvb.2_Silent_p.A201A NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 201 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTCCAGCAGCCGTTTACAGTG 0.433 NA Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 43 58 0 0 0.01441 0 0 TSLP 85480 broad.mit.edu 37 5 110407631 110407631 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:110407631A>T uc003kpb.2 + 1 242 c.43A>T c.(43-45)AGG>TGG p.R15W TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 15 extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) AGTTTCTTTCAGGAAAATCTT 0.408 NA 51 67 0 0 0.01441 0 0 FBN2 2201 broad.mit.edu 37 5 127782228 127782228 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:127782228C>G uc003kuu.2 - 7 1337 c.898G>C c.(898-900)GAA>CAA p.E300Q FBN2_uc003kuv.2_Missense_Mutation_p.E267Q|FBN2_uc003kuw.3_Missense_Mutation_p.E300Q|FBN2_uc003kux.1_Missense_Mutation_p.E300Q NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 300 EGF-like 4; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CATCTGCATTCAAAAGAGCCC 0.428 NA 38 67 0 0 0.005524 0 0 RAPGEF6 51735 broad.mit.edu 37 5 131080266 131080266 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:131080266T>C uc003kvp.1 - 2 352 c.210A>G c.(208-210)ATA>ATG p.I70M FNIP1_uc003kvs.1_Missense_Mutation_p.I70M|FNIP1_uc003kvt.1_Missense_Mutation_p.I70M|FNIP1_uc010jdm.1_Missense_Mutation_p.I70M|FNIP1_uc003kvu.2_Missense_Mutation_p.I70M NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CCGATACTGATATGTCCTCAT 0.368 Melanoma(168;435 1955 13113 13877 23213) NA 38 51 0 0 0.011902 0 0 C5orf20 140947 broad.mit.edu 37 5 134782574 134782574 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:134782574G>T uc003lav.2 - 1 465 c.225C>A c.(223-225)ACC>ACA p.T75T NM_130848 NP_570900 Q8TF63 DCNP1_HUMAN dendritic cell nuclear protein 1 75 nucleus 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGCTGGCAAGGTTTTGTTCC 0.602 NA 13 43 1.05317e-09 1.23251e-09 0.00245 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215502 140215502 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140215502G>T uc003lhq.2 + 1 1534 c.1534G>T c.(1534-1536)GCG>TCG p.A512S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A512S NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 512 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCAGTGCACGCGGAGAGCGG 0.701 NSCLC(160;258 2013 5070 22440 28951) NA 76 96 3.83088e-25 5.4751e-25 0.01441 1 0 PCDHB3 56132 broad.mit.edu 37 5 140480970 140480970 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140480970T>A uc003lio.2 + 1 737 c.737T>A c.(736-738)CTC>CAC p.L246H uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 246 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACAGCCGCTCTATGAGGTT 0.493 NA 53 65 0 0 0.01441 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481614 140481614 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140481614C>T uc003lio.2 + 1 1381 c.1381C>T c.(1381-1383)CGC>TGC p.R461C uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 461 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGTTCGTCCGCGAGAACAA 0.602 NA 113 111 0 0 0.01441 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580431 140580431 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140580431G>C uc003liy.2 + 1 1084 c.1084G>C c.(1084-1086)GAG>CAG p.E362Q PCDHB11_uc011daj.1_5'UTR NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 362 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACGCCAGAGACCGTGGT 0.408 NA 38 79 0 0 0.004878 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720243 140720243 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140720243A>T uc003ljk.1 + 1 1890 c.1705A>T c.(1705-1707)ACA>TCA p.T569S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T569S NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 569 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCTTCCCCACAGACGGTTC 0.637 NA 100 153 0 0 0.01441 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140778645 140778645 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140778645G>T uc003lkf.1 + 1 951 c.951G>T c.(949-951)GGG>GGT p.G317G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.G317G NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 317 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTAGAAGGGAGGGATGGTG 0.383 NA 69 98 2.69673e-31 4.01403e-31 0.01441 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140870351 140870351 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140870351G>T uc003lla.1 + 1 1544 c.1544G>T c.(1543-1545)CGG>CTG p.R515L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.R515L NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 515 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGATGGACGGATCTTTGCC 0.547 NA 36 99 5.71845e-15 7.47797e-15 0.005524 1 0 KCTD16 57528 broad.mit.edu 37 5 143587020 143587020 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:143587020T>G uc003lnm.1 + 3 1372 c.743T>G c.(742-744)GTG>GGG p.V248G KCTD16_uc003lnn.1_Missense_Mutation_p.V248G NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 248 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TTCCACATGGTGGCCTGTAAC 0.428 NA 71 77 0 0 0.01441 0 0 SLIT3 6586 broad.mit.edu 37 5 168671714 168671714 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:168671714C>A uc003mab.2 - 3 756 c.336G>T c.(334-336)GAG>GAT p.E112D SLIT3_uc010jjg.2_Missense_Mutation_p.E112D|SLIT3_uc010jji.2_Missense_Mutation_p.E112D NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 112 LRR 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTACAGTCGCTCTAGCTGCT 0.393 Ovarian(29;311 847 10864 17279 24903) NA 21 28 0.00152264 0.001602 0.010504 1 0 SLC34A1 6569 broad.mit.edu 37 5 176824901 176824901 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:176824901C>T uc003mgk.3 + 13 1635 c.1534C>T c.(1534-1536)CGC>TGC p.R512C NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 512 Cytoplasmic (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCAAGTACCGCTGGTTTGC 0.607 NA 62 62 0 0 0.01441 0 0 FAM153A 285596 broad.mit.edu 37 5 177158588 177158588 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:177158588G>A uc010jkp.1 - 17 1034 c.613C>T c.(613-615)CCA>TCA p.P205S FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_RNA|FAM153A_uc003mic.2_Missense_Mutation_p.P205S NM_173663 NP_775934 Q9UHL3 F153A_HUMAN hypothetical protein LOC285596 205 skin(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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) AGCGTGGCTGGGTCCACCTGC 0.463 NA 31 17 0 0 0.004289 0 0 MSH5 4439 broad.mit.edu 37 6 31727709 31727709 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:31727709C>A uc003nwv.1 + 18 1721 c.1642C>A c.(1642-1644)CGT>AGT p.R548S MSH5_uc003nwt.1_Missense_Mutation_p.R565S|MSH5_uc003nwu.1_Missense_Mutation_p.R548S|MSH5_uc003nww.1_Missense_Mutation_p.R548S|MSH5_uc003nwx.1_Missense_Mutation_p.R565S|MSH5_uc011dof.1_Missense_Mutation_p.R247S|MSH5_uc003nwy.1_Missense_Mutation_p.R222S|MSH5_uc003nwz.3_RNA NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 548 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 CTCAAGGCCGCGTTACTCCCC 0.572 NA Direct_reversal_of_damage|MMR 34 59 4.31634e-10 5.16362e-10 0.012213 1 0 C6orf222 389384 broad.mit.edu 37 6 36298043 36298043 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:36298043G>C uc003oly.2 - 2 603 c.425C>G c.(424-426)CCA>CGA p.P142R NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 142 skin(2)|ovary(1)|breast(1) 4 CCTGAGGGCTGGCTCCCCTGC 0.627 NA 40 62 0 0 0.006999 0 0 PIM1 5292 broad.mit.edu 37 6 37140918 37140918 + Nonsense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:37140918C>T uc003onk.2 + 5 1184 c.754C>T c.(754-756)CAG>TAG p.Q252* PIM1_uc011dtw.1_Silent_p.A120A NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 343 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) CATCAGGGGCCAGGTTTTCTT 0.527 NA T BCL6 NHL 4 88 0 0 0.000602 0 0 C6orf138 442213 broad.mit.edu 37 6 47846599 47846599 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:47846599C>G uc011dwm.1 - 3 2015 c.1930G>C c.(1930-1932)GTT>CTT p.V644L C6orf138_uc011dwn.1_Missense_Mutation_p.V408L NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 661 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 GCAATCAGAACAGGCACTGTG 0.483 NA 45 79 0 0 0.011902 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683151 50683151 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:50683151C>T uc003paf.2 + 2 874 c.362C>T c.(361-363)GCG>GTG p.A121V TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 121 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) AATGCGCGGGCGCTCAAGTCG 0.607 NA 59 86 0 0 0.01441 0 0 HTR1E 3354 broad.mit.edu 37 6 87725995 87725995 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:87725995G>T uc003pli.2 + 2 1646 c.943G>T c.(943-945)GGT>TGT p.G315C NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 315 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GTTGATTGTGGGTCTGAGCAT 0.498 NA 71 55 7.46257e-40 1.13699e-39 0.01441 1 0 SYNE1 23345 broad.mit.edu 37 6 152473247 152473247 + Silent SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:152473247C>G uc010kiw.2 - 134 24761 c.24159G>C c.(24157-24159)CTG>CTC p.L8053L SYNE1_uc010kiv.2_Silent_p.L2577L|SYNE1_uc003qos.3_Silent_p.L2577L|SYNE1_uc003qot.3_Silent_p.L7982L|SYNE1_uc003qou.3_Silent_p.L8053L|SYNE1_uc003qop.3_Silent_p.L215L|SYNE1_uc011eez.1_Silent_p.L255L|SYNE1_uc003qoq.3_Silent_p.L255L|SYNE1_uc003qor.3_Silent_p.L953L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8053 Spectrin 29.|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) CCAGCTGCGTCAGGCACTCGT 0.542 NA HNSCC(10;0.0054) 24 43 0 0 0.004656 0 0 SDK1 221935 broad.mit.edu 37 7 3991439 3991439 + Missense_Mutation SNP G G A rs138596298 byFrequency TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:3991439G>A uc003smx.2 + 7 1176 c.1037G>A c.(1036-1038)CGC>CAC p.R346H NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 346 Ig-like C2-type 3. R -> H (in Ref. 1; AAP75619 and 2; BAB71066). cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTTGGAAGACGCCTCACCATC 0.617 NA 9 81 0 0 0.004482 0 0 PMS2 5395 broad.mit.edu 37 7 6029588 6029588 + Splice_Site SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:6029588T>C uc003spl.2 - 10 1076 c.989_splice c.e10-1 p.E330_splice PMS2_uc003spj.2_Splice_Site_p.E224_splice|PMS2_uc003spk.2_Splice_Site_p.E195_splice|PMS2_uc011jwl.1_Splice_Site_p.E195_splice|PMS2_uc010ktg.2_Splice_Site_p.E19_splice|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Splice_Site_p.E330_splice NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CAACGCATTCTAAGGCAAAAA 0.214 NA Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 18 17 0 0 0.00499 0 0 BMPER 168667 broad.mit.edu 37 7 34085917 34085918 + Splice_Site DNP GG GG TT TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:34085917_34085918GG>TT uc011kap.1 + 7 691 c.577_splice c.e7-1 p.G193_splice NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 TCTTTTCTTAGGGAGGCAGGAC 0.436 NA 28 112 0 0 0.004672 0 0 UPP1 7378 broad.mit.edu 37 7 48141551 48141551 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:48141551A>G uc003toj.2 + 6 822 c.293A>G c.(292-294)TAT>TGT p.Y98C UPP1_uc003tok.2_Missense_Mutation_p.Y98C|UPP1_uc003tol.2_Missense_Mutation_p.Y98C|UPP1_uc011kcg.1_Missense_Mutation_p.Y98C|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 98 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 TATGCCATGTATAAAGTAGGA 0.562 NA 39 44 0 0 0.010771 0 0 ABCA13 154664 broad.mit.edu 37 7 48626780 48626780 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:48626780C>G uc003toq.2 + 57 14561 c.14536C>G c.(14536-14538)CTC>GTC p.L4846V ABCA13_uc010kys.1_Missense_Mutation_p.L1921V|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L576V NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4846 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GCGCTTACACCTCGAAGCCCA 0.572 NA 12 11 0 0 0.010729 0 0 ELN 2006 broad.mit.edu 37 7 73467602 73467602 + Silent SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:73467602T>A uc003tzw.2 + 18 1150 c.1059T>A c.(1057-1059)GTT>GTA p.V353V RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Silent_p.V322V|ELN_uc003tzn.2_Silent_p.V353V|ELN_uc003tzz.2_Silent_p.V317V|ELN_uc003tzo.2_Silent_p.V339V|ELN_uc003tzp.2_Silent_p.V309V|ELN_uc003tzq.2_Silent_p.V236V|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.V353V|ELN_uc003tzt.2_Silent_p.V358V|ELN_uc003tzu.2_Silent_p.V358V|ELN_uc003tzv.2_Silent_p.V343V|ELN_uc003tzx.2_Silent_p.V343V|ELN_uc011kff.1_Silent_p.V353V|ELN_uc003tzy.2_Silent_p.V348V NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 353 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) GGATTCCAGTTGTCCCAGGTG 0.493 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 43 24 0 0 0.00874 0 0 CALCR 799 broad.mit.edu 37 7 93063564 93063564 + Splice_Site SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:93063564C>A uc003umv.1 - 14 1554 c.1293_splice c.e14+1 p.E431_splice CALCR_uc011kia.1_Splice_Site_p.E211_splice|CALCR_uc003ums.1_Splice_Site|CALCR_uc003umt.1_Splice_Site|CALCR_uc003umu.1_Splice_Site_p.E397_splice|CALCR_uc003umw.2_Splice_Site_p.E397_splice NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TGCATGCTTACCTCATTGTTG 0.358 NA 26 45 6.38683e-12 7.93441e-12 0.008361 1 0 MET 4233 broad.mit.edu 37 7 116397705 116397705 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:116397705C>G uc003vij.2 + 8 2166 c.1979C>G c.(1978-1980)ACA>AGA p.T660R MET_uc010lkh.2_Missense_Mutation_p.T660R|MET_uc011kne.1_Missense_Mutation_p.T632R|MET_uc011knf.1_Missense_Mutation_p.T660R|MET_uc011kng.1_Missense_Mutation_p.T660R|MET_uc011knh.1_Missense_Mutation_p.T660R|MET_uc011kni.1_Missense_Mutation_p.T660R|MET_uc011knj.1_Missense_Mutation_p.T230R NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 660 Extracellular (Potential).|IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CCTGTAATAACAAGTATTTCG 0.333 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 25 42 0 0 0.003954 0 0 PRSS1 5644 broad.mit.edu 37 7 142458515 142458515 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:142458515C>T uc003wak.2 + 2 167 c.150C>T c.(148-150)GGC>GGT p.G50G uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.L26F|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 50 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCTGTGGTGGCTCCCTCATCA 0.562 NA Hereditary_Pancreatitis 7 146 0 0 0.001984 0 0 TRPV5 56302 broad.mit.edu 37 7 142626165 142626165 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:142626165G>C uc003wby.1 - 5 802 c.538C>G c.(538-540)CGG>GGG p.R180G TRPV5_uc003wbz.2_Missense_Mutation_p.R180G NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 180 ANK 4.|Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) ATGAGCAGCCGCACGATCTCC 0.612 NA 17 14 0 0 0.007413 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140732 143140732 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:143140732G>T uc011ktg.1 + 1 187 c.187G>T c.(187-189)GGG>TGG p.G63W uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 63 Extracellular (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) GGTTAGCCTAGGGGCCTCTCG 0.498 NA 63 61 1.53122e-18 2.13183e-18 0.01441 1 0 GIMAP8 155038 broad.mit.edu 37 7 150174248 150174248 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:150174248G>T uc003whj.2 + 5 1708 c.1378G>T c.(1378-1380)GGG>TGG p.G460W NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 460 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CTCTATCCTGGGGAGCCTCGT 0.592 NA 20 48 6.44725e-10 7.62807e-10 0.014323 1 0 ARHGEF10 9639 broad.mit.edu 37 8 1844550 1844550 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:1844550A>G uc003wpr.2 + 14 1670 c.1492A>G c.(1492-1494)AGC>GGC p.S498G ARHGEF10_uc003wpq.1_Missense_Mutation_p.S523G|ARHGEF10_uc003wps.2_Missense_Mutation_p.S460G|ARHGEF10_uc003wpt.2_Missense_Mutation_p.S374G|ARHGEF10_uc003wpv.2_Missense_Mutation_p.S231G|ARHGEF10_uc010lre.2_Missense_Mutation_p.S178G NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 523 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GAACAATTTCAGCACAGCCGT 0.403 NA 41 57 0 0 0.006999 0 0 CSMD1 64478 broad.mit.edu 37 8 3263580 3263580 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:3263580C>A uc011kwk.1 - 15 2628 c.2238G>T c.(2236-2238)GTG>GTT p.V746V CSMD1_uc011kwj.1_Silent_p.V138V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 746 Sushi 4.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGCTCCAGACCACGTTCCCGT 0.547 NA 13 28 6.53275e-17 8.792e-17 0.00245 1 0 RP1L1 94137 broad.mit.edu 37 8 10467346 10467346 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:10467346G>T uc003wtc.2 - 4 4491 c.4262C>A c.(4261-4263)TCC>TAC p.S1421Y NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1421 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) ATCTTCCTGGGAGCCTTTCCC 0.607 NA 166 362 1.13191e-60 1.75773e-60 0.01441 1 0 KCNU1 157855 broad.mit.edu 37 8 36698451 36698451 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:36698451C>A uc010lvw.2 + 16 1720 c.1633C>A c.(1633-1635)CTC>ATC p.L545I KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 545 Segment S8.|Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCTTCCCAGGCTCTGCTTTCT 0.463 NA 10 27 1.33987e-11 1.65182e-11 0.008291 1 0 RNF5P1 286140 broad.mit.edu 37 8 38458368 38458368 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:38458368C>T uc003xly.2 - 1 408 c.351G>A c.(349-351)GGG>GGA p.G117G NR_003129 SubName: Full=Putative uncharacterized protein RNF5; 0 AGTGGAAGCCCCCGGTATCAC 0.567 NA 52 75 0 0 0.01441 0 0 ADAM2 2515 broad.mit.edu 37 8 39624758 39624758 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:39624758T>A uc003xnj.2 - 13 1300 c.1225A>T c.(1225-1227)ATT>TTT p.I409F ADAM2_uc003xnk.2_Missense_Mutation_p.I390F|ADAM2_uc011lck.1_Missense_Mutation_p.I409F|ADAM2_uc003xnl.2_Missense_Mutation_p.I283F NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 409 Extracellular (Potential).|Disintegrin. 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) GTTTCTCCAATAAGGGCACAA 0.378 NA 65 100 0 0 0.01441 0 0 MCM4 4173 broad.mit.edu 37 8 48883348 48883348 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:48883348G>T uc003xqk.1 + 12 1807 c.1712G>T c.(1711-1713)TGC>TTC p.C571F MCM4_uc003xql.1_Missense_Mutation_p.C571F|MCM4_uc011ldi.1_Missense_Mutation_p.C558F NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 571 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) AACGGCATCTGCTGTATCGAT 0.498 NA 18 34 1.67942e-08 1.93043e-08 0.006122 1 0 CHD7 55636 broad.mit.edu 37 8 61774827 61774827 + Nonsense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:61774827A>T uc003xue.2 + 36 8380 c.7903A>T c.(7903-7905)AAA>TAA p.K2635* NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2635 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAACCCTAATAAATTGGATAT 0.368 NA 11 14 0 0 0.010729 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761847 77761847 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:77761847C>T uc003yav.2 + 8 3997 c.3610C>T c.(3610-3612)CCT>TCT p.P1204S ZFHX4_uc003yau.1_Missense_Mutation_p.P1249S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1204S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1204 C2H2-type 9. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATCTGCTGTCCTCTCTGTCA 0.488 NA HNSCC(33;0.089) 10 66 0 0 0.006214 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766851 77766851 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:77766851C>A uc003yav.2 + 10 7946 c.7559C>A c.(7558-7560)TCC>TAC p.S2520Y ZFHX4_uc003yau.1_Missense_Mutation_p.S2565Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2520Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2520 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGGCCAGTTCCTCCCACACC 0.498 NA HNSCC(33;0.089) 32 52 5.60225e-13 7.01367e-13 0.009535 1 0 ZFHX4 79776 broad.mit.edu 37 8 77767876 77767876 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:77767876C>G uc003yav.2 + 10 8971 c.8584C>G c.(8584-8586)CCG>GCG p.P2862A ZFHX4_uc003yau.1_Missense_Mutation_p.P2907A|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2862A NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2862 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATAGCGGACCCGAGCTCCCC 0.502 NA HNSCC(33;0.089) 21 28 0 0 0.012319 0 0 NFKBIL2 4796 broad.mit.edu 37 8 145661513 145661513 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:145661513C>T uc011llg.1 - 17 2318 c.2303G>A c.(2302-2304)CGG>CAG p.R768Q uc011llh.1_Intron NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 768 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 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) GGCTGCCACCCGTTGTGCTGT 0.711 NA 4 9 0 0 0.001168 0 0 ZNF16 7564 broad.mit.edu 37 8 146156251 146156251 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:146156251C>T uc003zet.2 - 4 2109 c.1922G>A c.(1921-1923)CGT>CAT p.R641H ZNF16_uc003zeu.2_Missense_Mutation_p.R641H NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 641 C2H2-type 16. 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) GAGGACCGAACGCTGACTGAA 0.537 NA 49 69 0 0 0.01441 0 0 PTPRD 5789 broad.mit.edu 37 9 8340442 8340442 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:8340442C>A uc003zkk.2 - 41 5865 c.5154G>T c.(5152-5154)CAG>CAT p.Q1718H PTPRD_uc003zkp.2_Missense_Mutation_p.Q1312H|PTPRD_uc003zkq.2_Missense_Mutation_p.Q1311H|PTPRD_uc003zkr.2_Missense_Mutation_p.Q1302H|PTPRD_uc003zks.2_Missense_Mutation_p.Q1311H|PTPRD_uc003zkl.2_Missense_Mutation_p.Q1709H|PTPRD_uc003zkm.2_Missense_Mutation_p.Q1705H|PTPRD_uc003zkn.2_Missense_Mutation_p.Q1307H|PTPRD_uc003zko.2_Missense_Mutation_p.Q1308H NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1718 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCAAGGGCCCCTGGGTAGCGA 0.458 NA TSP Lung(15;0.13) 25 22 0.00047179 0.000504596 0.00333 1 0 PTPRD 5789 broad.mit.edu 37 9 8484231 8484231 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:8484231C>A uc003zkk.2 - 29 4012 c.3301G>T c.(3301-3303)GCA>TCA p.A1101S PTPRD_uc003zkp.2_Missense_Mutation_p.A690S|PTPRD_uc003zkq.2_Missense_Mutation_p.A690S|PTPRD_uc003zkr.2_Missense_Mutation_p.A685S|PTPRD_uc003zks.2_Missense_Mutation_p.A680S|PTPRD_uc003zkl.2_Missense_Mutation_p.A1092S|PTPRD_uc003zkm.2_Missense_Mutation_p.A1088S|PTPRD_uc003zkn.2_Missense_Mutation_p.A690S|PTPRD_uc003zko.2_Missense_Mutation_p.A687S NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1101 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCAGTCTTTGCCGTGACCCTG 0.473 NA TSP Lung(15;0.13) 43 38 6.5261e-18 8.96992e-18 0.00874 1 0 PRKACG 5568 broad.mit.edu 37 9 71628335 71628335 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:71628335A>G uc004agy.2 - 1 705 c.674T>C c.(673-675)CTA>CCA p.L225P NM_002732 NP_002723 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, 225 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity ovary(1)|pancreas(1)|skin(1) 3 GAGCACCCCTAGGGCCCACCA 0.612 Esophageal Squamous(110;2236 2623 32146) NA 25 23 0 0 0.00333 0 0 TRPM3 80036 broad.mit.edu 37 9 73151003 73151003 + Missense_Mutation SNP G G A rs41287375 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:73151003G>A uc004aid.2 - 25 5234 c.4990C>T c.(4990-4992)CGG>TGG p.R1664W TRPM3_uc004ahu.2_Missense_Mutation_p.R1506W|TRPM3_uc004ahv.2_Missense_Mutation_p.R1466W|TRPM3_uc004ahw.2_Missense_Mutation_p.R1536W|TRPM3_uc004ahx.2_Missense_Mutation_p.R1523W|TRPM3_uc004ahy.2_Missense_Mutation_p.R1526W|TRPM3_uc004ahz.2_Missense_Mutation_p.R1513W|TRPM3_uc004aia.2_Missense_Mutation_p.R1511W|TRPM3_uc004aib.2_Missense_Mutation_p.R1501W|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1689 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GCTGTGTTCCGCTGCCTGTCG 0.577 NA 129 74 0 0 0.01441 0 0 TRPM6 140803 broad.mit.edu 37 9 77436629 77436629 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:77436629C>A uc004ajl.1 - 8 1204 c.966G>T c.(964-966)GCG>GCT p.A322A TRPM6_uc004ajk.1_Silent_p.A317A|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.A322A|TRPM6_uc010mpd.1_Silent_p.A322A|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 322 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GGAGGTCAGCCGCCCTACCTG 0.542 NA 32 22 2.80507e-11 3.43196e-11 0.012213 1 0 GADD45G 10912 broad.mit.edu 37 9 92220638 92220638 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:92220638A>G uc004aqq.2 + 3 322 c.212A>G c.(211-213)GAC>GGC p.D71G GADD45G_uc004aqr.2_Missense_Mutation_p.D53G NM_006705 NP_006696 O95257 GA45G_HUMAN growth arrest and DNA-damage-inducible, gamma 71 activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development protein binding 0 GACGAGGGCGACATCGCGCTG 0.627 Colon(131;320 2336 18973 23919) NA 18 21 0 0 0.008871 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713787 138713787 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:138713787C>T uc004cgr.3 - 11 2720 c.2720G>A c.(2719-2721)CGC>CAC p.R907H CAMSAP1_uc004cgq.3_Missense_Mutation_p.R797H|CAMSAP1_uc010nbg.2_Missense_Mutation_p.R629H NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 907 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GAGCTTCAGGCGCTGCCTTGC 0.617 NA 60 97 0 0 0.01441 0 0 FAM46D 169966 broad.mit.edu 37 X 79699185 79699185 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chrX:79699185C>T uc004edl.1 + 5 1481 c.1147C>T c.(1147-1149)CGT>TGT p.R383C FAM46D_uc004edm.1_Missense_Mutation_p.R383C NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 383 lung(2) 2 ACTGCACTTTCGTGGATCAAA 0.403 NA 15 6 0 0 0.007413 0 0 GPR112 139378 broad.mit.edu 37 X 135431752 135431752 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chrX:135431752G>T uc004ezu.1 + 6 6178 c.5887G>T c.(5887-5889)GCT>TCT p.A1963S GPR112_uc010nsb.1_Missense_Mutation_p.A1758S|GPR112_uc010nsc.1_Missense_Mutation_p.A1730S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1963 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) ATCTTTAAGAGCTATCACTTC 0.418 NA 33 15 2.08457e-15 2.74823e-15 0.010818 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904874 144904874 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chrX:144904874C>A uc004fcd.2 + 5 1921 c.931C>A c.(931-933)CCA>ACA p.P311T SLITRK2_uc010nsp.2_Missense_Mutation_p.P311T|SLITRK2_uc010nso.2_Missense_Mutation_p.P311T|SLITRK2_uc011mwq.1_Missense_Mutation_p.P311T|SLITRK2_uc011mwr.1_Missense_Mutation_p.P311T|SLITRK2_uc011mws.1_Missense_Mutation_p.P311T|SLITRK2_uc004fcg.2_Missense_Mutation_p.P311T|SLITRK2_uc011mwt.1_Missense_Mutation_p.P311T NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 311 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAATCGTCCAACTCCTCG 0.552 NA 35 16 1.414e-09 1.64882e-09 0.003755 1 0 C1QA 712 broad.mit.edu 37 1 22965531 22965531 + Frame_Shift_Del DEL C C - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:22965531delC uc001bfy.2 + 3 454 c.369delC c.(367-369)AACfs p.N123fs C1QA_uc001bfz.2_Frame_Shift_Del_p.N123fs NM_015991 NP_057075 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 123 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTCGGCGGAACCCCCCAATGG 0.622 NA 14 22 --- --- --- --- NA NA NA NA NA C1orf129 80133 broad.mit.edu 37 1 170940953 170940974 + Frame_Shift_Del DEL AAGATCCCTCGATTGTAAAACA AAGATCCCTCGATTGTAAAACA - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 AAGATCCCTCGATTGTAAAACA AAGATCCCTCGATTGTAAAACA - - AAGATCCCTCGATTGTAAAACA AAGATCCCTCGATTGTAAAACA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:170940953_170940974delAAGATCCCTCGATTGTAAAACA uc001ghg.2 + 8 675_696 c.545_566delAAGATCCCTCGATTGTAAAACA c.(544-567)GAAGATCCCTCGATTGTAAAACAAfs p.E182fs C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Frame_Shift_Del_p.E182fs NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 182_189 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGTTCCCATGAAGATCCCTCGATTGTAAAACAAGCATCATTG 0.432 NA 52 295 --- --- --- --- NA NA NA NA NA SNX1 6642 broad.mit.edu 37 15 64426931 64426937 + Frame_Shift_Del DEL GCGGGAG GCGGGAG - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 GCGGGAG GCGGGAG - - GCGGGAG GCGGGAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:64426931_64426937delGCGGGAG uc002amv.2 + 12 1326_1332 c.1290_1296delGCGGGAG c.(1288-1296)AAGCGGGAGfs p.K430fs SNX1_uc010bgv.2_Frame_Shift_Del_p.K144fs|SNX1_uc010uio.1_Frame_Shift_Del_p.K430fs|SNX1_uc002amw.2_Intron|SNX1_uc002amx.2_Frame_Shift_Del_p.K365fs|SNX1_uc002amy.2_Frame_Shift_Del_p.K359fs|SNX1_uc010bgw.2_Frame_Shift_Del_p.K332fs NM_003099 NP_003090 Q13596 SNX1_HUMAN sorting nexin 1 isoform a 430_432 BAR. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity 0 TGCAGAAGAAGCGGGAGGCCGAGGCTC 0.643 NA 16 21 --- --- --- --- NA NA NA NA NA ASXL3 80816 broad.mit.edu 37 18 31319308 31319308 + Frame_Shift_Del DEL C C - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:31319308delC uc010dmg.1 + 11 1995 c.1940delC c.(1939-1941)ACAfs p.T647fs ASXL3_uc002kxq.2_Frame_Shift_Del_p.T354fs NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 647 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TCCCTTGAGACAACATTTTGT 0.443 NA 16 25 --- --- --- --- NA NA NA NA NA MUC16 94025 broad.mit.edu 37 19 9082881 9082881 + Frame_Shift_Del DEL G G - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:9082881delG uc002mkp.2 - 1 9138 c.8934delC c.(8932-8934)CCCfs p.P2978fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2979 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCCTGAAGTGGGGACTCTGG 0.502 NA 63 62 --- --- --- --- NA NA NA NA NA EMP3 2014 broad.mit.edu 37 19 48833629 48833629 + Frame_Shift_Del DEL G G - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:48833629delG uc002piv.2 + 5 648 c.394delG c.(394-396)GGGfs p.G132fs NM_001425 NP_001416 P54852 EMP3_HUMAN epithelial membrane protein 3 132 cell growth|negative regulation of cell proliferation integral to membrane 0 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) GCACCCGCGAGGGGGCAGCTT 0.617 NA 43 34 --- --- --- --- NA NA NA NA NA IL1F9 56300 broad.mit.edu 37 2 113742558 113742558 + Frame_Shift_Del DEL C C - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:113742558delC uc002tio.1 + 5 511 c.442delC c.(442-444)CCCfs p.P148fs IL1F9_uc010fkr.1_Frame_Shift_Del_p.P113fs NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN interleukin 1 family, member 9 148 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 GAGAGACCAGCCCATCATTCT 0.483 Esophageal Squamous(44;715 981 6239 42838 46707) NA 29 78 --- --- --- --- NA NA NA NA NA LOC401010 401010 broad.mit.edu 37 2 132201558 132201558 + Frame_Shift_Del DEL G G - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:132201558delG uc002tst.2 - 1 910 c.444delC c.(442-444)GTCfs p.V148fs NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 TGCTCCATACGACCACCATTC 0.607 NA 25 22 --- --- --- --- NA NA NA NA NA RRP1B 23076 broad.mit.edu 37 21 45113189 45113203 + In_Frame_Del DEL CAGCTCACCCCTGGT CAGCTCACCCCTGGT - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 CAGCTCACCCCTGGT CAGCTCACCCCTGGT - - CAGCTCACCCCTGGT CAGCTCACCCCTGGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:45113189_45113203delCAGCTCACCCCTGGT uc002zdk.2 + 16 2316_2330 c.2202_2216delCAGCTCACCCCTGGT c.(2200-2217)GCCAGCTCACCCCTGGTG>GCG p.SSPLV735del RRP1B_uc002zdl.2_In_Frame_Del_p.SSPLV268del NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 735_739 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) GCTCACCTGCCAGCTCACCCCTGGTGGCCAAGAAG 0.586 NA 7 17 --- --- --- --- NA NA NA NA NA ZNF148 7707 broad.mit.edu 37 3 124996612 124996612 + Frame_Shift_Del DEL T T - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:124996612delT uc003ehx.3 - 7 1111 c.625delA c.(625-627)ATAfs p.I209fs SLC12A8_uc003ehw.3_Frame_Shift_Del_p.S32fs|ZNF148_uc003ehz.3_Frame_Shift_Del_p.I209fs|ZNF148_uc010hsa.2_Frame_Shift_Del_p.I209fs|ZNF148_uc003eia.3_Frame_Shift_Del_p.I209fs|ZNF148_uc003ehy.2_Frame_Shift_Del_p.I4fs NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 209 C2H2-type 2. cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 TACTTCTGTATGAAACGCATG 0.338 NA 21 43 --- --- --- --- NA NA NA NA NA NDST4 64579 broad.mit.edu 37 4 115998015 115998016 + Frame_Shift_Ins INS - - T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:115998015_115998016insT uc003ibu.2 - 2 856_857 c.177_178insA c.(175-180)CCATATfs p.P59fs NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 59_60 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATTGACCTATATGGTAGAATTT 0.416 NA 29 54 --- --- --- --- NA NA NA NA NA NSD1 64324 broad.mit.edu 37 5 176562850 176562850 + Frame_Shift_Del DEL A A - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:176562850delA uc003mfr.3 + 2 884 c.746delA c.(745-747)GAAfs p.E249fs NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Frame_Shift_Del_p.E249fs|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Frame_Shift_Del_p.E249fs|NSD1_uc003mfq.2_Frame_Shift_Del_p.E249fs NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 249 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGCAGCAATGAAAAAGCAGCC 0.413 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 25 40 --- --- --- --- NA NA NA NA NA FASTK 10922 broad.mit.edu 37 7 150774247 150774249 + In_Frame_Del DEL TGG TGG - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 TGG TGG - - TGG TGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:150774247_150774249delTGG uc003wix.1 - 8 1464_1466 c.1366_1368delCCA c.(1366-1368)CCAdel p.P456del uc011kvf.1_5'Flank|FASTK_uc003wiw.1_In_Frame_Del_p.P217del|FASTK_uc003wiy.1_In_Frame_Del_p.P315del|FASTK_uc003wiz.1_In_Frame_Del_p.P429del|FASTK_uc003wja.1_3'UTR NM_006712 NP_006703 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase isoform 1 456 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(2)|stomach(2) 4 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GGCAGGACCTTGGTGGGTATGGC 0.685 NA 10 64 --- --- --- --- NA NA NA NA NA DCAF4L2 138009 broad.mit.edu 37 8 88885101 88885101 + Frame_Shift_Del DEL C C - rs138379350 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:88885101delC uc003ydz.2 - 1 1196 c.1099delG c.(1099-1101)GCCfs p.A367fs NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 367 ovary(1) 1 GAAGAGAAGGCCACACTGGGA 0.582 NA 25 63 --- --- --- --- NA NA NA NA NA