Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values PLA2G2C 391013 broad.mit.edu 37 1 20490553 20490553 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:20490553G>A uc009vpq.1 - 3 384 c.384C>T c.(382-384)CCC>CCT p.P128P NM_001105572 NP_001099042 phospholipase A2, group IIC precursor 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCTCATAGGTGGGCAGGCTCT 0.522000 MACF1 23499 broad.mit.edu 37 1 39907918 39907918 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:39907918G>C uc010oiu.1 + 41 14334 c.14203G>C c.(14203-14205)GAC>CAC p.D4735H MACF1_uc010ois.1_Missense_Mutation_p.D4233H NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GACGGACAGAGACATTATACG 0.453000 SPATA6 54558 broad.mit.edu 37 1 48865070 48865070 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:48865070A>G uc001crr.1 - 7 898 c.733T>C c.(733-735)TAT>CAT p.Y245H SPATA6_uc001crs.1_Missense_Mutation_p.Y245H|SPATA6_uc010omv.1_Missense_Mutation_p.Y231H|SPATA6_uc001crt.2_Missense_Mutation_p.Y137H NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 245 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 TTGAACTCATAGGGTCCCAGA 0.403000 OLFM3 118427 broad.mit.edu 37 1 102290763 102290763 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:102290763G>A uc001duf.2 - 4 542 c.471C>T c.(469-471)ATC>ATT p.I157I OLFM3_uc001dug.2_Silent_p.I137I|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.I62I|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 157 Potential. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CCAGCACGGGGATCAAAGGCA 0.438000 LCE2B 26239 broad.mit.edu 37 1 152659494 152659494 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:152659494A>G uc001fai.2 + 2 229 c.175A>G c.(175-177)AGC>GGC p.S59G NM_014357 NP_055172 O14633 LCE2B_HUMAN late cornified envelope 2B 59 Cys-rich. keratinization ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTGGTCCCAGCTCTGGGGG 0.662000 IVL 3713 broad.mit.edu 37 1 152882716 152882716 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:152882716A>C uc001fau.2 + 2 489 c.443A>C c.(442-444)AAG>ACG p.K148T NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 148 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGGGAATGAAGAAAGAGCAA 0.299000 ARHGEF11 9826 broad.mit.edu 37 1 156921411 156921411 + Nonsense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:156921411G>A uc001fqo.2 - 21 2799 c.1759C>T c.(1759-1761)CGA>TGA p.R587* ARHGEF11_uc010phu.1_5'Flank|ARHGEF11_uc001fqn.2_Nonsense_Mutation_p.R627*|ARHGEF11_uc001fqp.1_Nonsense_Mutation_p.R106* NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 587 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) GTCGAGAGTCGTTGTGTCCCA 0.527000 CD5L 922 broad.mit.edu 37 1 157804351 157804351 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:157804351T>G uc001frk.3 - 4 707 c.564A>C c.(562-564)CAA>CAC p.Q188H NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 188 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGCAGCGTTTTTGAGTCAGTA 0.587000 CD1D 912 broad.mit.edu 37 1 158151963 158151963 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:158151963T>C uc001frr.2 + 4 969 c.470T>C c.(469-471)CTT>CCT p.L157P CD1D_uc009wsr.1_Missense_Mutation_p.L157P|CD1D_uc009wss.2_Missense_Mutation_p.L157P|CD1D_uc009wst.1_Missense_Mutation_p.L53P NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 157 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) GAGGCCCCACTTTGGGTAAAC 0.502000 OR10Z1 128368 broad.mit.edu 37 1 158576362 158576362 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:158576362T>G uc010pio.1 + 1 134 c.134T>G c.(133-135)ATT>AGT p.I45S NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) AATGTCTTCATTATCATAGCC 0.493000 OR10Z1 128368 broad.mit.edu 37 1 158576477 158576477 + Silent SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:158576477T>C uc010pio.1 + 1 249 c.249T>C c.(247-249)TCT>TCC p.S83S NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) GAATGCTCTCTGGCCTGGCTG 0.552000 SPTA1 6708 broad.mit.edu 37 1 158617507 158617507 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:158617507T>C uc001fst.1 - 27 3917 c.3718A>G c.(3718-3720)ACC>GCC p.T1240A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1240 Spectrin 12. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCCAGTATGGTCACCTGGGGA 0.512000 SPTA1 6708 broad.mit.edu 37 1 158651366 158651366 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:158651366T>C uc001fst.1 - 4 681 c.482A>G c.(481-483)CAG>CGG p.Q161R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 161 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TACATACTGCTGGAACTTCAG 0.532000 IFI16 3428 broad.mit.edu 37 1 159023489 159023489 + Missense_Mutation SNP G G C rs148215169 TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:159023489G>C uc001ftg.2 + 10 2374 c.2084G>C c.(2083-2085)AGA>ACA p.R695T IFI16_uc010pis.1_Missense_Mutation_p.R695T|IFI16_uc001fth.2_Missense_Mutation_p.R238T|IFI16_uc010pit.1_Missense_Mutation_p.R294T NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 751 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) GGGGAGTTGAGATCTGTAATT 0.408000 OR10J5 127385 broad.mit.edu 37 1 159504971 159504971 + Missense_Mutation SNP G G A rs149096656 byFrequency TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:159504971G>A uc010piw.1 - 1 827 c.827C>T c.(826-828)ACG>ATG p.T276M NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) GATGGTGTACGTCACTGAGAG 0.463000 LRRC52 440699 broad.mit.edu 37 1 165514020 165514020 + Nonsense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:165514020C>T uc001gde.2 + 1 543 c.487C>T c.(487-489)CAG>TAG p.Q163* LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 163 Extracellular (Potential).|LRR 5. integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TACCGGCTTGCAGACCCTGGA 0.522000 C1orf129 80133 broad.mit.edu 37 1 170965747 170965747 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:170965747A>C uc001ghg.2 + 14 1567 c.1437A>C c.(1435-1437)GAA>GAC p.E479D C1orf129_uc009wvy.2_Missense_Mutation_p.E286D|C1orf129_uc010plz.1_Missense_Mutation_p.E479D NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 479 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGTTATCTGAAGATCTGTGTT 0.443000 PAPPA2 60676 broad.mit.edu 37 1 176668476 176668476 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:176668476T>G uc001gkz.2 + 8 4151 c.2987T>G c.(2986-2988)CTG>CGG p.L996R PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 996 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TCAGTGCACCTGGGCCCCTTA 0.532000 PAPPA2 60676 broad.mit.edu 37 1 176708800 176708800 + Missense_Mutation SNP T T A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:176708800T>A uc001gkz.2 + 13 5001 c.3837T>A c.(3835-3837)TTT>TTA p.F1279L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1279 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GAGCAATTTTTATTTTTTTGA 0.443000 HMCN1 83872 broad.mit.edu 37 1 186072686 186072686 + Silent SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:186072686T>G uc001grq.1 + 69 10885 c.10656T>G c.(10654-10656)GCT>GCG p.A3552A NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3552 Ig-like C2-type 34. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCTGCATTGCTTCTGGAATCC 0.438000 KCNT2 343450 broad.mit.edu 37 1 196227454 196227454 + Silent SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:196227454T>C uc001gtd.1 - 26 3141 c.3081A>G c.(3079-3081)AAA>AAG p.K1027K KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.K960K|KCNT2_uc001gtf.1_Silent_p.K1003K|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Silent_p.K531K NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1027 Cytoplasmic (Potential).|ATP (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TACCAGAGTGTTTTGGGCCTT 0.483000 KCNT2 343450 broad.mit.edu 37 1 196251449 196251449 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:196251449A>C uc001gtd.1 - 24 2795 c.2735T>G c.(2734-2736)CTT>CGT p.L912R KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L838R|KCNT2_uc001gtf.1_Missense_Mutation_p.L888R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L888R|KCNT2_uc001gth.1_Missense_Mutation_p.L409R NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 912 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TCCCAACAGAAGTCTCGTGAT 0.303000 CFHR4 10877 broad.mit.edu 37 1 196887413 196887413 + Nonsense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:196887413T>G uc001gto.2 + 6 942 c.873T>G c.(871-873)TAT>TAG p.Y291* CFHR4_uc009wyy.2_Nonsense_Mutation_p.Y537*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.Y538* NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 291 Sushi 5. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 ACATAAAATATTATGCAAAAA 0.299000 F13B 2165 broad.mit.edu 37 1 197021923 197021923 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:197021923T>C uc001gtt.1 - 9 1440 c.1396A>G c.(1396-1398)ATA>GTA p.I466V NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 466 Sushi 8. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TTCATTTCTATGTTATTTCTG 0.299000 CR1 1378 broad.mit.edu 37 1 207791438 207791438 + Missense_Mutation SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:207791438C>G uc001hfy.2 + 34 5702 c.5562C>G c.(5560-5562)ATC>ATG p.I1854M CR1_uc001hfx.2_Missense_Mutation_p.I2304M NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1854 Sushi 29.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CACCCAAGATCCAAAACGGGC 0.443000 USH2A 7399 broad.mit.edu 37 1 215824071 215824071 + Missense_Mutation SNP C C T rs12085358 TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:215824071C>T uc001hku.1 - 65 14593 c.14206G>A c.(14206-14208)GAA>AAA p.E4736K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4736 Fibronectin type-III 33.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGAGACCTTCTGGTGGGGCT 0.557000 HNSCC(13;0.011) USH2A 7399 broad.mit.edu 37 1 216258110 216258110 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:216258110T>G uc001hku.1 - 25 5484 c.5097A>C c.(5095-5097)CAA>CAC p.Q1699H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1699 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACACGTTGATTTGTTCTTCAG 0.423000 HNSCC(13;0.011) PSEN2 5664 broad.mit.edu 37 1 227081737 227081737 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:227081737A>G uc009xeo.1 + 12 1529 c.1102A>G c.(1102-1104)ATC>GTC p.I368V CABC1_uc001hqm.1_5'Flank|PSEN2_uc009xep.1_Missense_Mutation_p.I367V|PSEN2_uc001hqk.2_RNA|uc001hql.1_5'Flank NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 368 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) CGGGGACTTCATCTTCTACAG 0.587000 FMN2 56776 broad.mit.edu 37 1 240555817 240555817 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:240555817T>G uc010pyd.1 + 15 5090 c.4865T>G c.(4864-4866)ATT>AGT p.I1622S FMN2_uc010pye.1_Missense_Mutation_p.I1626S|FMN2_uc010pyf.1_Missense_Mutation_p.I237S|FMN2_uc010pyg.1_Missense_Mutation_p.I218S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1622 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCAGCCAAAATTGACCAAGAG 0.333000 OR2AK2 391191 broad.mit.edu 37 1 248129071 248129071 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:248129071T>G uc010pzd.1 + 1 438 c.438T>G c.(436-438)CAT>CAG p.H146Q OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 146 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ACCCTTTACATTATCCTATGC 0.423000 OR2AK2 391191 broad.mit.edu 37 1 248129218 248129218 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:248129218A>G uc010pzd.1 + 1 585 c.585A>G c.(583-585)GAA>GAG p.E195E OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTTTCTGTGAAGTTCCAGCTC 0.438000 OR2M5 127059 broad.mit.edu 37 1 248309375 248309375 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:248309375A>G uc010pze.1 + 1 926 c.926A>G c.(925-927)AAG>AGG p.K309R NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 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;0.0388) GGAAAGGGCAAGTGTGGAGAG 0.428000 OR2M2 391194 broad.mit.edu 37 1 248343833 248343833 + Silent SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:248343833T>G uc010pzf.1 + 1 546 c.546T>G c.(544-546)CCT>CCG p.P182P NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|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;0.0245) GTGAATTCCCTTCCCTACTAA 0.418000 OR2M7 391196 broad.mit.edu 37 1 248487102 248487102 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:248487102A>C uc010pzk.1 - 1 769 c.769T>G c.(769-771)TTC>GTC p.F257V NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGCACATGAACAAACCTGCT 0.473000 OR2T4 127074 broad.mit.edu 37 1 248525883 248525883 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr1:248525883A>G uc001ieh.1 + 1 1001 c.1001A>G c.(1000-1002)AAG>AGG p.K334R NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 334 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGGCTCTGAAGAAAATGTTA 0.398000 CUBN 8029 broad.mit.edu 37 10 17113494 17113494 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr10:17113494T>G uc001ioo.2 - 19 2608 c.2556A>C c.(2554-2556)CAA>CAC p.Q852H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 852 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGAGAATGACTTGGCTTTGGG 0.423000 GPR158 57512 broad.mit.edu 37 10 25684866 25684866 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr10:25684866C>T uc001isj.2 + 3 1095 c.1035C>T c.(1033-1035)TTC>TTT p.F345F NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 345 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GCCTAGGATTCGTTCTTGGAG 0.413000 ANKRD30A 91074 broad.mit.edu 37 10 37486355 37486355 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr10:37486355A>C uc001iza.1 + 29 2594 c.2495A>C c.(2494-2496)AAG>ACG p.K832T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 888 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GAAATGCAAAAGTCTGTTCCA 0.308000 ANKRD30A 91074 broad.mit.edu 37 10 37505169 37505169 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr10:37505169T>G uc001iza.1 + 32 2861 c.2762T>G c.(2761-2763)CTT>CGT p.L921R NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 977 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GCAAGGGAACTTCAAAAAGAT 0.318000 ZNF33B 7582 broad.mit.edu 37 10 43088461 43088461 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr10:43088461A>G uc001jaf.1 - 5 2052 c.1937T>C c.(1936-1938)TTC>TCC p.F646S ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.F534S|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 646 C2H2-type 12. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTTATGGCAGAAAGCTTTTCC 0.398000 HTR7 3363 broad.mit.edu 37 10 92508669 92508669 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr10:92508669G>A uc001kha.2 - 2 1465 c.1222C>T c.(1222-1224)CGG>TGG p.R408W HTR7_uc001kgz.2_Missense_Mutation_p.R408W|HTR7_uc001khb.2_Missense_Mutation_p.R408W NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 408 Cytoplasmic (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GAGAGCTTCCGGTTGATATTC 0.493000 C10orf96 374355 broad.mit.edu 37 10 118116988 118116988 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr10:118116988T>C uc001lck.2 + 6 796 c.545T>C c.(544-546)CTT>CCT p.L182P NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 182 Potential. ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) CAAAGAAAACTTAAAGGTATT 0.274000 EIF3A 8661 broad.mit.edu 37 10 120796691 120796691 + Nonsense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr10:120796691G>A uc001ldu.2 - 21 4005 c.3859C>T c.(3859-3861)CGA>TGA p.R1287* EIF3A_uc010qsu.1_Nonsense_Mutation_p.R1253* NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1287 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTTAGATCTCGTCTTTCTCTT 0.507000 UBQLNL 143630 broad.mit.edu 37 11 5536964 5536964 + Silent SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:5536964T>C uc001maz.3 - 1 993 c.708A>G c.(706-708)CAA>CAG p.Q236Q HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 236 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GCATTATCTCTTGGATCATAG 0.468000 DCHS1 8642 broad.mit.edu 37 11 6646065 6646065 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:6646065G>A uc001mem.1 - 20 7591 c.7181C>T c.(7180-7182)GCC>GTC p.A2394V NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2394 Cadherin 23.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGAGAATGGCACTGCCTGG 0.562000 NELL1 4745 broad.mit.edu 37 11 21581738 21581738 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:21581738T>G uc001mqe.2 + 17 1943 c.1790T>G c.(1789-1791)ATT>AGT p.I597S NELL1_uc001mqf.2_Missense_Mutation_p.I550S|NELL1_uc009yid.2_Missense_Mutation_p.I625S|NELL1_uc010rdo.1_Missense_Mutation_p.I540S|NELL1_uc010rdp.1_Missense_Mutation_p.I310S|NELL1_uc001mqh.2_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 597 EGF-like 6; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 ATTGCAGACATTGATGAATGT 0.443000 MUC15 143662 broad.mit.edu 37 11 26582734 26582734 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:26582734T>C uc001mqx.2 - 4 1149 c.883A>G c.(883-885)AGT>GGT p.S295G ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S322G|MUC15_uc001mqy.2_Missense_Mutation_p.S272G NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 295 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTCCCAAAACTCACATCATAA 0.383000 DCDC1 341019 broad.mit.edu 37 11 31327864 31327864 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:31327864A>C uc001msv.2 - 5 708 c.506T>G c.(505-507)CTT>CGT p.L169R DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 169 Doublecortin. intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TCTTGGTTGAAGTTTGTGTCT 0.373000 RAG2 5897 broad.mit.edu 37 11 36614733 36614733 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:36614733A>C uc001mwv.3 - 2 1174 c.986T>G c.(985-987)CTT>CGT p.L329R C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 329 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TGGTATGCCAAGAAAAACAGT 0.388000 Familial_Hemophagocytic_Lymphohistiocytosis OR4C6 219432 broad.mit.edu 37 11 55433005 55433005 + Silent SNP C C T rs141756140 byFrequency TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:55433005C>T uc001nht.3 + 3 628 c.363C>T c.(361-363)TAC>TAT p.Y121Y OR4C6_uc010rik.1_Silent_p.Y121Y NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 ATGACCGCTACGTGGCCATCT 0.552000 OR5L2 26338 broad.mit.edu 37 11 55594726 55594726 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:55594726A>C uc001nhy.1 + 1 32 c.32A>C c.(31-33)GAG>GCG p.E11A NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) ACTGTGGCTGAGTTCATTCTC 0.428000 HNSCC(27;0.073) OR5D16 390144 broad.mit.edu 37 11 55606858 55606858 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:55606858A>C uc010rio.1 + 1 631 c.631A>C c.(631-633)AGC>CGC p.S211R NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TAATGAGATAAGCACACTACT 0.443000 OR5F1 338674 broad.mit.edu 37 11 55762007 55762007 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:55762007A>G uc010riv.1 - 1 95 c.95T>C c.(94-96)CTT>CCT p.L32P NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 32 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) ATAAATCACAAGAAAAAACAA 0.403000 OR8K1 390157 broad.mit.edu 37 11 56113544 56113544 + Silent SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:56113544G>C uc010rjg.1 + 1 30 c.30G>C c.(28-30)ACG>ACC p.T10T NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) ACAATCACACGGCAGTGACCA 0.373000 HNSCC(65;0.19) OR5M10 390167 broad.mit.edu 37 11 56345194 56345194 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:56345194A>C uc001niz.1 - 1 4 c.4T>G c.(4-6)TTG>GTG p.L2V NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTTGGGGACAACATCTTCTTA 0.373000 OR8G2 26492 broad.mit.edu 37 11 124096230 124096230 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:124096230T>C uc010saf.1 + 1 833 c.833T>C c.(832-834)GTC>GCC p.V278A NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 278 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CCATCATCTGTCAGCTCCATG 0.483000 STT3A 3703 broad.mit.edu 37 11 125482887 125482887 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr11:125482887G>A uc001qcd.2 + 13 1479 c.1369G>A c.(1369-1371)GCA>ACA p.A457T STT3A_uc001qce.2_Missense_Mutation_p.A457T|STT3A_uc010sbg.1_Missense_Mutation_p.A365T|STT3A_uc009zbn.2_Missense_Mutation_p.A179T NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 457 Helical; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TGTTTAGGTGGCAAGTGGGAT 0.403000 OLR1 4973 broad.mit.edu 37 12 10313422 10313422 + Missense_Mutation SNP T T A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr12:10313422T>A uc001qxo.1 - 4 641 c.527A>T c.(526-528)GAT>GTT p.D176V OLR1_uc010sgz.1_Intron|OLR1_uc010sha.1_Intron NM_002543 NP_002534 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) 176 Extracellular (Potential).|C-type lectin. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding ovary(1) 1 CAACTTGGCATCCAAAGACAA 0.428000 RECQL 5965 broad.mit.edu 37 12 21627837 21627837 + Silent SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr12:21627837C>A uc001rex.2 - 12 1641 c.1293G>T c.(1291-1293)GTG>GTT p.V431V RECQL_uc001rey.2_Silent_p.V431V NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 431 Helicase C-terminal. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 CATTTTCCATCACCACCATTG 0.363000 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function TPH2 121278 broad.mit.edu 37 12 72332847 72332847 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr12:72332847G>A uc009zrw.1 + 1 222 c.81G>A c.(79-81)GAG>GAA p.E27E TPH2_uc001swy.2_5'Flank NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 27 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) TGCCCGAAGAGCATCAGCTAC 0.473000 OREG0021996 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TRHDE 29953 broad.mit.edu 37 12 72969063 72969063 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr12:72969063A>C uc001sxa.2 + 11 2055 c.2025A>C c.(2023-2025)AAA>AAC p.K675N NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 675 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 ATTTGGACAAAGGAAGCTGGC 0.343000 GLIPR1L2 144321 broad.mit.edu 37 12 75804385 75804385 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr12:75804385A>C uc001sxr.1 + 2 414 c.406A>C c.(406-408)AGT>CGT p.S136R GLIPR1L2_uc001sxp.1_Missense_Mutation_p.S136R|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.S29R NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 136 integral to membrane ovary(1) 1 TGCTATCAGAAGTTGGCATGC 0.323000 TUBA3C 7278 broad.mit.edu 37 13 19748138 19748138 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr13:19748138G>C uc009zzj.2 - 5 1267 c.1218C>G c.(1216-1218)CAC>CAG p.H406Q NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 406 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCACGTACCAGTGCACAAAGG 0.612000 DGKH 160851 broad.mit.edu 37 13 42795478 42795478 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr13:42795478G>A uc001uyl.1 + 29 3542 c.3521G>A c.(3520-3522)CGT>CAT p.R1174H DGKH_uc010tfh.1_Intron|DGKH_uc001uym.1_Intron|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Missense_Mutation_p.R1029H|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.R1029H|DGKH_uc001uyp.2_Intron NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 1174 SAM. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) ATCTTCATCCGTCATGACATC 0.418000 C13orf31 144811 broad.mit.edu 37 13 44455464 44455464 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr13:44455464A>G uc010acg.2 + 2 828 c.343A>G c.(343-345)ATG>GTG p.M115V CCDC122_uc010acf.2_5'Flank|C13orf31_uc001uzf.3_Missense_Mutation_p.M115V NM_001128303 NP_001121775 Q8IV20 CM031_HUMAN hypothetical protein LOC144811 115 0 Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138) GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121) GAAGACATTAATGAAAGCTTT 0.358000 C13orf18 80183 broad.mit.edu 37 13 46946153 46946153 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr13:46946153A>C uc010acl.2 - 3 1063 c.458T>G c.(457-459)ATT>AGT p.I153S C13orf18_uc001vbf.3_Missense_Mutation_p.I86S|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Missense_Mutation_p.I18S|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.I153S|C13orf18_uc001vbh.3_Missense_Mutation_p.I153S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.I153S|C13orf18_uc010tga.1_Missense_Mutation_p.I86S NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 153 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) GGTGGCCAAAATCCCAGGGCT 0.512000 OR4M1 441670 broad.mit.edu 37 14 20248567 20248567 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:20248567T>C uc010tku.1 + 1 86 c.86T>C c.(85-87)GTT>GCT p.V29A NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTCCTATTTGTTATATTTCTA 0.403000 OR4K5 79317 broad.mit.edu 37 14 20389631 20389631 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:20389631T>G uc010tkw.1 + 1 866 c.866T>G c.(865-867)CTA>CGA p.L289R NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTTATACACTAAGGAATAGG 0.398000 DHRS4L1 728635 broad.mit.edu 37 14 24505711 24505711 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:24505711T>G uc010alc.2 + 1 2 c.2T>G c.(1-3)ATG>AGG p.M1R DHRS4L1_uc010tnu.1_RNA NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 1 binding|oxidoreductase activity 0 GTCTGATCCATGCACAAGGCG 0.667000 NFATC4 4776 broad.mit.edu 37 14 24839461 24839461 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:24839461G>A uc001wpc.2 + 2 1178 c.857G>A c.(856-858)CGC>CAC p.R286H NFATC4_uc010tok.1_Missense_Mutation_p.R349H|NFATC4_uc010tol.1_Missense_Mutation_p.R349H|NFATC4_uc010alr.2_Missense_Mutation_p.R349H|NFATC4_uc010als.2_Missense_Mutation_p.R299H|NFATC4_uc010tom.1_Missense_Mutation_p.R299H|NFATC4_uc010ton.1_Missense_Mutation_p.R299H|NFATC4_uc010too.1_Missense_Mutation_p.R299H|NFATC4_uc010alt.2_Missense_Mutation_p.R318H|NFATC4_uc010top.1_Missense_Mutation_p.R318H|NFATC4_uc010toq.1_Missense_Mutation_p.R318H|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.R286H|NFATC4_uc010tos.1_Missense_Mutation_p.R216H|NFATC4_uc010tot.1_Missense_Mutation_p.R274H|NFATC4_uc010tou.1_Missense_Mutation_p.R216H|NFATC4_uc010tov.1_Missense_Mutation_p.R274H|NFATC4_uc010tow.1_Missense_Mutation_p.R216H|NFATC4_uc010alv.2_Missense_Mutation_p.R274H|NFATC4_uc010tox.1_Missense_Mutation_p.R216H|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 286 SP 2; approximate.|Pro-rich.|2 approximate SP repeats. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) GCTCTGTCCCGCCGTGGCAGC 0.701000 AKAP6 9472 broad.mit.edu 37 14 33293932 33293932 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:33293932A>C uc001wrq.2 + 13 7083 c.6913A>C c.(6913-6915)AAT>CAT p.N2305H NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 2305 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CTGTGAAGAAAATCTTCTAAA 0.418000 FSCB 84075 broad.mit.edu 37 14 44975262 44975262 + Missense_Mutation SNP G G A rs147180788 TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:44975262G>A uc001wvn.2 - 1 1238 c.929C>T c.(928-930)GCG>GTG p.A310V NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 310 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) AGAATTCTCCGCAACTGCAGT 0.527000 RPL10L 140801 broad.mit.edu 37 14 47120380 47120380 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:47120380T>G uc001wwg.2 - 1 649 c.560A>C c.(559-561)AAG>ACG p.K187T NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 187 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 GAGGCACTTCTTGGCCACCAT 0.507000 MPP5 64398 broad.mit.edu 37 14 67790529 67790529 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:67790529G>A uc001xjc.2 + 14 2317 c.1851G>A c.(1849-1851)AAG>AAA p.K617K MPP5_uc001xjd.2_Silent_p.K583K|ATP6V1D_uc001xje.2_Intron NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 617 Guanylate kinase-like. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) AGAATCCAAAGGTAAAGTTTT 0.388000 KCNK10 54207 broad.mit.edu 37 14 88729593 88729593 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:88729593G>A uc001xwo.2 - 2 797 c.340C>T c.(340-342)CGG>TGG p.R114W KCNK10_uc001xwm.2_Missense_Mutation_p.R119W|KCNK10_uc001xwn.2_Missense_Mutation_p.R119W NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 114 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 ACATGATCCCGCAGGAATTCC 0.582000 C14orf159 80017 broad.mit.edu 37 14 91655360 91655360 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:91655360T>G uc001xzb.2 + 11 1794 c.1026T>G c.(1024-1026)CAT>CAG p.H342Q C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.H347Q|C14orf159_uc001xyx.2_Missense_Mutation_p.H330Q|C14orf159_uc001xyw.2_Missense_Mutation_p.H347Q|C14orf159_uc001xzc.2_Missense_Mutation_p.H342Q|C14orf159_uc001xza.2_Missense_Mutation_p.H347Q|C14orf159_uc001xyv.2_Missense_Mutation_p.H347Q|C14orf159_uc001xyz.2_Missense_Mutation_p.H218Q|C14orf159_uc001xze.2_Missense_Mutation_p.H342Q NM_001102366 NP_001095836 Q7Z3D6 CN159_HUMAN hypothetical protein LOC80017 isoform a 342 mitochondrion central_nervous_system(2)|ovary(1) 3 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TCCCCACACATTTCAATCATG 0.572000 TECPR2 9895 broad.mit.edu 37 14 102910107 102910107 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr14:102910107G>A uc001ylw.1 + 12 3024 c.2876G>A c.(2875-2877)CGG>CAG p.R959Q TECPR2_uc010awl.2_Missense_Mutation_p.R959Q|TECPR2_uc010txx.1_Missense_Mutation_p.R122Q NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 959 TECPR 1. protein binding lung(1)|central_nervous_system(1)|skin(1) 3 CTCCTGTACCGGGAGGGCGTG 0.607000 RYR3 6263 broad.mit.edu 37 15 34028450 34028450 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr15:34028450C>T uc001zhi.2 + 49 7509 c.7439C>T c.(7438-7440)TCC>TTC p.S2480F RYR3_uc010bar.2_Missense_Mutation_p.S2480F NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2480 4 X approximate repeats.|Cytoplasmic (By similarity). 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) TTGAGGCCTTCCATGTTACAG 0.373000 C15orf23 90417 broad.mit.edu 37 15 40675071 40675071 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr15:40675071T>G uc001zll.2 + 1 150 c.35T>G c.(34-36)GTT>GGT p.V12G C15orf23_uc010ucp.1_Missense_Mutation_p.V12G|C15orf23_uc001zlo.2_Missense_Mutation_p.V12G|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN TRAF4 associated factor 1 isoform a 12 nucleus protein binding ovary(1)|skin(1) 2 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) CTGGACAGAGTTTTCCGTACA 0.592000 IGF1R 3480 broad.mit.edu 37 15 99251142 99251142 + Missense_Mutation SNP T T A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr15:99251142T>A uc002bul.2 + 2 496 c.446T>A c.(445-447)CTC>CAC p.L149H IGF1R_uc010urq.1_Missense_Mutation_p.L149H|IGF1R_uc010bon.2_Missense_Mutation_p.L149H NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 149 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) AATGCTGACCTCTGTTACCTC 0.507000 OTOA 146183 broad.mit.edu 37 16 21709177 21709177 + Missense_Mutation SNP C C T rs145435704 byFrequency TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr16:21709177C>T uc002djh.2 + 9 822 c.821C>T c.(820-822)ACG>ATG p.T274M uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.T195M NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 274 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) GAAGAAATTACGAAAATTAGT 0.348000 JMJD5 79831 broad.mit.edu 37 16 27226219 27226219 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr16:27226219G>A uc002doh.2 + 4 870 c.688G>A c.(688-690)GCT>ACT p.A230T JMJD5_uc010vcn.1_Missense_Mutation_p.A268T|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_RNA NM_024773 NP_079049 Q8N371 KDM8_HUMAN jumonji domain containing 5 isoform 2 230 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(2)|upper_aerodigestive_tract(1) 3 CCAGGAGATCGCTGGCTGCCG 0.393000 CDH11 1009 broad.mit.edu 37 16 65016134 65016134 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr16:65016134T>G uc002eoi.2 - 8 1504 c.1070A>C c.(1069-1071)AAG>ACG p.K357T CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K357T|CDH11_uc010vin.1_Missense_Mutation_p.K231T|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 357 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GCTGATAAACTTCGGGTCGAT 0.478000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) CES2 8824 broad.mit.edu 37 16 66972139 66972139 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr16:66972139G>A uc002eqr.2 + 2 1468 c.468G>A c.(466-468)CCG>CCA p.P156P CES2_uc002eqq.2_Silent_p.P156P|CES2_uc002eqs.2_5'UTR NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 92 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CCACCCATCCGGCCATGTAAG 0.527000 KRT28 162605 broad.mit.edu 37 17 38955754 38955754 + Missense_Mutation SNP C C T rs140121032 byFrequency TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr17:38955754C>T uc002hvh.1 - 1 458 c.392G>A c.(391-393)CGT>CAT p.R131H NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 131 Rod.|Linker 1. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) ATCAAGTCCACGGCAAGATCC 0.403000 KRTAP4-5 85289 broad.mit.edu 37 17 39305930 39305930 + Nonsense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr17:39305930G>T uc002hwb.2 - 1 125 c.90C>A c.(88-90)TGC>TGA p.C30* NM_033188 NP_149445 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 30 4.|27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGTCCTGCAGCAGGTGGTCT 0.557000 PLCD3 113026 broad.mit.edu 37 17 43196223 43196223 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr17:43196223C>T uc002iib.2 - 5 986 c.872G>A c.(871-873)CGC>CAC p.R291H NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN phospholipase C delta 3 291 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|lung(1) 3 Phosphatidylserine(DB00144) CTGCTGGGCGCGGGCCAGTGT 0.428000 LAMA3 3909 broad.mit.edu 37 18 21331030 21331030 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr18:21331030G>A uc002kuq.2 + 5 919 c.833G>A c.(832-834)CGA>CAA p.R278Q LAMA3_uc010dlv.1_Missense_Mutation_p.R278Q|LAMA3_uc002kur.2_Missense_Mutation_p.R278Q NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 278 Laminin N-terminal. 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) AAAGCCCAGCGAGATCCAACT 0.428000 ASXL3 80816 broad.mit.edu 37 18 31322938 31322938 + Silent SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr18:31322938T>C uc010dmg.1 + 12 3181 c.3126T>C c.(3124-3126)TCT>TCC p.S1042S ASXL3_uc002kxq.2_Silent_p.S749S NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1042 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CTAGCACATCTGTCAGTGGCG 0.557000 TCEB3C 162699 broad.mit.edu 37 18 44549211 44549211 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr18:44549211A>G uc010dnr.2 - 1 1088 c.1088T>C c.(1087-1089)CTT>CCT p.L363P KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_001100817 NP_001094287 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 363 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 AACGGGTTCAAGAACCGAGTA 0.612000 DCC 1630 broad.mit.edu 37 18 51013247 51013247 + Missense_Mutation SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr18:51013247C>A uc002lfe.1 + 26 4404 c.3817C>A c.(3817-3819)CCC>ACC p.P1273T DCC_uc010dpf.1_Missense_Mutation_p.P908T NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1273 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTGTGGATATCCCCACCCGCA 0.547000 ACP5 54 broad.mit.edu 37 19 11685996 11685996 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:11685996C>T uc002msg.3 - 5 953 c.807G>A c.(805-807)CGG>CGA p.R269R uc002msf.2_Intron|ACP5_uc002msh.3_Silent_p.R269R|ACP5_uc002msi.3_Silent_p.R269R|ACP5_uc002msj.3_Silent_p.R269R NM_001611 NP_001602 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 269 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding central_nervous_system(1) 1 TGCGCTGGTGCCGCTTTGAGG 0.562000 RTBDN 83546 broad.mit.edu 37 19 12939563 12939563 + Silent SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:12939563T>C uc002mvi.2 - 4 403 c.273A>G c.(271-273)GAA>GAG p.E91E RTBDN_uc002mvh.1_Silent_p.E123E|RTBDN_uc002mvj.2_Silent_p.E123E NM_001080997 NP_001074466 Q9BSG5 RTBDN_HUMAN retbindin isoform 1 91 extracellular region 0 GTTGGAGGTGTTCCAGGAAGG 0.622000 CYP4F3 4051 broad.mit.edu 37 19 15760856 15760856 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:15760856C>T uc002nbj.2 + 7 831 c.781C>T c.(781-783)CGC>TGC p.R261C CYP4F3_uc010xok.1_Missense_Mutation_p.R261C|CYP4F3_uc010xol.1_Missense_Mutation_p.R261C|CYP4F3_uc010xom.1_Missense_Mutation_p.R112C|CYP4F3_uc002nbk.2_Missense_Mutation_p.R261C|CYP4F3_uc010xon.1_5'UTR NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 261 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 CAGGGCCTGCCGCCTGGTGCA 0.577000 KIAA1683 80726 broad.mit.edu 37 19 18376589 18376589 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:18376589A>G uc002nin.2 - 3 1977 c.1761T>C c.(1759-1761)CAT>CAC p.H587H KIAA1683_uc010ebn.2_Silent_p.H587H|KIAA1683_uc010xqe.1_Silent_p.H541H NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 587 mitochondrion ovary(2) 2 CAGTTCCCGGATGTGGTTGAG 0.557000 ZNF492 57615 broad.mit.edu 37 19 22847417 22847417 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:22847417A>G uc002nqw.3 + 4 1190 c.946A>G c.(946-948)AAG>GAG p.K316E NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 316 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AGAATGTGGTAAGGCCTTTAG 0.383000 UQCRFS1 7386 broad.mit.edu 37 19 29698476 29698476 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:29698476G>A uc002nsd.2 - 2 915 c.804C>T c.(802-804)GAC>GAT p.D268D NM_006003 NP_005994 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske 268 Rieske. respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity 0 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) TCACCATATCGTCACTGGTGA 0.473000 ZNF536 9745 broad.mit.edu 37 19 31040275 31040275 + Missense_Mutation SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:31040275A>T uc002nsu.1 + 4 3887 c.3749A>T c.(3748-3750)AAG>ATG p.K1250M ZNF536_uc010edd.1_Missense_Mutation_p.K1250M NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1250 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) GGCCTGCCAAAGCCGGAGCGG 0.622000 ARHGAP33 115703 broad.mit.edu 37 19 36271381 36271381 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:36271381G>A uc002obr.1 + 8 768 c.683G>A c.(682-684)CGG>CAG p.R228Q ARHGAP33_uc002obs.1_Missense_Mutation_p.R228Q|ARHGAP33_uc002obt.1_Missense_Mutation_p.R92Q|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 228 SH3. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 AGCTGGTGGCGGGGCAAGCGA 0.652000 ZFP14 57677 broad.mit.edu 37 19 36832163 36832163 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:36832163G>C uc002odx.1 - 4 658 c.565C>G c.(565-567)CAA>GAA p.Q189E ZFP14_uc010xtd.1_Missense_Mutation_p.Q190E|ZFP14_uc010eex.1_Missense_Mutation_p.Q189E NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 189 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) CTCAGGTGTTGACTAAGTGTT 0.408000 ZNF571 51276 broad.mit.edu 37 19 38056875 38056875 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:38056875G>A uc002ogt.2 - 4 556 c.455C>T c.(454-456)TCA>TTA p.S152L uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.S152L NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 152 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATAAGGCATGACAGGTAGCT 0.343000 CCDC155 147872 broad.mit.edu 37 19 49918217 49918217 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:49918217A>C uc002pnm.1 + 17 1512 c.1338A>C c.(1336-1338)AGA>AGC p.R446S CCDC155_uc010emx.1_Missense_Mutation_p.R417S NM_144688 NP_653289 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 446 integral to membrane calcium ion binding ovary(1)|central_nervous_system(1) 2 GGTTGACCAGAAGAGAGGAAG 0.602000 SIGLEC5 8778 broad.mit.edu 37 19 52130978 52130978 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:52130978G>C uc002pxe.2 - 6 1158 c.1019C>G c.(1018-1020)CCC>CGC p.P340R NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 340 Extracellular (Potential). cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) GGAGCAGGAGGGGCCCAGCAA 0.657000 ZNF416 55659 broad.mit.edu 37 19 58084932 58084932 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:58084932T>C uc002qpf.2 - 4 511 c.340A>G c.(340-342)ACC>GCC p.T114A ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AAAATGTCGGTCAGGAATGGG 0.512000 ZSCAN4 201516 broad.mit.edu 37 19 58190208 58190208 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr19:58190208C>T uc002qpu.2 + 5 1934 c.1237C>T c.(1237-1239)CGC>TGC p.R413C NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 413 C2H2-type 4. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACATACCACCGCCATATGAG 0.458000 APOB 338 broad.mit.edu 37 2 21231570 21231570 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:21231570G>T uc002red.2 - 26 8298 c.8170C>A c.(8170-8172)CCA>ACA p.P2724T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2724 Missing (in Ref. 15; AAA51758). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGAGAGTTGGGATTATGAAT 0.428000 RPIA 22934 broad.mit.edu 37 2 89049502 89049502 + Silent SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:89049502G>T uc002ste.2 + 9 884 c.843G>T c.(841-843)GTG>GTT p.V281V NM_144563 NP_653164 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 281 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity ovary(1) 1 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) CTGCAGGTGTGGTGGACACAG 0.483000 MGAT4A 11320 broad.mit.edu 37 2 99251709 99251709 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:99251709A>C uc002sze.2 - 14 1758 c.1444T>G c.(1444-1446)TTA>GTA p.L482V C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.L354V|MGAT4A_uc010fil.2_Missense_Mutation_p.L236V NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN alpha-1,3-mannosyl-glycoprotein 482 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 CCATCTTCTAATCGTTTGTCT 0.279000 MYO7B 4648 broad.mit.edu 37 2 128335741 128335741 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:128335741G>A uc002top.2 + 9 936 c.883G>A c.(883-885)GCC>ACC p.A295T NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 295 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCTCAACGACGCCAAGGACTA 0.632000 ZEB2 9839 broad.mit.edu 37 2 145156170 145156170 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:145156170A>C uc002tvu.2 - 8 3064 c.2584T>G c.(2584-2586)TTG>GTG p.L862V ZEB2_uc002tvv.2_Missense_Mutation_p.L856V|ZEB2_uc010zbm.1_Missense_Mutation_p.L833V|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.L891V NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 862 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) ATAAAAGTCAAGTTCAGAGGC 0.348000 RIF1 55183 broad.mit.edu 37 2 152331523 152331523 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:152331523A>G uc002txm.2 + 36 7487 c.7357A>G c.(7357-7359)AAC>GAC p.N2453D RIF1_uc002txl.2_Missense_Mutation_p.N2427D|RIF1_uc002txn.2_Missense_Mutation_p.N2427D|RIF1_uc002txo.2_Missense_Mutation_p.N2427D|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 2453 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTGTATGGCAAACTCTGTAAT 0.338000 SCN2A 6326 broad.mit.edu 37 2 166172074 166172074 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:166172074T>G uc002udc.2 + 11 1767 c.1477T>G c.(1477-1479)TTG>GTG p.L493V SCN2A_uc002udd.2_Missense_Mutation_p.L493V|SCN2A_uc002ude.2_Missense_Mutation_p.L493V NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 493 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGCATCTAAGTTGAGCTCCAA 0.343000 SCN9A 6335 broad.mit.edu 37 2 167055189 167055189 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:167055189T>G uc010fpl.2 - 27 6268 c.5927A>C c.(5926-5928)AAA>ACA p.K1976T uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1987 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GCTCTATTTTTTGCTTTCCTT 0.333000 TTN 7273 broad.mit.edu 37 2 179422434 179422434 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:179422434T>G uc010zfg.1 - 277 80167 c.79943A>C c.(79942-79944)AAC>ACC p.N26648T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N20343T|TTN_uc010zfi.1_Missense_Mutation_p.N20276T|TTN_uc010zfj.1_Missense_Mutation_p.N20151T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27575 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) GCCAAAGCGGTTTTCTGCCTT 0.418000 TTN 7273 broad.mit.edu 37 2 179426489 179426489 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:179426489C>T uc010zfg.1 - 275 76890 c.76666G>A c.(76666-76668)GAG>AAG p.E25556K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19251K|TTN_uc010zfi.1_Missense_Mutation_p.E19184K|TTN_uc010zfj.1_Missense_Mutation_p.E19059K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26483 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) AACTGATACTCACTTCCTGTT 0.438000 TTN 7273 broad.mit.edu 37 2 179587167 179587167 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:179587167T>G uc010zfg.1 - 74 18839 c.18615A>C c.(18613-18615)CAA>CAC p.Q6205H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q2866H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7132 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) ACCAGCACACTTGGATGGGTG 0.383000 SESTD1 91404 broad.mit.edu 37 2 180011150 180011150 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:180011150G>A uc002uni.3 - 8 766 c.616C>T c.(616-618)CCT>TCT p.P206S NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 206 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) ACTGTTTCAGGATCAACCGAT 0.299000 UBE2E3 10477 broad.mit.edu 37 2 181846772 181846772 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:181846772G>A uc002unq.1 + 3 222 c.3G>A c.(1-3)ATG>ATA p.M1I UBE2E3_uc002unr.1_Missense_Mutation_p.M1I|UBE2E3_uc010fri.1_Missense_Mutation_p.M1I NM_182678 NP_872619 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 1 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity ovary(1) 1 TCACCAAGATGTCCAGTGATA 0.478000 ZNF804A 91752 broad.mit.edu 37 2 185802610 185802610 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:185802610A>C uc002uph.2 + 4 3081 c.2487A>C c.(2485-2487)AAA>AAC p.K829N NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 829 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TAGAACTCAAAGAAAATACAG 0.398000 DNAH7 56171 broad.mit.edu 37 2 196774920 196774920 + Splice_Site SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:196774920C>G uc002utj.3 - 25 4037 c.3936_splice c.e25-1 p.R1312_splice NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AAATAAGGTTCTGAAACATAT 0.408000 HECW2 57520 broad.mit.edu 37 2 197086947 197086947 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:197086947T>G uc002utm.1 - 24 4317 c.4134A>C c.(4132-4134)GAA>GAC p.E1378D HECW2_uc002utl.1_Missense_Mutation_p.E1022D NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1378 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GCCCAAATACTTCTTCGTTCA 0.448000 HSPD1 3329 broad.mit.edu 37 2 198352641 198352641 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:198352641C>T uc002uui.2 - 11 1647 c.1510G>A c.(1510-1512)GAT>AAT p.D504N HSPD1_uc002uuj.2_Missense_Mutation_p.D502N|HSPD1_uc010zgx.1_Missense_Mutation_p.D495N|HSPD1_uc010fsm.2_Missense_Mutation_p.D315N|HSPD1_uc002uuk.2_Missense_Mutation_p.D504N NM_002156 NP_002147 P10809 CH60_HUMAN chaperonin 504 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding 0 Epithelial(96;0.225) GCCATAGCATCATAACCAACT 0.353000 PLCL1 5334 broad.mit.edu 37 2 198949915 198949915 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr2:198949915A>C uc010fsp.2 + 2 1965 c.1674A>C c.(1672-1674)GAA>GAC p.E558D PLCL1_uc002uuv.3_Missense_Mutation_p.E479D NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 558 Interaction with GABA A beta subunit (By similarity). intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.P558L(1) ovary(1)|skin(1) 2 Quinacrine(DB01103) TAACAGATGAAGATGAAGAAG 0.408000 DEFB118 117285 broad.mit.edu 37 20 29960728 29960728 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr20:29960728G>T uc002wvr.2 + 2 153 c.127G>T c.(127-129)GCA>TCA p.A43S NM_054112 NP_473453 Q96PH6 DB118_HUMAN beta-defensin 118 precursor 43 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region ovary(3)|pancreas(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGATGGAGAAGCAGTGAAAGA 0.438000 NCOA5 57727 broad.mit.edu 37 20 44695694 44695694 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr20:44695694T>C uc002xrd.2 - 4 1157 c.629A>G c.(628-630)AAA>AGA p.K210R NCOA5_uc002xrc.2_Missense_Mutation_p.K98R|NCOA5_uc002xre.2_Missense_Mutation_p.K210R NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) GGGTTCTTACTTTGTCTGTTT 0.423000 ZNF217 7764 broad.mit.edu 37 20 52198276 52198276 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr20:52198276C>T uc002xwq.3 - 1 1361 c.1090G>A c.(1090-1092)GAT>AAT p.D364N ZNF217_uc010gij.1_Missense_Mutation_p.D356N NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 364 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) AACTTGGGATCCGCGTCCACG 0.567000 ZNF217 7764 broad.mit.edu 37 20 52198321 52198321 + Nonsense_Mutation SNP C C A rs141467941 byFrequency TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr20:52198321C>A uc002xwq.3 - 1 1316 c.1045G>T c.(1045-1047)GAG>TAG p.E349* ZNF217_uc010gij.1_Nonsense_Mutation_p.E341* NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 349 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TTGCACTTCTCTTTCTCTTGC 0.572000 ZNF217 7764 broad.mit.edu 37 20 52198327 52198327 + Missense_Mutation SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr20:52198327C>G uc002xwq.3 - 1 1310 c.1039G>C c.(1039-1041)GAG>CAG p.E347Q ZNF217_uc010gij.1_Missense_Mutation_p.E339Q NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 347 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TTCTCTTTCTCTTGCGAGAGG 0.567000 TPTE 7179 broad.mit.edu 37 21 10952958 10952958 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr21:10952958T>C uc002yip.1 - 9 607 c.239A>G c.(238-240)AAG>AGG p.K80R TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K62R|TPTE_uc002yir.1_Missense_Mutation_p.K42R|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 80 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) TTTCTTAATCTTGCTGCTGCA 0.254000 SAMSN1 64092 broad.mit.edu 37 21 15858241 15858241 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr21:15858241T>G uc002yju.1 - 8 1196 c.1114A>C c.(1114-1116)AGT>CGT p.S372R SAMSN1_uc010gky.1_Missense_Mutation_p.S204R|SAMSN1_uc002yjv.1_Missense_Mutation_p.S440R NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 372 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GTTCAGTCACTTGGCTCTGTG 0.363000 JAM2 58494 broad.mit.edu 37 21 27062235 27062235 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr21:27062235A>C uc002ylp.1 + 3 736 c.191A>C c.(190-192)AAG>ACG p.K64T JAM2_uc011ace.1_Missense_Mutation_p.K64T|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Intron|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.K64T|JAM2_uc010gli.1_Missense_Mutation_p.K64T NM_021219 NP_067042 P57087 JAM2_HUMAN junctional adhesion molecule 2 precursor 64 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction 0 TTAGAGTGGAAGAAACTGGGT 0.423000 APP 351 broad.mit.edu 37 21 27264118 27264118 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr21:27264118A>G uc002ylz.2 - 17 2327 c.2127T>C c.(2125-2127)GGT>GGC p.G709G APP_uc011acg.1_Silent_p.G217G|APP_uc010glk.2_Silent_p.G685G|APP_uc002yma.2_Silent_p.G690G|APP_uc011ach.1_Silent_p.G653G|APP_uc002ymb.2_Silent_p.G634G|APP_uc010glj.2_Silent_p.G578G|APP_uc011aci.1_Silent_p.G599G NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 709 Helical; (Potential). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) CTATGACAACACCGCCCACCA 0.403000 ADAMTS5 11096 broad.mit.edu 37 21 28304387 28304387 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr21:28304387G>A uc002ymg.2 - 6 2714 c.1985C>T c.(1984-1986)GCG>GTG p.A662V NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 662 Cys-rich. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GCACACATCCGCTGGCAGGAC 0.488000 NAGA 4668 broad.mit.edu 37 22 42462769 42462769 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr22:42462769C>T uc003bbx.2 - 6 679 c.542G>A c.(541-543)CGC>CAC p.R181H NAGA_uc003bby.2_Missense_Mutation_p.R181H|NAGA_uc003bbw.3_Missense_Mutation_p.R181H NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 181 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 GGCGATGGGGCGGCCTGTGGC 0.632000 TUBGCP6 85378 broad.mit.edu 37 22 50659547 50659547 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr22:50659547C>T uc003bkb.1 - 16 3753 c.3241G>A c.(3241-3243)GGA>AGA p.G1081R TUBGCP6_uc003bka.1_Missense_Mutation_p.G168R|TUBGCP6_uc010har.1_Missense_Mutation_p.G1073R|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1081 9 X 27 AA tandem repeats.|3. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GATACGTGTCCGTGGGTGTTC 0.612000 CHL1 10752 broad.mit.edu 37 3 423943 423943 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:423943A>C uc003bou.2 + 16 2181 c.1910A>C c.(1909-1911)GAC>GCC p.D637A CHL1_uc003bot.2_Missense_Mutation_p.D653A|CHL1_uc003bow.1_Missense_Mutation_p.D637A|CHL1_uc011asi.1_Missense_Mutation_p.D653A|uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 637 Fibronectin type-III 1.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GCTGGAGCTGACCACAACAGC 0.418000 CNTN6 27255 broad.mit.edu 37 3 1269539 1269539 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:1269539A>C uc003boz.2 + 4 487 c.220A>C c.(220-222)AGT>CGT p.S74R CNTN6_uc010hbo.2_Missense_Mutation_p.S69R|CNTN6_uc011asj.1_Missense_Mutation_p.S2R|CNTN6_uc003bpa.2_Missense_Mutation_p.S74R NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 74 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TTTTACTATGAGTTATCACTA 0.393000 CNTN6 27255 broad.mit.edu 37 3 1415424 1415424 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:1415424G>A uc003boz.2 + 15 2190 c.1923G>A c.(1921-1923)GTG>GTA p.V641V CNTN6_uc011asj.1_Silent_p.V569V|CNTN6_uc003bpa.2_Silent_p.V641V NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 641 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CATTTTCTGTGGGTTGGCAGG 0.323000 NR1D2 9975 broad.mit.edu 37 3 24001267 24001267 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:24001267C>T uc003ccs.2 + 4 797 c.478C>T c.(478-480)CGC>TGC p.R160C NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R85C NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 160 Nuclear receptor.|NR C4-type. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 TCAGCAATGTCGCTTCAAAAA 0.383000 TRANK1 9881 broad.mit.edu 37 3 36887808 36887808 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:36887808G>A uc003cgj.2 - 7 3642 c.3340C>T c.(3340-3342)CGG>TGG p.R1114W NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1664 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GCGGGAGCCCGTTTCTCTCGG 0.418000 EXOG 9941 broad.mit.edu 37 3 38539262 38539262 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:38539262G>A uc003cih.2 + 2 402 c.306G>A c.(304-306)AAG>AAA p.K102K EXOG_uc010hhg.2_Intron|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_Intron|EXOG_uc010hhe.2_Intron|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_Intron NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 102 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding 0 CCAAAAGCAAGATAATGGGTA 0.343000 SCN5A 6331 broad.mit.edu 37 3 38592796 38592796 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:38592796G>A uc003cio.2 - 28 5261 c.5067C>T c.(5065-5067)GAC>GAT p.D1689D SCN5A_uc003cin.2_Silent_p.D1688D|SCN5A_uc003cil.3_Silent_p.D1689D|SCN5A_uc010hhi.2_Silent_p.D1671D|SCN5A_uc010hhk.2_Silent_p.D1656D|SCN5A_uc011ayr.1_Silent_p.D1635D NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1689 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGAACATGTCGTCGATGCCAG 0.562000 SCN11A 11280 broad.mit.edu 37 3 38938681 38938681 + Silent SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:38938681A>C uc011ays.1 - 14 2257 c.2058T>G c.(2056-2058)ACT>ACG p.T686T SCN11A_uc010hhn.1_5'Flank NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 686 Helical; Voltage-sensor; Name=S4 of repeat II; (By similarity).|II. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTGTGTTCAAAGTTGGCCAGG 0.428000 TTC21A 199223 broad.mit.edu 37 3 39162529 39162529 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:39162529C>T uc003cjc.2 + 9 1143 c.966C>T c.(964-966)TTC>TTT p.F322F TTC21A_uc003cje.2_Silent_p.F322F|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.F273F NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 322 binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TGTGTAGTTTCATCGAGCGCA 0.522000 TTC21A 199223 broad.mit.edu 37 3 39162565 39162565 + Silent SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:39162565C>G uc003cjc.2 + 9 1179 c.1002C>G c.(1000-1002)GTC>GTG p.V334V TTC21A_uc003cje.2_Silent_p.V334V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.V285V NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 334 TPR 6. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCTCGTATGTCCATGTGGCCA 0.517000 TTC21A 199223 broad.mit.edu 37 3 39162590 39162590 + Missense_Mutation SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:39162590C>G uc003cjc.2 + 9 1204 c.1027C>G c.(1027-1029)CTC>GTC p.L343V TTC21A_uc003cje.2_Missense_Mutation_p.L343V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.L294V NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 343 TPR 6. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ACTGGGCTATCTCTTCATCCT 0.512000 WDR6 11180 broad.mit.edu 37 3 49052400 49052400 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:49052400G>A uc003cvj.2 + 6 3273 c.3135G>A c.(3133-3135)GAG>GAA p.E1045E WDR6_uc011bby.1_Silent_p.E493E|WDR6_uc010hkn.2_Silent_p.E989E|WDR6_uc011bbz.1_Silent_p.E964E NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 1015 WD 15. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TTGCTGTGGAGATGCTACAGC 0.587000 WDR6 11180 broad.mit.edu 37 3 49052464 49052464 + Nonsense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:49052464G>T uc003cvj.2 + 6 3337 c.3199G>T c.(3199-3201)GAA>TAA p.E1067* WDR6_uc011bby.1_Nonsense_Mutation_p.E515*|WDR6_uc010hkn.2_Nonsense_Mutation_p.E1011*|WDR6_uc011bbz.1_Nonsense_Mutation_p.E986*|DALRD3_uc003cvk.1_3'UTR|DALRD3_uc003cvl.1_3'UTR|DALRD3_uc003cvm.1_3'UTR|DALRD3_uc010hko.1_3'UTR NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 1037 cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TGTGCTAGAGGAATACTCTGT 0.557000 CACNA2D3 55799 broad.mit.edu 37 3 54603875 54603875 + Nonsense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:54603875C>T uc003dhf.2 + 7 778 c.730C>T c.(730-732)CGA>TGA p.R244* CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.R150*|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 244 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTGCAGGAACCGAAAATGGTA 0.378000 TMF1 7110 broad.mit.edu 37 3 69075185 69075185 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:69075185C>T uc003dnn.2 - 14 3068 c.2821G>A c.(2821-2823)GTT>ATT p.V941I TMF1_uc011bfx.1_Missense_Mutation_p.V944I NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 941 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GCCATATCAACACCACTTATT 0.343000 EPHA3 2042 broad.mit.edu 37 3 89462402 89462402 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:89462402A>C uc003dqy.2 + 10 2099 c.1874A>C c.(1873-1875)AAA>ACA p.K625T EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 625 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TCCATTGATAAAGTTGTTGGA 0.423000 TSP Lung(6;0.00050) EPHA6 285220 broad.mit.edu 37 3 97202873 97202873 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:97202873A>G uc010how.1 + 10 2213 c.2170A>G c.(2170-2172)AGA>GGA p.R724G EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.R90G|EPHA6_uc003drs.3_Missense_Mutation_p.R116G|EPHA6_uc003drr.3_Missense_Mutation_p.R116G|EPHA6_uc003drt.2_Missense_Mutation_p.R116G|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 629 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TGATCCCTCAAGAATTCGTAT 0.294000 TRAT1 50852 broad.mit.edu 37 3 108572596 108572596 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:108572596G>T uc003dxi.1 + 6 577 c.433G>T c.(433-435)GCC>TCC p.A145S TRAT1_uc010hpx.1_Missense_Mutation_p.A108S NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 145 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 TGCAATAGATGCCAGCGTTTC 0.448000 EAF2 55840 broad.mit.edu 37 3 121591406 121591406 + Silent SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:121591406A>C uc003een.2 + 5 606 c.507A>C c.(505-507)CTA>CTC p.L169L EAF2_uc003eeo.2_Silent_p.L39L NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 169 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) AAGCTAGTCTAATGGACCAGA 0.299000 MCM2 4171 broad.mit.edu 37 3 127339719 127339719 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:127339719G>A uc003ejp.2 + 14 2501 c.2444G>A c.(2443-2445)CGC>CAC p.R815H MCM2_uc011bkm.1_Missense_Mutation_p.R685H|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.R768H NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 815 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 chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 CGCAGCATGCGCAAGGTGGGT 0.602000 SKIL 6498 broad.mit.edu 37 3 170078371 170078371 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:170078371C>T uc003fgu.2 + 2 964 c.252C>T c.(250-252)CCC>CCT p.P84P SKIL_uc011bps.1_Silent_p.P64P|SKIL_uc003fgv.2_Silent_p.P84P|SKIL_uc003fgw.2_Silent_p.P84P NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 84 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) ATTTAAATCCCAGTTTGAAAC 0.458000 NAALADL2 254827 broad.mit.edu 37 3 174814787 174814787 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:174814787T>G uc003fit.2 + 2 338 c.251T>G c.(250-252)CTT>CGT p.L84R NAALADL2_uc003fiu.1_Missense_Mutation_p.L77R NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 84 Cytoplasmic (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GACCTCAATCTTGATTCCATT 0.448000 FAM193A 8603 broad.mit.edu 37 4 2695327 2695327 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:2695327G>A uc010icl.2 + 14 2296 c.1945G>A c.(1945-1947)GGC>AGC p.G649S FAM193A_uc010ick.2_Missense_Mutation_p.G849S|FAM193A_uc003gfd.2_Missense_Mutation_p.G649S|FAM193A_uc011bvm.1_Missense_Mutation_p.G671S|FAM193A_uc011bvn.1_Missense_Mutation_p.G649S|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.G503S NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 649 ovary(3) 3 CGTGTTTCATGGCATCAGCAA 0.473000 JAKMIP1 152789 broad.mit.edu 37 4 6107340 6107340 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:6107340G>A uc003giu.3 - 3 760 c.484C>T c.(484-486)CGC>TGC p.R162C JAKMIP1_uc010idb.1_Missense_Mutation_p.R162C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R162C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R162C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R162C NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 162 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GCCTGCTTGCGCGCTGCCTTG 0.677000 ZNF518B 85460 broad.mit.edu 37 4 10445604 10445604 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:10445604G>A uc003gmn.2 - 3 2836 c.2349C>T c.(2347-2349)TCC>TCT p.S783S NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 783 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 CATTCTCAGAGGAATTAAGAA 0.468000 SLIT2 9353 broad.mit.edu 37 4 20258306 20258306 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:20258306G>A uc003gpr.1 + 2 395 c.191G>A c.(190-192)GGA>GAA p.G64E SLIT2_uc003gps.1_Missense_Mutation_p.G64E NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 64 LRR 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GATTTAAATGGAAATAACATC 0.299000 SLIT2 9353 broad.mit.edu 37 4 20525501 20525501 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:20525501T>G uc003gpr.1 + 13 1453 c.1249T>G c.(1249-1251)TCA>GCA p.S417A SLIT2_uc003gps.1_Missense_Mutation_p.S417A NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 417 LRR 11. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GGGGACCTTTTCACCTCTTCG 0.433000 CORIN 10699 broad.mit.edu 37 4 47647108 47647108 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:47647108C>T uc003gxm.2 - 14 2040 c.1947G>A c.(1945-1947)GAG>GAA p.E649E CORIN_uc011bzf.1_Silent_p.E510E|CORIN_uc011bzg.1_Silent_p.E582E|CORIN_uc011bzh.1_Silent_p.E612E NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 649 Extracellular (Potential).|LDL-receptor class A 6. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 AGCAGTTTTTCTCGTCCATGT 0.378000 CORIN 10699 broad.mit.edu 37 4 47647114 47647114 + Missense_Mutation SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:47647114C>A uc003gxm.2 - 14 2034 c.1941G>T c.(1939-1941)ATG>ATT p.M647I CORIN_uc011bzf.1_Missense_Mutation_p.M508I|CORIN_uc011bzg.1_Missense_Mutation_p.M580I|CORIN_uc011bzh.1_Missense_Mutation_p.M610I NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 647 Extracellular (Potential).|LDL-receptor class A 6. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 TTTTCTCGTCCATGTAATCAG 0.383000 ADAMTS3 9508 broad.mit.edu 37 4 73186470 73186470 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:73186470A>C uc003hgk.1 - 7 1100 c.1063T>G c.(1063-1065)TTT>GTT p.F355V NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 355 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTGGTTAAAAAAATTGCATGG 0.433000 PTPN13 5783 broad.mit.edu 37 4 87685813 87685813 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:87685813A>C uc003hpz.2 + 25 4565 c.4085A>C c.(4084-4086)AAG>ACG p.K1362T PTPN13_uc003hpy.2_Missense_Mutation_p.K1362T|PTPN13_uc003hqa.2_Missense_Mutation_p.K1343T|PTPN13_uc003hqb.2_Missense_Mutation_p.K1171T NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1362 KP -> RS (in Ref. 5; CAA56124). cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCACCTCCTAAGCCTGGAGAT 0.348000 ANK2 287 broad.mit.edu 37 4 114176918 114176918 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:114176918G>T uc003ibe.3 + 11 1118 c.1018G>T c.(1018-1020)GCC>TCC p.A340S ANK2_uc003ibd.3_Missense_Mutation_p.A319S|ANK2_uc003ibf.3_Missense_Mutation_p.A340S|ANK2_uc003ibc.2_Missense_Mutation_p.A316S|ANK2_uc011cgb.1_Missense_Mutation_p.A355S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 340 ANK 10. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACACATGGCTGCCCAGGGAGA 0.453000 CCNA2 890 broad.mit.edu 37 4 122739317 122739317 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:122739317G>C uc003iec.3 - 7 1437 c.1132C>G c.(1132-1134)CGA>GGA p.R378G NM_001237 NP_001228 P20248 CCNA2_HUMAN cyclin A 378 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding ovary(1) 1 CCAGTCTTTCGTATTAATGAT 0.413000 BBS7 55212 broad.mit.edu 37 4 122774116 122774116 + Missense_Mutation SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:122774116C>G uc003ied.2 - 8 1018 c.844G>C c.(844-846)GAT>CAT p.D282H BBS7_uc003iee.1_Missense_Mutation_p.D282H NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 282 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 CTTACCTGATCAAATCGTAGA 0.303000 Bardet-Biedl_syndrome KIAA1109 84162 broad.mit.edu 37 4 123161001 123161001 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:123161001G>A uc003ieh.2 + 27 4209 c.4164G>A c.(4162-4164)ATG>ATA p.M1388I KIAA1109_uc003iei.1_Missense_Mutation_p.M1141I|KIAA1109_uc010ins.1_Missense_Mutation_p.M731I|KIAA1109_uc003iek.2_Missense_Mutation_p.M7I NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1388 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GCATGTCAATGGCTGATAGTG 0.428000 PCDH18 54510 broad.mit.edu 37 4 138451176 138451176 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:138451176A>G uc003ihe.3 - 1 2454 c.2067T>C c.(2065-2067)ACT>ACC p.T689T PCDH18_uc003ihf.3_Silent_p.T682T|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.T469T|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 689 Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GGCTTACTGAAGTCATTGCTG 0.403000 GUCY1A3 2982 broad.mit.edu 37 4 156632253 156632253 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:156632253A>G uc003iov.2 + 7 1472 c.936A>G c.(934-936)AGA>AGG p.R312R GUCY1A3_uc003iou.2_Silent_p.R312R|GUCY1A3_uc010iqc.2_Silent_p.R312R|GUCY1A3_uc003iow.2_Silent_p.R312R|GUCY1A3_uc010iqd.2_Silent_p.R311R|GUCY1A3_uc003iox.2_Silent_p.R312R|GUCY1A3_uc003ioz.2_Silent_p.R77R|GUCY1A3_uc003ioy.2_Silent_p.R312R|GUCY1A3_uc010iqe.2_Silent_p.R77R|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.R312R NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 312 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TGAACAGGAGAGACTTTCAAG 0.378000 FSTL5 56884 broad.mit.edu 37 4 162697220 162697220 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr4:162697220T>C uc003iqh.2 - 5 852 c.416A>G c.(415-417)AAG>AGG p.K139R FSTL5_uc003iqi.2_Missense_Mutation_p.K138R|FSTL5_uc010iqv.2_Missense_Mutation_p.K138R NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 139 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AGTCTTGCACTTATCTCCTGT 0.254000 CDH18 1016 broad.mit.edu 37 5 19721530 19721530 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:19721530G>A uc003jgc.2 - 4 946 c.569C>T c.(568-570)ACC>ATC p.T190I CDH18_uc003jgd.2_Missense_Mutation_p.T190I|CDH18_uc011cnm.1_Missense_Mutation_p.T190I NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 190 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GTTTCCATAGGTAGGGTCATC 0.443000 CDH10 1008 broad.mit.edu 37 5 24498534 24498534 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:24498534A>G uc003jgr.1 - 9 1820 c.1488T>C c.(1486-1488)TTT>TTC p.F496F CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 496 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TTTCACATACAAAAGTGTCAT 0.393000 HNSCC(23;0.051) SPEF2 79925 broad.mit.edu 37 5 35704684 35704684 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:35704684C>T uc003jjo.2 + 17 2538 c.2427C>T c.(2425-2427)CAC>CAT p.H809H SPEF2_uc003jjq.3_Silent_p.H804H|SPEF2_uc003jjp.1_Silent_p.H295H NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 809 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAACTGCTCACGAAGATATCA 0.313000 RANBP3L 202151 broad.mit.edu 37 5 36249771 36249771 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:36249771C>T uc003jkh.2 - 14 1876 c.1383G>A c.(1381-1383)TCG>TCA p.S461S RANBP3L_uc011cow.1_Silent_p.S486S NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 461 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) AACAGGCAACCGACTGTCTGT 0.308000 EGFLAM 133584 broad.mit.edu 37 5 38370543 38370543 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:38370543A>G uc003jlc.1 + 6 1015 c.691A>G c.(691-693)AGT>GGT p.S231G EGFLAM_uc003jlb.1_Missense_Mutation_p.S231G NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 231 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CAGCTGGCCCAGTGACATCAT 0.567000 MRPS30 10884 broad.mit.edu 37 5 44813250 44813250 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:44813250T>G uc003joh.2 + 4 934 c.896T>G c.(895-897)TTT>TGT p.F299C NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 299 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) CACACCCAGTTTCATCTGTTA 0.388000 RASA1 5921 broad.mit.edu 37 5 86629108 86629108 + Nonsense_Mutation SNP C C T rs137853218 TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:86629108C>T uc003kiw.2 + 4 971 c.853C>T c.(853-855)CGA>TGA p.R285* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R108*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R118*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R119*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R108* NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 285 SH3. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) AAGGCGTGTACGAGCTATTCT 0.313000 PJA2 9867 broad.mit.edu 37 5 108704318 108704318 + Silent SNP T T C rs141863473 TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:108704318T>C uc003kos.3 - 5 1633 c.1413A>G c.(1411-1413)CTA>CTG p.L471L NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 471 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) TATCACTTTGTAGCTCAGGTT 0.393000 SPOCK1 6695 broad.mit.edu 37 5 136324212 136324212 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:136324212T>G uc003lbo.2 - 7 1018 c.827A>C c.(826-828)AAG>ACG p.K276T SPOCK1_uc003lbp.2_Missense_Mutation_p.K276T NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 276 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGGCTCGTACTTATCCAGGTA 0.493000 PCDHGA10 56106 broad.mit.edu 37 5 140794089 140794089 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:140794089C>T uc003lkl.1 + 1 1347 c.1347C>T c.(1345-1347)ATC>ATT p.I449I 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_uc011day.1_Silent_p.I449I NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 449 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCAGATATCAATGACAACC 0.498000 BNIP1 662 broad.mit.edu 37 5 172590860 172590860 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr5:172590860C>T uc003mcj.3 + 6 727 c.623C>T c.(622-624)GCG>GTG p.A208V BNIP1_uc003mci.3_Missense_Mutation_p.A251V|BNIP1_uc003mck.3_Missense_Mutation_p.A217V|BNIP1_uc003mcl.3_Missense_Mutation_p.A174V NM_001205 NP_001196 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kD interacting protein 1 208 Helical; Anchor for type IV membrane protein; (Potential). anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATCTTCCTTGCGCTAGCCCTG 0.502000 HIST1H2BL 8340 broad.mit.edu 37 6 27775400 27775400 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:27775400G>C uc003njl.2 - 1 310 c.285C>G c.(283-285)ATC>ATG p.I95M HIST1H3H_uc003njm.2_5'Flank NM_003519 NP_003510 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 95 nucleosome assembly nucleosome|nucleus DNA binding 0 CGGCGGTCTGGATCTCCCTGG 0.617000 NKAPL 222698 broad.mit.edu 37 6 28227548 28227548 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:28227548G>A uc003nkt.2 + 1 451 c.399G>A c.(397-399)GCG>GCA p.A133A ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 133 upper_aerodigestive_tract(1)|ovary(1) 2 AATTGGGAGCGCCTGAAGTGT 0.537000 TDRD6 221400 broad.mit.edu 37 6 46659618 46659618 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:46659618T>G uc003oyj.2 + 1 3753 c.3753T>G c.(3751-3753)TTT>TTG p.F1251L TDRD6_uc010jze.2_Missense_Mutation_p.F1245L NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1251 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GTCAAGTGTTTCCATTAACAA 0.328000 TFAP2D 83741 broad.mit.edu 37 6 50682950 50682950 + Missense_Mutation SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:50682950A>T uc003paf.2 + 2 673 c.161A>T c.(160-162)GAG>GTG p.E54V TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 54 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) ACCGGCACCGAGTTTGCGTCC 0.572000 GSTA1 2938 broad.mit.edu 37 6 52661050 52661050 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:52661050T>C uc003paz.2 - 4 314 c.202A>G c.(202-204)ACC>GCC p.T68A NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 68 Glutathione binding.|GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) ATGGCTCTGGTCTGCACCAGC 0.423000 BAI3 577 broad.mit.edu 37 6 69653787 69653787 + Silent SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:69653787A>C uc003pev.3 + 6 1544 c.1096A>C c.(1096-1098)AGA>CGA p.R366R BAI3_uc010kak.2_Silent_p.R366R NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 366 Extracellular (Potential).|TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TCGAGGCCAAAGAACAAGAAC 0.448000 KCNQ5 56479 broad.mit.edu 37 6 73830234 73830234 + Missense_Mutation SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:73830234A>T uc003pgk.2 + 8 1501 c.1154A>T c.(1153-1155)GAG>GTG p.E385V KCNQ5_uc003pgj.3_Missense_Mutation_p.E385V|KCNQ5_uc011dyh.1_Missense_Mutation_p.E385V|KCNQ5_uc011dyi.1_Missense_Mutation_p.E385V|KCNQ5_uc010kat.2_Missense_Mutation_p.E385V|KCNQ5_uc011dyj.1_Missense_Mutation_p.E385V|KCNQ5_uc011dyk.1_Missense_Mutation_p.E144V NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 385 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GCAGCTGATGAGAAATCTGTT 0.443000 KCNQ5 56479 broad.mit.edu 37 6 73900325 73900325 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:73900325A>G uc003pgk.2 + 12 1954 c.1607A>G c.(1606-1608)AAG>AGG p.K536R KCNQ5_uc011dyh.1_Missense_Mutation_p.K555R|KCNQ5_uc011dyi.1_Missense_Mutation_p.K546R|KCNQ5_uc010kat.2_Missense_Mutation_p.K527R|KCNQ5_uc011dyj.1_Missense_Mutation_p.K426R|KCNQ5_uc011dyk.1_Missense_Mutation_p.K286R NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 536 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GCAAAACGGAAGTTTAAGGAA 0.294000 COL12A1 1303 broad.mit.edu 37 6 75865381 75865381 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:75865381A>C uc003phs.2 - 16 3606 c.3440T>G c.(3439-3441)CTT>CGT p.L1147R COL12A1_uc003pht.2_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1147 Fibronectin type-III 8. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTCCTACCTAAGTTCCTCCAA 0.383000 GRM1 2911 broad.mit.edu 37 6 146673533 146673533 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:146673533T>G uc010khw.1 + 5 1804 c.1334T>G c.(1333-1335)ATC>AGC p.I445S GRM1_uc010khv.1_Missense_Mutation_p.I445S|GRM1_uc003qll.2_Missense_Mutation_p.I445S|GRM1_uc011edz.1_Missense_Mutation_p.I445S|GRM1_uc011eea.1_Missense_Mutation_p.I445S NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 445 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ATGAAGCCCATCGACGGCAGC 0.552000 PARK2 5071 broad.mit.edu 37 6 162206827 162206827 + Missense_Mutation SNP A A C rs56154308 TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:162206827A>C uc003qtx.3 - 7 982 c.848T>G c.(847-849)CTT>CGT p.L283R PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.L92R|PARK2_uc003qtw.3_Missense_Mutation_p.L92R|PARK2_uc003qty.3_Missense_Mutation_p.L255R|PARK2_uc003qtz.3_Missense_Mutation_p.L134R|PARK2_uc010kke.1_Missense_Mutation_p.L283R|PARK2_uc011egf.1_5'UTR NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 283 SYT11 binding 2.|RING-type 1; atypical. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GGAGTAGCCAAGTTGAGGGTC 0.433000 SDK1 221935 broad.mit.edu 37 7 4008964 4008964 + Missense_Mutation SNP C C T rs146705640 by1000genomes TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:4008964C>T uc003smx.2 + 11 1761 c.1622C>T c.(1621-1623)GCG>GTG p.A541V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 541 Ig-like C2-type 5. 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) CTACAGATCGCGCCCGTCTTC 0.552000 ETV1 2115 broad.mit.edu 37 7 13971158 13971158 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:13971158T>G uc011jxq.1 - 9 1510 c.771A>C c.(769-771)AAA>AAC p.K257N ETV1_uc011jxn.1_Missense_Mutation_p.K217N|ETV1_uc011jxo.1_Missense_Mutation_p.K154N|ETV1_uc011jxp.1_Missense_Mutation_p.K199N|ETV1_uc003ssw.3_Missense_Mutation_p.K257N|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.K239N|ETV1_uc011jxs.1_Missense_Mutation_p.K239N|ETV1_uc010ktv.2_Missense_Mutation_p.K126N NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 257 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 TGGGTTCCTGTTTAATCATCA 0.493000 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate ABCA13 154664 broad.mit.edu 37 7 48411843 48411843 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:48411843A>C uc003toq.2 + 33 10907 c.10882A>C c.(10882-10884)AGC>CGC p.S3628R ABCA13_uc010kys.1_Missense_Mutation_p.S702R|ABCA13_uc003tos.1_Missense_Mutation_p.S454R NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3628 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GTTGACCATAAGCAGTGCTAC 0.448000 CHCHD2 51142 broad.mit.edu 37 7 56171922 56171922 + Nonsense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:56171922G>T uc003tsa.2 - 2 378 c.297C>A c.(295-297)TAC>TAA p.Y99* PSPH_uc003trj.2_Intron NM_016139 NP_057223 Q9Y6H1 CHCH2_HUMAN coiled-coil-helix-coiled-coil-helix domain 99 mitochondrion 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTCCCACCTGGTAAGTGATGT 0.493000 AUTS2 26053 broad.mit.edu 37 7 69064894 69064894 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:69064894G>C uc003tvw.3 + 1 998 c.255G>C c.(253-255)GAG>GAC p.E85D AUTS2_uc003tvv.3_Missense_Mutation_p.E85D|AUTS2_uc003tvx.3_Missense_Mutation_p.E85D NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 85 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CGGCAGAAGAGGACATCATTG 0.632000 SPDYE5 442590 broad.mit.edu 37 7 75130983 75130983 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:75130983G>C uc011kfy.1 + 6 994 c.858G>C c.(856-858)AAG>AAC p.K286N NM_001099435 NP_001092905 A6NIY4 SPDE5_HUMAN speedy homolog E5 286 Arg-rich. 0 GGGCCAGGAAGAACCGCTCTC 0.577000 CACNA2D1 781 broad.mit.edu 37 7 81746366 81746366 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:81746366C>T uc003uhr.1 - 6 776 c.520G>A c.(520-522)GAG>AAG p.E174K NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 174 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTACAGCCCTCATAGATGTCA 0.403000 PCLO 27445 broad.mit.edu 37 7 82544696 82544696 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:82544696T>G uc003uhx.2 - 7 12895 c.12606A>C c.(12604-12606)AAA>AAC p.K4202N PCLO_uc003uhv.2_Missense_Mutation_p.K4202N|PCLO_uc010lec.2_Missense_Mutation_p.K1167N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4133 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TAGGTGAAAATTTTGACATTT 0.383000 ZNF804B 219578 broad.mit.edu 37 7 88963203 88963203 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:88963203T>G uc011khi.1 + 4 1445 c.907T>G c.(907-909)TTG>GTG p.L303V NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 303 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTCTAAAATTTTGCAAGACAA 0.333000 HNSCC(36;0.09) ZNF804B 219578 broad.mit.edu 37 7 88964949 88964949 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:88964949A>G uc011khi.1 + 4 3191 c.2653A>G c.(2653-2655)AAA>GAA p.K885E NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 885 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGATCTGGGAAAAGTCAGGCC 0.433000 HNSCC(36;0.09) CYP3A43 64816 broad.mit.edu 37 7 99459298 99459298 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:99459298G>A uc003urx.1 + 11 1192 c.1089G>A c.(1087-1089)ACG>ACA p.T363T CYP3A43_uc003ury.1_Silent_p.T363T|CYP3A43_uc003urz.1_Silent_p.T363T|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Silent_p.T253T|CYP3A43_uc003usb.1_Silent_p.T223T NM_057095 NP_476436 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, 363 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TGAATGAAACGCTCAGATTAT 0.428000 PPP1R3A 5506 broad.mit.edu 37 7 113518863 113518863 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:113518863T>G uc010ljy.1 - 4 2315 c.2284A>C c.(2284-2286)AGT>CGT p.S762R NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 762 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GGCCTGTCACTTCGTGCTGTC 0.408000 C7orf58 79974 broad.mit.edu 37 7 120876821 120876821 + Silent SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:120876821T>G uc003vjq.3 + 17 2556 c.2109T>G c.(2107-2109)TCT>TCG p.S703S C7orf58_uc003vjs.3_Silent_p.S703S|C7orf58_uc003vjt.3_Silent_p.S483S NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 703 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AGCCTATTTCTTCTGACTACA 0.353000 CHRM2 1129 broad.mit.edu 37 7 136700337 136700337 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:136700337A>G uc003vtf.1 + 4 1348 c.725A>G c.(724-726)AAG>AGG p.K242R CHRM2_uc003vtg.1_Missense_Mutation_p.K242R|CHRM2_uc003vtj.1_Missense_Mutation_p.K242R|CHRM2_uc003vtk.1_Missense_Mutation_p.K242R|CHRM2_uc003vtl.1_Missense_Mutation_p.K242R|CHRM2_uc003vtm.1_Missense_Mutation_p.K242R|CHRM2_uc003vti.1_Missense_Mutation_p.K242R|CHRM2_uc003vto.1_Missense_Mutation_p.K242R|CHRM2_uc003vtn.1_Missense_Mutation_p.K242R|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 242 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AGGATAGTGAAGCCAAACAAT 0.498000 OR6B1 135946 broad.mit.edu 37 7 143701562 143701562 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:143701562C>T uc003wdt.1 + 1 473 c.473C>T c.(472-474)GCG>GTG p.A158V NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) ATCTCCCTGGCGAAGATCTAC 0.537000 ZNF398 57541 broad.mit.edu 37 7 148876198 148876198 + Silent SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:148876198A>C uc003wfl.2 + 6 1509 c.1234A>C c.(1234-1236)AGA>CGA p.R412R ZNF398_uc011kul.1_Silent_p.R241R|ZNF398_uc011kum.1_Silent_p.R417R NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 412 C2H2-type 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) TCACCCATCAAGACTTACCTA 0.587000 RHEB 6009 broad.mit.edu 37 7 151181842 151181842 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:151181842A>C uc003wkh.1 - 3 586 c.173T>G c.(172-174)CTT>CGT p.L58R NM_005614 NP_005605 Q15382 RHEB_HUMAN Ras homolog enriched in brain precursor 58 cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding large_intestine(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) TGTGTCTACAAGTTGAAGATG 0.358000 CSMD1 64478 broad.mit.edu 37 8 2807839 2807839 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr8:2807839A>C uc011kwk.1 - 67 10621 c.10231T>G c.(10231-10233)TTA>GTA p.L3411V CSMD1_uc011kwj.1_Missense_Mutation_p.L2725V|CSMD1_uc010lrg.2_Missense_Mutation_p.L1302V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3411 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) TTCAGGAGTAAGTGGGCCTCC 0.398000 SH2D4A 63898 broad.mit.edu 37 8 19218776 19218776 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr8:19218776G>A uc003wzb.2 + 6 993 c.657G>A c.(655-657)ACG>ACA p.T219T SH2D4A_uc011kym.1_Silent_p.T174T|SH2D4A_uc003wzc.2_Silent_p.T219T NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 219 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) AAGAGAGAACGAAGCAGATTT 0.348000 CHRNA6 8973 broad.mit.edu 37 8 42620260 42620260 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr8:42620260G>C uc003xpj.2 - 2 213 c.167C>G c.(166-168)TCC>TGC p.S56C CHRNA6_uc011lcw.1_Missense_Mutation_p.S56C NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 56 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GACAGGGTCGGAAACGTTTTC 0.522000 PXDNL 137902 broad.mit.edu 37 8 52321285 52321285 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr8:52321285G>C uc003xqu.3 - 17 3000 c.2899C>G c.(2899-2901)CTG>GTG p.L967V PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 967 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATGGCGGCCAGAGCCAGATGC 0.647000 PREX2 80243 broad.mit.edu 37 8 69046292 69046292 + Splice_Site SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr8:69046292A>T uc003xxv.1 + 32 3794 c.3767_splice c.e32-2 p.D1256_splice NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CTTTGATCACAGATAGTGAGA 0.453000 PREX2 80243 broad.mit.edu 37 8 69069558 69069558 + Silent SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr8:69069558A>T uc003xxv.1 + 35 4260 c.4233A>T c.(4231-4233)GCA>GCT p.A1411A NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1411 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TTTACACAGCACTAGAGAGCA 0.323000 SLCO5A1 81796 broad.mit.edu 37 8 70744764 70744764 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr8:70744764T>C uc003xyl.2 - 2 852 c.145A>G c.(145-147)AGC>GGC p.S49G SLCO5A1_uc010lzb.2_Missense_Mutation_p.S49G|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.S49G|SLCO5A1_uc010lzc.2_Missense_Mutation_p.S49G NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 49 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GGACTGAGGCTTGGCCGGCAG 0.647000 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZFHX4 79776 broad.mit.edu 37 8 77620259 77620259 + Missense_Mutation SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr8:77620259C>G uc003yav.2 + 3 3378 c.2991C>G c.(2989-2991)CAC>CAG p.H997Q ZFHX4_uc003yat.1_Missense_Mutation_p.H997Q|ZFHX4_uc003yau.1_Missense_Mutation_p.H1023Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H997Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 997 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) ATCACAGGCACGAGGCGGCCC 0.468000 HNSCC(33;0.089) KCNQ3 3786 broad.mit.edu 37 8 133150175 133150175 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr8:133150175C>T uc003ytj.2 - 12 1882 c.1657G>A c.(1657-1659)GGG>AGG p.G553R KCNQ3_uc010mdt.2_Missense_Mutation_p.G553R NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 553 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCGAGATGCCCGGCAGAATAC 0.458000 PTPRD 5789 broad.mit.edu 37 9 8500770 8500770 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr9:8500770A>G uc003zkk.2 - 23 2823 c.2112T>C c.(2110-2112)ATT>ATC p.I704I PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.I704I|PTPRD_uc003zkm.2_Silent_p.I691I|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 704 Fibronectin type-III 4.|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) CATTGGTTCGAATCAACACGG 0.473000 TSP Lung(15;0.13) IFNA17 3451 broad.mit.edu 37 9 21227998 21227998 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr9:21227998A>G uc003zos.1 - 1 224 c.175T>C c.(175-177)TTT>CTT p.F59L IFNA14_uc003zoo.1_Intron NM_021268 NP_067091 P01571 IFN17_HUMAN interferon, alpha 17 precursor 59 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GGAAGTCCAAAGTCATGTCTG 0.512000 CCDC107 203260 broad.mit.edu 37 9 35661081 35661081 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr9:35661081G>A uc011lox.1 + 5 815 c.749G>A c.(748-750)CGG>CAG p.R250Q CCDC107_uc011loy.1_Missense_Mutation_p.R223Q|CCDC107_uc003zxj.2_3'UTR|CCDC107_uc003zxk.2_3'UTR|C9orf100_uc003zxl.2_Intron|C9orf100_uc003zxm.1_3'UTR NM_174923 NP_777583 Q8WV48 CC107_HUMAN coiled-coil domain containing 107 precursor 250 integral to membrane 0 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CGGGGACTACGGAGAAGGTGC 0.582000 PAPPA 5069 broad.mit.edu 37 9 118949522 118949522 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr9:118949522C>T uc004bjn.2 + 2 886 c.505C>T c.(505-507)CGC>TGC p.R169C PAPPA_uc011lxp.1_Translation_Start_Site|PAPPA_uc011lxq.1_Translation_Start_Site NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 169 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CAAAGACCCACGCTACTTTTT 0.542000 TLR4 7099 broad.mit.edu 37 9 120475722 120475722 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr9:120475722A>C uc004bjz.2 + 3 1607 c.1316A>C c.(1315-1317)GAG>GCG p.E439A TLR4_uc004bka.2_Missense_Mutation_p.E399A|TLR4_uc004bkb.2_Missense_Mutation_p.E239A NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 439 LRR 13.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CAAATGAGTGAGTTTTCAGTA 0.388000 FCN2 2220 broad.mit.edu 37 9 137778358 137778358 + Silent SNP C C T rs142072878 byFrequency TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr9:137778358C>T uc004cfg.1 + 7 652 c.642C>T c.(640-642)GAC>GAT p.D214D FCN2_uc004cfh.1_Silent_p.D176D NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 214 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) AGGTGGCCGACGAGGCGGAGA 0.567000 MAMDC4 158056 broad.mit.edu 37 9 139747813 139747813 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr9:139747813C>T uc004cjs.2 + 3 281 c.231C>T c.(229-231)GAC>GAT p.D77D MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 77 Extracellular (Potential).|MAM 1. protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GCTGGCGGGACATTAGTACCT 0.677000 ACE2 59272 broad.mit.edu 37 X 15593858 15593858 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:15593858T>G uc004cxa.1 - 10 1541 c.1373A>C c.(1372-1374)AAG>ACG p.K458T ACE2_uc004cxb.2_Missense_Mutation_p.K458T NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 458 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) CCACCTCCACTTCTCTAACAT 0.378000 NR0B1 190 broad.mit.edu 37 X 30326665 30326665 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:30326665C>T uc004dcf.3 - 1 831 c.816G>A c.(814-816)TTG>TTA p.L272L NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 272 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) GGAAGCAGGGCAAGTACTTGA 0.662000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) USP9X 8239 broad.mit.edu 37 X 41075642 41075642 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:41075642G>A uc004dfb.2 + 35 6455 c.5822G>A c.(5821-5823)CGC>CAC p.R1941H USP9X_uc004dfc.2_Missense_Mutation_p.R1941H NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1941 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TCATACAGGCGCCAGAAAAGG 0.378000 AR 367 broad.mit.edu 37 X 66765865 66765865 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:66765865T>C uc004dwu.1 + 1 1992 c.877T>C c.(877-879)TCT>CCT p.S293P AR_uc011mpd.1_Missense_Mutation_p.S293P|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.S293P NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 291 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ATGCAAAGGTTCTCTGCTAGA 0.567000 Androgen_Insensitivity_Syndrome NLGN3 54413 broad.mit.edu 37 X 70375090 70375090 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:70375090G>A uc004dzd.1 + 4 804 c.604G>A c.(604-606)GTC>ATC p.V202I NLGN3_uc010nlb.1_Missense_Mutation_p.V162I|NLGN3_uc004dzb.2_Missense_Mutation_p.V182I|NLGN3_uc004dzc.2_Missense_Mutation_p.V65I|NLGN3_uc011mps.1_Missense_Mutation_p.V162I|NLGN3_uc004dze.2_5'UTR|NLGN3_uc011mpr.1_Missense_Mutation_p.V162I NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 202 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) TGCTAAACCCGTCATGGTCTA 0.587000 KIAA2022 340533 broad.mit.edu 37 X 73961616 73961616 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:73961616T>G uc004eby.2 - 3 3393 c.2776A>C c.(2776-2778)AAT>CAT p.N926H NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 926 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GTGAGGTTATTTTCCATGGAG 0.478000 KLHL4 56062 broad.mit.edu 37 X 86919826 86919826 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:86919826T>G uc004efb.2 + 10 2170 c.1988T>G c.(1987-1989)GTT>GGT p.V663G KLHL4_uc004efa.2_Missense_Mutation_p.V663G NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 663 Kelch 5. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CGAGATGCTGTTGCTGTGTGC 0.428000 DIAPH2 1730 broad.mit.edu 37 X 95993746 95993746 + Silent SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:95993746C>A uc004efu.3 + 3 723 c.327C>A c.(325-327)CTC>CTA p.L109L DIAPH2_uc004eft.3_Silent_p.L109L|DIAPH2_uc004efs.2_Silent_p.L109L NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 109 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 TATTGGATCTCTTTGAAAAAA 0.363000 ARL13A 392509 broad.mit.edu 37 X 100242442 100242442 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:100242442C>T uc004ego.2 + 6 666 c.550C>T c.(550-552)CGC>TGC p.R184C ARL13A_uc011mrf.1_Missense_Mutation_p.R184C|ARL13A_uc010nng.2_Missense_Mutation_p.R184C NM_001012990 NP_001013008 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13 isoform a 184 GTP binding ovary(1) 1 TGAAGGACTGCGCTGGCTATT 0.473000 NXT2 55916 broad.mit.edu 37 X 108785790 108785790 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:108785790A>C uc004eof.1 + 4 446 c.302A>C c.(301-303)AAG>ACG p.K101T NXT2_uc004eoe.1_Missense_Mutation_p.K156T|NXT2_uc004eog.1_Missense_Mutation_p.K73T NM_018698 NP_061168 Q9NPJ8 NXT2_HUMAN nuclear transport factor 2-like export factor 2 101 NTF2. mRNA transport|protein transport cytoplasm|nucleus ovary(1) 1 GGAACTGTGAAGTTTGATGGA 0.403000 GRIA3 2892 broad.mit.edu 37 X 122319754 122319754 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:122319754C>T uc004etq.3 + 3 473 c.180C>T c.(178-180)ACC>ACT p.T60T GRIA3_uc004etr.3_Silent_p.T60T|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.T44T|GRIA3_uc010nqs.1_Silent_p.T60T NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 60 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TATACAACACCAACCAGAACA 0.453000 F9 2158 broad.mit.edu 37 X 138630607 138630607 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:138630607G>C uc004fas.1 + 5 506 c.477G>C c.(475-477)GAG>GAC p.E159D F9_uc004fat.1_Missense_Mutation_p.E121D NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 159 EGF-like 2. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) CCTGTACTGAGGGATATCGAC 0.358000 SPANXC 64663 broad.mit.edu 37 X 140335763 140335763 + Silent SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:140335763T>G uc004fbk.2 - 2 237 c.181A>C c.(181-183)AGA>CGA p.R61R SPANXC_uc004fbl.2_RNA NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN sperm protein associated with the nucleus, X 61 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) GGAGATGTTCTTTTCACGTTC 0.483000 SLITRK2 84631 broad.mit.edu 37 X 144904233 144904233 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:144904233G>A uc004fcd.2 + 5 1280 c.290G>A c.(289-291)GGG>GAG p.G97E SLITRK2_uc010nsp.2_Missense_Mutation_p.G97E|SLITRK2_uc010nso.2_Missense_Mutation_p.G97E|SLITRK2_uc011mwq.1_Missense_Mutation_p.G97E|SLITRK2_uc011mwr.1_Missense_Mutation_p.G97E|SLITRK2_uc011mws.1_Missense_Mutation_p.G97E|SLITRK2_uc004fcg.2_Missense_Mutation_p.G97E|SLITRK2_uc011mwt.1_Missense_Mutation_p.G97E NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 97 Extracellular (Potential).|LRR 2. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GGTAACAACGGGTTACAGGAG 0.448000 FMR1NB 158521 broad.mit.edu 37 X 147088344 147088344 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:147088344T>G uc004fcm.2 + 3 594 c.520T>G c.(520-522)TTT>GTT p.F174V NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 174 P-type.|Extracellular (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CTTCAAATGTTTTGCTCCATT 0.348000 MAGEA4 4103 broad.mit.edu 37 X 151092883 151092883 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chrX:151092883A>C uc004fez.2 + 3 903 c.747A>C c.(745-747)CAA>CAC p.Q249H MAGEA4_uc004ffa.2_Missense_Mutation_p.Q249H|MAGEA4_uc004ffb.2_Missense_Mutation_p.Q249H|MAGEA4_uc004ffc.2_Missense_Mutation_p.Q249H|MAGEA4_uc004ffd.2_Missense_Mutation_p.Q249H NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 249 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGCTCACCCAAGATTGGGTGC 0.587000 TP53 7157 broad.mit.edu 37 17 7579585 7579585 + Frame_Shift_Del DEL G G - rs11575998 TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr17:7579585delG uc002gim.2 - 4 296 c.102delC c.(100-102)CCCfs p.P34fs TP53_uc002gig.1_Frame_Shift_Del_p.P34fs|TP53_uc002gih.2_Frame_Shift_Del_p.P34fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P34fs|TP53_uc010cni.1_Frame_Shift_Del_p.P34fs|TP53_uc002gij.2_Frame_Shift_Del_p.P34fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P49fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 34 Transcription activation (acidic).|Interaction with HRMT1L2. P -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.P34L(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGACGGCAAGGGGGACTGTA 0.383 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) IGSF11 152404 broad.mit.edu 37 3 118621778 118621780 + In_Frame_Del DEL AGA AGA - rs147053288 TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr3:118621777_118621779CAGA>C uc003ebw.3 - 6 1131_1133 c.884_886TCTG>G c.(883-888)tctgcc>tGcc p.295_296SA>C IGSF11_uc011biv.2_In_Frame_Del_p.267_268SA>C|IGSF11_uc003ebx.3_In_Frame_Del_p.271_272SA>C|IGSF11_uc003eby.3_In_Frame_Del_p.294_295SA>C|IGSF11_uc003ebz.3_In_Frame_Del_p.270_271SA>C|IGSF11_uc010hqs.3_In_Frame_Del_p.294_295SA>C NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA. 295 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AATGCTTTGGCAGAAGAACACTT 0.419 C6orf58 352999 broad.mit.edu 37 6 127899908 127899910 + In_Frame_Del DEL TGG TGG - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr6:127899907_127899909TTGG>T uc003qbh.3 + 1 390_392 c.378_380TTGG>T c.(376-381)agttgg>agTg p.W128del NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA. 128 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) CTGTGGACAGTTGGTGGGCTGGT 0.429 ITGB8 3696 broad.mit.edu 37 7 20371450 20371451 + Frame_Shift_Ins INS - - T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr7:20371449_20371450C>CT uc003suu.3 + 0 725_726 c.20_21C>CT c.(19-21)gctfs p.A7fs ITGB8_uc011jyh.2_Intron|ITGB8_uc003sut.3_Frame_Shift_Ins_p.A7fs NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 7 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 TCGGCCCTGGCTTTTTTTACCG 0.668 EDNRB 1910 broad.mit.edu 37 13 78472431 78472431 + Frame_Shift_Del DEL T T - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr13:78472430_78472430GT>G uc001vkp.1 - 7 1657 c.1504_1504AC>C c.(1504-1506)cagfs p.Q502fs EDNRB_uc001vkq.1_Frame_Shift_Del_p.Q412fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.Q412fs|EDNRB_uc010aez.1_Intron NM_001201397 NP_001188326 P24530 EDNRB_HUMAN Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA. 412 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TCCAAGGACTGTTTTTCTTCA 0.388 CTDSPL2 51496 broad.mit.edu 37 15 44813530 44813530 + Frame_Shift_Del DEL G G - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr15:44813529_44813529AG>A uc001ztr.3 + 11 1676 c.1260_1260AG>A c.(1258-1260)atafs p.I420fs CTDSPL2_uc001zts.3_Frame_Shift_Del_p.I420fs|CTDSPL2_uc001ztt.3_Frame_Shift_Del_p.I420fs|CTDSPL2_uc010bdv.3_Frame_Shift_Del_p.I348fs NM_016396 NP_057480 Q05D32 CTSL2_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA. 420 FCP1 homology. phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) GAATCCCTATAGAAAGTTGGT 0.279 DLGAP1 9229 broad.mit.edu 37 18 3879367 3879379 + Frame_Shift_Del DEL CTGTGAGGCCGAG CTGTGAGGCCGAG - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d g.chr18:3879366_3879378ACTGTGAGGCCGAG>A uc002kmf.3 - 3 1218_1230 c.691_703CTCGGCCTCACAGT>T c.(691-705)tcggcctcacagtacfs p.S231fs DLGAP1_uc010wyz.2_Frame_Shift_Del_p.S231fs|DLGAP1_uc002kmk.2_Frame_Shift_Del_p.S231fs|LOC201477_uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA. 231 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane p.S231S(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TCCAGGAAGTACTGTGAGGCCGAGCGGTCGGGG 0.653