Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PER3 8863 broad.mit.edu 37 1 7887411 7887411 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:7887411C>T uc001aoo.2 + 17 2573 c.2398C>T c.(2398-2400)CCA>TCA p.P800S PER3_uc009vmg.1_Missense_Mutation_p.P808S|PER3_uc009vmh.1_Missense_Mutation_p.P801S|PER3_uc001aop.2_Missense_Mutation_p.P808S|PER3_uc010nzw.1_Missense_Mutation_p.P489S NM_016831 NP_058515 P56645 PER3_HUMAN period 3 800 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTACCTCGTCCCAGCTTTTCC 0.697 NA 19 73 0 0 0.007413 0 0 UBE4B 10277 broad.mit.edu 37 1 10228257 10228257 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:10228257G>T uc001aqs.3 + 24 3975 c.3262G>T c.(3262-3264)GCC>TCC p.A1088S UBE4B_uc001aqr.3_Missense_Mutation_p.A959S|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.A543S|UBE4B_uc001aqu.2_5'Flank NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 1088 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CTCTTACCTCGCCCTGGCCAC 0.582 NA 6 37 5.9392e-07 8.31245e-07 0.001168 1 0 PLOD1 5351 broad.mit.edu 37 1 12024297 12024297 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:12024297G>T uc001atm.2 + 12 1359 c.1268G>T c.(1267-1269)AGT>ATT p.S423I PLOD1_uc010obb.1_Missense_Mutation_p.S470I NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 423 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GGGGCTCTCAGTGCAGATGGC 0.632 NA 37 159 4.01765e-15 7.31749e-15 0.009718 1 0 PADI3 51702 broad.mit.edu 37 1 17575706 17575706 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:17575706C>A uc001bai.2 + 1 114 c.74C>A c.(73-75)ACC>AAC p.T25N NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 25 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGCGTGGAGACCCTCGTGGAC 0.612 NA 13 47 9.31168e-06 1.22305e-05 0.001855 1 0 UBR4 23352 broad.mit.edu 37 1 19525396 19525396 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:19525396G>A uc001bbi.2 - 4 409 c.405C>T c.(403-405)GGC>GGT p.G135G NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 135 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGTGCACAGGCCCTTGATTA 0.338 NA 19 58 0 0 0.006122 0 0 DNAJC8 22826 broad.mit.edu 37 1 28559490 28559490 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:28559490C>A uc001bpn.2 - 1 53 c.20G>T c.(19-21)AGC>ATC p.S7I DNAJC8_uc001bpo.2_RNA NM_014280 NP_055095 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 7 nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) TGAAGTCCCGCTCTCTCCTGA 0.632 NA 5 32 0.00116845 0.00134126 0.001168 1 0 THRAP3 9967 broad.mit.edu 37 1 36752298 36752298 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:36752298G>C uc001cae.3 + 4 691 c.467G>C c.(466-468)CGC>CCC p.R156P THRAP3_uc001caf.3_Missense_Mutation_p.R156P|THRAP3_uc001cag.1_Missense_Mutation_p.R156P NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 156 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGGTCAAGGCGCTCCTCATCC 0.527 Pancreas(129;785 1795 20938 23278 32581) NA T USP6 aneurysmal bone cysts 60 240 0 0 0.00361 0 0 PTCH2 8643 broad.mit.edu 37 1 45294011 45294011 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:45294011G>A uc010olf.1 - 13 1678 c.1666C>T c.(1666-1668)CGG>TGG p.R556W PTCH2_uc010olg.1_Missense_Mutation_p.R254W NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 556 Cytoplasmic (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) CAGTGGCGCCGCCGTAGGTCC 0.657 NA Basal_Cell_Nevus_syndrome 10 30 0 0 0.001368 0 0 DMBX1 127343 broad.mit.edu 37 1 46977793 46977793 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:46977793C>A uc001cpx.2 + 4 791 c.776C>A c.(775-777)TCC>TAC p.S259Y DMBX1_uc001cpw.2_Missense_Mutation_p.S254Y NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 259 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TATTCCTCGTCCCCGCTGAGC 0.637 NA 33 124 2.09667e-21 4.16286e-21 0.003755 1 0 KIAA0494 9813 broad.mit.edu 37 1 47183662 47183662 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:47183662C>A uc001cqk.3 - 1 1075 c.98G>T c.(97-99)CGC>CTC p.R33L KIAA0494_uc010omh.1_Missense_Mutation_p.R33L|KIAA0494_uc001cql.1_Missense_Mutation_p.R33L NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 33 calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) AGGCTCAGTGCGAAGCAGGCG 0.537 NA 7 34 8.12818e-05 9.89581e-05 0.001984 1 0 TAL1 6886 broad.mit.edu 37 1 47685528 47685528 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:47685528G>T uc001cqx.2 - 4 1437 c.860C>A c.(859-861)CCC>CAC p.P287H TAL1_uc009vyq.2_Missense_Mutation_p.P44T|TAL1_uc001cqy.2_Missense_Mutation_p.P287H NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 287 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 GCTGGAGTTGGGGGAAAGCAC 0.592 NA T TRD@|SIL lymphoblastic leukemia/biphasic 5 32 1.23904e-05 1.59673e-05 0.000602 1 0 ELAVL4 1996 broad.mit.edu 37 1 50610738 50610738 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:50610738C>A uc001csb.2 + 2 387 c.119C>A c.(118-120)ACC>AAC p.T40N ELAVL4_uc001cry.3_Missense_Mutation_p.T43N|ELAVL4_uc001crz.3_Missense_Mutation_p.T40N|ELAVL4_uc001csa.3_Missense_Mutation_p.T57N|ELAVL4_uc001csc.3_Missense_Mutation_p.T40N|ELAVL4_uc009vyu.2_Missense_Mutation_p.T45N|ELAVL4_uc010omz.1_Missense_Mutation_p.T45N NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 40 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 ACAGGGGCAACCACAGATGAC 0.473 NA 13 63 0.000219431 0.000259743 0.00245 1 0 ZCCHC11 23318 broad.mit.edu 37 1 52981709 52981709 + Nonsense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:52981709C>A uc001ctx.2 - 3 970 c.736G>T c.(736-738)GAA>TAA p.E246* ZCCHC11_uc001cty.2_Nonsense_Mutation_p.E246*|ZCCHC11_uc001ctz.2_Nonsense_Mutation_p.E246*|ZCCHC11_uc009vze.1_Nonsense_Mutation_p.E246*|ZCCHC11_uc009vzf.1_Nonsense_Mutation_p.E5*|ZCCHC11_uc001cub.2_Nonsense_Mutation_p.E246*|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Nonsense_Mutation_p.E246* NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 246 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 TTATTAGATTCATCATTCTTC 0.318 NA 9 35 0.00448238 0.00499424 0.004482 1 0 PODN 127435 broad.mit.edu 37 1 53544622 53544622 + Silent SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:53544622G>C uc001cuv.2 + 8 1591 c.1584G>C c.(1582-1584)CTG>CTC p.L528L PODN_uc001cuw.2_Silent_p.L509L|PODN_uc010onr.1_Silent_p.L509L|PODN_uc010ons.1_Silent_p.L386L NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 480 LRR 16. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 TGCGTGAGCTGTACCTCACCA 0.662 NA 3 5 0 0 0.004672 0 0 TMEM48 55706 broad.mit.edu 37 1 54252918 54252918 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:54252918T>A uc001cvs.2 - 16 1954 c.1713A>T c.(1711-1713)TTA>TTT p.L571F TMEM48_uc010onu.1_Missense_Mutation_p.L531F|TMEM48_uc001cvt.2_Missense_Mutation_p.L448F|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Missense_Mutation_p.L236F NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN transmembrane protein 48 571 Cytoplasmic (Potential). mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore ovary(1)|pancreas(1) 2 ATGCTGCTACTAAGTGCGACA 0.264 Ovarian(178;223 2720 6667 9715) NA 25 135 0 0 0.003954 0 0 YIPF1 54432 broad.mit.edu 37 1 54337113 54337113 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:54337113C>A uc001cvu.2 - 7 750 c.413G>T c.(412-414)GGG>GTG p.G138V YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA NM_018982 NP_061855 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 138 Helical; (Potential). integral to membrane|transport vesicle large_intestine(1)|ovary(1) 2 GGAAAGATTCCCACTAATTGC 0.423 NA 27 86 9.39395e-14 1.66651e-13 0.00632 1 0 FAM151A 338094 broad.mit.edu 37 1 55077354 55077354 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:55077354G>T uc001cxn.2 - 6 997 c.865C>A c.(865-867)CGG>AGG p.R289R ACOT11_uc001cxm.1_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN hypothetical protein LOC338094 289 integral to membrane 0 GTGTTATCCCGGACGTAGAGC 0.577 NA 18 85 1.99824e-07 2.83741e-07 0.00499 1 0 C1orf175 374977 broad.mit.edu 37 1 55158101 55158101 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:55158101G>C uc010ooe.1 + 16 3040 c.2716G>C c.(2716-2718)GTG>CTG p.V906L C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.V474L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.V424L|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.V906L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.V108L|C1orf175_uc001cxu.2_Missense_Mutation_p.V52L NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 906 integral to membrane binding 0 TGGCAGCTGGGTGGTGAAAGT 0.597 NA 23 87 0 0 0.004656 0 0 SERBP1 26135 broad.mit.edu 37 1 67889914 67889914 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:67889914C>T uc001ddv.2 - 5 927 c.787G>A c.(787-789)GAA>AAA p.E263K SERBP1_uc001ddx.2_Missense_Mutation_p.E257K|SERBP1_uc001ddy.2_Missense_Mutation_p.E242K|SERBP1_uc001ddw.2_Missense_Mutation_p.E248K NM_001018067 NP_001018077 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 isoform 1 263 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding skin(1) 1 GGATGATGTTCTTCACCTTCA 0.368 NA 19 102 0 0 0.00333 0 0 FPGT 8790 broad.mit.edu 37 1 74671407 74671407 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:74671407A>G uc001dgb.1 + 4 1713 c.1676A>G c.(1675-1677)TAT>TGT p.Y559C TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.Y184C|FPGT_uc010oqu.1_Missense_Mutation_p.Y305C|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 559 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 CTGAATAGCTATAAGTTGCTG 0.338 NA 15 61 0 0 0.004007 0 0 TNNI3K 51086 broad.mit.edu 37 1 74834759 74834759 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:74834759C>A uc001dgf.1 + 14 1426 c.1375C>A c.(1375-1377)CAG>AAG p.Q459K TNNI3K_uc001dgc.1_Missense_Mutation_p.Q560K|TNNI3K_uc001dgd.2_Missense_Mutation_p.Q560K|TNNI3K_uc001dge.1_Missense_Mutation_p.Q560K NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 459 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 TTTCCATCTTCAGCTCTCAGA 0.338 NA 15 33 1.3612e-06 1.86687e-06 0.003163 1 0 C1orf173 127254 broad.mit.edu 37 1 75038906 75038906 + Nonsense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:75038906C>A uc001dgg.2 - 14 2707 c.2488G>T c.(2488-2490)GAG>TAG p.E830* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 830 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GGAGGGATCTCCCTTTTTTCT 0.572 NA 23 78 7.87624e-14 1.40456e-13 0.00278 1 0 FAM73A 374986 broad.mit.edu 37 1 78324681 78324681 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:78324681C>T uc001dhx.2 + 9 1087 c.1055C>T c.(1054-1056)CCA>CTA p.P352L FAM73A_uc010ork.1_Missense_Mutation_p.P352L|FAM73A_uc010orl.1_Missense_Mutation_p.P314L|FAM73A_uc001dhy.1_Missense_Mutation_p.P141L NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 352 integral to membrane ovary(1) 1 Colorectal(170;0.226) TGTCACTGCCCATTTTACGAG 0.388 NA 15 73 0 0 0.00245 0 0 IFI44 10561 broad.mit.edu 37 1 79120844 79120844 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:79120844G>T uc001dip.3 + 4 764 c.640G>T c.(640-642)GTA>TTA p.V214L IFI44_uc010orr.1_Missense_Mutation_p.V214L|IFI44_uc010ors.1_5'UTR NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 214 response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 CCAAGGGCATGTAACGCATCA 0.463 NA 26 105 2.48779e-11 4.08453e-11 0.005443 1 0 LMO4 8543 broad.mit.edu 37 1 87805252 87805252 + Nonsense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:87805252C>A uc001dmi.2 + 3 1050 c.270C>A c.(268-270)TGC>TGA p.C90* LMO4_uc001dmj.2_Nonsense_Mutation_p.C90* NM_006769 NP_006760 P61968 LMO4_HUMAN LIM domain only 4 90 LIM zinc-binding 2. neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding 0 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) GCAGCGCTTGCGGACAGTCGA 0.388 NA 13 24 4.7546e-09 7.29752e-09 0.004007 1 0 RBMXL1 494115 broad.mit.edu 37 1 89448560 89448560 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:89448560C>G uc009wcx.2 - 3 1666 c.950G>C c.(949-951)CGT>CCT p.R317P CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.R317P NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 317 Ser-rich. nucleotide binding|RNA binding 0 ATATCCATCACGTGAGCTGCT 0.498 NA 58 235 0 0 0.00361 0 0 GBP4 115361 broad.mit.edu 37 1 89657124 89657124 + Silent SNP G G T rs141089744 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:89657124G>T uc001dnb.2 - 6 852 c.736C>A c.(736-738)CGG>AGG p.R246R NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 246 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) AAGCACTTCCGTTTTCGGAAG 0.393 NA 18 74 1.67942e-08 2.51544e-08 0.006122 1 0 ABCA4 24 broad.mit.edu 37 1 94473843 94473843 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:94473843C>A uc001dqh.2 - 42 5950 c.5846G>T c.(5845-5847)GGC>GTC p.G1949V ABCA4_uc001dqi.1_Missense_Mutation_p.G68V NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1949 ABC transporter 2.|Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GCTGGAGGTGCCTGGATAAAT 0.542 NA 12 39 5.50884e-06 7.29174e-06 0.001368 1 0 DBT 1629 broad.mit.edu 37 1 100671808 100671808 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:100671808A>T uc001dta.2 - 10 1292 c.1259T>A c.(1258-1260)ATT>AAT p.I420N DBT_uc010oug.1_Missense_Mutation_p.I239N NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 420 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) AAGGGCCCCAATGGCTACTTC 0.333 NA 16 58 0 0 0.007413 0 0 NTNG1 22854 broad.mit.edu 37 1 107866972 107866972 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:107866972G>T uc001dvh.3 + 3 1033 c.315G>T c.(313-315)CTG>CTT p.L105L NTNG1_uc001dvf.3_Silent_p.L105L|NTNG1_uc010out.1_Silent_p.L105L|NTNG1_uc001dvc.3_Silent_p.L105L|NTNG1_uc001dvd.1_Silent_p.L105L NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 105 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CCCCTGAGCTGATGTTTGATT 0.488 NA 50 194 4.01344e-20 7.89965e-20 0.00361 1 0 SLC6A17 388662 broad.mit.edu 37 1 110714731 110714731 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:110714731C>A uc009wfq.2 + 3 797 c.336C>A c.(334-336)CCC>CCA p.P112P NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 112 Helical; Name=2; (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TCGGGATCCCCCTCTTCTTCC 0.627 NA 3 31 0.00024832 0.000291915 0.009096 1 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112997080 112997080 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:112997080G>T uc001ebx.2 + 5 568 c.340G>T c.(340-342)GAC>TAC p.D114Y CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 114 Potential. actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGTGATCCTAGACCTTGAGGA 0.398 NA 7 54 0.00307968 0.00347099 0.00308 1 0 CASQ2 845 broad.mit.edu 37 1 116269693 116269693 + Silent SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:116269693T>C uc001efx.3 - 6 921 c.657A>G c.(655-657)CCA>CCG p.P219P CASQ2_uc010owu.1_Silent_p.P148P NM_001232 NP_001223 O14958 CASQ2_HUMAN cardiac calsequestrin 2 precursor 219 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CATCCATAAATGGCTCATAGA 0.403 NA 6 37 0 0 0.001168 0 0 IGSF3 3321 broad.mit.edu 37 1 117158899 117158899 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:117158899A>G uc001egr.1 - 3 929 c.224T>C c.(223-225)ATG>ACG p.M75T IGSF3_uc001egq.1_Missense_Mutation_p.M75T NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 75 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGAAGAGTCCATGGTGCTGAC 0.542 NA 3 37 0 0 0.006214 0 0 ZNF697 90874 broad.mit.edu 37 1 120168693 120168693 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:120168693C>A uc001ehy.1 - 2 145 c.31G>T c.(31-33)GCA>TCA p.A11S NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) TCCTGGTGTGCACAGACACCC 0.483 NA 36 150 4.00102e-26 8.30606e-26 0.00623 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144882495 144882495 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:144882495C>A uc001elw.3 - 24 3815 c.3524G>T c.(3523-3525)AGA>ATA p.R1175I NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.R182I NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1175 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTCTGGGGTCTGGGGAAAGG 0.512 NA T PDGFRB MPD 10 94 1.58986e-06 2.1588e-06 0.008291 1 0 FLG 2312 broad.mit.edu 37 1 152277708 152277708 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:152277708G>C uc001ezu.1 - 3 9690 c.9654C>G c.(9652-9654)GAC>GAG p.D3218E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3218 Filaggrin 19.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTGTCACTGTCCTGGCTCA 0.567 NA Ichthyosis 60 246 0 0 0.00361 0 0 FLG 2312 broad.mit.edu 37 1 152284877 152284877 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:152284877A>G uc001ezu.1 - 3 2521 c.2485T>C c.(2485-2487)TCC>CCC p.S829P uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 829 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGTGCCTGGAGTTGTCTCGT 0.577 NA Ichthyosis 9 372 0 0 0.004482 0 0 FLG2 388698 broad.mit.edu 37 1 152325965 152325965 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:152325965G>T uc001ezw.3 - 3 4370 c.4297C>A c.(4297-4299)CAC>AAC p.H1433N uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1433 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCCCTGAGTGCACTTCACTG 0.542 NA 71 341 2.26907e-38 4.8735e-38 0.00361 1 0 LCE3D 84648 broad.mit.edu 37 1 152552337 152552337 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:152552337G>T uc001fab.2 - 2 133 c.76C>A c.(76-78)CCA>ACA p.P26T NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 26 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) CACTGTACTGGGCTCTTTGGG 0.632 NA 23 95 2.89027e-11 4.70013e-11 0.002299 1 0 FCRL5 83416 broad.mit.edu 37 1 157497526 157497526 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:157497526G>T uc001fqu.2 - 9 1999 c.1841C>A c.(1840-1842)TCT>TAT p.S614Y FCRL5_uc009wsm.2_Missense_Mutation_p.S614Y|FCRL5_uc010phv.1_Missense_Mutation_p.S614Y|FCRL5_uc010phw.1_Missense_Mutation_p.S529Y NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 614 Extracellular (Potential).|Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TTCTCCTCCAGAGGGGGCTGA 0.552 NA 30 103 1.08312e-15 2.01572e-15 0.009535 1 0 FCRL3 115352 broad.mit.edu 37 1 157665243 157665243 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:157665243G>T uc001frb.2 - 8 1579 c.1287C>A c.(1285-1287)GCC>GCA p.A429A FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.A429A|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.A155A|FCRL3_uc001frc.1_Silent_p.A429A NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 429 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CTCCAGAGGGGGCTGAGCTGT 0.577 NA 28 134 3.73808e-20 7.37893e-20 0.005443 1 0 CD5L 922 broad.mit.edu 37 1 157809178 157809178 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:157809178G>T uc001frk.3 - 2 194 c.51C>A c.(49-51)TTC>TTA p.F17L NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 17 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) TCTTACCTAGGAATCCAGGTC 0.443 NA 11 67 7.03913e-09 1.06838e-08 0.001368 1 0 OR10K2 391107 broad.mit.edu 37 1 158390349 158390349 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:158390349G>T uc010pii.1 - 1 308 c.308C>A c.(307-309)TCC>TAC p.S103Y NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GAAGAGGAAGGAAAACATTTG 0.483 NA 32 125 1.45844e-13 2.5411e-13 0.002836 1 0 OR6N2 81442 broad.mit.edu 37 1 158746645 158746645 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:158746645G>T uc010pir.1 - 1 781 c.781C>A c.(781-783)CGG>AGG p.R261R NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TTCTTTAGCCGCACATACATG 0.433 NA 18 72 8.28177e-16 1.55397e-15 0.007413 1 0 CASQ1 844 broad.mit.edu 37 1 160162662 160162662 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:160162662T>A uc010pja.1 + 2 607 c.350T>A c.(349-351)GTG>GAG p.V117E NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 117 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GATGCAGCTGTGGCCAAGAAA 0.552 NA OREG0013927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 92 0 0 0.00333 0 0 F5 2153 broad.mit.edu 37 1 169524505 169524505 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:169524505G>A uc001ggg.1 - 7 1178 c.1033C>T c.(1033-1035)CGG>TGG p.R345W F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 345 cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTCATGTGCCGCCTCTGCTCA 0.448 NA 13 105 0 0 0.001855 0 0 BAT2L2 23215 broad.mit.edu 37 1 171510839 171510839 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:171510839G>T uc010pmg.1 + 16 4494 c.4228G>T c.(4228-4230)GAG>TAG p.E1410* BAT2L2_uc010pmh.1_Nonsense_Mutation_p.E387* NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1410 Arg-rich. protein C-terminus binding 0 TCCAAAATTTGAGCGAAAATT 0.493 NA 7 26 1.12685e-05 1.46598e-05 0.004482 1 0 ABL2 27 broad.mit.edu 37 1 179079530 179079530 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:179079530C>A uc001gmj.3 - 11 1999 c.1712G>T c.(1711-1713)CGG>CTG p.R571L ABL2_uc010pnf.1_Missense_Mutation_p.R571L|ABL2_uc010png.1_Missense_Mutation_p.R550L|ABL2_uc010pnh.1_Missense_Mutation_p.R550L|ABL2_uc001gmg.3_Missense_Mutation_p.R556L|ABL2_uc001gmi.3_Missense_Mutation_p.R556L|ABL2_uc001gmh.3_Missense_Mutation_p.R535L|ABL2_uc010pne.1_Missense_Mutation_p.R535L NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 571 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TATAGGTAGCCGGGGCAGGTA 0.498 NA T ETV6 AML 31 96 5.77227e-19 1.12002e-18 0.008361 1 0 ACBD6 84320 broad.mit.edu 37 1 180257516 180257516 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:180257516G>A uc001gog.2 - 8 1452 c.831C>T c.(829-831)CAC>CAT p.H277H NM_032360 NP_115736 Q9BR61 ACBD6_HUMAN acyl-coenzyme A binding domain containing 6 277 cytoplasm|nucleus fatty-acyl-CoA binding ovary(1) 1 TGCCAGTTGTGTGCCGCTGCA 0.473 NA 9 45 0 0 0.008291 0 0 IER5 51278 broad.mit.edu 37 1 181058374 181058374 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:181058374G>T uc001got.3 + 1 737 c.336G>T c.(334-336)CGG>CGT p.R112R NM_016545 NP_057629 Q5VY09 IER5_HUMAN immediate early response 5 112 pancreas(1) 1 ACGCGCCGCGGGTAGGGGACG 0.587 NA 4 8 0.000157383 0.000188254 0.00308 1 0 RGS8 85397 broad.mit.edu 37 1 182615976 182615976 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:182615976G>T uc010pnw.1 - 7 695 c.437C>A c.(436-438)GCC>GAC p.A146D RGS8_uc001gpn.1_Missense_Mutation_p.A146D|RGS8_uc001gpm.1_Missense_Mutation_p.A164D NM_001102450 NP_001095920 P57771 RGS8_HUMAN regulator of G-protein signalling 8 isoform 2 146 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1) 1 TTTTCCTTGGGCTTGGTCAAA 0.502 Ovarian(189;1262 3804 41973) NA 32 135 1.06801e-11 1.77915e-11 0.009535 1 0 GLT25D2 23127 broad.mit.edu 37 1 183933123 183933123 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:183933123G>T uc001gqr.2 - 6 1236 c.864C>A c.(862-864)CAC>CAA p.H288Q GLT25D2_uc010poj.1_Missense_Mutation_p.H288Q|GLT25D2_uc001gqq.2_Missense_Mutation_p.H25Q|GLT25D2_uc001gqs.2_Missense_Mutation_p.H168Q NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 288 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 GGTAGCCATAGTGCTCTCTGT 0.512 Esophageal Squamous(10;42 606 18489 38825) NA 9 38 3.09899e-07 4.38221e-07 0.004482 1 0 CFHR1 3078 broad.mit.edu 37 1 196801077 196801077 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:196801077G>T uc001gtn.2 + 6 1055 c.941G>T c.(940-942)CGA>CTA p.R314L CFHR1_uc001gtm.2_Missense_Mutation_p.R218L NM_002113 NP_002104 Q03591 FHR1_HUMAN complement factor H-related 1 precursor 314 Sushi 5. complement activation extracellular space 0 CACACATTGCGAACAACATGT 0.383 NA 17 57 8.24728e-16 1.55397e-15 0.004656 1 0 F13B 2165 broad.mit.edu 37 1 197032028 197032028 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:197032028G>A uc001gtt.1 - 2 268 c.224C>T c.(223-225)ACG>ATG p.T75M NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 75 Sushi 1. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TGTTGTACACGTGGTTTGCTC 0.373 NA 14 182 0 0 0.003163 0 0 KIF14 9928 broad.mit.edu 37 1 200559401 200559401 + Splice_Site SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:200559401C>T uc010ppk.1 - 17 3253 c.2814_splice c.e17-1 p.Q938_splice KIF14_uc010ppj.1_Splice_Site_p.Q447_splice NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TGCTTCAAGTCTACAATGTAG 0.338 NA 5 150 0 0 0.001168 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025516 203025516 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:203025516G>T uc001gyz.2 + 5 1195 c.602G>T c.(601-603)CGG>CTG p.R201L PPFIA4_uc009xaj.2_Missense_Mutation_p.R832L|PPFIA4_uc010pqf.1_Missense_Mutation_p.R414L|PPFIA4_uc001gza.2_Missense_Mutation_p.R201L|PPFIA4_uc001gzb.1_5'Flank NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 201 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 CCAGTGTCTCGGGAAGAGAAC 0.592 NA 10 39 5.16669e-11 8.34243e-11 0.000978 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204230557 204230557 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:204230557C>A uc001hau.2 - 7 718 c.401G>T c.(400-402)CGC>CTC p.R134L NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 134 PH. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GAAGTAGGTGCGGACCCCGGC 0.637 NA 14 33 6.72482e-11 1.08072e-10 0.003163 1 0 CR2 1380 broad.mit.edu 37 1 207647210 207647210 + Silent SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:207647210T>C uc001hfw.2 + 11 2137 c.2043T>C c.(2041-2043)GTT>GTC p.V681V CR2_uc001hfv.2_Silent_p.V740V|CR2_uc009xch.2_Silent_p.V681V NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 681 Sushi 11.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TGGAGCTAGTTAATACGTCCT 0.428 NA 19 65 0 0 0.007413 0 0 C1orf107 27042 broad.mit.edu 37 1 210004186 210004186 + Silent SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:210004186A>G uc001hhr.1 + 3 262 c.186A>G c.(184-186)TCA>TCG p.S62S C1orf107_uc009xcu.1_5'UTR NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 62 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) AAAGCGACTCAGAGAGTGAAC 0.284 NA 16 55 0 0 0.006122 0 0 Unknown 0 broad.mit.edu 37 1 211380632 211380632 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:211380632G>C uc001hid.2 + 1 244 c.52G>C c.(52-54)GTG>CTG p.V18L SubName: Full=Px19-like protein, isoform CRA_c; SubName: Full=cDNA, FLJ92457, Homo sapiens px19-like protein (PX19), mRNA; NA CTGGGACCAAGTGTTCGCCGC 0.617 NA 7 21 0 0 0.004482 0 0 CENPF 1063 broad.mit.edu 37 1 214818608 214818608 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:214818608G>C uc001hkm.2 + 13 5869 c.5695G>C c.(5695-5697)GAT>CAT p.D1899H NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1995 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GAGATTTCTTGATGTGGAAAA 0.428 Colon(80;575 1284 11000 14801 43496) NA 17 66 0 0 0.006122 0 0 USH2A 7399 broad.mit.edu 37 1 215972262 215972262 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:215972262G>T uc001hku.1 - 50 10332 c.9945C>A c.(9943-9945)TAC>TAA p.Y3315* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3315 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) GAAGGCGATTGTACACCACTC 0.483 NA HNSCC(13;0.011) 15 67 7.93312e-07 1.09461e-06 0.00245 1 0 USH2A 7399 broad.mit.edu 37 1 216465670 216465670 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:216465670G>T uc001hku.1 - 10 2074 c.1687C>A c.(1687-1689)CAA>AAA p.Q563K USH2A_uc001hkv.2_Missense_Mutation_p.Q563K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 563 Laminin EGF-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) TGATCACCTTGGCGGAAAGGC 0.368 NA HNSCC(13;0.011) 16 56 8.60227e-14 1.53004e-13 0.004007 1 0 PGBD5 79605 broad.mit.edu 37 1 230492930 230492930 + Nonsense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:230492930C>A uc010pwb.1 - 2 262 c.262G>T c.(262-264)GGA>TGA p.G88* PGBD5_uc001htv.2_Nonsense_Mutation_p.G187* NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 88 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) ACCCAGGCTCCGTCGCTCCCA 0.567 NA 11 50 0.00010058 0.000121802 0.001368 1 0 RYR2 6262 broad.mit.edu 37 1 237923132 237923132 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:237923132C>T uc001hyl.1 + 83 11502 c.11382C>T c.(11380-11382)GCC>GCT p.A3794A RYR2_uc010pya.1_Silent_p.A209A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3794 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGAGCCTGGCCGGCCTGATGC 0.433 NA 18 71 0 0 0.001882 0 0 FMN2 56776 broad.mit.edu 37 1 240256625 240256625 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:240256625C>G uc010pyd.1 + 1 1441 c.1216C>G c.(1216-1218)CGC>GGC p.R406G FMN2_uc010pye.1_Missense_Mutation_p.R406G NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 406 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) GCCTAGCCAGCGCTGTTTCAA 0.692 NA 13 56 0 0 0.001855 0 0 KMO 8564 broad.mit.edu 37 1 241752098 241752098 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:241752098C>A uc009xgp.2 + 12 1129 c.1064C>A c.(1063-1065)GCG>GAG p.A355E KMO_uc001hyy.2_Missense_Mutation_p.A355E|KMO_uc009xgo.1_Missense_Mutation_p.A355E NM_003679 NP_003670 O15229 KMO_HUMAN kynurenine 3-monooxygenase 355 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity ovary(2) 2 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GATGATCACGCGATTTCAGAC 0.363 NA 11 40 0.000219431 0.000259743 0.00245 1 0 WDR64 128025 broad.mit.edu 37 1 241886722 241886722 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:241886722G>T uc001hze.1 + 9 1355 c.1148G>T c.(1147-1149)AGC>ATC p.S383I WDR64_uc001hzf.1_Missense_Mutation_p.S103I B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; 383 WD 4. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CATGTCGTCAGCCTTTCCTCT 0.393 NA 13 40 1.41608e-15 2.62821e-15 0.001855 1 0 CNST 163882 broad.mit.edu 37 1 246823556 246823556 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:246823556G>C uc001ibp.2 + 10 2270 c.1892G>C c.(1891-1893)GGA>GCA p.G631A NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 631 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 GATACTGTAGGAGATCATCCT 0.403 NA 31 106 0 0 0.002096 0 0 NLRP3 114548 broad.mit.edu 37 1 247587867 247587867 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:247587867C>A uc001icr.2 + 5 1260 c.1122C>A c.(1120-1122)TCC>TCA p.S374S NLRP3_uc001ics.2_Silent_p.S374S|NLRP3_uc001icu.2_Silent_p.S374S|NLRP3_uc001icw.2_Silent_p.S374S|NLRP3_uc001icv.2_Silent_p.S374S|NLRP3_uc010pyw.1_Silent_p.S372S|NLRP3_uc001ict.1_Silent_p.S372S NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 374 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGGGTTTCTCCGAGGCCAAAA 0.552 NA 21 61 4.96729e-08 7.26479e-08 0.008871 1 0 FAM171A1 221061 broad.mit.edu 37 10 15255469 15255469 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:15255469C>A uc001iob.2 - 8 2125 c.2118G>T c.(2116-2118)CGG>CGT p.R706R NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 706 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 CGAACCACGCCCGGGGGTGCG 0.557 NA 24 66 3.08376e-08 4.5589e-08 0.00333 1 0 SLC39A12 221074 broad.mit.edu 37 10 18266980 18266980 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:18266980G>T uc001ipo.2 + 5 1174 c.901G>T c.(901-903)GAT>TAT p.D301Y SLC39A12_uc001ipn.2_Missense_Mutation_p.D301Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.D301Y|SLC39A12_uc010qck.1_Missense_Mutation_p.D167Y NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 301 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AGAGTCTGAGGATGGTCCAGT 0.368 NA 18 54 1.99824e-07 2.83741e-07 0.00499 1 0 PLXDC2 84898 broad.mit.edu 37 10 20465966 20465966 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:20465966G>T uc001iqg.1 + 8 1559 c.922G>T c.(922-924)GAG>TAG p.E308* PLXDC2_uc001iqh.1_Nonsense_Mutation_p.E259*|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 308 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 CCACCGAGTAGAGCTACAAAT 0.343 NA 9 107 0.000978159 0.00113619 0.000978 1 0 MYO3A 53904 broad.mit.edu 37 10 26455006 26455006 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:26455006C>A uc001isn.2 + 27 3370 c.3010C>A c.(3010-3012)CTC>ATC p.L1004I MYO3A_uc009xko.1_Missense_Mutation_p.L1004I|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1004 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GTACTACCTTCTCTGCTACAA 0.493 NA 11 233 0.000151284 0.000182557 0.001855 1 0 GAD2 2572 broad.mit.edu 37 10 26581395 26581395 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:26581395G>A uc001isp.2 + 14 1891 c.1388G>A c.(1387-1389)GGG>GAG p.G463E GAD2_uc001isq.2_Missense_Mutation_p.G463E NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 463 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CTTACCTAGGGGACTACCGGG 0.463 NA 7 74 0 0 0.004482 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37490239 37490239 + Missense_Mutation SNP G G A rs137903346 by1000genomes TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:37490239G>A uc001iza.1 + 31 2786 c.2687G>A c.(2686-2688)AGT>AAT p.S896N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 952 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GATAAAATAAGTGGAAAATTA 0.328 NA 10 37 0 0 0.000978 0 0 DNAJC12 56521 broad.mit.edu 37 10 69571290 69571290 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:69571290C>A uc001jnb.2 - 3 457 c.289G>T c.(289-291)GTG>TTG p.V97L DNAJC12_uc001jnc.2_Missense_Mutation_p.V97L NM_021800 NP_068572 Q9UKB3 DJC12_HUMAN J domain containing protein 1 isoform a 97 protein folding heat shock protein binding|unfolded protein binding breast(1) 1 ACCGTCTTCACTGAGTCATTC 0.507 NA 45 101 1.23103e-26 2.57123e-26 0.003214 1 0 MAT1A 4143 broad.mit.edu 37 10 82036222 82036222 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:82036222G>T uc001kbw.2 - 6 933 c.678C>A c.(676-678)GTC>GTA p.V226V NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 226 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CGGCCCTGATGACTTGCTCCT 0.607 NA 21 78 4.96729e-08 7.26479e-08 0.008871 1 0 TLL2 7093 broad.mit.edu 37 10 98129868 98129868 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:98129868C>A uc001kml.1 - 20 3093 c.2867G>T c.(2866-2868)GGC>GTC p.G956V NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 956 CUB 5. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GCTGTCGTAGCCGTCGTAGGC 0.582 NA 9 40 2.17888e-05 2.75588e-05 0.006214 1 0 ABCC2 1244 broad.mit.edu 37 10 101595910 101595910 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:101595910C>A uc001kqf.2 + 25 3616 c.3477C>A c.(3475-3477)ATC>ATA p.I1159I NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 1159 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGTCCCCAATCTACTCTCACT 0.507 NA 8 78 0.000157383 0.000188254 0.00308 1 0 SORCS3 22986 broad.mit.edu 37 10 106675691 106675691 + Splice_Site SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:106675691G>A uc001kyi.1 + 3 1022 c.795_splice c.e3+1 p.K265_splice NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAAAAGGAAGGTAAGAGACTG 0.448 NSCLC(116;1497 1690 7108 13108 14106) NA 8 50 0 0 0.004482 0 0 SORCS1 114815 broad.mit.edu 37 10 108412220 108412220 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:108412220C>T uc001kym.2 - 18 2403 c.2395G>A c.(2395-2397)GGG>AGG p.G799R SORCS1_uc001kyl.2_Missense_Mutation_p.G799R|SORCS1_uc009xxs.2_Missense_Mutation_p.G799R|SORCS1_uc001kyn.1_Missense_Mutation_p.G799R|SORCS1_uc001kyo.2_Missense_Mutation_p.G799R NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 799 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ATCCGCAGCCCCCGCGGGGCT 0.522 NA 17 67 0 0 0.00499 0 0 SHOC2 8036 broad.mit.edu 37 10 112745436 112745436 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:112745436C>T uc001kzl.3 + 3 1103 c.754C>T c.(754-756)CAC>TAC p.H252Y SHOC2_uc009xxx.2_Missense_Mutation_p.H252Y|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Intron NM_007373 NP_031399 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog 252 LRR 7. fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity ovary(1)|skin(1) 2 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) TCAACTTGAACACCTTCCAAA 0.378 NA 6 70 0 0 0.001984 0 0 GFRA1 2674 broad.mit.edu 37 10 117884798 117884798 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:117884798T>C uc001lcj.2 - 6 1402 c.704A>G c.(703-705)TAT>TGT p.Y235C GFRA1_uc001lci.2_Missense_Mutation_p.Y230C|GFRA1_uc009xyr.2_Missense_Mutation_p.Y230C NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 235 2. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) CCTCTCTTCATAGGAGCACAC 0.557 Ovarian(128;329 1725 45498 46808 50759) NA 7 48 0 0 0.006214 0 0 GPR26 2849 broad.mit.edu 37 10 125426472 125426472 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:125426472C>A uc001lhh.2 + 1 602 c.549C>A c.(547-549)CTC>CTA p.L183L NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 183 Helical; Name=5; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) GCTTCCTGCTCTCCTTCGTCG 0.642 NA 3 20 0.00024832 0.000291915 0.009096 1 0 ECHS1 1892 broad.mit.edu 37 10 135184202 135184202 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr10:135184202T>A uc001lmu.2 - 2 219 c.148A>T c.(148-150)ATC>TTC p.I50F NM_004092 NP_004083 P30084 ECHM_HUMAN mitochondrial short-chain enoyl-coenzyme A 50 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) TTCAGTTGGATCAACCCCACG 0.532 GBM(132;1720 1771 5373 10277 21402) NA 10 28 0 0 0.008291 0 0 OR52K2 119774 broad.mit.edu 37 11 4471034 4471034 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:4471034G>T uc001lyz.1 + 1 465 c.465G>T c.(463-465)GTG>GTT p.V155V NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCGGGCTGTGACACTAATGA 0.567 NA 39 63 1.66425e-11 2.74561e-11 0.004878 1 0 OR51E2 81285 broad.mit.edu 37 11 4703209 4703209 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:4703209C>T uc001lzk.2 - 2 977 c.733G>A c.(733-735)GGT>AGT p.G245S NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AGTACCACACCAATGTGTGAC 0.498 NA 21 49 0 0 0.002299 0 0 HBD 3045 broad.mit.edu 37 11 5255616 5255616 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:5255616C>A uc001maf.1 - 1 243 c.48G>T c.(46-48)TGG>TGT p.W16C NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 16 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCACTTTGCCCCACAGGGCAT 0.502 NA 28 38 2.47511e-08 3.66702e-08 0.008361 1 0 NLRP14 338323 broad.mit.edu 37 11 7070936 7070936 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:7070936G>A uc001mfb.1 + 6 2481 c.2158G>A c.(2158-2160)GAT>AAT p.D720N NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 720 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGGTTGTCAGGATATCTCTAC 0.378 NA 38 85 0 0 0.004878 0 0 QSER1 79832 broad.mit.edu 37 11 32953390 32953390 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:32953390T>A uc001mty.2 + 4 466 c.199T>A c.(199-201)TTC>ATC p.F67I QSER1_uc001mtz.1_Missense_Mutation_p.F67I|QSER1_uc001mua.2_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 67 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TCCCACCACCTTCAGCAATAG 0.443 NA 42 62 0 0 0.002852 0 0 CD44 960 broad.mit.edu 37 11 35223312 35223312 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:35223312G>A uc001mvu.2 + 9 1565 c.1131G>A c.(1129-1131)GAG>GAA p.E377E CD44_uc001mvv.2_Silent_p.E334E|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 377 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AGGAAGAAGAGACCCCACATT 0.458 NA 21 38 0 0 0.008871 0 0 TTC17 55761 broad.mit.edu 37 11 43465675 43465675 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:43465675G>C uc001mxi.2 + 18 2595 c.2581G>C c.(2581-2583)GAA>CAA p.E861Q TTC17_uc001mxh.2_Missense_Mutation_p.E918Q|TTC17_uc010rfj.1_Missense_Mutation_p.E861Q|TTC17_uc001mxj.2_Missense_Mutation_p.E688Q NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 861 binding ovary(5) 5 GAAAAAAGTAGAAACAGGTCA 0.418 NA 15 29 0 0 0.003163 0 0 ZNF408 79797 broad.mit.edu 37 11 46727337 46727337 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:46727337C>A uc001nde.1 + 5 2317 c.2087C>A c.(2086-2088)CCC>CAC p.P696H ZNF408_uc010rgw.1_Missense_Mutation_p.P688H NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 696 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 GATGCCGCCCCCAGCCTGGTG 0.592 Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525) NA 6 9 8.12818e-05 9.89581e-05 0.001984 1 0 OR4A15 81328 broad.mit.edu 37 11 55135827 55135827 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:55135827G>T uc010rif.1 + 1 468 c.468G>T c.(466-468)AAG>AAT p.K156N NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 156 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCATCTGTAAGCCTCTTCATG 0.433 NA 73 134 2.23852e-25 4.60516e-25 0.00361 1 0 GLYAT 10249 broad.mit.edu 37 11 58482866 58482866 + Nonsense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:58482866C>A uc001nnb.2 - 3 267 c.112G>T c.(112-114)GGA>TGA p.G38* GLYAT_uc001nnc.2_Nonsense_Mutation_p.G38* NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 38 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) AATGGATTTCCATGGTTTATG 0.398 NA 16 48 3.45872e-05 4.3345e-05 0.004007 1 0 OR10V1 390201 broad.mit.edu 37 11 59481200 59481200 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:59481200C>A uc001nof.1 - 1 119 c.119G>T c.(118-120)GGT>GTT p.G40V NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCATTTCCACCGAGGCTGGT 0.443 NA 16 24 9.16793e-09 1.38533e-08 0.00499 1 0 INCENP 3619 broad.mit.edu 37 11 61897761 61897761 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:61897761G>T uc001nsw.1 + 4 964 c.762G>T c.(760-762)GCG>GCT p.A254A INCENP_uc009ynv.2_Silent_p.A254A|INCENP_uc009ynw.1_Silent_p.A254A|INCENP_uc001nsx.1_Silent_p.A254A NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 254 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 GGCGGTCTGCGTCTAAGCTCA 0.647 NA 26 39 3.6726e-16 6.94844e-16 0.003954 1 0 AHNAK 79026 broad.mit.edu 37 11 62299271 62299271 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:62299271C>A uc001ntl.2 - 5 2918 c.2618G>T c.(2617-2619)TGG>TTG p.W873L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 873 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTTCAGGTGCCAGTCTGGGCC 0.483 NA 122 262 7.54917e-67 1.64206e-66 0.00361 1 0 MAP4K2 5871 broad.mit.edu 37 11 64564575 64564575 + Splice_Site SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:64564575C>T uc001obh.2 - 19 1457 c.1365_splice c.e19+1 p.E455_splice MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Splice_Site_p.E447_splice NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 CACCCTCTTACCTCAGGATCC 0.652 NA 13 31 0 0 0.001855 0 0 CST6 1474 broad.mit.edu 37 11 65780862 65780862 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:65780862G>T uc001ogr.2 + 3 495 c.441G>T c.(439-441)GTG>GTT p.V147V CST6_uc001ogs.1_3'UTR NM_001323 NP_001314 Q15828 CYTM_HUMAN cystatin M precursor 147 anatomical structure morphogenesis extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 ACAACTGTGTGCAGATGTGAT 0.562 NA 29 61 1.75199e-13 3.03707e-13 0.007291 1 0 INTS4 92105 broad.mit.edu 37 11 77639510 77639510 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:77639510C>G uc001oys.2 - 11 1277 c.1249G>C c.(1249-1251)GTT>CTT p.V417L INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.V417L NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 417 HEAT 7. snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) AACATGTCAACTAGGAAATCA 0.438 NA 10 21 0 0 0.008291 0 0 GRM5 2915 broad.mit.edu 37 11 88780894 88780894 + Silent SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:88780894C>G uc001pcq.2 - 1 347 c.147G>C c.(145-147)GTG>GTC p.V49V GRM5_uc009yvm.2_Silent_p.V49V|GRM5_uc009yvn.1_Silent_p.V49V NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 49 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GAACTTTGTCCACAGTAGGCT 0.532 NA 6 39 0 0 0.001168 0 0 FAT3 120114 broad.mit.edu 37 11 92531099 92531099 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:92531099C>T uc001pdj.3 + 9 4937 c.4920C>T c.(4918-4920)TCC>TCT p.S1640S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1640 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTGTCCTATCCATCAAAGTCA 0.478 NA TCGA Ovarian(4;0.039) 19 51 0 0 0.007413 0 0 DDI1 414301 broad.mit.edu 37 11 103908369 103908369 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:103908369C>A uc001phr.2 + 1 1062 c.819C>A c.(817-819)GCC>GCA p.A273A PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 273 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) AGGCTTGTGCCGAGCGATGTA 0.517 NA 32 69 1.45844e-13 2.5411e-13 0.002836 1 0 APOA5 116519 broad.mit.edu 37 11 116661395 116661395 + Missense_Mutation SNP T T G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:116661395T>G uc001ppr.2 - 3 558 c.550A>C c.(550-552)ACC>CCC p.T184P ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.T184P|APOA5_uc009yzf.2_Missense_Mutation_p.T184P|APOA5_uc009yzg.2_Missense_Mutation_p.T210P NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 184 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) AAGCGGCCGGTGTGGTGCACC 0.682 NA 10 37 0 0 0.006214 0 0 OR10G8 219869 broad.mit.edu 37 11 123900680 123900680 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:123900680G>T uc001pzp.1 + 1 351 c.351G>T c.(349-351)ATG>ATT p.M117I NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACAGGGTCATGTCCTGTGATC 0.557 NA 57 85 1.46156e-29 3.081e-29 0.00361 1 0 OR8G2 26492 broad.mit.edu 37 11 124095657 124095657 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:124095657C>A uc010saf.1 + 1 260 c.260C>A c.(259-261)TCC>TAC p.S87Y NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 87 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) ATCTGCCATTCCACTATCATT 0.443 NA 57 89 9.72345e-25 1.98836e-24 0.00361 1 0 PANX3 116337 broad.mit.edu 37 11 124487256 124487256 + Missense_Mutation SNP C C A rs144166888 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:124487256C>A uc001qah.2 + 3 411 c.411C>A c.(409-411)AGC>AGA p.S137R NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 137 Cytoplasmic (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CAGCCCTCAGCTCCGATCTGC 0.597 NA 23 25 1.10513e-12 1.88231e-12 0.002299 1 0 KCNJ5 3762 broad.mit.edu 37 11 128781592 128781592 + Missense_Mutation SNP T T G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:128781592T>G uc001qet.2 + 2 738 c.424T>G c.(424-426)TTC>GTC p.F142V KCNJ5_uc009zck.2_Missense_Mutation_p.F142V|KCNJ5_uc001qew.2_Missense_Mutation_p.F142V NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 142 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CGCTTTCCTGTTCTCCATTGA 0.522 Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231) NA 50 85 0 0 0.00361 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839708 128839708 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr11:128839708C>A uc009zcp.2 - 22 5358 c.5358G>T c.(5356-5358)GGG>GGT p.G1786G ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.G745G|ARHGAP32_uc001qez.2_Silent_p.G1437G NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1786 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 TGACATAGATCCCACCCAAGT 0.547 NA 39 63 7.53189e-24 1.52198e-23 0.007835 1 0 CACNA1C 775 broad.mit.edu 37 12 2742805 2742805 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:2742805G>T uc009zdu.1 + 31 4212 c.3899G>T c.(3898-3900)AGT>ATT p.S1300I CACNA1C_uc009zdv.1_Missense_Mutation_p.S1277I|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1300I|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qks.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qki.1_Missense_Mutation_p.S1016I|CACNA1C_uc001qkj.1_Missense_Mutation_p.S1016I|CACNA1C_uc001qkk.1_Missense_Mutation_p.S1016I|CACNA1C_uc001qkm.1_Intron NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1300 Cytoplasmic (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGTTACTTTAGTGATCCCTGG 0.443 NA 9 65 0.00448238 0.00499424 0.004482 1 0 CACNA1C 775 broad.mit.edu 37 12 2763057 2763057 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:2763057C>A uc009zdu.1 + 35 4588 c.4275C>A c.(4273-4275)ATC>ATA p.I1425I CACNA1C_uc009zdv.1_Silent_p.I1374I|CACNA1C_uc001qkb.2_Silent_p.I1377I|CACNA1C_uc001qkc.2_Silent_p.I1377I|CACNA1C_uc001qke.2_Silent_p.I1366I|CACNA1C_uc001qkf.2_Silent_p.I1366I|CACNA1C_uc001qjz.2_Silent_p.I1377I|CACNA1C_uc001qkd.2_Silent_p.I1377I|CACNA1C_uc001qkg.2_Silent_p.I1364I|CACNA1C_uc009zdw.1_Silent_p.I1399I|CACNA1C_uc001qkh.2_Silent_p.I1366I|CACNA1C_uc001qkl.2_Silent_p.I1425I|CACNA1C_uc001qkn.2_Silent_p.I1377I|CACNA1C_uc001qko.2_Silent_p.I1397I|CACNA1C_uc001qkp.2_Silent_p.I1377I|CACNA1C_uc001qkr.2_Silent_p.I1394I|CACNA1C_uc001qku.2_Silent_p.I1377I|CACNA1C_uc001qkq.2_Silent_p.I1405I|CACNA1C_uc001qks.2_Silent_p.I1377I|CACNA1C_uc001qkt.2_Silent_p.I1377I|CACNA1C_uc001qki.1_Silent_p.I1113I|CACNA1C_uc001qkj.1_Silent_p.I1113I|CACNA1C_uc001qkk.1_Silent_p.I1113I|CACNA1C_uc001qkm.1_Silent_p.I1102I|CACNA1C_uc010sea.1_Silent_p.I68I NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1425 Helical; Name=S5 of repeat IV; (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACGCGGTGATCGGGATGCAGG 0.627 NA 6 23 8.12818e-05 9.89581e-05 0.001984 1 0 NTF3 4908 broad.mit.edu 37 12 5603480 5603480 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:5603480C>A uc001qnl.3 + 1 183 c.100C>A c.(100-102)CTC>ATC p.L34I NTF3_uc001qnk.3_Missense_Mutation_p.L47I NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 34 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 GCTCAATTCCCTCATTATTAA 0.433 GBM(194;1104 2182 8339 9578 18493) NA 15 78 2.31682e-05 2.91954e-05 0.003163 1 0 COPS7A 50813 broad.mit.edu 37 12 6839882 6839882 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:6839882C>T uc001qqj.2 + 7 923 c.684C>T c.(682-684)GCC>GCT p.A228A COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Intron|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Silent_p.A228A|COPS7A_uc001qqi.2_Silent_p.A228A|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Silent_p.A228A|COPS7A_uc001qqo.2_Silent_p.A228A NM_001164094 NP_001157566 Q9UBW8 CSN7A_HUMAN COP9 complex subunit 7a 228 Potential. cullin deneddylation cytoplasm|signalosome ovary(1) 1 CAGCAGCAGCCGCAGCCACAT 0.547 NA 10 35 0 0 0.008291 0 0 TAS2R10 50839 broad.mit.edu 37 12 10978098 10978098 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:10978098C>A uc001qyy.1 - 1 771 c.771G>T c.(769-771)CTG>CTT p.L257L NM_023921 NP_076410 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 257 Extracellular (Potential). sensory perception of taste integral to membrane taste receptor activity 0 ACATAAGCAGCAGTTTGTTTT 0.383 NA 15 97 0.000219431 0.000259743 0.00245 1 0 H3F3C 440093 broad.mit.edu 37 12 31944778 31944778 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:31944778T>A uc001rkr.2 - 1 398 c.323A>T c.(322-324)AAC>ATC p.N108I NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN histone H3-like 108 nucleosome assembly nucleosome|nucleus DNA binding 0 GGCACACAGGTTAGTATCTTC 0.552 NA HNSCC(67;0.2) 28 85 0 0 0.00632 0 0 WNT1 7471 broad.mit.edu 37 12 49373341 49373341 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:49373341C>A uc001rsu.2 + 2 393 c.195C>A c.(193-195)AGC>AGA p.S65R NM_005430 NP_005421 P04628 WNT1_HUMAN wingless-type MMTV integration site family, 65 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding kidney(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.244) AGCTGTTGAGCCGCAAACAGC 0.602 NA 11 74 0.00829132 0.00914858 0.008291 1 0 MLL2 8085 broad.mit.edu 37 12 49433751 49433751 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:49433751G>A uc001rta.3 - 31 7802 c.7802C>T c.(7801-7803)ACA>ATA p.T2601I NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2601 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCTCTCCCCTGTGGACCCGCT 0.662 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 7 13 0 0 0.004482 0 0 TUBA1A 7846 broad.mit.edu 37 12 49580492 49580492 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:49580492C>A uc009zlf.2 - 2 400 c.128G>T c.(127-129)GGG>GTG p.G43V TUBA1B_uc001rto.2_Missense_Mutation_p.G8V|TUBA1A_uc001rtp.2_Missense_Mutation_p.G43V|TUBA1A_uc001rtq.2_5'UTR|TUBA1A_uc001rtr.2_5'UTR|TUBA1A_uc009zlg.2_Intron NM_006009 NP_006000 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 43 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity 0 ATCTCCTCCCCCAATGGTCTT 0.577 Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451) NA 21 84 3.5997e-14 6.453e-14 0.002299 1 0 KRT6B 3854 broad.mit.edu 37 12 52843597 52843597 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:52843597G>C uc001sak.2 - 4 905 c.857C>G c.(856-858)GCC>GGC p.A286G NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 286 Coil 1B.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) GTCTGCCTTGGCTTGCAGTTC 0.488 NA 12 99 0 0 0.001368 0 0 KRT73 319101 broad.mit.edu 37 12 53007601 53007601 + Silent SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:53007601C>G uc001sas.2 - 5 890 c.855G>C c.(853-855)ACG>ACC p.T285T NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 285 Rod.|Linker 12. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) GGATGATGGACGTGTCGCTGA 0.557 NA 18 90 0 0 0.008871 0 0 KRT77 374454 broad.mit.edu 37 12 53091651 53091651 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:53091651C>A uc001saw.2 - 2 602 c.573G>T c.(571-573)GTG>GTT p.V191V KRT77_uc009zmi.2_5'UTR NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN keratin 77 191 Coil 1A.|Rod. keratin filament structural molecule activity ovary(1) 1 TTGTTTGTAGCACCTGGTTCT 0.562 NA 24 124 4.26978e-12 7.1829e-12 0.00333 1 0 HOXC10 3226 broad.mit.edu 37 12 54379646 54379647 + Missense_Mutation DNP CC CC AA TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:54379646_54379647CC>AA uc001sen.2 + 1 701_702 c.603_604CC>AA c.(601-606)ACCCCC>ACAACC p.P202T NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 202 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 TCCCTGAGACCCCCAAGTCCGA 0.634 NA 12 54 0 0 0.004672 0 0 HOXC4 3221 broad.mit.edu 37 12 54447898 54447898 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:54447898G>T uc001seu.2 + 3 872 c.192G>T c.(190-192)GAG>GAT p.E64D HOXC4_uc001sex.2_Missense_Mutation_p.E64D NM_014620 NP_055435 P09017 HXC4_HUMAN homeobox C4 64 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCTACCCTGAGCGCCAGTATA 0.652 NA 27 116 2.14196e-07 3.03518e-07 0.007291 1 0 C12orf66 144577 broad.mit.edu 37 12 64588160 64588160 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:64588160G>C uc001srw.3 - 3 859 c.800C>G c.(799-801)GCC>GGC p.A267G C12orf66_uc009zql.2_Missense_Mutation_p.A214G NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 267 ovary(1) 1 GCTAAACTTGGCAAGAAGCAT 0.458 NA 19 78 0 0 0.010504 0 0 LGR5 8549 broad.mit.edu 37 12 71977581 71977581 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:71977581G>T uc001swl.2 + 18 1839 c.1791G>T c.(1789-1791)GGG>GGT p.G597G LGR5_uc001swm.2_Silent_p.G573G|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 597 Helical; Name=2; (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 TGTTAATTGGGGTCATCGCAG 0.502 NA 22 90 1.10513e-12 1.88231e-12 0.002299 1 0 SLC6A15 55117 broad.mit.edu 37 12 85279265 85279265 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:85279265G>T uc001szv.2 - 4 1016 c.523C>A c.(523-525)CAA>AAA p.Q175K SLC6A15_uc010sul.1_Missense_Mutation_p.Q68K|SLC6A15_uc001szy.2_Missense_Mutation_p.Q175K NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 175 Extracellular (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 GGCAGGGGTTGCTGAAAAGAC 0.363 NA 9 46 0.00829132 0.00914858 0.008291 1 0 SLC17A8 246213 broad.mit.edu 37 12 100784891 100784891 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:100784891C>A uc010svi.1 + 3 780 c.467C>A c.(466-468)GCT>GAT p.A156D SLC17A8_uc009ztx.2_Missense_Mutation_p.A156D NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 156 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 AAGTTTGCTGCTAACAGGTAA 0.388 NA 16 76 5.01169e-05 6.22361e-05 0.00499 1 0 STAB2 55576 broad.mit.edu 37 12 104056673 104056673 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:104056673C>A uc001tjw.2 + 18 2105 c.1919C>A c.(1918-1920)GCC>GAC p.A640D NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 640 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GAGATCACTGCCAAAAATGGC 0.423 NA 20 92 1.55795e-14 2.8002e-14 0.001882 1 0 STAB2 55576 broad.mit.edu 37 12 104089331 104089331 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:104089331C>A uc001tjw.2 + 32 3565 c.3379C>A c.(3379-3381)CTG>ATG p.L1127M NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1127 Extracellular (Potential).|FAS1 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TTTTCAGGTGCTGGTCCCACA 0.468 NA 6 63 3.59834e-05 4.47662e-05 0.001168 1 0 FOXN4 121643 broad.mit.edu 37 12 109724509 109724509 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:109724509T>A uc001toe.3 - 7 742 c.637A>T c.(637-639)AGC>TGC p.S213C FOXN4_uc009zvg.2_Missense_Mutation_p.S10C|FOXN4_uc001tof.3_Missense_Mutation_p.S33C NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 213 Fork-head. axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|lung(1) 2 ACAGGCAGGCTGCCTGTCTTG 0.473 NA 7 17 0 0 0.001984 0 0 NOS1 4842 broad.mit.edu 37 12 117662918 117662919 + Missense_Mutation DNP CC CC AA TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:117662918_117662919CC>AA uc001twm.1 - 25 4414_4415 c.3728_3729GG>TT c.(3727-3729)CGG>CTT p.R1243L NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1243 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTTGGGGGTTCCGGGGCAGGTG 0.545 Esophageal Squamous(162;1748 2599 51982 52956) NA 21 99 0 0 0.004672 0 0 EP400 57634 broad.mit.edu 37 12 132466659 132466659 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:132466659A>T uc001ujn.2 + 4 1600 c.1565A>T c.(1564-1566)CAG>CTG p.Q522L EP400_uc001ujl.2_Missense_Mutation_p.Q521L|EP400_uc001ujm.2_Missense_Mutation_p.Q522L|EP400_uc001ujj.1_Missense_Mutation_p.Q485L|EP400_uc001ujk.2_Missense_Mutation_p.Q558L NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 558 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCACGCCGCAGGCCGCGCAG 0.602 NA 33 184 0 0 0.003755 0 0 FREM2 341640 broad.mit.edu 37 13 39343846 39343846 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr13:39343846G>A uc001uwv.2 + 4 5851 c.5542G>A c.(5542-5544)GAG>AAG p.E1848K FREM2_uc001uww.2_5'UTR NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1848 Calx-beta 1.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGGGGAGCATGAGCAGTCTGA 0.552 NA 5 35 0 0 0.000602 0 0 NALCN 259232 broad.mit.edu 37 13 101944629 101944630 + Missense_Mutation DNP CC CC AA TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr13:101944629_101944630CC>AA uc001vox.1 - 8 1076_1077 c.887_888GG>TT c.(886-888)TGG>TTT p.W296F NALCN_uc001voy.2_Missense_Mutation_p.W11F|NALCN_uc001voz.2_Missense_Mutation_p.W296F|NALCN_uc001vpa.2_Missense_Mutation_p.W296F NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 296 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGTAGGAACGCCAACGGGGAAA 0.455 NA 13 20 0 0 0.004672 0 0 SLC10A2 6555 broad.mit.edu 37 13 103705019 103705019 + Missense_Mutation SNP C C A rs143232105 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr13:103705019C>A uc001vpy.3 - 3 1133 c.536G>T c.(535-537)GGA>GTA p.G179V NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 179 Extracellular (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AACAAACATTCCAATGGAAAC 0.388 NA 14 48 1.36491e-13 2.40267e-13 0.001855 1 0 OR11G2 390439 broad.mit.edu 37 14 20665591 20665591 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:20665591A>T uc010tlb.1 + 1 97 c.97A>T c.(97-99)AGG>TGG p.R33W NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 33 Extracellular (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;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TACAATTCACAGGCACATGAA 0.448 NA 6 22 0 0 0.001984 0 0 OR11G2 390439 broad.mit.edu 37 14 20665719 20665719 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:20665719G>T uc010tlb.1 + 1 225 c.225G>T c.(223-225)CTG>CTT p.L75L NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 75 Helical; Name=1; (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;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TTTACCTCCTGACCCTCATGG 0.562 NA 18 73 8.00594e-06 1.05561e-05 0.007413 1 0 TEP1 7011 broad.mit.edu 37 14 20849471 20849471 + Splice_Site SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:20849471C>A uc001vxe.2 - 32 4687 c.4647_splice c.e32+1 p.L1549_splice TEP1_uc010ahk.2_Splice_Site_p.L892_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.L1441_splice|TEP1_uc010tlh.1_Splice_Site NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TAGGAACTAACCAGGTGGTAA 0.557 NA 49 147 2.73381e-35 5.85326e-35 0.00361 1 0 FLJ10357 55701 broad.mit.edu 37 14 21549125 21549125 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:21549125G>T uc001vzp.2 + 13 2619 c.2590G>T c.(2590-2592)GTT>TTT p.V864F FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.V150F NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 864 Potential. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) GCTGGAGCAGGTTGAGAGTGG 0.607 NA 21 113 1.85244e-09 2.88204e-09 0.00333 1 0 TINF2 26277 broad.mit.edu 37 14 24709508 24709508 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:24709508G>A uc001woa.3 - 7 1432 c.1090C>T c.(1090-1092)CTG>TTG p.L364L TINF2_uc010alm.2_3'UTR|TINF2_uc001wob.3_3'UTR|TINF2_uc010tof.1_Silent_p.L329L|TINF2_uc001woc.3_3'UTR NM_001099274 NP_001092744 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 364 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|protein binding|telomeric DNA binding 0 GBM - Glioblastoma multiforme(265;0.0185) GATAGTCTCAGGGGGTCCATG 0.502 NA Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis 6 67 0 0 0.001984 0 0 TGM1 7051 broad.mit.edu 37 14 24724007 24724007 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:24724007C>A uc001wod.2 - 13 2075 c.1951G>T c.(1951-1953)GCC>TCC p.A651S TGM1_uc010tog.1_Missense_Mutation_p.A209S NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 651 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TCCTTGTAGGCCACTGGCATG 0.627 NA 13 40 7.03913e-09 1.06838e-08 0.001368 1 0 AKAP6 9472 broad.mit.edu 37 14 33014693 33014693 + Silent SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:33014693T>A uc001wrq.2 + 4 1004 c.834T>A c.(832-834)GCT>GCA p.A278A AKAP6_uc010aml.2_Silent_p.A275A NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 278 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) TTACGGTAGCTGCTGACTCTA 0.453 Melanoma(49;821 1200 7288 13647 42351) NA 28 84 0 0 0.009535 0 0 NPAS3 64067 broad.mit.edu 37 14 33684570 33684570 + Missense_Mutation SNP A A C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:33684570A>C uc001wru.2 + 3 387 c.323A>C c.(322-324)AAC>ACC p.N108T NPAS3_uc001wrs.2_Missense_Mutation_p.N78T|NPAS3_uc001wrt.2_Missense_Mutation_p.N78T|NPAS3_uc001wrv.2_Missense_Mutation_p.N78T|NPAS3_uc001wrw.2_Missense_Mutation_p.N6T NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GACTTTGCTAACCAGGGGGAC 0.478 NA 24 67 0 0 0.00333 0 0 BAZ1A 11177 broad.mit.edu 37 14 35243648 35243648 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:35243648G>T uc001wsk.2 - 19 3450 c.2882C>A c.(2881-2883)TCC>TAC p.S961Y BAZ1A_uc001wsl.2_Missense_Mutation_p.S929Y NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 961 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) ATATGCATTGGAAGATCTTCC 0.333 NA 16 93 5.03518e-11 8.14936e-11 0.007413 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36225998 36225998 + Splice_Site SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:36225998C>A uc001wti.2 - 7 1054 c.663_splice c.e7+1 p.Q221_splice RALGAPA1_uc001wtj.2_Splice_Site_p.Q221_splice|RALGAPA1_uc010tpv.1_Splice_Site_p.Q221_splice|RALGAPA1_uc010tpw.1_Splice_Site_p.Q221_splice|RALGAPA1_uc001wtk.1_Splice_Site_p.Q72_splice NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 ATAACAAGTACCTGAATGACT 0.373 NA 3 53 0.004672 0.00517176 0.004672 1 0 MIPOL1 145282 broad.mit.edu 37 14 37754522 37754522 + Splice_Site SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:37754522G>T uc001wuc.2 + 8 997 c.494_splice c.e8-1 p.A165_splice MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Splice_Site_p.A134_splice|MIPOL1_uc001wud.2_Splice_Site_p.A165_splice|MIPOL1_uc010ams.2_Splice_Site_p.A165_splice|MIPOL1_uc001wue.2_Splice_Site_p.A134_splice|MIPOL1_uc010amt.2_Splice_Site NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) TATTTTGGTAGCTCTGGTTGA 0.358 NA 28 98 1.39649e-27 2.92577e-27 0.002445 1 0 LRFN5 145581 broad.mit.edu 37 14 42355965 42355965 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:42355965C>A uc001wvm.2 + 3 1335 c.137C>A c.(136-138)CCA>CAA p.P46Q LRFN5_uc010ana.2_Missense_Mutation_p.P46Q NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 46 Extracellular (Potential).|LRRNT. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTATTTGTTCCACCAAACATT 0.408 NA HNSCC(30;0.082) 9 35 0.00448238 0.00499424 0.004482 1 0 SLC38A6 145389 broad.mit.edu 37 14 61451499 61451499 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:61451499G>T uc001xfg.1 + 3 404 c.288G>T c.(286-288)CTG>CTT p.L96L SLC38A6_uc001xfh.1_Silent_p.L96L|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Silent_p.L73L NM_153811 NP_722518 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 96 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TCCATCTTCTGCTTAGTATGT 0.383 NA 20 77 2.39556e-15 4.38652e-15 0.00278 1 0 BTBD7 55727 broad.mit.edu 37 14 93712551 93712551 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:93712551C>A uc001ybo.2 - 10 2529 c.2203G>T c.(2203-2205)GTA>TTA p.V735L BTBD7_uc010aur.2_Missense_Mutation_p.V260L|BTBD7_uc010two.1_Missense_Mutation_p.V555L|BTBD7_uc001ybp.2_Missense_Mutation_p.V384L NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 735 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GTACTGTTTACGCGACATCTC 0.473 NA 35 102 1.45844e-13 2.5411e-13 0.002836 1 0 KIAA1409 57578 broad.mit.edu 37 14 94089109 94089109 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:94089109G>T uc001ybv.1 + 28 5148 c.5065G>T c.(5065-5067)GCT>TCT p.A1689S KIAA1409_uc001ybs.1_Missense_Mutation_p.A1667S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1844 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GAGGAAGATTGCTGTCAGTGC 0.468 NA 10 32 1.58986e-06 2.1588e-06 0.008291 1 0 KIAA1409 57578 broad.mit.edu 37 14 94156483 94156483 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:94156483G>T uc001ybv.1 + 44 6841 c.6758G>T c.(6757-6759)TGT>TTT p.C2253F KIAA1409_uc001ybs.1_Missense_Mutation_p.C2231F NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2408 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TTCATTGAGTGTGTCTCCCAT 0.448 NA 21 61 3.62473e-10 5.73077e-10 0.001882 1 0 C14orf49 161176 broad.mit.edu 37 14 95922038 95922038 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:95922038C>A uc001yei.3 - 5 828 c.813G>T c.(811-813)AGG>AGT p.R271S C14orf49_uc010avi.2_Missense_Mutation_p.R271S|C14orf49_uc001yej.1_Missense_Mutation_p.R271S NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 271 Spectrin 1.|Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) ACTCCTCGCCCCTGGGAAAAT 0.532 NA 10 79 2.17888e-05 2.75588e-05 0.006214 1 0 CINP 51550 broad.mit.edu 37 14 102829188 102829188 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:102829188T>C uc001ylv.1 - 1 66 c.1A>G c.(1-3)ATG>GTG p.M1V TECPR2_uc010txw.1_5'Flank|TECPR2_uc010awl.2_5'Flank|TECPR2_uc001ylw.1_5'Flank|TECPR2_uc010txx.1_5'Flank NM_032630 NP_116019 Q9BW66 CINP_HUMAN cyclin-dependent kinase 2-interacting protein 1 cell cycle|cell division|DNA repair|DNA replication nucleus protein binding large_intestine(1) 1 GCACCTTCCATAAGGTCCACA 0.622 NA 5 34 0 0 0.000602 0 0 TECPR2 9895 broad.mit.edu 37 14 102891368 102891368 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr14:102891368C>G uc001ylw.1 + 6 839 c.691C>G c.(691-693)CTA>GTA p.L231V TECPR2_uc010txw.1_3'UTR|TECPR2_uc010awl.2_Missense_Mutation_p.L231V|TECPR2_uc010txx.1_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 231 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 GCAAAGTGATCTAACCTTGTA 0.448 NA 29 77 0 0 0.003271 0 0 OCA2 4948 broad.mit.edu 37 15 28096612 28096612 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:28096612G>T uc001zbh.3 - 22 2364 c.2254C>A c.(2254-2256)CTC>ATC p.L752I OCA2_uc010ayv.2_Missense_Mutation_p.L728I NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 752 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGTTCAGGAGCACGGGAATC 0.572 NA Oculocutaneous_Albinism 4 13 2.56e-06 3.43513e-06 0.009096 1 0 PGBD4 161779 broad.mit.edu 37 15 34396468 34396468 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:34396468A>T uc001zho.2 + 1 2195 c.1736A>T c.(1735-1737)TAC>TTC p.Y579F C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 579 0 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) TTTGAAATTTACCACACGAAA 0.259 NA 21 50 0 0 0.00278 0 0 AQR 9716 broad.mit.edu 37 15 35202392 35202392 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:35202392C>T uc001ziv.2 - 17 1788 c.1607G>A c.(1606-1608)CGT>CAT p.R536H NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 536 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AACATCTGCACGAACTCGGGT 0.448 NA 26 101 0 0 0.008361 0 0 UBR1 197131 broad.mit.edu 37 15 43374882 43374882 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:43374882C>G uc001zqq.2 - 3 437 c.371G>C c.(370-372)TGT>TCT p.C124S UBR1_uc010udk.1_Missense_Mutation_p.C124S NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 124 UBR-type. cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) GCAGTCCATACAGAGTACACA 0.274 NA 4 54 0 0 0.009096 0 0 SEMA6D 80031 broad.mit.edu 37 15 48053408 48053408 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:48053408C>A uc010bek.2 + 5 696 c.336C>A c.(334-336)GGC>GGA p.G112G SEMA6D_uc001zvw.2_Silent_p.G112G|SEMA6D_uc001zvx.1_Silent_p.G112G|SEMA6D_uc001zvy.2_Silent_p.G112G|SEMA6D_uc001zvz.2_Silent_p.G112G|SEMA6D_uc001zwa.2_Silent_p.G112G|SEMA6D_uc001zwb.2_Silent_p.G112G|SEMA6D_uc001zwc.2_Silent_p.G112G NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 112 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CTATGAAAGGCAAGCATAAAG 0.373 NA 5 42 3.59834e-05 4.47662e-05 0.001168 1 0 SLC12A1 6557 broad.mit.edu 37 15 48577447 48577447 + Splice_Site SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:48577447G>T uc001zwn.3 + 21 2845 c.2629_splice c.e21+1 p.D877_splice SLC12A1_uc001zwq.3_Splice_Site_p.D648_splice|SLC12A1_uc001zwr.3_Splice_Site_p.D604_splice NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CCTAAAAAAGGTAAGAACTTT 0.368 NA 19 51 4.96729e-08 7.26479e-08 0.008871 1 0 CYP19A1 1588 broad.mit.edu 37 15 51514613 51514613 + Silent SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:51514613C>G uc001zyz.3 - 6 812 c.561G>C c.(559-561)GTG>GTC p.V187V CYP19A1_uc001zza.3_Silent_p.V187V|CYP19A1_uc001zzb.2_Silent_p.V187V|CYP19A1_uc001zzd.2_Silent_p.V187V|CYP19A1_uc010bey.1_Silent_p.V187V NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 187 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GAAGGGTCAACACGTCCACAT 0.512 Melanoma(142;1016 1807 39614 48966 51721) NA 10 39 0 0 0.000978 0 0 NEDD4 4734 broad.mit.edu 37 15 56208095 56208095 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:56208095C>A uc002adj.2 - 1 1235 c.935G>T c.(934-936)GGC>GTC p.G312V NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.G312V|NEDD4_uc010ugj.1_Missense_Mutation_p.G312V|NEDD4_uc010bfm.2_Missense_Mutation_p.G312V|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 312 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) AGCACTAGTGCCATCCTCATT 0.413 NA 11 97 6.40141e-05 7.90626e-05 0.000978 1 0 CGNL1 84952 broad.mit.edu 37 15 57731566 57731566 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:57731566G>T uc002aeg.2 + 2 1445 c.1369G>T c.(1369-1371)GCC>TCC p.A457S CGNL1_uc010bfw.2_Missense_Mutation_p.A457S NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 457 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GGCTTCATGTGCCCACTCCAG 0.622 NA 14 34 7.93312e-07 1.09461e-06 0.00245 1 0 VPS13C 54832 broad.mit.edu 37 15 62161820 62161820 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:62161820C>G uc002agz.2 - 80 10701 c.10627G>C c.(10627-10629)GCC>CCC p.A3543P VPS13C_uc002aha.2_Missense_Mutation_p.A3500P|VPS13C_uc002ahb.1_Missense_Mutation_p.A3543P|VPS13C_uc002ahc.1_Missense_Mutation_p.A3500P NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3543 protein localization ovary(2) 2 TCCTTTTTGGCACCTTCAGAA 0.443 NA 11 89 0 0 0.001368 0 0 ZWILCH 55055 broad.mit.edu 37 15 66838952 66838952 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:66838952G>T uc002aqb.2 + 18 1957 c.1711G>T c.(1711-1713)GGT>TGT p.G571C ZWILCH_uc010bhu.1_Missense_Mutation_p.G457C|ZWILCH_uc002aqa.2_Missense_Mutation_p.G457C|ZWILCH_uc010bhv.2_Missense_Mutation_p.G457C NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Zwilch 571 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding ovary(1) 1 AACACTAAACGGTAGCCTGGA 0.373 NA 7 54 2.17888e-05 2.75588e-05 0.006214 1 0 ISLR2 57611 broad.mit.edu 37 15 74427168 74427168 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:74427168G>C uc002axd.2 + 4 2842 c.2073G>C c.(2071-2073)CAG>CAC p.Q691H ISLR2_uc002axe.2_Missense_Mutation_p.Q691H|ISLR2_uc010bjg.2_Missense_Mutation_p.Q691H|ISLR2_uc010bjf.2_Missense_Mutation_p.Q691H NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 691 Cytoplasmic (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 GGGACCTGCAGAGAGAGGAGA 0.687 NA OREG0023277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 42 0 0 0.004672 0 0 CTSH 1512 broad.mit.edu 37 15 79229742 79229742 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:79229742C>T uc002ben.2 - 4 208 c.111G>A c.(109-111)GAG>GAA p.E37E CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron|CTSH_uc010ung.1_Silent_p.E49E NM_148979 NP_683880 P09668 CATH_HUMAN cathepsin H isoform b precursor 49 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(2)|large_intestine(1) 3 GGTGGTACTCCTCCGTACTGT 0.493 NA 13 39 0 0 0.00245 0 0 RASGRF1 5923 broad.mit.edu 37 15 79294032 79294032 + Silent SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:79294032G>C uc002beq.2 - 17 2970 c.2595C>G c.(2593-2595)CCC>CCG p.P865P RASGRF1_uc002bep.2_Silent_p.P849P|RASGRF1_uc010blm.1_Silent_p.P774P|RASGRF1_uc002ber.3_Silent_p.P849P|RASGRF1_uc010unh.1_Silent_p.P260P|RASGRF1_uc002beo.2_Silent_p.P81P NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 867 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TGACTGATTTGGGTGTTGTTG 0.408 NA 23 121 0 0 0.003954 0 0 TMED3 23423 broad.mit.edu 37 15 79614470 79614470 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:79614470C>T uc002beu.2 + 3 669 c.568C>T c.(568-570)CTG>TTG p.L190L TMED3_uc010unj.1_Intron|TMED3_uc002bev.2_RNA NM_007364 NP_031390 Q9Y3Q3 TMED3_HUMAN transmembrane emp24 domain containing 3 190 Helical; (Potential). protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane ovary(1)|skin(1) 2 GACGATTGCCCTGTTCGTGGT 0.582 NA 17 66 0 0 0.004007 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651157 84651157 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:84651157C>A uc002bjz.3 + 21 3001 c.2777C>A c.(2776-2778)CCC>CAC p.P926H ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P926H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.P926H NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 926 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TATTTGCTGCCCAACACATCC 0.517 NA 12 86 7.03913e-09 1.06838e-08 0.001368 1 0 ZNF592 9640 broad.mit.edu 37 15 85345402 85345402 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:85345402G>T uc002bld.2 + 11 3918 c.3582G>T c.(3580-3582)ATG>ATT p.M1194I ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 1194 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAGCGGAGATGGCAGTGGAGG 0.547 NA 5 13 1.23904e-05 1.59673e-05 0.000602 1 0 NTRK3 4916 broad.mit.edu 37 15 88680653 88680653 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:88680653T>A uc002bme.1 - 6 766 c.604A>T c.(604-606)ATG>TTG p.M202L NTRK3_uc002bmh.2_Missense_Mutation_p.M202L|NTRK3_uc002bmf.1_Missense_Mutation_p.M202L|NTRK3_uc010upl.1_Missense_Mutation_p.M104L|NTRK3_uc010bnh.1_Missense_Mutation_p.M202L|NTRK3_uc002bmg.2_Missense_Mutation_p.M202L NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 202 Extracellular (Potential).|LRRCT. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CTGATGTTCATGCGGAAGAGA 0.612 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 6 29 0 0 0.001984 0 0 RLBP1 6017 broad.mit.edu 37 15 89761919 89761919 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:89761919G>T uc002bnl.2 - 4 398 c.18C>A c.(16-18)GGC>GGA p.G6G NM_000326 NP_000317 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 6 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1) 1 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) TGCGGAACGTGCCCACCTGGG 0.582 NA 11 33 1.33987e-11 2.22119e-11 0.008291 1 0 SOLH 6650 broad.mit.edu 37 16 597502 597502 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:597502G>T uc002chi.2 + 4 1027 c.664G>T c.(664-666)GCC>TCC p.A222S SOLH_uc002chh.1_Missense_Mutation_p.A222S NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 222 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) GGGCCCAGCTGCCGAACCAGA 0.751 NA 6 33 0.00307968 0.00347099 0.00308 1 0 ZNF598 90850 broad.mit.edu 37 16 2048807 2048807 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:2048807A>T uc002cof.1 - 13 2272 c.2257T>A c.(2257-2259)TTC>ATC p.F753I ZNF598_uc002coe.1_Missense_Mutation_p.F117I NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 753 intracellular zinc ion binding lung(1)|breast(1) 2 CTCTCCCGGAAGTTCTCGGGG 0.617 NA 3 6 0 0 0.004672 0 0 PGP 283871 broad.mit.edu 37 16 2263992 2263992 + Nonsense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:2263992T>A uc002cpk.1 - 2 747 c.703A>T c.(703-705)AAG>TAG p.K235* C16orf79_uc002cpi.1_5'Flank|C16orf79_uc010bsh.2_5'Flank|PGP_uc010uvz.1_RNA NM_001042371 NP_001035830 A6NDG6 PGP_HUMAN phosphoglycolate phosphatase 235 carbohydrate metabolic process phosphoglycolate phosphatase activity skin(1) 1 CGGCTGGGCTTCCCGATGATG 0.652 GBM(63;906 1080 2092 17773 18795) NA 12 83 0 0 0.003163 0 0 SRRM2 23524 broad.mit.edu 37 16 2813501 2813501 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:2813501G>T uc002crk.2 + 11 3521 c.2972G>T c.(2971-2973)GGG>GTG p.G991V SRRM2_uc002crj.1_Missense_Mutation_p.G895V|SRRM2_uc002crl.1_Missense_Mutation_p.G991V|SRRM2_uc010bsu.1_Missense_Mutation_p.G895V NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 991 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AGTCACTCAGGGTCTATTTCA 0.473 NA 31 156 9.45814e-24 1.90558e-23 0.004878 1 0 ZNF205 7755 broad.mit.edu 37 16 3170215 3170215 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:3170215C>T uc002cub.2 + 7 1689 c.1554C>T c.(1552-1554)AAC>AAT p.N518N ZNF205_uc002cua.2_Silent_p.N518N NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 518 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 GGCGCTCCAACCTGCACCGGC 0.627 NA 9 51 0 0 0.006214 0 0 NAGPA 51172 broad.mit.edu 37 16 5078957 5078957 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:5078957C>A uc002cyg.2 - 5 865 c.844G>T c.(844-846)GCC>TCC p.A282S NAGPA_uc010buc.2_Missense_Mutation_p.A13S|NAGPA_uc002cyf.2_Missense_Mutation_p.A140S|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Missense_Mutation_p.A57S NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester 282 Lumenal (Potential). carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity 0 N-Acetyl-D-glucosamine(DB00141) AGGTTGATGGCGTTGACCACG 0.597 NA 23 122 1.10923e-09 1.73763e-09 0.00278 1 0 USP7 7874 broad.mit.edu 37 16 8999094 8999094 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:8999094C>A uc002czl.2 - 14 1722 c.1523G>T c.(1522-1524)CGA>CTA p.R508L USP7_uc010uyk.1_Missense_Mutation_p.R409L|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.R409L|USP7_uc002czk.2_Missense_Mutation_p.R492L|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 508 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 AGTGCAGTGTCGAACAGACAG 0.433 NA OREG0023595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 93 0.00244969 0.00278857 0.00245 1 0 CIITA 4261 broad.mit.edu 37 16 10997612 10997612 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:10997612T>C uc002dai.3 + 9 930 c.797T>C c.(796-798)GTA>GCA p.V266A CIITA_uc002daj.3_Missense_Mutation_p.V267A|CIITA_uc002dak.3_Missense_Mutation_p.V217A|CIITA_uc002dag.2_Missense_Mutation_p.V266A|CIITA_uc002dah.2_Missense_Mutation_p.V218A|CIITA_uc010bup.1_Missense_Mutation_p.V266A NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 266 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 GCCAGCCAAGTACCCCCTCCC 0.602 NA T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 9 117 0 0 0.004482 0 0 UMOD 7369 broad.mit.edu 37 16 20359765 20359765 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:20359765G>T uc002dgz.2 - 3 987 c.858C>A c.(856-858)TAC>TAA p.Y286* UMOD_uc002dha.2_Nonsense_Mutation_p.Y286*|UMOD_uc002dhb.2_Nonsense_Mutation_p.Y319* NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 286 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 GACCTGTGCAGTACGCCAGGT 0.632 NA 10 36 0.000673444 0.00078626 0.008291 1 0 OTOA 146183 broad.mit.edu 37 16 21698784 21698784 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:21698784G>T uc002djh.2 + 7 451 c.450G>T c.(448-450)TTG>TTT p.L150F uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.L71F NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 150 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) AACGAGCCTTGCAGAGCCCTG 0.522 NA 23 103 2.12542e-12 3.61109e-12 0.00632 1 0 VWA3A 146177 broad.mit.edu 37 16 22142978 22142978 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:22142978C>G uc010vbq.1 + 19 1896 c.1800C>G c.(1798-1800)GAC>GAG p.D600E VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.D608E NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 600 VWFA 1. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) TGGAAGTAGACTTCAAGGACA 0.607 NA 11 22 0 0 0.001368 0 0 CACNG3 10368 broad.mit.edu 37 16 24372671 24372671 + Splice_Site SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:24372671A>T uc002dmf.2 + 4 1637 c.437_splice c.e4-2 p.G146_splice NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) CCCTTCTCTTAGGGTTAAGCA 0.428 NA 27 134 0 0 0.00632 0 0 C16orf82 162083 broad.mit.edu 37 16 27078574 27078574 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:27078574C>G uc010vcm.1 + 1 356 c.258C>G c.(256-258)AGC>AGG p.S86R NM_001145545 NP_001139017 Q7Z2V1 TNT_HUMAN hypothetical protein LOC162083 149 0 GCCATGCCAGCCTGAGCAGCG 0.642 NA 7 19 0 0 0.001984 0 0 LAT 27040 broad.mit.edu 37 16 28996747 28996747 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:28996747G>T uc002dsd.2 + 1 361 c.9G>T c.(7-9)GAG>GAT p.E3D uc010vct.1_Intron|SPNS1_uc010byq.1_3'UTR|LAT_uc010vdj.1_Missense_Mutation_p.E39D|LAT_uc002dsb.2_Missense_Mutation_p.E3D|LAT_uc002dsc.2_Missense_Mutation_p.E3D|LAT_uc010vdk.1_Missense_Mutation_p.E3D|LAT_uc010vdl.1_Missense_Mutation_p.E3D NM_014387 NP_055202 O43561 LAT_HUMAN linker for activation of T cells isoform a 3 Extracellular (Potential). calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity 0 Hepatocellular(780;0.244) AGATGGAGGAGGCCATCCTGG 0.657 NA 5 64 1.024e-07 1.48491e-07 0.000602 1 0 SRCAP 10847 broad.mit.edu 37 16 30749056 30749056 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:30749056G>T uc002dze.1 + 34 8080 c.7695G>T c.(7693-7695)GAG>GAT p.E2565D SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2360D NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2565 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) AGTCCCTGGAGCTGGCTTCTG 0.557 NA 20 78 0.000958276 0.0011169 0.007413 1 0 STX1B 112755 broad.mit.edu 37 16 31012463 31012463 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:31012463C>A uc010cad.2 - 3 269 c.157G>T c.(157-159)GTG>TTG p.V53L STX1B_uc010vfd.1_Missense_Mutation_p.V53L NM_052874 NP_443106 P61266 STX1B_HUMAN syntaxin 1B 53 Potential.|Cytoplasmic (Potential). intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity 0 TGTTTTTTCACCTGCTCCACA 0.582 NA 10 70 1.76689e-08 2.62345e-08 0.006214 1 0 CCDC135 84229 broad.mit.edu 37 16 57760106 57760106 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:57760106G>T uc002emi.2 + 13 1974 c.1885G>T c.(1885-1887)GCC>TCC p.A629S CCDC135_uc002emj.2_Missense_Mutation_p.A629S|CCDC135_uc002emk.2_Missense_Mutation_p.A564S NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 629 cytoplasm central_nervous_system(1) 1 CCACATCACGGCCTCCAAGCG 0.652 NA 14 39 4.3838e-07 6.16077e-07 0.001855 1 0 FTSJD1 55783 broad.mit.edu 37 16 71319360 71319360 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:71319360T>A uc010cga.2 - 3 870 c.464A>T c.(463-465)AAC>ATC p.N155I FTSJD1_uc002ezy.3_Missense_Mutation_p.N155I|FTSJD1_uc002ezz.3_Missense_Mutation_p.N155I NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 155 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 TAAGTAGTGGTTGAGACTAGC 0.413 NA 27 72 0 0 0.00632 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76513435 76513435 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:76513435G>T uc002feu.1 + 14 2267 c.1882G>T c.(1882-1884)GAA>TAA p.E628* CNTNAP4_uc002fev.1_Nonsense_Mutation_p.E492*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.E555*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.E631*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.E603* NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 628 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CAATATGACCGGTGAGTTAAT 0.333 NA 21 62 1.00905e-13 1.78082e-13 0.008871 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76569441 76569441 + Splice_Site SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr16:76569441G>T uc002feu.1 + 20 3141 c.2756_splice c.e20-1 p.G919_splice CNTNAP4_uc002fev.1_Splice_Site_p.G783_splice|CNTNAP4_uc010chb.1_Splice_Site_p.G846_splice|CNTNAP4_uc002fex.1_Splice_Site_p.G922_splice NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TTCCCTTTTAGGTGGAACGGC 0.463 NA 13 29 4.3838e-07 6.16077e-07 0.001855 1 0 TRPV3 162514 broad.mit.edu 37 17 3448539 3448539 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:3448539C>A uc002fvt.1 - 3 468 c.146G>T c.(145-147)GGG>GTG p.G49V TRPV3_uc010vrh.1_Missense_Mutation_p.G33V|TRPV3_uc010vri.1_Missense_Mutation_p.G33V|TRPV3_uc010vrj.1_Missense_Mutation_p.G33V|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.G33V|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.G49V|TRPV3_uc002fvu.2_Missense_Mutation_p.G49V NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 49 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) GGGTTCAAACCCTTCTATCTC 0.552 NA 16 42 0.00400662 0.00450828 0.004007 1 0 ITGAE 3682 broad.mit.edu 37 17 3649152 3649152 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:3649152C>A uc002fwo.3 - 18 2324 c.2225G>T c.(2224-2226)TGT>TTT p.C742F NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 742 Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TACGTCTGAACACTGCAGCCG 0.587 NSCLC(182;635 2928 8995 38788) NA 19 52 6.49762e-13 1.11225e-12 0.006122 1 0 ASGR1 432 broad.mit.edu 37 17 7077011 7077011 + Silent SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:7077011C>G uc002ges.3 - 9 1253 c.843G>C c.(841-843)CTG>CTC p.L281L ASGR1_uc010clx.1_3'UTR NM_001671 NP_001662 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 281 Extracellular (Probable). receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1) 2 TGGCCTTGTCCAGCTCTGTCT 0.637 NA 7 46 0 0 0.00308 0 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C A rs121912656 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:7577547C>A uc002gim.2 - 7 928 c.734G>T c.(733-735)GGC>GTC p.G245V TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 43 0.00307968 0.00347099 0.00308 1 0 MYH13 8735 broad.mit.edu 37 17 10222310 10222310 + Missense_Mutation SNP G G T rs116855901 by1000genomes TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:10222310G>T uc002gmk.1 - 27 3625 c.3535C>A c.(3535-3537)CGC>AGC p.R1179S NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1179 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 AGGTCCCTGCGCATTTTCTGG 0.582 NA 45 122 8.01111e-26 1.65806e-25 0.002522 1 0 MYH2 4620 broad.mit.edu 37 17 10432977 10432977 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:10432977C>A uc010coi.2 - 24 3149 c.3021G>T c.(3019-3021)GAG>GAT p.E1007D uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1007D|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1007 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GCTGGTGGGCCTCCTGGAGAG 0.483 NA 34 110 1.63038e-21 3.24649e-21 0.00361 1 0 MYH3 4621 broad.mit.edu 37 17 10543408 10543408 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:10543408C>T uc002gmq.1 - 21 2664 c.2587G>A c.(2587-2589)GAA>AAA p.E863K NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 863 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TTGGCGAGTTCATCTTTGGTT 0.478 NA 21 68 0 0 0.002299 0 0 NF1 4763 broad.mit.edu 37 17 29528427 29528427 + Splice_Site SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:29528427A>G uc002hgg.2 + 11 1519 c.1186_splice c.e11-2 p.I396_splice NF1_uc002hge.1_Splice_Site_p.I396_splice|NF1_uc002hgf.1_Splice_Site_p.I396_splice|NF1_uc002hgh.2_Splice_Site_p.I396_splice|NF1_uc010csn.1_Splice_Site_p.I256_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTTTTTCTATAGATCTGCCTG 0.308 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 58 80 0 0 0.00361 0 0 SLFN12 55106 broad.mit.edu 37 17 33738771 33738771 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:33738771G>A uc002hji.3 - 4 1700 c.1323C>T c.(1321-1323)CTC>CTT p.L441L SLFN12_uc002hjj.3_Silent_p.L441L|SLFN12_uc010cts.2_Silent_p.L441L NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 441 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAGCATCACAGAGGACTTTGT 0.463 NA 35 62 0 0 0.004289 0 0 PIGW 284098 broad.mit.edu 37 17 34893860 34893860 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:34893860G>A uc002hmy.1 + 2 953 c.910G>A c.(910-912)GAA>AAA p.E304K MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.E304K NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 304 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGCCAACCGCGAAGGAATAAT 0.428 NA 8 77 0 0 0.00308 0 0 CDK12 51755 broad.mit.edu 37 17 37619304 37619304 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:37619304A>G uc010cvv.2 + 1 1566 c.980A>G c.(979-981)TAT>TGT p.Y327C CDK12_uc010wef.1_Missense_Mutation_p.Y327C|CDK12_uc002hrw.3_Missense_Mutation_p.Y327C NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 327 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 CCCAGTCCCTATGGTCGAAGG 0.562 NA TCGA Ovarian(9;0.13) 17 40 0 0 0.007413 0 0 KRTAP3-3 85293 broad.mit.edu 37 17 39150184 39150184 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:39150184G>T uc002hvr.1 - 1 202 c.166C>A c.(166-168)CAC>AAC p.H56N NM_033185 NP_149441 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 56 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity 0 Breast(137;0.00043) TGAGGAATGTGGCAGGGTGGG 0.617 NA 27 46 3.6726e-16 6.94844e-16 0.003954 1 0 KRT37 8688 broad.mit.edu 37 17 39577234 39577234 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:39577234G>T uc002hwp.1 - 7 1293 c.1246C>A c.(1246-1248)CCC>ACC p.P416T uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 416 Tail. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) GGATTGCAGGGGAGTCTGCAG 0.552 NA 15 31 0.000219431 0.000259743 0.00245 1 0 HAP1 9001 broad.mit.edu 37 17 39881192 39881192 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:39881192C>T uc002hxm.1 - 12 1789 c.1777G>A c.(1777-1779)GAG>AAG p.E593K JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.E541K|HAP1_uc002hxo.1_Missense_Mutation_p.E524K|HAP1_uc002hxp.1_Missense_Mutation_p.E516K NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 593 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TCCACCTCCTCCCAGCCCTCG 0.627 NA 15 331 0 0 0.003163 0 0 JUP 3728 broad.mit.edu 37 17 39927916 39927916 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:39927916C>G uc002hxq.2 - 2 468 c.191G>C c.(190-192)GGG>GCG p.G64A JUP_uc010wfs.1_Missense_Mutation_p.G64A|JUP_uc002hxr.2_Missense_Mutation_p.G64A|JUP_uc002hxs.2_Missense_Mutation_p.G64A NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 64 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GGGGGGCACCCCCTGGGTGTA 0.612 Colon(16;42 520 6044 17852 28530) NA 16 39 0 0 0.004007 0 0 ITGA2B 3674 broad.mit.edu 37 17 42457145 42457145 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:42457145A>T uc002igt.1 - 18 1822 c.1790T>A c.(1789-1791)GTG>GAG p.V597E ITGA2B_uc002igu.1_Missense_Mutation_p.V78E NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 597 Extracellular (Potential). axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GAGGCTGAGCACAATGGGGCT 0.607 NA 16 87 0 0 0.004007 0 0 ABCA10 10349 broad.mit.edu 37 17 67197703 67197703 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:67197703C>A uc010dfa.1 - 11 1992 c.1113G>T c.(1111-1113)GAG>GAT p.E371D ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 371 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CAGAGGAATGCTCAGGATTTA 0.358 NA 14 52 1.49906e-05 1.92454e-05 0.00245 1 0 SDK2 54549 broad.mit.edu 37 17 71419589 71419589 + Silent SNP C C G rs146912233 by1000genomes TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:71419589C>G uc010dfm.2 - 14 1833 c.1833G>C c.(1831-1833)ACG>ACC p.T611T SDK2_uc010dfn.2_Silent_p.T290T NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 611 Extracellular (Potential).|Fibronectin type-III 1. cell adhesion integral to membrane ovary(2) 2 GCTTGGTCCACGTCAGGTTGA 0.607 NA 12 15 0 0 0.000978 0 0 SDK2 54549 broad.mit.edu 37 17 71431626 71431626 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:71431626G>T uc010dfm.2 - 9 1158 c.1158C>A c.(1156-1158)GCC>GCA p.A386A SDK2_uc010dfn.2_Silent_p.A65A NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 386 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion integral to membrane ovary(2) 2 GCACCTCGCCGGCTGCATTGC 0.632 NA 3 7 0.004672 0.00517176 0.004672 1 0 GGA3 23163 broad.mit.edu 37 17 73235895 73235895 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:73235895C>A uc002jni.1 - 13 1567 c.1558G>T c.(1558-1560)GAT>TAT p.D520Y GGA3_uc002jnj.1_Missense_Mutation_p.D487Y|GGA3_uc010wrw.1_Missense_Mutation_p.D398Y|GGA3_uc002jnk.1_Missense_Mutation_p.D448Y|GGA3_uc010wrx.1_Missense_Mutation_p.D398Y|GGA3_uc010wry.1_Missense_Mutation_p.D448Y NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 520 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) AGAAGCTGATCGAGGGCATCC 0.587 NA 13 33 9.05144e-12 1.51152e-11 0.001855 1 0 QRICH2 84074 broad.mit.edu 37 17 74301008 74301008 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:74301008C>A uc002jrd.1 - 2 231 c.51G>T c.(49-51)CGG>CGT p.R17R QRICH2_uc010dgw.1_5'UTR NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 17 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 GTTCATCAACCCGCTGTAAAA 0.398 NA 45 107 2.40228e-13 4.14332e-13 0.003214 1 0 SEPT9 10801 broad.mit.edu 37 17 75398255 75398255 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr17:75398255A>G uc002jts.3 + 3 317 c.191A>G c.(190-192)CAG>CGG p.Q64R SEPT9_uc010wtk.1_Missense_Mutation_p.Q45R|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Missense_Mutation_p.Q46R|SEPT9_uc002jtv.2_Missense_Mutation_p.Q57R|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank NM_001113491 NP_001106963 Q9UHD8 SEPT9_HUMAN septin 9 isoform a 64 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding|protein binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(99;0.153) CAGAAATTCCAGGACCTGGGC 0.652 NA 3 50 0 0 0.009096 0 0 LAMA1 284217 broad.mit.edu 37 18 7044769 7044769 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr18:7044769G>C uc002knm.2 - 7 1022 c.928C>G c.(928-930)CAG>GAG p.Q310E LAMA1_uc010wzj.1_Translation_Start_Site NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 310 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGGGCTGCTGATGGTACCCA 0.478 NA 17 116 0 0 0.00499 0 0 CEP192 55125 broad.mit.edu 37 18 13048964 13048964 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr18:13048964C>T uc010xac.1 + 16 2254 c.2174C>T c.(2173-2175)GCA>GTA p.A725V CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.A250V|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.A466V NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 725 ovary(4)|pancreas(1) 5 ATTGCAGAGGCATCAGTTAAT 0.413 NA 10 108 0 0 0.006214 0 0 POTEC 388468 broad.mit.edu 37 18 14542862 14542862 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr18:14542862C>A uc010dln.2 - 1 738 c.284G>T c.(283-285)AGG>ATG p.R95M POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 95 skin(3) 3 CATCTTGCTCCTGAGCGTCTT 0.617 NA 8 261 1.12685e-05 1.46598e-05 0.004482 1 0 GATA6 2627 broad.mit.edu 37 18 19762969 19762969 + Missense_Mutation SNP A A C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr18:19762969A>C uc002ktt.1 + 6 1850 c.1585A>C c.(1585-1587)AAT>CAT p.N529H GATA6_uc002ktu.1_Missense_Mutation_p.N529H NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 529 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) TTGCAGCAAAAATACTTCCCC 0.373 Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999) NA 15 54 0 0 0.008871 0 0 DTNA 1837 broad.mit.edu 37 18 32462098 32462098 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr18:32462098G>T uc010dmn.1 + 20 2148 c.2147G>T c.(2146-2148)CGG>CTG p.R716L DTNA_uc002kxw.2_Missense_Mutation_p.R659L|DTNA_uc010dmj.2_Missense_Mutation_p.R656L|DTNA_uc002kxz.2_Missense_Mutation_p.R663L|DTNA_uc002kxy.2_Missense_Mutation_p.R656L|DTNA_uc010xby.1_Missense_Mutation_p.R406L|DTNA_uc010xbz.1_Missense_Mutation_p.R425L|DTNA_uc010xca.1_Missense_Mutation_p.R368L|DTNA_uc002kye.2_Missense_Mutation_p.R364L NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 716 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 GACTCTGTCCGGCAGCTGGAG 0.488 NA 8 33 1.12685e-05 1.46598e-05 0.004482 1 0 SETBP1 26040 broad.mit.edu 37 18 42531871 42531871 + Missense_Mutation SNP G G A rs140028039 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr18:42531871G>A uc010dni.2 + 4 2862 c.2566G>A c.(2566-2568)GTG>ATG p.V856M NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 856 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GCTGTCCCCTGTGAGCGAGTC 0.572 NA Schinzel-Giedion_syndrome 14 15 0 0 0.00245 0 0 WDR7 23335 broad.mit.edu 37 18 54361959 54361959 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr18:54361959C>T uc002lgk.1 + 10 1287 c.1076C>T c.(1075-1077)TCA>TTA p.S359L WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S359L NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 359 WD 4. ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TGGAACATATCAGACACAGCT 0.328 NA 7 27 0 0 0.004482 0 0 PTBP1 5725 broad.mit.edu 37 19 810798 810798 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:810798G>C uc002lpr.2 + 14 1674 c.1568G>C c.(1567-1569)CGG>CCG p.R523P PTBP1_uc002lpp.2_Missense_Mutation_p.R549P|PTBP1_uc002lpq.2_Missense_Mutation_p.R542P|PTBP1_uc002lps.2_Missense_Mutation_p.R189P|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R519P|hsa-mir-3187|MI0014231_5'Flank NM_031991 NP_114368 P26599 PTBP1_HUMAN polypyrimidine tract-binding protein 1 isoform 523 RRM 4. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding kidney(1)|skin(1) 2 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACCACCTGCGGGTCTCCTTC 0.612 NA 12 72 0 0 0.00245 0 0 C19orf59 199675 broad.mit.edu 37 19 7742605 7742605 + Silent SNP G G T rs142098368 by1000genomes TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:7742605G>T uc002mhh.1 + 2 202 c.177G>T c.(175-177)ACG>ACT p.T59T NM_174918 NP_777578 Q8IX19 MCEM1_HUMAN mast cell-expressed membrane protein 1 59 Cytoplasmic (Potential). integral to membrane skin(1) 1 CACGACCCACGAGCCAAGGTG 0.602 NA OREG0025208 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 26 0.00116845 0.00134126 0.001168 1 0 ZNF699 374879 broad.mit.edu 37 19 9408097 9408097 + Silent SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:9408097T>C uc002mlc.1 - 4 345 c.345A>G c.(343-345)GAA>GAG p.E115E NM_198535 NP_940937 Q32M78 ZN699_HUMAN zinc finger protein 699 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGGATATTTTTTCTCCACAAA 0.348 NA 16 44 0 0 0.004007 0 0 ZNF791 163049 broad.mit.edu 37 19 12740052 12740052 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:12740052A>G uc002mua.2 + 4 1871 c.1709A>G c.(1708-1710)CAT>CGT p.H570R ZNF791_uc010xml.1_Missense_Mutation_p.H538R|ZNF791_uc010dyu.1_Missense_Mutation_p.H461R|ZNF791_uc010xmm.1_Missense_Mutation_p.H461R NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 570 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TTAAAAAAACATATGAGAATG 0.333 NA 18 42 0 0 0.010504 0 0 CD97 976 broad.mit.edu 37 19 14507186 14507186 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:14507186T>C uc002myl.2 + 5 502 c.379T>C c.(379-381)TGT>CGT p.C127R CD97_uc002mym.2_Missense_Mutation_p.C127R|CD97_uc002myn.2_Intron NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 127 Extracellular (Potential).|EGF-like 3; calcium-binding (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 CCCAAGGCTCTGTAAAAGCTA 0.572 NA 8 126 0 0 0.004482 0 0 EMR2 30817 broad.mit.edu 37 19 14876179 14876179 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:14876179C>A uc002mzp.1 - 10 1315 c.859G>T c.(859-861)GAC>TAC p.D287Y EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Missense_Mutation_p.D287Y|EMR2_uc002mzo.1_Missense_Mutation_p.D287Y|EMR2_uc002mzq.1_Missense_Mutation_p.D238Y|EMR2_uc002mzr.1_Missense_Mutation_p.D238Y|EMR2_uc002mzs.1_Missense_Mutation_p.D145Y|EMR2_uc002mzt.1_Missense_Mutation_p.D194Y|EMR2_uc002mzu.1_Missense_Mutation_p.D194Y|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 287 Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 CTGCCCAGGTCCTGGACTTTG 0.592 NA 11 101 1.49906e-05 1.92454e-05 0.00245 1 0 EMR2 30817 broad.mit.edu 37 19 14877889 14877889 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:14877889A>G uc002mzp.1 - 6 844 c.388T>C c.(388-390)TGT>CGT p.C130R EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.C130R|EMR2_uc002mzo.1_Missense_Mutation_p.C130R|EMR2_uc002mzq.1_Missense_Mutation_p.C130R|EMR2_uc002mzr.1_Missense_Mutation_p.C130R|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 130 Extracellular (Potential).|EGF-like 3; calcium-binding. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 TAGCTTTTACAGAGCCTTGGG 0.592 NA 7 12 0 0 0.001984 0 0 OR7A10 390892 broad.mit.edu 37 19 14952304 14952304 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:14952304G>T uc002mzx.1 - 1 386 c.386C>A c.(385-387)CCT>CAT p.P129H NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) GTAGTGCAGAGGGTGACAGAT 0.468 NA 9 58 2.17888e-05 2.75588e-05 0.006214 1 0 CYP4F2 8529 broad.mit.edu 37 19 15989681 15989681 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:15989681C>T uc002nbs.1 - 13 1513 c.1463G>A c.(1462-1464)CGC>CAC p.R488H CYP4F2_uc010xot.1_Missense_Mutation_p.R339H NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 488 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GACGCGGAAGCGCAGCAGCGT 0.677 NA 6 50 0 0 0.00308 0 0 FCHO1 23149 broad.mit.edu 37 19 17892047 17892047 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:17892047G>T uc010ebb.2 + 20 1824 c.1635G>T c.(1633-1635)ATG>ATT p.M545I FCHO1_uc002nhg.3_Missense_Mutation_p.M545I|FCHO1_uc002nhh.2_Missense_Mutation_p.M545I|FCHO1_uc010xpw.1_Missense_Mutation_p.M495I|FCHO1_uc002nhi.2_Missense_Mutation_p.M1I|FCHO1_uc002nhj.2_Intron NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 545 Pro-rich. breast(1) 1 TAGACCTGATGCCTGCACCTG 0.627 NA 11 122 1.08611e-07 1.55843e-07 0.000978 1 0 SFRS14 10147 broad.mit.edu 37 19 19136604 19136604 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:19136604C>G uc002nkx.2 - 3 699 c.553G>C c.(553-555)GAG>CAG p.E185Q SFRS14_uc002nkz.1_Missense_Mutation_p.E199Q|SFRS14_uc002nla.1_Missense_Mutation_p.E185Q|SFRS14_uc002nlb.2_Missense_Mutation_p.E185Q|SFRS14_uc010xqk.1_Intron NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 185 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) CTCTCCTTCTCCAAACACTCT 0.517 NA 5 46 0 0 0.001168 0 0 ZNF430 80264 broad.mit.edu 37 19 21216307 21216307 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:21216307G>T uc002npj.2 + 3 252 c.142G>T c.(142-144)GAG>TAG p.E48* ZNF430_uc002npk.2_Nonsense_Mutation_p.E48* NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 48 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 TTCTCTGGAGGAGTGGCAATG 0.448 NA 34 96 1.45844e-13 2.5411e-13 0.002836 1 0 ZNF208 7757 broad.mit.edu 37 19 22154080 22154080 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:22154080G>T uc002nqp.2 - 6 3521 c.3372C>A c.(3370-3372)CCC>CCA p.P1124P ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CACATTTGTAGGGTTTCTCTC 0.373 NA 13 48 7.03913e-09 1.06838e-08 0.001368 1 0 ZNF208 7757 broad.mit.edu 37 19 22154113 22154114 + Missense_Mutation DNP AG AG TA TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:22154113_22154114AG>TA uc002nqp.2 - 6 3487_3488 c.3338_3339CT>TA c.(3337-3339)ACT>ATA p.T1113I ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CCTTATGTTTAGTGAGGATTGA 0.386 NA 10 56 0 0 0.004672 0 0 ZNF98 148198 broad.mit.edu 37 19 22574517 22574517 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:22574517G>T uc002nqt.2 - 4 1642 c.1520C>A c.(1519-1521)ACA>AAA p.T507K NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 507 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CATCTTATGTGTAGTAAGGTG 0.383 NA 24 62 7.07758e-08 1.02851e-07 0.004656 1 0 ZNF536 9745 broad.mit.edu 37 19 31038967 31038967 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:31038967G>T uc002nsu.1 + 4 2579 c.2441G>T c.(2440-2442)GGG>GTG p.G814V ZNF536_uc010edd.1_Missense_Mutation_p.G814V NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 814 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) CCGCTGTCTGGGCAACCCCCA 0.572 NA 35 110 6.53348e-20 1.28229e-19 0.003755 1 0 DMKN 93099 broad.mit.edu 37 19 36003562 36003562 + Missense_Mutation SNP A A C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:36003562A>C uc002nzm.3 - 2 740 c.557T>G c.(556-558)ATG>AGG p.M186R DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.M186R|DMKN_uc002nzn.3_Missense_Mutation_p.M186R|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.M186R|DMKN_uc010eeb.2_Missense_Mutation_p.M186R|DMKN_uc002oaa.3_Missense_Mutation_p.M186R|DMKN_uc002oab.3_Missense_Mutation_p.M186R NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN dermokine isoform 2 precursor 186 Gly-rich. extracellular region large_intestine(1)|ovary(1)|skin(1) 3 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTGAGGATTCATTCCAAAGCT 0.607 NA 8 69 0 0 0.004482 0 0 ZNF567 163081 broad.mit.edu 37 19 37211274 37211274 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:37211274G>T uc010xtl.1 + 6 1870 c.1648G>T c.(1648-1650)GTA>TTA p.V550L ZNF567_uc002oeo.1_Missense_Mutation_p.V550L|ZNF567_uc010xtk.1_Missense_Mutation_p.V550L|ZNF567_uc002oep.3_Missense_Mutation_p.V519L|ZNF567_uc002oeq.1_Missense_Mutation_p.V519L NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 550 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AACCCTCACTGTACATCAGAA 0.408 NA 26 123 6.12954e-19 1.18597e-18 0.004656 1 0 MAP4K1 11184 broad.mit.edu 37 19 39087686 39087686 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:39087686G>C uc002oix.1 - 25 2037 c.1929C>G c.(1927-1929)TTC>TTG p.F643L MAP4K1_uc002oiw.1_Missense_Mutation_p.F230L|MAP4K1_uc002oiy.1_Missense_Mutation_p.F643L NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 643 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGACAAGCAGGAATTTGTTCA 0.592 NA 4 81 0 0 0.009096 0 0 PLD3 23646 broad.mit.edu 37 19 40872767 40872767 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:40872767G>A uc002onm.3 + 5 588 c.190G>A c.(190-192)GAC>AAC p.D64N PLD3_uc002onj.3_Missense_Mutation_p.D64N|PLD3_uc002onk.3_Missense_Mutation_p.D64N|PLD3_uc002onl.3_Missense_Mutation_p.D64N|PLD3_uc002onn.2_Missense_Mutation_p.D64N|PLD3_uc002ono.2_Missense_Mutation_p.R93Q NM_001031696 NP_001026866 Q8IV08 PLD3_HUMAN phospholipase D3 64 Lumenal (Potential). lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding skin(2)|ovary(1) 3 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) GGAATACGGCGACTTGCATCT 0.627 NA 15 118 0 0 0.004007 0 0 ERCC1 2067 broad.mit.edu 37 19 45923668 45923668 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:45923668C>T uc002pbs.1 - 4 485 c.339G>A c.(337-339)CTG>CTA p.L113L ERCC1_uc002pbt.1_Silent_p.L113L|ERCC1_uc002pbu.1_Silent_p.L41L|ERCC1_uc002pbv.2_Silent_p.L113L NM_001983 NP_001974 P07992 ERCC1_HUMAN excision repair cross-complementing 1 isofrom 2 113 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding ovary(2) 2 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) GCACGAACTTCAGTACGGGAT 0.517 NA NER 6 8 0 0 0.001168 0 0 IGFL3 388555 broad.mit.edu 37 19 46627241 46627241 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:46627241G>T uc002pea.1 - 3 277 c.252C>A c.(250-252)CCC>CCA p.P84P NM_207393 NP_997276 Q6UXB1 IGFL3_HUMAN IGF-like family member 3 precursor 84 extracellular region protein binding 0 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) CAAAAGACTCGGGACAGCAGA 0.537 NA 69 109 2.26907e-38 4.8735e-38 0.00361 1 0 PRR12 57479 broad.mit.edu 37 19 50099610 50099610 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:50099610G>A uc002poo.3 + 4 2018 c.2018G>A c.(2017-2019)GGA>GAA p.G673E NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 416 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GCCTCTAAGGGACTTGGGGGG 0.672 NA 3 10 0 0 0.009096 0 0 C19orf41 126123 broad.mit.edu 37 19 50666245 50666245 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:50666245C>A uc002prp.1 - 1 294 c.207G>T c.(205-207)GCG>GCT p.A69A NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 69 Extracellular (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) ACACGTTCAGCGCGTAGTCCC 0.682 NA 20 32 1.64293e-13 2.85528e-13 0.00333 1 0 GPR32 2854 broad.mit.edu 37 19 51274755 51274755 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:51274755G>T uc010ycf.1 + 1 898 c.898G>T c.(898-900)GCT>TCT p.A300S NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 300 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CATCCTCCAGGCTAGCTTTGC 0.522 Esophageal Squamous(113;152 1581 5732 15840 44398) NA 41 62 2.95478e-19 5.74961e-19 0.00874 1 0 ZNF766 90321 broad.mit.edu 37 19 52793794 52793794 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:52793794G>A uc002pyr.1 + 4 793 c.750G>A c.(748-750)AAG>AAA p.K250K ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Silent_p.K265K NM_001010851 NP_001010851 Q5HY98 ZN766_HUMAN zinc finger protein 766 250 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) AGTGTGGCAAGCTCTTCAATC 0.443 NA 13 18 0 0 0.001368 0 0 TSEN34 79042 broad.mit.edu 37 19 54695979 54695979 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:54695979C>T uc002qdu.2 + 4 609 c.500C>T c.(499-501)TCC>TTC p.S167F MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Missense_Mutation_p.S167F|TSEN34_uc002qdv.2_Missense_Mutation_p.S167F|TSEN34_uc002qdw.2_Missense_Mutation_p.S167F NM_024075 NP_076980 Q9BSV6 SEN34_HUMAN tRNA-intron endonuclease 34 167 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity 0 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCCTCGTCTTCCCAAGCAGGA 0.602 Esophageal Squamous(37;841 964 4869 42824) NA 5 77 0 0 0.001168 0 0 LILRB3 11025 broad.mit.edu 37 19 54724968 54724968 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:54724968G>C uc002qef.1 - 5 1053 c.942C>G c.(940-942)AAC>AAG p.N314K LILRB3_uc002qee.1_Missense_Mutation_p.N314K|LILRB3_uc002qeh.1_Missense_Mutation_p.N314K|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.N314K|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Missense_Mutation_p.N314K|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Missense_Mutation_p.N314K|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Missense_Mutation_p.N314K|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 314 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCATCAGGATGTTCAGGGGGT 0.682 NA 13 12 0 0 0.007413 0 0 NLRP7 199713 broad.mit.edu 37 19 55450278 55450278 + Nonsense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:55450278C>A uc002qih.3 - 4 1985 c.1909G>T c.(1909-1911)GAA>TAA p.E637* NLRP7_uc002qig.3_Nonsense_Mutation_p.E637*|NLRP7_uc002qii.3_Nonsense_Mutation_p.E637*|NLRP7_uc010esk.2_Nonsense_Mutation_p.E637*|NLRP7_uc010esl.2_Nonsense_Mutation_p.E665* NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 637 LRR 1. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) ATGTCCAGTTCAAAATCCATG 0.468 NA 22 43 1.9806e-07 2.82411e-07 0.002299 1 0 NLRP11 204801 broad.mit.edu 37 19 56313001 56313001 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:56313001A>T uc010ygf.1 - 7 2819 c.2108T>A c.(2107-2109)CTA>CAA p.L703Q NLRP11_uc002qlz.2_Missense_Mutation_p.L550Q|NLRP11_uc002qmb.2_Missense_Mutation_p.L604Q|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 703 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AAACATATTTAGGGAAATGGA 0.463 NA 24 49 0 0 0.004656 0 0 NLRP5 126206 broad.mit.edu 37 19 56565158 56565158 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr19:56565158G>C uc002qmj.2 + 13 3283 c.3283G>C c.(3283-3285)GTT>CTT p.V1095L NLRP5_uc002qmi.2_Missense_Mutation_p.V1076L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 1095 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AAAGAACAGTGTTCTGGCGAG 0.617 NA 13 39 0 0 0.004007 0 0 MYT1L 23040 broad.mit.edu 37 2 1890380 1890380 + Splice_Site SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:1890380C>A uc002qxe.2 - 18 3470 c.2643_splice c.e18-1 p.T881_splice MYT1L_uc002qxd.2_Splice_Site_p.T879_splice|MYT1L_uc010ewl.1_Splice_Site NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCCAGACAGACTGTAAGACAG 0.448 NA 6 36 5.9392e-07 8.31245e-07 0.001168 1 0 KCNF1 3754 broad.mit.edu 37 2 11053045 11053046 + Missense_Mutation DNP CA CA AG TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:11053045_11053046CA>AG uc002rax.2 + 1 983_984 c.493_494CA>AG c.(493-495)CAG>AGG p.Q165R NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 165 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GCGCCGCTGCCAGAAGTGCGTC 0.698 NA 5 40 0 0 0.004672 0 0 C2orf39 92749 broad.mit.edu 37 2 26676259 26676259 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:26676259G>T uc002rhg.2 + 14 1835 c.1761G>T c.(1759-1761)GAG>GAT p.E587D NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 587 Glu-rich. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGAATTggagctggcagagc 0.358 NA 20 81 1.37878e-21 2.75353e-21 0.00333 1 0 OTOF 9381 broad.mit.edu 37 2 26690031 26690031 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:26690031C>A uc002rhk.2 - 35 4425 c.4298G>T c.(4297-4299)CGG>CTG p.R1433L OTOF_uc010yla.1_Missense_Mutation_p.R163L|OTOF_uc002rhh.2_Missense_Mutation_p.R666L|OTOF_uc002rhi.2_Missense_Mutation_p.R743L|OTOF_uc002rhj.2_Missense_Mutation_p.R666L NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1433 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTCTTGCCCCGAAGCAAGTT 0.602 GBM(102;732 1451 20652 24062 31372) NA 14 57 3.27435e-08 4.81979e-08 0.00245 1 0 OTOF 9381 broad.mit.edu 37 2 26739403 26739403 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:26739403C>A uc002rhk.2 - 5 519 c.392G>T c.(391-393)GGG>GTG p.G131V OTOF_uc010ylb.1_RNA NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 131 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGAAGTCCCCATCGTCCCA 0.647 GBM(102;732 1451 20652 24062 31372) NA 20 87 3.73194e-20 7.37893e-20 0.010504 1 0 LTBP1 4052 broad.mit.edu 37 2 33540297 33540297 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:33540297C>A uc002ros.2 + 24 3694 c.3694C>A c.(3694-3696)CAG>AAG p.Q1232K LTBP1_uc002rot.2_Missense_Mutation_p.Q906K|LTBP1_uc002rou.2_Missense_Mutation_p.Q905K|LTBP1_uc002rov.2_Missense_Mutation_p.Q852K|LTBP1_uc010ymz.1_Missense_Mutation_p.Q905K|LTBP1_uc010yna.1_Missense_Mutation_p.Q852K|LTBP1_uc010ynb.1_Missense_Mutation_p.Q171K NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1231 EGF-like 12; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGTCTGCCAGCAGGGTTTCTC 0.423 NA 12 60 1.5842e-08 2.38854e-08 0.001855 1 0 SFRS7 6432 broad.mit.edu 37 2 38975201 38975201 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:38975201G>A uc002rqz.2 - 5 798 c.560C>T c.(559-561)TCG>TTG p.S187L SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.S187L NM_001031684 NP_001026854 Q16629 SRSF7_HUMAN splicing factor, arginine/serine-rich 7 187 6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding 0 all_hematologic(82;0.248) GAAATACCTCGATCCTTTTAT 0.388 NA 10 49 0 0 0.008291 0 0 ABCG8 64241 broad.mit.edu 37 2 44102542 44102542 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:44102542C>G uc002rtq.2 + 11 1836 c.1746C>G c.(1744-1746)AGC>AGG p.S582R ABCG8_uc010yoa.1_Missense_Mutation_p.S581R NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 582 Helical; Name=5; (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACTTGAGCAGCCTGTGGACAG 0.577 NA 8 43 0 0 0.00308 0 0 PSME4 23198 broad.mit.edu 37 2 54133777 54133777 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:54133777C>T uc002rxp.2 - 26 2957 c.2901G>A c.(2899-2901)ATG>ATA p.M967I PSME4_uc010yop.1_Missense_Mutation_p.M853I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.M342I|PSME4_uc010fbv.1_Missense_Mutation_p.M111I NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 967 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GATCTCTGATCATATCTTGAT 0.353 NA 20 88 0 0 0.001882 0 0 SPTBN1 6711 broad.mit.edu 37 2 54872392 54872392 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:54872392G>T uc002rxu.2 + 21 4545 c.4296G>T c.(4294-4296)CGG>CGT p.R1432R SPTBN1_uc002rxx.2_Silent_p.R1419R NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1432 Spectrin 11. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) TGGAAGTGCGGAAGAAGGAGA 0.562 NA 15 72 2.31682e-05 2.91954e-05 0.003163 1 0 CYP26B1 56603 broad.mit.edu 37 2 72362450 72362450 + Silent SNP G G C rs143775993 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:72362450G>C uc002sih.1 - 3 528 c.528C>G c.(526-528)CCC>CCG p.P176P CYP26B1_uc010yra.1_Silent_p.P159P|CYP26B1_uc010yrb.1_Silent_p.P101P NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 176 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 TGATGGCCTCGGGGTGGCTGC 0.627 NA 12 79 0 0 0.000978 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518123 84518123 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:84518123T>A uc010ffz.1 + 1 318 c.181T>A c.(181-183)TTT>ATT p.F61I NR_003663 RecName: Full=FUN14 domain-containing protein 2; AltName: Full=Hepatitis C virus core-binding protein 6; AltName: Full=Cervical cancer proto-oncogene 3 protein; Short=HCC-3; 0 GTGCACGGGTTTTATATTCCA 0.488 NA 27 155 0 0 0.00632 0 0 NMS 129521 broad.mit.edu 37 2 101097619 101097619 + Missense_Mutation SNP T T G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:101097619T>G uc002tan.1 + 8 411 c.404T>G c.(403-405)TTC>TGC p.F135C NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 135 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 CGACCCTTTTTCCTTTTCAGG 0.438 NA 34 114 0 0 0.003271 0 0 SLC9A4 389015 broad.mit.edu 37 2 103095489 103095489 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:103095489C>G uc002tbz.3 + 2 905 c.448C>G c.(448-450)CCC>GCC p.P150A NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 150 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GCCCACCCGGCCCTTCTTTGA 0.592 NA 7 42 0 0 0.00308 0 0 SULT1C2 6819 broad.mit.edu 37 2 108910141 108910141 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:108910141C>A uc002tdy.2 + 2 471 c.18C>A c.(16-18)GAC>GAA p.D6E SULT1C2_uc010ywp.1_5'UTR|SULT1C2_uc002tdx.2_Missense_Mutation_p.D6E|SULT1C2_uc010ywq.1_Missense_Mutation_p.D6E NM_001056 NP_001047 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 1 6 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity ovary(1) 1 TGACCTCAGACCTGGGGAAAC 0.443 NA 14 54 2.32078e-09 3.60249e-09 0.003163 1 0 IL1F9 56300 broad.mit.edu 37 2 113737597 113737597 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:113737597G>T uc002tio.1 + 4 241 c.172G>T c.(172-174)GTT>TTT p.V58F IL1F9_uc010fkr.1_Missense_Mutation_p.V23F NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN interleukin 1 family, member 9 58 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 CACTGTTGCTGTTATCACATG 0.413 Esophageal Squamous(44;715 981 6239 42838 46707) NA 5 92 1.06961e-07 1.54449e-07 0.00308 1 0 MARCO 8685 broad.mit.edu 37 2 119735461 119735461 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:119735461C>G uc002tln.1 + 8 848 c.716C>G c.(715-717)CCA>CGA p.P239R MARCO_uc010yyf.1_Missense_Mutation_p.P161R NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 239 Collagen-like.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 CTCATTGGCCCAAAAGGGGAA 0.592 GBM(8;18 374 7467 11269 32796) NA 5 17 0 0 0.001168 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175026 125175026 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:125175026G>A uc002tno.2 + 4 752 c.388G>A c.(388-390)GCA>ACA p.A130T CNTNAP5_uc010flu.2_Missense_Mutation_p.A130T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 130 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GCAGACCTTTGCAGGAAACAT 0.488 NA 7 24 0 0 0.00308 0 0 GPR148 344561 broad.mit.edu 37 2 131487397 131487397 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:131487397C>G uc002trv.1 + 1 675 c.673C>G c.(673-675)CTG>GTG p.L225V NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 225 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) CACCTCCATTCTGTGCGTTCT 0.562 NA 10 87 0 0 0.001855 0 0 FAM123C 205147 broad.mit.edu 37 2 131520863 131520863 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:131520863C>A uc002trw.2 + 2 1408 c.1218C>A c.(1216-1218)GGC>GGA p.G406G FAM123C_uc010fmv.2_Silent_p.G406G|FAM123C_uc010fms.1_Silent_p.G406G|FAM123C_uc010fmt.1_Silent_p.G406G|FAM123C_uc010fmu.1_Silent_p.G406G NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 406 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) AGAGCCCAGGCACTCCTGCCG 0.622 NA 7 49 0.00198382 0.0022658 0.001984 1 0 FAM123C 205147 broad.mit.edu 37 2 131521085 131521085 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:131521085C>A uc002trw.2 + 2 1630 c.1440C>A c.(1438-1440)AGC>AGA p.S480R FAM123C_uc010fmv.2_Missense_Mutation_p.S480R|FAM123C_uc010fms.1_Missense_Mutation_p.S480R|FAM123C_uc010fmt.1_Missense_Mutation_p.S480R|FAM123C_uc010fmu.1_Missense_Mutation_p.S480R NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 480 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) ACCTGCTCAGCCAGGGCTTCC 0.652 NA 3 28 0.00909568 0.00997167 0.009096 1 0 POTEE 445582 broad.mit.edu 37 2 132021450 132021450 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:132021450G>C uc002tsn.2 + 15 2474 c.2422G>C c.(2422-2424)GCC>CCC p.A808P PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.A408P|POTEE_uc002tsl.2_Missense_Mutation_p.A390P|POTEE_uc010fmy.1_Missense_Mutation_p.A272P NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 808 Actin-like. ATP binding 0 GCTGACCGAGGCCCCCCTGAA 0.597 NA 33 136 0 0 0.005524 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489455 133489455 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:133489455G>T uc002ttp.2 - 17 5672 c.5298C>A c.(5296-5298)GCC>GCA p.A1766A NCKAP5_uc002ttq.2_Silent_p.A447A NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1766 protein binding 0 CAAGGGTTTGGGCTCTCATGG 0.592 NA 8 81 0.000157383 0.000188254 0.00308 1 0 YSK4 80122 broad.mit.edu 37 2 135745227 135745227 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:135745227G>T uc002tue.1 - 7 1246 c.1215C>A c.(1213-1215)AGC>AGA p.S405R YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S292R|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.S133R|YSK4_uc002tui.3_Missense_Mutation_p.S422R NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 405 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CTTCATCCTGGCTTGGAGTTA 0.348 NA 18 88 5.03518e-11 8.14936e-11 0.007413 1 0 R3HDM1 23518 broad.mit.edu 37 2 136393668 136393668 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:136393668G>T uc002tuo.2 + 11 1188 c.818G>T c.(817-819)CGT>CTT p.R273L R3HDM1_uc010fni.2_Missense_Mutation_p.R271L|R3HDM1_uc002tup.2_Missense_Mutation_p.R217L|R3HDM1_uc010zbh.1_Missense_Mutation_p.R105L NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 273 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) ATGAGAATACGTTTGAAAGAT 0.353 NA 31 84 1.39806e-14 2.51945e-14 0.008361 1 0 LCT 3938 broad.mit.edu 37 2 136569890 136569890 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:136569890C>A uc002tuu.1 - 7 2355 c.2344G>T c.(2344-2346)GTG>TTG p.V782L NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 782 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CCCTTGAGCACCTCATTGATA 0.408 NA 8 118 2.17888e-05 2.75588e-05 0.006214 1 0 LRP1B 53353 broad.mit.edu 37 2 141055532 141055532 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:141055532G>C uc002tvj.1 - 84 13784 c.12812C>G c.(12811-12813)CCC>CGC p.P4271R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4271 Extracellular (Potential).|EGF-like 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCTGCAGGTGGGTCTCCCTAT 0.343 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 11 137 0 0 0.000978 0 0 KYNU 8942 broad.mit.edu 37 2 143718199 143718199 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:143718199G>C uc002tvl.2 + 8 719 c.589G>C c.(589-591)GAA>CAA p.E197Q KYNU_uc002tvk.2_Missense_Mutation_p.E197Q|KYNU_uc010fnm.2_Missense_Mutation_p.E197Q NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 197 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTAGGGGGAAGAAACCTTAAG 0.383 NA 13 55 0 0 0.003163 0 0 PKP4 8502 broad.mit.edu 37 2 159537118 159537118 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:159537118G>A uc002tzv.2 + 22 3768 c.3508G>A c.(3508-3510)GAC>AAC p.D1170N PKP4_uc002tzw.2_Missense_Mutation_p.D1127N|PKP4_uc002tzx.2_Missense_Mutation_p.D827N|PKP4_uc002uaa.2_Missense_Mutation_p.D979N|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.D351N|PKP4_uc002uad.2_RNA NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 1170 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 AAATTATGTAGACTTTTATTC 0.418 NA HNSCC(62;0.18) 5 137 0 0 0.000602 0 0 BAZ2B 29994 broad.mit.edu 37 2 160295207 160295207 + Splice_Site SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:160295207C>A uc002uao.2 - 8 1253 c.901_splice c.e8-1 p.V301_splice BAZ2B_uc002uap.2_Splice_Site_p.V299_splice|BAZ2B_uc002uas.1_Splice_Site_p.V238_splice|BAZ2B_uc002uau.1_Intron|BAZ2B_uc002uaq.1_Splice_Site_p.V229_splice|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Intron NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 GTAATAGCACCTAGATATAAA 0.373 NA 29 125 1.7881e-09 2.7883e-09 0.008361 1 0 SLC4A10 57282 broad.mit.edu 37 2 162719434 162719434 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:162719434C>T uc002ubx.3 + 6 812 c.628C>T c.(628-630)CGC>TGC p.R210C SLC4A10_uc010fpa.1_Missense_Mutation_p.R222C|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R210C|SLC4A10_uc010zcs.1_Missense_Mutation_p.R221C NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 210 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TGAAGATGTACGCCATAGGGT 0.438 NA 4 23 0 0 0.009096 0 0 XIRP2 129446 broad.mit.edu 37 2 167760202 167760202 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:167760202G>T uc002udx.2 + 1 228 c.210G>T c.(208-210)ATG>ATT p.M70I XIRP2_uc010fpn.2_Missense_Mutation_p.M70I|XIRP2_uc010fpo.2_Missense_Mutation_p.M70I|XIRP2_uc010fpp.2_Missense_Mutation_p.M70I NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GGGAAGAGATGTGGAGTTCGA 0.512 NA 7 37 0.00198382 0.0022658 0.001984 1 0 XIRP2 129446 broad.mit.edu 37 2 168102003 168102003 + Silent SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:168102003T>A uc002udx.2 + 8 4119 c.4101T>A c.(4099-4101)ACT>ACA p.T1367T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T1192T|XIRP2_uc010fpq.2_Silent_p.T1145T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1192 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AATCAGAAACTGTGTATGTTA 0.368 NA 25 65 0 0 0.00278 0 0 LRP2 4036 broad.mit.edu 37 2 169995821 169995821 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:169995821G>A uc002ues.2 - 74 13541 c.13328C>T c.(13327-13329)GCA>GTA p.A4443V NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4443 Helical; (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GAAGAATCCTGCAATTGCCAG 0.483 NA 9 60 0 0 0.006214 0 0 LRP2 4036 broad.mit.edu 37 2 170094605 170094605 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:170094605C>G uc002ues.2 - 27 4715 c.4502G>C c.(4501-4503)AGA>ACA p.R1501T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1501 LDL-receptor class B 10.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACTTACCACTCTTCTGTCCGT 0.443 NA 3 39 0 0 0.004672 0 0 UBR3 130507 broad.mit.edu 37 2 170863539 170863539 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:170863539G>T uc010zdi.1 + 28 4069 c.4069G>T c.(4069-4071)GAA>TAA p.E1357* UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Nonsense_Mutation_p.E178*|UBR3_uc002uft.3_Nonsense_Mutation_p.E210*|UBR3_uc010zdj.1_Nonsense_Mutation_p.E19* NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 1357 RING-type; degenerate. sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 GGACAAAGGAGAATTCACGTG 0.403 NA 23 48 4.26978e-12 7.1829e-12 0.00333 1 0 ITGA6 3655 broad.mit.edu 37 2 173352049 173352049 + Silent SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:173352049A>T uc002uhp.1 + 15 2231 c.2028A>T c.(2026-2028)ATA>ATT p.I676I ITGA6_uc010zdy.1_Silent_p.I557I|ITGA6_uc002uho.1_Silent_p.I676I|ITGA6_uc010fqm.1_Silent_p.I322I NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 715 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CTTTAGAAATAACAGTGACAA 0.388 NA 20 61 0 0 0.007413 0 0 SCRN3 79634 broad.mit.edu 37 2 175263030 175263030 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:175263030G>T uc002uiq.2 + 2 107 c.19G>T c.(19-21)GAC>TAC p.D7Y CIR1_uc002uim.2_5'Flank|CIR1_uc002uin.2_5'Flank|CIR1_uc002uio.2_5'Flank|CIR1_uc002uip.2_5'Flank|SCRN3_uc010zen.1_Intron|SCRN3_uc010zeo.1_5'UTR|SCRN3_uc002uir.1_RNA NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 7 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) TTTTTCCTGTGACACTTTCGT 0.279 NA 10 61 6.40141e-05 7.90626e-05 0.000978 1 0 TTN 7273 broad.mit.edu 37 2 179582757 179582757 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:179582757C>A uc010zfg.1 - 83 21468 c.21244G>T c.(21244-21246)GTG>TTG p.V7082L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V3743L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8009 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) CTGTGATCCACTTTGTTGATT 0.403 NA 21 117 2.39187e-15 4.38652e-15 0.008871 1 0 NCKAP1 10787 broad.mit.edu 37 2 183867758 183867758 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:183867758C>G uc002upc.2 - 4 715 c.313G>C c.(313-315)GAC>CAC p.D105H NCKAP1_uc002upb.2_Missense_Mutation_p.D111H NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 105 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CAAACATGGTCCTGAAAAGAA 0.289 NA 5 38 0 0 0.000602 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187692860 187692860 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:187692860T>C uc002upu.1 - 9 1793 c.1753A>G c.(1753-1755)ACA>GCA p.T585A NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 585 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AGTTTAGCTGTGCTCCAATTG 0.373 NA 6 61 0 0 0.001168 0 0 ABCA12 26154 broad.mit.edu 37 2 215815684 215815684 + Silent SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:215815684A>G uc002vew.2 - 45 6991 c.6771T>C c.(6769-6771)TAT>TAC p.Y2257Y ABCA12_uc002vev.2_Silent_p.Y1939Y|ABCA12_uc010zjn.1_Silent_p.Y1184Y NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2257 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTGTGAGACAATAAAGTTGGA 0.413 Ovarian(66;664 1488 5121 34295) NA 39 103 0 0 0.004878 0 0 SPEG 10290 broad.mit.edu 37 2 220315884 220315884 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:220315884G>C uc010fwg.2 + 5 2140 c.2140G>C c.(2140-2142)GCT>CCT p.A714P SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 714 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.V712_P722del(1) stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTACGTGTCCGCTGGAGAAGA 0.587 NA 12 120 0 0 0.001368 0 0 SPEG 10290 broad.mit.edu 37 2 220332025 220332025 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:220332025G>T uc010fwg.2 + 10 3011 c.3011G>T c.(3010-3012)CGT>CTT p.R1004L NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1004 Ig-like 4. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGCTGTGCCGTGGCCGCCTG 0.627 NA 16 64 6.72482e-11 1.08072e-10 0.003163 1 0 KCNE4 23704 broad.mit.edu 37 2 223917945 223917945 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:223917945G>C uc002vnl.3 + 2 551 c.397G>C c.(397-399)GAC>CAC p.D133H NM_080671 NP_542402 Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related 133 Cytoplasmic (Potential). integral to membrane voltage-gated potassium channel activity ovary(1) 1 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) CTCCTCCCCGGACGTGCACCT 0.642 NA 5 33 0 0 0.000602 0 0 CUL3 8452 broad.mit.edu 37 2 225422432 225422432 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:225422432C>G uc002vny.2 - 2 592 c.208G>C c.(208-210)GGA>CGA p.G70R CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Missense_Mutation_p.G76R NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 70 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) AGCTTTTCTCCATGTTTATGC 0.333 NA 3 27 0 0 0.004672 0 0 SP110 3431 broad.mit.edu 37 2 231042313 231042313 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:231042313C>A uc002vqh.3 - 14 1771 c.1531G>T c.(1531-1533)GCA>TCA p.A511S SP110_uc002vqg.3_Missense_Mutation_p.A511S|SP110_uc002vqi.3_Missense_Mutation_p.A511S|SP110_uc010fxk.2_Missense_Mutation_p.A509S|SP110_uc010fxj.2_Missense_Mutation_p.A154S NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 511 SAND. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CAGTTCTTTGCGTTCCTTCCT 0.428 NA 40 233 5.71845e-15 1.036e-14 0.005524 1 0 UGT1A4 54657 broad.mit.edu 37 2 234628155 234628155 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:234628155C>T uc002vux.2 + 1 718 c.689C>T c.(688-690)CCT>CTT p.P230L UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.P230L NM_007120 NP_009051 P22310 UD14_HUMAN UDP glycosyltransferase 1 family, polypeptide A4 230 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831) TTTTCTGCCCCTTATGCAAGT 0.488 Melanoma(99;1011 1962 13201 26492) NA 47 194 0 0 0.00361 0 0 GPCPD1 56261 broad.mit.edu 37 20 5566906 5566906 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:5566906C>A uc002wme.3 - 5 454 c.241G>T c.(241-243)GGT>TGT p.G81C GPCPD1_uc002wmd.3_5'Flank NM_019593 NP_062539 Q9NPB8 GPCP1_HUMAN hypothetical protein LOC56261 81 CBM20. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity 0 TGACATGGACCACCGATAGTC 0.373 NA 27 124 1.26454e-06 1.73779e-06 0.005443 1 0 C20orf186 149954 broad.mit.edu 37 20 31695558 31695558 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:31695558G>T uc010zue.1 + 15 1768 c.1753G>T c.(1753-1755)GGT>TGT p.G585C NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 585 cytoplasm|extracellular region lipid binding 0 AGCTGTGCTGGGTTCTGGCGT 0.468 NA 8 38 7.48243e-07 1.03872e-06 0.006214 1 0 PHF20 51230 broad.mit.edu 37 20 34519200 34519200 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:34519200G>T uc002xek.1 + 15 2245 c.2134G>T c.(2134-2136)GAC>TAC p.D712Y NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) GTACTGGTATGACAAGGAGTG 0.512 NA 11 44 1.08611e-07 1.55843e-07 0.000978 1 0 BPI 671 broad.mit.edu 37 20 36952318 36952318 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:36952318C>A uc002xib.2 + 8 877 c.815C>A c.(814-816)CCA>CAA p.P272Q NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 272 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) CCCTTTGCTCCACCAGTGATG 0.527 NA 12 49 4.3838e-07 6.16077e-07 0.001855 1 0 FAM83D 81610 broad.mit.edu 37 20 37570728 37570728 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:37570728G>T uc002xjg.2 + 2 741 c.700G>T c.(700-702)GAT>TAT p.D234Y FAM83D_uc002xjf.2_Missense_Mutation_p.D234Y NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 204 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) TCAATTTCTGGATATGTGCAT 0.428 NA 14 120 1.15088e-07 1.64445e-07 0.004007 1 0 FAM83D 81610 broad.mit.edu 37 20 37576645 37576645 + Splice_Site SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:37576645T>A uc002xjg.2 + 3 907 c.866_splice c.e3+2 p.S289_splice NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) CTCCTACAGGTAAGTCTCTAA 0.433 NA 15 60 0 0 0.003163 0 0 PTPRT 11122 broad.mit.edu 37 20 41419856 41419856 + Silent SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:41419856A>T uc002xkg.2 - 3 649 c.465T>A c.(463-465)ACT>ACA p.T155T PTPRT_uc010ggj.2_Silent_p.T155T NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 155 Extracellular (Potential).|MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGGCCAGAAAGTGCTGATGG 0.483 NA 7 145 0 0 0.001984 0 0 ZNF334 55713 broad.mit.edu 37 20 45130201 45130201 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:45130201T>C uc002xsc.2 - 5 1961 c.1777A>G c.(1777-1779)ACT>GCT p.T593A ZNF334_uc002xsa.2_Missense_Mutation_p.T616A|ZNF334_uc002xsb.2_Missense_Mutation_p.T555A|ZNF334_uc002xsd.2_Missense_Mutation_p.T555A|ZNF334_uc010ghl.2_Missense_Mutation_p.T592A NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 593 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) CCAGTGTGAGTTCGCTGATGT 0.438 NA 32 132 0 0 0.002096 0 0 TH1L 51497 broad.mit.edu 37 20 57561906 57561906 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:57561906C>G uc002yag.2 + 3 328 c.301C>G c.(301-303)CTC>GTC p.L101V TH1L_uc010zzu.1_Missense_Mutation_p.L101V|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.L101V NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 101 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) GGCCGAGTGGCTCATTCAGAC 0.483 NA 26 70 0 0 0.005443 0 0 LAMA5 3911 broad.mit.edu 37 20 60891003 60891003 + Splice_Site SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:60891003C>A uc002ycq.2 - 58 7934 c.7867_splice c.e58+1 p.D2623_splice NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCCGCATACCTGTGTCCAT 0.667 NA 6 8 3.59834e-05 4.47662e-05 0.001168 1 0 SLCO4A1 28231 broad.mit.edu 37 20 61303108 61303108 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:61303108G>T uc002ydb.1 + 12 2237 c.2032G>T c.(2032-2034)GGC>TGC p.G678C SLCO4A1_uc002ydc.1_Intron|SLCO4A1_uc002yde.1_Missense_Mutation_p.G80C NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 678 Helical; Name=12; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CCAGGTGCTGGGCGTCCTCTT 0.627 Pancreas(168;741 2006 10379 40139 45334) NA 31 138 1.22384e-17 2.3414e-17 0.002836 1 0 NKAIN4 128414 broad.mit.edu 37 20 61873917 61873917 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:61873917G>T uc002yek.2 - 6 681 c.591C>A c.(589-591)TCC>TCA p.S197S NM_152864 NP_690603 Q8IVV8 NKAI4_HUMAN Na+/K+ transporting ATPase interacting 4 197 integral to membrane|plasma membrane 0 all_cancers(38;2.72e-09) ACAAGAGACTGGATGGCTTTT 0.473 NA 35 195 4.40578e-31 9.37428e-31 0.00623 1 0 HSPA13 6782 broad.mit.edu 37 21 15746076 15746076 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr21:15746076G>A uc002yjt.2 - 5 1347 c.1278C>T c.(1276-1278)CCC>CCT p.P426P HSPA13_uc011abx.1_Silent_p.P218P NM_006948 NP_008879 P48723 HSP13_HUMAN heat shock protein 70kDa family member 13 426 endoplasmic reticulum|microsome ATP binding kidney(1) 1 CAGATGTGTTGGGATCTTTTC 0.483 NA 14 56 0 0 0.00245 0 0 NCAM2 4685 broad.mit.edu 37 21 22710708 22710708 + Splice_Site SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr21:22710708G>A uc002yld.1 + 8 1148 c.899_splice c.e8-1 p.V300_splice NCAM2_uc011acb.1_Splice_Site_p.V158_splice|NCAM2_uc011acc.1_Splice_Site_p.V325_splice NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ATTCTTTACAGTACAGCCTCA 0.358 NA 9 37 0 0 0.000978 0 0 TIAM1 7074 broad.mit.edu 37 21 32513751 32513751 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr21:32513751C>T uc002yow.1 - 22 4019 c.3547G>A c.(3547-3549)GAG>AAG p.E1183K TIAM1_uc011adk.1_Missense_Mutation_p.E1183K|TIAM1_uc011adl.1_Missense_Mutation_p.E1123K NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1183 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 AGGTACGACTCCAGCGTGGAT 0.572 NA 30 83 0 0 0.002445 0 0 SFRS15 57466 broad.mit.edu 37 21 33043759 33043759 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr21:33043759C>A uc002ypd.2 - 20 3823 c.3397G>T c.(3397-3399)GTT>TTT p.V1133F SFRS15_uc002ype.2_Missense_Mutation_p.V1111F|SFRS15_uc010glu.2_Missense_Mutation_p.V1118F NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 1133 nucleus nucleotide binding|RNA binding 0 TCGGGTTCAACGGATGAGGTA 0.498 NA 17 53 4.14922e-12 7.01464e-12 0.004007 1 0 POTEH 23784 broad.mit.edu 37 22 16267078 16267078 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr22:16267078C>T uc010gqp.2 - 9 1423 c.1371G>A c.(1369-1371)AAG>AAA p.K457K POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Silent_p.K176K|POTEH_uc002zlj.1_Silent_p.K292K NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 457 skin(1) 1 TTCCGTGCTTCTTCATTTCTT 0.358 NA 11 385 0 0 0.001855 0 0 PRAME 23532 broad.mit.edu 37 22 22890900 22890900 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr22:22890900C>T uc002zwf.2 - 5 1275 c.1119G>A c.(1117-1119)CTG>CTA p.L373L LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.L357L|PRAME_uc010gtr.2_Silent_p.L373L|PRAME_uc002zwg.2_Silent_p.L373L|PRAME_uc002zwh.2_Silent_p.L373L|PRAME_uc002zwi.2_Silent_p.L373L|PRAME_uc002zwj.2_Silent_p.L373L|PRAME_uc002zwk.2_Silent_p.L373L NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 373 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) AGGCTCTCTCCAGCAGAGCTT 0.592 Melanoma(73;1707 1838 15168 27201) NA 43 72 0 0 0.002522 0 0 MYO18B 84700 broad.mit.edu 37 22 26299729 26299729 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr22:26299729G>T uc003abz.1 + 31 5329 c.5079G>T c.(5077-5079)TTG>TTT p.L1693F MYO18B_uc003aca.1_Missense_Mutation_p.L1574F|MYO18B_uc010guy.1_Missense_Mutation_p.L1575F|MYO18B_uc010guz.1_Missense_Mutation_p.L1573F|MYO18B_uc011aka.1_Missense_Mutation_p.L847F|MYO18B_uc011akb.1_Missense_Mutation_p.L1206F NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1693 Potential.|Tail.|Gln-rich. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TCTGGAAGTTGGAATCCAGCG 0.557 NA 5 13 1.23904e-05 1.59673e-05 0.000602 1 0 ASPHD2 57168 broad.mit.edu 37 22 26830260 26830260 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr22:26830260G>A uc003acg.2 + 2 1076 c.679G>A c.(679-681)GAG>AAG p.E227K NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 227 Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity ovary(1) 1 CCCCAGCGGGGAGTGGTTCAC 0.542 NA 8 86 0 0 0.004482 0 0 OSBP2 23762 broad.mit.edu 37 22 31091455 31091455 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr22:31091455G>T uc003aiy.1 + 1 663 c.559G>T c.(559-561)GGC>TGC p.G187C OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.G187C|OSBP2_uc011alb.1_Missense_Mutation_p.G187C|OSBP2_uc003aiz.1_Missense_Mutation_p.G187C NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 187 PH. lipid transport membrane lipid binding breast(1)|skin(1) 2 CAGCTTCGAGGGCTGGCTTCT 0.597 NA 13 63 3.27435e-08 4.81979e-08 0.00245 1 0 MIOX 55586 broad.mit.edu 37 22 50925850 50925850 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr22:50925850G>T uc003bll.1 + 2 166 c.52G>T c.(52-54)GAC>TAC p.D18Y MIOX_uc003blm.1_Missense_Mutation_p.D18Y|MIOX_uc003bln.1_Missense_Mutation_p.D18Y NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 18 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACCTGATGTGGACCCAGAGGT 0.597 NA 7 42 5.18039e-06 6.89709e-06 0.00308 1 0 NUP210 23225 broad.mit.edu 37 3 13368843 13368843 + Missense_Mutation SNP C C A rs61751581 byFrequency TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:13368843C>A uc003bxv.1 - 32 4464 c.4381G>T c.(4381-4383)GCA>TCA p.A1461S NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1461 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GGGTGCTCTGCGTCCCACACA 0.642 NA 6 28 8.12818e-05 9.89581e-05 0.001984 1 0 ZNF385D 79750 broad.mit.edu 37 3 21706379 21706379 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:21706379G>T uc003cce.2 - 2 572 c.164C>A c.(163-165)GCG>GAG p.A55E ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 55 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GGTACTTACCGCATTGAAATT 0.473 NA 13 86 1.05317e-09 1.6536e-09 0.00245 1 0 NR1D2 9975 broad.mit.edu 37 3 24001260 24001260 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:24001260G>C uc003ccs.2 + 4 790 c.471G>C c.(469-471)CAG>CAC p.Q157H NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.Q82H NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 157 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 ACAGATGTCAGCAATGTCGCT 0.378 NA 18 99 0 0 0.008871 0 0 SLC4A7 9497 broad.mit.edu 37 3 27473031 27473031 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:27473031G>A uc003cdv.2 - 7 952 c.881C>T c.(880-882)CCT>CTT p.P294L SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_Intron|SLC4A7_uc003cdu.3_Intron|SLC4A7_uc011aww.1_Missense_Mutation_p.P303L|SLC4A7_uc011awx.1_Missense_Mutation_p.P290L|SLC4A7_uc011awy.1_Missense_Mutation_p.P286L|SLC4A7_uc011awz.1_Intron|SLC4A7_uc011axa.1_Intron|SLC4A7_uc011axb.1_Missense_Mutation_p.P290L|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdw.2_Intron NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 294 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 TGAGCCTGCAGGGGTTCCAGC 0.512 NA 14 65 0 0 0.001855 0 0 ARPP21 10777 broad.mit.edu 37 3 35723305 35723305 + Missense_Mutation SNP C C T rs139626582 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:35723305C>T uc003cgb.2 + 3 326 c.62C>T c.(61-63)ACG>ATG p.T21M ARPP21_uc003cga.2_Missense_Mutation_p.T21M|ARPP21_uc011axy.1_Missense_Mutation_p.T21M|ARPP21_uc003cfz.2_RNA|ARPP21_uc003cgc.2_Missense_Mutation_p.T21M|ARPP21_uc003cgd.2_Missense_Mutation_p.T21M|ARPP21_uc011axx.1_RNA|ARPP21_uc003cge.2_Missense_Mutation_p.T21M NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 21 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GAGCAGGAGACGGCCACTCCA 0.468 NA 7 27 0 0 0.001984 0 0 TRANK1 9881 broad.mit.edu 37 3 36898278 36898278 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:36898278T>C uc003cgj.2 - 3 1455 c.1153A>G c.(1153-1155)AAA>GAA p.K385E NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 935 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 ACTTGGCCTTTATTGATACCT 0.498 NA 15 96 0 0 0.004007 0 0 CCR8 1237 broad.mit.edu 37 3 39373851 39373851 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:39373851C>A uc010hhr.2 + 2 167 c.29C>A c.(28-30)ACA>AAA p.T10K CCR8_uc003cjm.2_5'UTR NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 10 Extracellular (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) CTCAGTGTGACAACAGTGACC 0.408 NA 16 81 3.99206e-14 7.13763e-14 0.007413 1 0 NKTR 4820 broad.mit.edu 37 3 42679196 42679196 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:42679196G>A uc003clo.2 + 13 2147 c.2000G>A c.(1999-2001)AGA>AAA p.R667K NKTR_uc003clm.1_Missense_Mutation_p.R414K|NKTR_uc003clp.2_Missense_Mutation_p.R414K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R557K|NKTR_uc003clr.1_Missense_Mutation_p.R414K|NKTR_uc003cls.2_Missense_Mutation_p.R367K NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 667 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) TACCATAAAAGAGAAAAAAAT 0.378 NA 10 76 0 0 0.006214 0 0 RBM6 10180 broad.mit.edu 37 3 50036934 50036934 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:50036934G>A uc003cyc.2 + 6 1678 c.1545G>A c.(1543-1545)ATG>ATA p.M515I RBM6_uc011bdh.1_Intron|RBM6_uc010hlc.1_Missense_Mutation_p.M34I|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 515 RRM. RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TCGGATGCATGGAGGCCAACC 0.433 NA 16 95 0 0 0.00499 0 0 RBM6 10180 broad.mit.edu 37 3 50112758 50112758 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:50112758G>T uc003cyc.2 + 20 3374 c.3241G>T c.(3241-3243)GAG>TAG p.E1081* RBM6_uc003cyd.2_Nonsense_Mutation_p.E559*|RBM6_uc003cye.2_Nonsense_Mutation_p.E559*|RBM6_uc011bdi.1_Nonsense_Mutation_p.E423*|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 1081 G-patch. RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GGCTTCATCAGAGGAGGTAAA 0.483 NA 7 69 1.06961e-07 1.54449e-07 0.00308 1 0 DOCK3 1795 broad.mit.edu 37 3 51264742 51264742 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:51264742C>T uc011bds.1 + 16 1429 c.1406C>T c.(1405-1407)CCA>CTA p.P469L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 469 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TCAGGAGAGCCAAATAGGAGT 0.468 NA 21 135 0 0 0.002299 0 0 RAD54L2 23132 broad.mit.edu 37 3 51690031 51690031 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:51690031G>T uc011bdt.1 + 19 3196 c.3071G>T c.(3070-3072)CGT>CTT p.R1024L RAD54L2_uc003dbh.2_Missense_Mutation_p.R613L|RAD54L2_uc011bdu.1_Missense_Mutation_p.R718L|RAD54L2_uc003dbj.2_Missense_Mutation_p.R350L NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 1024 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GCCAGTGTTCGTCCTGTGCAG 0.507 NA 24 123 5.45024e-15 9.9003e-15 0.00333 1 0 PXK 54899 broad.mit.edu 37 3 58385031 58385031 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:58385031G>T uc003djz.1 + 12 1207 c.1108G>T c.(1108-1110)GTG>TTG p.V370L PXK_uc003djx.1_Missense_Mutation_p.V370L|PXK_uc003djy.1_Missense_Mutation_p.V353L|PXK_uc003dka.1_Missense_Mutation_p.V370L|PXK_uc003dkb.1_Missense_Mutation_p.V287L|PXK_uc003dkc.1_Missense_Mutation_p.V353L|PXK_uc011bfe.1_Missense_Mutation_p.V337L|PXK_uc010hnj.1_Missense_Mutation_p.V337L|PXK_uc003dkd.1_Missense_Mutation_p.V233L|PXK_uc010hnk.1_Missense_Mutation_p.V144L NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 370 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) TCAAGTGGCCGTGTTGGAGTC 0.438 NA 6 31 3.59834e-05 4.47662e-05 0.001168 1 0 CADPS 8618 broad.mit.edu 37 3 62636563 62636563 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:62636563G>T uc003dll.2 - 5 1522 c.1162C>A c.(1162-1164)CAG>AAG p.Q388K CADPS_uc003dlm.2_Missense_Mutation_p.Q388K|CADPS_uc003dln.2_Missense_Mutation_p.Q388K NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 388 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TTGGAGAGCTGGTTCTCACTC 0.517 NA 8 52 1.76689e-08 2.62345e-08 0.006214 1 0 KBTBD8 84541 broad.mit.edu 37 3 67054223 67054223 + Nonsense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:67054223C>T uc003dmy.2 + 3 885 c.832C>T c.(832-834)CAG>TAG p.Q278* KBTBD8_uc011bfv.1_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN T-cell activation kelch repeat protein 278 ovary(2)|large_intestine(1)|breast(1) 4 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) TGGCTGTACACAGAGGCTTGG 0.428 NA 23 101 0 0 0.00333 0 0 FAM86D 692099 broad.mit.edu 37 3 75476773 75476773 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:75476773C>T uc003dpp.3 - 6 651 c.292G>A c.(292-294)GCA>ACA p.A98T FAM86D_uc003dpo.3_Intron|FAM86D_uc003dps.3_Intron|FAM86D_uc003dpq.3_Missense_Mutation_p.A6T|FAM86D_uc003dpr.3_Intron NR_024241 RecName: Full=Protein FAM86B1; 0 AAGATGAATGCCCGGGGGCGG 0.587 NA 8 32 0 0 0.00308 0 0 CLDND1 56650 broad.mit.edu 37 3 98237790 98237790 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:98237790C>A uc003dsp.2 - 3 1222 c.342G>T c.(340-342)CAG>CAT p.Q114H CLDND1_uc003dso.2_Missense_Mutation_p.Q114H|CLDND1_uc003dsq.2_Missense_Mutation_p.Q114H|CLDND1_uc003dss.2_Missense_Mutation_p.Q114H|CLDND1_uc003dsr.2_Missense_Mutation_p.Q19H|CLDND1_uc003dst.2_Missense_Mutation_p.Q137H|CLDND1_uc003dsu.2_Missense_Mutation_p.Q114H|CLDND1_uc003dsv.2_Missense_Mutation_p.Q114H NM_019895 NP_063948 Q9NY35 CLDN1_HUMAN claudin domain containing 1 protein isoform a 114 integral to membrane ovary(1) 1 TCTCCATGAACTGCTCAGTTA 0.388 NA 5 33 5.18039e-06 6.89709e-06 0.00308 1 0 FAM55C 91775 broad.mit.edu 37 3 101540739 101540739 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:101540739G>T uc003dvn.2 + 8 2258 c.1621G>T c.(1621-1623)GTT>TTT p.V541F FAM55C_uc010hpn.2_Missense_Mutation_p.V541F NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 541 extracellular region ovary(1)|pancreas(1)|skin(1) 3 TCCAGATGAAGTTATTGTGAA 0.498 NA 18 77 8.00594e-06 1.05561e-05 0.007413 1 0 C3orf1 51300 broad.mit.edu 37 3 119236073 119236073 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:119236073G>A uc003ecn.2 + 6 831 c.618G>A c.(616-618)CTG>CTA p.L206L C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 206 Helical; (Potential). integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) GAGGCCTGCTGATGGCATTTC 0.453 NA 5 76 0 0 0.001168 0 0 ARGFX 503582 broad.mit.edu 37 3 121289635 121289635 + Silent SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:121289635G>C uc003eef.2 + 2 170 c.75G>C c.(73-75)GTG>GTC p.V25V NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 25 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(114;0.152) ACATGAAGGTGATACCACCAC 0.463 NA 6 88 0 0 0.001168 0 0 FBXO40 51725 broad.mit.edu 37 3 121341065 121341065 + Silent SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:121341065T>C uc003eeg.2 + 3 999 c.789T>C c.(787-789)GCT>GCC p.A263A NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 263 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) GAGAGGGCGCTCCCAAAAAGA 0.483 NA 10 34 0 0 0.006214 0 0 GOLGB1 2804 broad.mit.edu 37 3 121413027 121413027 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:121413027C>T uc003eei.3 - 13 6454 c.6328G>A c.(6328-6330)GAA>AAA p.E2110K GOLGB1_uc010hrc.2_Missense_Mutation_p.E2115K|GOLGB1_uc003eej.3_Missense_Mutation_p.E2076K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1996K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E2074K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2110 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTAACTGATTCTTTATTTGAC 0.403 NA 11 195 0 0 0.001368 0 0 ADCY5 111 broad.mit.edu 37 3 123049747 123049747 + Silent SNP G G T rs144214981 byFrequency TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:123049747G>T uc003egh.1 - 5 1635 c.1635C>A c.(1633-1635)ATC>ATA p.I545I ADCY5_uc003egg.1_Silent_p.I178I|ADCY5_uc003egi.1_Silent_p.I104I NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 545 Guanylate cyclase 1.|Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) AGATGGCCTCGATCATGTCCA 0.602 NA 8 25 2.17888e-05 2.75588e-05 0.006214 1 0 RAB43 339122 broad.mit.edu 37 3 128852984 128852984 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:128852984C>T uc003elo.1 - 9 807 c.596G>A c.(595-597)AGA>AAA p.R199K ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Missense_Mutation_p.R199K|ISY1_uc010hta.1_Missense_Mutation_p.R221K NM_020701 NP_065752 Q86YS6 RAB43_HUMAN ISY1 splicing factor homolog Error:Variant_position_missing_in_Q86YS6_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding lung(1) 1 ctTTTCTCCTCTTGCCAGCCG 0.433 NA 8 75 0 0 0.004482 0 0 EPHB1 2047 broad.mit.edu 37 3 134968224 134968224 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:134968224T>A uc003eqt.2 + 15 2957 c.2737T>A c.(2737-2739)TTT>ATT p.F913I EPHB1_uc003equ.2_Missense_Mutation_p.F474I NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 913 Cytoplasmic (Potential).|SAM. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CTTCACGGCCTTTACCACCGT 0.587 NA 14 50 0 0 0.00245 0 0 MSL2 55167 broad.mit.edu 37 3 135870369 135870369 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:135870369C>A uc003eqx.1 - 2 2087 c.1354G>T c.(1354-1356)GTG>TTG p.V452L MSL2_uc011bmb.1_Missense_Mutation_p.V378L NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 452 Lys-rich. histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 TTTTTGTACACAGTCTTGGTA 0.428 NA 16 104 2.35188e-11 3.87069e-11 0.006122 1 0 STAG1 10274 broad.mit.edu 37 3 136141303 136141303 + Missense_Mutation SNP A A C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:136141303A>C uc003era.1 - 19 2278 c.1986T>G c.(1984-1986)ATT>ATG p.I662M STAG1_uc003erb.1_Missense_Mutation_p.I662M|STAG1_uc003erc.1_Missense_Mutation_p.I436M|STAG1_uc010hua.1_Missense_Mutation_p.I525M NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 662 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 CAAACTCATCAATCAGCTGGC 0.358 NA 22 72 0 0 0.001882 0 0 SLC9A9 285195 broad.mit.edu 37 3 143082363 143082363 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:143082363C>A uc003evn.2 - 14 1749 c.1567G>T c.(1567-1569)GCT>TCT p.A523S NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 523 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 AAGAGCCGAGCACTCTCTGCT 0.373 NA 19 80 4.35082e-09 6.69281e-09 0.010504 1 0 SLC9A9 285195 broad.mit.edu 37 3 143292936 143292936 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:143292936G>T uc003evn.2 - 8 1176 c.994C>A c.(994-996)CTA>ATA p.L332I NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 332 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 TGACCTGTTAGGCCGGCAGCC 0.537 NA 14 41 2.23348e-06 3.00289e-06 0.004007 1 0 MFSD1 64747 broad.mit.edu 37 3 158537491 158537491 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:158537491G>T uc003fcl.1 + 8 736 c.706G>T c.(706-708)GAT>TAT p.D236Y MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.D139Y|MFSD1_uc011bow.1_Missense_Mutation_p.D197Y|MFSD1_uc011box.1_Missense_Mutation_p.D163Y NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 236 transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGCCTACTTGGATCAGAGAGC 0.353 Pancreas(62;1186 1654 36636 37908) NA 10 42 1.58986e-06 2.1588e-06 0.008291 1 0 SI 6476 broad.mit.edu 37 3 164766935 164766935 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:164766935G>C uc003fei.2 - 15 1757 c.1695C>G c.(1693-1695)AGC>AGG p.S565R NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 565 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTATAGCCATGCTGTATCCAT 0.328 NA HNSCC(35;0.089) 14 38 0 0 0.003163 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905951 164905951 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:164905951G>T uc003fej.3 - 2 3112 c.2668C>A c.(2668-2670)CCA>ACA p.P890T SLITRK3_uc003fek.2_Missense_Mutation_p.P890T NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 890 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GCAGGCTGTGGCCTCTCTCGA 0.562 NA HNSCC(40;0.11) 13 62 5.50884e-06 7.29174e-06 0.001368 1 0 PLD1 5337 broad.mit.edu 37 3 171426597 171426597 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:171426597C>A uc003fhs.2 - 11 1209 c.1093G>T c.(1093-1095)GTG>TTG p.V365L PLD1_uc003fht.2_Missense_Mutation_p.V365L NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 365 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GCATTTGCCACATCTTCAAAA 0.318 NSCLC(149;2174 3517 34058) NA 15 62 1.67942e-08 2.51544e-08 0.006122 1 0 RTP1 132112 broad.mit.edu 37 3 186917596 186917596 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:186917596T>A uc003frg.2 + 2 560 c.530T>A c.(529-531)GTG>GAG p.V177E NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 177 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CGCATCCACGTGGCCAGCCGC 0.672 NA 9 23 0 0 0.006214 0 0 MASP1 5648 broad.mit.edu 37 3 186980341 186980341 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:186980341G>T uc003frh.1 - 3 737 c.405C>A c.(403-405)TAC>TAA p.Y135* MASP1_uc003fri.2_Nonsense_Mutation_p.Y135*|MASP1_uc003frj.2_Nonsense_Mutation_p.Y104*|MASP1_uc003frk.1_Nonsense_Mutation_p.Y135*|MASP1_uc011bse.1_Nonsense_Mutation_p.Y109* NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 135 Interaction with FCN2.|Interaction with MBL2.|Homodimerization (By similarity).|CUB 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CCACAGCCATGTAGTGGGCAT 0.498 NA 12 45 3.07112e-06 4.10484e-06 0.000978 1 0 TP63 8626 broad.mit.edu 37 3 189612219 189612219 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr3:189612219G>T uc003fry.2 + 14 2060 c.1971G>T c.(1969-1971)GAG>GAT p.E657D TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.E563D|TP63_uc003fsd.2_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.E478D NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 657 Transactivation inhibition. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCCGAGATGAGTGGAATGACT 0.552 NA Hay-Wells_syndrome HNSCC(45;0.13) 21 70 7.45023e-12 1.24718e-11 0.010504 1 0 CTBP1 1487 broad.mit.edu 37 4 1206751 1206751 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:1206751G>A uc003gcv.1 - 8 1254 c.1089C>T c.(1087-1089)GCC>GCT p.A363A uc003gcs.1_Intron|CTBP1_uc003gct.1_Silent_p.A344A|CTBP1_uc003gcu.1_Silent_p.A352A|CTBP1_uc003gcw.2_Silent_p.A37A NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 363 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GGTCCATGCTGGCCCAGTGGG 0.647 NA 11 56 0 0 0.003163 0 0 LETM1 3954 broad.mit.edu 37 4 1834499 1834499 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:1834499C>T uc003gdv.2 - 6 1349 c.1052G>A c.(1051-1053)CGG>CAG p.R351Q NM_012318 NP_036450 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane 351 Mitochondrial matrix (Potential).|LETM1. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding central_nervous_system(1) 1 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) GGAGCGCAGCCGCATGGTAAG 0.517 NA 14 63 0 0 0.004007 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306941 2306941 + Nonsense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:2306941C>A uc003gex.1 - 8 1445 c.1126G>T c.(1126-1128)GAG>TAG p.E376* ZFYVE28_uc011bvk.1_Nonsense_Mutation_p.E306*|ZFYVE28_uc011bvl.1_Nonsense_Mutation_p.E346*|ZFYVE28_uc003gew.1_Nonsense_Mutation_p.E262* NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 376 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GGGCTGCCCTCCGCTCCTGGC 0.672 NA 5 45 0.00116845 0.00134126 0.001168 1 0 CYTL1 54360 broad.mit.edu 37 4 5018685 5018685 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:5018685A>T uc003gig.2 - 3 230 c.205T>A c.(205-207)TGT>AGT p.C69S NM_018659 NP_061129 Q9NRR1 CYTL1_HUMAN cytokine-like 1 precursor 69 signal transduction extracellular space|soluble fraction receptor binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) TCCAGCACACAGTAATTCTGG 0.557 Colon(15;457 478 29696 43408 47165) NA 20 97 0 0 0.008871 0 0 DRD5 1816 broad.mit.edu 37 4 9784157 9784157 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:9784157C>A uc003gmb.3 + 1 900 c.504C>A c.(502-504)TCC>TCA p.S168S NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 168 Helical; Name=4; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GGACCTTGTCCATCCTCATCT 0.632 NA 4 37 1.23904e-05 1.59673e-05 0.000602 1 0 DRD5 1816 broad.mit.edu 37 4 9784743 9784743 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:9784743G>T uc003gmb.3 + 1 1486 c.1090G>T c.(1090-1092)GAC>TAC p.D364Y NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 364 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CTTCAACGCCGACTTTCAGAA 0.592 NA 16 50 1.15088e-07 1.64445e-07 0.004007 1 0 BOD1L 259282 broad.mit.edu 37 4 13606600 13606600 + Missense_Mutation SNP C C T rs151278291 byFrequency TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:13606600C>T uc003gmz.1 - 10 2041 c.1924G>A c.(1924-1926)GAC>AAC p.D642N BOD1L_uc010idr.1_5'UTR NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 642 Lys-rich. DNA binding ovary(5)|breast(1) 6 TTGTTTTCGTCAACTACATGC 0.398 NA 25 61 0 0 0.00333 0 0 BST1 683 broad.mit.edu 37 4 15707203 15707203 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:15707203T>A uc003goh.3 + 2 449 c.254T>A c.(253-255)GTG>GAG p.V85E NM_004334 NP_004325 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 precursor 85 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1) 1 CCCTGCTCCGTGCTGCCCTCA 0.473 NA 16 80 0 0 0.004007 0 0 LDB2 9079 broad.mit.edu 37 4 16587550 16587550 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:16587550G>T uc003goz.2 - 5 926 c.610C>A c.(610-612)CTC>ATC p.L204I LDB2_uc003gpa.2_Missense_Mutation_p.L204I|LDB2_uc003gpb.2_Missense_Mutation_p.L204I|LDB2_uc011bxh.1_Intron|LDB2_uc010iee.2_Missense_Mutation_p.L204I|LDB2_uc003goy.2_Missense_Mutation_p.L80I|LDB2_uc011bxi.1_Missense_Mutation_p.L80I NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 204 LIM domain binding|transcription cofactor activity 0 CTTACCCTGAGGTAGTTGAGG 0.408 NA 13 67 2.68362e-12 4.54817e-12 0.001368 1 0 SLIT2 9353 broad.mit.edu 37 4 20525799 20525799 + Silent SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:20525799A>T uc003gpr.1 + 14 1641 c.1437A>T c.(1435-1437)TCA>TCT p.S479S SLIT2_uc003gps.1_Silent_p.S479S NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 479 LRRCT 2. 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 TCCGTTGTTCAGGTAATTTCT 0.478 NA 24 88 0 0 0.002299 0 0 PCDH7 5099 broad.mit.edu 37 4 30726008 30726008 + Silent SNP C C A rs148242685 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:30726008C>A uc003gsk.1 + 1 3972 c.2964C>A c.(2962-2964)GGC>GGA p.G988G PCDH7_uc011bxw.1_Silent_p.G941G|PCDH7_uc011bxx.1_Silent_p.G988G NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 988 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GTGGGCCCGGCAGTCCTGACC 0.517 NA 8 63 0.00307968 0.00347099 0.00308 1 0 TLR1 7096 broad.mit.edu 37 4 38798817 38798817 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:38798817C>A uc003gtl.2 - 4 1910 c.1636G>T c.(1636-1638)GTG>TTG p.V546L NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 546 Extracellular (Potential).|LRRCT. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 CCCTCTAACACTTCACTTGAT 0.413 GBM(5;216 373 40795 46382) NA 58 301 2.93687e-30 6.21017e-30 0.00361 1 0 GABRG1 2565 broad.mit.edu 37 4 46053569 46053569 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:46053569G>T uc003gxb.2 - 8 1155 c.1003C>A c.(1003-1005)CTC>ATC p.L335I NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 335 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GAAACAAAGAGATCCATCGCA 0.383 NA 19 49 2.39187e-15 4.38652e-15 0.008871 1 0 USP46 64854 broad.mit.edu 37 4 53468093 53468093 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:53468093T>C uc003gzn.2 - 7 1035 c.850A>G c.(850-852)AAC>GAC p.N284D USP46_uc003gzm.3_Missense_Mutation_p.N277D|USP46_uc011bzr.1_Missense_Mutation_p.N261D|USP46_uc011bzs.1_Missense_Mutation_p.N168D NM_022832 NP_073743 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 isoform 1 284 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0295) CTGGAGGTGTTGAAGAGCCGG 0.542 NA 18 49 0 0 0.010504 0 0 PDGFRA 5156 broad.mit.edu 37 4 55155261 55155261 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:55155261C>A uc003han.3 + 21 3191 c.2860C>A c.(2860-2862)CTG>ATG p.L954M PDGFRA_uc003haa.2_Missense_Mutation_p.L714M NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 954 Protein kinase.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GGAGAATCTGCTGCCTGGACA 0.488 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 8 35 0.00307968 0.00347099 0.00308 1 0 LPHN3 23284 broad.mit.edu 37 4 62598770 62598770 + Missense_Mutation SNP T T G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:62598770T>G uc010ihh.2 + 5 866 c.693T>G c.(691-693)TTT>TTG p.F231L LPHN3_uc003hcq.3_Missense_Mutation_p.F231L|LPHN3_uc010ihg.1_Missense_Mutation_p.F299L|LPHN3_uc003hcs.1_Missense_Mutation_p.F60L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 231 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TAGTAAAGTTTGATTTGCGGA 0.463 NA 9 19 0 0 0.008291 0 0 EPHA5 2044 broad.mit.edu 37 4 66213899 66213899 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:66213899C>A uc003hcy.2 - 15 2724 c.2531G>T c.(2530-2532)TGG>TTG p.W844L EPHA5_uc003hcx.2_Missense_Mutation_p.W776L|EPHA5_uc003hcz.2_Missense_Mutation_p.W822L|EPHA5_uc011cah.1_Missense_Mutation_p.W845L|EPHA5_uc011cai.1_Missense_Mutation_p.W823L|EPHA5_uc003hda.2_Missense_Mutation_p.W845L NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 844 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TGGGGCAGTCCATCTGATTGG 0.393 NA TSP Lung(17;0.13) 8 78 1.12685e-05 1.46598e-05 0.004482 1 0 EPHA5 2044 broad.mit.edu 37 4 66467571 66467571 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:66467571C>G uc003hcy.2 - 3 891 c.698G>C c.(697-699)TGC>TCC p.C233S EPHA5_uc003hcx.2_Missense_Mutation_p.C164S|EPHA5_uc003hcz.2_Missense_Mutation_p.C233S|EPHA5_uc011cah.1_Missense_Mutation_p.C233S|EPHA5_uc011cai.1_Missense_Mutation_p.C233S|EPHA5_uc003hda.2_Missense_Mutation_p.C233S NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 233 Extracellular (Potential).|Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CACAGAAGGGCATTTTTTATA 0.448 NA TSP Lung(17;0.13) 14 25 0 0 0.00245 0 0 BMP2K 55589 broad.mit.edu 37 4 79832722 79832722 + Silent SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:79832722T>A uc003hlk.2 + 16 3187 c.3021T>A c.(3019-3021)ACT>ACA p.T1007T PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 1007 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 CAAAGAAGACTTTGAAGCCTA 0.493 NA 27 51 0 0 0.004656 0 0 COL25A1 84570 broad.mit.edu 37 4 109805343 109805343 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:109805343C>A uc003hze.1 - 18 1542 c.1011G>T c.(1009-1011)CCG>CCT p.P337P COL25A1_uc003hzg.2_Silent_p.P337P|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Silent_p.P118P NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 337 Extracellular (Potential).|Collagen-like 4. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCTTTATCCCCGGAAGTCCAG 0.408 NA 19 32 8.28177e-16 1.55397e-15 0.007413 1 0 ELOVL6 79071 broad.mit.edu 37 4 110980902 110980902 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:110980902C>T uc003hzz.2 - 4 356 c.230G>A c.(229-231)GGT>GAT p.G77D ELOVL6_uc003iaa.2_Missense_Mutation_p.G77D NM_001130721 NP_001124193 Q9H5J4 ELOV6_HUMAN elongation of very long chain fatty acids-like 77 Helical; (Potential). fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding haematopoietic_and_lymphoid_tissue(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00462) TCGAAGAGCACCGAATATACT 0.403 NA 6 22 0 0 0.001168 0 0 NAA15 80155 broad.mit.edu 37 4 140291517 140291518 + Missense_Mutation DNP GG GG AT TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:140291517_140291518GG>AT uc003ihu.1 + 15 2162_2163 c.1906_1907GG>AT c.(1906-1908)GGA>ATA p.G636I NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 636 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 tgaggagataggaggtccaaaa 0.183 NA 3 27 0 0 0.004672 0 0 FAT1 2195 broad.mit.edu 37 4 187541782 187541782 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr4:187541782C>T uc003izf.2 - 10 6146 c.5958G>A c.(5956-5958)GCG>GCA p.A1986A NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1986 Extracellular (Potential).|Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTTTCACTACCGCAGAGTAGA 0.438 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 63 172 0 0 0.00361 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5237092 5237092 + Missense_Mutation SNP A A C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:5237092A>C uc003jdl.2 + 14 2172 c.2034A>C c.(2032-2034)TTA>TTC p.L678F ADAMTS16_uc003jdk.1_Missense_Mutation_p.L678F|ADAMTS16_uc010itk.1_Intron NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 678 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ATCAGGACTTATGCAAACTCT 0.333 NA 66 73 0 0 0.00361 0 0 KIAA0947 23379 broad.mit.edu 37 5 5489358 5489358 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:5489358G>A uc003jdm.3 + 19 6938 c.6716G>A c.(6715-6717)CGG>CAG p.R2239Q NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2239 ovary(1)|central_nervous_system(1) 2 GAAGCTTGGCGGAGAGAGGCC 0.532 NA 3 47 0 0 0.004672 0 0 DNAH5 1767 broad.mit.edu 37 5 13823411 13823411 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:13823411C>A uc003jfd.2 - 40 6690 c.6648G>T c.(6646-6648)AAG>AAT p.K2216N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2216 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GGTAACCTGCCTTGTCCAGAA 0.388 NA Kartagener_syndrome 122 115 2.51472e-61 5.45256e-61 0.00361 1 0 CDH9 1007 broad.mit.edu 37 5 26902674 26902674 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:26902674G>T uc003jgs.1 - 7 1333 c.1164C>A c.(1162-1164)TAC>TAA p.Y388* NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 388 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CTTCTATCAAGTAAGAGACTT 0.393 Melanoma(8;187 585 15745 40864 52829) NA 7 195 0.000274275 0.000321873 0.004482 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33616054 33616054 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:33616054C>G uc003jia.1 - 15 2430 c.2267G>C c.(2266-2268)GGG>GCG p.G756A ADAMTS12_uc010iuq.1_Missense_Mutation_p.G671A NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 756 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GATAATAAACCCTCCATTCAG 0.478 NA HNSCC(64;0.19) 30 242 0 0 0.002445 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33649757 33649757 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:33649757C>A uc003jia.1 - 8 1399 c.1236G>T c.(1234-1236)GTG>GTT p.V412V ADAMTS12_uc010iuq.1_Silent_p.V412V NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 412 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GATGTCTGCCCACAGGCTCAC 0.547 NA HNSCC(64;0.19) 6 136 0.000157383 0.000188254 0.00308 1 0 DNAJC21 134218 broad.mit.edu 37 5 34937456 34937456 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:34937456G>T uc003jjc.2 + 5 691 c.464G>T c.(463-465)TGG>TTG p.W155L DNAJC21_uc003jjb.2_Missense_Mutation_p.W155L|DNAJC21_uc010iuu.1_Missense_Mutation_p.W39L NM_001012339 NP_001012339 Q5F1R6 DJC21_HUMAN DnaJ homology subfamily A member 5 isoform 2 155 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|skin(1) 2 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TACGCTTATTGGCAGAGTTTC 0.373 NA 11 107 2.80697e-09 4.34731e-09 0.000978 1 0 PRLR 5618 broad.mit.edu 37 5 35066176 35066176 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:35066176G>T uc003jjm.2 - 10 1414 c.884C>A c.(883-885)GCC>GAC p.A295D PRLR_uc003jjg.1_Missense_Mutation_p.A295D|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.A194D NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 295 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GCATCCCAAGGCACTCAGTAG 0.438 NA 6 71 2.0095e-06 2.71242e-06 0.001984 1 0 SPEF2 79925 broad.mit.edu 37 5 35800100 35800100 + Nonsense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:35800100A>T uc003jjo.2 + 34 4972 c.4861A>T c.(4861-4863)AAG>TAG p.K1621* SPEF2_uc003jjp.1_Nonsense_Mutation_p.K1107*|SPEF2_uc003jjr.2_Nonsense_Mutation_p.K676* NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1621 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) TGACTATGAGAAGGATCCACC 0.413 NA 21 540 0 0 0.00333 0 0 SLC1A3 6507 broad.mit.edu 37 5 36677170 36677170 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:36677170C>A uc003jkj.3 + 6 1220 c.744C>A c.(742-744)GTC>GTA p.V248V SLC1A3_uc011cox.1_Silent_p.V141V|SLC1A3_uc010iuy.2_Silent_p.V248V NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 248 Helical; (Potential). D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GTCTAGTTGTCTTCTCCATGT 0.498 NA 72 57 1.93348e-29 4.06327e-29 0.00361 1 0 C7 730 broad.mit.edu 37 5 40972553 40972553 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:40972553C>A uc003jmh.2 + 15 2045 c.1931C>A c.(1930-1932)CCC>CAC p.P644H C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 644 Sushi 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) CAGAGTCACCCCCAAAAACCT 0.448 NA 14 95 9.31168e-06 1.22305e-05 0.001855 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41038949 41038949 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:41038949G>T uc003jmj.3 - 21 2593 c.2103C>A c.(2101-2103)GTC>GTA p.V701V HEATR7B2_uc003jmi.3_Silent_p.V256V NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 701 binding ovary(6)|central_nervous_system(2) 8 AGATGACCATGACATCTGTCT 0.453 NA 8 96 0.00307968 0.00347099 0.00308 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41054884 41054884 + Silent SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:41054884A>T uc003jmj.3 - 11 1582 c.1092T>A c.(1090-1092)GGT>GGA p.G364G HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 364 binding ovary(6)|central_nervous_system(2) 8 TACTGAGATCACCCATGACGA 0.363 NA 23 150 0 0 0.004656 0 0 PLCXD3 345557 broad.mit.edu 37 5 41313735 41313735 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:41313735C>A uc003jmm.1 - 3 1052 c.950G>T c.(949-951)GGA>GTA p.G317V NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 317 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 GTTGGCTTCTCCTTCATCAAA 0.403 NA 24 119 1.42536e-11 2.35719e-11 0.004656 1 0 ANKRD55 79722 broad.mit.edu 37 5 55407117 55407117 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:55407117G>T uc003jqu.2 - 10 1610 c.1458C>A c.(1456-1458)TGC>TGA p.C486* ANKRD55_uc003jqt.2_Nonsense_Mutation_p.C198* NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 485 skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GTAACATCTGGCAGCCAGTTC 0.453 NA 50 128 6.14515e-18 1.18229e-17 0.00361 1 0 SV2C 22987 broad.mit.edu 37 5 75427578 75427578 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:75427578G>T uc003kei.1 + 2 137 c.3G>T c.(1-3)ATG>ATT p.M1I NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 1 Interaction with SYT1 (By similarity).|Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GAGATAAGATGGAAGACTCTT 0.443 NA 8 25 5.4927e-09 8.41147e-09 0.004482 1 0 DMGDH 29958 broad.mit.edu 37 5 78328549 78328549 + Missense_Mutation SNP G G T rs148916205 byFrequency TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:78328549G>T uc003kfs.2 - 9 1484 c.1478C>A c.(1477-1479)CCG>CAG p.P493Q DMGDH_uc011cte.1_Missense_Mutation_p.P343Q|DMGDH_uc011ctf.1_Missense_Mutation_p.P292Q|DMGDH_uc011ctg.1_Missense_Mutation_p.P113Q NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 493 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) GAACCAGTGCGGCTGCTCCCA 0.562 NA 48 119 2.29192e-23 4.60405e-23 0.00361 1 0 VCAN 1462 broad.mit.edu 37 5 82834365 82834365 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:82834365C>G uc003kii.3 + 8 5899 c.5543C>G c.(5542-5544)ACT>AGT p.T1848S VCAN_uc003kij.3_Missense_Mutation_p.T861S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T512S NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1848 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAAACCACCACTGTTTCTTCA 0.507 NA 40 129 0 0 0.007835 0 0 KCNN2 3781 broad.mit.edu 37 5 113831760 113831760 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:113831760G>T uc003kqo.2 + 8 2078 c.1621G>T c.(1621-1623)GAG>TAG p.E541* KCNN2_uc003kqp.2_Nonsense_Mutation_p.E193*|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 541 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AGATTTCATTGAGGCTCAGAT 0.552 NA 38 77 3.33393e-15 6.08844e-15 0.004878 1 0 PCDHB6 56130 broad.mit.edu 37 5 140530589 140530589 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:140530589C>T uc003lir.2 + 1 751 c.751C>T c.(751-753)CCT>TCT p.P251S PCDHB6_uc011dah.1_Missense_Mutation_p.P115S NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 251 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCACAAGTCCCTGAGAACAA 0.527 NA 7 40 0 0 0.001984 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572143 140572143 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:140572143G>T uc003lix.2 + 1 192 c.18G>T c.(16-18)TTG>TTT p.L6F NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 6 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAGAGAGTTGTGCTTCCCAA 0.478 NA 30 97 1.08312e-15 2.01572e-15 0.009535 1 0 PCDHB11 56125 broad.mit.edu 37 5 140580956 140580956 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:140580956G>A uc003liy.2 + 1 1609 c.1609G>A c.(1609-1611)GGC>AGC p.G537S PCDHB11_uc011daj.1_Missense_Mutation_p.G172S NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 537 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACAGACCGCGGCTCCCCGGC 0.672 NA 24 74 0 0 0.003954 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603183 140603183 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:140603183G>T uc003ljb.2 + 1 106 c.106G>T c.(106-108)GCA>TCA p.A36S PCDHB14_uc011dal.1_Intron NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 36 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATTCTGTGGCAGAGGAAAC 0.512 Ovarian(141;50 1831 27899 33809 37648) NA 14 34 0.000219431 0.000259743 0.00245 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140712430 140712430 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:140712430G>T uc003lji.1 + 1 2179 c.2179G>T c.(2179-2181)GCT>TCT p.A727S PCDHGA1_uc011dan.1_Missense_Mutation_p.A727S NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 727 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGCTACAGGCTTCGGGAGG 0.667 NA 22 75 1.96292e-10 3.14713e-10 0.010504 1 0 PCDHGB4 8641 broad.mit.edu 37 5 140769608 140769608 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:140769608C>T uc003lkc.1 + 1 2157 c.2157C>T c.(2155-2157)CCC>CCT p.P719P 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_uc011dav.1_Silent_p.P719P NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 719 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|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) CCTCCAGCCCCGCCTCCTGGA 0.562 NA 46 152 0 0 0.002852 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774427 140774427 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:140774427G>T uc003lkd.1 + 1 2945 c.2047G>T c.(2047-2049)GAC>TAC p.D683Y 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_uc003lkb.3_Missense_Mutation_p.D683Y NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 683 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) GCCTTCGGTCGACCCGAACGA 0.617 NA 7 17 2.0095e-06 2.71242e-06 0.001984 1 0 JAKMIP2 9832 broad.mit.edu 37 5 147027984 147027984 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:147027984T>A uc003loq.1 - 5 1273 c.891A>T c.(889-891)AAA>AAT p.K297N JAKMIP2_uc011dbx.1_Missense_Mutation_p.K255N|JAKMIP2_uc003lor.1_Missense_Mutation_p.K297N|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.K297N NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 297 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCTTCTAATTTTCTTATAG 0.308 NA 32 126 0 0 0.003271 0 0 SH3TC2 79628 broad.mit.edu 37 5 148408068 148408068 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:148408068C>T uc003lpu.2 - 11 1379 c.1227G>A c.(1225-1227)GAG>GAA p.E409E SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.E53E|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Silent_p.E402E|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Silent_p.E294E NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 409 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGATGCTCCTCCCAGGCTC 0.622 NA 11 43 0 0 0.001855 0 0 FAT2 2196 broad.mit.edu 37 5 150921889 150921889 + Silent SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:150921889A>T uc003lue.3 - 9 8812 c.8799T>A c.(8797-8799)GCT>GCA p.A2933A GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2933 Extracellular (Potential).|Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGAAATGTCAGCATCCAGGG 0.498 NA 41 124 0 0 0.007835 0 0 LARP1 23367 broad.mit.edu 37 5 154179189 154179189 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:154179189G>C uc003lvp.2 + 9 1845 c.1416G>C c.(1414-1416)GAG>GAC p.E472D LARP1_uc003lvo.2_Missense_Mutation_p.E395D|LARP1_uc010jie.1_Missense_Mutation_p.E267D NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 472 HTH La-type RNA-binding. protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCGTTGATGAGAAAGTTCGTA 0.473 NA 10 105 0 0 0.000978 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533689 156533689 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:156533689G>C uc003lwk.1 - 2 487 c.343C>G c.(343-345)CCA>GCA p.P115A HAVCR2_uc003lwl.2_Missense_Mutation_p.P115A NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 115 Ig-like V-type.|Extracellular (Potential). integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATTATGCCTGGGATTTGGATC 0.428 NA 6 99 0 0 0.001168 0 0 ODZ2 57451 broad.mit.edu 37 5 167653121 167653121 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:167653121G>A uc010jjd.2 + 24 5110 c.5110G>A c.(5110-5112)GTG>ATG p.V1704M ODZ2_uc003lzr.3_Missense_Mutation_p.V1474M|ODZ2_uc003lzt.3_Missense_Mutation_p.V1077M|ODZ2_uc010jje.2_Missense_Mutation_p.V968M NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CCTGACCAACGTGACGCGCCC 0.527 NA 4 37 0 0 0.009096 0 0 CDHR2 54825 broad.mit.edu 37 5 176003034 176003034 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr5:176003034G>T uc003mem.1 + 12 1108 c.1042G>T c.(1042-1044)GAC>TAC p.D348Y CDHR2_uc003men.1_Missense_Mutation_p.D348Y NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 348 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GGACGTCAATGACCACAAACC 0.577 NA 10 25 1.58986e-06 2.1588e-06 0.008291 1 0 BMP6 654 broad.mit.edu 37 6 7862687 7862687 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:7862687G>C uc003mxu.3 + 4 1338 c.1160G>C c.(1159-1161)CGC>CCC p.R387P NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 387 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) AGTCGTAATCGCTCTACCCAG 0.592 NA 4 69 0 0 0.000602 0 0 GCM2 9247 broad.mit.edu 37 6 10874470 10874470 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:10874470G>T uc003mzn.3 - 5 1351 c.1279C>A c.(1279-1281)CCA>ACA p.P427T SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 427 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) CAGGGTTCTGGATAGACAGAC 0.552 NA 9 39 2.17888e-05 2.75588e-05 0.006214 1 0 KIF13A 63971 broad.mit.edu 37 6 17781518 17781518 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:17781518C>A uc003ncg.3 - 30 3664 c.3559G>T c.(3559-3561)GCC>TCC p.A1187S KIF13A_uc003ncf.2_Missense_Mutation_p.A1174S|KIF13A_uc003nch.3_Missense_Mutation_p.A1187S|KIF13A_uc003nci.3_Missense_Mutation_p.A1174S|KIF13A_uc003nce.1_5'Flank NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1187 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TGCTCATTGGCACTGAGGTCA 0.463 NA 7 51 7.48243e-07 1.03872e-06 0.006214 1 0 SLC17A4 10050 broad.mit.edu 37 6 25777124 25777124 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:25777124C>T uc003nfe.2 + 10 1324 c.1205C>T c.(1204-1206)TCT>TTT p.S402F SLC17A4_uc011djx.1_Missense_Mutation_p.S172F|SLC17A4_uc003nff.1_Missense_Mutation_p.S191F|SLC17A4_uc003nfg.2_Missense_Mutation_p.S339F|SLC17A4_uc010jqa.2_Intron NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 402 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 TTGGTGCTGTCTTCTGCCATC 0.537 NA 26 103 0 0 0.004656 0 0 SLC17A4 10050 broad.mit.edu 37 6 25779404 25779404 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:25779404C>A uc003nfe.2 + 12 1601 c.1482C>A c.(1480-1482)TTC>TTA p.F494L SLC17A4_uc011djx.1_Missense_Mutation_p.F264L|SLC17A4_uc003nfg.2_Missense_Mutation_p.F431L|SLC17A4_uc010jqa.2_3'UTR NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 494 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 AGCAGACATTCACCCACCTCT 0.473 NA 18 98 1.2644e-06 1.73779e-06 0.010504 1 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114507 27114507 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:27114507T>A uc003nix.1 - 1 113 c.71A>T c.(70-72)AAG>ATG p.K24M HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 24 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 GCCGTCCTTCTTCTGCGCCTT 0.602 NA 24 128 0 0 0.003954 0 0 HIST1H2BL 8340 broad.mit.edu 37 6 27775425 27775425 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:27775425C>G uc003njl.2 - 1 285 c.260G>C c.(259-261)CGC>CCC p.R87P HIST1H3H_uc003njm.2_5'Flank NM_003519 NP_003510 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 87 nucleosome assembly nucleosome|nucleus DNA binding 0 GATGGTCGAGCGCTTGTTGTA 0.632 NA 23 131 0 0 0.003954 0 0 OR2H1 26716 broad.mit.edu 37 6 29429716 29429716 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:29429716T>C uc003nmi.2 + 3 613 c.170T>C c.(169-171)ATG>ACG p.M57T OR2H1_uc003nmj.1_Missense_Mutation_p.M57T|OR2H1_uc010jri.1_Intron NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CACTCTCCAATGTACTTTTTC 0.517 NA 28 75 0 0 0.00632 0 0 OR2H2 7932 broad.mit.edu 37 6 29556084 29556084 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:29556084C>T uc003nmr.1 + 1 402 c.363C>T c.(361-363)TAC>TAT p.Y121Y GABBR1_uc003nmp.3_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, 121 Cytoplasmic (Potential). defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTGATCGCTACGTGGCTGTCT 0.577 NA 8 89 0 0 0.006214 0 0 CSNK2B 1460 broad.mit.edu 37 6 31638977 31638977 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:31638977G>T uc003nvs.1 + 7 942 c.602G>T c.(601-603)AGA>ATA p.R201I LY6G5B_uc003nvt.1_Missense_Mutation_p.D35Y NM_001320 NP_001311 P67870 CSK2B_HUMAN casein kinase 2, beta polypeptide Error:Variant_position_missing_in_P67870_after_alignment adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway cytosol|nucleus|protein kinase CK2 complex identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding 0 CCTCGTAGAAGACCCTTCTGT 0.537 NA 38 185 6.19805e-25 1.27125e-24 0.005524 1 0 HLA-DQB1 3119 broad.mit.edu 37 6 32629750 32629750 + Nonsense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:32629750C>A uc003obw.2 - 3 737 c.655G>T c.(655-657)GAG>TAG p.E219* HLA-DQB1_uc010juc.1_Nonsense_Mutation_p.E174*|HLA-DQB1_uc003obv.2_Nonsense_Mutation_p.E219*|HLA-DQB1_uc011dqd.1_Nonsense_Mutation_p.E219*|HLA-DQB1_uc011dqe.1_3'UTR NM_002123 NP_002114 P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ 219 Extracellular (Potential).|Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTACGCCACTCCACGGTGATG 0.537 Esophageal Squamous(151;720 1825 15000 40336 43415) NA Melanoma_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia|T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Sj_gren_syndrome 7 49 3.35478e-16 6.38248e-16 0.003163 1 0 ITPR3 3710 broad.mit.edu 37 6 33652441 33652441 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:33652441G>T uc011drk.1 + 38 5332 c.5113G>T c.(5113-5115)GAC>TAC p.D1705Y ITPR3_uc003oey.2_5'Flank NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 1705 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CTCGCGGGGGGACCTTCCCGA 0.642 NA 18 60 6.94344e-10 1.09524e-09 0.006122 1 0 PI16 221476 broad.mit.edu 37 6 36931029 36931029 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:36931029C>A uc003ona.2 + 5 1239 c.911C>A c.(910-912)CCA>CAA p.P304Q PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Missense_Mutation_p.P75Q NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 304 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 GATGAGGAGCCAGTTACCTTC 0.527 NA 18 43 1.00905e-13 1.78082e-13 0.008871 1 0 PIM1 5292 broad.mit.edu 37 6 37138394 37138394 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:37138394G>T uc003onk.2 + 1 473 c.43G>T c.(43-45)GCG>TCG p.A15S PIM1_uc011dtw.1_5'Flank NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 106 AP -> RA (in Ref. 2; AAA60089). cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) CCTGCGCGCCGCGCCCTGCAA 0.721 NA T BCL6 NHL 9 35 7.48243e-07 1.03872e-06 0.006214 1 0 PTK7 5754 broad.mit.edu 37 6 43098158 43098158 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:43098158G>A uc003oub.1 + 4 859 c.661G>A c.(661-663)GAT>AAT p.D221N PTK7_uc003ouc.1_Missense_Mutation_p.D221N|PTK7_uc003oud.1_Missense_Mutation_p.D221N|PTK7_uc003oue.1_Missense_Mutation_p.D221N|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_Intron|PTK7_uc011dve.1_Missense_Mutation_p.D229N|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.2_Missense_Mutation_p.D221N NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 221 Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GAGCATTGCTGGTGAGCCTGG 0.612 NA 3 43 0 0 0.004672 0 0 TMEM63B 55362 broad.mit.edu 37 6 44122119 44122119 + Silent SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:44122119A>T uc003owr.2 + 23 2308 c.2244A>T c.(2242-2244)ACA>ACT p.T748T TMEM63B_uc003ows.2_Silent_p.T651T|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 748 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) ACACGGAGACAGATACTGTGG 0.622 NA 18 66 0 0 0.00499 0 0 C6orf138 442213 broad.mit.edu 37 6 47846149 47846149 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:47846149G>T uc011dwm.1 - 3 2465 c.2380C>A c.(2380-2382)CCC>ACC p.P794T C6orf138_uc011dwn.1_Missense_Mutation_p.P558T NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 811 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TTGGAAGGGGGGAAAAACGTT 0.448 NA 18 90 3.41278e-10 5.40819e-10 0.00499 1 0 C6orf138 442213 broad.mit.edu 37 6 47847065 47847065 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:47847065G>T uc011dwm.1 - 3 1549 c.1464C>A c.(1462-1464)GCC>GCA p.A488A C6orf138_uc011dwn.1_Silent_p.A252A NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 505 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 GCTGAACCATGGCATAGGAAA 0.468 NA 9 25 1.12685e-05 1.46598e-05 0.004482 1 0 TFAP2D 83741 broad.mit.edu 37 6 50696992 50696992 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:50696992G>C uc003paf.2 + 5 1362 c.850G>C c.(850-852)GCT>CCT p.A284P TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 284 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) ACGGAAAGCAGCTAATGTCAC 0.428 NA 6 152 0 0 0.001984 0 0 PKHD1 5314 broad.mit.edu 37 6 51889991 51889991 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:51889991C>A uc003pah.1 - 32 4893 c.4617G>T c.(4615-4617)CAG>CAT p.Q1539H PKHD1_uc003pai.2_Missense_Mutation_p.Q1539H NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1539 Extracellular (Potential).|IPT/TIG 10. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AGTCTCTTGTCTGGCACACAA 0.443 NA 21 71 2.54575e-18 4.91171e-18 0.010504 1 0 COL9A1 1297 broad.mit.edu 37 6 71011744 71011744 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:71011744G>A uc003pfg.3 - 2 207 c.48C>T c.(46-48)TTC>TTT p.F16F NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 16 axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 AGGGTTCCAGGAAACTGCACA 0.448 NA 4 14 0 0 0.001168 0 0 CD109 135228 broad.mit.edu 37 6 74530266 74530266 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:74530266A>G uc003php.2 + 32 4566 c.4141A>G c.(4141-4143)ATA>GTA p.I1381V CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.I1364V|CD109_uc010kba.2_Missense_Mutation_p.I1304V NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 1381 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TTCAGTGTCCATAGTGGATTA 0.353 NA 13 42 0 0 0.00245 0 0 MRAP2 112609 broad.mit.edu 37 6 84765060 84765061 + Nonsense_Mutation DNP CT CT AA TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:84765060_84765061CT>AA uc003pkg.3 + 2 213_214 c.23_24CT>AA c.(22-24)TCT>TAA p.S8* MRAP2_uc010kbo.2_5'UTR NM_138409 NP_612418 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 8 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding skin(2) 2 AGGTTAATTTCTAACAGAACCT 0.431 NA 19 76 0 0 0.004672 0 0 HACE1 57531 broad.mit.edu 37 6 105192070 105192070 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:105192070C>T uc003pqu.1 - 22 2755 c.2478G>A c.(2476-2478)GAG>GAA p.E826E HACE1_uc010kcy.1_Silent_p.E308E|HACE1_uc010kcz.1_Silent_p.E611E|HACE1_uc010kcx.1_Silent_p.E235E|HACE1_uc003pqt.1_Silent_p.E479E NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 826 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) GAACTCTCTCCTCTTGAGTAA 0.343 NA 14 76 0 0 0.004007 0 0 C6orf182 285753 broad.mit.edu 37 6 109480491 109480491 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:109480491C>T uc010kdk.2 + 11 1419 c.842C>T c.(841-843)CCA>CTA p.P281L C6orf182_uc003psx.3_Missense_Mutation_p.P281L|C6orf182_uc010kdl.2_Missense_Mutation_p.P281L|C6orf182_uc003psy.3_Missense_Mutation_p.P281L NM_001083535 NP_001077004 Q8IYX8 CE57L_HUMAN hypothetical protein LOC285753 281 microtubule|microtubule organizing center 0 all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11) BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233) CATCGTGACCCACATATCCTT 0.418 NA 22 93 0 0 0.00333 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127989 117127989 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:117127989C>T uc003pxj.1 - 3 901 c.879G>A c.(877-879)ATG>ATA p.M293I GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.M293I NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 293 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TATTTATATTCATTTCAATGG 0.353 NA 5 94 0 0 0.000602 0 0 ROS1 6098 broad.mit.edu 37 6 117632220 117632220 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:117632220C>A uc003pxp.1 - 39 6395 c.6196G>T c.(6196-6198)GGC>TGC p.G2066C ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2066 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TAGACACAGCCTTTTGAAATA 0.378 NA T GOPC|ROS1 glioblastoma|NSCLC 14 67 3.45872e-05 4.3345e-05 0.004007 1 0 CLVS2 134829 broad.mit.edu 37 6 123332169 123332169 + Silent SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:123332169T>C uc003pzi.1 + 3 1298 c.429T>C c.(427-429)TCT>TCC p.S143S NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 143 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TCTTACTTTCTTTAGAAGCCA 0.393 NA 16 100 0 0 0.004007 0 0 LAMA2 3908 broad.mit.edu 37 6 129748969 129748969 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:129748969G>A uc003qbn.2 + 41 6043 c.5938G>A c.(5938-5940)GAA>AAA p.E1980K LAMA2_uc003qbo.2_Missense_Mutation_p.E1980K NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1980 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.E1980V(1) ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GATTCTTAACGAAGCCAAGAA 0.383 NA 8 96 0 0 0.00308 0 0 EYA4 2070 broad.mit.edu 37 6 133783546 133783546 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:133783546G>T uc003qec.3 + 8 969 c.511G>T c.(511-513)GGG>TGG p.G171W EYA4_uc011ecq.1_Missense_Mutation_p.G117W|EYA4_uc011ecr.1_Missense_Mutation_p.G117W|EYA4_uc003qed.3_Missense_Mutation_p.G171W|EYA4_uc003qee.3_Missense_Mutation_p.G148W|EYA4_uc011ecs.1_Missense_Mutation_p.G171W|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 171 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TCAGTATTCGGGGATGCAGCA 0.473 Melanoma(57;398 1237 3528 4702 7415) NA 29 100 1.39806e-14 2.51945e-14 0.008361 1 0 ECT2L 345930 broad.mit.edu 37 6 139170499 139170499 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:139170499C>A uc003qif.1 + 7 1100 c.997C>A c.(997-999)CTG>ATG p.L333M ECT2L_uc011edq.1_Missense_Mutation_p.L264M NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 333 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 AGAAAAAGCTCTGGATGGGCA 0.463 NA 18 71 9.7654e-05 0.000118679 0.007413 1 0 STX11 8676 broad.mit.edu 37 6 144508591 144508591 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:144508591G>T uc003qks.3 + 2 1019 c.827G>T c.(826-828)CGG>CTG p.R276L NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 276 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) AACCCCTGCCGGACCCTCTGC 0.657 NA Familial_Hemophagocytic_Lymphohistiocytosis 7 22 2.0095e-06 2.71242e-06 0.001984 1 0 FNDC1 84624 broad.mit.edu 37 6 159655446 159655446 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:159655446G>C uc010kjv.2 + 11 4102 c.3902G>C c.(3901-3903)AGG>ACG p.R1301T FNDC1_uc010kjw.1_Missense_Mutation_p.R1186T NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1301 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TTGCGCCAGAGGATGATGCAT 0.587 NA 4 35 0 0 0.000602 0 0 WTAP 9589 broad.mit.edu 37 6 160176510 160176510 + Nonsense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:160176510C>G uc003qsl.2 + 8 1280 c.1058C>G c.(1057-1059)TCA>TGA p.S353* WTAP_uc003qso.2_Nonsense_Mutation_p.S234* NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 353 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) ACACACCAATCAAATGACACA 0.502 NA 13 90 0 0 0.001368 0 0 LPA 4018 broad.mit.edu 37 6 160977168 160977168 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:160977168C>A uc003qtl.2 - 31 4982 c.4862G>T c.(4861-4863)GGC>GTC p.G1621V NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4129 Kringle 37. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ATAACTCTGGCCATTACCATG 0.488 NA 30 128 3.1745e-13 5.46141e-13 0.008361 1 0 TCP10L2 401285 broad.mit.edu 37 6 167591903 167591903 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:167591903C>G uc010kkp.2 + 5 661 c.530C>G c.(529-531)TCG>TGG p.S177W NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 177 0 AGAATTAACTCGGGGAAAACA 0.433 NA 6 45 0 0 0.004482 0 0 KIF25 3834 broad.mit.edu 37 6 168443325 168443325 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:168443325C>A uc003qwk.1 + 8 1176 c.914C>A c.(913-915)GCT>GAT p.A305D KIF25_uc003qwl.1_Intron NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 305 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GTCCTGGGGGCTTTGTTGGAG 0.652 NA 15 49 2.61681e-11 4.2758e-11 0.00245 1 0 CYP2W1 54905 broad.mit.edu 37 7 1027059 1027059 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:1027059C>A uc003sjq.1 + 7 1048 c.1035C>A c.(1033-1035)CCC>CCA p.P345P CYP2W1_uc003sjr.1_Silent_p.P345P NM_017781 NP_060251 Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, 345 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) AGGCTCTGCCCTACACAAGCG 0.721 NA 4 9 0.000602214 0.00070551 0.000602 1 0 DAGLB 221955 broad.mit.edu 37 7 6449644 6449644 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:6449644G>A uc003sqa.2 - 15 2013 c.1843C>T c.(1843-1845)CAC>TAC p.H615Y DAGLB_uc003spy.2_Missense_Mutation_p.H161Y|DAGLB_uc003spz.2_Missense_Mutation_p.H312Y|DAGLB_uc011jwt.1_Missense_Mutation_p.H429Y|DAGLB_uc011jwu.1_Missense_Mutation_p.H486Y|DAGLB_uc003sqb.2_Missense_Mutation_p.H334Y|DAGLB_uc003sqc.2_Missense_Mutation_p.H334Y|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.H574Y NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 615 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) GCGCTATAGTGAGCAGCAGAG 0.597 NA 5 66 0 0 0.001168 0 0 DGKB 1607 broad.mit.edu 37 7 14758281 14758281 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:14758281G>T uc003ssz.2 - 5 539 c.352C>A c.(352-354)CCT>ACT p.P118T DGKB_uc011jxt.1_Missense_Mutation_p.P111T|DGKB_uc003sta.2_Missense_Mutation_p.P118T|DGKB_uc011jxu.1_Missense_Mutation_p.P118T|DGKB_uc011jxv.1_Missense_Mutation_p.P118T NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 118 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) GTCCGGGGAGGGGTGATGGCA 0.383 NA 11 34 1.58986e-06 2.1588e-06 0.008291 1 0 HDAC9 9734 broad.mit.edu 37 7 18625115 18625115 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:18625115G>A uc003suh.2 + 2 275 c.234G>A c.(232-234)CAG>CAA p.Q78Q HDAC9_uc003sue.2_Silent_p.Q78Q|HDAC9_uc011jyd.1_Silent_p.Q78Q|HDAC9_uc003sui.2_Silent_p.Q78Q|HDAC9_uc003suj.2_Silent_p.Q78Q|HDAC9_uc011jya.1_Silent_p.Q119Q|HDAC9_uc003sua.1_Silent_p.Q97Q|HDAC9_uc011jyb.1_Silent_p.Q78Q|HDAC9_uc003sud.1_Silent_p.Q78Q|HDAC9_uc011jyc.1_Silent_p.Q78Q|HDAC9_uc003suf.1_Silent_p.Q106Q|HDAC9_uc010kud.1_Silent_p.Q78Q|HDAC9_uc011jye.1_Silent_p.Q47Q|HDAC9_uc011jyf.1_Silent_p.Q47Q NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 78 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TGACACGGCAGCACCAGGCTC 0.483 NA 8 35 0 0 0.006214 0 0 SP8 221833 broad.mit.edu 37 7 20825372 20825372 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:20825372C>A uc003suy.2 - 3 251 c.10G>T c.(10-12)GCT>TCT p.A4S SP8_uc003suz.2_Missense_Mutation_p.A22S NM_198956 NP_945194 Q8IXZ3 SP8_HUMAN Sp8 transcription factor isoform 2 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 TTACAGGTAGCGGCAAGCATG 0.627 NA 18 31 1.67942e-08 2.51544e-08 0.006122 1 0 CREB5 9586 broad.mit.edu 37 7 28848929 28848929 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:28848929G>A uc003szq.2 + 9 1542 c.1152G>A c.(1150-1152)CGG>CGA p.R384R CREB5_uc003szo.2_Silent_p.R351R|CREB5_uc003szr.2_Silent_p.R377R|CREB5_uc003szs.2_Silent_p.R245R NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 384 Basic motif. positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TTCTGGAACGGAACCGGGCAG 0.592 NA 13 49 0 0 0.001855 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909054 32909054 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:32909054T>A uc003tdb.2 - 4 2434 c.1775A>T c.(1774-1776)GAA>GTA p.E592V AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 592 0 GBM - Glioblastoma multiforme(11;0.0499) TGGAGACTCTTCAAGGCAGGA 0.483 NA 29 84 0 0 0.007291 0 0 DPY19L1 23333 broad.mit.edu 37 7 34971203 34971203 + Silent SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:34971203T>A uc003tem.3 - 22 2155 c.2010A>T c.(2008-2010)CTA>CTT p.L670L DPY19L1_uc003tel.1_RNA NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 670 integral to membrane 0 TTACAACTTCTAGGACTTTGT 0.413 NA 22 87 0 0 0.004656 0 0 ADCY1 107 broad.mit.edu 37 7 45650001 45650001 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:45650001G>T uc003tne.3 + 3 831 c.813G>T c.(811-813)CTG>CTT p.L271L ADCY1_uc003tnd.2_Silent_p.L46L NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 271 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGAGCCTCCTGCCCCGGAACG 0.592 NA 22 95 2.39556e-15 4.38652e-15 0.00278 1 0 SUN3 256979 broad.mit.edu 37 7 48026950 48026950 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:48026950C>A uc003tof.2 - 11 1148 c.1051G>T c.(1051-1053)GGC>TGC p.G351C SUN3_uc010kyq.2_Missense_Mutation_p.G263C|SUN3_uc003tog.2_Missense_Mutation_p.G351C|SUN3_uc011kcf.1_Missense_Mutation_p.G339C NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 351 SUN. integral to membrane central_nervous_system(1) 1 CCTGGTGTGCCATGGACCCTG 0.413 NA 32 146 6.97489e-18 1.33816e-17 0.004878 1 0 COBL 23242 broad.mit.edu 37 7 51095655 51095655 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:51095655G>A uc003tpr.3 - 10 3323 c.3138C>T c.(3136-3138)CAC>CAT p.H1046H COBL_uc003tps.2_Silent_p.H1103H|COBL_uc011kcl.1_Silent_p.H1046H|COBL_uc003tpp.3_Silent_p.H832H|COBL_uc003tpq.3_Silent_p.H987H|COBL_uc003tpo.3_Silent_p.H588H NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 1046 skin(3)|ovary(2) 5 Glioma(55;0.08) AAGGCTCGCCGTGGCCTGGGG 0.587 NSCLC(189;2119 2138 12223 30818 34679) NA 12 51 0 0 0.000978 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73927187 73927187 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:73927187G>T uc003uaq.2 + 3 544 c.151G>T c.(151-153)GAG>TAG p.E51* GTF2IRD1_uc010lbq.2_Nonsense_Mutation_p.E51*|GTF2IRD1_uc003uap.2_Nonsense_Mutation_p.E51*|GTF2IRD1_uc003uar.1_Nonsense_Mutation_p.E51* NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 51 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 ACTGAACGCCGAGGTGGCCTG 0.597 NA 7 44 8.12818e-05 9.89581e-05 0.001984 1 0 CACNA2D1 781 broad.mit.edu 37 7 81599236 81599236 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:81599236C>A uc003uhr.1 - 28 2525 c.2269G>T c.(2269-2271)GAT>TAT p.D757Y CACNA2D1_uc011kgy.1_Intron NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 769 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) TTATCATTATCTAGGCTCCTT 0.338 NA 15 62 2.23348e-06 3.00289e-06 0.004007 1 0 GRM3 2913 broad.mit.edu 37 7 86468419 86468419 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:86468419T>A uc003uid.2 + 4 2688 c.1589T>A c.(1588-1590)ATT>AAT p.I530N GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.I402N|GRM3_uc010leh.2_Missense_Mutation_p.I122N NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 530 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCTGCTGGATTTGCATCCCC 0.537 GBM(52;969 1098 3139 52280) NA 7 141 0 0 0.00308 0 0 CALCR 799 broad.mit.edu 37 7 93072917 93072917 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:93072917C>G uc003umv.1 - 10 1164 c.903G>C c.(901-903)TGG>TGC p.W301C CALCR_uc011kia.1_Missense_Mutation_p.W81C|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.W267C|CALCR_uc003umw.2_Missense_Mutation_p.W267C NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 283 Helical; Name=4; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) AATACATACCCCAGCCCAAGA 0.438 NA 12 53 0 0 0.000978 0 0 NPTX2 4885 broad.mit.edu 37 7 98254454 98254454 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:98254454C>A uc003upl.2 + 3 1041 c.864C>A c.(862-864)CCC>CCA p.P288P NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 288 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCAACAACCCCATCGAGCTGC 0.667 NA 11 57 1.08611e-07 1.55843e-07 0.000978 1 0 ZSCAN21 7589 broad.mit.edu 37 7 99654701 99654701 + Silent SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:99654701G>C uc003uso.2 + 2 216 c.72G>C c.(70-72)CTG>CTC p.L24L ZSCAN21_uc011kje.1_Silent_p.L23L|ZSCAN21_uc003usn.1_Silent_p.L23L NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN zinc finger protein 38 24 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TGGGGCCTCTGATGGTAAAAG 0.542 NA 8 247 0 0 0.00308 0 0 SERPINE1 5054 broad.mit.edu 37 7 100771685 100771685 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:100771685C>G uc003uxt.2 + 2 159 c.11C>G c.(10-12)TCT>TGT p.S4C SERPINE1_uc011kkj.1_Missense_Mutation_p.S4C NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 4 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) ATGCAGATGTCTCCAGCCCTC 0.622 NA 18 68 0 0 0.006122 0 0 SLC26A5 375611 broad.mit.edu 37 7 103051925 103051925 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:103051925C>G uc003vbz.2 - 6 748 c.512G>C c.(511-513)AGA>ACA p.R171T SLC26A5_uc003vbt.1_Missense_Mutation_p.R171T|SLC26A5_uc003vbu.1_Missense_Mutation_p.R171T|SLC26A5_uc003vbv.1_Missense_Mutation_p.R171T|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.R171T|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 171 Extracellular (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 CAAGGCATCTCTGGCCTCTGT 0.448 NA 31 77 0 0 0.009535 0 0 LAMB1 3912 broad.mit.edu 37 7 107564713 107564713 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:107564713A>T uc003vew.2 - 33 5521 c.5186T>A c.(5185-5187)CTT>CAT p.L1729H LAMB1_uc003vev.2_Missense_Mutation_p.L1753H|LAMB1_uc003veu.2_Missense_Mutation_p.L212H NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1729 Potential.|Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGAGCTAAAAGAGTTTTTGC 0.333 NA 16 74 0 0 0.008871 0 0 LAMB1 3912 broad.mit.edu 37 7 107626637 107626637 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:107626637G>C uc003vew.2 - 6 930 c.595C>G c.(595-597)CCC>GCC p.P199A LAMB1_uc003vev.2_Missense_Mutation_p.P223A|LAMB1_uc003vex.2_Missense_Mutation_p.P199A|LAMB1_uc010ljn.1_Missense_Mutation_p.P285A NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 199 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAGTTGAGGGTTCAATGTCA 0.393 NA 14 65 0 0 0.003163 0 0 C7orf60 154743 broad.mit.edu 37 7 112555434 112555434 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:112555434C>A uc003vgo.1 - 2 356 c.229G>T c.(229-231)GCA>TCA p.A77S C7orf60_uc011kms.1_Missense_Mutation_p.A103S NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 77 ovary(2)|skin(1) 3 TTTTTCATTGCAACGGCATAT 0.348 NA 18 70 3.41278e-10 5.40819e-10 0.00499 1 0 KCND2 3751 broad.mit.edu 37 7 120387741 120387741 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:120387741C>A uc003vjj.1 + 6 2687 c.1722C>A c.(1720-1722)TCC>TCA p.S574S NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 574 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TCAGCCGATCCAGTTTAAATG 0.313 NA 12 41 3.07112e-06 4.10484e-06 0.000978 1 0 C7orf58 79974 broad.mit.edu 37 7 120911459 120911459 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:120911459G>A uc003vjq.3 + 22 3290 c.2843G>A c.(2842-2844)GGG>GAG p.G948E NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 948 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) TTTCTACAGGGGAAGTGTGGA 0.323 NA 27 125 0 0 0.004656 0 0 C7orf58 79974 broad.mit.edu 37 7 120935692 120935692 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:120935692A>G uc003vjq.3 + 23 3514 c.3067A>G c.(3067-3069)AAA>GAA p.K1023E NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 1023 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GTGTGCAAATAAAAGGACTAT 0.483 NA 18 74 0 0 0.007413 0 0 LMOD2 442721 broad.mit.edu 37 7 123302771 123302771 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:123302771C>A uc003vky.2 + 2 1288 c.1131C>A c.(1129-1131)ACC>ACA p.T377T NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 377 cytoskeleton actin binding|tropomyosin binding 0 ATCTTAGGACCAAAGTCTGGC 0.468 NA 18 87 0.000132079 0.000159663 0.008871 1 0 AKR1B15 441282 broad.mit.edu 37 7 134260652 134260652 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:134260652G>T uc011kpr.1 + 8 1015 c.716G>T c.(715-717)AGC>ATC p.S239I AKR1B15_uc011kps.1_Missense_Mutation_p.S211I NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 239 NADP (By similarity). oxidoreductase activity ovary(1) 1 ACGGCCTACAGCCCCCTGGGC 0.483 NA 8 44 2.17888e-05 2.75588e-05 0.006214 1 0 CLCN1 1180 broad.mit.edu 37 7 143029957 143029957 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:143029957C>A uc003wcr.1 + 12 1479 c.1392C>A c.(1390-1392)TTC>TTA p.F464L CLCN1_uc011ktc.1_Intron NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 464 Helical; (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TTCTCTTCTTCGTCATGAAGG 0.502 NA 41 114 3.38236e-24 6.87545e-24 0.006999 1 0 TAS2R60 338398 broad.mit.edu 37 7 143141281 143141281 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:143141281C>G uc011ktg.1 + 1 736 c.736C>G c.(736-738)CTG>GTG p.L246V uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 246 Helical; Name=6; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) CATAAAGGCTCTGCTGGCTCT 0.478 NA 23 99 0 0 0.001882 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144059824 144059824 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:144059824G>T uc003wel.2 + 2 180 c.62G>T c.(61-63)AGC>ATC p.S21I ARHGEF5_uc003wek.2_Missense_Mutation_p.S21I NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 21 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) GAGGAATTCAGCATTATCCCT 0.532 NA 13 168 2.89027e-11 4.70013e-11 0.002299 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146741074 146741074 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:146741074C>A uc003weu.1 + 4 994 c.478C>A c.(478-480)CGC>AGC p.R160S NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 160 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCGCTATGTGCGCATAGTGCC 0.428 NA HNSCC(39;0.1) 32 105 2.81731e-10 4.49585e-10 0.002096 1 0 WDR86 349136 broad.mit.edu 37 7 151093213 151093213 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:151093213G>T uc003wkb.2 - 3 824 c.375C>A c.(373-375)GAC>GAA p.D125E WDR86_uc003wka.2_Missense_Mutation_p.D83E|WDR86_uc011kvk.1_Missense_Mutation_p.D125E|WDR86_uc003wkc.2_5'UTR NM_198285 NP_938026 Q86TI4 WDR86_HUMAN WD repeat domain 86 125 WD 3. 0 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTGCCCCTTGTCCACACTCC 0.652 NA 10 41 9.70103e-10 1.52668e-09 0.008291 1 0 DPP6 1804 broad.mit.edu 37 7 154237702 154237702 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:154237702C>A uc003wlk.2 + 4 672 c.543C>A c.(541-543)GGC>GGA p.G181G DPP6_uc003wli.2_Silent_p.G117G|DPP6_uc003wlj.2_Silent_p.G181G|DPP6_uc003wlm.2_Silent_p.G119G|DPP6_uc011kvq.1_Silent_p.G119G NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 181 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TAATAGAAGGCAAAAAAATTG 0.338 NSCLC(125;1384 1783 2490 7422 34254) NA 4 16 0.00909568 0.00997167 0.009096 1 0 CNPY1 285888 broad.mit.edu 37 7 155295764 155295764 + Nonstop_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr7:155295764T>C uc003wmc.1 - 4 423 c.278A>G c.(277-279)TAG>TGG p.*93W NM_001103176 NP_001096646 Q3B7I2 CNPY1_HUMAN canopy 1 homolog 93 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) ACGGCACTCCTAGAGCTCAGT 0.378 NA 9 24 0 0 0.008291 0 0 DLGAP2 9228 broad.mit.edu 37 8 1624783 1624783 + Nonsense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:1624783C>T uc003wpl.2 + 8 2144 c.2047C>T c.(2047-2049)CGA>TGA p.R683* DLGAP2_uc003wpm.2_Nonsense_Mutation_p.R669* NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 762 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AGATGAGAAGCGGTAACTCAG 0.582 NA 5 9 0 0 0.000602 0 0 CSMD1 64478 broad.mit.edu 37 8 3166007 3166007 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:3166007C>A uc011kwk.1 - 24 4043 c.3653G>T c.(3652-3654)TGT>TTT p.C1218F CSMD1_uc011kwj.1_Missense_Mutation_p.C610F|CSMD1_uc003wqe.2_Missense_Mutation_p.C374F NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1218 Extracellular (Potential).|Sushi 7. 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) CGGATCCTCACATTTTACCAG 0.478 NA 6 12 0.00116845 0.00134126 0.001168 1 0 BLK 640 broad.mit.edu 37 8 11412354 11412354 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:11412354G>A uc003wty.2 + 7 1156 c.575G>A c.(574-576)CGG>CAG p.R192Q BLK_uc003wtz.2_Missense_Mutation_p.R121Q NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 192 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) ATCTCCCCCCGGATCACCTTC 0.597 NA 14 24 0 0 0.003163 0 0 RB1CC1 9821 broad.mit.edu 37 8 53586509 53586509 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:53586509C>G uc003xre.3 - 7 1456 c.898G>C c.(898-900)GAT>CAT p.D300H RB1CC1_uc003xrf.3_Missense_Mutation_p.D300H NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 300 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AAGGGCAGATCACCATCTTTA 0.388 GBM(180;1701 2102 13475 42023 52570) NA 28 89 0 0 0.005443 0 0 RP1 6101 broad.mit.edu 37 8 55537288 55537288 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:55537288A>T uc003xsd.1 + 4 994 c.846A>T c.(844-846)AAA>AAT p.K282N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 282 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTTCTGAGAAAACACATAATA 0.323 Colon(91;1014 1389 7634 14542 40420) NA 20 52 0 0 0.007413 0 0 PREX2 80243 broad.mit.edu 37 8 69028086 69028086 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:69028086G>A uc003xxv.1 + 26 3272 c.3245G>A c.(3244-3246)AGC>AAC p.S1082N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1082 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 GAAAGAAACAGCAAACGGGTA 0.398 NA 29 74 0 0 0.002445 0 0 SULF1 23213 broad.mit.edu 37 8 70539497 70539497 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:70539497T>C uc010lza.1 + 16 2620 c.1903T>C c.(1903-1905)TCG>CCG p.S635P SULF1_uc003xyd.2_Missense_Mutation_p.S635P|SULF1_uc003xye.2_Missense_Mutation_p.S635P|SULF1_uc003xyf.2_Missense_Mutation_p.S635P|SULF1_uc003xyg.2_Missense_Mutation_p.S635P|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'Flank NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 635 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ACTGTACCAATCGGCCAGAGC 0.418 NA 7 34 0 0 0.004482 0 0 PRDM14 63978 broad.mit.edu 37 8 70981559 70981559 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:70981559C>A uc003xym.2 - 2 739 c.537G>T c.(535-537)GAG>GAT p.E179D NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TGGGACCATCCTCTGACTGCT 0.577 NSCLC(129;99 1813 5906 40656 46114) NA 9 25 0.00448238 0.00499424 0.004482 1 0 ZFHX4 79776 broad.mit.edu 37 8 77765793 77765793 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:77765793C>T uc003yav.2 + 10 6888 c.6501C>T c.(6499-6501)CCC>CCT p.P2167P ZFHX4_uc003yau.1_Silent_p.P2212P|ZFHX4_uc003yaw.1_Silent_p.P2167P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2167 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) ATCCACAGCCCACCTCTTTAG 0.373 NA HNSCC(33;0.089) 13 60 0 0 0.001368 0 0 RRM2B 50484 broad.mit.edu 37 8 103231152 103231152 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:103231152C>A uc003ykn.2 - 6 818 c.574G>T c.(574-576)GCT>TCT p.A192S RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.A140S|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron NM_015713 NP_056528 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 192 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding ovary(2) 2 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) CCTTCTACAGCAGCAAAGGCC 0.368 NA Direct_reversal_of_damage|Modulation_of_nucleotide_pools 21 130 5.35047e-06 7.10967e-06 0.00333 1 0 ATAD2 29028 broad.mit.edu 37 8 124383531 124383531 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:124383531C>A uc003yqh.3 - 5 692 c.584G>T c.(583-585)CGT>CTT p.R195L ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.R195L NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TCGCTGTCTACGCATCTTCTT 0.313 NA 5 38 8.12818e-05 9.89581e-05 0.001984 1 0 BAI1 575 broad.mit.edu 37 8 143561100 143561100 + Nonsense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:143561100G>A uc003ywm.2 + 8 1956 c.1773G>A c.(1771-1773)TGG>TGA p.W591* NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 591 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTGTGATCTGGAAGGAGACCC 0.642 NA 12 76 0 0 0.00245 0 0 BAI1 575 broad.mit.edu 37 8 143561106 143561106 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:143561106G>A uc003ywm.2 + 8 1962 c.1779G>A c.(1777-1779)GAG>GAA p.E593E NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 593 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TCTGGAAGGAGACCCCAGCGG 0.642 NA 12 75 0 0 0.00245 0 0 BAI1 575 broad.mit.edu 37 8 143562615 143562615 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:143562615G>C uc003ywm.2 + 9 2012 c.1829G>C c.(1828-1830)GGA>GCA p.G610A NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 610 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTCTCCCCAGGACTCATCCTG 0.622 NA 8 38 0 0 0.00308 0 0 BAI1 575 broad.mit.edu 37 8 143562715 143562715 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:143562715G>C uc003ywm.2 + 9 2112 c.1929G>C c.(1927-1929)CAG>CAC p.Q643H NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 643 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GAAACATCCAGATGATGGTGA 0.607 NA 9 34 0 0 0.008291 0 0 DOCK8 81704 broad.mit.edu 37 9 328021 328021 + Splice_Site SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:328021G>C uc003zgf.2 + 9 1007 c.895_splice c.e9-1 p.I299_splice DOCK8_uc011lls.1_Splice_Site_p.I299_splice|DOCK8_uc010mgu.2_Splice_Site|DOCK8_uc010mgv.2_Splice_Site_p.I231_splice|DOCK8_uc003zgg.2_Splice_Site_p.I231_splice|DOCK8_uc003zgh.2_Splice_Site NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CTCATTTACAGATCTCAGAAA 0.408 NA 21 46 0 0 0.001882 0 0 PTPRD 5789 broad.mit.edu 37 9 8449761 8449761 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:8449761G>T uc003zkk.2 - 33 4663 c.3952C>A c.(3952-3954)CCT>ACT p.P1318T PTPRD_uc003zkp.2_Missense_Mutation_p.P912T|PTPRD_uc003zkq.2_Missense_Mutation_p.P911T|PTPRD_uc003zkr.2_Missense_Mutation_p.P902T|PTPRD_uc003zks.2_Missense_Mutation_p.P897T|PTPRD_uc003zkl.2_Missense_Mutation_p.P1309T|PTPRD_uc003zkm.2_Missense_Mutation_p.P1305T|PTPRD_uc003zkn.2_Missense_Mutation_p.P907T|PTPRD_uc003zko.2_Missense_Mutation_p.P908T NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1318 Cytoplasmic (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) AGTTCTACAGGGTCTGTTGGG 0.448 NA TSP Lung(15;0.13) 38 118 7.53189e-24 1.52198e-23 0.007835 1 0 C9orf72 203228 broad.mit.edu 37 9 27561600 27561600 + Silent SNP A A G rs149801256 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:27561600A>G uc003zqq.2 - 5 745 c.648T>C c.(646-648)CAT>CAC p.H216H C9orf72_uc003zqr.1_Silent_p.H216H NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a 216 ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) GAAAGCCTTCATGACAGCTGT 0.328 NA 12 30 0 0 0.001855 0 0 RECK 8434 broad.mit.edu 37 9 36118894 36118894 + Silent SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:36118894C>G uc003zyv.2 + 18 2480 c.2394C>G c.(2392-2394)TCC>TCG p.S798S RECK_uc003zyw.2_Silent_p.S670S|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 798 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AGCACAGCTCCGTCGCCGAGT 0.607 NA 6 45 0 0 0.001168 0 0 RNF38 152006 broad.mit.edu 37 9 36369894 36369894 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:36369894C>T uc003zzh.2 - 4 583 c.392G>A c.(391-393)CGT>CAT p.R131H RNF38_uc003zzi.2_Missense_Mutation_p.R81H|RNF38_uc003zzj.2_Missense_Mutation_p.R48H|RNF38_uc003zzk.2_Missense_Mutation_p.R48H|RNF38_uc003zzl.2_Missense_Mutation_p.R55H|RNF38_uc003zzm.2_Missense_Mutation_p.R48H NM_022781 NP_073618 Q9H0F5 RNF38_HUMAN ring finger protein 38 isoform 1 131 zinc ion binding central_nervous_system(1) 1 STAD - Stomach adenocarcinoma(86;0.228) TCGAGACAGACGATCCCTTCT 0.453 NA 6 27 0 0 0.001168 0 0 FLJ46321 389763 broad.mit.edu 37 9 84607683 84607683 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:84607683G>A uc004amn.2 + 4 2345 c.2298G>A c.(2296-2298)ATG>ATA p.M766I NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 766 integral to membrane 0 TGCTTTCCATGGAGAATGTGG 0.473 NA 9 41 0 0 0.008291 0 0 FAM75C1 441452 broad.mit.edu 37 9 90535409 90535409 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:90535409C>A uc010mqi.2 + 4 616 c.587C>A c.(586-588)TCC>TAC p.S196Y FAM75C1_uc004apq.3_Missense_Mutation_p.S179Y NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 CTAAGTGCCTCCCAGCCACCA 0.617 NA 66 163 9.4991e-31 2.01487e-30 0.00361 1 0 SEMA4D 10507 broad.mit.edu 37 9 91994486 91994486 + Silent SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:91994486C>G uc004aqo.1 - 18 2294 c.1722G>C c.(1720-1722)CTG>CTC p.L574L SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.L572L NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 574 Ig-like C2-type.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 GGGAGCATTTCAGTTCCGCTG 0.483 NA 19 180 0 0 0.001882 0 0 NOL8 55035 broad.mit.edu 37 9 95069173 95069173 + Missense_Mutation SNP T T G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:95069173T>G uc004arv.2 - 11 3157 c.2820A>C c.(2818-2820)AAA>AAC p.K940N NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.K172N|NOL8_uc011ltw.1_Missense_Mutation_p.K872N NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 940 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 CATACTTAAATTTCTTAGCAG 0.333 NA 38 92 0 0 0.009718 0 0 C9orf43 257169 broad.mit.edu 37 9 116186556 116186556 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:116186556C>T uc004bho.3 + 8 1163 c.767C>T c.(766-768)TCT>TTT p.S256F C9orf43_uc004bhp.2_Missense_Mutation_p.S256F NM_152786 NP_689999 Q8TAL5 CI043_HUMAN hypothetical protein LOC257169 256 0 AGTGTGATTTCTTCTAAGATG 0.433 NA 21 170 0 0 0.002299 0 0 DBC1 1620 broad.mit.edu 37 9 121976385 121976385 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:121976385G>A uc004bkc.2 - 6 1190 c.734C>T c.(733-735)TCG>TTG p.S245L DBC1_uc004bkd.2_Missense_Mutation_p.S245L NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 245 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GCTCAAGGCCGACTGGACAAA 0.478 NA 6 50 0 0 0.001168 0 0 TTLL11 158135 broad.mit.edu 37 9 124751430 124751430 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:124751430C>A uc004blt.1 - 4 1771 c.1583G>T c.(1582-1584)GGC>GTC p.G528V TTLL11_uc011lyl.1_Intron|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_3'UTR NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 528 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 CCTCTTGAGGCCGGTCAAGGC 0.557 NA 24 51 7.88262e-20 1.54265e-19 0.00333 1 0 OR1N2 138882 broad.mit.edu 37 9 125315572 125315572 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:125315572C>G uc011lyx.1 + 1 124 c.124C>G c.(124-126)CCT>GCT p.P42A NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 42 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 AGAGGAGCAGCCTCTTCTGTT 0.527 NA 20 60 0 0 0.007413 0 0 PKN3 29941 broad.mit.edu 37 9 131469303 131469303 + Splice_Site SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:131469303G>T uc004bvw.2 + 5 1044 c.651_splice c.e5+1 p.E217_splice PKN3_uc010myh.2_Splice_Site_p.E217_splice|PKN3_uc011mbk.1_Splice_Site NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN protein kinase PKNbeta signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity stomach(2)|lung(2) 4 ACTGGCTGAGGTCAGGCCCCA 0.612 NA 18 41 2.37509e-13 4.1068e-13 0.010504 1 0 ADAMTS13 11093 broad.mit.edu 37 9 136310172 136310172 + Missense_Mutation SNP A A T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:136310172A>T uc004cdv.3 + 20 3053 c.2609A>T c.(2608-2610)CAT>CTT p.H870L ADAMTS13_uc004cdp.3_Missense_Mutation_p.H97L|ADAMTS13_uc004cdt.1_Missense_Mutation_p.H870L|ADAMTS13_uc004cdu.1_Missense_Mutation_p.H839L|ADAMTS13_uc004cdw.3_Missense_Mutation_p.H870L|ADAMTS13_uc004cdx.3_Missense_Mutation_p.H839L|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.H540L|ADAMTS13_uc004cds.1_Missense_Mutation_p.H395L|ADAMTS13_uc004cdr.1_RNA NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 870 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGCTGGGGCCATGTGAGTGCC 0.647 NA 4 13 0 0 0.000602 0 0 QSOX2 169714 broad.mit.edu 37 9 139115958 139115958 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:139115958C>A uc010nbi.2 - 4 517 c.479G>T c.(478-480)GGA>GTA p.G160V NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 160 Thioredoxin. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TCGGTCAGGTCCTGCCGGAAG 0.657 NA 14 30 6.31663e-08 9.19884e-08 0.003163 1 0 ARSH 347527 broad.mit.edu 37 X 2931179 2931179 + Silent SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:2931179G>C uc011mhj.1 + 3 306 c.306G>C c.(304-306)CTG>CTC p.L102L NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 102 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TTGCCAAGCTGCTGCAGCACC 0.562 NA 11 81 0 0 0.008291 0 0 STS 412 broad.mit.edu 37 X 7171273 7171273 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:7171273G>T uc004cry.3 + 2 293 c.48G>T c.(46-48)CTG>CTT p.L16L STS_uc004crw.2_RNA|STS_uc011mhp.1_RNA|STS_uc004crx.1_RNA|STS_uc010ndm.1_RNA NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 16 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TGTTCTTTCTGTGGGAAGCCG 0.453 NA Ichthyosis 10 39 1.76689e-08 2.62345e-08 0.006214 1 0 OFD1 8481 broad.mit.edu 37 X 13778502 13778502 + Silent SNP G G A rs145300245 byFrequency TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:13778502G>A uc004cvp.3 + 16 2282 c.1923G>A c.(1921-1923)GAG>GAA p.E641E OFD1_uc004cvr.3_Silent_p.E208E|OFD1_uc011mil.1_Silent_p.E208E|OFD1_uc004cvq.3_Silent_p.E501E|OFD1_uc010nen.2_Silent_p.E640E|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Silent_p.E600E|OFD1_uc004cvv.3_Silent_p.E600E NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 641 Potential.|Mediates the interaction with SDCCAG8.|Mediates homooligomerization. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 TTCAGCAAGAGGCCGAACGCT 0.478 NA 4 100 0 0 0.009096 0 0 SYAP1 94056 broad.mit.edu 37 X 16761894 16761894 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:16761894C>T uc004cxp.2 + 5 599 c.506C>T c.(505-507)CCC>CTC p.P169L SYAP1_uc004cxo.2_Missense_Mutation_p.P169L|SYAP1_uc011miv.1_Missense_Mutation_p.P135L NM_032796 NP_116185 Q96A49 SYAP1_HUMAN SYAP1 protein 169 BSD. skin(1) 1 Hepatocellular(33;0.0997) CAGATGTACCCCGTGGCCCTG 0.468 NA 6 226 0 0 0.001168 0 0 CDKL5 6792 broad.mit.edu 37 X 18627664 18627664 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:18627664C>A uc004cym.2 + 14 2379 c.2126C>A c.(2125-2127)CCA>CAA p.P709Q CDKL5_uc004cyn.2_Missense_Mutation_p.P709Q NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 709 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) GATCCTGTGCCAAGGAGAGTT 0.498 NA 7 54 8.12818e-05 9.89581e-05 0.001984 1 0 MAGEB6 158809 broad.mit.edu 37 X 26212698 26212698 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:26212698G>A uc004dbr.2 + 2 884 c.735G>A c.(733-735)GTG>GTA p.V245V MAGEB6_uc010ngc.1_Silent_p.V25V NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 245 MAGE. ovary(3) 3 AACATTTGGTGGTGGCCTTTG 0.507 NA 12 59 0 0 0.000978 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27765740 27765740 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:27765740T>A uc011mjy.1 + 1 815 c.728T>A c.(727-729)CTG>CAG p.L243Q NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 GGCACCCGGCTGGCCAGTAGC 0.532 NA 4 26 0 0 0.009096 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998837 27998837 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:27998837G>T uc004dbx.1 - 1 730 c.615C>A c.(613-615)AAC>AAA p.N205K NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 205 WD 1. ovary(3)|skin(1) 4 TGCCACGCTGGTTAAAGTGTA 0.537 NA 6 25 4.096e-09 6.31505e-09 0.001168 1 0 ZNF673 55634 broad.mit.edu 37 X 46322201 46322201 + Missense_Mutation SNP G G C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:46322201G>C uc004dgn.3 + 4 333 c.34G>C c.(34-36)GAC>CAC p.D12H ZNF673_uc004dgp.3_Missense_Mutation_p.D12H|ZNF673_uc010nhl.2_Missense_Mutation_p.D12H|ZNF673_uc004dgm.3_Missense_Mutation_p.D12H NM_001129898 NP_001123370 Q5JUW0 ZN673_HUMAN zinc finger family member 673 isoform 1 12 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 GACCTTCAAGGACGTGTTTGT 0.547 NA 8 34 0 0 0.00308 0 0 PORCN 64840 broad.mit.edu 37 X 48369726 48369726 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:48369726G>A uc010nie.1 + 3 338 c.180G>A c.(178-180)GGG>GGA p.G60G PORCN_uc004djq.1_Silent_p.G173G|PORCN_uc004djr.1_Silent_p.G60G|PORCN_uc004djs.1_Silent_p.G60G|PORCN_uc004djt.1_Intron|PORCN_uc011mlx.1_Intron|PORCN_uc004dju.1_Intron|PORCN_uc004djv.1_Silent_p.G60G|PORCN_uc004djw.1_Silent_p.G60G NM_203475 NP_982301 Q9H237 PORCN_HUMAN porcupine isoform D 60 Extracellular (Potential).|Leu-rich. G -> R (in FODH). Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(2)|central_nervous_system(1) 3 TGGCAGGCGGGTTCTTCAGCC 0.443 NA OREG0019764 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 98 0 0 0.006122 0 0 WNK3 65267 broad.mit.edu 37 X 54275171 54275171 + Silent SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:54275171G>A uc004dtd.1 - 17 4049 c.3610C>T c.(3610-3612)CTG>TTG p.L1204L WNK3_uc004dtc.1_Silent_p.L1204L NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1204 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 ATCACATTCAGGTCCCTTTTG 0.393 NA 8 36 0 0 0.00308 0 0 ITIH5L 347365 broad.mit.edu 37 X 54784218 54784218 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:54784218C>T uc004dtj.2 - 8 2319 c.2289G>A c.(2287-2289)GTG>GTA p.V763V NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 763 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TGCCAGGTTTCACAGGTGGGA 0.532 NA 6 75 0 0 0.001168 0 0 APEX2 27301 broad.mit.edu 37 X 55033290 55033290 + Missense_Mutation SNP C C A rs138407648 byFrequency TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:55033290C>A uc004dtz.2 + 6 1055 c.979C>A c.(979-981)CGC>AGC p.R327S APEX2_uc011mom.1_Missense_Mutation_p.R156S NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 327 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 TCTGTGCACCCGCTTCCTCCC 0.572 NA Other_BER_factors 3 34 0.004672 0.00517176 0.004672 1 0 USP51 158880 broad.mit.edu 37 X 55514457 55514457 + Nonsense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:55514457C>A uc004dun.1 - 2 995 c.916G>T c.(916-918)GAA>TAA p.E306* USP51_uc011moo.1_Intron NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 306 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 AAAATTTTTTCTTTTGTTTCT 0.343 NA 4 72 0.00024832 0.000291915 0.009096 1 0 PJA1 64219 broad.mit.edu 37 X 68382632 68382632 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:68382632C>A uc004dxh.2 - 2 736 c.450G>T c.(448-450)AAG>AAT p.K150N PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.K95N NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 150 zinc ion binding 0 GGTCATACAGCTTATCATCTT 0.512 NA 8 18 0.000157383 0.000188254 0.00308 1 0 PHKA1 5255 broad.mit.edu 37 X 71856209 71856210 + Nonsense_Mutation DNP CC CC TA TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:71856209_71856210CC>TA uc004eax.3 - 15 1787_1788 c.1486_1487GG>TA c.(1486-1488)GGA>TAA p.G496* PHKA1_uc004eay.3_Nonsense_Mutation_p.G496*|PHKA1_uc011mqi.1_Nonsense_Mutation_p.G496* NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 496 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) GTAGGGTCGTCCACTGAGTTTC 0.356 NA 13 70 0 0 0.004672 0 0 FAM46D 169966 broad.mit.edu 37 X 79698805 79698805 + Missense_Mutation SNP A A G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:79698805A>G uc004edl.1 + 5 1101 c.767A>G c.(766-768)AAA>AGA p.K256R FAM46D_uc004edm.1_Missense_Mutation_p.K256R NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 256 lung(2) 2 TCAGAAATCAAAAACCTAGAA 0.388 NA 4 49 0 0 0.009096 0 0 ZNF711 7552 broad.mit.edu 37 X 84510461 84510461 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:84510461G>T uc004eeo.2 + 4 623 c.276G>T c.(274-276)GCG>GCT p.A92A ZNF711_uc004eep.2_Silent_p.A92A|ZNF711_uc004eeq.2_Silent_p.A92A NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 92 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 TTCCTGAAGCGGTACTTGAAG 0.433 NA 48 126 1.00953e-15 1.88906e-15 0.003214 1 0 PABPC5 140886 broad.mit.edu 37 X 90691151 90691151 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:90691151C>A uc004efg.2 + 2 1015 c.575C>A c.(574-576)ACC>AAC p.T192N PABPC5_uc004eff.1_Missense_Mutation_p.T28N NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 192 cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 GAGGTCAGAACCAGGGATAGA 0.463 NA 15 48 6.31663e-08 9.19884e-08 0.003163 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873442 91873442 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:91873442C>A uc004efk.1 + 7 4392 c.3547C>A c.(3547-3549)CAG>AAG p.Q1183K PCDH11X_uc004efl.1_Missense_Mutation_p.Q1173K|PCDH11X_uc004efo.1_Missense_Mutation_p.Q1146K|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.Q1175K|PCDH11X_uc004efn.1_Missense_Mutation_p.Q1165K NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1183 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GGCCTCTACTCAGCACCACAG 0.587 NSCLC(38;925 1092 2571 38200 45895) NA 26 73 3.01185e-09 4.65406e-09 0.003954 1 0 CENPI 2491 broad.mit.edu 37 X 100381698 100381698 + Nonsense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:100381698G>T uc004egx.2 + 8 958 c.688G>T c.(688-690)GGA>TGA p.G230* CENPI_uc011mrg.1_Nonsense_Mutation_p.G230*|CENPI_uc004egy.2_Nonsense_Mutation_p.G230* NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 230 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 TTTATTTCAGGGAATGCAGCC 0.353 NA 10 398 7.48243e-07 1.03872e-06 0.006214 1 0 NXF3 56000 broad.mit.edu 37 X 102333559 102333559 + Silent SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:102333559C>A uc004eju.2 - 17 1451 c.1380G>T c.(1378-1380)GTG>GTT p.V460V NXF3_uc010noi.1_Intron NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 460 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 ACTGTCCTTCCACTTCAAAGA 0.517 NA 7 186 0.00448238 0.00499424 0.004482 1 0 GLRA4 441509 broad.mit.edu 37 X 102979084 102979084 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:102979084C>A uc011mse.1 - 4 837 c.416G>T c.(415-417)GGG>GTG p.G139V GLRA4_uc010nou.2_Missense_Mutation_p.G139V NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 139 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 GAAGTTGGCCCCTTTCTCATT 0.527 NA 54 128 1.4374e-25 2.96599e-25 0.00361 1 0 CXorf57 55086 broad.mit.edu 37 X 105905439 105905439 + Nonsense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:105905439C>T uc004emi.3 + 12 2324 c.2173C>T c.(2173-2175)CAG>TAG p.Q725* CXorf57_uc004emj.3_Nonsense_Mutation_p.Q628* NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 725 ovary(1)|lung(1)|breast(1) 3 GTATAATTCTCAGCCTGCGAA 0.403 NA 20 74 0 0 0.008871 0 0 RBM41 55285 broad.mit.edu 37 X 106331911 106331911 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:106331911C>G uc004emz.2 - 5 713 c.682G>C c.(682-684)GGC>CGC p.G228R RBM41_uc004emy.1_Missense_Mutation_p.G228R NM_018301 NP_060771 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 228 nucleotide binding|RNA binding ovary(1) 1 TCAGCTGTGCCACTATCACCC 0.463 NA 15 57 0 0 0.00499 0 0 GUCY2F 2986 broad.mit.edu 37 X 108684624 108684624 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:108684624G>T uc004eod.3 - 7 1933 c.1657C>A c.(1657-1659)CTA>ATA p.L553I GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 553 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 GCTGGAGTTAGACTCCCTGAA 0.438 NA 56 150 3.88204e-17 7.40623e-17 0.00361 1 0 IL13RA1 3597 broad.mit.edu 37 X 117900509 117900509 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:117900509G>T uc004eqs.2 + 7 888 c.845G>T c.(844-846)TGT>TTT p.C282F IL13RA1_uc004eqt.1_Missense_Mutation_p.C282F NM_001560 NP_001551 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 precursor 282 Extracellular (Potential). interleukin-13 receptor complex cytokine receptor activity 0 GAGGCTAAATGTGAGAATCCA 0.338 NA 5 109 1.23904e-05 1.59673e-05 0.000602 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299247 125299247 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:125299247G>T uc004euk.1 - 1 688 c.661C>A c.(661-663)CGG>AGG p.R221R NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 221 WD 2. p.R221Q(1) lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GGGTCCATCCGCCACAGAGCC 0.637 NA 12 33 6.40141e-05 7.90626e-05 0.000978 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130218269 130218269 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:130218269C>T uc004evz.2 + 5 981 c.636C>T c.(634-636)TCC>TCT p.S212S ARHGAP36_uc004ewa.2_Silent_p.S200S|ARHGAP36_uc004ewb.2_Silent_p.S181S|ARHGAP36_uc004ewc.2_Silent_p.S76S NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 212 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 CAAAAATTTCCTTTCCAATTG 0.498 NA 13 32 0 0 0.001855 0 0 DDX26B 203522 broad.mit.edu 37 X 134713926 134713926 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:134713926G>T uc004eyw.3 + 15 2585 c.2222G>T c.(2221-2223)GGA>GTA p.G741V DDX26B_uc004eyx.3_Missense_Mutation_p.G342V NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 741 0 Acute lymphoblastic leukemia(192;6.56e-05) TTTGTAGGAGGAGCCAAAAAC 0.453 NA 13 48 0.00136819 0.00156791 0.001368 1 0 MAGEA10 4109 broad.mit.edu 37 X 151303839 151303839 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:151303839T>A uc004ffk.2 - 5 662 c.254A>T c.(253-255)CAG>CTG p.Q85L MAGEA10_uc004ffl.2_Missense_Mutation_p.Q85L NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 85 0 Acute lymphoblastic leukemia(192;6.56e-05) CTGAGCACTCTGGGGAGGATT 0.448 NA 48 162 0 0 0.00361 0 0 GABRQ 55879 broad.mit.edu 37 X 151819033 151819033 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:151819033G>T uc004ffp.1 + 7 911 c.891G>T c.(889-891)AGG>AGT p.R297S NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 297 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTGCAGCCAGGGTGACAATTG 0.438 NA 73 249 2.13431e-38 4.61307e-38 0.00361 1 0 MAGEA12 4111 broad.mit.edu 37 X 151900060 151900061 + Missense_Mutation DNP GG GG CA TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:151900060_151900061GG>CA uc010ntp.2 - 3 1094_1095 c.740_741CC>TG c.(739-741)ACC>ATG p.T247M MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.T247M NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 247 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CCAAATCTTGGGTGAGCAGCTT 0.574 NA 52 192 0 0 0.004672 0 0 SRPK3 26576 broad.mit.edu 37 X 153049525 153049525 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:153049525C>A uc004fil.2 + 10 1036 c.1004C>A c.(1003-1005)TCC>TAC p.S335Y SRPK3_uc004fik.2_Missense_Mutation_p.S401Y|SRPK3_uc010nul.2_Intron|SRPK3_uc004fin.2_Missense_Mutation_p.S334Y|SRPK3_uc004fim.2_Intron NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 335 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GCCTCTTCCTCCCCCGCCCCA 0.697 Esophageal Squamous(167;766 3400 32156) NA 11 27 0.000673444 0.00078626 0.008291 1 0 CLIC2 1193 broad.mit.edu 37 X 154508456 154508456 + Silent SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chrX:154508456G>T uc004fnf.2 - 5 814 c.564C>A c.(562-564)CCC>CCA p.P188P CLIC2_uc010nvj.1_Silent_p.P206P NM_001289 NP_001280 O15247 CLIC2_HUMAN chloride intracellular channel 2 188 GST C-terminal.|C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity large_intestine(1)|ovary(1)|skin(1) 3 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGTTCAGCTTGGGTAACAAGC 0.478 Melanoma(108;581 1592 2289 21669 28822) NA 6 133 0.00116845 0.00134126 0.001168 1 0 ESPN 83715 broad.mit.edu 37 1 6520177 6520178 + Frame_Shift_Ins INS - - T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:6520177_6520178insT uc001amy.2 + 13 2704_2705 c.2536_2537insT c.(2536-2538)CTGfs p.L846fs ESPN_uc001amz.2_Frame_Shift_Ins_p.L280fs NM_031475 NP_113663 B1AK53 ESPN_HUMAN espin 846 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding 0 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) ACAGGTCATCCTGAAGAAGGGG 0.668 NA 14 45 --- --- --- --- NA NA NA NA NA MST1P9 11223 broad.mit.edu 37 1 17086085 17086086 + Frame_Shift_Ins INS - - C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:17086085_17086086insC uc010ock.1 - 7 811_812 c.811_812insG c.(811-813)GCGfs p.A271fs CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 GGCAAGGTACGCCGCGGTGGTG 0.649 NA 3 6 --- --- --- --- NA NA NA NA NA PHGDH 26227 broad.mit.edu 37 1 120279767 120279768 + Frame_Shift_Ins INS - - A rs150995624 TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:120279767_120279768insA uc001ehz.2 + 8 1050_1051 c.823_824insA c.(823-825)CATfs p.H275fs PHGDH_uc009whm.2_Frame_Shift_Ins_p.H173fs|PHGDH_uc001eia.2_Frame_Shift_Ins_p.H275fs|PHGDH_uc009whn.2_Frame_Shift_Ins_p.H275fs|PHGDH_uc001eib.2_Frame_Shift_Ins_p.H241fs NM_006623 NP_006614 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 275 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity ovary(1) 1 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CTTGGTGGACCATGAGAATGTC 0.609 NA 16 42 --- --- --- --- NA NA NA NA NA RYR2 6262 broad.mit.edu 37 1 237993848 237993848 + Frame_Shift_Del DEL G G - TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr1:237993848delG uc001hyl.1 + 103 14794 c.14674delG c.(14674-14676)GGGfs p.G4892fs RYR2_uc010pyb.1_Intron NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4892 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTCATCTGTGGGATAGGCAA 0.433 NA 27 121 --- --- --- --- NA NA NA NA NA TRHDE 29953 broad.mit.edu 37 12 73014906 73014907 + Frame_Shift_Ins INS - - T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr12:73014906_73014907insT uc001sxa.2 + 14 2383_2384 c.2353_2354insT c.(2353-2355)GTTfs p.V785fs NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 785 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TTTAAAGCAAGTTGCAACAACA 0.292 NA 14 55 --- --- --- --- NA NA NA NA NA POSTN 10631 broad.mit.edu 37 13 38158979 38158980 + Frame_Shift_Ins INS - - A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr13:38158979_38158980insA uc001uwo.3 - 8 1099_1100 c.981_982insT c.(979-984)AATACAfs p.N327fs POSTN_uc001uwp.3_Frame_Shift_Ins_p.N327fs|POSTN_uc001uwr.2_Frame_Shift_Ins_p.N327fs|POSTN_uc001uwq.2_Frame_Shift_Ins_p.N327fs|POSTN_uc010teu.1_Frame_Shift_Ins_p.N327fs|POSTN_uc010tev.1_Frame_Shift_Ins_p.N327fs|POSTN_uc010tew.1_Frame_Shift_Ins_p.N327fs|POSTN_uc010tex.1_Frame_Shift_Ins_p.N242fs NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 327_328 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ATCTCAATTGTATTTCCTTCCA 0.376 NA 17 39 --- --- --- --- NA NA NA NA NA ADAL 161823 broad.mit.edu 37 15 43638085 43638086 + Frame_Shift_Del DEL TT TT - TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 TT TT - - TT TT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr15:43638085_43638086delTT uc010udo.1 + 9 1033_1034 c.459_460delTT c.(457-462)CCTTTAfs p.P153fs ADAL_uc001zrh.2_Frame_Shift_Del_p.P153fs|ADAL_uc001zri.1_Frame_Shift_Del_p.P38fs NM_001159280 NP_001152752 Q6DHV7 ADAL_HUMAN adenosine deaminase-like isoform 1 153_154 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding 0 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GAGGTGGCCCTTTAGTAGCCAA 0.411 NA 10 88 --- --- --- --- NA NA NA NA NA XIRP2 129446 broad.mit.edu 37 2 168103030 168103030 + Frame_Shift_Del DEL G G - TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr2:168103030delG uc002udx.2 + 8 5146 c.5128delG c.(5128-5130)GGTfs p.G1710fs XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Frame_Shift_Del_p.G1535fs|XIRP2_uc010fpq.2_Frame_Shift_Del_p.G1488fs|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1535 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGAAGTAATAGGTGGTGATGT 0.338 NA 20 71 --- --- --- --- NA NA NA NA NA BPI 671 broad.mit.edu 37 20 36932652 36932652 + Frame_Shift_Del DEL G G - TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:36932652delG uc002xib.2 + 1 101 c.39delG c.(37-39)CCGfs p.P13fs NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 13 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) GCAACGCGCCGAGATGGGCGT 0.617 NA 16 116 --- --- --- --- NA NA NA NA NA BMP7 655 broad.mit.edu 37 20 55777651 55777651 + Frame_Shift_Del DEL G G - TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr20:55777651delG uc010gip.1 - 3 1169 c.640delC c.(640-642)CGTfs p.R214fs BMP7_uc010giq.1_Frame_Shift_Del_p.R214fs|BMP7_uc002xyc.2_Frame_Shift_Del_p.R214fs NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 214 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CAGAGGGTACGGCTGTCGAGC 0.617 NA 14 56 --- --- --- --- NA NA NA NA NA SCAND3 114821 broad.mit.edu 37 6 28541080 28541081 + Frame_Shift_Ins INS - - T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:28541080_28541081insT uc003nlo.2 - 4 3203_3204 c.2585_2586insA c.(2584-2586)AAGfs p.K862fs NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 862 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 gagctaccttctttgctgcaga 0 NA 24 173 --- --- --- --- NA NA NA NA NA OPRM1 4988 broad.mit.edu 37 6 154410994 154410994 + Frame_Shift_Del DEL C C - TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr6:154410994delC uc003qpr.2 + 2 561 c.324delC c.(322-324)TACfs p.Y108fs OPRM1_uc011efb.1_Frame_Shift_Del_p.Y156fs|OPRM1_uc011efc.1_Frame_Shift_Del_p.Y27fs|OPRM1_uc011efd.1_Frame_Shift_Del_p.Y8fs|OPRM1_uc011efe.1_Frame_Shift_Del_p.Y201fs|OPRM1_uc003qpn.2_Frame_Shift_Del_p.Y108fs|OPRM1_uc003qpo.1_Frame_Shift_Del_p.Y108fs|OPRM1_uc011eff.1_Frame_Shift_Del_p.Y108fs|OPRM1_uc011efg.1_Frame_Shift_Del_p.Y108fs|OPRM1_uc011efh.1_Frame_Shift_Del_p.Y108fs|OPRM1_uc003qpq.1_Frame_Shift_Del_p.Y108fs|OPRM1_uc003qpt.1_Frame_Shift_Del_p.Y108fs|OPRM1_uc011efi.1_Frame_Shift_Del_p.Y108fs|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Frame_Shift_Del_p.Y8fs|OPRM1_uc003qpu.2_Frame_Shift_Del_p.Y8fs NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 108 Helical; Name=2; (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) CCAACATCTACATTTTCAACC 0.433 NA 28 87 --- --- --- --- NA NA NA NA NA SNTG1 54212 broad.mit.edu 37 8 51664620 51664620 + Frame_Shift_Del DEL C C - TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:51664620delC uc010lxy.1 + 19 1715 c.1344delC c.(1342-1344)AGCfs p.S448fs SNTG1_uc003xqs.1_Frame_Shift_Del_p.S448fs|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 448 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATGGCAAGAGCAAAATCAAAT 0.358 NA 29 90 --- --- --- --- NA NA NA NA NA TRPA1 8989 broad.mit.edu 37 8 72967791 72967791 + Frame_Shift_Del DEL C C - TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:72967791delC uc003xza.2 - 12 1584 c.1409delG c.(1408-1410)AGTfs p.S470fs NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 470 ANK 11.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CCTCGTATCACTTATGTCTTG 0.388 NA 14 63 --- --- --- --- NA NA NA NA NA TRIB1 10221 broad.mit.edu 37 8 126448538 126448539 + Frame_Shift_Ins INS - - TC TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr8:126448538_126448539insTC uc003yrx.2 + 3 1526_1527 c.944_945insTC c.(943-945)ATTfs p.I315fs TRIB1_uc011lis.1_Frame_Shift_Ins_p.I149fs|TRIB1_uc010mdn.2_Frame_Shift_Ins_p.I84fs NM_025195 NP_079471 Q96RU8 TRIB1_HUMAN G-protein-coupled receptor induced protein 315 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity lung(1) 1 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) AGGTGCCTCATTCGCAGCCTCT 0.574 NA 16 142 --- --- --- --- NA NA NA NA NA PAPPA 5069 broad.mit.edu 37 9 118949903 118949904 + Frame_Shift_Ins INS - - C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 529d953a-880b-4dd4-a6aa-c09c8c89d980 510b548e-4350-45c8-889d-8930c2f20f9c g.chr9:118949903_118949904insC uc004bjn.2 + 2 1267_1268 c.886_887insC c.(886-888)GCCfs p.A296fs PAPPA_uc011lxp.1_Frame_Shift_Ins_p.A89fs|PAPPA_uc011lxq.1_Frame_Shift_Ins_p.A89fs NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 296 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TGTGAAGCATGCCTGGTCCCCC 0.584 NA 15 34 --- --- --- --- NA NA NA NA NA