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 ACOT7 11332 broad.mit.edu 37 1 6387461 6387461 + Nonsense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:6387461C>A uc001ams.2 - 5 710 c.553G>T c.(553-555)GAG>TAG p.E185* ACOT7_uc010nzq.1_Nonsense_Mutation_p.E70*|ACOT7_uc001amt.2_Nonsense_Mutation_p.E175*|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Nonsense_Mutation_p.E134*|ACOT7_uc001amr.2_Nonsense_Mutation_p.E155* NM_181864 NP_863654 O00154 BACH_HUMAN acyl-CoA thioesterase 7 isoform hBACHb 185 mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity 0 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) TCCTCCTGCTCCTGCCGGGAA 0.637 GBM(74;673 1226 4974 11850 13190) NA 4 35 1.23904e-05 1.4199e-05 0.000602 1 0 MAD2L2 10459 broad.mit.edu 37 1 11737658 11737658 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:11737658G>A uc001asp.2 - 4 361 c.173C>T c.(172-174)CCG>CTG p.P58L MAD2L2_uc009vnc.2_Missense_Mutation_p.P58L|MAD2L2_uc001asq.3_Missense_Mutation_p.P58L NM_006341 NP_006332 Q9UI95 MD2L2_HUMAN MAD2 homolog 58 Mediates interaction with REV1 and REV3L and homodimerization.|HORMA. cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex JUN kinase binding 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATTCAGCTCCGGGTGGCAGGA 0.597 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 12 41 0 0 0.000978 0 0 TNFRSF8 943 broad.mit.edu 37 1 12186294 12186294 + Splice_Site SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:12186294G>A uc001atq.2 + 12 1531 c.1309_splice c.e12+1 p.D437_splice TNFRSF8_uc010obc.1_Splice_Site_p.D326_splice|TNFRSF8_uc001atr.2_Splice_Site|TNFRSF8_uc001ats.2_Splice_Site NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GAGCTTGTGGGTGAGTGTCCA 0.657 NA 13 80 0 0 0.004656 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166739 19166739 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:19166739G>A uc001bba.1 - 6 1875 c.1874C>T c.(1873-1875)CCC>CTC p.P625L NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 625 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGAGACCTTGGGCGGCCCCAC 0.622 NA 16 85 0 0 0.003163 0 0 HSPG2 3339 broad.mit.edu 37 1 22188551 22188551 + Nonsense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:22188551C>A uc001bfj.2 - 38 4838 c.4798G>T c.(4798-4800)GGA>TGA p.G1600* HSPG2_uc009vqd.2_Nonsense_Mutation_p.G1601* NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 1600 Laminin EGF-like 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTGGCATCTCCGTAGTAGCCA 0.587 NA 45 71 1.06522e-23 1.6288e-23 0.003214 1 0 CNR2 1269 broad.mit.edu 37 1 24202088 24202088 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:24202088G>T uc001bif.2 - 2 147 c.20C>A c.(19-21)ACA>AAA p.T7K NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 7 Extracellular (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GGCTATCTCTGTCACCCAGCA 0.483 NA 52 107 8.99859e-20 1.33331e-19 0.00361 1 0 C1orf63 57035 broad.mit.edu 37 1 25573269 25573269 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:25573269G>A uc001bjw.2 - 2 438 c.186C>T c.(184-186)TCC>TCT p.S62S NM_020317 NP_064713 Q9BUV0 CA063_HUMAN hypothetical protein LOC57035 62 Arg-rich. pancreas(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AACGGGACCTGGACTTGCTCC 0.652 NA 29 96 0 0 0.007291 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33956991 33956991 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:33956991A>G uc001bxj.3 + 6 1300 c.1133A>G c.(1132-1134)TAT>TGT p.Y378C ZSCAN20_uc001bxk.2_Missense_Mutation_p.Y324C|ZSCAN20_uc009vui.2_Missense_Mutation_p.Y378C NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 378 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CAATGTCGCTATAGGGTCAAA 0.577 NA 17 131 0 0 0.008871 0 0 GJA4 2701 broad.mit.edu 37 1 35260515 35260515 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:35260515G>A uc001bya.2 + 2 789 c.701G>A c.(700-702)CGC>CAC p.R234H GJA4_uc009vul.2_Missense_Mutation_p.R310H|GJA4_uc009vum.1_Missense_Mutation_p.R234H NM_002060 NP_002051 P35212 CXA4_HUMAN connexin 37 234 Cytoplasmic (Potential). cell-cell junction assembly integral to plasma membrane central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CTGCTGTGTCGCTGCCTCAGC 0.602 NA 12 58 0 0 0.001368 0 0 GNL2 29889 broad.mit.edu 37 1 38047903 38047903 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:38047903G>A uc001cbk.2 - 8 993 c.830C>T c.(829-831)CCA>CTA p.P277L GNL2_uc010oif.1_Missense_Mutation_p.P118L NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 277 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) AGCAAGTGTTGGATAATCCTG 0.433 NA 5 50 0 0 0.001168 0 0 DMBX1 127343 broad.mit.edu 37 1 46976208 46976208 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:46976208C>A uc001cpx.2 + 2 245 c.230C>A c.(229-231)GCG>GAG p.A77E DMBX1_uc001cpw.2_Missense_Mutation_p.A72E NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 77 Homeobox.|Interacts with OXT2 and is required for repressor activity (By similarity). 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) AGCCGCACAGCGTTCACGGCT 0.587 NA 10 41 0.000442599 0.000483003 0.006214 1 0 ORC1L 4998 broad.mit.edu 37 1 52841232 52841232 + Missense_Mutation SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:52841232T>C uc001ctt.2 - 15 2392 c.2173A>G c.(2173-2175)ATC>GTC p.I725V ORC1L_uc010oni.1_Missense_Mutation_p.I720V|ORC1L_uc001ctu.2_Missense_Mutation_p.I725V|ORC1L_uc009vzd.2_Missense_Mutation_p.I479V NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 725 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 CGCCTGCAGATGTCCAGGCAC 0.532 NA 40 73 0 0 0.006999 0 0 LRRC7 57554 broad.mit.edu 37 1 70504893 70504893 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:70504893C>G uc001dep.2 + 19 3302 c.3272C>G c.(3271-3273)CCA>CGA p.P1091R LRRC7_uc009wbg.2_Missense_Mutation_p.P375R|LRRC7_uc001deq.2_Missense_Mutation_p.P332R NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1091 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTTTCTCAGCCATCTGTGAAT 0.532 NA 34 66 0 0 0.002836 0 0 IFI44L 10964 broad.mit.edu 37 1 79101021 79101021 + Splice_Site SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:79101021G>T uc010oro.1 + 5 903 c.724_splice c.e5-1 p.Y242_splice IFI44L_uc010orp.1_Splice_Site|IFI44L_uc010orq.1_Splice_Site NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like cytoplasm 0 TTTTTTAACAGTATAGGATAT 0.348 NA 11 61 1.58986e-06 1.87085e-06 0.008291 1 0 GBP5 115362 broad.mit.edu 37 1 89726426 89726426 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:89726426C>A uc001dnc.2 - 12 2259 c.1722G>T c.(1720-1722)CAG>CAT p.Q574H GBP5_uc001dnd.2_Missense_Mutation_p.Q574H NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 574 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) TAACAGTCCTCTGGGCGTGCT 0.403 NA 26 103 1.88708e-17 2.72694e-17 0.008361 1 0 DPYD 1806 broad.mit.edu 37 1 98015199 98015199 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:98015199C>A uc001drv.2 - 12 1578 c.1441G>T c.(1441-1443)GAT>TAT p.D481Y NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 481 FAD (Potential). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CCAACGACATCACCACCTGCA 0.428 NA 17 88 3.41278e-10 4.4544e-10 0.00499 1 0 DPYD 1806 broad.mit.edu 37 1 98187196 98187196 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:98187196G>C uc001drv.2 - 5 490 c.353C>G c.(352-354)TCT>TGT p.S118C DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.S118C NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 118 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGGGTTGTCAGAAAATATCAT 0.338 NA 14 99 0 0 0.003163 0 0 OLFM3 118427 broad.mit.edu 37 1 102462361 102462361 + Silent SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:102462361C>G uc001dug.2 - 1 430 c.12G>C c.(10-12)ACG>ACC p.T4T OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GAAGGTTGGACGTCGCCTGCA 0.443 NA 10 57 0 0 0.006214 0 0 COL11A1 1301 broad.mit.edu 37 1 103471818 103471818 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:103471818C>A uc001dul.2 - 16 2055 c.1737G>T c.(1735-1737)AGG>AGT p.R579S COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.R591S|COL11A1_uc001dun.2_Missense_Mutation_p.R540S|COL11A1_uc009weh.2_Missense_Mutation_p.R463S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 579 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TAAGCCATACCCTTTTTCCAG 0.353 NA 10 67 1.08611e-07 1.31634e-07 0.000978 1 0 WDR47 22911 broad.mit.edu 37 1 109524457 109524457 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:109524457C>T uc001dwj.2 - 13 2672 c.2296G>A c.(2296-2298)GGC>AGC p.G766S WDR47_uc001dwl.2_Missense_Mutation_p.G774S|WDR47_uc001dwi.2_Missense_Mutation_p.G767S|WDR47_uc010ovf.1_Missense_Mutation_p.G691S NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 766 WD 4. ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ATCATCCAGCCACTCCAGGTA 0.383 NA 8 126 0 0 0.00308 0 0 ADORA3 140 broad.mit.edu 37 1 112045664 112045664 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:112045664C>T uc001ebh.3 - 1 1080 c.313G>A c.(313-315)GCT>ACT p.A105T ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Missense_Mutation_p.A105T NM_000677 NP_000668 P33765 AA3R_HUMAN adenosine A3 receptor isoform 2 105 Helical; Name=3; (By similarity). A -> T (in a colorectal cancer sample; somatic mutation). activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled p.A105T(1) ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) CGGTCCACAGCGATGGCCAGC 0.552 NA 4 41 0 0 0.009096 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 NA 4 69 0 0 0.001984 0 0 THEM4 117145 broad.mit.edu 37 1 151860831 151860831 + Missense_Mutation SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:151860831T>C uc001ezj.1 - 4 654 c.475A>G c.(475-477)ATG>GTG p.M159V THEM4_uc001ezk.1_RNA NM_053055 NP_444283 Q5T1C6 THEM4_HUMAN thioesterase superfamily member 4 159 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|ruffle membrane 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCATCAATCATGGTTGCAATG 0.398 NA 49 64 0 0 0.00361 0 0 RPTN 126638 broad.mit.edu 37 1 152127445 152127445 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:152127445G>T uc001ezs.1 - 3 2195 c.2130C>A c.(2128-2130)GGC>GGA p.G710G NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 710 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 AAGTTTGATGGCCCTGCTCTT 0.567 NA 190 188 4.72421e-73 7.83891e-73 0.00361 1 0 HRNR 388697 broad.mit.edu 37 1 152192519 152192519 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:152192519C>A uc001ezt.1 - 3 1662 c.1586G>T c.(1585-1587)GGA>GTA p.G529V NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 529 5. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCGGCTGTGTCCCAAAGATTG 0.567 NA 16 439 1.3612e-06 1.6126e-06 0.003163 1 0 CD1A 909 broad.mit.edu 37 1 158225078 158225078 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:158225078G>A uc001frt.2 + 2 796 c.263G>A c.(262-264)CGT>CAT p.R88H NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 88 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) ACATTATTCCGTATACGCACC 0.488 NA 18 74 0 0 0.00499 0 0 CD1C 911 broad.mit.edu 37 1 158262005 158262005 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:158262005G>T uc001fru.2 + 3 752 c.460G>T c.(460-462)GGC>TGC p.G154C CD1C_uc001frv.2_Translation_Start_Site NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 154 Extracellular (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) GCCATCTCCAGGCTGTGGAAG 0.458 NA 57 350 2.48909e-17 3.58701e-17 0.00361 1 0 OR10X1 128367 broad.mit.edu 37 1 158549373 158549373 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:158549373C>T uc010pin.1 - 1 317 c.317G>A c.(316-318)AGA>AAA p.R106K NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 106 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGAAATGCTTCTGTCCTTGGC 0.478 NA 7 140 0 0 0.004482 0 0 SPTA1 6708 broad.mit.edu 37 1 158627350 158627350 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:158627350G>T uc001fst.1 - 19 2921 c.2722C>A c.(2722-2724)CTG>ATG p.L908M NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 908 Spectrin 10. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GCTTCATGCAGGTCAGCCAGG 0.483 NA 24 271 1.85244e-09 2.35928e-09 0.00333 1 0 OR6K2 81448 broad.mit.edu 37 1 158670208 158670208 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:158670208G>C uc001fsu.1 - 1 235 c.235C>G c.(235-237)CCA>GCA p.P79A NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AGCATCTTTGGGATTGTGGCT 0.463 NA 24 98 0 0 0.00278 0 0 OR6K6 128371 broad.mit.edu 37 1 158724731 158724731 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:158724731C>G uc001fsw.1 + 1 126 c.126C>G c.(124-126)TTC>TTG p.F42L NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 42 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) AGTTCCTCTTCTCTATGTTCC 0.428 NA 22 249 0 0 0.002299 0 0 OR10J3 441911 broad.mit.edu 37 1 159283771 159283771 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:159283771G>T uc010piu.1 - 1 679 c.679C>A c.(679-681)CTT>ATT p.L227I NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) GCAATCTTAAGAATGGTGGAG 0.488 NA 92 97 1.40862e-40 2.31542e-40 0.00361 1 0 FCRLA 84824 broad.mit.edu 37 1 161681008 161681009 + Missense_Mutation DNP CC CC AT rs142998045 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:161681008_161681009CC>AT uc001gbe.2 + 4 554_555 c.312_313CC>AT c.(310-315)ATCCTC>ATATTC p.L105F FCRLA_uc001gbd.2_Missense_Mutation_p.L99F|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 82 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ACTGGCTGATCCTCCAAGGTCC 0.589 NA 28 28 0 0 0.004672 0 0 DDR2 4921 broad.mit.edu 37 1 162740157 162740157 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:162740157G>C uc001gcf.2 + 13 1824 c.1359G>C c.(1357-1359)ATG>ATC p.M453I DDR2_uc001gcg.2_Missense_Mutation_p.M453I NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 453 Cytoplasmic (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ATTCTAGCATGTTCAACAATA 0.517 NSCLC(161;314 2006 8283 19651 23192) NA 37 242 0 0 0.004878 0 0 PBX1 5087 broad.mit.edu 37 1 164761873 164761873 + Silent SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:164761873T>C uc001gct.2 + 3 666 c.408T>C c.(406-408)TCT>TCC p.S136S PBX1_uc010pku.1_Silent_p.S136S|PBX1_uc010pkv.1_Silent_p.S53S|PBX1_uc001gcs.2_Silent_p.S136S|PBX1_uc010pkw.1_Silent_p.S26S NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 136 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 cggcggcTTCTGGAGGGGCAG 0.478 NA T TCF3|EWSR1 pre B-ALL|myoepithelioma 11 61 0 0 0.001368 0 0 CD247 919 broad.mit.edu 37 1 167403267 167403267 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:167403267A>G uc001gei.3 - 6 528 c.383T>C c.(382-384)ATG>ACG p.M128T CD247_uc001gej.3_Missense_Mutation_p.M127T NM_198053 NP_932170 P20963 CD3Z_HUMAN T-cell receptor zeta chain isoform 1 precursor 128 Cytoplasmic (Potential).|ITAM 2. interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity 0 LUSC - Lung squamous cell carcinoma(543;0.236) CTCGCCTTTCATCCCAATCTC 0.507 Ovarian(192;1815 2869 36877 43334) NA 10 260 0 0 0.000978 0 0 BAT2L2 23215 broad.mit.edu 37 1 171505341 171505341 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:171505341G>T uc010pmg.1 + 14 2477 c.2211G>T c.(2209-2211)TGG>TGT p.W737C NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 737 Pro-rich. protein C-terminus binding 0 ATCCAAGGTGGCTCATGATGC 0.473 NA 22 24 1.22574e-08 1.53144e-08 0.002299 1 0 TNR 7143 broad.mit.edu 37 1 175292530 175292530 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:175292530A>T uc001gkp.1 - 21 4121 c.4040T>A c.(4039-4041)CTC>CAC p.L1347H TNR_uc009wwu.1_Missense_Mutation_p.L1347H NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1347 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCCTGCCATGAGACGGTGGTT 0.468 NA 11 110 0 0 0.001368 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659540 176659540 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:176659540C>T uc001gkz.2 + 5 3569 c.2405C>T c.(2404-2406)CCG>CTG p.P802L PAPPA2_uc001gky.1_Missense_Mutation_p.P802L|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 802 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCAGGGGCTCCGTTCACCAAC 0.567 NA 11 139 0 0 0.001368 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738905 176738905 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:176738905C>T uc001gkz.2 + 16 5650 c.4486C>T c.(4486-4488)CCA>TCA p.P1496S PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1496 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TTGTGTCCCACCAGCCAAGCT 0.512 NA 43 187 0 0 0.00874 0 0 PAPPA2 60676 broad.mit.edu 37 1 176759022 176759022 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:176759022C>A uc001gkz.2 + 18 5957 c.4793C>A c.(4792-4794)CCC>CAC p.P1598H PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1598 Sushi 4. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGTGAGCCACCCCCTCCTGTG 0.478 NA 33 128 1.21669e-08 1.52376e-08 0.003271 1 0 FAM5B 57795 broad.mit.edu 37 1 177250481 177250481 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:177250481C>T uc001glf.2 + 8 2481 c.2169C>T c.(2167-2169)CTC>CTT p.L723L FAM5B_uc001glg.2_Silent_p.L618L NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 723 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TCATTGAGCTCAGGGACCGGG 0.537 NA 25 162 0 0 0.00278 0 0 RGS8 85397 broad.mit.edu 37 1 182640815 182640815 + Translation_Start_Site SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:182640815C>A uc010pnw.1 - 2 132 c.-126G>T c.(-128--124)CAGGC>CATGC RGS8_uc001gpn.1_Translation_Start_Site|RGS8_uc001gpm.1_Missense_Mutation_p.Q19H NM_001102450 NP_001095920 P57771 RGS8_HUMAN regulator of G-protein signalling 8 isoform 2 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1) 1 TCCTCATGGCCTGAGGGTCTT 0.463 Ovarian(189;1262 3804 41973) NA 44 66 2.40228e-13 3.36063e-13 0.003214 1 0 F13B 2165 broad.mit.edu 37 1 197026189 197026189 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:197026189C>T uc001gtt.1 - 7 1169 c.1125G>A c.(1123-1125)GAG>GAA p.E375E NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 375 Sushi 6. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TACAAGTTATCTCATTCGATC 0.368 NA 26 48 0 0 0.00632 0 0 ASPM 259266 broad.mit.edu 37 1 197070480 197070480 + Missense_Mutation SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:197070480T>C uc001gtu.2 - 18 8158 c.7901A>G c.(7900-7902)CAT>CGT p.H2634R ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.H482R NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2634 IQ 28. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GGCTTTACAATGCTTCTGAAT 0.378 NA 13 32 0 0 0.001368 0 0 NAV1 89796 broad.mit.edu 37 1 201777944 201777944 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:201777944C>A uc001gwu.2 + 19 4490 c.4143C>A c.(4141-4143)CGC>CGA p.R1381R NAV1_uc001gwx.2_Silent_p.R990R NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1384 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CTTCCCCACGCCGCTCCCTAG 0.567 NA 23 119 2.39556e-15 3.38728e-15 0.00278 1 0 OPTC 26254 broad.mit.edu 37 1 203468946 203468946 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:203468946C>A uc001gzu.1 + 5 815 c.699C>A c.(697-699)CTC>CTA p.L233L NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 233 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) TAAATCGGCTCCAGAGCTCGG 0.443 NA 27 75 9.04412e-07 1.07629e-06 0.004656 1 0 NFASC 23114 broad.mit.edu 37 1 204924038 204924038 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:204924038C>A uc001hbj.2 + 7 822 c.494C>A c.(493-495)CCG>CAG p.P165Q NFASC_uc001hbh.2_Missense_Mutation_p.P165Q|NFASC_uc010pqz.1_Missense_Mutation_p.P159Q|NFASC_uc010pra.1_Missense_Mutation_p.P159Q|NFASC_uc001hbi.2_Missense_Mutation_p.P159Q|NFASC_uc009xbg.1_Missense_Mutation_p.P232Q|NFASC_uc010prb.1_Missense_Mutation_p.P159Q|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_5'Flank NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 165 Extracellular (Potential).|Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGCAACCCCCCGCCTGGACTT 0.567 NA 74 220 1.76421e-39 2.87299e-39 0.00361 1 0 USH2A 7399 broad.mit.edu 37 1 215847560 215847560 + Missense_Mutation SNP A A C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:215847560A>C uc001hku.1 - 63 14080 c.13693T>G c.(13693-13695)TAT>GAT p.Y4565D NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4565 Fibronectin type-III 31.|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) AAGAGGGTATAATTGATGATA 0.403 NA HNSCC(13;0.011) 8 178 0 0 0.004482 0 0 MIA3 375056 broad.mit.edu 37 1 222838929 222838929 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:222838929G>C uc001hnl.2 + 28 5701 c.5692G>C c.(5692-5694)GAC>CAC p.D1898H MIA3_uc001hnm.2_Missense_Mutation_p.D776H NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1898 Cytoplasmic (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) CACTAGCCAGGACTGTTCACA 0.478 NA 13 172 0 0 0.001855 0 0 CNIH3 149111 broad.mit.edu 37 1 224804820 224804820 + Translation_Start_Site SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:224804820G>T uc001hos.1 + 1 642 c.-56G>T c.(-58--54)GAGGC>GATGC NM_152495 NP_689708 Q8TBE1 CNIH3_HUMAN cornichon homolog 3 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane 0 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) CCTCTAGGGAGGCATCGGGCT 0.647 NA 85 188 1.11057e-38 1.80297e-38 0.00361 1 0 RYR2 6262 broad.mit.edu 37 1 237819198 237819198 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:237819198G>T uc001hyl.1 + 53 8163 c.8043G>T c.(8041-8043)ATG>ATT p.M2681I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2681 Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats. 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) CAGACTACATGGAGTCAAATT 0.423 NA 16 20 1.3612e-06 1.6126e-06 0.003163 1 0 ZP4 57829 broad.mit.edu 37 1 238048824 238048824 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:238048824G>C uc001hym.2 - 8 1027 c.1027C>G c.(1027-1029)CGG>GGG p.R343G LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 343 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ATGGGATCCCGAAGCAACTTC 0.498 NSCLC(166;160 2029 11600 18754 19936) NA 5 75 0 0 0.000602 0 0 OR2G2 81470 broad.mit.edu 37 1 247752559 247752559 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:247752559G>C uc010pyy.1 + 1 898 c.898G>C c.(898-900)GTG>CTG p.V300L NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GATCAAGGAGGTGAAAGGGGC 0.363 NA 47 125 0 0 0.00361 0 0 OR6F1 343169 broad.mit.edu 37 1 247875588 247875588 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:247875588G>C uc001idj.1 - 1 470 c.470C>G c.(469-471)GCA>GGA p.A157G NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGTGGGCACTGCAATGGCCAC 0.597 NA 22 87 0 0 0.002299 0 0 OR2L13 284521 broad.mit.edu 37 1 248262885 248262885 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:248262885C>T uc001ids.2 + 3 545 c.208C>T c.(208-210)CTG>TTG p.L70L NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTTATGGACCTGATGTACAT 0.547 NA 36 188 0 0 0.004289 0 0 OR2T34 127068 broad.mit.edu 37 1 248737448 248737448 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr1:248737448G>T uc001iep.1 - 1 611 c.611C>A c.(610-612)ACG>AAG p.T204K NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCACAGGTACGTGAGCATCTT 0.517 NA 85 497 3.7744e-50 6.22361e-50 0.00361 1 0 TUBB8 347688 broad.mit.edu 37 10 93213 93213 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:93213G>A uc001ifi.2 - 4 1119 c.1119C>T c.(1117-1119)GCC>GCT p.A373A TUBB8_uc009xhe.2_Silent_p.A336A|TUBB8_uc010pzs.1_Silent_p.A301A NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 373 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GTTCCTGGATGGCCGTATTAT 0.537 Pancreas(192;2041 3010 9013 18103) NA 22 124 0 0 0.005443 0 0 CALML5 51806 broad.mit.edu 37 10 5541168 5541168 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:5541168G>A uc001iic.2 - 1 366 c.234C>T c.(232-234)GCC>GCT p.A78A NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN calmodulin-like 5 78 EF-hand 3. epidermis development|signal transduction calcium ion binding|protein binding 0 CCTCCAGGCCGGCCCTGGCCT 0.682 GBM(149;1055 3356 43077) NA 6 44 0 0 0.004007 0 0 GATA3 2625 broad.mit.edu 37 10 8115719 8115719 + Silent SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:8115719T>A uc001ika.2 + 6 1622 c.1065T>A c.(1063-1065)ACT>ACA p.T355T GATA3_uc001ijz.2_Silent_p.T356T NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 355 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding p.M357fs*14(1) breast(17)|ovary(3)|central_nervous_system(2) 22 GACCCCTGACTATGAAGAAGG 0.393 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 10 49 0 0 0.006214 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14950843 14950843 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:14950843C>T uc001inn.2 - 14 1728 c.1643G>A c.(1642-1644)AGT>AAT p.S548N DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Missense_Mutation_p.S201N|DCLRE1C_uc001inl.2_Missense_Mutation_p.S428N|DCLRE1C_uc009xji.2_Missense_Mutation_p.S433N|DCLRE1C_uc001inm.2_Missense_Mutation_p.S428N|DCLRE1C_uc001ino.2_Missense_Mutation_p.S433N|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.S428N|DCLRE1C_uc001inq.2_Missense_Mutation_p.S428N|DCLRE1C_uc001inr.2_Missense_Mutation_p.S433N NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 548 S->A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-553; A-561 and A-562. DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 CCAGCCTTGACTTCCTTGTTC 0.443 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ 24 100 0 0 0.00278 0 0 FAM171A1 221061 broad.mit.edu 37 10 15290663 15290663 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:15290663C>A uc001iob.2 - 5 736 c.729G>T c.(727-729)GCG>GCT p.A243A NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 243 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 ACCGCCACGCCGCGACATAGG 0.557 NA 20 73 2.4624e-09 3.11351e-09 0.008871 1 0 CUBN 8029 broad.mit.edu 37 10 16942660 16942660 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:16942660C>G uc001ioo.2 - 53 8426 c.8374G>C c.(8374-8376)GGT>CGT p.G2792R CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.G148R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2792 CUB 20. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TAAAATCCACCACCTTGCAAT 0.368 NA 35 71 0 0 0.006999 0 0 RET 5979 broad.mit.edu 37 10 43606878 43606878 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:43606878C>G uc001jal.2 + 7 1677 c.1487C>G c.(1486-1488)GCC>GGC p.A496G RET_uc001jak.1_Missense_Mutation_p.A496G|RET_uc010qez.1_Missense_Mutation_p.A242G NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 496 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) TCTAGGCAGGCCCAGGCCCAG 0.647 Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 5 30 0 0 0.000602 0 0 CDHR1 92211 broad.mit.edu 37 10 85968063 85968063 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:85968063C>A uc001kcv.2 + 11 1097 c.1097C>A c.(1096-1098)TCC>TAC p.S366Y CDHR1_uc001kcw.2_Missense_Mutation_p.S366Y|CDHR1_uc009xst.2_Missense_Mutation_p.S125Y NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 366 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 TTTGAGCTGTCCATGAATGAG 0.597 NA 9 55 0.00448238 0.00475349 0.004482 1 0 PAPSS2 9060 broad.mit.edu 37 10 89503231 89503231 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:89503231C>T uc001kex.2 + 10 1572 c.1309C>T c.(1309-1311)CCG>TCG p.P437S PAPSS2_uc001kew.2_Missense_Mutation_p.P442S NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 437 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CTACAAGCACCCGGTCCTCCT 0.607 NA 14 96 0 0 0.00245 0 0 CC2D2B 387707 broad.mit.edu 37 10 97773580 97773580 + Silent SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:97773580T>C uc001kll.2 + 5 553 c.354T>C c.(352-354)TTT>TTC p.F118F uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Silent_p.F118F NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 118 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) TGATTCCTTTTGTGCCTAATA 0.199 NA 11 22 0 0 0.003163 0 0 TLL2 7093 broad.mit.edu 37 10 98180730 98180730 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:98180730G>T uc001kml.1 - 7 1132 c.906C>A c.(904-906)GCC>GCA p.A302A TLL2_uc009xvf.1_Silent_p.A250A NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 302 Metalloprotease (By similarity). 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) AGGTGTTCCGGGCGTAGTGCA 0.507 NA 39 187 2.2871e-25 3.54871e-25 0.007835 1 0 PDCD11 22984 broad.mit.edu 37 10 105166456 105166456 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:105166456C>T uc001kwy.1 + 7 866 c.779C>T c.(778-780)TCA>TTA p.S260L NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 260 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GTTGGTCACTCAGAGGTTTCT 0.478 NA 15 81 0 0 0.003163 0 0 C10orf90 118611 broad.mit.edu 37 10 128192773 128192773 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:128192773G>A uc001ljq.2 - 3 1117 c.996C>T c.(994-996)GGC>GGT p.G332G C10orf90_uc001ljp.2_Silent_p.G285G|C10orf90_uc010qum.1_Silent_p.G429G|C10orf90_uc009yao.2_Silent_p.G429G|C10orf90_uc001ljs.1_Silent_p.G285G NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 332 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TCCAGCGCTGGCCTACGAGGT 0.547 NA OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 79 0 0 0.001368 0 0 NLRP6 171389 broad.mit.edu 37 11 284376 284376 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:284376C>A uc010qvs.1 + 6 2348 c.2348C>A c.(2347-2349)CCG>CAG p.P783Q NLRP6_uc010qvt.1_Missense_Mutation_p.P782Q NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 783 cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CTAGCCTGGCCGCAGTGCAGG 0.711 NA 3 29 0.00024832 0.000272685 0.009096 1 0 NLRP14 338323 broad.mit.edu 37 11 7059831 7059831 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:7059831C>T uc001mfb.1 + 2 337 c.14C>T c.(13-15)TCA>TTA p.S5L NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 5 DAPIN. 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) GCAGATTCATCATCATCTTCT 0.368 NA 12 100 0 0 0.000978 0 0 NLRP10 338322 broad.mit.edu 37 11 7982770 7982770 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:7982770G>A uc001mfv.1 - 2 406 c.389C>T c.(388-390)CCC>CTC p.P130L NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 130 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCTGAGCTGGGCTTGGCCAC 0.562 NA 12 60 0 0 0.001855 0 0 NAV2 89797 broad.mit.edu 37 11 20070445 20070445 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:20070445G>A uc010rdm.1 + 16 4504 c.4143G>A c.(4141-4143)AAG>AAA p.K1381K NAV2_uc001mpp.2_Silent_p.K1294K|NAV2_uc001mpr.3_Silent_p.K1358K|NAV2_uc001mpt.2_Silent_p.K444K|NAV2_uc009yhx.2_Silent_p.K444K|NAV2_uc009yhy.1_Silent_p.K357K|NAV2_uc009yhz.2_Silent_p.K40K NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1381 Ser-rich. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TCTACAGCAAGAATGTGGACC 0.612 NA 32 101 0 0 0.002445 0 0 BBOX1 8424 broad.mit.edu 37 11 27077157 27077157 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:27077157G>T uc001mre.1 + 3 548 c.180G>T c.(178-180)GTG>GTT p.V60V BBOX1_uc009yih.1_Silent_p.V60V|BBOX1_uc001mrg.1_Silent_p.V60V NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 60 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) CTCTTGATGTGAACATTGGAA 0.408 NA 14 39 1.05317e-09 1.35776e-09 0.00245 1 0 MYBPC3 4607 broad.mit.edu 37 11 47360146 47360146 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:47360146C>T uc001nfa.3 - 22 2288 c.2233G>A c.(2233-2235)GAT>AAT p.D745N MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 744 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) ACGCCCTCATCTTCCTTCTCT 0.647 NA 24 30 0 0 0.003954 0 0 PTPRJ 5795 broad.mit.edu 37 11 48177639 48177639 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:48177639A>G uc001ngp.3 + 21 3761 c.3406A>G c.(3406-3408)ATT>GTT p.I1136V NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1136 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 ATATGCCATCATTATGTTGAC 0.313 NA 17 147 0 0 0.004007 0 0 TRIM48 79097 broad.mit.edu 37 11 55033135 55033135 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:55033135C>A uc010rid.1 + 3 605 c.519C>A c.(517-519)AAC>AAA p.N173K NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 157 intracellular zinc ion binding 0 ATCAGAGAAACCTGAATGTGG 0.408 NA 8 62 0.00829132 0.00873995 0.008291 1 0 OR4A15 81328 broad.mit.edu 37 11 55136282 55136282 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:55136282C>A uc010rif.1 + 1 923 c.923C>A c.(922-924)CCC>CAC p.P308H NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 308 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTTATAACTCCCATGCTGAAC 0.383 NA 71 178 6.00099e-30 9.47904e-30 0.00361 1 0 OR4C15 81309 broad.mit.edu 37 11 55322196 55322196 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:55322196C>T uc010rig.1 + 1 414 c.414C>T c.(412-414)TCC>TCT p.S138S NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTGTAGACTCCCTCTATGTGA 0.488 NA HNSCC(20;0.049) 30 162 0 0 0.008361 0 0 OR4C15 81309 broad.mit.edu 37 11 55322292 55322292 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:55322292C>T uc010rig.1 + 1 510 c.510C>T c.(508-510)GCC>GCT p.A170A NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCCTCACAGCCATGGCCTATG 0.493 NA HNSCC(20;0.049) 10 116 0 0 0.006214 0 0 OR4S2 219431 broad.mit.edu 37 11 55419211 55419211 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:55419211C>A uc001nhs.1 + 1 832 c.832C>A c.(832-834)CCC>ACC p.P278T NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) CATTATCACTCCCATGTTAAA 0.408 NA 50 165 5.13769e-22 7.83311e-22 0.00361 1 0 OR5L2 26338 broad.mit.edu 37 11 55595447 55595447 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:55595447C>T uc001nhy.1 + 1 753 c.753C>T c.(751-753)TCC>TCT p.S251S NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TCACTGTCTCCCATGGAACAA 0.498 NA HNSCC(27;0.073) 26 87 0 0 0.007291 0 0 SERPING1 710 broad.mit.edu 37 11 57379371 57379371 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:57379371C>T uc001nkp.1 + 7 1402 c.1211C>T c.(1210-1212)ACG>ATG p.T404M SERPING1_uc001nkq.1_Missense_Mutation_p.T367M|SERPING1_uc010rju.1_Missense_Mutation_p.T352M|SERPING1_uc010rjv.1_Missense_Mutation_p.T409M|SERPING1_uc001nkr.1_Missense_Mutation_p.T404M|SERPING1_uc009ymi.1_Missense_Mutation_p.T413M|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Missense_Mutation_p.T95M NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 404 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 ATCAAAGTGACGACCAGCCAG 0.507 NA Hereditary_Angioedema 17 79 0 0 0.006122 0 0 GLYAT 10249 broad.mit.edu 37 11 58478160 58478160 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:58478160G>A uc001nnb.2 - 5 546 c.391C>T c.(391-393)CGC>TGC p.R131C GLYAT_uc001nnc.2_Missense_Mutation_p.R131C NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 131 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) TAGAGAATGCGTTGTGTTTGT 0.428 NA 9 135 0 0 0.004482 0 0 ATG2A 23130 broad.mit.edu 37 11 64662780 64662780 + Silent SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:64662780G>C uc001obx.2 - 40 5677 c.5562C>G c.(5560-5562)GCC>GCG p.A1854A uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Silent_p.A619A NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1854 protein binding ovary(1)|central_nervous_system(1) 2 CTGTGTCGTAGGCCTTGGCCA 0.716 NA 8 55 0 0 0.006214 0 0 TPCN2 219931 broad.mit.edu 37 11 68822749 68822749 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:68822749C>G uc001oos.2 + 4 474 c.358C>G c.(358-360)CCG>GCG p.P120A TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.P120A NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 120 Extracellular (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCCCTGGGAGCCGCCCTGCGG 0.637 NA 19 96 0 0 0.008871 0 0 PPFIA1 8500 broad.mit.edu 37 11 70171605 70171605 + Splice_Site SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:70171605G>T uc001opo.2 + 5 730 c.532_splice c.e5-1 p.V178_splice PPFIA1_uc001opn.1_Splice_Site_p.V178_splice|PPFIA1_uc001opp.2_Splice_Site|PPFIA1_uc001opq.1_5'Flank NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TTTATTTTCAGGTGAGAGAGC 0.328 NA 42 79 1.34996e-11 1.82072e-11 0.009718 1 0 C2CD3 26005 broad.mit.edu 37 11 73820134 73820134 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:73820134C>A uc001ouu.2 - 12 2134 c.1907G>T c.(1906-1908)TGG>TTG p.W636L NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 636 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GGAATTCCACCAGTGCTCTAT 0.438 NA 30 42 2.4375e-19 3.60147e-19 0.007291 1 0 C2CD3 26005 broad.mit.edu 37 11 73844552 73844552 + Missense_Mutation SNP T T C rs138239571 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:73844552T>C uc001ouu.2 - 6 1233 c.1006A>G c.(1006-1008)ATG>GTG p.M336V C2CD3_uc001ouv.2_Missense_Mutation_p.M336V NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 336 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) CTTGATTTCATTGCAGAAATC 0.403 NA 11 34 0 0 0.008291 0 0 INTS4 92105 broad.mit.edu 37 11 77702195 77702195 + Missense_Mutation SNP C C T rs144227709 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:77702195C>T uc001oys.2 - 2 233 c.205G>A c.(205-207)GTA>ATA p.V69I INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.V69I|INTS4_uc001oyv.1_RNA NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 69 HEAT 1. 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) ACTCCCTCTACGCTTTCCGCC 0.463 NA 11 109 0 0 0.001855 0 0 PRCP 5547 broad.mit.edu 37 11 82549566 82549566 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:82549566C>T uc001ozs.2 - 8 1250 c.1137G>A c.(1135-1137)ATG>ATA p.M379I PRCP_uc001ozr.2_Missense_Mutation_p.M400I NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 379 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 GAGGTTCAAACATGTCATCGA 0.398 NA 12 61 0 0 0.001368 0 0 HEPHL1 341208 broad.mit.edu 37 11 93822121 93822121 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:93822121G>A uc001pep.2 + 12 2438 c.2281G>A c.(2281-2283)GCA>ACA p.A761T uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 761 Plastocyanin-like 5.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GCACGTGGACGCAAGAGGGGA 0.542 NA 9 83 0 0 0.004482 0 0 PGR 5241 broad.mit.edu 37 11 100933199 100933199 + Nonsense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:100933199T>A uc001pgh.2 - 4 2934 c.2191A>T c.(2191-2193)AAG>TAG p.K731* PGR_uc001pgg.2_Nonsense_Mutation_p.K112*|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 731 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTAGACCACTTGACTACTGAA 0.333 Pancreas(124;2271 2354 21954 22882) NA 52 112 0 0 0.00361 0 0 SIK2 23235 broad.mit.edu 37 11 111594504 111594504 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:111594504C>T uc001plt.2 + 15 2550 c.2432C>T c.(2431-2433)GCT>GTT p.A811V NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 811 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 CCCCGGGCTGCTCCTCCTCTG 0.512 NA 27 132 0 0 0.005443 0 0 SIK2 23235 broad.mit.edu 37 11 111594549 111594549 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:111594549C>T uc001plt.2 + 15 2595 c.2477C>T c.(2476-2478)CCA>CTA p.P826L NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 826 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 ccgccaccgccaccaccccct 0.517 NA 18 47 0 0 0.00499 0 0 CBL 867 broad.mit.edu 37 11 119149351 119149351 + Silent SNP A A G rs34732429 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:119149351A>G uc001pwe.2 + 9 1497 c.1359A>G c.(1357-1359)CCA>CCG p.P453P NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 453 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CTCCCTCCCCAAATTATGATG 0.478 NA CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 16 65 0 0 0.006122 0 0 MCAM 4162 broad.mit.edu 37 11 119182639 119182639 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:119182639C>A uc001pwf.2 - 10 1193 c.1164G>T c.(1162-1164)AGG>AGT p.R388S MCAM_uc001pwg.1_5'Flank NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 388 Ig-like C2-type 2.|Extracellular (Potential). anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) GCACAGGCCCCCTTTCCAGCA 0.632 NA 22 119 5.35356e-11 7.07531e-11 0.00278 1 0 OR10G9 219870 broad.mit.edu 37 11 123894335 123894335 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:123894335G>T uc010sad.1 + 1 616 c.616G>T c.(616-618)GCC>TCC p.A206S NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 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;0.0399) TGGGCTAGTGGCCTCGGGCTG 0.547 NA 29 204 8.58068e-18 1.25026e-17 0.007291 1 0 OR8B8 26493 broad.mit.edu 37 11 124310129 124310129 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:124310129G>T uc010sal.1 - 1 853 c.853C>A c.(853-855)CTC>ATC p.L285I NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AATGGGTTGAGCATGGGCACC 0.423 NA 27 78 3.73988e-18 5.46438e-18 0.00632 1 0 STT3A 3703 broad.mit.edu 37 11 125478177 125478177 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr11:125478177G>T uc001qcd.2 + 9 1064 c.954G>T c.(952-954)ATG>ATT p.M318I STT3A_uc009zbm.2_Missense_Mutation_p.M318I|STT3A_uc001qce.2_Missense_Mutation_p.M318I|STT3A_uc010sbg.1_Missense_Mutation_p.M226I|STT3A_uc009zbn.2_Missense_Mutation_p.M92I NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 318 Helical; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) CTCTCCTCATGCTGACAGGTA 0.328 NA 33 70 3.11337e-16 4.43804e-16 0.002836 1 0 Unknown 0 broad.mit.edu 37 12 92018 92018 + Missense_Mutation SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:92018T>C uc010sdi.1 - 2 320 c.292A>G c.(292-294)AGT>GGT p.S98G uc010sdj.1_RNA SubName: Full=DEAD/H box polypeptide 11 like 11; NA GACTCCACACTCTCCTGGGTT 0.592 NA 3 9 0 0 0.004672 0 0 TULP3 7289 broad.mit.edu 37 12 3040232 3040232 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:3040232C>T uc010seh.1 + 6 603 c.522C>T c.(520-522)GCC>GCT p.A174A TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Silent_p.A174A|TULP3_uc010sei.1_Silent_p.A31A NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 174 TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1). G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CTGCTACTGCCGCCCAACCAG 0.488 NA 34 122 0 0 0.005524 0 0 CD163 9332 broad.mit.edu 37 12 7639341 7639341 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:7639341C>T uc001qsz.3 - 10 2340 c.2212G>A c.(2212-2214)GGC>AGC p.G738S CD163_uc001qta.3_Missense_Mutation_p.G738S|CD163_uc009zfw.2_Missense_Mutation_p.G771S NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 738 SRCR 7.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CCCCAGGAGCCCTCATGATAG 0.517 NA 46 123 0 0 0.00361 0 0 CD163 9332 broad.mit.edu 37 12 7640527 7640527 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:7640527G>C uc001qsz.3 - 7 1705 c.1577C>G c.(1576-1578)TCT>TGT p.S526C CD163_uc001qta.3_Missense_Mutation_p.S526C|CD163_uc009zfw.2_Missense_Mutation_p.S526C NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 526 SRCR 5.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CCCCAGGATAGAGACAACTGT 0.527 NA 5 88 0 0 0.000602 0 0 CLEC4C 170482 broad.mit.edu 37 12 7882323 7882323 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:7882323C>A uc001qtg.1 - 6 685 c.511G>T c.(511-513)GGT>TGT p.G171C CLEC4C_uc001qth.1_Missense_Mutation_p.G171C|CLEC4C_uc001qti.1_Missense_Mutation_p.G140C NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 171 Extracellular (Potential).|C-type lectin. innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) TTGGGTTCACCTGAGTGCCAG 0.448 NA 36 148 3.09479e-21 4.67775e-21 0.006999 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21069086 21069086 + Nonsense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:21069086G>T uc001rek.2 + 15 2140 c.2014G>T c.(2014-2016)GAA>TAA p.E672* SLCO1B3_uc001rel.2_Nonsense_Mutation_p.E672*|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 672 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AGCAAACTTAGAATTCTTAAA 0.318 NA 31 34 5.77227e-19 8.5048e-19 0.008361 1 0 ABCC9 10060 broad.mit.edu 37 12 21970206 21970206 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:21970206C>A uc001rfi.1 - 31 3827 c.3807G>T c.(3805-3807)TTG>TTT p.L1269F ABCC9_uc001rfh.2_Missense_Mutation_p.L1269F|ABCC9_uc001rfj.1_Missense_Mutation_p.L1233F NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1269 Cytoplasmic (Potential).|ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCAGGTCAGCCAAGTTCCTCA 0.378 NA 19 152 1.37522e-17 1.99275e-17 0.007413 1 0 CMAS 55907 broad.mit.edu 37 12 22208541 22208542 + Missense_Mutation DNP GG GG TT TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:22208541_22208542GG>TT uc001rfm.2 + 3 635_636 c.556_557GG>TT c.(556-558)GGA>TTA p.G186L CMAS_uc001rfn.2_RNA NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN cytidine monophospho-N-acetylneuraminic acid 186 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity ovary(1)|pancreas(1)|skin(1) 3 AATTCAGAAAGGAGGTAATCTC 0.342 NA 32 56 0 0 0.004672 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T rs121913530 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:25398285C>T uc001rgp.1 - 2 215 c.34G>A c.(34-36)GGT>AGT p.G12S KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 17 18 0 0 0.00499 0 0 ARNTL2 56938 broad.mit.edu 37 12 27571064 27571064 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:27571064G>T uc001rht.1 + 16 1727 c.1709G>T c.(1708-1710)GGG>GTG p.G570V ARNTL2_uc001rhw.2_Missense_Mutation_p.G533V|ARNTL2_uc010sjp.1_Intron|ARNTL2_uc001rhu.1_Missense_Mutation_p.G556V|ARNTL2_uc009zji.1_Missense_Mutation_p.G536V|ARNTL2_uc001rhv.1_Missense_Mutation_p.G522V|uc001rhx.2_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 570 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) TCTGAAATGGGGGAGCTAGAG 0.458 NA 13 96 3.41278e-10 4.4544e-10 0.00499 1 0 C12orf35 55196 broad.mit.edu 37 12 32140239 32140239 + Missense_Mutation SNP A A C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:32140239A>C uc001rks.2 + 5 5483 c.5069A>C c.(5068-5070)AAA>ACA p.K1690T C12orf35_uc001rkt.2_RNA NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1690 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) AGGACACAGAAAGACAGCCAA 0.299 NA 9 46 0 0 0.001368 0 0 TMEM117 84216 broad.mit.edu 37 12 44782260 44782260 + Silent SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:44782260A>T uc001rod.2 + 8 1416 c.1350A>T c.(1348-1350)CGA>CGT p.R450R TMEM117_uc001roe.2_Silent_p.R346R|TMEM117_uc009zkc.2_3'UTR NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 450 endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) GAATCACTCGAGAAAACACCC 0.423 NA 11 138 0 0 0.000978 0 0 KRT82 3888 broad.mit.edu 37 12 52797629 52797629 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:52797629C>T uc001sai.1 - 2 591 c.476G>A c.(475-477)AGG>AAG p.R159K NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 159 Linker 1.|Rod. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) CTGGCAGCACCTCTGCTGCTG 0.582 NA 17 61 0 0 0.00499 0 0 KRT6A 3853 broad.mit.edu 37 12 52881579 52881579 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:52881579G>T uc001sam.2 - 9 1829 c.1620C>A c.(1618-1620)AGC>AGA p.S540R NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 540 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton p.S540I(1) ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) CTCCAACAGAGCTGAGGCCAC 0.587 NA 43 53 3.54561e-26 5.51772e-26 0.009718 1 0 DNAJC14 85406 broad.mit.edu 37 12 56222188 56222188 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:56222188T>A uc001shx.1 - 2 459 c.255A>T c.(253-255)AGA>AGT p.R85S DNAJC14_uc001shu.1_Missense_Mutation_p.R85S|DNAJC14_uc009zob.1_Missense_Mutation_p.R85S|DNAJC14_uc001shy.1_Missense_Mutation_p.R85S NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 85 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 CCTCTGCATCTCTAGGTGGTC 0.557 NA 33 245 0 0 0.002445 0 0 R3HDM2 22864 broad.mit.edu 37 12 57662237 57662237 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:57662237G>A uc009zpm.1 - 16 1872 c.1837C>T c.(1837-1839)CCA>TCA p.P613S R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.P308S|R3HDM2_uc001snr.2_Missense_Mutation_p.P340S|R3HDM2_uc001sns.2_Missense_Mutation_p.P613S|R3HDM2_uc001snt.2_Missense_Mutation_p.P627S|R3HDM2_uc009zpn.1_Intron NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 613 Gln-rich. nucleus nucleic acid binding ovary(2) 2 CTACCCACTGGAACCTGGGTG 0.532 NA 21 55 0 0 0.001882 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58025111 58025111 + Missense_Mutation SNP A A C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:58025111A>C uc001spg.1 - 3 687 c.255T>G c.(253-255)AGT>AGG p.S85R B4GALNT1_uc010sru.1_Intron|B4GALNT1_uc010srv.1_Missense_Mutation_p.S85R|B4GALNT1_uc001sph.2_Missense_Mutation_p.S85R|B4GALNT1_uc001spi.2_Missense_Mutation_p.S85R|B4GALNT1_uc010srw.1_Missense_Mutation_p.S162R NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 85 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGCCCCCCCCACTGGACTCAC 0.582 NA 19 113 0 0 0.003954 0 0 TBC1D15 64786 broad.mit.edu 37 12 72233547 72233547 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:72233547G>T uc001swu.2 + 1 61 c.52G>T c.(52-54)GCA>TCA p.A18S TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_5'UTR|TBC1D15_uc001swv.2_Missense_Mutation_p.A18S|TBC1D15_uc001sww.2_5'UTR NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 Error:Variant_position_missing_in_Q8TC07_after_alignment protein binding|Rab GTPase activator activity 0 TCATTACCAGGCACGCGCAGG 0.582 NA 10 38 6.40141e-05 7.16413e-05 0.000978 1 0 NAV3 89795 broad.mit.edu 37 12 78225320 78225320 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:78225320C>A uc001syp.2 + 1 252 c.79C>A c.(79-81)CCA>ACA p.P27T NAV3_uc001syo.2_Missense_Mutation_p.P27T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 27 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCTTCCGATACCAAATCTTGG 0.458 NA HNSCC(70;0.22) 75 143 2.10328e-26 3.28287e-26 0.00361 1 0 NAV3 89795 broad.mit.edu 37 12 78443862 78443862 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:78443862G>A uc001syp.2 + 10 2286 c.2113G>A c.(2113-2115)GGG>AGG p.G705R NAV3_uc001syo.2_Missense_Mutation_p.G705R|NAV3_uc010sub.1_Missense_Mutation_p.G205R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 705 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAGTCTTCGTGGGACTCAGAT 0.333 NA HNSCC(70;0.22) 6 41 0 0 0.001984 0 0 RASSF9 9182 broad.mit.edu 37 12 86199740 86199740 + Silent SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:86199740T>C uc001taf.1 - 2 387 c.48A>G c.(46-48)AGA>AGG p.R16R NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 16 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 TAGTTGGAGATCTGAAAGAAA 0.378 NA 11 45 0 0 0.008291 0 0 APAF1 317 broad.mit.edu 37 12 99093342 99093342 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:99093342A>G uc001tfz.2 + 17 3038 c.2461A>G c.(2461-2463)ATC>GTC p.I821V APAF1_uc001tfy.2_Missense_Mutation_p.I810V|APAF1_uc001tga.2_Missense_Mutation_p.I810V|APAF1_uc001tgb.2_Missense_Mutation_p.I821V|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.I230V NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 821 WD 5. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) AAAAAATAAAATCTTTGTAAG 0.328 NA 7 51 0 0 0.004482 0 0 ACACB 32 broad.mit.edu 37 12 109612000 109612000 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:109612000C>T uc001tob.2 + 7 1300 c.1181C>T c.(1180-1182)ACG>ATG p.T394M ACACB_uc001toc.2_Missense_Mutation_p.T394M NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 394 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GTCGCCCAGACGCTACAGGTC 0.602 NA 4 19 0 0 0.000602 0 0 RBM19 9904 broad.mit.edu 37 12 114386709 114386710 + Missense_Mutation DNP CC CC AA TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:114386709_114386710CC>AA uc009zwi.2 - 10 1348_1349 c.1204_1205GG>TT c.(1204-1206)GGA>TTA p.G402L RBM19_uc001tvn.3_Missense_Mutation_p.G402L|RBM19_uc001tvm.2_Missense_Mutation_p.G402L NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 402 RRM 3. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) AAAGAGCCTTCCGGATTCGGCC 0.584 NA 15 106 0 0 0.004672 0 0 ANAPC5 51433 broad.mit.edu 37 12 121766294 121766294 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:121766294C>G uc001uag.2 - 10 1251 c.1129G>C c.(1129-1131)GCC>CCC p.A377P ANAPC5_uc010szu.1_Missense_Mutation_p.A43P|ANAPC5_uc001uae.2_5'UTR|ANAPC5_uc010szv.1_5'UTR|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Intron|ANAPC5_uc001uai.1_Intron NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 377 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCAGGGAGGCGAGGTACTAA 0.478 NA 6 41 0 0 0.00308 0 0 KNTC1 9735 broad.mit.edu 37 12 123032049 123032049 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:123032049G>A uc001ucv.2 + 11 1067 c.904G>A c.(904-906)GAA>AAA p.E302K KNTC1_uc010taf.1_Missense_Mutation_p.E265K NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 302 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TCTTACTACAGAAGCAGACTC 0.428 NA 7 15 0 0 0.001984 0 0 DDX55 57696 broad.mit.edu 37 12 124097728 124097728 + Silent SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:124097728A>T uc001ufi.2 + 8 777 c.753A>T c.(751-753)GCA>GCT p.A251A DDX55_uc001ufh.2_Silent_p.A104A|DDX55_uc001ufj.1_Silent_p.A104A|DDX55_uc001ufk.2_Silent_p.A104A NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 251 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) TATGCAAGGCAGATGAGAAAT 0.378 NA 9 64 0 0 0.004482 0 0 RIMBP2 23504 broad.mit.edu 37 12 130912804 130912804 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:130912804C>T uc001uil.2 - 12 2445 c.2281G>A c.(2281-2283)GAG>AAG p.E761K NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 761 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGCTCCTCCTCGTCCTCCTCC 0.617 NA 13 73 0 0 0.00245 0 0 PUS1 80324 broad.mit.edu 37 12 132416843 132416843 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:132416843G>T uc001ujf.2 + 3 906 c.427G>T c.(427-429)GCC>TCC p.A143S PUS1_uc001ujg.2_Missense_Mutation_p.A115S|PUS1_uc001ujh.2_Missense_Mutation_p.A115S|PUS1_uc001uji.2_Missense_Mutation_p.A90S NM_025215 NP_079491 Q9Y606 TRUA_HUMAN pseudouridine synthase 1 isoform 1 143 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) CCAGCGCTGCGCCCGGACAGA 0.562 Esophageal Squamous(102;671 2009 17384 45666) NA 12 24 2.27111e-07 2.73365e-07 0.001368 1 0 SLC7A1 6541 broad.mit.edu 37 13 30091719 30091719 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr13:30091719T>A uc001uso.2 - 10 1888 c.1501A>T c.(1501-1503)AGC>TGC p.S501C NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 501 Helical; (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCTATGAGGCTGGTTGAAATG 0.488 NA 34 108 0 0 0.004289 0 0 LRCH1 23143 broad.mit.edu 37 13 47315804 47315804 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr13:47315804C>G uc001vbj.2 + 19 2244 c.2008C>G c.(2008-2010)CTG>GTG p.L670V LRCH1_uc001vbk.2_Missense_Mutation_p.L705V|LRCH1_uc001vbl.3_Intron NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 670 CH. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) GTGTGACATCCTGCAGTTGGA 0.517 NA 112 382 0 0 0.00361 0 0 CKAP2 26586 broad.mit.edu 37 13 53049190 53049190 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr13:53049190A>T uc001vgv.2 + 9 2163 c.1966A>T c.(1966-1968)ACG>TCG p.T656S CKAP2_uc001vgu.2_Missense_Mutation_p.T655S|CKAP2_uc010tha.1_Missense_Mutation_p.T607S NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 656 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) GGAACAGCTAACGGAGTTGGG 0.423 NA 40 98 0 0 0.00623 0 0 OLFM4 10562 broad.mit.edu 37 13 53617317 53617317 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr13:53617317C>A uc001vhl.2 + 4 648 c.648C>A c.(646-648)ATC>ATA p.I216I OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 216 Potential. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GCCGAGAAATCGTGGCTCTGA 0.443 NA 28 69 2.61193e-14 3.67347e-14 0.009535 1 0 SLC10A2 6555 broad.mit.edu 37 13 103718589 103718589 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr13:103718589G>T uc001vpy.3 - 1 608 c.11C>A c.(10-12)CCG>CAG p.P4Q NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 4 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) ACAGCTGTTCGGATCATTCAT 0.517 NA 11 34 1.5842e-08 1.96995e-08 0.001855 1 0 OR4K17 390436 broad.mit.edu 37 14 20585973 20585973 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:20585973C>G uc001vwo.1 + 1 408 c.408C>G c.(406-408)CAC>CAG p.H136Q NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TTCTCCTTCACTTACTGGGTG 0.433 NA 21 132 0 0 0.008871 0 0 OR4N5 390437 broad.mit.edu 37 14 20612644 20612644 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:20612644G>T uc010tla.1 + 1 750 c.750G>T c.(748-750)ATG>ATT p.M250I NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TATTTCTCATGTTTGGACCTG 0.438 NA 93 225 1.50986e-39 2.46642e-39 0.00361 1 0 OR10G3 26533 broad.mit.edu 37 14 22037988 22037988 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:22037988C>T uc010tmb.1 - 1 888 c.888G>A c.(886-888)GTG>GTA p.V296V NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) GGGCCAGCTTCACCTCTTGGT 0.522 NA 6 56 0 0 0.001168 0 0 CTAGE5 4253 broad.mit.edu 37 14 39815112 39815112 + Silent SNP A A G rs146750332 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:39815112A>G uc001wvg.3 + 21 2172 c.1836A>G c.(1834-1836)CAA>CAG p.Q612Q CTAGE5_uc010tqe.1_Silent_p.Q574Q|CTAGE5_uc001wuz.3_Silent_p.Q600Q|CTAGE5_uc001wuy.3_Silent_p.Q532Q|CTAGE5_uc001wvb.3_Silent_p.Q540Q|CTAGE5_uc001wvc.3_Silent_p.Q514Q|CTAGE5_uc001wva.3_Silent_p.Q583Q|CTAGE5_uc001wvh.3_Silent_p.Q569Q|CTAGE5_uc001wvf.3_Silent_p.Q537Q|CTAGE5_uc001wvi.3_Silent_p.Q617Q|CTAGE5_uc010amz.2_Silent_p.Q228Q|CTAGE5_uc001wvj.3_Silent_p.Q583Q NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 612 Pro-rich. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) TTCTAGGACAATCATATCCTG 0.328 NA 6 44 0 0 0.001168 0 0 FRMD6 122786 broad.mit.edu 37 14 52186968 52186968 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:52186968G>T uc001wzd.2 + 11 1505 c.1220G>T c.(1219-1221)GGG>GTG p.G407V FRMD6_uc001wzb.2_Missense_Mutation_p.G399V|FRMD6_uc001wzc.2_Missense_Mutation_p.G399V|FRMD6_uc001wze.2_Missense_Mutation_p.G330V|FRMD6_uc001wzf.2_Missense_Mutation_p.G100V|FRMD6_uc001wzg.2_Missense_Mutation_p.G49V NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 407 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) CGGGACACGGGGCCAGAAGAC 0.612 NA 17 75 6.94344e-10 8.97359e-10 0.006122 1 0 C14orf37 145407 broad.mit.edu 37 14 58471883 58471883 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:58471883C>A uc001xdc.2 - 7 2250 c.2139G>T c.(2137-2139)GGG>GGT p.G713G C14orf37_uc010tro.1_Silent_p.G751G|C14orf37_uc001xdd.2_Silent_p.G713G NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 713 Extracellular (Potential). integral to membrane binding 0 GCACCAGCATCCCAGACATGT 0.517 NA 12 76 2.61681e-11 3.5024e-11 0.00245 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634104 70634104 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:70634104G>T uc001xly.2 - 2 1790 c.1036C>A c.(1036-1038)CAC>AAC p.H346N SLC8A3_uc001xlw.2_Missense_Mutation_p.H346N|SLC8A3_uc001xlx.2_Missense_Mutation_p.H346N|SLC8A3_uc001xlz.2_Missense_Mutation_p.H346N|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 346 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TTCTGTTGGTGGGAAAGAGCA 0.488 NA 19 74 6.49762e-13 8.94698e-13 0.006122 1 0 MOAP1 64112 broad.mit.edu 37 14 93649946 93649946 + Silent SNP T T G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:93649946T>G uc001ybj.2 - 3 1012 c.642A>C c.(640-642)GCA>GCC p.A214A C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank NM_022151 NP_071434 Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 214 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity skin(2)|ovary(1) 3 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) taacatcaagtgctgggcctc 0 NA 19 125 0 0 0.008871 0 0 SERPINA3 12 broad.mit.edu 37 14 95081052 95081052 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:95081052C>T uc001ydp.2 + 2 353 c.274C>T c.(274-276)CAT>TAT p.H92Y SERPINA3_uc001ydo.3_Missense_Mutation_p.H117Y|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.H92Y|SERPINA3_uc001yds.2_Missense_Mutation_p.H92Y|SERPINA3_uc010avg.2_Missense_Mutation_p.H92Y NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 92 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) TCTGGGGGCCCATAATACCAC 0.542 NA 18 102 0 0 0.007413 0 0 C14orf177 283598 broad.mit.edu 37 14 99182651 99182651 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:99182651C>G uc001yfz.1 + 3 542 c.123C>G c.(121-123)TGC>TGG p.C41W NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 41 0 Melanoma(154;0.128) AAGGGAAATGCCCAAGTTCTC 0.542 NA 5 38 0 0 0.001168 0 0 DLK1 8788 broad.mit.edu 37 14 101200875 101200875 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:101200875C>T uc001yhs.3 + 5 947 c.794C>T c.(793-795)GCC>GTC p.A265V DLK1_uc001yhu.3_Intron NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 265 Extracellular (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) TATGGGCTGGCCTACCGCCTG 0.637 NA 19 47 0 0 0.006122 0 0 RAGE 5891 broad.mit.edu 37 14 102717268 102717268 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:102717268C>A uc001ylm.2 - 7 697 c.471G>T c.(469-471)CCG>CCT p.P157P RAGE_uc010txv.1_Silent_p.P127P|RAGE_uc001yln.2_5'UTR NM_014226 NP_055041 Q9UQ07 MOK_HUMAN MAPK/MAK/MRK overlapping kinase 157 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 ATTCCGTGTACGGCTGCTTGG 0.552 NA 19 124 2.89027e-11 3.83909e-11 0.002299 1 0 AHNAK2 113146 broad.mit.edu 37 14 105412058 105412058 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:105412058G>C uc010axc.1 - 7 9850 c.9730C>G c.(9730-9732)CCC>GCC p.P3244A AHNAK2_uc001ypx.2_Missense_Mutation_p.P3144A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3244 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTATCTGGGGGCCCTTGCGA 0.612 NA 91 145 0 0 0.00361 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420887 105420887 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:105420887C>T uc010axc.1 - 7 1021 c.901G>A c.(901-903)GAG>AAG p.E301K AHNAK2_uc001ypx.2_Missense_Mutation_p.E201K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 301 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGCTGGGCCTCTGTGTCTGTG 0.632 NA 9 11 0 0 0.008291 0 0 PACS2 23241 broad.mit.edu 37 14 105814896 105814896 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:105814896G>T uc001yqt.2 + 2 361 c.186G>T c.(184-186)GTG>GTT p.V62V PACS2_uc001yqs.2_5'UTR|PACS2_uc001yqv.2_Silent_p.V62V|PACS2_uc001yqu.2_Silent_p.V62V NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 62 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) TGATCTCCGTGGTGATCGCTG 0.612 NA 23 74 2.89027e-11 3.83909e-11 0.002299 1 0 DISP2 85455 broad.mit.edu 37 15 40659393 40659393 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:40659393C>T uc001zlk.1 + 8 1169 c.1080C>T c.(1078-1080)GAC>GAT p.D360D NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 360 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCCAAGCTGACGCAGCCCGCA 0.642 NA 20 91 0 0 0.008871 0 0 LTK 4058 broad.mit.edu 37 15 41796779 41796779 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:41796779C>T uc001zoa.3 - 18 2358 c.2180G>A c.(2179-2181)CGC>CAC p.R727H LTK_uc001zob.3_Missense_Mutation_p.R666H|LTK_uc010ucx.1_Missense_Mutation_p.R597H|LTK_uc010bcg.2_Missense_Mutation_p.R425H NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 727 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CTGGTTGGTGCGCCCAGGATA 0.627 NA TSP Lung(18;0.14) 23 89 0 0 0.001882 0 0 UNC13C 440279 broad.mit.edu 37 15 54305743 54305743 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:54305743G>T uc002ack.2 + 1 643 c.643G>T c.(643-645)GAC>TAC p.D215Y NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 215 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TAAGTCTTTGGACAGAACTGT 0.423 NA 50 57 9.90819e-18 1.4397e-17 0.00361 1 0 CGNL1 84952 broad.mit.edu 37 15 57734609 57734609 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:57734609A>G uc002aeg.2 + 4 1812 c.1736A>G c.(1735-1737)AAC>AGC p.N579S CGNL1_uc010bfw.2_Missense_Mutation_p.N579S NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 579 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) AGGAAAGTCAACTTGGTCTTT 0.408 NA 16 47 0 0 0.004007 0 0 DENND4A 10260 broad.mit.edu 37 15 66034066 66034066 + Silent SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:66034066T>C uc002aph.2 - 5 996 c.618A>G c.(616-618)GTA>GTG p.V206V DENND4A_uc002api.2_Silent_p.V206V|DENND4A_uc002apj.3_Silent_p.V206V|DENND4A_uc010ujj.1_Silent_p.V206V NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 206 UDENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CTTTGTAAGATACAGTGTTCG 0.214 NA 8 43 0 0 0.00308 0 0 LARP6 55323 broad.mit.edu 37 15 71124472 71124472 + Silent SNP G G T rs150993636 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:71124472G>T uc002ass.2 - 3 1466 c.1395C>A c.(1393-1395)CCC>CCA p.P465P NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 465 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 GCACCCCTACGGGTAGCCCAT 0.577 NA 33 98 1.06647e-15 1.51612e-15 0.003755 1 0 TMC3 342125 broad.mit.edu 37 15 81624961 81624961 + Missense_Mutation SNP G G T rs115607037 by1000genomes TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:81624961G>T uc002bgo.1 - 22 3102 c.3102C>A c.(3100-3102)TTC>TTA p.F1034L TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 1034 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 GGGATGGCTCGAACCTGGGCT 0.607 NA 12 22 2.68362e-12 3.676e-12 0.001368 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84659957 84659957 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:84659957C>A uc002bjz.3 + 23 4188 c.3964C>A c.(3964-3966)CCT>ACT p.P1322T ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P1322T|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.P1322T NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1322 Ig-like C2-type 3. 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) AATCCGATGTCCTGTAAAAGG 0.502 NA 106 106 1.48543e-65 2.45703e-65 0.00361 1 0 NTRK3 4916 broad.mit.edu 37 15 88669511 88669511 + Nonsense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:88669511C>A uc002bme.1 - 12 1549 c.1387G>T c.(1387-1389)GGA>TGA p.G463* NTRK3_uc002bmh.2_Nonsense_Mutation_p.G455*|NTRK3_uc002bmf.1_Nonsense_Mutation_p.G463*|NTRK3_uc010upl.1_Nonsense_Mutation_p.G365*|NTRK3_uc010bnh.1_Nonsense_Mutation_p.G455*|NTRK3_uc002bmg.2_Nonsense_Mutation_p.G463* NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 463 Cytoplasmic (Potential). 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) CCCTTCATTCCAAATTTGGAC 0.443 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 11 31 5.50884e-06 6.35449e-06 0.001368 1 0 UNC45A 55898 broad.mit.edu 37 15 91490084 91490084 + Silent SNP G G T rs146865609 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr15:91490084G>T uc002bqg.2 + 10 1780 c.1440G>T c.(1438-1440)TCG>TCT p.S480S UNC45A_uc002bqd.2_Silent_p.S465S|UNC45A_uc010uqr.1_5'Flank|UNC45A_uc002bqi.2_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 480 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ATGGTGTCTCGCTGCTGAAGG 0.632 NA 62 43 3.07184e-27 4.80889e-27 0.00361 1 0 RGS11 8786 broad.mit.edu 37 16 321439 321439 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:321439C>A uc002cgj.1 - 11 711 c.708G>T c.(706-708)GCG>GCT p.A236A RGS11_uc002cgi.1_Silent_p.A215A|RGS11_uc010bqs.1_Silent_p.A225A|RGS11_uc002cgk.1_Silent_p.A52A NM_183337 NP_899180 O94810 RGS11_HUMAN regulator of G-protein signalling 11 isoform 1 236 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity lung(1)|pancreas(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TCCTGCCCAGCGCTTTCCTGA 0.647 NA 14 45 2.23348e-06 2.61069e-06 0.004007 1 0 RPL3L 6123 broad.mit.edu 37 16 1994846 1994846 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:1994846C>A uc002cnh.2 - 10 1263 c.1216G>T c.(1216-1218)GAC>TAC p.D406Y SEPX1_uc010uvs.1_5'Flank NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 406 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 GCCTACAAGTCTCCCGAGGTC 0.592 NA 46 150 3.19069e-20 4.75439e-20 0.00361 1 0 PPL 5493 broad.mit.edu 37 16 4941886 4941886 + Nonsense_Mutation SNP C C A rs139811413 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:4941886C>A uc002cyd.1 - 16 1984 c.1894G>T c.(1894-1896)GAG>TAG p.E632* NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 632 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 AGATGGTTCTCGTGTGTGGCC 0.622 NA 6 137 0.00198382 0.00211661 0.001984 1 0 A2BP1 54715 broad.mit.edu 37 16 7680687 7680687 + Splice_Site SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:7680687T>A uc002cys.2 + 11 1745 c.757_splice c.e11+2 p.M253_splice A2BP1_uc010buf.1_Splice_Site_p.M253_splice|A2BP1_uc002cyr.1_Splice_Site_p.M252_splice|A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Splice_Site_p.M296_splice|A2BP1_uc010uya.1_Splice_Site_p.M210_splice|A2BP1_uc002cyv.1_Splice_Site_p.M253_splice|A2BP1_uc010uyb.1_Splice_Site_p.M253_splice|A2BP1_uc002cyw.2_Splice_Site_p.M273_splice|A2BP1_uc002cyy.2_Splice_Site_p.M273_splice|A2BP1_uc002cyx.2_Splice_Site_p.M273_splice|A2BP1_uc010uyc.1_Intron NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) CTTCTGCAAGTAAGCCCACTG 0.517 NA 6 38 0 0 0.001168 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858403 9858403 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:9858403C>T uc002czo.3 - 13 3546 c.2998G>A c.(2998-3000)GTG>ATG p.V1000M GRIN2A_uc010uym.1_Missense_Mutation_p.V1000M|GRIN2A_uc010uyn.1_Missense_Mutation_p.V843M|GRIN2A_uc002czr.3_Missense_Mutation_p.V1000M NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1000 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTGTGCTCACGGCCACCTCC 0.512 NA 17 77 0 0 0.004007 0 0 PARN 5073 broad.mit.edu 37 16 14540779 14540779 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:14540779T>A uc010uzd.1 - 23 1972 c.1830A>T c.(1828-1830)AAA>AAT p.K610N PARN_uc010uzc.1_Missense_Mutation_p.K549N|PARN_uc010uze.1_Missense_Mutation_p.K564N|PARN_uc010uzf.1_Missense_Mutation_p.K435N NM_002582 NP_002573 O95453 PARN_HUMAN poly(A)-specific ribonuclease (deadenylation 610 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding ovary(2) 2 TTCTTTTTAATTTCTTGGCCT 0.488 NA 17 73 0 0 0.007413 0 0 XYLT1 64131 broad.mit.edu 37 16 17228333 17228333 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:17228333C>G uc002dfa.2 - 9 2109 c.2024G>C c.(2023-2025)TGC>TCC p.C675S NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 675 Lumenal (Potential). C->A: No effect. glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GGCTCACCGGCAGCTGTTCTC 0.607 NA 16 62 0 0 0.004007 0 0 SMG1 23049 broad.mit.edu 37 16 18847769 18847769 + Missense_Mutation SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:18847769T>C uc002dfm.2 - 47 8053 c.7690A>G c.(7690-7692)ATA>GTA p.I2564V SMG1_uc010bwb.2_Missense_Mutation_p.I2424V|SMG1_uc010bwa.2_Missense_Mutation_p.I1295V NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2564 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TAATGTGTTATCCATTGTTCA 0.428 NA 20 57 0 0 0.008871 0 0 GP2 2813 broad.mit.edu 37 16 20335184 20335184 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:20335184C>A uc002dgv.2 - 3 572 c.489G>T c.(487-489)GTG>GTT p.V163V GP2_uc002dgw.2_Silent_p.V163V|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 163 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 CCAACCGGTACACATGGTACC 0.572 NA 4 16 0.00909568 0.00956866 0.009096 1 0 DNAH3 55567 broad.mit.edu 37 16 20974768 20974768 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:20974768G>A uc010vbe.1 - 53 10438 c.10438C>T c.(10438-10440)CGG>TGG p.R3480W DNAH3_uc010vbd.1_Missense_Mutation_p.R915W NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3480 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TTGTCAGGCCGCAAACATCGA 0.522 NA 7 49 0 0 0.001984 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24931498 24931498 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:24931498G>C uc002dnb.2 - 20 2692 c.2599C>G c.(2599-2601)CGC>GGC p.R867G ARHGAP17_uc002dmx.2_3'UTR|ARHGAP17_uc002dmw.2_3'UTR|ARHGAP17_uc002dmy.2_Missense_Mutation_p.R312G|ARHGAP17_uc002dmz.2_Missense_Mutation_p.R391G|ARHGAP17_uc002dna.2_Missense_Mutation_p.R594G|ARHGAP17_uc002dnc.2_Missense_Mutation_p.R789G|ARHGAP17_uc010vcf.1_Missense_Mutation_p.R610G|ARHGAP17_uc002dnd.1_RNA|ARHGAP17_uc002dne.1_Silent_p.A124A NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 867 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) AGCAGGATGCGGCCAGGCACG 0.552 NA 26 70 0 0 0.004656 0 0 SMPD3 55512 broad.mit.edu 37 16 68404942 68404942 + Nonsense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:68404942G>C uc002ewa.2 - 3 1565 c.1143C>G c.(1141-1143)TAC>TAG p.Y381* SMPD3_uc010cfe.2_Nonsense_Mutation_p.Y381*|SMPD3_uc010vlh.1_Nonsense_Mutation_p.Y381* NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 381 Lumenal (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) TGTACTCGAAGTAGCCGTGCA 0.597 NA 8 42 0 0 0.00308 0 0 PHLPP2 23035 broad.mit.edu 37 16 71703215 71703215 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:71703215C>G uc002fax.2 - 10 1597 c.1591G>C c.(1591-1593)GAT>CAT p.D531H PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.D531H NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 531 LRR 13. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 TAGCTCACATCTAATACTTCT 0.378 NA 22 69 0 0 0.002299 0 0 WWOX 51741 broad.mit.edu 37 16 78198109 78198109 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:78198109C>T uc002ffk.2 + 5 564 c.439C>T c.(439-441)CAT>TAT p.H147Y WWOX_uc010vnk.1_Missense_Mutation_p.H34Y|WWOX_uc002ffl.2_Missense_Mutation_p.H147Y|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.H147Y NM_016373 NP_057457 Q9NZC7 WWOX_HUMAN WW domain-containing oxidoreductase isoform 1 147 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) TTTTGCCCTCCATGGTGCACA 0.443 NA 23 27 0 0 0.00278 0 0 ACSF3 197322 broad.mit.edu 37 16 89167225 89167225 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr16:89167225G>T uc002fmp.2 + 3 476 c.136G>T c.(136-138)GTG>TTG p.V46L ACSF3_uc010cig.1_Missense_Mutation_p.V46L|ACSF3_uc010cih.1_Intron|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'Flank NM_174917 NP_777577 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 precursor 46 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0281) GAGCGCCCCGGTGTTCACCCG 0.677 NA 25 21 4.47668e-21 6.72781e-21 0.003954 1 0 OR1A2 26189 broad.mit.edu 37 17 3101695 3101695 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:3101695A>T uc002fvd.1 + 1 883 c.883A>T c.(883-885)ATG>TTG p.M295L NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 AAATTGGGATATGAAGGCAGC 0.453 NA 67 70 0 0 0.00361 0 0 TP53 7157 broad.mit.edu 37 17 7576897 7576897 + Nonsense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:7576897G>A uc002gim.2 - 9 1143 c.949C>T c.(949-951)CAG>TAG p.Q317* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q317*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q185*|TP53_uc010cng.1_Nonsense_Mutation_p.Q185*|TP53_uc002gii.1_Nonsense_Mutation_p.Q185*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q317*|TP53_uc010cni.1_Nonsense_Mutation_p.Q317*|TP53_uc002gij.2_Nonsense_Mutation_p.Q317* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 317 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(19)|p.0?(7)|p.Q317K(3)|p.Q317R(2)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.Q317fs*28(1)|p.Q317fs*45(1)|p.Q317fs*19(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) TTCTTTGGCTGGGGAGAGGAG 0.473 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) 30 40 0 0 0.002096 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8219340 8219340 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:8219340C>T uc002glc.2 + 9 1699 c.1578C>T c.(1576-1578)GAC>GAT p.D526D ARHGEF15_uc002gld.2_Silent_p.D526D|ARHGEF15_uc010vuw.1_Silent_p.D415D NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 526 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 TCTGCAGGGACACCAACGTGC 0.687 NA 8 19 0 0 0.00308 0 0 MYH2 4620 broad.mit.edu 37 17 10441133 10441133 + Missense_Mutation SNP A A C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:10441133A>C uc010coi.2 - 15 1564 c.1436T>G c.(1435-1437)CTG>CGG p.L479R uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L479R|MYH2_uc010coj.2_Missense_Mutation_p.L479R NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 479 Myosin head-like. 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 GTTGATGCACAGCTGCTCCAG 0.378 NA 7 142 0 0 0.006214 0 0 COX10 1352 broad.mit.edu 37 17 14005480 14005480 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:14005480G>T uc002gof.3 + 4 749 c.545G>T c.(544-546)GGC>GTC p.G182V COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_Intron NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 182 Helical; (Potential). heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TTGGCTCCGGGCCCTTTTGAC 0.502 NA 7 119 8.12818e-05 9.03895e-05 0.001984 1 0 MAP2K3 5606 broad.mit.edu 37 17 21201776 21201777 + Missense_Mutation DNP CC CC GG rs145057136 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:21201776_21201777CC>GG uc002gys.2 + 2 366_367 c.101_102CC>GG c.(100-102)CCC>CGG p.P34R MAP2K3_uc002gyt.2_Missense_Mutation_p.P5R|MAP2K3_uc002gyu.2_Missense_Mutation_p.P5R NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 34 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TCCAAGCCACCCGCACCCAACC 0.564 NA 24 146 0 0 0.004672 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26667374 26667374 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:26667374C>A uc002hax.1 + 3 264 c.245C>A c.(244-246)ACC>AAC p.T82N TNFAIP1_uc002hay.2_Missense_Mutation_p.T82N|TNFAIP1_uc010waf.1_5'UTR NM_021137 NP_066960 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 82 BTB. apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CACTTTGGCACCATTTTGAAT 0.522 NA 34 103 2.09667e-21 3.17823e-21 0.003755 1 0 NEK8 284086 broad.mit.edu 37 17 27061972 27061972 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:27061972G>A uc002hcp.2 + 3 436 c.436G>A c.(436-438)GGT>AGT p.G146S NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 146 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) CGTCAAGATCGGTGATTTCGG 0.562 NSCLC(6;19 293 14866 25253 49845) NA 19 146 0 0 0.007413 0 0 EVI2B 2124 broad.mit.edu 37 17 29631427 29631427 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:29631427G>A uc002hgk.2 - 2 1356 c.1201C>T c.(1201-1203)CTT>TTT p.L401F NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.L416F NM_006495 NP_006486 P34910 EVI2B_HUMAN ecotropic viral integration site 2B precursor 401 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane ovary(2) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) GGCAAGTTAAGTGAGTCAAGC 0.418 NA 40 88 0 0 0.005524 0 0 CCL18 6362 broad.mit.edu 37 17 34391718 34391718 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:34391718G>T uc002hku.2 + 1 76 c.16G>T c.(16-18)GCT>TCT p.A6S NM_002988 NP_002979 P55774 CCL18_HUMAN small inducible cytokine A18 precursor 6 cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction extracellular space chemokine activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGGCCTTGCAGCTGCCCTCCT 0.582 NA 43 142 4.44401e-20 6.60325e-20 0.002522 1 0 CRHR1 1394 broad.mit.edu 37 17 43912021 43912021 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:43912021G>T uc010dap.2 + 14 1491 c.1226G>T c.(1225-1227)CGG>CTG p.R409L CRHR1_uc010wjx.1_Missense_Mutation_p.R205L|CRHR1_uc002ijp.2_Missense_Mutation_p.G234C|CRHR1_uc002ijm.2_Missense_Mutation_p.R380L|CRHR1_uc002ijn.2_Missense_Mutation_p.R340L|CRHR1_uc010dar.2_Missense_Mutation_p.R366L|CRHR1_uc010dao.2_Missense_Mutation_p.R279L|CRHR1_uc010daq.2_Missense_Mutation_p.R205L NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 409 Cytoplasmic (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) AGGTGGCACCGGTGGCAGGAC 0.657 Ovarian(110;57 1568 10207 38216 49865) NA 17 44 2.35188e-11 3.16391e-11 0.006122 1 0 ITGB3 3690 broad.mit.edu 37 17 45361945 45361945 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:45361945C>T uc002ilj.2 + 4 518 c.498C>T c.(496-498)ACC>ACT p.T166T ITGB3_uc002ili.1_Silent_p.T166T|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 166 VWFA.|Extracellular (Potential). T -> I (associated with neonatal thrombocytopenia; alloantigen Duv(a+); does not affect significantly the integrin function). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) AGCTGGCCACCCAGATGCGAA 0.532 NA 57 121 0 0 0.00361 0 0 HOXB7 3217 broad.mit.edu 37 17 46685327 46685327 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:46685327C>A uc002inv.2 - 2 634 c.531G>T c.(529-531)ACG>ACT p.T177T HOXB6_uc002ins.1_5'Flank|HOXB6_uc010dbh.1_5'Flank NM_004502 NP_004493 P09629 HXB7_HUMAN homeobox B7 177 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCTGTCTTTCCGTGAGGCAGA 0.587 NA 43 228 2.24722e-20 3.35806e-20 0.00361 1 0 IGF2BP1 10642 broad.mit.edu 37 17 47120823 47120823 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:47120823G>T uc002iom.2 + 10 1445 c.1111G>T c.(1111-1113)GCT>TCT p.A371S IGF2BP1_uc010dbj.2_Missense_Mutation_p.A232S NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 371 Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 CCTGAACCTGGCTGCTGTAGG 0.597 Esophageal Squamous(198;1041 2123 8248 37119 38268) NA 34 71 1.836e-18 2.69007e-18 0.003755 1 0 NGFR 4804 broad.mit.edu 37 17 47590270 47590270 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:47590270A>T uc002ioz.3 + 6 1308 c.1183A>T c.(1183-1185)AGC>TGC p.S395C NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 395 Cytoplasmic (Potential).|Death. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CACCCAGGACAGCGCCACACT 0.687 NA 3 28 0 0 0.004672 0 0 PPM1E 22843 broad.mit.edu 37 17 57057803 57057803 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:57057803A>G uc002iwx.2 + 7 1806 c.1679A>G c.(1678-1680)CAA>CGA p.Q560R PPM1E_uc010ddd.2_Missense_Mutation_p.Q323R NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 569 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) CCAGGGTCCCAAATCAACGTG 0.527 NA 39 66 0 0 0.005524 0 0 SMARCD2 6603 broad.mit.edu 37 17 61911557 61911557 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:61911557C>G uc010deb.1 - 8 1370 c.1053G>C c.(1051-1053)GAG>GAC p.E351D SMARCD2_uc010wpt.1_Missense_Mutation_p.E303D|SMARCD2_uc010dea.1_Missense_Mutation_p.E276D|SMARCD2_uc010dec.1_Missense_Mutation_p.E330D NM_001098426 NP_001091896 Q92925 SMRD2_HUMAN SWI/SNF-related matrix-associated 351 SWIB. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity 0 AGTTGATGTACTCCCGCTCGT 0.602 NA OREG0024642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 0 0 0.009096 0 0 SCN4A 6329 broad.mit.edu 37 17 62022372 62022372 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:62022372G>C uc002jds.1 - 20 3846 c.3769C>G c.(3769-3771)CGG>GGG p.R1257G NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1257 III. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CTCACCTCCCGGGAGTCCACG 0.617 NA 6 36 0 0 0.001168 0 0 MAP2K6 5608 broad.mit.edu 37 17 67532289 67532289 + Nonsense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:67532289C>A uc002jij.2 + 11 1203 c.915C>A c.(913-915)TAC>TAA p.Y305* NM_002758 NP_002749 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 305 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|pancreas(1) 5 Breast(10;6.05e-10) GGCCTACATACCCAGAGCTAA 0.318 NA 15 150 1.15088e-07 1.39164e-07 0.004007 1 0 ASPSCR1 79058 broad.mit.edu 37 17 79954652 79954652 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:79954652G>T uc002kcx.2 + 7 960 c.863G>T c.(862-864)GGC>GTC p.G288V ASPSCR1_uc002kcw.1_Missense_Mutation_p.G288V|ASPSCR1_uc002kcy.2_Missense_Mutation_p.G288V|ASPSCR1_uc002kcz.2_Missense_Mutation_p.G182V|ASPSCR1_uc002kda.2_Missense_Mutation_p.G211V|ASPSCR1_uc002kdb.1_Missense_Mutation_p.G211V NM_024083 NP_076988 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, 288 protein binding ASPSCR1/TFE3(161) soft_tissue(118)|kidney(43)|breast(1) 162 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TCCAAGTCGGGCCAGGATCCC 0.428 NA T TFE3 alveolar soft part sarcoma 10 156 0.00829132 0.00873995 0.008291 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14851707 14851707 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr18:14851707C>T uc010dlo.2 + 36 3587 c.3407C>T c.(3406-3408)ACA>ATA p.T1136I ANKRD30B_uc010xal.1_Missense_Mutation_p.T278I NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1221 Potential. ovary(1)|skin(1) 2 AAACAGAAAACAGTAACAAAA 0.358 NA 9 53 0 0 0.006214 0 0 DSC2 1824 broad.mit.edu 37 18 28666625 28666625 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr18:28666625C>A uc002kwl.3 - 7 1310 c.856G>T c.(856-858)GGG>TGG p.G286W DSC2_uc002kwk.3_Missense_Mutation_p.G286W NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 286 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GGCACCTGCCCAATGATGGAG 0.473 NA 38 68 1.04594e-18 1.53677e-18 0.00623 1 0 STARD6 147323 broad.mit.edu 37 18 51858176 51858176 + Silent SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr18:51858176G>C uc010xdt.1 - 4 321 c.321C>G c.(319-321)TCC>TCG p.S107S NM_139171 NP_631910 P59095 STAR6_HUMAN START domain containing protein 6 107 START. lipid transport lipid binding ovary(1) 1 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) AGTCTCGAGGGGAAATGGAGC 0.368 NA 19 31 0 0 0.008871 0 0 SERPINB11 89778 broad.mit.edu 37 18 61379925 61379925 + Nonsense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr18:61379925C>T uc002ljk.3 + 5 417 c.355C>T c.(355-357)CAG>TAG p.Q119* SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_Nonsense_Mutation_p.Q5*|SERPINB11_uc002ljj.3_Nonsense_Mutation_p.Q5*|SERPINB11_uc010dqe.2_Nonsense_Mutation_p.Q5*|SERPINB11_uc010dqf.2_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 119 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) GGCATTTCATCAGGTAAGTCC 0.433 Ovarian(27;496 784 5942 8975 23930) NA 6 63 0 0 0.001168 0 0 AMH 268 broad.mit.edu 37 19 2251711 2251711 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:2251711C>T uc002lvh.2 + 5 1657 c.1438C>T c.(1438-1440)CCC>TCC p.P480S NM_000479 NP_000470 P03971 MIS_HUMAN anti-Mullerian hormone precursor 480 cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination extracellular space growth factor activity|hormone activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGTACTCATCCCCGAGACCTA 0.716 NA Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 6 27 0 0 0.006214 0 0 C19orf29 58509 broad.mit.edu 37 19 3623819 3623819 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:3623819C>A uc002lyh.2 - 2 562 c.509G>T c.(508-510)CGG>CTG p.R170L C19orf29_uc010dtn.2_5'Flank|C19orf29_uc002lyi.3_Missense_Mutation_p.R170L|C19orf29_uc010dto.2_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 170 Potential. catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTTGGCCAGCCGCCGTGCGCG 0.657 NA 8 25 0.000157383 0.000174281 0.00308 1 0 MATK 4145 broad.mit.edu 37 19 3779703 3779703 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:3779703C>A uc002lyt.2 - 9 1235 c.835G>T c.(835-837)GTC>TTC p.V279F MATK_uc002lyv.2_Missense_Mutation_p.V280F|MATK_uc002lyu.2_Missense_Mutation_p.V238F|MATK_uc010dtq.2_Missense_Mutation_p.V279F NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 279 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CACGTCATGACGGCCGTCTCG 0.667 NA 14 41 3.27435e-08 4.03351e-08 0.00245 1 0 ZNF560 147741 broad.mit.edu 37 19 9578992 9578992 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:9578992C>T uc002mlp.1 - 10 841 c.631G>A c.(631-633)GAG>AAG p.E211K ZNF560_uc010dwr.1_Missense_Mutation_p.E105K NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TAGAGTTCCTCTCCATTTTGG 0.363 NA 15 48 0 0 0.003163 0 0 OR7A17 26333 broad.mit.edu 37 19 14991763 14991763 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:14991763G>A uc010xob.1 - 1 405 c.405C>T c.(403-405)ATC>ATT p.I135I NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) GAGGGTTCATGATGACTGTGT 0.488 NA 39 43 0 0 0.004878 0 0 ZNF536 9745 broad.mit.edu 37 19 31025799 31025799 + Missense_Mutation SNP C C G rs144474545 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:31025799C>G uc002nsu.1 + 3 2354 c.2216C>G c.(2215-2217)GCG>GGG p.A739G ZNF536_uc010edd.1_Missense_Mutation_p.A739G NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 739 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.A739A(1) ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CAGCAACCAGCGCTGCTTCGC 0.567 NA 26 168 0 0 0.00333 0 0 ZNF536 9745 broad.mit.edu 37 19 31040344 31040344 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:31040344C>T uc002nsu.1 + 4 3956 c.3818C>T c.(3817-3819)TCT>TTT p.S1273F ZNF536_uc010edd.1_Missense_Mutation_p.S1273F NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1273 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) GCCTACAGTTCTGATGGCTTA 0.557 NA 11 50 0 0 0.001855 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767742 31767742 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:31767742C>G uc002nsy.3 - 2 3022 c.2957G>C c.(2956-2958)AGG>ACG p.R986T NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 986 C2H2-type 4. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GGAAGGAGTCCTGATTTGGGA 0.483 NA 17 67 0 0 0.008871 0 0 ZNF567 163081 broad.mit.edu 37 19 37210634 37210634 + Silent SNP G G T rs117657033 by1000genomes TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:37210634G>T uc010xtl.1 + 6 1230 c.1008G>T c.(1006-1008)TCG>TCT p.S336S ZNF567_uc002oeo.1_Silent_p.S336S|ZNF567_uc010xtk.1_Silent_p.S336S|ZNF567_uc002oep.3_Silent_p.S305S|ZNF567_uc002oeq.1_Silent_p.S305S NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 336 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) GGGAGAAATCGTATGAATGTC 0.453 NA 8 63 0.000274275 0.000299935 0.004482 1 0 FCGBP 8857 broad.mit.edu 37 19 40433095 40433095 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:40433095A>T uc002omp.3 - 2 1182 c.1174T>A c.(1174-1176)TCG>ACG p.S392T NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 392 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCAGCATACGAGAACTCACTG 0.612 NA 5 47 0 0 0.000602 0 0 CYP2A13 1553 broad.mit.edu 37 19 41599626 41599626 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:41599626C>A uc002opt.2 + 6 932 c.923C>A c.(922-924)ACC>AAC p.T308N NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 308 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) ACCGTGAGCACCACCCTGCGC 0.562 NA 12 78 7.03913e-09 8.83671e-09 0.001368 1 0 ATP1A3 478 broad.mit.edu 37 19 42492646 42492646 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:42492646G>T uc002osg.2 - 2 229 c.75C>A c.(73-75)CTC>CTA p.L25L ATP1A3_uc010xwf.1_Silent_p.L36L|ATP1A3_uc010xwg.1_5'UTR|ATP1A3_uc010xwh.1_Silent_p.L38L|ATP1A3_uc002osh.2_Silent_p.L25L NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 25 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 CCTCCTTCTTGAGGTCATCCA 0.597 NA 11 265 1.58986e-06 1.87085e-06 0.008291 1 0 PSG1 5669 broad.mit.edu 37 19 43373130 43373130 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:43373130C>T uc002ovb.2 - 4 904 c.766G>A c.(766-768)GAT>AAT p.D256N PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.D256N|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.D256N|PSG1_uc010eio.1_Missense_Mutation_p.D256N|PSG1_uc002oux.1_Missense_Mutation_p.D185N|PSG1_uc002ouy.1_Intron|PSG1_uc002ouz.1_Missense_Mutation_p.D256N|PSG1_uc002ova.1_Missense_Mutation_p.D163N|PSG1_uc002ovc.2_Missense_Mutation_p.D163N|PSG1_uc002ovd.1_Missense_Mutation_p.D256N NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 256 Ig-like C2-type 2. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) TTTAAGACATCCTTATTCTCC 0.493 NA 12 258 0 0 0.001368 0 0 ZFP112 7771 broad.mit.edu 37 19 44833222 44833222 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:44833222C>A uc010ejj.2 - 5 1219 c.1106G>T c.(1105-1107)AGT>ATT p.S369I ZFP112_uc002ozc.3_Missense_Mutation_p.S363I|ZFP112_uc010xwy.1_Missense_Mutation_p.S386I|ZFP112_uc010xwz.1_Missense_Mutation_p.S368I NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 TAAGCTATGACTGAAGGCTTT 0.378 Melanoma(53;975 1202 7512 15993 27273) NA 4 71 0.00024832 0.000272685 0.009096 1 0 TPRX1 284355 broad.mit.edu 37 19 48305244 48305244 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:48305244C>A uc002php.1 - 2 1095 c.1024G>T c.(1024-1026)GAC>TAC p.D342Y NM_198479 NP_940881 Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 342 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) GGCAAGAAGTCGGAGGCATCG 0.363 Esophageal Squamous(123;175 2281 3051 32395) NA 11 55 0.000673444 0.000728872 0.008291 1 0 GPR32 2854 broad.mit.edu 37 19 51274268 51274268 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:51274268G>T uc010ycf.1 + 1 411 c.411G>T c.(409-411)GTG>GTT p.V137V NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 137 Helical; Name=3; (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) TCATCTCTGTGGACCGTTGCA 0.612 Esophageal Squamous(113;152 1581 5732 15840 44398) NA 15 141 1.33834e-09 1.71281e-09 0.007413 1 0 KIR3DL3 115653 broad.mit.edu 37 19 55246763 55246763 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:55246763C>A uc002qgu.1 + 6 1011 c.993C>A c.(991-993)GTC>GTA p.V331V KIR2DL3_uc002qgv.2_Intron NM_153443 NP_703144 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three 331 Helical; (Potential). integral to membrane|plasma membrane receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) CCTCAGTGGTCATCATCCCCT 0.478 NA 55 95 3.84483e-29 6.05504e-29 0.00361 1 0 KIR3DP1 768329 broad.mit.edu 37 19 55266475 55266475 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:55266475A>T uc010yfi.1 + 1 2 c.1A>T c.(1-3)ATG>TTG p.M1L KIR2DS4_uc010yfj.1_5'UTR|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron NM_001015070 NP_001015070 killer-cell Ig-like receptor 0 GBM - Glioblastoma multiforme(193;0.0192) CGGCAGCACCATGTCGCTCAC 0.597 NA 22 63 0 0 0.002299 0 0 NLRP2 55655 broad.mit.edu 37 19 55494735 55494735 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:55494735T>A uc002qij.2 + 6 1755 c.1669T>A c.(1669-1671)TCC>ACC p.S557T NLRP2_uc010yfp.1_Missense_Mutation_p.S534T|NLRP2_uc010esn.2_Missense_Mutation_p.S533T|NLRP2_uc010eso.2_Missense_Mutation_p.S554T|NLRP2_uc010esp.2_Missense_Mutation_p.S535T NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 557 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGGCTACTACTCCTTTGGCCT 0.557 NA 13 66 0 0 0.001368 0 0 NLRP11 204801 broad.mit.edu 37 19 56321418 56321418 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:56321418G>A uc010ygf.1 - 5 1269 c.558C>T c.(556-558)CTC>CTT p.L186L NLRP11_uc002qlz.2_Silent_p.L87L|NLRP11_uc002qmb.2_Silent_p.L87L|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 186 NACHT. 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) CGTGAGCAGTGAGGTGAACGA 0.502 NA 7 31 0 0 0.001984 0 0 NLRP4 147945 broad.mit.edu 37 19 56388492 56388492 + Missense_Mutation SNP C C T rs147716168 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:56388492C>T uc002qmd.3 + 8 3078 c.2656C>T c.(2656-2658)CGG>TGG p.R886W NLRP4_uc002qmf.2_Missense_Mutation_p.R811W|NLRP4_uc010etf.2_Missense_Mutation_p.R661W NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 886 LRR 6. ATP binding p.R886W(1) ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCTGTTGTGTCGGGCTCTGAC 0.498 NA 26 100 0 0 0.007291 0 0 SNTG2 54221 broad.mit.edu 37 2 1168816 1168816 + Missense_Mutation SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:1168816T>C uc002qwq.2 + 8 666 c.538T>C c.(538-540)TCC>CCC p.S180P SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 180 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CAGTGGGGCCTCCTCTCCCCT 0.473 NA 26 198 0 0 0.002096 0 0 MYT1L 23040 broad.mit.edu 37 2 1890352 1890352 + Missense_Mutation SNP T T G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:1890352T>G uc002qxe.2 - 18 3497 c.2670A>C c.(2668-2670)AAA>AAC p.K890N MYT1L_uc002qxd.2_Missense_Mutation_p.K888N|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 890 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) TTCGAATGCTTTTGTCCGCCA 0.458 NA 10 64 0 0 0.008291 0 0 KCNS3 3790 broad.mit.edu 37 2 18112790 18112790 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:18112790G>T uc002rcv.2 + 3 966 c.515G>T c.(514-516)TGG>TTG p.W172L KCNS3_uc002rcw.2_Missense_Mutation_p.W172L NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 172 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AAGAAAATCTGGATTAGAATG 0.512 NA 14 56 1.5842e-08 1.96995e-08 0.001855 1 0 AGBL5 60509 broad.mit.edu 37 2 27278943 27278943 + Silent SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:27278943T>C uc002rie.2 + 7 1519 c.1302T>C c.(1300-1302)CAT>CAC p.H434H AGBL5_uc002ric.2_Silent_p.H434H|AGBL5_uc002rid.2_Silent_p.H434H|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 434 Zinc (By similarity). protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGACCTGCATGGACATGCTT 0.512 NA 55 258 0 0 0.00361 0 0 TCF23 150921 broad.mit.edu 37 2 27375636 27375636 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:27375636C>A uc010ylg.1 + 3 546 c.546C>A c.(544-546)AGC>AGA p.S182R NM_175769 NP_786951 Q7RTU1 TCF23_HUMAN transcription factor 23 182 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCACCCCCAGCCAAAGAACAA 0.557 NA 34 75 5.09552e-08 6.24765e-08 0.002096 1 0 SUPT7L 9913 broad.mit.edu 37 2 27880518 27880518 + Silent SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:27880518C>G uc002rlh.1 - 4 781 c.438G>C c.(436-438)GTG>GTC p.V146V SUPT7L_uc002rli.1_Silent_p.V146V|SUPT7L_uc010ymf.1_Silent_p.V11V|SUPT7L_uc002rlj.1_Silent_p.V144V|SUPT7L_uc010ezh.1_Silent_p.V144V NM_014860 NP_055675 O94864 ST65G_HUMAN SPTF-associated factor 65 gamma 146 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity skin(2) 2 Acute lymphoblastic leukemia(172;0.155) TGAGTTCAGTCACAGGTTCCC 0.542 NA 5 54 0 0 0.001168 0 0 RASGRP3 25780 broad.mit.edu 37 2 33747028 33747028 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:33747028C>T uc002rox.2 + 8 1002 c.375C>T c.(373-375)TCC>TCT p.S125S RASGRP3_uc010ync.1_Silent_p.S125S|RASGRP3_uc002roy.2_Silent_p.S125S NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 125 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) ATAGTCCTTCCTATGACTGGA 0.443 NA 17 113 0 0 0.007413 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655749 40655749 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:40655749C>A uc002rrx.2 - 1 1696 c.1672G>T c.(1672-1674)GTG>TTG p.V558L SLC8A1_uc002rry.2_Missense_Mutation_p.V558L|SLC8A1_uc002rrz.2_Missense_Mutation_p.V558L|SLC8A1_uc002rsa.2_Missense_Mutation_p.V558L|SLC8A1_uc002rsd.3_Missense_Mutation_p.V558L|SLC8A1_uc002rsb.1_Missense_Mutation_p.V558L|SLC8A1_uc010fan.1_Missense_Mutation_p.V558L|SLC8A1_uc002rsc.1_Missense_Mutation_p.V558L NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 558 Calx-beta 2.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AATACTTTCACCTCCATGATG 0.458 NA 18 148 5.3912e-06 6.2462e-06 0.006122 1 0 NRXN1 9378 broad.mit.edu 37 2 50699530 50699530 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:50699530T>A uc010fbq.2 - 16 4747 c.3270A>T c.(3268-3270)CAA>CAT p.Q1090H NRXN1_uc002rxb.3_Missense_Mutation_p.Q722H|NRXN1_uc002rxe.3_Missense_Mutation_p.Q1050H|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 229 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCAGGCAGCCTTGAAAGCCTT 0.428 NA 8 37 0 0 0.004482 0 0 ALMS1 7840 broad.mit.edu 37 2 73677809 73677809 + Silent SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:73677809A>G uc002sje.1 + 10 4269 c.4158A>G c.(4156-4158)ACA>ACG p.T1386T ALMS1_uc002sjf.1_Silent_p.T1342T|ALMS1_uc002sjg.2_Silent_p.T772T|ALMS1_uc002sjh.1_Silent_p.T772T NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1384 18.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CACAACATACAGAGAAGCCGA 0.468 NA 48 123 0 0 0.00361 0 0 TET3 200424 broad.mit.edu 37 2 74274191 74274191 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:74274191C>G uc002skb.3 + 1 742 c.742C>G c.(742-744)CCC>GCC p.P248A TET3_uc010fez.1_Missense_Mutation_p.P248A NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 248 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GGCTTCTTGCCCCCTTCCTGA 0.592 NA 38 48 0 0 0.004878 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745595 77745595 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:77745595C>A uc002snr.2 - 3 1815 c.1400G>T c.(1399-1401)CGG>CTG p.R467L LRRTM4_uc002snq.2_Missense_Mutation_p.R467L|LRRTM4_uc002sns.2_Missense_Mutation_p.R467L|LRRTM4_uc002snt.2_Missense_Mutation_p.R468L NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 467 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GGCCTTTTTCCGCCGCCTCTT 0.463 NA 16 46 6.72482e-11 8.84314e-11 0.003163 1 0 REG3A 5068 broad.mit.edu 37 2 79385590 79385590 + Splice_Site SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:79385590C>T uc002sod.1 - 3 451 c.196_splice c.e3-1 p.L66_splice REG3A_uc002soe.1_Splice_Site_p.L66_splice|REG3A_uc002sof.1_Splice_Site_p.L66_splice NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GGCAGGCCAGCTTTGAGGGCA 0.567 NA 13 78 0 0 0.004007 0 0 LONRF2 164832 broad.mit.edu 37 2 100906881 100906881 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:100906881G>C uc002tal.3 - 10 2399 c.1759C>G c.(1759-1761)CTT>GTT p.L587V LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 587 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 TACTCTGAAAGCCTGAAAAGA 0.433 NA 40 83 0 0 0.006999 0 0 RGPD3 653489 broad.mit.edu 37 2 107040515 107040515 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:107040515G>C uc010ywi.1 - 20 3965 c.3908C>G c.(3907-3909)TCT>TGT p.S1303C NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1303 intracellular transport binding ovary(1) 1 AGGAGACTTAGATAGACTCAA 0.403 NA 71 127 0 0 0.00361 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459800 107459800 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:107459800C>T uc002tdq.2 - 2 753 c.634G>A c.(634-636)GTC>ATC p.V212I ST6GAL2_uc002tdr.2_Missense_Mutation_p.V212I|ST6GAL2_uc002tds.3_Missense_Mutation_p.V212I NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 212 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.V212G(1) pancreas(6)|ovary(4)|skin(1) 11 TTGGAAGAGACGTTCCCCTTC 0.637 NA 4 39 0 0 0.009096 0 0 SH3RF3 344558 broad.mit.edu 37 2 110065767 110065767 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:110065767C>T uc010ywt.1 + 8 1970 c.1970C>T c.(1969-1971)CCG>CTG p.P657L NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 657 zinc ion binding ovary(1) 1 CACCAGCCCCCGGTGCAGATG 0.677 NA 3 23 0 0 0.000602 0 0 SEPT10 151011 broad.mit.edu 37 2 110325451 110325451 + Nonsense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:110325451G>A uc002tew.2 - 6 1082 c.703C>T c.(703-705)CAG>TAG p.Q235* SEPT10_uc010ywu.1_Nonsense_Mutation_p.Q68*|SEPT10_uc002tex.2_Nonsense_Mutation_p.Q212*|SEPT10_uc002tey.2_Nonsense_Mutation_p.Q235*|SEPT10_uc010ywv.1_Nonsense_Mutation_p.Q101*|SEPT10_uc002tev.1_Nonsense_Mutation_p.Q42*|SEPT10_uc010fjo.2_RNA|SEPT10_uc002tez.1_Nonsense_Mutation_p.Q10* NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN septin 10 isoform 1 235 cell cycle|cell division septin complex GTP binding 0 TGGTATATCTGGACGCCATTG 0.393 NA 20 100 0 0 0.002299 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547612 125547612 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:125547612C>G uc002tno.2 + 18 3247 c.2883C>G c.(2881-2883)AGC>AGG p.S961R CNTNAP5_uc010flu.2_Missense_Mutation_p.S962R NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 961 EGF-like 2.|Extracellular (Potential). PGHCSS -> SIKKLK (in Ref. 4; BAB71205). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GCCACTGCAGCAGCTACGGCA 0.547 NA 18 31 0 0 0.010504 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135893295 135893295 + Silent SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:135893295A>T uc002tuj.2 + 17 1741 c.1716A>T c.(1714-1716)GGA>GGT p.G572G RAB3GAP1_uc010fnf.2_Silent_p.G572G|RAB3GAP1_uc010fng.2_Silent_p.G397G|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 572 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) GAGAGGTAGGAAAATCTTGGG 0.408 NA 17 30 0 0 0.00499 0 0 UBXN4 23190 broad.mit.edu 37 2 136536537 136536537 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:136536537G>T uc002tur.2 + 11 1384 c.1073G>T c.(1072-1074)GGT>GTT p.G358V UBXN4_uc002tus.2_Missense_Mutation_p.G124V|UBXN4_uc002tut.2_5'UTR NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 358 UBX.|Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 AACACTTACGGTAATTTTTCG 0.348 NA 17 94 5.26018e-13 7.28119e-13 0.001882 1 0 LRP1B 53353 broad.mit.edu 37 2 141242913 141242913 + Nonsense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:141242913C>A uc002tvj.1 - 59 10396 c.9424G>T c.(9424-9426)GGA>TGA p.G3142* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3142 Extracellular (Potential).|LDL-receptor class B 30. 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) TTTACAAACCCAGCTTGAGGA 0.333 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 20 47 1.28384e-07 1.54885e-07 0.001882 1 0 FMNL2 114793 broad.mit.edu 37 2 153473647 153473647 + Missense_Mutation SNP A A C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:153473647A>C uc002tye.2 + 13 1622 c.1255A>C c.(1255-1257)AAG>CAG p.K419Q FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 419 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 AGCCATGTCCAAGATTGTGGA 0.443 NA 12 74 0 0 0.001368 0 0 GALNT5 11227 broad.mit.edu 37 2 158115649 158115649 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:158115649G>T uc002tzg.2 + 1 1310 c.1055G>T c.(1054-1056)GGT>GTT p.G352V GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 352 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 AAAGTATTGGGTAAAAGCCAA 0.393 NA 26 111 4.47668e-21 6.72781e-21 0.003954 1 0 ITGB6 3694 broad.mit.edu 37 2 160964351 160964351 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:160964351G>A uc002ubh.2 - 14 2123 c.2107C>T c.(2107-2109)CCG>TCG p.P703S ITGB6_uc010fou.2_Missense_Mutation_p.P703S|ITGB6_uc010zcq.1_Missense_Mutation_p.P661S|ITGB6_uc010fov.1_Missense_Mutation_p.P703S NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 703 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 GGAGGCTTCGGACAATCTGCA 0.403 NA 6 53 0 0 0.001984 0 0 MYO3B 140469 broad.mit.edu 37 2 171262116 171262116 + Nonsense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:171262116C>A uc002ufy.2 + 21 2636 c.2493C>A c.(2491-2493)TGC>TGA p.C831* MYO3B_uc002ufv.2_Nonsense_Mutation_p.C818*|MYO3B_uc010fqb.1_Nonsense_Mutation_p.C818*|MYO3B_uc002ufz.2_Nonsense_Mutation_p.C831*|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 831 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 TGGAACTGTGCTTTGGCATTC 0.413 NA 21 88 7.87624e-14 1.10477e-13 0.00278 1 0 TTN 7273 broad.mit.edu 37 2 179428882 179428882 + Missense_Mutation SNP T T G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:179428882T>G uc010zfg.1 - 275 74497 c.74273A>C c.(74272-74274)AAA>ACA p.K24758T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K18453T|TTN_uc010zfi.1_Missense_Mutation_p.K18386T|TTN_uc010zfj.1_Missense_Mutation_p.K18261T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25685 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) AATAGTAGATTTAATTTCCAT 0.378 NA 30 203 0 0 0.002836 0 0 TTN 7273 broad.mit.edu 37 2 179547582 179547582 + Missense_Mutation SNP T T G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:179547582T>G uc010zfg.1 - 132 29428 c.29204A>C c.(29203-29205)GAA>GCA p.E9735A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6396A|TTN_uc010fre.1_Missense_Mutation_p.E582A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10662 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) TGAAACAGCTTCTTCTTCTAG 0.328 NA 13 29 0 0 0.001368 0 0 CCDC141 285025 broad.mit.edu 37 2 179701812 179701812 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:179701812G>T uc002unf.1 - 13 2466 c.2409C>A c.(2407-2409)ACC>ACA p.T803T CCDC141_uc002une.1_Silent_p.T253T NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 803 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AGCCCCTGCTGGTGCCTGATT 0.488 NA 19 29 2.4624e-09 3.11351e-09 0.008871 1 0 ZNF804A 91752 broad.mit.edu 37 2 185802849 185802849 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:185802849A>T uc002uph.2 + 4 3320 c.2726A>T c.(2725-2727)GAT>GTT p.D909V NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 909 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GAATTGTCAGATGTTTCCAAT 0.413 NA 16 88 0 0 0.004007 0 0 MYO1B 4430 broad.mit.edu 37 2 192250719 192250719 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:192250719A>G uc010fsg.2 + 16 1718 c.1463A>G c.(1462-1464)CAT>CGT p.H488R MYO1B_uc002usq.2_Missense_Mutation_p.H488R|MYO1B_uc002usr.2_Missense_Mutation_p.H488R|MYO1B_uc002ust.1_Missense_Mutation_p.H126R NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 488 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) ACCCACCAGCATTTTGAGAGC 0.522 NA 67 240 0 0 0.00361 0 0 PLCL1 5334 broad.mit.edu 37 2 198950576 198950576 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:198950576G>T uc010fsp.2 + 2 2626 c.2335G>T c.(2335-2337)GAT>TAT p.D779Y PLCL1_uc002uuv.3_Missense_Mutation_p.D700Y NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 779 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TCCTATTTTTGATGAAACTTT 0.388 NA 13 134 9.31168e-06 1.07176e-05 0.001855 1 0 ZDBF2 57683 broad.mit.edu 37 2 207171954 207171954 + Missense_Mutation SNP A A C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:207171954A>C uc002vbp.2 + 5 2952 c.2702A>C c.(2701-2703)CAG>CCG p.Q901P NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 901 nucleic acid binding|zinc ion binding ovary(3) 3 AAAGAAGAGCAGGTACACTTA 0.368 NA 9 38 0 0 0.004482 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174447 207174447 + Missense_Mutation SNP T T G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:207174447T>G uc002vbp.2 + 5 5445 c.5195T>G c.(5194-5196)CTA>CGA p.L1732R NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1732 nucleic acid binding|zinc ion binding ovary(3) 3 CGTTCGAAGCTAAAACATAGA 0.448 NA 13 48 0 0 0.001368 0 0 DES 1674 broad.mit.edu 37 2 220285636 220285636 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:220285636C>G uc002vll.2 + 5 1070 c.984C>G c.(982-984)ATC>ATG p.I328M NM_001927 NP_001918 P17661 DESM_HUMAN desmin 328 Rod.|Coil 2B. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) GACACCAGATCCAGTCCTACA 0.532 NA 10 30 0 0 0.006214 0 0 FARSB 10056 broad.mit.edu 37 2 223436741 223436741 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:223436741C>A uc002vne.1 - 17 1654 c.1619G>T c.(1618-1620)GGG>GTG p.G540V FARSB_uc010zlq.1_Missense_Mutation_p.G560V|FARSB_uc002vnf.1_Missense_Mutation_p.G441V NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 540 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding ovary(1) 1 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) GAAAGCAGGCCCTGAAAAAGA 0.423 NA 7 47 0.00198382 0.00211661 0.001984 1 0 KCNE4 23704 broad.mit.edu 37 2 223917638 223917638 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:223917638C>A uc002vnl.3 + 2 244 c.90C>A c.(88-90)AGC>AGA p.S30R NM_080671 NP_542402 Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related 30 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) GCGGCGGCAGCGGCAATGGCA 0.597 NA 57 69 7.47603e-22 1.13653e-21 0.00361 1 0 SLC16A14 151473 broad.mit.edu 37 2 230911413 230911413 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:230911413C>A uc002vqd.1 - 4 792 c.429G>T c.(427-429)CTG>CTT p.L143L FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Silent_p.L143L|SLC16A14_uc002vqf.2_Silent_p.L143L NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 143 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CCACCGCTGGCAGGTAGGCCA 0.602 NA 6 61 0.00116845 0.00125686 0.001168 1 0 UGT1A4 54657 broad.mit.edu 37 2 234627778 234627778 + Silent SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:234627778A>G uc002vux.2 + 1 341 c.312A>G c.(310-312)GAA>GAG p.E104E 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_Silent_p.E104E NM_007120 NP_009051 P22310 UD14_HUMAN UDP glycosyltransferase 1 family, polypeptide A4 104 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) TTGAAACAGAACATCTTCTGA 0.433 Melanoma(99;1011 1962 13201 26492) NA 137 95 0 0 0.00361 0 0 COL6A3 1293 broad.mit.edu 37 2 238245021 238245021 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:238245021C>T uc002vwl.2 - 40 9007 c.8722G>A c.(8722-8724)GCC>ACC p.A2908T COL6A3_uc002vwo.2_Missense_Mutation_p.A2702T|COL6A3_uc010znj.1_Missense_Mutation_p.A2301T|COL6A3_uc002vwj.2_Missense_Mutation_p.A289T NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2908 Nonhelical region.|Ala-rich. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTTGCAGCGGCTGGCTTCACA 0.577 NA 11 224 0 0 0.001855 0 0 OR6B3 150681 broad.mit.edu 37 2 240985297 240985297 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:240985297A>T uc010zoe.1 - 1 193 c.193T>A c.(193-195)TCC>ACC p.S65T PRR21_uc010zod.1_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) AAAGACATGGAGCTCAGAAAG 0.557 NA 20 95 0 0 0.010504 0 0 TTLL9 164395 broad.mit.edu 37 20 30525286 30525286 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr20:30525286C>A uc010gdx.1 + 13 1345 c.1092C>A c.(1090-1092)ACC>ACA p.T364T TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.T266T|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 364 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGGAAGACACCCTGCATGTTG 0.582 NA 9 35 1.12685e-05 1.29416e-05 0.004482 1 0 SNTA1 6640 broad.mit.edu 37 20 32026748 32026748 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr20:32026748C>G uc002wzd.1 - 2 667 c.395G>C c.(394-396)GGG>GCG p.G132A SNTA1_uc010zuf.1_Missense_Mutation_p.G132A NM_003098 NP_003089 Q13424 SNTA1_HUMAN acidic alpha 1 syntrophin 132 PH 1.|PDZ. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding skin(1) 1 GATGGCATCCCCCACAAAAAG 0.547 NA 16 162 0 0 0.002299 0 0 ZNF341 84905 broad.mit.edu 37 20 32354696 32354696 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr20:32354696C>A uc002wzy.2 + 9 1282 c.1262C>A c.(1261-1263)GCC>GAC p.A421D ZNF341_uc002wzx.2_Missense_Mutation_p.A414D|ZNF341_uc010geq.2_Missense_Mutation_p.A331D|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CAGCCCCAGGCCTTGTCCACA 0.622 NA 14 298 1.49906e-05 1.71042e-05 0.00245 1 0 TOP1 7150 broad.mit.edu 37 20 39726903 39726903 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr20:39726903G>C uc002xjl.2 + 11 1147 c.901G>C c.(901-903)GAT>CAT p.D301H NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 301 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) AAGCAAATGTGATTTTACCCA 0.368 NA T NUP98 AML* 36 72 0 0 0.003755 0 0 ACOT8 10005 broad.mit.edu 37 20 44470570 44470570 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr20:44470570C>T uc002xqa.1 - 6 948 c.867G>A c.(865-867)GGG>GGA p.G289G SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpv.1_3'UTR|SNX21_uc002xpw.1_3'UTR|SNX21_uc002xpx.2_3'UTR|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_3'UTR|SNX21_uc002xpz.1_3'UTR NM_005469 NP_005460 O14734 ACOT8_HUMAN peroxisomal acyl-CoA thioesterase 1 isoform a 289 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding skin(1) 1 Myeloproliferative disorder(115;0.0122) GCCACAGCCGCCCATGGACCA 0.547 NA 7 19 0 0 0.004482 0 0 SLC12A5 57468 broad.mit.edu 37 20 44673636 44673636 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr20:44673636G>T uc010zxl.1 + 12 1571 c.1495G>T c.(1495-1497)GTG>TTG p.V499L SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.V476L NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 499 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAACCTCGTGGTGGGCACTCT 0.602 NA 38 180 4.32679e-17 6.21829e-17 0.006999 1 0 C20orf85 128602 broad.mit.edu 37 20 56735869 56735869 + Silent SNP C C A rs140824842 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr20:56735869C>A uc002xyv.2 + 4 443 c.405C>A c.(403-405)GGC>GGA p.G135G NM_178456 NP_848551 Q9H1P6 CT085_HUMAN hypothetical protein LOC128602 135 ovary(1) 1 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) CCAAGCAGGGCGTGCACTGAA 0.602 NA 12 29 5.50884e-06 6.35449e-06 0.001368 1 0 KCNQ2 3785 broad.mit.edu 37 20 62078122 62078122 + Nonsense_Mutation SNP G G T rs118192194 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr20:62078122G>T uc002yey.1 - 2 542 c.365C>A c.(364-366)TCG>TAG p.S122* KCNQ2_uc002yez.1_Nonsense_Mutation_p.S122*|KCNQ2_uc002yfa.1_Nonsense_Mutation_p.S122*|KCNQ2_uc002yfb.1_Nonsense_Mutation_p.S122*|KCNQ2_uc011aax.1_Nonsense_Mutation_p.S122*|KCNQ2_uc002yfc.1_Nonsense_Mutation_p.S122* NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 122 Extracellular (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GGCCCCCTCCGAGCTCTTCTC 0.632 NA 43 76 3.21987e-24 4.93776e-24 0.00361 1 0 EEF1A2 1917 broad.mit.edu 37 20 62126415 62126415 + Nonsense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr20:62126415C>A uc002yfd.1 - 3 465 c.364G>T c.(364-366)GAG>TAG p.E122* EEF1A2_uc002yfe.1_Nonsense_Mutation_p.E122*|EEF1A2_uc010gkg.1_Nonsense_Mutation_p.E122* NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 122 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GCCTCGAACTCGCCCACGCCC 0.682 NA 26 101 1.16021e-09 1.48846e-09 0.007291 1 0 POTED 317754 broad.mit.edu 37 21 14982875 14982875 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr21:14982875G>A uc002yjb.1 + 1 378 c.326G>A c.(325-327)TGC>TAC p.C109Y NM_174981 NP_778146 Q86YR6 POTED_HUMAN pote protein 109 plasma membrane ovary(3)|skin(3) 6 TTCCCCTGCTGCAGGGGGAGC 0.582 NA 6 27 0 0 0.001368 0 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127668 32127668 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr21:32127668C>A uc011adi.1 - 1 29 c.29G>T c.(28-30)TGT>TTT p.C10F NM_181619 NP_853650 Q3LI58 KR211_HUMAN keratin associated protein 21-1 10 intermediate filament breast(1) 1 gccatagccacagGAGTTGCC 0.219 NA 89 119 2.16136e-38 3.49807e-38 0.00361 1 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993707 45993707 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr21:45993707C>T uc002zfk.1 + 1 102 c.72C>T c.(70-72)TCC>TCT p.S24S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 24 keratin filament 0 ACTCTTGCTCCGACTCCTGGC 0.682 NA 6 90 0 0 0.001168 0 0 ITGB2 3689 broad.mit.edu 37 21 46323351 46323351 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr21:46323351A>G uc002zgd.2 - 4 472 c.428T>C c.(427-429)CTC>CCC p.L143P ITGB2_uc002zge.2_Missense_Mutation_p.L143P|ITGB2_uc002zgf.3_Missense_Mutation_p.L143P|ITGB2_uc011afl.1_Missense_Mutation_p.L65P|ITGB2_uc010gpw.2_Intron|ITGB2_uc002zgg.2_Missense_Mutation_p.L143P NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 143 Extracellular (Potential).|VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) GACATTCCTGAGGTCATCAAG 0.607 NA 4 69 0 0 0.000602 0 0 PLA2G3 50487 broad.mit.edu 37 22 31534710 31534710 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr22:31534710T>A uc003aka.2 - 2 719 c.590A>T c.(589-591)AAC>ATC p.N197I NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 197 Phospholipase A2-like. cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 GATGCCATAGTTGTACTGCAA 0.607 NA 62 44 0 0 0.00361 0 0 C3orf32 51066 broad.mit.edu 37 3 8672548 8672548 + Silent SNP A A C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:8672548A>C uc003bqu.2 - 6 648 c.402T>G c.(400-402)CCT>CCG p.P134P C3orf32_uc003bqz.2_Silent_p.P134P|C3orf32_uc003bqt.2_Silent_p.P83P|C3orf32_uc011atg.1_Silent_p.P156P|C3orf32_uc003bqv.2_Silent_p.P83P|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Silent_p.P134P NM_015931 NP_057015 Q9Y2M2 CC032_HUMAN hypothetical protein LOC51066 134 skin(1) 1 GAAACATCGGAGGACCTTGAA 0.532 NA 25 33 0 0 0.004656 0 0 NGLY1 55768 broad.mit.edu 37 3 25778828 25778828 + Missense_Mutation SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:25778828T>C uc003cdl.2 - 6 1108 c.1000A>G c.(1000-1002)ACA>GCA p.T334A NGLY1_uc010hfg.2_Missense_Mutation_p.T334A|NGLY1_uc003cdm.2_Missense_Mutation_p.T334A|NGLY1_uc011awo.1_Missense_Mutation_p.T292A|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 334 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 tctgtacctgtgTAATCCCAA 0.239 NA 5 22 0 0 0.001168 0 0 XIRP1 165904 broad.mit.edu 37 3 39227571 39227571 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:39227571C>T uc003cjk.1 - 2 3587 c.3366G>A c.(3364-3366)AGG>AGA p.R1122R XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1122 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CTTGCTCTTCCCTACTGACCT 0.607 NA 17 80 0 0 0.008871 0 0 XIRP1 165904 broad.mit.edu 37 3 39228427 39228427 + Missense_Mutation SNP C C T rs150075136 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:39228427C>T uc003cjk.1 - 2 2731 c.2510G>A c.(2509-2511)CGG>CAG p.R837Q XIRP1_uc003cji.2_Missense_Mutation_p.R837Q|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 837 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CACATCTGGCCGGCGCAGGAC 0.602 NA 5 59 0 0 0.001984 0 0 NBEAL2 23218 broad.mit.edu 37 3 47042821 47042821 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:47042821G>A uc003cqp.2 + 29 4716 c.4537G>A c.(4537-4539)GTG>ATG p.V1513M NBEAL2_uc010hjm.1_Missense_Mutation_p.V890M|NBEAL2_uc010hjn.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1513 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) AGAGGCCCCCGTGGGGGTCCT 0.607 NA 27 39 0 0 0.002096 0 0 MAP4 4134 broad.mit.edu 37 3 47957762 47957762 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:47957762C>A uc003csb.2 - 7 2081 c.1555G>T c.(1555-1557)GAT>TAT p.D519Y MAP4_uc003csc.3_Missense_Mutation_p.D519Y|MAP4_uc011bbf.1_Missense_Mutation_p.D496Y|MAP4_uc003csf.3_Missense_Mutation_p.D536Y NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 519 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GGAGTCACATCCTTGCCCAGA 0.517 NA 18 107 2.4624e-09 3.11351e-09 0.008871 1 0 NEK4 6787 broad.mit.edu 37 3 52800267 52800267 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:52800267A>G uc003dfq.3 - 3 674 c.485T>C c.(484-486)ATG>ACG p.M162T NEK4_uc011bej.1_Missense_Mutation_p.M73T|NEK4_uc003dfr.2_Missense_Mutation_p.M162T NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 162 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) GGTGCTAGCCATGTCACAGTG 0.448 NA 22 18 0 0 0.001882 0 0 POPDC2 64091 broad.mit.edu 37 3 119373406 119373406 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:119373406G>T uc003ecx.1 - 2 680 c.546C>A c.(544-546)TTC>TTA p.F182L POPDC2_uc010hqw.1_Missense_Mutation_p.F182L|POPDC2_uc003ecy.1_5'UTR NM_022135 NP_071418 Q9HBU9 POPD2_HUMAN popeye protein 2 182 integral to membrane central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.242) GAGAGTCCATGAACTGGTATG 0.547 NA 8 58 5.4927e-09 6.91187e-09 0.004482 1 0 PLS1 5357 broad.mit.edu 37 3 142430746 142430746 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:142430746C>G uc010huv.2 + 16 1946 c.1787C>G c.(1786-1788)GCC>GGC p.A596G PLS1_uc003euz.2_Missense_Mutation_p.A596G|PLS1_uc003eva.2_Missense_Mutation_p.A596G NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 596 CH 4.|Actin-binding 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 AAGATCGGTGCCCGGATATAT 0.378 NA 62 96 0 0 0.00361 0 0 PEX5L 51555 broad.mit.edu 37 3 179527326 179527326 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:179527326A>G uc003fki.1 - 12 1415 c.1285T>C c.(1285-1287)TAC>CAC p.Y429H PEX5L_uc011bqd.1_Missense_Mutation_p.Y386H|PEX5L_uc011bqe.1_Missense_Mutation_p.Y237H|PEX5L_uc011bqf.1_Missense_Mutation_p.Y321H|PEX5L_uc003fkj.1_Missense_Mutation_p.Y394H|PEX5L_uc010hxd.1_Missense_Mutation_p.Y427H|PEX5L_uc011bqg.1_Missense_Mutation_p.Y405H|PEX5L_uc011bqh.1_Missense_Mutation_p.Y370H NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 429 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TTCACAAGGTATTTGTACTTT 0.463 NA 10 90 0 0 0.008291 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185390392 185390392 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:185390392G>A uc003fpo.2 - 10 1216 c.1137C>T c.(1135-1137)TCC>TCT p.S379S IGF2BP2_uc010hyi.2_Silent_p.S322S|IGF2BP2_uc010hyj.2_Silent_p.S316S|IGF2BP2_uc010hyk.2_Silent_p.S243S|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Silent_p.S384S NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 379 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GAGATAGCACGGACAGTCCTG 0.552 NA 17 21 0 0 0.006122 0 0 FYTTD1 84248 broad.mit.edu 37 3 197505313 197505313 + Missense_Mutation SNP A A C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr3:197505313A>C uc003fyi.2 + 8 1055 c.836A>C c.(835-837)GAC>GCC p.D279A FYTTD1_uc011bui.1_Missense_Mutation_p.D253A|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.D212A NM_032288 NP_115664 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 isoform 1 279 mRNA export from nucleus nuclear speck mRNA binding|protein binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) CTGCAGTTTGACATAAACAGT 0.353 NA 8 34 0 0 0.006214 0 0 CPZ 8532 broad.mit.edu 37 4 8621184 8621185 + Missense_Mutation DNP CC CC AA TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:8621184_8621185CC>AA uc003glm.2 + 11 1925_1926 c.1799_1800CC>AA c.(1798-1800)CCC>CAA p.P600Q CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.P463Q|CPZ_uc003glo.2_Missense_Mutation_p.P589Q|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 600 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 AGGACTGGGCCCCACGACCCAC 0.673 NA 18 40 0 0 0.004672 0 0 CLNK 116449 broad.mit.edu 37 4 10542121 10542121 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:10542121G>T uc003gmo.3 - 11 736 c.599C>A c.(598-600)CCC>CAC p.P200H CLNK_uc003gmp.2_Missense_Mutation_p.P158H NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN mast cell immunoreceptor signal transducer 200 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity ovary(1) 1 CTCTCACCTGGGCATTCTCTG 0.522 GBM(87;402 1286 6949 13902 35851) NA 4 43 0.000602214 0.000653123 0.000602 1 0 RAB28 9364 broad.mit.edu 37 4 13378210 13378210 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:13378210G>A uc003gmu.2 - 6 747 c.532C>T c.(532-534)CTT>TTT p.L178F RAB28_uc003gmt.2_Missense_Mutation_p.L178F|RAB28_uc011bwz.1_Missense_Mutation_p.L178F|RAB28_uc003gmv.2_RNA NM_001017979 NP_001017979 P51157 RAB28_HUMAN RAB28, member RAS oncogene family isoform 1 178 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity ovary(1)|skin(1) 2 TTGATCCCAAGGATTTCAGCA 0.299 NA 13 62 0 0 0.00245 0 0 RHOH 399 broad.mit.edu 37 4 40245386 40245386 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:40245386G>T uc003guz.2 + 3 1104 c.380G>T c.(379-381)AGG>ATG p.R127M NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 127 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 GGGCCCCACAGGGCCTCCTGC 0.582 NA 18 47 7.07596e-05 7.90224e-05 0.006122 1 0 LPHN3 23284 broad.mit.edu 37 4 62598771 62598771 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:62598771G>T uc010ihh.2 + 5 867 c.694G>T c.(694-696)GAT>TAT p.D232Y LPHN3_uc003hcq.3_Missense_Mutation_p.D232Y|LPHN3_uc010ihg.1_Missense_Mutation_p.D300Y|LPHN3_uc003hcs.1_Missense_Mutation_p.D61Y NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 232 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 AGTAAAGTTTGATTTGCGGAC 0.458 NA 8 34 1.76689e-08 2.18679e-08 0.006214 1 0 STATH 6779 broad.mit.edu 37 4 70864186 70864186 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:70864186C>T uc003heu.1 + 2 142 c.32C>T c.(31-33)GCT>GTT p.A11V STATH_uc003hev.1_Missense_Mutation_p.A11V NM_003154 NP_003145 P02808 STAT_HUMAN statherin isoform a 11 biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion extracellular region extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel skin(1) 1 TTCATCTTGGCTCTCATGGTT 0.388 NA 7 78 0 0 0.006214 0 0 CSN3 1448 broad.mit.edu 37 4 71114826 71114826 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:71114826C>T uc003hfe.3 + 4 257 c.199C>T c.(199-201)CCA>TCA p.P67S NM_005212 NP_005203 P07498 CASK_HUMAN casein kappa precursor 67 extracellular region protein binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CCAACGTAGACCAGCTATAGC 0.413 NA 9 114 0 0 0.004482 0 0 CXXC4 80319 broad.mit.edu 37 4 105412377 105412377 + Missense_Mutation SNP T T G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:105412377T>G uc003hxg.2 - 1 91 c.76A>C c.(76-78)ACT>CCT p.T26P uc003hxh.1_Intron|CXXC4_uc010ilo.2_Intron NM_025212 NP_079488 Q9H2H0 CXXC4_HUMAN CXXC finger 4 26 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) AGGAAATTAGTATTTGCCATT 0.502 NA 17 214 0 0 0.008871 0 0 NDST4 64579 broad.mit.edu 37 4 115760534 115760534 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:115760534C>T uc003ibu.2 - 11 2965 c.2286G>A c.(2284-2286)CAG>CAA p.Q762Q NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 762 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGGACATTACCTGAGAAGTAG 0.333 NA 14 72 0 0 0.004007 0 0 SPATA5 166378 broad.mit.edu 37 4 123900432 123900432 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:123900432C>A uc003iez.3 + 10 1833 c.1760C>A c.(1759-1761)CCT>CAT p.P587H SPATA5_uc003iey.2_Missense_Mutation_p.P586H NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 587 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 CCTAACCTCCCTGATGTCAAG 0.423 NA 12 50 0.00010058 0.000111614 0.001368 1 0 PCDH10 57575 broad.mit.edu 37 4 134072556 134072556 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:134072556C>A uc003iha.2 + 1 2087 c.1261C>A c.(1261-1263)CTG>ATG p.L421M uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.L421M NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 421 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CGAAGCCCCCCTGGACCGAGA 0.592 NA 44 173 5.99346e-17 8.59008e-17 0.00361 1 0 NPY5R 4889 broad.mit.edu 37 4 164271568 164271568 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:164271568A>G uc003iqn.2 + 4 325 c.143A>G c.(142-144)TAT>TGT p.Y48C NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 48 Helical; Name=1; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) ATTGGGCTCTATACATTTGTA 0.388 Melanoma(139;1287 1774 9781 19750 25599) NA 14 126 0 0 0.001855 0 0 SORBS2 8470 broad.mit.edu 37 4 186544784 186544784 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:186544784G>C uc003iyl.2 - 13 2645 c.1787C>G c.(1786-1788)TCC>TGC p.S596C SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.S696C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.S500C|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.S710C|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 596 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GTCGCTGTCGGAAAACTCCAC 0.587 Esophageal Squamous(153;41 2433 9491 36028) NA 5 45 0 0 0.001168 0 0 NKD2 85409 broad.mit.edu 37 5 1037950 1037950 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:1037950C>T uc003jbt.1 + 10 823 c.818C>T c.(817-819)CCC>CTC p.P273L NKD2_uc010itf.1_3'UTR NM_033120 NP_149111 Q969F2 NKD2_HUMAN naked cuticle homolog 2 273 exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding 0 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) AAGCAGGAGCCCCAGGGCAGG 0.657 NA 9 30 0 0 0.000978 0 0 SLC12A7 10723 broad.mit.edu 37 5 1089150 1089150 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:1089150C>A uc003jbu.2 - 4 502 c.436G>T c.(436-438)GGG>TGG p.G146W NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 146 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCAGCCACCCCCACGATCCAC 0.657 NA 17 102 5.03518e-11 6.6713e-11 0.007413 1 0 SEMA6A 57556 broad.mit.edu 37 5 115782666 115782666 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:115782666G>A uc010jck.2 - 19 3445 c.2736C>T c.(2734-2736)TAC>TAT p.Y912Y SEMA6A_uc003krx.3_Silent_p.Y929Y|SEMA6A_uc011cwe.1_Silent_p.Y291Y|SEMA6A_uc003krv.3_Silent_p.Y339Y|SEMA6A_uc003krw.3_Silent_p.Y389Y|SEMA6A_uc010jcj.2_Silent_p.Y456Y NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 912 Cytoplasmic (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) AGTCAACCCCGTAGGAAGAGG 0.577 NA 21 68 0 0 0.010504 0 0 CSNK1G3 1456 broad.mit.edu 37 5 122893250 122893250 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:122893250G>T uc003ktm.2 + 4 1000 c.281G>T c.(280-282)GGA>GTA p.G94V CSNK1G3_uc003ktl.2_Missense_Mutation_p.G94V|CSNK1G3_uc003ktn.2_Missense_Mutation_p.G94V|CSNK1G3_uc003kto.2_Missense_Mutation_p.G94V|CSNK1G3_uc011cwr.1_Missense_Mutation_p.G19V|CSNK1G3_uc011cws.1_Intron|CSNK1G3_uc010jda.2_Missense_Mutation_p.G94V NM_004384 NP_004375 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 isoform 1 94 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) AAGCAGTTAGGATCTGGAGGT 0.289 Pancreas(187;2868 2964 4353 6297) NA 13 17 4.93089e-13 6.8615e-13 0.00245 1 0 BRD8 10902 broad.mit.edu 37 5 137501759 137501760 + Missense_Mutation DNP CC CC AA TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:137501759_137501760CC>AA uc003lcf.1 - 11 1090_1091 c.1035_1036GG>TT c.(1033-1038)GTGGGG>GTTTGG p.G346W BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.G125W|BRD8_uc003lcg.2_Missense_Mutation_p.G419W|BRD8_uc003lci.2_Missense_Mutation_p.G349W|BRD8_uc003lch.2_Missense_Mutation_p.G240W|BRD8_uc011cym.1_Missense_Mutation_p.G330W|BRD8_uc010jer.1_Missense_Mutation_p.G315W|BRD8_uc011cyn.1_Missense_Mutation_p.G305W NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 346 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGTGGATCCCCCACAGCCTCCA 0.46 NA 47 69 0 0 0.004672 0 0 FAM53C 51307 broad.mit.edu 37 5 137681066 137681066 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:137681066G>T uc003lcv.2 + 4 1159 c.689G>T c.(688-690)CGC>CTC p.R230L FAM53C_uc003lcw.2_Missense_Mutation_p.R230L|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 230 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCTCAGCGCCGCTTCTCCCTG 0.672 NA 50 78 1.32667e-27 2.08307e-27 0.00361 1 0 PCDHB3 56132 broad.mit.edu 37 5 140481673 140481673 + Silent SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:140481673A>T uc003lio.2 + 1 1440 c.1440A>T c.(1438-1440)TCA>TCT p.S480S uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 480 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGAGACTCAGGCACCAACG 0.647 NA 81 286 0 0 0.00361 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553848 140553848 + Nonsense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:140553848A>T uc003lit.2 + 1 1606 c.1432A>T c.(1432-1434)AGA>TGA p.R478* NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 478 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCCACAGACAGAGACTCGGG 0.642 NA 61 100 0 0 0.00361 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559961 140559961 + Silent SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:140559961A>T uc011dai.1 + 1 2532 c.2346A>T c.(2344-2346)CCA>CCT p.P782P PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 782 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTTTGGGCCAGAAATGGAAC 0.378 NA 46 46 0 0 0.003214 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572515 140572515 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:140572515G>T uc003lix.2 + 1 564 c.390G>T c.(388-390)GCG>GCT p.A130A NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 130 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)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGATCACGCGCCAGTATTTC 0.423 NA 54 55 8.28887e-21 1.24215e-20 0.00361 1 0 PCDHB10 56126 broad.mit.edu 37 5 140573763 140573763 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:140573763G>T uc003lix.2 + 1 1812 c.1638G>T c.(1636-1638)CTG>CTT p.L546L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 546 Cadherin 5.|Extracellular (Potential). 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) GAGAGGCGCTGGTGCGCGTGC 0.711 NA 34 33 2.47872e-24 3.82349e-24 0.002522 1 0 GRIA1 2890 broad.mit.edu 37 5 153078536 153078536 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:153078536A>G uc003lva.3 + 10 1720 c.1355A>G c.(1354-1356)TAC>TGC p.Y452C GRIA1_uc003luy.3_Missense_Mutation_p.Y452C|GRIA1_uc003luz.3_Missense_Mutation_p.Y357C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.Y372C|GRIA1_uc011dcx.1_Missense_Mutation_p.Y383C|GRIA1_uc011dcy.1_Missense_Mutation_p.Y462C|GRIA1_uc011dcz.1_Missense_Mutation_p.Y462C|GRIA1_uc010jia.1_Missense_Mutation_p.Y432C NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 452 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CACGTGGGCTACTCCTACCGT 0.537 NA 27 33 0 0 0.003954 0 0 GRIA1 2890 broad.mit.edu 37 5 153182019 153182019 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:153182019A>G uc003lva.3 + 15 2854 c.2489A>G c.(2488-2490)TAC>TGC p.Y830C GRIA1_uc003luy.3_Missense_Mutation_p.Y830C|GRIA1_uc003luz.3_Missense_Mutation_p.Y735C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.Y750C|GRIA1_uc011dcx.1_Missense_Mutation_p.Y761C|GRIA1_uc011dcy.1_Missense_Mutation_p.Y840C|GRIA1_uc011dcz.1_Missense_Mutation_p.Y840C NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 830 Cytoplasmic (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAGTTCTGCTACAAATCCCGT 0.532 NA 70 86 0 0 0.00361 0 0 GALNT10 55568 broad.mit.edu 37 5 153789304 153789304 + Silent SNP G G T rs139278178 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:153789304G>T uc003lvh.2 + 9 1500 c.1368G>T c.(1366-1368)CCG>CCT p.P456P GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.P297P|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.P127P NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 456 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TGGAGCCCCCGGCTGCAGCTT 0.274 NA 44 56 3.21987e-24 4.93776e-24 0.00361 1 0 KIF4B 285643 broad.mit.edu 37 5 154395457 154395457 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:154395457C>T uc010jih.1 + 1 2198 c.2038C>T c.(2038-2040)CGT>TGT p.R680C NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 680 Interaction with PRC1 (By similarity).|Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGAACGAGACCGTAAGAGGCA 0.433 NA 47 59 0 0 0.00361 0 0 CCDC99 54908 broad.mit.edu 37 5 169015423 169015423 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:169015423G>T uc003mae.3 + 2 282 c.3G>T c.(1-3)ATG>ATT p.M1I CCDC99_uc010jjj.2_5'UTR|CCDC99_uc011deq.1_5'UTR|CCDC99_uc010jjk.2_5'UTR NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 1 cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAAGAACATGGAGGCAGATA 0.343 NA 4 39 0.00024832 0.000272685 0.009096 1 0 BTNL3 10917 broad.mit.edu 37 5 180419848 180419848 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr5:180419848C>A uc003mmr.2 + 2 213 c.85C>A c.(85-87)CAG>AAG p.Q29K NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 29 Extracellular (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) CAAGTTTGTCCAGGCCTTGGT 0.542 NA 41 53 7.63091e-17 1.09072e-16 0.007835 1 0 HUS1B 135458 broad.mit.edu 37 6 656832 656832 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:656832C>A uc003mtg.2 - 1 133 c.113G>T c.(112-114)AGC>ATC p.S38I EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 38 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) GAAGCACAGGCTGTCAGGGCG 0.672 NA 7 18 0.00198382 0.00211661 0.001984 1 0 SLC22A23 63027 broad.mit.edu 37 6 3410511 3410511 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:3410511G>A uc003mvm.3 - 3 824 c.824C>T c.(823-825)GCA>GTA p.A275V SLC22A23_uc003mvn.3_5'UTR|SLC22A23_uc003mvo.3_5'UTR|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.A275V|SLC22A23_uc010jno.2_Missense_Mutation_p.A275V NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 275 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) CACTGACAGTGCCACAGTCAG 0.468 NA 12 25 0 0 0.001368 0 0 SLC22A23 63027 broad.mit.edu 37 6 3410527 3410527 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:3410527A>G uc003mvm.3 - 3 808 c.808T>C c.(808-810)TTT>CTT p.F270L SLC22A23_uc003mvn.3_5'UTR|SLC22A23_uc003mvo.3_5'UTR|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.F270L|SLC22A23_uc010jno.2_Missense_Mutation_p.F270L NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 270 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) GTCAGTCCAAAGATCAGAATG 0.463 NA 10 23 0 0 0.006214 0 0 PIP5K1P1 206426 broad.mit.edu 37 6 7986935 7986935 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:7986935G>T uc003mxx.3 + 1 601 c.166G>T c.(166-168)GTC>TTC p.V56F TXNDC5_uc003mxw.2_Intron NR_027712 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 CCATCGAGGTGTCGATTCCTC 0.512 NA 7 44 1.06961e-07 1.30235e-07 0.00308 1 0 HIVEP1 3096 broad.mit.edu 37 6 12125963 12125963 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:12125963G>T uc003nac.2 + 4 6114 c.5935G>T c.(5935-5937)GGT>TGT p.G1979C HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1979 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AAATCCACTCGGTTTGCCCAC 0.418 NA 58 54 2.23044e-30 3.54444e-30 0.00361 1 0 HDGFL1 154150 broad.mit.edu 37 6 22570035 22570035 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:22570035G>T uc003nds.2 + 1 358 c.231G>T c.(229-231)GCG>GCT p.A77A NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 77 0 Ovarian(93;0.163) GCTTCAGCGCGGGGCTGTGGG 0.647 NA 6 15 3.59834e-05 4.06164e-05 0.001168 1 0 PEX6 5190 broad.mit.edu 37 6 42934550 42934550 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:42934550C>A uc003otf.2 - 9 2024 c.1931G>T c.(1930-1932)CGG>CTG p.R644L PEX6_uc010jya.2_RNA NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 644 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) GCAGGCTGCCCGGCTGCTGTG 0.577 NA 100 180 1.54877e-32 2.4913e-32 0.00361 1 0 COL21A1 81578 broad.mit.edu 37 6 55922555 55922556 + Missense_Mutation DNP CC CC AA TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:55922555_55922556CC>AA uc003pcs.2 - 30 3005_3006 c.2773_2774GG>TT c.(2773-2775)GGA>TTA p.G925L COL21A1_uc010jzz.2_Missense_Mutation_p.G310L|COL21A1_uc011dxg.1_Missense_Mutation_p.G298L|COL21A1_uc011dxh.1_Missense_Mutation_p.G276L|COL21A1_uc003pcr.2_Missense_Mutation_p.G282L NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 925 cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCCTTGGATTCCAGGTTTTCCA 0.515 NA 9 13 0 0 0.004672 0 0 PRIM2 5558 broad.mit.edu 37 6 57246828 57246828 + Splice_Site SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:57246828G>T uc003pdx.2 + 7 643 c.556_splice c.e7-1 p.I186_splice PRIM2_uc003pdw.2_Splice_Site_p.I186_splice NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TCTTAATTCAGATCCCTTTTG 0.363 NA 5 30 0.00116845 0.00125686 0.001168 1 0 PRIM2 5558 broad.mit.edu 37 6 57398165 57398165 + Nonsense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:57398165C>T uc003pdx.2 + 10 955 c.868C>T c.(868-870)CAG>TAG p.Q290* NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 290 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTACATGCATCAGTTACATAA 0.388 NA 49 101 0 0 0.00361 0 0 TTK 7272 broad.mit.edu 37 6 80717571 80717571 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:80717571C>T uc003pjc.2 + 3 259 c.185C>T c.(184-186)CCA>CTA p.P62L TTK_uc003pjb.3_Missense_Mutation_p.P62L NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 62 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) GCAAACAACCCAGAGGACTGG 0.348 NA 22 37 0 0 0.001882 0 0 HTR1E 3354 broad.mit.edu 37 6 87725316 87725316 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:87725316G>T uc003pli.2 + 2 967 c.264G>T c.(262-264)TGG>TGT p.W88C NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 88 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TGGATCGCTGGAAGCTTGGGT 0.562 NA 21 86 7.45023e-12 1.01261e-11 0.010504 1 0 ZNF292 23036 broad.mit.edu 37 6 87968813 87968813 + Silent SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:87968813A>G uc003plm.3 + 8 5507 c.5466A>G c.(5464-5466)AAA>AAG p.K1822K NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1822 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TGCCAACAAAAAGTAACATTC 0.333 NA 18 12 0 0 0.00499 0 0 KLHL32 114792 broad.mit.edu 37 6 97533105 97533105 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:97533105C>A uc010kcm.1 + 6 987 c.515C>A c.(514-516)TCT>TAT p.S172Y KLHL32_uc003poy.2_Missense_Mutation_p.S172Y|KLHL32_uc011ead.1_Missense_Mutation_p.S136Y|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.S103Y|KLHL32_uc003ppa.2_RNA NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 172 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) AAACATCTCTCTGAACTCCTG 0.468 NA 12 81 6.40141e-05 7.16413e-05 0.000978 1 0 KLHL32 114792 broad.mit.edu 37 6 97562130 97562130 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:97562130A>G uc010kcm.1 + 7 1571 c.1099A>G c.(1099-1101)ACT>GCT p.T367A KLHL32_uc003poy.2_Missense_Mutation_p.T367A|KLHL32_uc011ead.1_Missense_Mutation_p.T331A|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.T298A|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 367 Kelch 2. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TGCTGTGAGGACTGCCTGTCG 0.572 NA 27 20 0 0 0.004656 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599608 136599608 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:136599608C>T uc003qgx.1 - 4 664 c.411G>A c.(409-411)AGG>AGA p.R137R BCLAF1_uc003qgw.1_Silent_p.R137R|BCLAF1_uc003qgy.1_Silent_p.R135R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.R135R NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 137 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ATCTTGGAGACCTAGAAGATC 0.443 Colon(142;1534 1789 5427 7063 28491) NA 56 336 0 0 0.00361 0 0 MLLT4 4301 broad.mit.edu 37 6 168281113 168281113 + Silent SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:168281113A>T uc003qwd.2 + 6 952 c.810A>T c.(808-810)ACA>ACT p.T270T MLLT4_uc003qwb.1_Silent_p.T270T|MLLT4_uc003qwc.1_Silent_p.T271T|MLLT4_uc003qwf.2_5'UTR NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 271 Ras-associating 2. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TGTCTACTACAGATCCTGCAG 0.393 NA T MLL AL 38 144 0 0 0.004878 0 0 THBS2 7058 broad.mit.edu 37 6 169622404 169622404 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr6:169622404G>T uc003qwt.2 - 20 3409 c.3161C>A c.(3160-3162)CCC>CAC p.P1054H NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 1054 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGCCCGCGTGGGCTGGTCCTC 0.627 Esophageal Squamous(91;219 1934 18562 44706) NA 19 21 6.49762e-13 8.94698e-13 0.006122 1 0 FERD3L 222894 broad.mit.edu 37 7 19184873 19184873 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:19184873G>C uc003suo.1 - 1 172 c.113C>G c.(112-114)TCC>TGC p.S38C uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 38 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 GTCCCCCAAGGAGACCCCGGG 0.537 NA 24 51 0 0 0.005443 0 0 C7orf46 340277 broad.mit.edu 37 7 23731012 23731012 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:23731012C>G uc003swo.3 + 4 523 c.434C>G c.(433-435)TCC>TGC p.S145C C7orf46_uc003swq.3_Missense_Mutation_p.S145C|C7orf46_uc003swr.3_Missense_Mutation_p.S87C|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA NM_199136 NP_954587 A4D161 CG046_HUMAN hypothetical protein LOC340277 isoform 1 145 0 GATTCAGGTTCCAAGTGTTCA 0.438 NA 52 113 0 0 0.00361 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378046 31378046 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:31378046C>T uc003tch.2 - 2 1190 c.837G>A c.(835-837)TTG>TTA p.L279L NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 279 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 TACCATAGTCCAAGGTTTCTT 0.507 NA 7 67 0 0 0.001984 0 0 GLI3 2737 broad.mit.edu 37 7 42005160 42005160 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:42005160C>A uc011kbh.1 - 15 3602 c.3511G>T c.(3511-3513)GAC>TAC p.D1171Y GLI3_uc011kbg.1_Missense_Mutation_p.D1112Y NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1171 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GAGGACAGGTCGGCGCTTCCG 0.667 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 30 183 3.73148e-12 5.08486e-12 0.007291 1 0 MYL7 58498 broad.mit.edu 37 7 44179170 44179170 + Splice_Site SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:44179170T>A uc003tkg.2 - 6 390 c.378_splice c.e6-1 p.E126_splice NM_021223 NP_067046 Q01449 MLRA_HUMAN myosin light chain 2a actin filament-based movement|smooth muscle contraction A band|myosin complex ATPase activity, coupled|calcium ion binding|microfilament motor activity 0 TGCTTGAACCTGGGGGGTGAG 0.632 NA 18 104 0 0 0.001882 0 0 C7orf69 80099 broad.mit.edu 37 7 47857769 47857769 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:47857769T>A uc003tnz.3 + 2 299 c.254T>A c.(253-255)ATG>AAG p.M85K PKD1L1_uc003tny.1_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Intron NM_025031 NP_079307 Q9H7B7 CG069_HUMAN hypothetical protein LOC80099 precursor 85 extracellular region 0 AGAACACAGATGGAGACAGAG 0.488 NA 4 36 0 0 0.000602 0 0 PKD1L1 168507 broad.mit.edu 37 7 47913531 47913531 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:47913531G>T uc003tny.1 - 24 3862 c.3862C>A c.(3862-3864)CGC>AGC p.R1288S NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1288 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane p.R1288H(1) ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CCATGGTAGCGGGGCAGCACA 0.512 NA 6 71 1.06961e-07 1.30235e-07 0.00308 1 0 PKD1L1 168507 broad.mit.edu 37 7 47955083 47955083 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:47955083C>G uc003tny.1 - 8 1174 c.1174G>C c.(1174-1176)GAA>CAA p.E392Q NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 392 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 tctgagtcttccaggcagctg 0.045 NA 16 118 0 0 0.004007 0 0 ABCA13 154664 broad.mit.edu 37 7 48411901 48411901 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:48411901C>T uc003toq.2 + 33 10965 c.10940C>T c.(10939-10941)ACC>ATC p.T3647I ABCA13_uc010kys.1_Missense_Mutation_p.T721I|ABCA13_uc003tos.1_Missense_Mutation_p.T473I NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3647 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CACAGCAATACCTTTATTGTT 0.468 NA 9 202 0 0 0.004482 0 0 ZPBP 11055 broad.mit.edu 37 7 50070791 50070791 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:50070791C>A uc003tou.2 - 5 673 c.603G>T c.(601-603)CTG>CTT p.L201L ZPBP_uc011kci.1_Silent_p.L127L|ZPBP_uc010kyw.2_Silent_p.L200L NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 201 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) GGTCAAGAAGCAGTTTGCTTA 0.333 NA 19 68 1.67942e-08 2.08343e-08 0.006122 1 0 DDC 1644 broad.mit.edu 37 7 50547497 50547497 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:50547497G>T uc003tpf.3 - 10 1095 c.1009C>A c.(1009-1011)CAT>AAT p.H337N DDC_uc010kza.2_Missense_Mutation_p.H252N|DDC_uc003tpg.3_Missense_Mutation_p.H337N NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 337 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GAATCCTGATGGCTGTGCTTC 0.507 NA 13 123 4.36969e-10 5.6752e-10 0.001855 1 0 MRPS17 51373 broad.mit.edu 37 7 56022736 56022736 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:56022736C>T uc003trd.2 + 3 288 c.258C>T c.(256-258)TTC>TTT p.F86F MRPS17_uc003trb.2_Silent_p.F181F NM_015969 NP_057053 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 precursor 86 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AGATCGTTTTCAAAGTTGGAA 0.478 NA 22 207 0 0 0.002299 0 0 ZNF716 441234 broad.mit.edu 37 7 57529061 57529061 + Silent SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:57529061T>C uc011kdi.1 + 4 1006 c.894T>C c.(892-894)TGT>TGC p.C298C NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 CCTACACATGTGAAGAATGTG 0.423 NA 14 27 0 0 0.001855 0 0 CACNA2D1 781 broad.mit.edu 37 7 81598227 81598227 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:81598227G>T uc003uhr.1 - 29 2627 c.2371C>A c.(2371-2373)CAA>AAA p.Q791K CACNA2D1_uc011kgy.1_Intron NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 803 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) AGTTTCCCTTGAATATATATT 0.289 NA 12 98 0.00400662 0.00425754 0.004007 1 0 PCLO 27445 broad.mit.edu 37 7 82451886 82451886 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:82451886G>C uc003uhx.2 - 20 15005 c.14716C>G c.(14716-14718)CAG>GAG p.Q4906E PCLO_uc003uhv.2_Missense_Mutation_p.Q4906E|PCLO_uc003uht.1_Missense_Mutation_p.Q348E|PCLO_uc003uhu.1_Missense_Mutation_p.Q327E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4768 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGGTGGGTCTGAGTGACGCTG 0.498 NA 26 236 0 0 0.004656 0 0 PCLO 27445 broad.mit.edu 37 7 82585212 82585212 + Missense_Mutation SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:82585212T>C uc003uhx.2 - 5 5346 c.5057A>G c.(5056-5058)CAG>CGG p.Q1686R PCLO_uc003uhv.2_Missense_Mutation_p.Q1686R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1617 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGTTTTTTTCTGTGATGACTC 0.418 NA 16 64 0 0 0.003163 0 0 GRM3 2913 broad.mit.edu 37 7 86416098 86416098 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:86416098C>A uc003uid.2 + 3 2089 c.990C>A c.(988-990)GTC>GTA p.V330V GRM3_uc010lef.2_Silent_p.V328V|GRM3_uc010leg.2_Silent_p.V202V|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 330 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) CCCAGCCTGTCCGCCAGTTCG 0.647 GBM(52;969 1098 3139 52280) NA 5 39 0.000602214 0.000653123 0.000602 1 0 CCDC132 55610 broad.mit.edu 37 7 92987717 92987717 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:92987717C>A uc003umo.2 + 28 2992 c.2864C>A c.(2863-2865)GCT>GAT p.A955D CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.A925D|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.A675D NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 955 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CTTCTAGCAGCTATAGATGAT 0.388 NA 28 121 1.04121e-07 1.27367e-07 0.005443 1 0 CYP3A5 1577 broad.mit.edu 37 7 99264642 99264642 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:99264642T>A uc003urq.2 - 5 452 c.365A>T c.(364-366)GAG>GTG p.E122V ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_5'UTR|CYP3A5_uc003urr.2_Missense_Mutation_p.E9V|CYP3A5_uc011kiy.1_Missense_Mutation_p.E112V|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 122 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) TTCTTCATCCTCAGCTAAAGA 0.393 NA 9 83 0 0 0.006214 0 0 CYP3A4 1576 broad.mit.edu 37 7 99366022 99366022 + Missense_Mutation SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:99366022T>C uc003urv.1 - 7 729 c.625A>G c.(625-627)AAG>GAG p.K209E CYP3A4_uc003urw.1_Missense_Mutation_p.K209E|CYP3A4_uc011kiz.1_Missense_Mutation_p.K168E|CYP3A4_uc011kja.1_Missense_Mutation_p.K160E|CYP3A4_uc011kjb.1_Missense_Mutation_p.K59E NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 209 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CTTAAAAGCTTCTTGGTGTTT 0.353 NA 18 113 0 0 0.008871 0 0 MUC17 140453 broad.mit.edu 37 7 100677847 100677847 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:100677847C>T uc003uxp.1 + 3 3203 c.3150C>T c.(3148-3150)AGC>AGT p.S1050S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1050 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TGCCTGTCAGCACCACAATGG 0.502 NA 64 858 0 0 0.00361 0 0 MUC17 140453 broad.mit.edu 37 7 100686347 100686347 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:100686347A>G uc003uxp.1 + 3 11703 c.11650A>G c.(11650-11652)ACA>GCA p.T3884A MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3884 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TGTCAGCACCACACTTCCAAC 0.478 NA 11 159 0 0 0.000978 0 0 SLC26A3 1811 broad.mit.edu 37 7 107431532 107431532 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:107431532C>A uc003ver.2 - 5 742 c.531G>T c.(529-531)GCG>GCT p.A177A SLC26A3_uc003ves.2_Silent_p.A142A NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 177 Helical; (Potential). excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 ATGCCGCCGCCGCCACCCTCA 0.483 NA 24 37 6.44725e-10 8.35284e-10 0.002299 1 0 C7orf58 79974 broad.mit.edu 37 7 120876791 120876791 + Silent SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:120876791A>T uc003vjq.3 + 17 2526 c.2079A>T c.(2077-2079)CCA>CCT p.P693P C7orf58_uc003vjs.3_Silent_p.P693P|C7orf58_uc003vjt.3_Silent_p.P473P NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 693 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) TGATTCATCCAGAGGAAACCT 0.333 NA 14 60 0 0 0.00499 0 0 FSCN3 29999 broad.mit.edu 37 7 127235724 127235724 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:127235724G>A uc003vmd.1 + 2 727 c.508G>A c.(508-510)GCA>ACA p.A170T FSCN3_uc003vmc.1_Missense_Mutation_p.A125T|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.A36T|FSCN3_uc010llc.1_Missense_Mutation_p.A170T NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 170 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 CTGGGTGGACGCAGCAGTTCC 0.607 NA 14 80 0 0 0.001855 0 0 CPA2 1358 broad.mit.edu 37 7 129906730 129906730 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:129906730G>A uc003vpq.2 + 1 28 c.9G>A c.(7-9)ATG>ATA p.M3I CPA2_uc011kpc.1_Missense_Mutation_p.M3I NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 3 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) CCATGGCCATGAGGTTGATCC 0.443 NA 40 119 0 0 0.006999 0 0 PLXNA4 91584 broad.mit.edu 37 7 131913175 131913175 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:131913175G>A uc003vra.3 - 6 1887 c.1658C>T c.(1657-1659)TCG>TTG p.S553L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 553 PSI 1.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CTTCATCTCCGAGGCAAACCT 0.607 NA 4 47 0 0 0.009096 0 0 CHRM2 1129 broad.mit.edu 37 7 136699780 136699780 + Silent SNP C C G rs78847341 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:136699780C>G uc003vtf.1 + 4 791 c.168C>G c.(166-168)ACC>ACG p.T56T CHRM2_uc003vtg.1_Silent_p.T56T|CHRM2_uc003vtj.1_Silent_p.T56T|CHRM2_uc003vtk.1_Silent_p.T56T|CHRM2_uc003vtl.1_Silent_p.T56T|CHRM2_uc003vtm.1_Silent_p.T56T|CHRM2_uc003vti.1_Silent_p.T56T|CHRM2_uc003vto.1_Silent_p.T56T|CHRM2_uc003vtn.1_Silent_p.T56T|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 56 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ACCTCCAGACCGTCAACAATT 0.458 NA 20 135 0 0 0.007413 0 0 MGAM 8972 broad.mit.edu 37 7 141802436 141802436 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:141802436A>T uc003vwy.2 + 46 5336 c.5282A>T c.(5281-5283)TAT>TTT p.Y1761F NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1761 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GCAGATACCTATGGGAAAGGA 0.423 NA 4 30 0 0 0.009096 0 0 PRSS1 5644 broad.mit.edu 37 7 142459841 142459841 + Nonsense_Mutation SNP C C A rs141847266 by1000genomes TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:142459841C>A uc003wak.2 + 3 434 c.417C>A c.(415-417)TGC>TGA p.C139* uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Nonsense_Mutation_p.C79* NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 139 Peptidase S1. C -> F (in PCTT). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GCACGAAGTGCCTCATCTCTG 0.562 NA Hereditary_Pancreatitis 22 72 1.10923e-09 1.42654e-09 0.00278 1 0 EPHB6 2051 broad.mit.edu 37 7 142562249 142562250 + Missense_Mutation DNP AC AC TA TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:142562249_142562250AC>TA uc011kst.1 + 7 1478_1479 c.691_692AC>TA c.(691-693)ACC>TAC p.T231Y EPHB6_uc011ksu.1_Missense_Mutation_p.T231Y|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_Intron|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 231 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) CTTCTCCTACACCTGCCCTGCC 0.668 NA 29 116 0 0 0.004672 0 0 TRPV6 55503 broad.mit.edu 37 7 142575012 142575012 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:142575012C>T uc003wbx.1 - 4 586 c.370G>A c.(370-372)GCT>ACT p.A124T TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 124 ANK 3.|Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) TTCACAACAGCGATGTGCAGT 0.627 NA 32 58 0 0 0.002445 0 0 TRPV5 56302 broad.mit.edu 37 7 142612512 142612512 + Silent SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:142612512T>C uc003wby.1 - 10 1515 c.1251A>G c.(1249-1251)GGA>GGG p.G417G NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 417 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) GAATCGTCTTTCCAAAATAGC 0.507 NA 29 114 0 0 0.002445 0 0 TRPV5 56302 broad.mit.edu 37 7 142622786 142622786 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:142622786C>T uc003wby.1 - 8 1224 c.960G>A c.(958-960)AAG>AAA p.K320K TRPV5_uc003wbz.2_Silent_p.K320K NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 320 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) ACTTGTTCCACTTGAAGCTCA 0.532 NA 4 37 0 0 0.000602 0 0 KEL 3792 broad.mit.edu 37 7 142649608 142649608 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:142649608C>A uc003wcb.2 - 10 1401 c.1191G>T c.(1189-1191)GAG>GAT p.E397D NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 397 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) TGGGTGGTTGCTCTGTCAGTT 0.532 NA 9 67 3.86212e-05 4.34076e-05 0.008291 1 0 CASP2 835 broad.mit.edu 37 7 142997328 142997328 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:142997328C>T uc003wco.2 + 8 1055 c.908C>T c.(907-909)GCC>GTC p.A303V CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Missense_Mutation_p.A187V|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Missense_Mutation_p.A53V NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 303 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) TTTGACAACGCCAACTGCCCA 0.527 NA 6 87 0 0 0.001984 0 0 OR2A25 392138 broad.mit.edu 37 7 143771910 143771910 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:143771910G>T uc011ktx.1 + 1 598 c.598G>T c.(598-600)GCA>TCA p.A200S NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) AATGGTTTTGGCAGGGGCAGT 0.443 NA 22 168 2.70639e-06 3.15646e-06 0.002299 1 0 C7orf29 113763 broad.mit.edu 37 7 150027807 150027807 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:150027807A>G uc003wgy.2 + 1 870 c.314A>G c.(313-315)TAC>TGC p.Y105C LRRC61_uc003wgv.2_Intron|LRRC61_uc003wgx.2_Intron|LRRC61_uc003wgw.2_Intron NM_138434 NP_612443 Q96FA7 CG029_HUMAN hypothetical protein LOC113763 105 ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.011) GTCCTCGTGTACAAGGTGAAG 0.577 NA 12 106 0 0 0.000978 0 0 CSMD1 64478 broad.mit.edu 37 8 2830736 2830736 + Silent SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:2830736G>C uc011kwk.1 - 57 9219 c.8829C>G c.(8827-8829)CTC>CTG p.L2943L CSMD1_uc011kwj.1_Silent_p.L2272L|CSMD1_uc010lrg.2_Silent_p.L953L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2943 Extracellular (Potential).|Sushi 22. 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) AGGAGAAGCGGAGAAGACTCT 0.537 NA 24 84 0 0 0.002299 0 0 RP1L1 94137 broad.mit.edu 37 8 10470122 10470122 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:10470122C>G uc003wtc.2 - 4 1715 c.1486G>C c.(1486-1488)GGA>CGA p.G496R NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 496 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGGCTCCCTCCAGCTTTCCGC 0.706 NA 13 20 0 0 0.001855 0 0 NAT1 9 broad.mit.edu 37 8 18080399 18080399 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:18080399C>A uc010ltd.2 + 5 1210 c.843C>A c.(841-843)CCC>CCA p.P281P NAT1_uc003wyt.2_Silent_p.P343P|NAT1_uc003wyu.2_Silent_p.P281P|NAT1_uc003wyv.2_Silent_p.P281P|NAT1_uc010ltc.2_Silent_p.P281P|NAT1_uc003wys.2_Silent_p.P343P|NAT1_uc003wyr.2_Silent_p.P281P|NAT1_uc003wyq.2_Silent_p.P281P|NAT1_uc011kyl.1_Silent_p.P281P NM_001160179 NP_001153651 P18440 ARY1_HUMAN N-acetyltransferase 1 isoform a 281 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity 0 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) AGCTTGTGCCCAAACATGGTG 0.244 NA 6 20 8.12818e-05 9.03895e-05 0.001984 1 0 PXDNL 137902 broad.mit.edu 37 8 52366085 52366085 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:52366085C>A uc003xqu.3 - 10 1344 c.1243G>T c.(1243-1245)GTA>TTA p.V415L NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 415 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATACCTTGTACAATTATGTTT 0.408 NA 17 64 4.96729e-08 6.10466e-08 0.008871 1 0 KCNB2 9312 broad.mit.edu 37 8 73850139 73850139 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:73850139G>A uc003xzb.2 + 3 3137 c.2549G>A c.(2548-2550)AGT>AAT p.S850N NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 850 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GAAGAGGGCAGTGTGGGCTCT 0.532 NA 16 61 0 0 0.003163 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763201 77763201 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:77763201G>A uc003yav.2 + 10 4296 c.3909G>A c.(3907-3909)CAG>CAA p.Q1303Q ZFHX4_uc003yau.1_Silent_p.Q1348Q|ZFHX4_uc003yaw.1_Silent_p.Q1303Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1303 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) ATGAGGAGCAGAAACCGACTA 0.408 NA HNSCC(33;0.089) 5 14 0 0 0.000602 0 0 VPS13B 157680 broad.mit.edu 37 8 100026089 100026089 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:100026089G>A uc003yiv.2 + 2 184 c.73G>A c.(73-75)GAT>AAT p.D25N VPS13B_uc003yiw.2_Missense_Mutation_p.D25N|VPS13B_uc003yit.2_Missense_Mutation_p.D25N|VPS13B_uc003yiu.1_Missense_Mutation_p.D25N|VPS13B_uc003yis.2_Missense_Mutation_p.D25N|VPS13B_uc011lgy.1_5'UTR NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 25 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAAGCCGTCGGATCTACAGCT 0.428 Colon(161;2205 2542 7338 31318) NA 37 229 0 0 0.004878 0 0 VPS13B 157680 broad.mit.edu 37 8 100523444 100523444 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:100523444G>C uc003yiv.2 + 29 4523 c.4412G>C c.(4411-4413)CGA>CCA p.R1471P VPS13B_uc003yiw.2_Missense_Mutation_p.R1446P|VPS13B_uc003yix.1_Missense_Mutation_p.R941P NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1471 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGAAATGAGCGAAGAAGTTTT 0.373 Colon(161;2205 2542 7338 31318) NA 44 79 0 0 0.00874 0 0 CSMD3 114788 broad.mit.edu 37 8 114326875 114326875 + Nonsense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:114326875G>C uc003ynu.2 - 2 485 c.326C>G c.(325-327)TCA>TGA p.S109* CSMD3_uc003ynt.2_Nonsense_Mutation_p.S69*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S109*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.S109*|CSMD3_uc003ynx.3_Nonsense_Mutation_p.S109* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 109 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TAGAGCAAATGACTGAAAAAC 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 78 0 0 0.002299 0 0 COL22A1 169044 broad.mit.edu 37 8 139737644 139737644 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:139737644G>T uc003yvd.2 - 24 2626 c.2179C>A c.(2179-2181)CCG>ACG p.P727T COL22A1_uc011ljo.1_Missense_Mutation_p.P27T NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 727 Collagen-like 5.|Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAACCTCCCGGTCCAGGGGGG 0.582 NA HNSCC(7;0.00092) 40 55 4.14194e-30 6.56222e-30 0.002852 1 0 EEF1D 1936 broad.mit.edu 37 8 144662698 144662698 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:144662698G>C uc011lki.1 - 6 859 c.590C>G c.(589-591)TCC>TGC p.S197C NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Missense_Mutation_p.S539C|EEF1D_uc003yyq.1_Missense_Mutation_p.S613C|EEF1D_uc011lkj.1_Missense_Mutation_p.S562C|EEF1D_uc003yyr.2_Missense_Mutation_p.S563C|EEF1D_uc003yyt.2_Missense_Mutation_p.S563C|EEF1D_uc011lkk.1_Missense_Mutation_p.S197C|EEF1D_uc003yys.2_Missense_Mutation_p.S197C|EEF1D_uc003yyv.2_Missense_Mutation_p.S173C|EEF1D_uc003yyu.2_Missense_Mutation_p.S197C|EEF1D_uc011lkl.1_Missense_Mutation_p.S178C NM_001130057 NP_001123529 P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta 197 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity ovary(1)|kidney(1)|skin(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CAGCAGGATGGAGGACTTGGC 0.667 NA 38 54 0 0 0.004878 0 0 SLC1A1 6505 broad.mit.edu 37 9 4573997 4573997 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:4573997G>T uc003zij.1 + 8 1094 c.858G>T c.(856-858)ATG>ATT p.M286I C9orf68_uc003zik.2_Intron NM_004170 NP_004161 P43005 EAA3_HUMAN solute carrier family 1, member 1 286 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) GCCTTTACATGGCCACAGTCC 0.453 NA 53 99 4.0181e-32 6.44366e-32 0.00361 1 0 JAK2 3717 broad.mit.edu 37 9 5054660 5054660 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:5054660C>A uc010mhm.2 + 6 825 c.712C>A c.(712-714)CAG>AAG p.Q238K JAK2_uc003ziw.2_Missense_Mutation_p.Q238K NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 238 Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) CAGATTTATTCAGCAATTCAG 0.368 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 18 124 3.51602e-12 4.8037e-12 0.008871 1 0 JAK2 3717 broad.mit.edu 37 9 5054741 5054741 + Missense_Mutation SNP T T G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:5054741T>G uc010mhm.2 + 6 906 c.793T>G c.(793-795)TTC>GTC p.F265V JAK2_uc003ziw.2_Missense_Mutation_p.F265V NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 265 FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) GCAGTCTGCCTTCTACACAGA 0.393 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 11 67 0 0 0.008291 0 0 JAK2 3717 broad.mit.edu 37 9 5054743 5054743 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:5054743C>G uc010mhm.2 + 6 908 c.795C>G c.(793-795)TTC>TTG p.F265L JAK2_uc003ziw.2_Missense_Mutation_p.F265L NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 265 FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) AGTCTGCCTTCTACACAGAGA 0.393 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 11 64 0 0 0.008291 0 0 TRPM3 80036 broad.mit.edu 37 9 73461370 73461370 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:73461370C>A uc004aid.2 - 4 844 c.600G>T c.(598-600)AAG>AAT p.K200N TRPM3_uc004ahu.2_Missense_Mutation_p.K30N|TRPM3_uc004ahv.2_Missense_Mutation_p.K30N|TRPM3_uc004ahw.2_Missense_Mutation_p.K47N|TRPM3_uc004ahx.2_Missense_Mutation_p.K47N|TRPM3_uc004ahy.2_Missense_Mutation_p.K47N|TRPM3_uc004ahz.2_Missense_Mutation_p.K47N|TRPM3_uc004aia.2_Missense_Mutation_p.K47N|TRPM3_uc004aib.2_Missense_Mutation_p.K47N|TRPM3_uc004aic.2_Missense_Mutation_p.K200N|TRPM3_uc010mor.2_Missense_Mutation_p.K200N|TRPM3_uc004aie.2_Missense_Mutation_p.K47N|TRPM3_uc004aif.2_Missense_Mutation_p.K47N|TRPM3_uc004aig.2_Missense_Mutation_p.K47N|TRPM3_uc004aii.2_Missense_Mutation_p.K202N NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 200 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CAAAGACTTGCTTGAGTTTTG 0.483 NA 51 183 7.84493e-40 1.28549e-39 0.00361 1 0 TMEM2 23670 broad.mit.edu 37 9 74312911 74312911 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:74312911C>G uc011lsa.1 - 20 4127 c.3587G>C c.(3586-3588)GGC>GCC p.G1196A TMEM2_uc011lrz.1_Missense_Mutation_p.G189A|TMEM2_uc010mos.2_Missense_Mutation_p.G1133A|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.G30A NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 1196 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CTGCCGAGTGCCACAGCCTTG 0.483 NA 14 48 0 0 0.003163 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318455 79318455 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:79318455A>T uc010mpk.2 - 9 8198 c.8074T>A c.(8074-8076)TCT>ACT p.S2692T PRUNE2_uc004akj.3_Missense_Mutation_p.S145T|PRUNE2_uc010mpl.1_Missense_Mutation_p.S145T NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2692 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ACTGGACCAGAGGCTTCCTCT 0.542 NA 8 91 0 0 0.006214 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318981 79318981 + Silent SNP T T C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:79318981T>C uc010mpk.2 - 9 7672 c.7548A>G c.(7546-7548)GAA>GAG p.E2516E PRUNE2_uc004akj.3_5'UTR|PRUNE2_uc010mpl.1_5'UTR NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2516 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GAATTGTTTTTTCTTCTTCCA 0.368 NA 43 134 0 0 0.00874 0 0 CEP78 84131 broad.mit.edu 37 9 80858483 80858483 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:80858483A>T uc004akx.2 + 5 985 c.709A>T c.(709-711)AAC>TAC p.N237Y CEP78_uc004aky.3_Missense_Mutation_p.N237Y|CEP78_uc010mpp.2_Missense_Mutation_p.N237Y|CEP78_uc011lsp.1_Missense_Mutation_p.N150Y NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b 237 CN -> GY (in Ref. 3; BAB14190). G2/M transition of mitotic cell cycle centrosome|cytosol ovary(1) 1 ACTGAATTGCAACACACTTAT 0.443 NA 16 39 0 0 0.004007 0 0 TMEM38B 55151 broad.mit.edu 37 9 108510377 108510377 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:108510377G>T uc004bcu.1 + 5 683 c.566G>T c.(565-567)GGG>GTG p.G189V TMEM38B_uc010mtn.1_Intron NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 189 Lumenal (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 ACCCTGCTGGGGTCAGTTATC 0.383 NA 27 62 1.77063e-15 2.51038e-15 0.005443 1 0 ACTL7A 10881 broad.mit.edu 37 9 111625106 111625106 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:111625106G>T uc004bdj.1 + 1 504 c.504G>T c.(502-504)TTG>TTT p.L168F NM_006687 NP_006678 Q9Y615 ACL7A_HUMAN actin-like 7A 168 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton 0 ATGCGGTCTTGGTTTCAGACC 0.522 Esophageal Squamous(177;1480 3591 17554) NA 26 47 4.4004e-07 5.27246e-07 0.00333 1 0 C9orf5 23731 broad.mit.edu 37 9 111798569 111798569 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:111798569T>A uc004bdt.3 - 16 2348 c.2316A>T c.(2314-2316)TTA>TTT p.L772F C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.L764F NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 772 integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) CCTTGCATCCTAACCCTTGTG 0.448 NA 6 65 0 0 0.001168 0 0 KIAA1958 158405 broad.mit.edu 37 9 115421717 115421717 + Missense_Mutation SNP A A T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:115421717A>T uc004bgf.1 + 4 1694 c.1519A>T c.(1519-1521)ACC>TCC p.T507S KIAA1958_uc011lwx.1_Missense_Mutation_p.T535S NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 507 skin(1) 1 CAGCTCCTCCACCAAGAAACT 0.582 NA 5 30 0 0 0.000602 0 0 ZNF618 114991 broad.mit.edu 37 9 116811305 116811305 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:116811305C>A uc004bid.2 + 15 1822 c.1723C>A c.(1723-1725)CAC>AAC p.H575N ZNF618_uc004bic.2_Missense_Mutation_p.H482N|ZNF618_uc011lxi.1_Missense_Mutation_p.H542N|ZNF618_uc011lxj.1_Missense_Mutation_p.H543N|ZNF618_uc010mvb.2_Missense_Mutation_p.H165N NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGAGGGCAACCACATCAAGAG 0.597 NA 19 40 2.94398e-08 3.63506e-08 0.007413 1 0 TLR4 7099 broad.mit.edu 37 9 120474958 120474958 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:120474958C>A uc004bjz.2 + 3 843 c.552C>A c.(550-552)AGC>AGA p.S184R TLR4_uc004bka.2_Missense_Mutation_p.S144R|TLR4_uc004bkb.2_5'UTR NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 184 Extracellular (Potential).|LRR 6. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 ACCTTTCCAGCAACAAGATTC 0.383 NA 31 85 1.7881e-09 2.28287e-09 0.008361 1 0 MORN5 254956 broad.mit.edu 37 9 124936822 124936822 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:124936822G>T uc004blw.2 + 4 417 c.355G>T c.(355-357)GGC>TGC p.G119C MORN5_uc011lyn.1_Missense_Mutation_p.G119C|MORN5_uc011lyo.1_Missense_Mutation_p.R81S NM_198469 NP_940871 Q5VZ52 MORN5_HUMAN MORN repeat containing 5 119 0 AATCCCCAAGGGCTATTACGA 0.463 NA 9 91 3.09899e-07 3.72161e-07 0.004482 1 0 OR1J4 26219 broad.mit.edu 37 9 125281709 125281709 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:125281709G>T uc011lyw.1 + 1 290 c.290G>T c.(289-291)TGT>TTT p.C97F NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TATGCAGGGTGTGTAACTCAG 0.423 NA 58 136 2.27459e-33 3.67005e-33 0.00361 1 0 PDCL 5082 broad.mit.edu 37 9 125582562 125582562 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:125582562C>T uc004bmz.1 - 4 804 c.708G>A c.(706-708)CTG>CTA p.L236L PDCL_uc004bna.2_3'UTR NM_005388 NP_005379 Q13371 PHLP_HUMAN phosducin-like 236 signal transduction|visual perception 0 TATAGATCAGCAGGGCAGGAA 0.517 NA 12 67 0 0 0.000978 0 0 CRB2 286204 broad.mit.edu 37 9 126133381 126133381 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:126133381G>T uc004bnx.1 + 8 2052 c.1960G>T c.(1960-1962)GCC>TCC p.A654S CRB2_uc004bnw.1_Missense_Mutation_p.A654S NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 654 Extracellular (Potential).|Laminin G-like 2. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CTTGGGAGGCGCCCCAAGCTC 0.617 NA 68 130 1.77791e-30 2.83389e-30 0.00361 1 0 DNM1 1759 broad.mit.edu 37 9 131008720 131008720 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:131008720G>T uc011mau.1 + 16 1806 c.1719G>T c.(1717-1719)CGG>CGT p.R573R DNM1_uc011mat.1_Silent_p.R573R|DNM1_uc004bub.1_5'UTR|DNM1_uc004buc.1_Silent_p.R40R|DNM1_uc004bud.3_RNA|uc004bue.1_5'Flank|MIR199B_hsa-mir-199b|MI0000282_5'Flank|hsa-mir-3154|MI0014182_5'Flank NM_004408 NP_004399 Q05193 DYN1_HUMAN dynamin 1 isoform 1 573 PH. receptor-mediated endocytosis microtubule GTP binding|GTPase activity ovary(2) 2 TCAAGCTGCGGGACGTGGAGA 0.562 GBM(113;146 1575 2722 28670 29921) NA 15 44 6.72482e-11 8.84314e-11 0.003163 1 0 GOLGA2 2801 broad.mit.edu 37 9 131023512 131023512 + Missense_Mutation SNP T T A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:131023512T>A uc011maw.1 - 16 1291 c.1278A>T c.(1276-1278)GAA>GAT p.E426D GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Missense_Mutation_p.E327D|uc004bun.2_5'Flank NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 426 Potential. Golgi cisterna membrane protein binding ovary(1) 1 TCATGCTACATTCCTTCTCCT 0.597 NA 14 116 0 0 0.00499 0 0 TOR1B 27348 broad.mit.edu 37 9 132571214 132571214 + Silent SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:132571214G>T uc004byk.1 + 4 732 c.672G>T c.(670-672)ACG>ACT p.T224T NM_014506 NP_055321 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) precursor 224 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding 0 Ovarian(14;0.0586) TAACTAAGACGGCTCTTGACT 0.408 NA 48 78 2.43468e-25 3.76659e-25 0.00361 1 0 ABL1 25 broad.mit.edu 37 9 133759423 133759424 + Missense_Mutation DNP CG CG AA TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:133759423_133759424CG>AA uc004bzw.2 + 11 1749_1750 c.1746_1747CG>AA c.(1744-1749)GGCGGC>GGAAGC p.G583S ABL1_uc004bzv.2_Missense_Mutation_p.G602S NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 583 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCCCGGAGGGCGGCCTGAATGA 0.535 NA T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 39 163 0 0 0.004672 0 0 NTNG2 84628 broad.mit.edu 37 9 135116431 135116431 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:135116431C>A uc004cbh.2 + 7 2133 c.1357C>A c.(1357-1359)CCC>ACC p.P453T NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 453 Laminin EGF-like 3. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) GGGCTGCTACCGTGAGTGCGC 0.527 NA 6 12 4.096e-09 5.16666e-09 0.001168 1 0 CELP 1057 broad.mit.edu 37 9 135961698 135961698 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:135961698A>G uc011mcu.1 + 4 533 c.440A>G c.(439-441)TAC>TGC p.Y147C NR_001275 Homo sapiens cDNA FLJ25862 fis, clone CBR01781. 0 ATGCCCGTCTACCCCAAATGG 0.617 NA 8 28 0 0 0.004482 0 0 VAV2 7410 broad.mit.edu 37 9 136661611 136661611 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:136661611C>G uc004ces.2 - 11 1018 c.972G>C c.(970-972)AAG>AAC p.K324N VAV2_uc004cer.2_Missense_Mutation_p.K319N NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 324 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GGTCTTGCAGCTTAAATTTTC 0.612 NA 9 31 0 0 0.000978 0 0 COL5A1 1289 broad.mit.edu 37 9 137716610 137716610 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:137716610G>A uc004cfe.2 + 62 5245 c.4863G>A c.(4861-4863)GAG>GAA p.E1621E uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1621 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGAAGCTGGAGATTGAGCAGA 0.627 NA 5 65 0 0 0.000602 0 0 OLFM1 10439 broad.mit.edu 37 9 138011928 138011928 + Silent SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr9:138011928C>T uc010nar.2 + 6 1678 c.1362C>T c.(1360-1362)TAC>TAT p.Y454Y OLFM1_uc004cfl.3_Silent_p.Y436Y|OLFM1_uc004cfn.3_Silent_p.Y205Y NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 454 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) TGCTGGACTACAACCCCAAGG 0.537 NA 25 106 0 0 0.00278 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821840 5821840 + Silent SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chrX:5821840C>A uc010ndh.2 - 5 1380 c.879G>T c.(877-879)CCG>CCT p.P293P NLGN4X_uc004crp.2_Silent_p.P313P|NLGN4X_uc004crq.2_Silent_p.P293P|NLGN4X_uc010ndi.2_Silent_p.P330P|NLGN4X_uc004crr.2_Silent_p.P293P|NLGN4X_uc010ndj.2_Silent_p.P293P NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 293 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TGTACTTGGCCGGCTGGTAGT 0.542 NA 19 28 5.3912e-06 6.2462e-06 0.006122 1 0 GLRA2 2742 broad.mit.edu 37 X 14625333 14625333 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chrX:14625333C>A uc010nep.2 + 7 990 c.658C>A c.(658-660)CAG>AAG p.Q220K GLRA2_uc010neq.2_Missense_Mutation_p.Q220K|GLRA2_uc004cwe.3_Missense_Mutation_p.Q220K|GLRA2_uc011mio.1_Missense_Mutation_p.Q131K|GLRA2_uc011mip.1_Missense_Mutation_p.Q198K NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 220 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GACCCTGCCCCAGTTTATTTT 0.388 NA 31 31 7.11191e-15 1.00291e-14 0.002836 1 0 SATL1 340562 broad.mit.edu 37 X 84362581 84362581 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chrX:84362581C>A uc011mqx.1 - 1 1394 c.1394G>T c.(1393-1395)AGT>ATT p.S465I SATL1_uc004een.2_Missense_Mutation_p.S465I NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 278 Gln-rich. N-acetyltransferase activity breast(2) 2 TTGGTTCTTACTTGATTGGCT 0.582 NA 22 52 2.89027e-11 3.83909e-11 0.002299 1 0 GABRA3 2556 broad.mit.edu 37 X 151366116 151366116 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chrX:151366116C>A uc010ntk.1 - 8 1160 c.920G>T c.(919-921)CGT>CTT p.R307L NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 307 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAAGACTGTACGGGCAGGAAC 0.463 NSCLC(142;2578 2613 10251 16743) NA 37 10 3.3946e-10 4.45277e-10 0.005524 1 0 HCFC1 3054 broad.mit.edu 37 X 153225260 153225260 + Missense_Mutation SNP C C G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chrX:153225260C>G uc004fjp.2 - 8 1965 c.1437G>C c.(1435-1437)AGG>AGC p.R479S NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 479 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACCTTGAGTCCTGGCTGCGG 0.677 NA 27 15 0 0 0.00632 0 0 FLNA 2316 broad.mit.edu 37 X 153577387 153577387 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chrX:153577387C>T uc004fkk.2 - 48 8023 c.7774G>A c.(7774-7776)GTG>ATG p.V2592M FLNA_uc004fki.2_Missense_Mutation_p.V632M|FLNA_uc011mzn.1_Missense_Mutation_p.V725M|FLNA_uc010nuu.1_Missense_Mutation_p.V2584M NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2592 Self-association site, tail.|Filamin 24. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGAACCCCCACCAGCAGCATG 0.642 NA 6 8 0 0 0.001168 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819100 50819100 + Frame_Shift_Del DEL G G - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr10:50819100delG uc001jhw.2 + 1 754 c.314delG c.(313-315)TGGfs p.W105fs CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 105 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 ACAGCTGCGTGGCCAGCGGGC 0.677 NA 24 82 --- --- --- --- NA NA NA NA NA CSDA 8531 broad.mit.edu 37 12 10854578 10854578 + Frame_Shift_Del DEL G G - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:10854578delG uc001qyt.2 - 8 1277 c.1034delC c.(1033-1035)CCTfs p.P345fs CSDA_uc001qyu.2_Frame_Shift_Del_p.P276fs NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 345 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) ATCTTGTGAAGGAGCGTTAGG 0.507 NA 11 382 --- --- --- --- NA NA NA NA NA DDX11 1663 broad.mit.edu 37 12 31242861 31242862 + In_Frame_Ins INS - - GGC TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr12:31242861_31242862insGGC uc001rjt.1 + 9 1173_1174 c.922_923insGGC c.(922-924)AGG>AGGCGG p.308_308R>RR DDX11_uc010sjw.1_3'UTR|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_In_Frame_Ins_p.308_308R>RR|DDX11_uc001rjs.1_In_Frame_Ins_p.308_308R>RR|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_In_Frame_Ins_p.308_308R>RR|DDX11_uc001rjw.1_In_Frame_Ins_p.282_282R>RR|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 308 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) AAAGAGGAGGAGGCAGGAGAAG 0.589 NA Multiple Myeloma(12;0.14) 11 18 --- --- --- --- NA NA NA NA NA KLHL1 57626 broad.mit.edu 37 13 70314545 70314545 + Frame_Shift_Del DEL C C - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr13:70314545delC uc001vip.2 - 8 2577 c.1783delG c.(1783-1785)GTAfs p.V595fs KLHL1_uc010thm.1_Frame_Shift_Del_p.V534fs NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 595 Kelch 3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AATGCTGCTACACCAACTGTG 0.333 NA 8 31 --- --- --- --- NA NA NA NA NA ARID4A 5926 broad.mit.edu 37 14 58830971 58830972 + Frame_Shift_Ins INS - - A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr14:58830971_58830972insA uc001xdp.2 + 20 2418_2419 c.2164_2165insA c.(2164-2166)GAAfs p.E722fs ARID4A_uc001xdo.2_Frame_Shift_Ins_p.E722fs|ARID4A_uc001xdq.2_Frame_Shift_Ins_p.E722fs|ARID4A_uc010apg.1_Frame_Shift_Ins_p.E400fs NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 722 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 AGATGAACTAGAAAAAAATGAA 0.277 NA 13 66 --- --- --- --- NA NA NA NA NA CYTSB 92521 broad.mit.edu 37 17 20209395 20209395 + Frame_Shift_Del DEL G G - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr17:20209395delG uc002gwq.2 + 14 3262 c.3117delG c.(3115-3117)CTGfs p.L1039fs CYTSB_uc002gws.2_Frame_Shift_Del_p.L1039fs|CYTSB_uc002gwv.2_Frame_Shift_Del_p.L958fs|CYTSB_uc010vzf.1_Frame_Shift_Del_p.L379fs|CYTSB_uc002gww.2_Frame_Shift_Del_p.L776fs NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 1039 CH. nucleus 0 AACCCAGCCTGGTACGTATCC 0.358 NA 42 49 --- --- --- --- NA NA NA NA NA ZNF14 7561 broad.mit.edu 37 19 19822589 19822592 + Frame_Shift_Del DEL TCTC TCTC - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 TCTC TCTC - - TCTC TCTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:19822589_19822592delTCTC uc002nnk.1 - 4 1652_1655 c.1498_1501delGAGA c.(1498-1503)GAGAAAfs p.E500fs NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 500_501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) TCATAGGGTTTCTCTCCAGTGTGT 0.387 NA 16 172 --- --- --- --- NA NA NA NA NA ISOC2 79763 broad.mit.edu 37 19 55967772 55967772 + Frame_Shift_Del DEL G G - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr19:55967772delG uc002qlb.2 - 2 256 c.82delC c.(82-84)CGCfs p.R28fs ISOC2_uc002qla.2_Frame_Shift_Del_p.R28fs|ISOC2_uc002qlc.2_Frame_Shift_Del_p.R28fs NM_001136201 NP_001129673 Q96AB3 ISOC2_HUMAN isochorismatase domain containing 2 isoform 1 28 protein destabilization mitochondrion|nucleus catalytic activity|protein binding ovary(1) 1 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) ATGTTGTGGCGGAACTTCTCC 0.493 NA 19 107 --- --- --- --- NA NA NA NA NA DARS 1615 broad.mit.edu 37 2 136680448 136680449 + Frame_Shift_Ins INS - - T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr2:136680448_136680449insT uc002tux.1 - 9 900_901 c.716_717insA c.(715-717)TATfs p.Y239fs DARS_uc010fnj.1_Frame_Shift_Ins_p.Y139fs NM_001349 NP_001340 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 239 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) TATTTTTAAAATATGACACAGT 0.337 NA 7 71 --- --- --- --- NA NA NA NA NA CHRNA9 55584 broad.mit.edu 37 4 40337967 40337967 + Frame_Shift_Del DEL C C - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr4:40337967delC uc003gva.1 + 2 204 c.188delC c.(187-189)ACGfs p.T63fs NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 63 Extracellular (Potential). elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(3)|skin(3)|central_nervous_system(1) 7 Nicotine(DB00184) CTGCAGATTACGCTCTCTCAG 0.388 Esophageal Squamous(115;1297 1602 22235 25158 43327) NA 23 133 --- --- --- --- NA NA NA NA NA C7orf52 375607 broad.mit.edu 37 7 100815599 100815599 + Frame_Shift_Del DEL C C - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:100815599delC uc003uxy.1 - 4 1110 c.871delG c.(871-873)GACfs p.D291fs C7orf52_uc003uxz.1_Frame_Shift_Del_p.D291fs NM_198571 NP_940973 Q8N8M0 CG052_HUMAN hypothetical protein LOC375607 291 N-acetyltransferase activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) CAAGTGCCGTCCCCTCCGTGC 0.736 NA 9 15 --- --- --- --- NA NA NA NA NA EMID2 136227 broad.mit.edu 37 7 101200670 101200671 + Frame_Shift_Ins INS - - T rs67335052 TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:101200670_101200671insT uc010lhy.1 + 14 1372_1373 c.1180_1181insT c.(1180-1182)GGAfs p.G394fs EMID2_uc003uyo.1_Frame_Shift_Ins_p.E395fs NM_133457 NP_597714 Q96A83 EMID2_HUMAN EMI domain containing 2 396 collagen ovary(1) 1 Lung NSC(181;0.215) CCTCCCCAGAGGAGGTTCTGGC 0.609 NA 7 47 --- --- --- --- NA NA NA NA NA MLL5 55904 broad.mit.edu 37 7 104753135 104753136 + Frame_Shift_Del DEL GA GA - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr7:104753135_104753136delGA uc003vcm.2 + 27 5466_5467 c.4932_4933delGA c.(4930-4935)CCGAATfs p.P1644fs MLL5_uc010ljc.2_Frame_Shift_Del_p.P1644fs|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Frame_Shift_Del_p.P378fs NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1644_1645 Pro-rich. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 TACAACAGCCGAATTCCCATCA 0.554 NA 17 105 --- --- --- --- NA NA NA NA NA CSMD3 114788 broad.mit.edu 37 8 113697722 113697722 + Frame_Shift_Del DEL G G - TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c8e60b5b-1c41-426f-90a8-b63c97124d04 ce851db4-b8ff-4b99-9474-f9e393d89791 g.chr8:113697722delG uc003ynu.2 - 15 2554 c.2395delC c.(2395-2397)CATfs p.H799fs CSMD3_uc003yns.2_Frame_Shift_Del_p.H71fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.H759fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.H695fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 799 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTAGTAAGATGGGAAGGCACC 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 112 --- --- --- --- NA NA NA NA NA