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 TTLL10 254173 broad.mit.edu 37 1 1115671 1115671 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:1115671A>T uc001acy.2 + 6 608 c.457A>T c.(457-459)ACC>TCC p.T153S uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.T153S|TTLL10_uc001acz.1_Missense_Mutation_p.T80S NM_001130045 NP_001123517 Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 153 protein modification process ATP binding|tubulin-tyrosine ligase activity large_intestine(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCCCCACAGCACCCGGCCGGG 0.697 NA 3 7 0 0 0.004672 0 0 KIAA1751 85452 broad.mit.edu 37 1 1905589 1905589 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:1905589G>T uc001aim.1 - 7 705 c.549C>A c.(547-549)TTC>TTA p.F183L KIAA1751_uc009vkz.1_Missense_Mutation_p.F183L NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 183 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CAGCTGTCCGGAAGGCCTCGA 0.667 NA 8 45 0.000157383 0.000204987 0.00308 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12918992 12918992 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:12918992C>A uc001aum.1 + 2 215 c.128C>A c.(127-129)GCC>GAC p.A43D NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 43 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTCAGGGAGGCCTTCAGCAGG 0.607 NA 31 166 1.88708e-17 3.29979e-17 0.008361 1 0 ATP13A2 23400 broad.mit.edu 37 1 17322790 17322790 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:17322790G>A uc001baa.2 - 14 1502 c.1312C>T c.(1312-1314)CTC>TTC p.L438F ATP13A2_uc001bab.2_Missense_Mutation_p.L433F|ATP13A2_uc001bac.2_Missense_Mutation_p.L433F|ATP13A2_uc009vpa.1_Missense_Mutation_p.L114F|ATP13A2_uc001bad.1_Missense_Mutation_p.L151F NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 438 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) ATGGTGCCGAGGAGAGCTGTG 0.657 NA 4 75 0 0 0.000602 0 0 ACTL8 81569 broad.mit.edu 37 1 18152740 18152740 + Missense_Mutation SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:18152740T>C uc001bat.2 + 3 1043 c.827T>C c.(826-828)ATT>ACT p.I276T NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 276 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CCACGGGCCATTGTGGAATCC 0.662 NA OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 55 0 0 0.008291 0 0 ASAP3 55616 broad.mit.edu 37 1 23759638 23759638 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:23759638G>A uc001bha.2 - 22 2379 c.2255C>T c.(2254-2256)CCC>CTC p.P752L ASAP3_uc001bgy.1_Missense_Mutation_p.P256L|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.P642L|ASAP3_uc010oea.1_Missense_Mutation_p.P743L|ASAP3_uc001bhb.2_Missense_Mutation_p.P275L NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 752 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CAAGGGCGGGGGACAGTCCTC 0.582 NA 8 134 0 0 0.004482 0 0 ZNF683 257101 broad.mit.edu 37 1 26688417 26688417 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:26688417G>T uc001bmg.1 - 7 1418 c.1300C>A c.(1300-1302)CGC>AGC p.R434S ZNF683_uc001bmh.1_Missense_Mutation_p.R414S|ZNF683_uc009vsj.1_Missense_Mutation_p.R414S NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN zinc finger protein 683 434 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) TGGGTGAAGCGACTCCGGCAG 0.662 NA 16 60 3.45872e-05 4.67814e-05 0.004007 1 0 GPN2 54707 broad.mit.edu 37 1 27215499 27215499 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:27215499G>A uc001bnd.1 - 2 811 c.529C>T c.(529-531)CTT>TTT p.L177F NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN ATP binding domain 1 family, member B 177 GTP binding 0 ATCTTGGAAAGGAGGTTGATG 0.532 NA 15 270 0 0 0.006122 0 0 MACF1 23499 broad.mit.edu 37 1 39783000 39783000 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:39783000C>T uc010ois.1 + 30 3923 c.3718C>T c.(3718-3720)CTG>TTG p.L1240L MACF1_uc001cda.1_Silent_p.L1148L|MACF1_uc001cdc.1_Silent_p.L327L|MACF1_uc009vvq.1_Silent_p.L297L|MACF1_uc001cdb.1_Silent_p.L327L NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1240 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAGCGAAATCTGGATTTGGA 0.532 NA 7 53 0 0 0.004482 0 0 BMP8A 353500 broad.mit.edu 37 1 39991331 39991331 + Missense_Mutation SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:39991331T>C uc001cdi.2 + 7 1416 c.1070T>C c.(1069-1071)ATG>ACG p.M357T PPIEL_uc001cdj.1_RNA|PPIEL_uc001cdk.2_Intron NM_181809 NP_861525 Q7Z5Y6 BMP8A_HUMAN bone morphogenetic protein 8A precursor 357 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity 0 Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTGCACCTGATGAAGCCAAAC 0.637 NA 10 39 0 0 0.008291 0 0 RLF 6018 broad.mit.edu 37 1 40706012 40706012 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:40706012C>T uc001cfc.3 + 8 5669 c.5638C>T c.(5638-5640)CAT>TAT p.H1880Y RLF_uc001cfd.3_Missense_Mutation_p.H1571Y NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1880 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AAAACAGCTTCATTATCTTCG 0.393 NA 10 84 0 0 0.006214 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049802 42049802 + Missense_Mutation SNP C C A rs147878871 TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:42049802C>A uc001cgz.3 - 4 1880 c.667G>T c.(667-669)GGC>TGC p.G223C HIVEP3_uc001cha.3_Missense_Mutation_p.G223C|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 223 C2H2-type 2.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|ZAS1. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCACAGGGGCCGCAGGGGTAG 0.602 NA 7 55 5.18039e-06 7.1912e-06 0.00308 1 0 KANK4 163782 broad.mit.edu 37 1 62703976 62703976 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:62703976C>T uc001dah.3 - 10 3338 c.2961G>A c.(2959-2961)GCG>GCA p.A987A KANK4_uc001dai.3_Silent_p.A359A|KANK4_uc001daf.3_Silent_p.A125A|KANK4_uc001dag.3_Silent_p.A343A NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 987 ANK 5. ovary(3)|skin(2)|lung(1) 6 TGCCCTGCTCCGCGTGGGCTC 0.587 NA 8 65 0 0 0.004482 0 0 NEGR1 257194 broad.mit.edu 37 1 72058514 72058514 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:72058514C>A uc001dfw.2 - 6 1026 c.926G>T c.(925-927)AGC>ATC p.S309I NEGR1_uc001dfv.2_Missense_Mutation_p.S181I|NEGR1_uc010oqs.1_Missense_Mutation_p.S265I NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 309 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) AAGAGGCAGGCTCGCATTGGT 0.483 NA 19 147 8.34094e-07 1.19724e-06 0.008871 1 0 TNNI3K 51086 broad.mit.edu 37 1 74663994 74663994 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:74663994C>T uc001dge.1 + 1 48 c.32C>T c.(31-33)TCG>TTG p.S11L LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Missense_Mutation_p.S11L|TNNI3K_uc001dgd.2_Missense_Mutation_p.S11L|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Missense_Mutation_p.S11L|FPGT_uc001dgb.1_Missense_Mutation_p.S11L|FPGT_uc010oqv.1_Missense_Mutation_p.S11L NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform a Error:Variant_position_missing_in_Q59H18_after_alignment cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 CCGGAAGTATCGCTGCGAGAA 0.642 NA 11 30 0 0 0.000978 0 0 AK5 26289 broad.mit.edu 37 1 77763335 77763335 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:77763335G>A uc001dhn.2 + 4 764 c.507G>A c.(505-507)AAG>AAA p.K169K AK5_uc001dho.2_Silent_p.K143K|AK5_uc001dhm.1_Silent_p.K145K NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 169 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 TATTAAGAAAGAAGATCCACA 0.388 NA 15 64 0 0 0.00245 0 0 AK5 26289 broad.mit.edu 37 1 77763337 77763337 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:77763337A>T uc001dhn.2 + 4 766 c.509A>T c.(508-510)AAG>ATG p.K170M AK5_uc001dho.2_Missense_Mutation_p.K144M|AK5_uc001dhm.1_Missense_Mutation_p.K146M NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 170 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 TTAAGAAAGAAGATCCACAGT 0.388 NA 17 67 0 0 0.004007 0 0 IFI44 10561 broad.mit.edu 37 1 79128523 79128523 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:79128523T>A uc001dip.3 + 8 1372 c.1248T>A c.(1246-1248)GCT>GCA p.A416A NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 416 response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 TGCTATGGGCTGCAGATGACT 0.458 NA 17 110 0 0 0.007413 0 0 WDR63 126820 broad.mit.edu 37 1 85595688 85595688 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:85595688C>A uc001dkt.2 + 22 2616 c.2425C>A c.(2425-2427)CAC>AAC p.H809N WDR63_uc009wcl.2_Missense_Mutation_p.H770N NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 809 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) AAGTGTCAACCACTATTTTGA 0.418 NA 38 247 9.85521e-28 1.80299e-27 0.00623 1 0 GBP5 115362 broad.mit.edu 37 1 89735201 89735201 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:89735201A>G uc001dnc.2 - 3 575 c.38T>C c.(37-39)CTC>CCC p.L13P GBP5_uc001dnd.2_Missense_Mutation_p.L13P|GBP5_uc001dne.1_Missense_Mutation_p.L13P NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 13 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) GTTCTCGATGAGGCACATGGG 0.478 NA 14 201 0 0 0.003163 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94668512 94668512 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:94668512C>T uc001dqj.3 - 10 1285 c.916G>A c.(916-918)GAA>AAA p.E306K ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.E306K NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 306 Potential. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCTTTTATTTCTTTCCTTTGT 0.299 NA 12 131 0 0 0.001855 0 0 RWDD3 25950 broad.mit.edu 37 1 95712169 95712169 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:95712169G>A uc009wdu.2 + 3 721 c.645G>A c.(643-645)ATG>ATA p.M215I RWDD3_uc001drf.3_Intron|RWDD3_uc001drh.3_Missense_Mutation_p.D185N|RWDD3_uc009wdv.2_RNA|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.D200N NM_015485 NP_056300 Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 isoform a 215 cytoplasm|nucleus protein binding ovary(1) 1 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) AAGAGAAAATGATTAGTGTAC 0.313 NA 7 70 0 0 0.001984 0 0 SLC16A1 6566 broad.mit.edu 37 1 113456568 113456568 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:113456568G>C uc001ecx.2 - 5 2280 c.1448C>G c.(1447-1449)TCT>TGT p.S483C SLC16A1_uc001ecy.2_Missense_Mutation_p.S483C NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 483 Cytoplasmic (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CTGGTCCGGAGATTCTGCTGC 0.468 NA 36 205 0 0 0.005524 0 0 NOTCH2 4853 broad.mit.edu 37 1 120510124 120510124 + Nonsense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:120510124G>C uc001eik.2 - 8 1641 c.1385C>G c.(1384-1386)TCA>TGA p.S462* NOTCH2_uc001eil.2_Nonsense_Mutation_p.S462*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.S379* NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 462 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GCAGGGGTCTGAATGGCACTC 0.507 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 7 140 0 0 0.00308 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058337 152058337 + Silent SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:152058337C>G uc001ezo.1 - 3 1886 c.1821G>C c.(1819-1821)CTG>CTC p.L607L NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 607 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CCACTGCCTCCAGAGCTCTGT 0.537 NA 36 136 0 0 0.002836 0 0 HRNR 388697 broad.mit.edu 37 1 152192118 152192118 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:152192118C>T uc001ezt.1 - 3 2063 c.1987G>A c.(1987-1989)GGC>AGC p.G663S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 663 6. 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) CCATGTCGGCCGCGACTAGGA 0.592 NA 57 258 0 0 0.00361 0 0 FLG2 388698 broad.mit.edu 37 1 152326042 152326042 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:152326042C>G uc001ezw.3 - 3 4293 c.4220G>C c.(4219-4221)GGA>GCA p.G1407A uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1407 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGGACTGTCCATGACCAGA 0.527 NA 33 402 0 0 0.001786 0 0 LCE3B 353143 broad.mit.edu 37 1 152586476 152586476 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:152586476C>A uc010pds.1 + 1 190 c.190C>A c.(190-192)CAC>AAC p.H64N NM_178433 NP_848520 Q5TA77 LCE3B_HUMAN late cornified envelope 3B 64 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367) CTGCAGGTCCCACCGATGCCG 0.662 NA 54 70 5.13769e-22 9.21291e-22 0.00361 1 0 TPM3 7170 broad.mit.edu 37 1 154141852 154141852 + Silent SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:154141852G>C uc001fec.1 - 9 898 c.783C>G c.(781-783)CTC>CTG p.L261L TPM3_uc001fdx.1_Intron|TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Intron|TPM3_uc001fdz.1_Intron|TPM3_uc001fea.1_Intron|TPM3_uc001feb.1_Intron|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Silent_p.L224L NM_152263 NP_689476 P06753 TPM3_HUMAN tropomyosin 3 isoform 1 260 By similarity. cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/ALK(33) haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1) 34 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) TCTGGGCATAGAGCTCATCTG 0.493 NA T NTRK1|ALK papillary thyroid|ALCL 3 51 0 0 0.000248 0 0 FAM189B 10712 broad.mit.edu 37 1 155218083 155218083 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:155218083C>G uc001fjm.2 - 11 2197 c.1591G>C c.(1591-1593)GAA>CAA p.E531Q RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.E333Q|FAM189B_uc001fjn.2_Missense_Mutation_p.E435Q|FAM189B_uc001fjo.2_Missense_Mutation_p.E513Q|FAM189B_uc001fjp.2_RNA NM_006589 NP_006580 P81408 F189B_HUMAN hypothetical protein LOC10712 isoform a 531 integral to membrane WW domain binding ovary(1)|breast(1) 2 AGGCAGGCTTCAGAGCAGAGC 0.617 NA 5 63 0 0 0.001984 0 0 FCGR2B 2213 broad.mit.edu 37 1 161647156 161647156 + Splice_Site SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:161647156G>T uc001gaz.1 + 7 947 c.855_splice c.e7+1 p.G285_splice FCGR2B_uc001gay.1_Splice_Site_p.G284_splice|FCGR2B_uc001gba.1_Splice_Site_p.G265_splice|FCGR2B_uc001gbb.1_Splice_Site_p.G266_splice|FCGR2B_uc009wun.1_Splice_Site_p.G278_splice NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CAAAGTTGGGGTGAGTGATCC 0.537 NA T ? ALL 22 90 2.32416e-17 4.05287e-17 0.002299 1 0 OLFML2B 25903 broad.mit.edu 37 1 161953507 161953507 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:161953507G>A uc001gbu.2 - 8 2635 c.2211C>T c.(2209-2211)GAC>GAT p.D737D OLFML2B_uc001gbt.2_Silent_p.D220D|OLFML2B_uc010pkq.1_Silent_p.D738D NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 737 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGTGGCCATTGTCCCAGGCAT 0.507 NA 53 129 0 0 0.00361 0 0 KIFAP3 22920 broad.mit.edu 37 1 170015946 170015946 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:170015946C>T uc001ggv.2 - 3 497 c.226G>A c.(226-228)GAA>AAA p.E76K KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Missense_Mutation_p.E32K NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 76 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTACATTCTTCAACCACCTTC 0.373 NA 16 99 0 0 0.003163 0 0 C1orf129 80133 broad.mit.edu 37 1 170959103 170959103 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:170959103G>T uc001ghg.2 + 11 1117 c.987G>T c.(985-987)AAG>AAT p.K329N C1orf129_uc009wvy.2_Missense_Mutation_p.K136N|C1orf129_uc010plz.1_Missense_Mutation_p.K329N NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 329 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACCCAAGAAGGTCATCTTTC 0.468 NA 18 69 3.41278e-10 5.41426e-10 0.00499 1 0 TNR 7143 broad.mit.edu 37 1 175375383 175375383 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:175375383G>T uc001gkp.1 - 1 549 c.468C>A c.(466-468)AAC>AAA p.N156K TNR_uc009wwu.1_Missense_Mutation_p.N156K|TNR_uc010pmz.1_Missense_Mutation_p.N156K NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 156 Cys-rich.|Potential. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AGCAGTTGGCGTTGCACTGGT 0.627 NA 17 81 0.000958276 0.00122296 0.007413 1 0 CEP350 9857 broad.mit.edu 37 1 179989900 179989900 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:179989900G>T uc001gnt.2 + 12 3374 c.2991G>T c.(2989-2991)GAG>GAT p.E997D CEP350_uc009wxl.2_Missense_Mutation_p.E996D|CEP350_uc001gnu.2_Missense_Mutation_p.E831D NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 997 centrosome|nucleus|spindle ovary(4) 4 CTGAAGAAGAGGGAGACCAGG 0.418 NA 26 160 1.55469e-16 2.65979e-16 0.00333 1 0 FAM5C 339479 broad.mit.edu 37 1 190067362 190067362 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:190067362T>A uc001gse.1 - 8 2319 c.2087A>T c.(2086-2088)CAG>CTG p.Q696L FAM5C_uc010pot.1_Missense_Mutation_p.Q594L NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 696 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGCTGAATCCTGGGATCCCTG 0.463 NA 45 99 0 0 0.002222 0 0 CFH 3075 broad.mit.edu 37 1 196696041 196696041 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:196696041G>T uc001gtj.3 + 14 2447 c.2207G>T c.(2206-2208)GGA>GTA p.G736V NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 736 Sushi 12. complement activation, alternative pathway extracellular space p.G736G(1) skin(4)|ovary(1)|breast(1) 6 TGTATTCATGGAGTATGGACC 0.353 NA 20 87 0.000175454 0.000228054 0.001523 1 0 F13B 2165 broad.mit.edu 37 1 197031046 197031046 + Silent SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:197031046A>G uc001gtt.1 - 3 363 c.319T>C c.(319-321)TTG>CTG p.L107L NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 107 Sushi 2. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ATTTTATACAATAACTTTACA 0.368 NA 10 62 0 0 0.008291 0 0 CRB1 23418 broad.mit.edu 37 1 197326027 197326027 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:197326027G>A uc001gtz.2 + 5 1190 c.1055G>A c.(1054-1056)GGG>GAG p.G352E CRB1_uc010poz.1_Missense_Mutation_p.G283E|CRB1_uc001gty.1_Missense_Mutation_p.G352E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G240E|CRB1_uc010ppb.1_Missense_Mutation_p.G352E|CRB1_uc010ppc.1_RNA NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 352 Extracellular (Potential).|EGF-like 9. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CAGTCCAATGGGGAATGTGTG 0.473 NA 6 87 0 0 0.001168 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200827089 200827089 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:200827089A>G uc001gvl.2 + 18 4642 c.4372A>G c.(4372-4374)ACT>GCT p.T1458A CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.T1447A|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.T1431A NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1458 CKK. cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 ACCCGCTAAAACTTTATCTGC 0.373 NA 64 166 0 0 0.00361 0 0 ATP2B4 493 broad.mit.edu 37 1 203652479 203652479 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:203652479G>T uc001gzw.2 + 2 1030 c.146G>T c.(145-147)GGA>GTA p.G49V ATP2B4_uc001gzv.2_Missense_Mutation_p.G49V|ATP2B4_uc009xaq.2_Missense_Mutation_p.G49V NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 49 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GTCCACTATGGAGGTGTACAG 0.512 NA 18 132 2.48551e-13 4.1079e-13 0.00499 1 0 FAIM3 9214 broad.mit.edu 37 1 207087253 207087253 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:207087253C>T uc001hey.2 - 2 403 c.224G>A c.(223-225)CGA>CAA p.R75Q FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Silent_p.P18P|FAIM3_uc010psb.1_Missense_Mutation_p.R75Q NM_005449 NP_005440 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 isoform a 75 Ig-like.|Extracellular (Potential). anti-apoptosis|cellular defense response integral to membrane central_nervous_system(1) 1 Breast(84;0.201) CAGAGTAACTCGGCCCTTGTA 0.517 NA 15 223 0 0 0.004007 0 0 IARS2 55699 broad.mit.edu 37 1 220287726 220287726 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:220287726G>C uc001hmc.2 + 12 1654 c.1550G>C c.(1549-1551)CGG>CCG p.R517P NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 517 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) ATGGACAGGCGGCCATATTGG 0.383 NA 44 111 0 0 0.002522 0 0 C1orf55 163859 broad.mit.edu 37 1 226187006 226187006 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:226187006T>A uc001hpu.3 - 1 61 c.8A>T c.(7-9)GAG>GTG p.E3V C1orf55_uc001hpv.2_Missense_Mutation_p.E3V NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 3 lung(1) 1 Breast(184;0.197) CGCCGCGGCCTCCGCCATGTC 0.677 NA 12 44 0 0 0.001368 0 0 URB2 9816 broad.mit.edu 37 1 229771885 229771885 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:229771885C>G uc001hts.1 + 4 1661 c.1525C>G c.(1525-1527)CAG>GAG p.Q509E URB2_uc009xfd.1_Missense_Mutation_p.Q509E NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 509 nucleolus central_nervous_system(2)|ovary(1) 3 GCCTCCAAGTCAGATCCTGGA 0.582 NA 5 171 0 0 0.000602 0 0 COG2 22796 broad.mit.edu 37 1 230814766 230814766 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:230814766G>A uc001htw.2 + 10 1285 c.1134G>A c.(1132-1134)AAG>AAA p.K378K COG2_uc001htx.2_Silent_p.K378K|COG2_uc010pwc.1_Silent_p.K251K NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 378 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GCTTCAATAAGAAGTGGAACT 0.443 NA 4 71 0 0 0.000248 0 0 RYR2 6262 broad.mit.edu 37 1 237551419 237551419 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:237551419C>G uc001hyl.1 + 10 829 c.709C>G c.(709-711)CTG>GTG p.L237V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 237 Cytoplasmic (By similarity).|MIR 3. 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) CCTCAGGTTGCTGCATGGACA 0.408 NA 6 34 0 0 0.00308 0 0 RYR2 6262 broad.mit.edu 37 1 237806644 237806644 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:237806644G>T uc001hyl.1 + 48 7359 c.7239G>T c.(7237-7239)AAG>AAT p.K2413N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2413 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) ATGCCGGGAAGGGAGAAGCCA 0.413 NA 51 156 1.39843e-22 2.52195e-22 0.00361 1 0 OR6F1 343169 broad.mit.edu 37 1 247875386 247875386 + Silent SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:247875386G>T uc001idj.1 - 1 672 c.672C>A c.(670-672)ACC>ACA p.T224T NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 224 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;0.0168) TCCTGAGGATGGTGCTGATGA 0.527 NA 29 106 9.39395e-14 1.57311e-13 0.00632 1 0 OR2M1P 388762 broad.mit.edu 37 1 248285818 248285818 + Missense_Mutation SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:248285818T>G uc001idy.1 + 1 381 c.381T>G c.(379-381)TTT>TTG p.F127L NR_002141 RecName: Full=Olfactory receptor 2M5; 0 CATCAATATTTGAAAAGGTTA 0.408 NA 52 271 0 0 0.00361 0 0 OR2M3 127062 broad.mit.edu 37 1 248366686 248366686 + Nonsense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:248366686C>A uc010pzg.1 + 1 317 c.317C>A c.(316-318)TCA>TAA p.S106* NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTCTATACATCACTGCTTGGC 0.473 NA 65 506 1.31726e-23 2.38919e-23 0.00361 1 0 OR2T4 127074 broad.mit.edu 37 1 248524995 248524995 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:248524995A>G uc001ieh.1 + 1 113 c.113A>G c.(112-114)CAC>CGC p.H38R NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 38 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGGCCAACCACACTGGATGG 0.488 NA 18 122 0 0 0.007413 0 0 OR2G6 391211 broad.mit.edu 37 1 248685555 248685555 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:248685555G>T uc001ien.1 + 1 608 c.608G>T c.(607-609)AGT>ATT p.S203I NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTGTGGCCAGTGTAGTCTTT 0.473 NA 35 86 1.99505e-19 3.55737e-19 0.002445 1 0 TAF3 83860 broad.mit.edu 37 10 8019213 8019213 + Nonsense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:8019213G>T uc010qbd.1 + 4 2242 c.2242G>T c.(2242-2244)GAA>TAA p.E748* NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 748 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 GATAAAAGTGGAACCAGTCGC 0.448 NA 13 54 1.36491e-13 2.27965e-13 0.001855 1 0 ITGA8 8516 broad.mit.edu 37 10 15646286 15646286 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:15646286C>A uc001ioc.1 - 20 2039 c.2039G>T c.(2038-2040)GGG>GTG p.G680V ITGA8_uc010qcb.1_Missense_Mutation_p.G665V NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 680 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TGCTCCTTCCCCTTCATTTCT 0.363 NA 14 67 1.5842e-08 2.42808e-08 0.001855 1 0 PTF1A 256297 broad.mit.edu 37 10 23482676 23482676 + Silent SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:23482676A>G uc001irp.2 + 2 828 c.828A>G c.(826-828)CTA>CTG p.L276L NM_178161 NP_835455 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 276 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex pancreas(1)|skin(1) 2 TCCCTCCCCTAGCAGGACACT 0.507 NA 49 218 0 0 0.00361 0 0 GPR158 57512 broad.mit.edu 37 10 25887611 25887611 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:25887611T>A uc001isj.2 + 11 3116 c.3056T>A c.(3055-3057)GTG>GAG p.V1019E GPR158_uc001isk.2_Missense_Mutation_p.V394E NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1019 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CCTGGTCCTGTGCCTTCAGAA 0.473 NA 7 71 0 0 0.001984 0 0 RBP3 5949 broad.mit.edu 37 10 48389623 48389623 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:48389623C>T uc001jez.2 - 1 1369 c.1255G>A c.(1255-1257)GAG>AAG p.E419K NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 419 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CGGATAGCCTCGTCCTCAGGC 0.637 NA 5 43 0 0 0.001168 0 0 HERC4 26091 broad.mit.edu 37 10 69714383 69714383 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:69714383T>A uc001jng.3 - 20 2641 c.2330A>T c.(2329-2331)GAA>GTA p.E777V HERC4_uc009xpq.2_Missense_Mutation_p.E310V|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.E769V|HERC4_uc009xpr.2_Missense_Mutation_p.E777V|HERC4_uc001jni.3_Missense_Mutation_p.E513V NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 777 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 CCTGGAATCTTCATAATACCT 0.378 NA 13 105 0 0 0.001855 0 0 RUFY2 55680 broad.mit.edu 37 10 70154089 70154089 + Nonsense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:70154089G>C uc001job.2 - 5 950 c.623C>G c.(622-624)TCA>TGA p.S208* RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Nonsense_Mutation_p.S139*|RUFY2_uc010qiw.1_Nonsense_Mutation_p.S115*|RUFY2_uc001jod.1_Nonsense_Mutation_p.S173*|RUFY2_uc009xpv.1_Nonsense_Mutation_p.S56*|RUFY2_uc001joe.1_Nonsense_Mutation_p.S173* NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 222 nucleus metal ion binding ovary(1) 1 ACTTACTTGTGAGTCTAAATC 0.433 NA 8 73 0 0 0.006214 0 0 PIPSL 266971 broad.mit.edu 37 10 95720197 95720197 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:95720197T>A uc009xuj.2 - 1 1476 c.957A>T c.(955-957)CGA>CGT p.R319R NR_002319 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 TGCCACCCCGTCGAGCCTCTC 0.517 NA 7 66 0 0 0.00308 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98411383 98411383 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:98411383C>T uc001kmq.2 - 5 866 c.738G>A c.(736-738)CTG>CTA p.L246L PIK3AP1_uc001kmp.2_Silent_p.L68L NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 246 DBB. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) AATATATCTTCAGAGAAACGT 0.403 NA 4 34 0 0 0.000248 0 0 PPRC1 23082 broad.mit.edu 37 10 103898672 103898672 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:103898672G>A uc001kum.2 + 4 565 c.526G>A c.(526-528)GAA>AAA p.E176K PPRC1_uc001kun.2_Missense_Mutation_p.E56K|PPRC1_uc010qqj.1_Missense_Mutation_p.E176K|PPRC1_uc009xxa.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GACACCCCCAGAACGTGACCT 0.542 NA 7 59 0 0 0.00308 0 0 SORCS3 22986 broad.mit.edu 37 10 106960956 106960956 + Missense_Mutation SNP C C A rs145883987 TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:106960956C>A uc001kyi.1 + 16 2433 c.2206C>A c.(2206-2208)CAC>AAC p.H736N SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 736 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGGCCGAGACCACTCAGGATC 0.488 NSCLC(116;1497 1690 7108 13108 14106) NA 9 103 7.48243e-07 1.08633e-06 0.006214 1 0 SMNDC1 10285 broad.mit.edu 37 10 112053973 112053973 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:112053973C>G uc001kzc.3 - 6 854 c.652G>C c.(652-654)GAT>CAT p.D218H SMNDC1_uc001kzb.2_Missense_Mutation_p.D139H NM_005871 NP_005862 O75940 SPF30_HUMAN survival motor neuron domain containing 1 218 apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding|RNA binding skin(1) 1 Breast(234;0.174) Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119) ATAGGTTTATCAGCAATTCCA 0.388 NA 16 100 0 0 0.004007 0 0 PRLHR 2834 broad.mit.edu 37 10 120353949 120353949 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:120353949G>T uc001ldp.1 - 2 947 c.808C>A c.(808-810)CGC>AGC p.R270S NM_004248 NP_004239 P49683 PRLHR_HUMAN G protein-coupled receptor 10 270 Cytoplasmic (Potential). female pregnancy integral to plasma membrane neuropeptide Y receptor activity 0 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) CGCCGAGCGCGGTCCCAGTCG 0.677 NA 7 28 8.12818e-05 0.000106968 0.001984 1 0 C10orf119 79892 broad.mit.edu 37 10 121595096 121595096 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:121595096G>C uc001ler.2 - 14 1967 c.1669C>G c.(1669-1671)CTT>GTT p.L557V C10orf119_uc001leq.1_Missense_Mutation_p.L382V|C10orf119_uc001les.1_Missense_Mutation_p.L382V NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN chromosome 10 open reading frame 119 557 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding 0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.0044) AATCTCAAAAGAGTTAGATAA 0.348 NA 10 77 0 0 0.006214 0 0 PRAP1 118471 broad.mit.edu 37 10 135165834 135165834 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr10:135165834C>G uc001lmp.2 + 5 424 c.346C>G c.(346-348)CCG>GCG p.P116A PRAP1_uc001lmr.2_Missense_Mutation_p.P107A|PRAP1_uc001lmq.1_Missense_Mutation_p.P88A NM_145202 NP_660203 Q96NZ9 PRAP1_HUMAN proline-rich acidic protein 1 isoform 1 116 extracellular region 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06) GTACCACCCTCCGCCTGAGGA 0.632 NA 8 86 0 0 0.006214 0 0 OR2D3 120775 broad.mit.edu 37 11 6942680 6942680 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:6942680A>G uc010rav.1 + 1 448 c.448A>G c.(448-450)ACC>GCC p.T150A NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 150 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTACTACTCTACCATCATGAC 0.512 NA 29 114 0 0 0.00632 0 0 OR10A6 390093 broad.mit.edu 37 11 7949730 7949730 + Silent SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:7949730T>C uc010rbh.1 - 1 480 c.480A>G c.(478-480)ACA>ACG p.T160T NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATACCCATGATGTTTGAACAG 0.348 NA 6 50 0 0 0.001984 0 0 TUB 7275 broad.mit.edu 37 11 8060490 8060490 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:8060490G>A uc001mfy.2 + 1 311 c.70G>A c.(70-72)GGA>AGA p.G24R TUB_uc010rbk.1_Intron NM_003320 NP_003311 P50607 TUB_HUMAN tubby isoform a Error:Variant_position_missing_in_P50607_after_alignment phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane ovary(1) 1 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) TTTGTTCCCAGGAGGCACTCC 0.552 NA 13 97 0 0 0.001855 0 0 CTR9 9646 broad.mit.edu 37 11 10781721 10781721 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:10781721G>A uc001mja.2 + 6 743 c.594G>A c.(592-594)GCG>GCA p.A198A NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 198 TPR 4. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) ATTTTATAGCGGAAGTTCGTT 0.368 NA 5 65 0 0 0.000602 0 0 MUC15 143662 broad.mit.edu 37 11 26582728 26582728 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:26582728C>G uc001mqx.2 - 4 1155 c.889G>C c.(889-891)GGG>CGG p.G297R ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.G324R|MUC15_uc001mqy.2_Missense_Mutation_p.G274R NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 297 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 CTAGAATTCCCAAAACTCACA 0.378 NA 9 36 0 0 0.004482 0 0 RAG1 5896 broad.mit.edu 37 11 36596398 36596398 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:36596398C>A uc001mwu.3 + 2 1668 c.1544C>A c.(1543-1545)CCA>CAA p.P515Q RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 515 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GTACTTCTGCCAGGCTACCAC 0.493 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 15 104 2.48551e-13 4.1079e-13 0.00499 1 0 CKAP5 9793 broad.mit.edu 37 11 46786761 46786761 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:46786761C>G uc001ndi.1 - 28 3567 c.3457G>C c.(3457-3459)GAT>CAT p.D1153H CKAP5_uc009ylg.1_Missense_Mutation_p.D1039H|CKAP5_uc001ndj.1_Missense_Mutation_p.D1153H|CKAP5_uc001ndh.1_Missense_Mutation_p.D82H|SNORD67_uc001ndk.2_5'Flank NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1153 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TTGTCTTCATCCTCCTTTAAG 0.398 Ovarian(4;85 273 2202 4844 13323) NA 6 146 0 0 0.001984 0 0 OR5I1 10798 broad.mit.edu 37 11 55703541 55703541 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:55703541T>A uc010ris.1 - 1 336 c.336A>T c.(334-336)ACA>ACT p.T112T NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGAAGGATTCTGTATCTGCAA 0.438 NA 6 55 0 0 0.001168 0 0 LPXN 9404 broad.mit.edu 37 11 58318700 58318700 + Silent SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:58318700T>G uc001nmw.2 - 5 469 c.324A>C c.(322-324)GCA>GCC p.A108A LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Silent_p.A113A|LPXN_uc010rkk.1_Silent_p.A88A|LPXN_uc010rkl.1_RNA NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 108 cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CTGCTCTCACTGCAACCTGGC 0.483 NA 4 23 0 0 0.000248 0 0 MS4A5 64232 broad.mit.edu 37 11 60201330 60201330 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:60201330C>A uc001npo.2 + 4 518 c.432C>A c.(430-432)AAC>AAA p.N144K NM_023945 NP_076434 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 144 Extracellular (Potential). integral to membrane receptor activity large_intestine(1)|ovary(1) 2 TAGATCAAAACTACATTTGTG 0.368 NA 9 100 1.12685e-05 1.54393e-05 0.004482 1 0 CD5 921 broad.mit.edu 37 11 60885907 60885907 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:60885907C>T uc009ynk.2 + 3 458 c.355C>T c.(355-357)CAC>TAC p.H119Y NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 119 Extracellular (Potential).|SRCR 1. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CAACTGCAGCCACAGCAGAAA 0.602 NA 6 136 0 0 0.001168 0 0 C11orf48 79081 broad.mit.edu 37 11 62435066 62435066 + Nonsense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:62435066G>C uc001nue.2 - 4 902 c.467C>G c.(466-468)TCA>TGA p.S156* C11orf48_uc001nuf.2_Nonsense_Mutation_p.S156*|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_Nonsense_Mutation_p.S156* NM_024099 NP_077004 Q9BQE6 CK048_HUMAN hypothetical protein LOC79081 182 0 GGAGCCTGTTGAGTCCCAGAA 0.507 NA 36 218 0 0 0.00623 0 0 SLC22A8 9376 broad.mit.edu 37 11 62782143 62782143 + Silent SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:62782143C>G uc001nwo.2 - 2 424 c.288G>C c.(286-288)CTG>CTC p.L96L SLC22A8_uc001nwp.2_Silent_p.L96L|SLC22A8_uc009yom.2_Intron|SLC22A8_uc010rmm.1_Silent_p.L5L|SLC22A8_uc009yon.2_Silent_p.L96L NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 96 Extracellular (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 CCCAGCCATCCAGGCATGGCT 0.592 NA 23 138 0 0 0.002299 0 0 EFEMP2 30008 broad.mit.edu 37 11 65637376 65637376 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:65637376G>A uc001ofy.3 - 7 873 c.679C>T c.(679-681)CGC>TGC p.R227C EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.R227C NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 227 EGF-like 4; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) TGGTGGCAGCGACACAGGAAG 0.607 NA 17 97 0 0 0.00499 0 0 AIP 9049 broad.mit.edu 37 11 67250704 67250704 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:67250704C>T uc001olv.2 + 1 200 c.75C>T c.(73-75)CTC>CTT p.L25L NM_003977 NP_003968 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 25 protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding 0 GAGGAGAGCTCCCGGACTTTC 0.617 NA Familial_Isolated_Pituitary_Adenoma_ 5 68 0 0 0.000602 0 0 TMEM126B 55863 broad.mit.edu 37 11 85345207 85345207 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:85345207G>C uc001pao.2 + 4 443 c.191G>C c.(190-192)AGA>ACA p.R64T TMEM126B_uc001pan.1_Missense_Mutation_p.R64T|TMEM126B_uc001pap.2_Missense_Mutation_p.R64T|TMEM126B_uc001paq.1_Missense_Mutation_p.R64T NM_018480 NP_060950 Q8IUX1 T126B_HUMAN transmembrane protein 126B 94 integral to membrane 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TTCCTGTTCAGACGCTGCTTC 0.343 NA 8 102 0 0 0.004482 0 0 CCDC83 220047 broad.mit.edu 37 11 85593661 85593661 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:85593661G>A uc001pbh.1 + 4 798 c.286G>A c.(286-288)GAA>AAA p.E96K CCDC83_uc001pbg.1_Missense_Mutation_p.E96K|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.E53K NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 96 Potential. skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AGAGGATGTTGAAGAAGCGAT 0.403 NA 17 89 0 0 0.004007 0 0 MMP12 4321 broad.mit.edu 37 11 102742618 102742618 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:102742618G>T uc001phk.2 - 3 460 c.415C>A c.(415-417)CAA>AAA p.Q139K NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 139 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CTCCATACTTGGAAAGCTTTC 0.408 NA 11 48 7.03913e-09 1.08677e-08 0.001368 1 0 MMP13 4322 broad.mit.edu 37 11 102824901 102824901 + Nonsense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:102824901C>T uc001phl.2 - 4 649 c.621G>A c.(619-621)TGG>TGA p.W207* NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 207 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AACTACTTGTCCAGGTTTCAT 0.388 NA 10 39 0 0 0.008291 0 0 RAB39 54734 broad.mit.edu 37 11 107832852 107832852 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:107832852A>T uc001pjt.2 + 2 426 c.408A>T c.(406-408)CAA>CAT p.Q136H NM_017516 NP_059986 Q14964 RB39A_HUMAN RAB39, member RAS oncogene family 136 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179) CACAACGTCAAGTTACAAGGG 0.378 NA 17 52 0 0 0.00499 0 0 BCL9L 283149 broad.mit.edu 37 11 118779239 118779239 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:118779239C>A uc001pug.2 - 2 1117 c.152G>T c.(151-153)GGG>GTG p.G51V BCL9L_uc009zal.2_Missense_Mutation_p.G46V NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 51 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CCCGCCATTCCCTGTCTTGCC 0.642 NA 25 166 2.14196e-07 3.19025e-07 0.007291 1 0 MCAM 4162 broad.mit.edu 37 11 119183624 119183624 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:119183624T>A uc001pwf.2 - 6 624 c.595A>T c.(595-597)AGT>TGT p.S199C MCAM_uc001pwg.1_5'Flank NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 199 Ig-like V-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) TACAAACCACTCGACTCCACA 0.567 NA 15 71 0 0 0.004007 0 0 SRPR 6734 broad.mit.edu 37 11 126134327 126134327 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:126134327C>T uc001qdh.2 - 12 1684 c.1633G>A c.(1633-1635)GAT>AAT p.D545N SRPR_uc010sbm.1_Missense_Mutation_p.D517N NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 545 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) AGCACCAAATCAGGTGTATTG 0.542 NA 9 60 0 0 0.006214 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1965188 1965188 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:1965188T>A uc001qjp.2 - 22 2373 c.2142A>T c.(2140-2142)CCA>CCT p.P714P CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.P578P|CACNA2D4_uc009zdr.1_5'Flank NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 714 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) ACTCCAGGTCTGGGTCCTTCC 0.592 Colon(2;101 179 21030 23310 28141) NA 10 43 0 0 0.008291 0 0 ACRBP 84519 broad.mit.edu 37 12 6749349 6749349 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:6749349G>A uc001qpu.1 - 8 1350 c.1302C>T c.(1300-1302)TAC>TAT p.Y434Y LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.Y401Y NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 434 acrosomal vesicle|extracellular region central_nervous_system(1) 1 GGAGCCCACCGTACAAATCCA 0.607 NA 7 54 0 0 0.004482 0 0 LAG3 3902 broad.mit.edu 37 12 6884556 6884556 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:6884556C>A uc001qqt.3 + 5 1248 c.899C>A c.(898-900)CCT>CAT p.P300H LAG3_uc001qqs.2_Missense_Mutation_p.P300H|LAG3_uc001qqu.2_Missense_Mutation_p.P130H NM_002286 NP_002277 P18627 LAG3_HUMAN lymphocyte-activation protein 3 precursor 300 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane antigen binding|MHC class II protein binding 0 AAGTGGACTCCTCCTGGGGGA 0.642 NA 17 81 6.94344e-10 1.09606e-09 0.006122 1 0 C3AR1 719 broad.mit.edu 37 12 8212740 8212740 + Silent SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:8212740G>T uc001qtv.1 - 2 134 c.42C>A c.(40-42)CTC>CTA p.L14L NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 14 Extracellular (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) ATGGCTGTGAGAGTAGGTCAG 0.428 NA 12 115 1.5842e-08 2.42808e-08 0.001855 1 0 TAS2R19 259294 broad.mit.edu 37 12 11174720 11174720 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:11174720C>T uc010shj.1 - 1 451 c.451G>A c.(451-453)GAG>AAG p.E151K PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176888 NP_795369 P59542 T2R19_HUMAN taste receptor, type 2, member 19 151 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 CACACTCTCTCATCCATGGTT 0.388 NA 13 115 0 0 0.001368 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906333 13906333 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:13906333C>G uc001rbt.2 - 3 1107 c.928G>C c.(928-930)GAG>CAG p.E310Q NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 310 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGCTGTGCTCAGACAGCATG 0.483 NA 11 92 0 0 0.000978 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 14 0.004672 0.00574248 0.004672 1 0 ALG10 84920 broad.mit.edu 37 12 34175705 34175705 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:34175705G>T uc001rlm.2 + 1 490 c.171G>T c.(169-171)CAG>CAT p.Q57H NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 57 Extracellular (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) CCCTTTCCCAGGTGGGGTCCC 0.642 NA 29 118 1.2476e-16 2.14601e-16 0.00632 1 0 DBX2 440097 broad.mit.edu 37 12 45417664 45417664 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:45417664C>A uc001rok.1 - 3 685 c.513G>T c.(511-513)ATG>ATT p.M171I NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 171 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) GGAGAGGCAGCATGCTCTCTT 0.448 NA 6 68 3.59834e-05 4.82573e-05 0.001168 1 0 DIP2B 57609 broad.mit.edu 37 12 51108375 51108375 + Silent SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:51108375A>G uc001rwv.2 + 23 3003 c.2847A>G c.(2845-2847)CAA>CAG p.Q949Q DIP2B_uc009zlt.2_Silent_p.Q379Q NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 949 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GGCAAAAACAACCAGGTAATA 0.448 NA 15 51 0 0 0.004007 0 0 KRT84 3890 broad.mit.edu 37 12 52774887 52774887 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:52774887C>G uc001sah.1 - 6 1228 c.1180G>C c.(1180-1182)GAG>CAG p.E394Q NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 394 Rod.|Coil 2. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGCTCAATCTCTGCCTTAAGC 0.552 NA 25 205 0 0 0.005443 0 0 KRT3 3850 broad.mit.edu 37 12 53189644 53189644 + Silent SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:53189644G>C uc001say.2 - 1 249 c.183C>G c.(181-183)GGC>GGG p.G61G NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 61 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 TCTTGTTGCCGCCCAGGTTGT 0.612 NA 13 105 0 0 0.001855 0 0 NUP107 57122 broad.mit.edu 37 12 69084516 69084516 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:69084516A>T uc001suf.2 + 4 408 c.293A>T c.(292-294)AAT>ATT p.N98I NUP107_uc001sug.2_5'UTR|NUP107_uc010stj.1_Missense_Mutation_p.N69I NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 98 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TTCTTTGGAAATCTCTCCATG 0.338 NA 17 83 0 0 0.004007 0 0 CCT2 10576 broad.mit.edu 37 12 69991418 69991418 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:69991418G>T uc001svb.1 + 12 1197 c.1103G>T c.(1102-1104)GGT>GTT p.G368V CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.G368V|CCT2_uc010stl.1_Missense_Mutation_p.G321V NM_006431 NP_006422 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 368 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TTAATTTTAGGTGAGGCTTGT 0.393 NA 16 82 3.41278e-10 5.41426e-10 0.00499 1 0 GLIPR1L2 144321 broad.mit.edu 37 12 75807464 75807464 + Silent SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:75807464A>T uc001sxr.1 + 3 575 c.567A>T c.(565-567)ATA>ATT p.I189I GLIPR1L2_uc001sxp.1_Silent_p.I189I|GLIPR1L2_uc001sxq.1_Silent_p.I82I NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 189 integral to membrane ovary(1) 1 CAATTTTCATATGCAACTATG 0.274 NA 27 174 0 0 0.005443 0 0 ANKS1B 56899 broad.mit.edu 37 12 99145221 99145221 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:99145221C>A uc001tge.1 - 25 4001 c.3584G>T c.(3583-3585)GGG>GTG p.G1195V ANKS1B_uc001tgf.1_Missense_Mutation_p.G711V|ANKS1B_uc001tgk.2_Missense_Mutation_p.G492V|ANKS1B_uc010svd.1_Missense_Mutation_p.G201V|ANKS1B_uc001tgd.1_Missense_Mutation_p.G361V|ANKS1B_uc009ztq.2_Missense_Mutation_p.G97V|ANKS1B_uc010sve.1_Missense_Mutation_p.G225V|ANKS1B_uc001tgh.3_Missense_Mutation_p.G201V|ANKS1B_uc001tgi.2_Missense_Mutation_p.G445V|ANKS1B_uc009ztr.2_Missense_Mutation_p.G385V|ANKS1B_uc001tgj.2_Missense_Mutation_p.G361V|ANKS1B_uc009ztp.2_Missense_Mutation_p.G226V|ANKS1B_uc010svf.1_Missense_Mutation_p.G225V|ANKS1B_uc001tgg.3_Missense_Mutation_p.G293V|ANKS1B_uc010svg.1_Missense_Mutation_p.G330V|ANKS1B_uc009zts.1_Missense_Mutation_p.G421V NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 1195 PID. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GGAGTGTCCCCCTTTTCTTGC 0.478 NA 12 101 7.03913e-09 1.08677e-08 0.001368 1 0 ANKS1B 56899 broad.mit.edu 37 12 100200327 100200327 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:100200327C>T uc001tge.1 - 4 941 c.524G>A c.(523-525)AGA>AAA p.R175K ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.R175K NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 175 ANK 5. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTTTACCACTCTAAGCCGTCC 0.493 NA 8 58 0 0 0.00308 0 0 NUAK1 9891 broad.mit.edu 37 12 106461516 106461516 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:106461516C>A uc001tlj.1 - 7 2430 c.1050G>T c.(1048-1050)AAG>AAT p.K350N NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 350 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TGGCCAGGCCCTTCATTTTGG 0.567 NA 12 77 5.50884e-06 7.6304e-06 0.001368 1 0 SDSL 113675 broad.mit.edu 37 12 113873251 113873251 + Silent SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:113873251G>C uc001tvi.2 + 7 771 c.561G>C c.(559-561)CTG>CTC p.L187L SDSL_uc009zwh.2_Silent_p.L187L NM_138432 NP_612441 Q96GA7 SDSL_HUMAN serine dehydratase-like 187 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) CTGGCCTGCTGGAGGTGGGCT 0.647 NA 10 34 0 0 0.006214 0 0 RBM19 9904 broad.mit.edu 37 12 114374889 114374889 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:114374889C>A uc009zwi.2 - 16 2135 c.1991G>T c.(1990-1992)AGC>ATC p.S664I RBM19_uc001tvn.3_Missense_Mutation_p.S664I|RBM19_uc001tvm.2_Missense_Mutation_p.S664I NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 664 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) TGGGGCTGTGCTGGAGAAGAC 0.527 NA 11 104 2.27111e-07 3.35891e-07 0.001368 1 0 UBC 7316 broad.mit.edu 37 12 125397469 125397469 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:125397469G>A uc001ugs.3 - 2 1297 c.849C>T c.(847-849)ACC>ACT p.T283T UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.T283T|UBC_uc001ugt.2_Silent_p.T283T|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.T131T NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 283 Ubiquitin-like 4. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) AGTCAGACAGGGTGCGCCCAT 0.527 NA 10 182 0 0 0.003163 0 0 AACS 65985 broad.mit.edu 37 12 125576036 125576036 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:125576036C>G uc001uhc.2 + 5 743 c.537C>G c.(535-537)ATC>ATG p.I179M AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.I179M|AACS_uc009zyh.2_RNA NM_023928 NP_076417 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 179 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding ovary(1)|liver(1)|central_nervous_system(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) TTGGTGCCATCTGGAGCTCCA 0.587 NA 8 38 0 0 0.006214 0 0 RNF17 56163 broad.mit.edu 37 13 25367307 25367307 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr13:25367307A>G uc001upr.2 + 10 1104 c.1063A>G c.(1063-1065)AGT>GGT p.S355G RNF17_uc010tdd.1_Missense_Mutation_p.S214G|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.S355G|RNF17_uc001ups.2_Missense_Mutation_p.S294G|RNF17_uc001upq.1_Missense_Mutation_p.S355G NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 355 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGTCCTAACCAGTGAAGCACC 0.393 NA 34 176 0 0 0.002836 0 0 ITM2B 9445 broad.mit.edu 37 13 48828025 48828025 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr13:48828025G>T uc001vbz.3 + 2 422 c.199G>T c.(199-201)GGT>TGT p.G67C NM_021999 NP_068839 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 67 Helical; Signal-anchor for type II membrane protein; (Potential). nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding 0 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) TATGCTTGCAGGTGTTATTCT 0.378 NA 14 61 4.14922e-12 6.75181e-12 0.004007 1 0 NALCN 259232 broad.mit.edu 37 13 102029296 102029296 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr13:102029296G>T uc001vox.1 - 5 676 c.487C>A c.(487-489)CCA>ACA p.P163T NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P163T|NALCN_uc001vpa.2_Missense_Mutation_p.P163T NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 163 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTGGTCCTTGGCAGTTCAAAT 0.378 NA 13 54 2.27111e-07 3.35891e-07 0.001368 1 0 OR4L1 122742 broad.mit.edu 37 14 20528948 20528948 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:20528948C>G uc001vwn.1 + 1 745 c.745C>G c.(745-747)CTG>GTG p.L249V NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGTGGTCACTCTGTTCTTTGG 0.408 NA 24 114 0 0 0.00278 0 0 CHD8 57680 broad.mit.edu 37 14 21860803 21860803 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:21860803G>C uc001was.1 - 34 5891 c.5797C>G c.(5797-5799)CCA>GCA p.P1933A CHD8_uc001war.1_Missense_Mutation_p.P1829A|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2212 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GTGGGGACTGGAGAGTCACCA 0.552 NA 14 140 0 0 0.00245 0 0 CHD8 57680 broad.mit.edu 37 14 21863152 21863152 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:21863152G>A uc001was.1 - 30 4566 c.4472C>T c.(4471-4473)GCA>GTA p.A1491V CHD8_uc001war.1_Missense_Mutation_p.A1387V|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1770 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCCACGTTCTGCAGCCTCTAT 0.527 NA 18 63 0 0 0.008871 0 0 MYH7 4625 broad.mit.edu 37 14 23893993 23893993 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:23893993C>A uc001wjx.2 - 22 2770 c.2664G>T c.(2662-2664)CAG>CAT p.Q888H NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 888 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCACTTGGAGCTGCAGGTCAT 0.607 NA 7 48 0.00198382 0.00247684 0.001984 1 0 PRKD1 5587 broad.mit.edu 37 14 30066936 30066936 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:30066936C>A uc001wqh.2 - 16 2376 c.2195G>T c.(2194-2196)CGG>CTG p.R732L NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 732 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TCCAATGATCCGGGCAAAACC 0.478 NA 11 55 2.31682e-05 3.14036e-05 0.003163 1 0 KLHDC2 23588 broad.mit.edu 37 14 50249171 50249171 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:50249171G>C uc001wwx.2 + 11 1440 c.1040G>C c.(1039-1041)AGA>ACA p.R347T SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.R347T|KLHDC2_uc010anp.2_3'UTR NM_014315 NP_055130 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 347 Kelch 6. nucleus protein binding ovary(1) 1 all_epithelial(31;0.000959)|Breast(41;0.0117) GTCCATCACAGAGCTGTAAGT 0.368 NA 7 88 0 0 0.001984 0 0 CGRRF1 10668 broad.mit.edu 37 14 55004779 55004779 + Splice_Site SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:55004779A>T uc001xay.2 + 6 770 c.679_splice c.e6-2 p.Q227_splice CGRRF1_uc001xaz.2_Splice_Site NM_006568 NP_006559 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding ovary(1) 1 TTTGATTTTCAGCAACTTTTC 0.303 NA 3 25 0 0 0.004672 0 0 C14orf149 112849 broad.mit.edu 37 14 59942718 59942718 + Nonsense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:59942718T>A uc001xee.1 - 4 847 c.808A>T c.(808-810)AGA>TGA p.R270* NM_144581 NP_653182 Q96EM0 PRCM_HUMAN proline racemase-like 270 proline racemase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.14) L-Proline(DB00172) GTGGGACTTCTGTCAACCTGT 0.428 NA 9 74 0 0 0.006214 0 0 MAP3K9 4293 broad.mit.edu 37 14 71197272 71197272 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:71197272G>C uc001xmm.2 - 12 3140 c.3140C>G c.(3139-3141)CCT>CGT p.P1047R MAP3K9_uc010ttk.1_Missense_Mutation_p.P775R|MAP3K9_uc001xmk.2_Missense_Mutation_p.P780R|MAP3K9_uc001xml.2_Missense_Mutation_p.P1061R NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 1047 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TGGAAGTCCAGGCCGCTCCTC 0.662 GBM(114;411 1587 13539 28235 50070) NA 5 52 0 0 0.000602 0 0 KIAA1409 57578 broad.mit.edu 37 14 94041456 94041456 + Missense_Mutation SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:94041456T>C uc001ybv.1 + 14 1675 c.1592T>C c.(1591-1593)TTT>TCT p.F531S KIAA1409_uc001ybs.1_Missense_Mutation_p.F531S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 708 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) ATAAGTATGTTTTCTGATGGA 0.368 NA 5 46 0 0 0.000602 0 0 KIAA1409 57578 broad.mit.edu 37 14 94088614 94088614 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:94088614C>G uc001ybv.1 + 28 4653 c.4570C>G c.(4570-4572)CTG>GTG p.L1524V KIAA1409_uc001ybs.1_Missense_Mutation_p.L1502V NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1679 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CGTCCTCAGCCTGAGCACAGC 0.527 NA 8 74 0 0 0.006214 0 0 PPP4R4 57718 broad.mit.edu 37 14 94708736 94708736 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr14:94708736C>T uc001ycs.1 + 11 1411 c.1257C>T c.(1255-1257)TGC>TGT p.C419C NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 419 HEAT 3. cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 TTGCTATTTGCTTTTATGAAG 0.323 NA 9 110 0 0 0.004482 0 0 GABRG3 2567 broad.mit.edu 37 15 27222202 27222202 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr15:27222202G>T uc001zbg.1 + 2 273 c.107G>T c.(106-108)TGG>TTG p.W36L GABRG3_uc001zbf.2_Missense_Mutation_p.W36L NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 36 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AACCAAAAGTGGGTCTTGGCT 0.423 NSCLC(114;800 1656 7410 37729 45293) NA 18 66 3.41278e-10 5.41426e-10 0.00499 1 0 RYR3 6263 broad.mit.edu 37 15 33954863 33954863 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr15:33954863G>T uc001zhi.2 + 35 5202 c.5132G>T c.(5131-5133)CGA>CTA p.R1711L RYR3_uc010bar.2_Missense_Mutation_p.R1711L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1711 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCCACATCCGAGACCCTGTA 0.562 NA 9 55 0.00448238 0.00553089 0.004482 1 0 SPTBN5 51332 broad.mit.edu 37 15 42166580 42166580 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr15:42166580G>A uc001zos.2 - 24 4827 c.4494C>T c.(4492-4494)CTC>CTT p.L1498L NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1533 Spectrin 12. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTACCCAAGAGAGCTCCATGT 0.617 NA 18 56 0 0 0.00499 0 0 MAP1A 4130 broad.mit.edu 37 15 43820365 43820365 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr15:43820365C>A uc001zrt.2 + 4 7161 c.6694C>A c.(6694-6696)CAG>AAG p.Q2232K NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2232 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTCACTGCCCCAGCTCCCATC 0.637 NA 15 97 1.52009e-12 2.49279e-12 0.003163 1 0 DMXL2 23312 broad.mit.edu 37 15 51743895 51743895 + Splice_Site SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr15:51743895C>G uc002abf.2 - 41 8856 c.8631_splice c.e41-1 p.R2877_splice DMXL2_uc002abd.2_Splice_Site_p.R969_splice|DMXL2_uc010ufy.1_Splice_Site_p.R2878_splice|DMXL2_uc010bfa.2_Splice_Site_p.R2241_splice|DMXL2_uc002abc.2_5'Flank NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) GCAAACATTTCTTTTAAAGAA 0.318 NA 10 38 0 0 0.00245 0 0 HCN4 10021 broad.mit.edu 37 15 73617680 73617680 + Nonsense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr15:73617680C>A uc002avp.2 - 5 2690 c.1696G>T c.(1696-1698)GAG>TAG p.E566* NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 566 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) ATGCTCTCCTCGTCGAACATC 0.667 NA 18 77 6.49762e-13 1.06831e-12 0.006122 1 0 ADAMTS17 170691 broad.mit.edu 37 15 100801810 100801810 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr15:100801810C>T uc002bvv.1 - 6 984 c.905G>A c.(904-906)CGG>CAG p.R302Q ADAMTS17_uc002bvx.1_Missense_Mutation_p.R59Q NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 302 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CTCCAGGGACCGCTCACCATG 0.547 NA 4 23 0 0 0.000248 0 0 WDR90 197335 broad.mit.edu 37 16 706348 706348 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:706348C>T uc002cii.1 + 18 2067 c.2013C>T c.(2011-2013)CTC>CTT p.L671L WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.L198L|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 671 WD 5. ovary(1) 1 Hepatocellular(780;0.0218) CCGATGGCCTCCGTGTGCTGT 0.706 NA 3 10 0 0 0.004672 0 0 IFT140 9742 broad.mit.edu 37 16 1621515 1621515 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:1621515G>A uc002cmb.2 - 14 1907 c.1545C>T c.(1543-1545)CTC>CTT p.L515L IFT140_uc002clz.2_Silent_p.L166L NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 515 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) CCGAGAAAAGGAGGAGTTGTT 0.418 NA 6 35 0 0 0.001984 0 0 SEC14L5 9717 broad.mit.edu 37 16 5064946 5064946 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:5064946A>G uc002cye.2 + 16 2246 c.2066A>G c.(2065-2067)CAT>CGT p.H689R NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 689 Ser-rich. integral to membrane|intracellular transporter activity 0 GGCCAGTCTCATAGCAGCTCC 0.642 NA 13 64 0 0 0.00245 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857858 9857858 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:9857858G>A uc002czo.3 - 13 4091 c.3543C>T c.(3541-3543)AAC>AAT p.N1181N GRIN2A_uc010uym.1_Silent_p.N1181N|GRIN2A_uc010uyn.1_Silent_p.N1024N|GRIN2A_uc002czr.3_Silent_p.N1181N NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1181 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) TATACTGGTCGTTGTTGGAAA 0.552 NA 19 351 0 0 0.001523 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032087 10032087 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:10032087G>T uc002czo.3 - 3 1284 c.736C>A c.(736-738)CTT>ATT p.L246I GRIN2A_uc010uym.1_Missense_Mutation_p.L246I|GRIN2A_uc010uyn.1_Missense_Mutation_p.L89I|GRIN2A_uc002czr.3_Missense_Mutation_p.L246I NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 246 Extracellular (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) GTGAGGCCAAGGGAGCGGGCC 0.507 NA 12 78 3.07112e-06 4.28198e-06 0.000978 1 0 ZC3H7A 29066 broad.mit.edu 37 16 11861348 11861348 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:11861348C>T uc002dbk.2 - 12 1645 c.1447G>A c.(1447-1449)GAA>AAA p.E483K ZC3H7A_uc002dbj.2_5'Flank|ZC3H7A_uc002dbl.2_Missense_Mutation_p.E483K|ZC3H7A_uc002dbm.1_Missense_Mutation_p.E393K NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 483 nucleus nucleic acid binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 GATTTATCTTCAACATTCTTT 0.289 NA 10 72 0 0 0.006214 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251807 25251807 + Missense_Mutation SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:25251807T>C uc002dod.3 - 7 2641 c.2234A>G c.(2233-2235)AAG>AGG p.K745R ZKSCAN2_uc010vcl.1_Missense_Mutation_p.K541R NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 745 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) GTAGGGTCTCTTCCCCACAAA 0.478 NA 6 86 0 0 0.001168 0 0 IL21R 50615 broad.mit.edu 37 16 27441410 27441410 + Silent SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:27441410C>A uc002doq.1 + 2 251 c.18C>A c.(16-18)GCC>GCA p.A6A IL21R_uc002dor.1_Silent_p.A6A|IL21R_uc002dos.1_Silent_p.A6A NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 6 natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 GTGGCTGGGCCGCCCCCTTGC 0.721 NA T BCL6 NHL 5 29 3.59834e-05 4.82573e-05 0.001168 1 0 RABEP2 79874 broad.mit.edu 37 16 28926016 28926016 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:28926016C>T uc002drq.2 - 4 568 c.520G>A c.(520-522)GAG>AAG p.E174K uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.E103K|RABEP2_uc010byn.2_Missense_Mutation_p.E174K|RABEP2_uc002drr.2_Missense_Mutation_p.E174K NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 174 Potential. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 ATCAGCTCCTCGGCCCTCAGC 0.677 Pancreas(66;639 1284 10093 31061 49099) NA 13 127 0 0 0.00499 0 0 PHKG2 5261 broad.mit.edu 37 16 30762447 30762447 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:30762447G>T uc002dzk.1 + 3 209 c.116G>T c.(115-117)CGC>CTC p.R39L PHKG2_uc002dzi.1_Missense_Mutation_p.R39L|PHKG2_uc002dzj.1_5'UTR|PHKG2_uc002dzl.1_Missense_Mutation_p.R39L NM_000294 NP_000285 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 39 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1) 1 Colorectal(24;0.198) TCTGTGGTCCGCCGTTGTGTT 0.577 NA 7 55 0.000157383 0.000204987 0.00308 1 0 ITGAX 3687 broad.mit.edu 37 16 31373976 31373976 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:31373976G>T uc002ebu.1 + 12 1328 c.1261G>T c.(1261-1263)GTC>TTC p.V421F ITGAX_uc002ebt.2_Missense_Mutation_p.V421F|ITGAX_uc010vfk.1_Missense_Mutation_p.V71F NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 421 FG-GAP 4.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCAGAGCCTGGTCCTGGGGGC 0.657 NA 5 20 3.59834e-05 4.82573e-05 0.001168 1 0 SHCBP1 79801 broad.mit.edu 37 16 46615701 46615701 + Silent SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:46615701C>A uc002eec.3 - 13 1999 c.1959G>T c.(1957-1959)GGG>GGT p.G653G NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 653 p.G653G(1) ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) TCCCCACAATCCCAACAAACA 0.428 NA 18 101 1.9806e-07 2.97795e-07 0.002299 1 0 NFAT5 10725 broad.mit.edu 37 16 69725991 69725991 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:69725991G>A uc002exm.1 + 12 3417 c.2209G>A c.(2209-2211)GCA>ACA p.A737T NFAT5_uc002exi.2_Missense_Mutation_p.A661T|NFAT5_uc002exj.1_Missense_Mutation_p.A661T|NFAT5_uc002exk.1_Missense_Mutation_p.A661T|NFAT5_uc002exl.1_Missense_Mutation_p.A755T|NFAT5_uc002exn.1_Missense_Mutation_p.A754T|NFAT5_uc002exo.1_5'Flank NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 737 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 ACTGACTGAGGCATCACAACA 0.408 NA 15 60 0 0 0.003163 0 0 DPEP1 1800 broad.mit.edu 37 16 89704489 89704489 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:89704489G>A uc010cin.2 + 11 1298 c.1095G>A c.(1093-1095)GAG>GAA p.E365E DPEP1_uc002fnr.3_Silent_p.E365E|DPEP1_uc002fns.3_Silent_p.E365E NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 365 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CTCCCGAGGAGGAGCCCATCC 0.687 NA 3 14 0 0 0.004672 0 0 DPEP1 1800 broad.mit.edu 37 16 89704574 89704574 + Missense_Mutation SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr16:89704574T>G uc010cin.2 + 11 1383 c.1180T>G c.(1180-1182)TGG>GGG p.W394G DPEP1_uc002fnr.3_Missense_Mutation_p.W394G|DPEP1_uc002fns.3_Missense_Mutation_p.W394G NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 394 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CCATCGCCACTGGGGGCTCCT 0.662 NA 6 33 0 0 0.001984 0 0 SPAG7 9552 broad.mit.edu 37 17 4863187 4863187 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:4863187C>T uc002gae.2 - 6 475 c.442G>A c.(442-444)GAG>AAG p.E148K SPAG7_uc002gad.2_Missense_Mutation_p.E97K|SPAG7_uc002gaf.2_Missense_Mutation_p.E148K NM_004890 NP_004881 O75391 SPAG7_HUMAN sperm associated antigen 7 148 nucleus nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 TGGGCTGCCTCCTCCTCTTGC 0.662 NA 11 60 0 0 0.000978 0 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C A rs121912656 TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:7577547C>A uc002gim.2 - 7 928 c.734G>T c.(733-735)GGC>GTC p.G245V TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGGTTCATGCCGCCCATGCA 0.582 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 60 4.7546e-09 7.37663e-09 0.004007 1 0 MYH2 4620 broad.mit.edu 37 17 10448670 10448670 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:10448670C>A uc010coi.2 - 5 626 c.498G>T c.(496-498)ATG>ATT p.M166I uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.M166I|MYH2_uc010coj.2_Missense_Mutation_p.M166I NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 166 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 CACCAGTCAGCATGAACTGAT 0.522 NA 44 245 8.0703e-11 1.29657e-10 0.00361 1 0 DNAH9 1770 broad.mit.edu 37 17 11687720 11687720 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:11687720C>T uc002gne.2 + 41 7993 c.7925C>T c.(7924-7926)GCG>GTG p.A2642V DNAH9_uc010coo.2_Missense_Mutation_p.A1936V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2642 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AACTTCCCGGCGTCCCTGCAG 0.547 NA 24 143 0 0 0.00333 0 0 SMCR7 125170 broad.mit.edu 37 17 18167939 18167939 + Missense_Mutation SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:18167939T>G uc002gst.2 + 4 1437 c.1226T>G c.(1225-1227)ATC>AGC p.I409S SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.I420S NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 409 integral to membrane protein binding 0 all_neural(463;0.228) GAGCTGCTCATCGGCAGCCTG 0.632 NA 11 57 0 0 0.008291 0 0 Unknown 0 broad.mit.edu 37 17 21731267 21731267 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:21731267C>G uc002gyy.3 + 2 694 c.569C>G c.(568-570)CCG>CGG p.P190R SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA GGCATCCCCCCGATCAGCAGA 0.547 NA 28 98 0 0 0.005443 0 0 NEK8 284086 broad.mit.edu 37 17 27061971 27061971 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:27061971C>T uc002hcp.2 + 3 435 c.435C>T c.(433-435)ATC>ATT p.I145I NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 145 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) TCGTCAAGATCGGTGATTTCG 0.562 NSCLC(6;19 293 14866 25253 49845) NA 29 107 0 0 0.001786 0 0 MYO18A 399687 broad.mit.edu 37 17 27445428 27445428 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:27445428C>G uc002hdt.1 - 9 2018 c.1860G>C c.(1858-1860)GAG>GAC p.E620D MYO18A_uc010wbc.1_Missense_Mutation_p.E162D|MYO18A_uc002hds.2_Missense_Mutation_p.E162D|MYO18A_uc010csa.1_Missense_Mutation_p.E620D|MYO18A_uc002hdu.1_Missense_Mutation_p.E620D|MYO18A_uc010wbd.1_Missense_Mutation_p.E289D NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 620 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACACATTGTTCTCTGCCAAGT 0.597 Esophageal Squamous(182;472 2015 7001 15270 22562) NA 4 21 0 0 0.000602 0 0 AMAC1 146861 broad.mit.edu 37 17 33520323 33520323 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:33520323C>T uc002hjd.2 - 1 1090 c.1004G>A c.(1003-1005)AGG>AAG p.R335K NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 335 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) CTCCTCCACCCTCCCTGTCCT 0.557 NA 4 73 0 0 0.000248 0 0 LASP1 3927 broad.mit.edu 37 17 37070638 37070638 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:37070638G>C uc002hra.2 + 5 749 c.418G>C c.(418-420)GAG>CAG p.E140Q LASP1_uc010cvq.2_Missense_Mutation_p.W17C|LASP1_uc010wdz.1_Missense_Mutation_p.E84Q NM_006148 NP_006139 Q14847 LASP1_HUMAN LIM and SH3 protein 1 140 cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding lung(1) 1 CGAGGGCATGGAGCCAGAGCG 0.632 NA T MLL AML 3 41 0 0 0.004672 0 0 FKBP10 60681 broad.mit.edu 37 17 39974664 39974664 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:39974664C>T uc002hxv.2 + 4 937 c.612C>T c.(610-612)TAC>TAT p.Y204Y FKBP10_uc002hxw.1_5'Flank NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 204 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) ATGACACCTACGTCGGCTCTG 0.592 NA 7 49 0 0 0.004482 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40666456 40666456 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:40666456C>T uc002hzr.2 + 21 2565 c.2398C>T c.(2398-2400)CTC>TTC p.L800F ATP6V0A1_uc002hzq.2_Missense_Mutation_p.L794F|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.L801F|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.L757F|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.L751F|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.L446F|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.L659F|ATP6V0A1_uc002hzt.2_Missense_Mutation_p.L84F NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 800 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CTCGGCCTTTCTCCACGCACT 0.612 NA 30 143 0 0 0.002096 0 0 KIAA1267 284058 broad.mit.edu 37 17 44249069 44249069 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:44249069T>A uc002ikb.2 - 1 526 c.441A>T c.(439-441)ACA>ACT p.T147T KIAA1267_uc002ikc.2_Silent_p.T147T|KIAA1267_uc002ikd.2_Silent_p.T147T|KIAA1267_uc010dav.2_Silent_p.T147T NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 147 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) GTGGCAGAGCTGTCTGACCAC 0.438 NA 49 476 0 0 0.00361 0 0 RAD51C 5889 broad.mit.edu 37 17 56780677 56780677 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:56780677C>T uc002iwu.2 + 4 734 c.692C>T c.(691-693)TCA>TTA p.S231L RAD51C_uc010woa.1_Missense_Mutation_p.S231L|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 231 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) GATTTCCTTTCAGAACACTCA 0.333 NA Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 10 118 0 0 0.001855 0 0 PITPNC1 26207 broad.mit.edu 37 17 65688837 65688837 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:65688837A>T uc002jgc.2 + 9 1179 c.832A>T c.(832-834)ACC>TCC p.T278S PITPNC1_uc002jgb.2_3'UTR NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, 278 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding skin(1) 1 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) TGCTCCATCCACCCCTCTCTC 0.547 NA 27 137 0 0 0.004656 0 0 ABCA8 10351 broad.mit.edu 37 17 66883272 66883272 + Splice_Site SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:66883272C>A uc002jhp.2 - 24 3375 c.3196_splice c.e24-1 p.I1066_splice ABCA8_uc002jhq.2_Splice_Site_p.I1106_splice|ABCA8_uc010wqq.1_Splice_Site_p.I1106_splice|ABCA8_uc010wqr.1_Intron NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CACATGGGATCTAAAATCAAC 0.353 NA 11 22 3.07112e-06 4.28198e-06 0.000978 1 0 CD300LB 124599 broad.mit.edu 37 17 72522083 72522083 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:72522083G>A uc002jkx.2 - 2 298 c.285C>T c.(283-285)TGC>TGT p.C95C CD300LB_uc010wqz.1_Silent_p.C95C NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 58 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1) 1 TGAGGATCTTGCATGTATCCC 0.547 NA 34 159 0 0 0.003755 0 0 LLGL2 3993 broad.mit.edu 37 17 73569271 73569271 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr17:73569271C>T uc002joh.2 + 20 2791 c.2637C>T c.(2635-2637)CCC>CCT p.P879P LLGL2_uc002joi.2_Silent_p.P879P|LLGL2_uc010dgg.1_Silent_p.P879P|LLGL2_uc002joj.2_Silent_p.P868P|LLGL2_uc010wsd.1_Silent_p.P506P NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 879 WD 13. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TCTCGCTGCCCCTGCTCAAGC 0.642 NA 11 47 0 0 0.001368 0 0 DSG3 1830 broad.mit.edu 37 18 29039937 29039937 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr18:29039937G>T uc002kws.2 + 6 756 c.647G>T c.(646-648)GGG>GTG p.G216V NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 216 Extracellular (Potential).|Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGAAACACTGGGGAAGTCCGT 0.433 NA 8 43 1.12685e-05 1.54393e-05 0.004482 1 0 ASXL3 80816 broad.mit.edu 37 18 31322919 31322919 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr18:31322919G>T uc010dmg.1 + 12 3162 c.3107G>T c.(3106-3108)CGA>CTA p.R1036L ASXL3_uc002kxq.2_Missense_Mutation_p.R743L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1036 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CCTGAGTCTCGAGCATCCACT 0.507 NA 8 17 1.12685e-05 1.54393e-05 0.004482 1 0 MOCOS 55034 broad.mit.edu 37 18 33800118 33800118 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr18:33800118G>T uc002kzq.3 + 9 1921 c.1898G>T c.(1897-1899)CGG>CTG p.R633L NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 633 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) CAGGAACCCCGGCTCTGCCTG 0.527 NA 11 68 3.07112e-06 4.28198e-06 0.000978 1 0 SMAD2 4087 broad.mit.edu 37 18 45371730 45371730 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr18:45371730C>A uc002lcy.2 - 10 1509 c.1261G>T c.(1261-1263)GGG>TGG p.G421W SMAD2_uc002lcz.2_Missense_Mutation_p.G421W|SMAD2_uc010xdc.1_Missense_Mutation_p.G391W|SMAD2_uc010xdd.1_Missense_Mutation_p.G391W NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 421 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 GCTCCCCACCCTTTCACAAAA 0.388 NA 16 95 1.99824e-07 2.98322e-07 0.00499 1 0 LMAN1 3998 broad.mit.edu 37 18 57013159 57013159 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr18:57013159C>A uc002lhz.2 - 8 979 c.947G>T c.(946-948)GGG>GTG p.G316V NM_005570 NP_005561 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 precursor 316 Lumenal (Potential). blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding skin(1) 1 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) ACCAGGCTGCCCTTGGAGGTC 0.488 NA 22 70 6.44725e-10 1.02028e-09 0.002299 1 0 C3 718 broad.mit.edu 37 19 6710817 6710817 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:6710817C>G uc002mfm.2 - 13 1581 c.1519G>C c.(1519-1521)GTG>CTG p.V507L NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 507 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGCTCTCGCACCTGGCGTCCC 0.652 NA 15 46 0 0 0.007413 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8657674 8657674 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:8657674C>T uc002mkj.1 - 13 1834 c.1560G>A c.(1558-1560)CTG>CTA p.L520L ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Silent_p.L152L NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 520 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 GCGTCTGGCACAGCGTGCCCT 0.716 NA 6 33 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9073651 9073651 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:9073651G>T uc002mkp.2 - 3 13999 c.13795C>A c.(13795-13797)CTG>ATG p.L4599M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4601 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCAGCAGTCAGGGAGGATGTT 0.502 NA 9 56 1.76689e-08 2.69504e-08 0.006214 1 0 MUC16 94025 broad.mit.edu 37 19 9083145 9083145 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:9083145C>T uc002mkp.2 - 1 8874 c.8670G>A c.(8668-8670)TTG>TTA p.L2890L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2891 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACTCAAATGTCAAGGTAGACT 0.517 NA 7 40 0 0 0.00308 0 0 ZNF559 84527 broad.mit.edu 37 19 9452607 9452607 + Silent SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:9452607A>T uc002mlg.2 + 7 1127 c.480A>T c.(478-480)CTA>CTT p.L160L ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Silent_p.L152L|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.L224L|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 160 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCCAACATCTACATCTTGTTT 0.373 NA 27 134 0 0 0.005443 0 0 ZNF121 7675 broad.mit.edu 37 19 9677452 9677452 + Nonsense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:9677452C>A uc010xkp.1 - 4 569 c.337G>T c.(337-339)GAA>TAA p.E113* ZNF121_uc010dwt.2_Nonsense_Mutation_p.E113*|ZNF121_uc010xkq.1_Nonsense_Mutation_p.E113* NM_001008727 NP_001008727 P58317 ZN121_HUMAN zinc finger protein 121 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAGAGTGTTTCTCCATTGTGA 0.413 NA 12 56 4.3838e-07 6.43839e-07 0.001855 1 0 ICAM1 3383 broad.mit.edu 37 19 10395694 10395694 + Silent SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:10395694G>C uc002mnq.2 + 6 1735 c.1416G>C c.(1414-1416)GTG>GTC p.V472V ICAM1_uc010xle.1_Silent_p.V250V|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 472 Extracellular (Potential). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) AGGTGACCGTGAATGTGCTCT 0.627 NA 4 42 0 0 0.000602 0 0 SFRS14 10147 broad.mit.edu 37 19 19121141 19121141 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:19121141C>G uc002nkx.2 - 5 2007 c.1861G>C c.(1861-1863)GAT>CAT p.D621H SFRS14_uc002nkz.1_Missense_Mutation_p.D635H|SFRS14_uc002nla.1_Missense_Mutation_p.D621H|SFRS14_uc002nlb.2_Missense_Mutation_p.D621H|SFRS14_uc010xqk.1_Missense_Mutation_p.D390H NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 621 SURP motif 1. mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) CTATTTTCATCAGACAAAAAC 0.438 NA 23 207 0 0 0.00278 0 0 SLC25A42 284439 broad.mit.edu 37 19 19216420 19216420 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:19216420C>T uc002nlf.1 + 5 415 c.264C>T c.(262-264)AGC>AGT p.S88S SLC25A42_uc010xqn.1_Silent_p.S140S NM_178526 NP_848621 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 88 Solcar 1. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) GATTTCTCAGCTTGTGGCGCG 0.622 NA 7 16 0 0 0.001984 0 0 NCAN 1463 broad.mit.edu 37 19 19338336 19338336 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:19338336T>A uc002nlz.2 + 8 2006 c.1907T>A c.(1906-1908)CTG>CAG p.L636Q NCAN_uc010ecc.1_Missense_Mutation_p.L200Q NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 636 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) ATGGCCATGCTGCGTGGTCCC 0.637 NA 14 56 0 0 0.003163 0 0 KIAA0892 23383 broad.mit.edu 37 19 19454666 19454666 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:19454666C>T uc002nmk.3 + 10 1033 c.994C>T c.(994-996)CTG>TTG p.L332L KIAA0892_uc002nml.3_5'Flank|KIAA0892_uc010ecd.2_5'Flank NM_015329 NP_056144 Q9Y6X3 SCC4_HUMAN hypothetical protein LOC23383 precursor 332 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding 0 CAGCCCCATCCTGTCATCCTT 0.637 NA 18 111 0 0 0.006122 0 0 LOC284441 284441 broad.mit.edu 37 19 20370104 20370104 + Silent SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:20370104A>G uc002nov.2 + 1 1648 c.897A>G c.(895-897)GTA>GTG p.V299V NR_003128 SubName: Full=cDNA FLJ51655, highly similar to Actin-like protein 2; 0 AGCACATGGTATTCTTGGGTG 0.413 NA 10 40 0 0 0.000978 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727531 20727531 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:20727531G>A uc002npa.2 - 4 1658 c.1478C>T c.(1477-1479)TCC>TTC p.S493F NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 493 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AAGGATAAAGGAGCGCTTAAA 0.423 NA 6 34 0 0 0.001168 0 0 ZNF676 163223 broad.mit.edu 37 19 22363099 22363099 + Nonsense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:22363099C>A uc002nqs.1 - 3 1738 c.1420G>T c.(1420-1422)GAG>TAG p.E474* NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TAAGGTTTCTCTGCAGCATGA 0.393 NA 28 107 1.08312e-15 1.8332e-15 0.001786 1 0 ZNF492 57615 broad.mit.edu 37 19 22847414 22847415 + Missense_Mutation DNP GG GG TT TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:22847414_22847415GG>TT uc002nqw.3 + 4 1187_1188 c.943_944GG>TT c.(943-945)GGT>TTT p.G315F NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 315 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TGAAGAATGTGGTAAGGCCTTT 0.381 NA 11 52 0 0 0.004672 0 0 ZNF536 9745 broad.mit.edu 37 19 30936456 30936456 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:30936456G>T uc002nsu.1 + 2 2125 c.1987G>T c.(1987-1989)GGG>TGG p.G663W ZNF536_uc010edd.1_Missense_Mutation_p.G663W NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 663 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) CGAGGAGGATGGGCTGCACGT 0.697 NA 7 51 0.00198382 0.00247684 0.001984 1 0 ZNF536 9745 broad.mit.edu 37 19 31039052 31039052 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:31039052C>A uc002nsu.1 + 4 2664 c.2526C>A c.(2524-2526)TTC>TTA p.F842L ZNF536_uc010edd.1_Missense_Mutation_p.F842L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 842 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) GGGGGGCCTTCAAGGGTCTCC 0.587 NA 25 76 6.36457e-07 9.28289e-07 0.003954 1 0 DPY19L3 147991 broad.mit.edu 37 19 32949374 32949374 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:32949374C>T uc002ntg.2 + 12 1457 c.1281C>T c.(1279-1281)ATC>ATT p.I427I DPY19L3_uc002nth.1_Silent_p.I427I|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 427 Helical; (Potential). integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) TTCTGTCCATCACAGTGATTG 0.373 NA 12 203 0 0 0.001368 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643728 37643728 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:37643728T>A uc002ofo.1 - 5 1304 c.1073A>T c.(1072-1074)GAG>GTG p.E358V ZNF585A_uc002ofm.1_Missense_Mutation_p.E303V|ZNF585A_uc002ofn.1_Missense_Mutation_p.E303V NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 358 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTCCCACACTCAGTACATAT 0.408 NA 28 131 0 0 0.00632 0 0 CYP2B6 1555 broad.mit.edu 37 19 41515256 41515256 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:41515256G>A uc002opr.1 + 5 785 c.778G>A c.(778-780)GCC>ACC p.A260T CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 260 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GGACCCCAGCGCCCCCAAGGA 0.448 NA 20 58 0 0 0.008871 0 0 ATP1A3 478 broad.mit.edu 37 19 42492226 42492226 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:42492226C>T uc002osg.2 - 4 373 c.219G>A c.(217-219)CCG>CCA p.P73P ATP1A3_uc010xwf.1_Silent_p.P84P|ATP1A3_uc010xwg.1_Silent_p.P43P|ATP1A3_uc010xwh.1_Silent_p.P86P|ATP1A3_uc002osh.2_Silent_p.P73P NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 73 Interaction with phosphoinositide-3 kinase (By similarity).|Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 GGGTGGTAGGCGGTGGCGTGA 0.622 NA 10 86 0 0 0.006214 0 0 TMEM145 284339 broad.mit.edu 37 19 42819386 42819386 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:42819386C>G uc002otk.1 + 7 604 c.552C>G c.(550-552)ATC>ATG p.I184M NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 184 Helical; (Potential). integral to membrane 0 Prostate(69;0.00682) tcatcctcatcttcttcctct 0.453 NA 4 63 0 0 0.000248 0 0 TMEM145 284339 broad.mit.edu 37 19 42819403 42819403 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:42819403A>T uc002otk.1 + 7 621 c.569A>T c.(568-570)TAC>TTC p.Y190F NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 190 Helical; (Potential). integral to membrane 0 Prostate(69;0.00682) ctctcttGTTACTTTGGATGT 0.453 NA 8 78 0 0 0.00308 0 0 ZNF221 7638 broad.mit.edu 37 19 44470668 44470668 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:44470668C>T uc002oxx.2 + 6 1342 c.1014C>T c.(1012-1014)TTC>TTT p.F338F ZNF221_uc010ejb.1_Silent_p.F338F|ZNF221_uc010xws.1_Silent_p.F338F NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 338 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) AAAAAGCATTCAGATGTGATA 0.413 NA 12 160 0 0 0.001368 0 0 ZNF233 353355 broad.mit.edu 37 19 44778728 44778728 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:44778728C>A uc002oyz.1 + 5 2042 c.1915C>A c.(1915-1917)CAG>AAG p.Q639K ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.Q454K NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 639 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) TCAAGCCCATCAGAGAGTCCA 0.428 NA 21 58 4.35082e-09 6.76675e-09 0.001523 1 0 LIG1 3978 broad.mit.edu 37 19 48665538 48665538 + Nonsense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:48665538C>A uc002pia.1 - 3 208 c.88G>T c.(88-90)GAG>TAG p.E30* LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Nonsense_Mutation_p.E30*|LIG1_uc010xzg.1_Intron|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 30 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GGCTCCGTCTCTCTGCTGCTA 0.378 NA NER 16 209 3.41278e-10 5.41426e-10 0.00499 1 0 ZNF610 162963 broad.mit.edu 37 19 52868949 52868949 + Splice_Site SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:52868949A>T uc002pyx.3 + 6 726 c.320_splice c.e6-2 p.G107_splice ZNF610_uc002pyy.3_Splice_Site_p.G107_splice|ZNF610_uc002pyz.3_Splice_Site_p.G64_splice|ZNF610_uc002pza.2_Splice_Site_p.G107_splice NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) CTTCTTTTCTAGGGAGGAGCT 0.448 NA 20 118 0 0 0.001882 0 0 ZNF528 84436 broad.mit.edu 37 19 52918883 52918883 + Nonsense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:52918883C>T uc002pzh.2 + 7 1204 c.778C>T c.(778-780)CAA>TAA p.Q260* ZNF528_uc002pzi.2_Nonsense_Mutation_p.Q27* NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 260 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TTCACAACATCAAAGAATTCA 0.388 NA 8 99 0 0 0.00308 0 0 VN1R2 317701 broad.mit.edu 37 19 53762367 53762367 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:53762367G>A uc002qbi.2 + 1 823 c.739G>A c.(739-741)GGA>AGA p.G247R NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 247 Extracellular (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) AGGAGATTTGGGATATTGTTC 0.438 NA 15 113 0 0 0.004007 0 0 LILRA2 11027 broad.mit.edu 37 19 55086935 55086935 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:55086935G>T uc002qgg.3 + 5 957 c.868G>T c.(868-870)GGG>TGG p.G290W LILRA2_uc010ern.2_Missense_Mutation_p.G290W|LILRA2_uc002qgf.2_Missense_Mutation_p.G290W|LILRA2_uc010yfe.1_Missense_Mutation_p.G290W|LILRA2_uc010yff.1_Missense_Mutation_p.G278W|LILRA2_uc010ero.2_Missense_Mutation_p.G278W|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 290 Ig-like C2-type 3.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CCCCTCCCACGGGGGCCAGTA 0.657 NA 10 59 1.76689e-08 2.69504e-08 0.006214 1 0 NLRP7 199713 broad.mit.edu 37 19 55447692 55447692 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:55447692C>T uc002qih.3 - 6 2313 c.2237G>A c.(2236-2238)CGC>CAC p.R746H NLRP7_uc002qig.3_Missense_Mutation_p.R718H|NLRP7_uc002qii.3_Missense_Mutation_p.R746H|NLRP7_uc010esk.2_Missense_Mutation_p.R746H|NLRP7_uc010esl.2_Missense_Mutation_p.R774H NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 746 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CATCATCGTGCGTTCCCACTC 0.572 NA 6 78 0 0 0.001984 0 0 ZNF606 80095 broad.mit.edu 37 19 58490898 58490898 + Missense_Mutation SNP C C T rs142065196 byFrequency TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:58490898C>T uc002qqw.2 - 7 1768 c.1150G>A c.(1150-1152)GAC>AAC p.D384N ZNF606_uc010yhp.1_Missense_Mutation_p.D294N NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) AGGAAAGAGTCATACCCAAAG 0.363 NA 19 96 0 0 0.007413 0 0 ZNF274 10782 broad.mit.edu 37 19 58723923 58723923 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr19:58723923G>A uc002qrq.1 + 10 1835 c.1376G>A c.(1375-1377)AGT>AAT p.S459N ZNF274_uc002qrr.1_Missense_Mutation_p.S427N|ZNF274_uc002qrs.1_Missense_Mutation_p.S354N|ZNF274_uc010eum.1_Missense_Mutation_p.S218N NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 459 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) CAAGTTAAAAGTATGAAACAT 0.428 NA 11 135 0 0 0.008291 0 0 PXDN 7837 broad.mit.edu 37 2 1652789 1652789 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:1652789A>T uc002qxa.2 - 17 2827 c.2763T>A c.(2761-2763)CAT>CAA p.H921Q NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 921 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGCGGGCCTCATGCTCCGTGC 0.672 NA 9 38 0 0 0.000978 0 0 PXDN 7837 broad.mit.edu 37 2 1653262 1653262 + Nonsense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:1653262C>A uc002qxa.2 - 17 2354 c.2290G>T c.(2290-2292)GAG>TAG p.E764* NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 764 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGCAGGCGCTCGAAGGCGGTC 0.632 NA 27 130 5.77227e-19 1.02636e-18 0.008361 1 0 POMC 5443 broad.mit.edu 37 2 25384028 25384028 + Silent SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:25384028G>T uc002rfy.1 - 4 989 c.726C>A c.(724-726)ACC>ACA p.T242T POMC_uc002rfz.1_Silent_p.T242T|POMC_uc002rga.1_Silent_p.T242T NM_001035256 NP_001030333 P01189 COLI_HUMAN proopiomelanocortin preproprotein 242 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TCTTCTCGGAGGTCATGAAAC 0.642 Colon(110;1515 1566 8452 10082 43216) NA 9 45 1.58986e-06 2.26663e-06 0.008291 1 0 ALK 238 broad.mit.edu 37 2 29551314 29551314 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:29551314C>A uc002rmy.2 - 6 2223 c.1316G>T c.(1315-1317)AGC>ATC p.S439I NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 439 LDL-receptor class A.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AGTGAAGGAGCTCTGCAGGGC 0.587 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 6 61 1.06961e-07 1.61206e-07 0.00308 1 0 SPRED2 200734 broad.mit.edu 37 2 65561881 65561881 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:65561881C>A uc002sdr.3 - 3 766 c.231G>T c.(229-231)AAG>AAT p.K77N SPRED2_uc010fcw.2_Missense_Mutation_p.K74N|SPRED2_uc010fcx.1_Intron NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 77 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 AGACCAAGTCCTTTCTTACAT 0.448 NA 27 145 1.88708e-17 3.29979e-17 0.008361 1 0 ALMS1 7840 broad.mit.edu 37 2 73680958 73680958 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:73680958C>G uc002sje.1 + 10 7418 c.7307C>G c.(7306-7308)TCT>TGT p.S2436C ALMS1_uc002sjf.1_Missense_Mutation_p.S2392C|ALMS1_uc002sjg.2_Missense_Mutation_p.S1822C|ALMS1_uc002sjh.1_Missense_Mutation_p.S1822C NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2434 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 TTACCAGAGTCTTTGGAATCA 0.393 NA 9 75 0 0 0.006214 0 0 DUSP11 8446 broad.mit.edu 37 2 74000985 74000985 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:74000985C>A uc002sjp.2 - 4 558 c.516G>T c.(514-516)GAG>GAT p.E172D DUSP11_uc002sjq.3_Missense_Mutation_p.E172D NM_003584 NP_003575 O75319 DUS11_HUMAN dual specificity phosphatase 11 125 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding skin(1) 1 TAAAAATAGTCTCATCATCAG 0.308 NA 22 154 6.33239e-15 1.06891e-14 0.001523 1 0 REG1A 5967 broad.mit.edu 37 2 79349171 79349171 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:79349171G>T uc002snz.2 + 4 344 c.241G>T c.(241-243)GGT>TGT p.G81C REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.G81C NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 81 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 CCAGGCCGAGGGTGCCTTTGT 0.517 NA 12 105 7.93312e-07 1.14129e-06 0.00245 1 0 ANKRD36 375248 broad.mit.edu 37 2 97860624 97860624 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:97860624G>A uc010yva.1 + 40 2765 c.2521G>A c.(2521-2523)GGA>AGA p.G841R ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_Intron NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 841 0 TATAACCAGAGGAAAAAAGGA 0.338 NA 3 14 0 0 0.004672 0 0 RANBP2 5903 broad.mit.edu 37 2 109374925 109374925 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:109374925G>T uc002tem.3 + 18 2649 c.2523G>T c.(2521-2523)TGG>TGT p.W841C NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 841 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CTCATCGTTGGCCCACAGAGA 0.388 NA 46 333 7.05121e-23 1.27526e-22 0.002522 1 0 MERTK 10461 broad.mit.edu 37 2 112786085 112786085 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:112786085G>A uc002thk.1 + 19 2766 c.2644G>A c.(2644-2646)GAG>AAG p.E882K MERTK_uc002thl.1_Missense_Mutation_p.E706K NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 882 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 GGAGAGCTCTGAGGGCCTGGC 0.527 NA 7 156 0 0 0.001984 0 0 GPR148 344561 broad.mit.edu 37 2 131486884 131486884 + Missense_Mutation SNP C C T rs142929079 TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:131486884C>T uc002trv.1 + 1 162 c.160C>T c.(160-162)CTT>TTT p.L54F NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 54 Helical; Name=1; (Potential). CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) CTGGCTTTTCCTTCCCTCAAG 0.632 NA 3 50 0 0 0.004672 0 0 FAM123C 205147 broad.mit.edu 37 2 131521386 131521386 + Nonsense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:131521386G>T uc002trw.2 + 2 1931 c.1741G>T c.(1741-1743)GAG>TAG p.E581* FAM123C_uc010fmv.2_Nonsense_Mutation_p.E581*|FAM123C_uc010fms.1_Nonsense_Mutation_p.E581*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.E581*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.E581* NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 581 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GCTCGCCGGAGAGAGCAAGGC 0.657 NA 7 57 2.0095e-06 2.83299e-06 0.001984 1 0 PKP4 8502 broad.mit.edu 37 2 159488326 159488326 + Silent SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:159488326G>T uc002tzv.2 + 8 1475 c.1215G>T c.(1213-1215)GTG>GTT p.V405V PKP4_uc002tzt.1_Silent_p.V257V|PKP4_uc002tzu.2_Silent_p.V405V|PKP4_uc002tzw.2_Silent_p.V405V|PKP4_uc002tzx.2_Silent_p.V63V|PKP4_uc002tzy.1_Silent_p.V63V|PKP4_uc002tzz.1_Silent_p.V403V|PKP4_uc002uaa.2_Silent_p.V257V NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 405 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 GTTCTGCCGTGTCTCCCGACT 0.498 NA HNSCC(62;0.18) 17 138 1.99824e-07 2.98322e-07 0.00499 1 0 SCRN3 79634 broad.mit.edu 37 2 175265748 175265748 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:175265748A>T uc002uiq.2 + 4 460 c.372A>T c.(370-372)GAA>GAT p.E124D SCRN3_uc010zen.1_Missense_Mutation_p.E117D|SCRN3_uc010zeo.1_Intron NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 124 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) ATACAGCTGAAAAAGCCCTCA 0.313 NA 4 22 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179544735 179544735 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:179544735C>T uc010zfg.1 - 137 29958 c.29734G>A c.(29734-29736)GAG>AAG p.E9912K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6573K|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10839 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) ACAACTTCCTCTTCAAAGGCA 0.373 NA 10 72 0 0 0.000978 0 0 TTN 7273 broad.mit.edu 37 2 179560074 179560074 + Splice_Site SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:179560074C>A uc010zfg.1 - 112 27762 c.27538_splice c.e112+1 p.V9180_splice TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.V5841_splice|TTN_uc010fre.1_Splice_Site_p.V291_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 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) TAATTACTTACCTTTAGGAGG 0.358 NA 7 99 0.00198382 0.00247684 0.001984 1 0 ITGA4 3676 broad.mit.edu 37 2 182339792 182339792 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:182339792T>A uc002unu.2 + 3 1188 c.425T>A c.(424-426)GTG>GAG p.V142E ITGA4_uc010zfl.1_Missense_Mutation_p.V142E NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 142 FG-GAP 2.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GGATCCATCGTGGTAGGTATT 0.448 NA 5 34 0 0 0.000602 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802546 185802546 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:185802546C>T uc002uph.2 + 4 3017 c.2423C>T c.(2422-2424)CCT>CTT p.P808L NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 808 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CCCTGCAAGCCTAAAAAGAAA 0.388 NA 15 97 0 0 0.004007 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693457 187693457 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:187693457C>T uc002upu.1 - 9 1196 c.1156G>A c.(1156-1158)GGA>AGA p.G386R NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 386 RING-type 2. apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ATAACTTGTCCATCAATAGGG 0.348 NA 4 27 0 0 0.000248 0 0 COL5A2 1290 broad.mit.edu 37 2 189929292 189929292 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:189929292T>A uc002uqk.2 - 25 1982 c.1707A>T c.(1705-1707)CCA>CCT p.P569P COL5A2_uc010frx.2_Silent_p.P145P NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 569 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCCGAGCACCTGGAAGCCCAG 0.512 NA 10 59 0 0 0.008291 0 0 SATB2 23314 broad.mit.edu 37 2 200246493 200246493 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:200246493C>A uc002uuy.1 - 4 1214 c.397G>T c.(397-399)GAT>TAT p.D133Y SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.D133Y|SATB2_uc002uva.1_Missense_Mutation_p.D133Y NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 133 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TCGGGTGCATCTGTCACATAA 0.433 Colon(30;262 767 11040 24421 36230) NA 5 65 1.23904e-05 1.69033e-05 0.000602 1 0 ZDBF2 57683 broad.mit.edu 37 2 207169464 207169464 + Missense_Mutation SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:207169464T>C uc002vbp.2 + 5 462 c.212T>C c.(211-213)GTG>GCG p.V71A NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 71 nucleic acid binding|zinc ion binding ovary(3) 3 GAGACACATGTGAATACTGGG 0.373 NA 6 57 0 0 0.001168 0 0 FAM119A 151194 broad.mit.edu 37 2 208489097 208489097 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:208489097C>T uc002vcf.2 - 2 163 c.3G>A c.(1-3)ATG>ATA p.M1I FAM119A_uc002vce.2_Missense_Mutation_p.M1I|FAM119A_uc010fuk.1_Missense_Mutation_p.M1I|FAM119A_uc002vcg.3_Missense_Mutation_p.M1I NM_145280 NP_660323 Q8WXB1 MT21A_HUMAN hypothetical protein LOC151194 1 integral to membrane methyltransferase activity 0 LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135) GCACGAGGGCCATTCCGCCTG 0.522 NA 7 61 0 0 0.004482 0 0 MAP2 4133 broad.mit.edu 37 2 210560774 210560774 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:210560774G>T uc002vde.1 + 7 4128 c.3880G>T c.(3880-3882)GTA>TTA p.V1294L MAP2_uc002vdc.1_Missense_Mutation_p.V1294L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.V1290L NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1294 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTTCATCACTGTAGTGCAAAC 0.527 Pancreas(27;423 979 28787 29963) NA 24 103 9.95505e-16 1.68942e-15 0.002299 1 0 ERBB4 2066 broad.mit.edu 37 2 212576896 212576896 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:212576896C>A uc002veg.1 - 9 1101 c.1003G>T c.(1003-1005)GAT>TAT p.D335Y ERBB4_uc002veh.1_Missense_Mutation_p.D335Y|ERBB4_uc010zji.1_Missense_Mutation_p.D335Y|ERBB4_uc010zjj.1_Missense_Mutation_p.D335Y|ERBB4_uc010fut.1_Missense_Mutation_p.D335Y NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 335 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CCAATGCCATCACAAGCTGTA 0.353 NA TSP Lung(8;0.080) 7 45 0.00198382 0.00247684 0.001984 1 0 PNKD 25953 broad.mit.edu 37 2 219206749 219206749 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:219206749C>G uc002vhn.2 + 7 807 c.663C>G c.(661-663)ATC>ATG p.I221M PNKD_uc002vhq.2_Missense_Mutation_p.I197M NM_015488 NP_056303 Q8N490 PNKD_HUMAN myofibrillogenesis regulator 1 isoform 1 221 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCTTCAGATCCGGGCCCTGG 0.602 NA 7 58 0 0 0.00308 0 0 C2orf52 151477 broad.mit.edu 37 2 232373893 232373893 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:232373893C>G uc002vrx.1 - 3 526 c.198G>C c.(196-198)AGG>AGC p.R66S NR_024079 RecName: Full=Uncharacterized protein C2orf52; 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;5.72e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) ACTCACTGTTCCTGTCTTCAT 0.502 NA 17 275 0 0 0.00499 0 0 UGT1A5 54579 broad.mit.edu 37 2 234681013 234681013 + Silent SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:234681013C>G uc002vuw.2 + 5 1413 c.1413C>G c.(1411-1413)GGC>GGG p.G471G UGT1A8_uc002vup.2_Silent_p.G467G|UGT1A10_uc002vur.2_Silent_p.G467G|UGT1A9_uc002vus.2_Silent_p.G467G|UGT1A7_uc002vut.2_Silent_p.G467G|UGT1A6_uc002vuu.2_Silent_p.G202G|UGT1A6_uc002vuv.3_Silent_p.G469G|UGT1A4_uc002vux.2_Silent_p.G471G|UGT1A3_uc002vuy.2_Silent_p.G471G|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Silent_p.G470G NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 471 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GGCACAAGGGCGCGCCACACC 0.627 NA 10 120 0 0 0.008291 0 0 COL6A3 1293 broad.mit.edu 37 2 238283131 238283131 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr2:238283131G>C uc002vwl.2 - 8 3888 c.3603C>G c.(3601-3603)ATC>ATG p.I1201M COL6A3_uc002vwo.2_Missense_Mutation_p.I995M|COL6A3_uc010znj.1_Missense_Mutation_p.I594M|COL6A3_uc002vwq.2_Missense_Mutation_p.I995M|COL6A3_uc002vwr.2_Missense_Mutation_p.I794M NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1201 Nonhelical region.|VWFA 6. 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) CCCTCTCAGAGATGACCTGTT 0.612 NA 6 51 0 0 0.001168 0 0 BMP2 650 broad.mit.edu 37 20 6759046 6759046 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr20:6759046C>G uc002wmu.1 + 3 1286 c.501C>G c.(499-501)TTC>TTG p.F167L NM_001200 NP_001191 P12643 BMP2_HUMAN bone morphogenetic protein 2 preproprotein 167 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding ovary(1)|breast(1) 2 Simvastatin(DB00641) ATAGCAGTTTCCATCACCGAA 0.413 NA 5 64 0 0 0.001168 0 0 ANKRD5 63926 broad.mit.edu 37 20 10030676 10030676 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr20:10030676G>A uc002wno.2 + 7 1852 c.1459G>A c.(1459-1461)GAT>AAT p.D487N uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.D487N|ANKRD5_uc010gbz.2_Missense_Mutation_p.D298N NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 487 calcium ion binding ovary(1)|breast(1) 2 TTGGTACATTGATGATTCAGA 0.398 NA 41 119 0 0 0.00874 0 0 C20orf26 26074 broad.mit.edu 37 20 20051546 20051546 + Silent SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr20:20051546C>A uc002wru.2 + 3 268 c.192C>A c.(190-192)ATC>ATA p.I64I C20orf26_uc010gcw.1_Silent_p.I18I|C20orf26_uc010zse.1_Silent_p.I64I|C20orf26_uc010zsf.1_Silent_p.I64I NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 64 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) AGGAGGAGATCATGGCCCAGG 0.488 NA 6 52 0.00116845 0.00148222 0.001168 1 0 CTCFL 140690 broad.mit.edu 37 20 56093924 56093924 + Missense_Mutation SNP C C T rs143392924 TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr20:56093924C>T uc010gix.1 - 4 1611 c.949G>A c.(949-951)GAC>AAC p.D317N CTCFL_uc010giw.1_Missense_Mutation_p.D317N|CTCFL_uc002xym.2_Missense_Mutation_p.D317N|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.D317N|CTCFL_uc010gjb.1_Missense_Mutation_p.D317N|CTCFL_uc010gjc.1_Missense_Mutation_p.D317N|CTCFL_uc010gjd.1_Missense_Mutation_p.D317N|CTCFL_uc010gje.2_Missense_Mutation_p.D317N|CTCFL_uc010gjf.2_Missense_Mutation_p.D112N|CTCFL_uc010gjg.2_Missense_Mutation_p.D49N|CTCFL_uc010gjh.1_Missense_Mutation_p.D317N|CTCFL_uc010gji.1_Missense_Mutation_p.D112N|CTCFL_uc010gjj.1_Missense_Mutation_p.D317N|CTCFL_uc010gjk.1_Missense_Mutation_p.D317N|CTCFL_uc010gjl.1_Missense_Mutation_p.D317N NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 317 C2H2-type 3. cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.D317N(1) ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) ATGTTGCAGTCGTTACACTTG 0.398 NA 23 67 0 0 0.00278 0 0 ZNF831 128611 broad.mit.edu 37 20 57769634 57769634 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr20:57769634G>T uc002yan.2 + 1 3560 c.3560G>T c.(3559-3561)TGC>TTC p.C1187F NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1187 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) ACGTGGTGTTGCCTGAGCCGC 0.642 NA 21 20 3.8784e-16 6.61733e-16 0.001882 1 0 LIPI 149998 broad.mit.edu 37 21 15561477 15561477 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr21:15561477C>G uc002yjm.2 - 2 383 c.373G>C c.(373-375)GAA>CAA p.E125Q LIPI_uc010gkw.1_Missense_Mutation_p.E58Q NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 104 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTCATATCTTCTTCATTCAGC 0.393 NA 10 62 0 0 0.006214 0 0 KRTAP19-7 337974 broad.mit.edu 37 21 31933508 31933508 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr21:31933508C>A uc011adb.1 - 1 101 c.101G>T c.(100-102)AGA>ATA p.R34I NM_181614 NP_853645 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 34 intermediate filament 0 ATAGCCCAGTCTGCGGAAGCT 0.537 NA 26 131 2.41591e-17 4.2013e-17 0.004656 1 0 SYNJ1 8867 broad.mit.edu 37 21 34017287 34017287 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr21:34017287C>G uc002yqh.2 - 26 3538 c.3538G>C c.(3538-3540)GAA>CAA p.E1180Q SYNJ1_uc011ads.1_Intron|SYNJ1_uc002yqf.2_Missense_Mutation_p.E1141Q|SYNJ1_uc002yqg.2_Intron|SYNJ1_uc002yqi.2_Missense_Mutation_p.E1180Q|SYNJ1_uc002yqe.3_5'Flank NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1141 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 CCTCCAAATTCCTTTCTAGTG 0.343 NA 7 87 0 0 0.001984 0 0 PCBP3 54039 broad.mit.edu 37 21 47361589 47361589 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr21:47361589C>T uc002zhq.1 + 14 1210 c.1085C>T c.(1084-1086)ACG>ATG p.T362M PCBP3_uc002zhp.1_Missense_Mutation_p.T342M|PCBP3_uc002zhs.1_Missense_Mutation_p.T336M|PCBP3_uc002zhr.1_Missense_Mutation_p.T361M|PCBP3_uc002zht.1_Missense_Mutation_p.T352M NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 362 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TCCAGGCTGACGTCCGAGGTC 0.652 NA 14 52 0 0 0.00245 0 0 SEZ6L 23544 broad.mit.edu 37 22 26690269 26690269 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr22:26690269G>A uc003acb.2 + 3 1003 c.847G>A c.(847-849)GTG>ATG p.V283M SEZ6L_uc003acc.2_Missense_Mutation_p.V283M|SEZ6L_uc011akc.1_Missense_Mutation_p.V283M|SEZ6L_uc003acd.2_Missense_Mutation_p.V283M|SEZ6L_uc011akd.1_Missense_Mutation_p.V283M|SEZ6L_uc003ace.2_Missense_Mutation_p.V283M|SEZ6L_uc003acf.1_Missense_Mutation_p.V56M|SEZ6L_uc010gvc.1_Missense_Mutation_p.V56M NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 283 CUB 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 TCTCTGCAGTGTGAGCTTCTC 0.517 NA 24 128 0 0 0.005443 0 0 DDX17 10521 broad.mit.edu 37 22 38890696 38890696 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr22:38890696T>A uc003avy.3 - 8 1256 c.1153A>T c.(1153-1155)AGT>TGT p.S385C DDX17_uc003avx.3_Missense_Mutation_p.S385C|DDX17_uc011anu.1_Missense_Mutation_p.S298C NM_001098504 NP_001091974 Q92841 DDX17_HUMAN DEAD box polypeptide 17 isoform 3 306 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity skin(3)|upper_aerodigestive_tract(1) 4 Melanoma(58;0.0286) TGGTTGGCACTCAACTCCAGA 0.428 Ovarian(55;1085 1454 6392 21425) NA 39 100 0 0 0.004289 0 0 CHL1 10752 broad.mit.edu 37 3 447299 447299 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:447299G>T uc003bou.2 + 27 3803 c.3532G>T c.(3532-3534)GAT>TAT p.D1178Y CHL1_uc003bot.2_Missense_Mutation_p.D1194Y|CHL1_uc011asi.1_Missense_Mutation_p.D1141Y NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1178 Cytoplasmic (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTTCAGTGAAGATGGATCATT 0.468 NA 8 61 7.48243e-07 1.08633e-06 0.006214 1 0 WNT7A 7476 broad.mit.edu 37 3 13896097 13896097 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:13896097C>A uc003bye.1 - 3 807 c.502G>T c.(502-504)GAT>TAT p.D168Y NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 168 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 TCCCGGGCATCCACAAAGACC 0.622 NA 24 130 4.26978e-12 6.93018e-12 0.00333 1 0 OXSM 54995 broad.mit.edu 37 3 25833258 25833258 + Silent SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:25833258C>G uc003cdn.2 + 2 854 c.747C>G c.(745-747)TCC>TCG p.S249S NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_Intron|OXSM_uc010hfh.2_Intron NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 249 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 CTGGGTTTTCCAGAGCCCGGG 0.478 NA 16 134 0 0 0.003163 0 0 NEK10 152110 broad.mit.edu 37 3 27332233 27332233 + Missense_Mutation SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:27332233T>G uc003cdt.1 - 20 1892 c.1618A>C c.(1618-1620)AGT>CGT p.S540R NEK10_uc003cds.1_Intron NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 540 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TTTTGACCACTATGCTTTCTA 0.348 NA 4 50 0 0 0.001984 0 0 LRRC2 79442 broad.mit.edu 37 3 46592962 46592962 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:46592962C>A uc010hji.2 - 2 484 c.120G>T c.(118-120)TTG>TTT p.L40F LRRC2_uc003cpu.3_Missense_Mutation_p.L40F NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 40 ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) CGTACTTCTCCAAGGCGCTCT 0.468 NA 6 95 3.59834e-05 4.82573e-05 0.001168 1 0 SMARCC1 6599 broad.mit.edu 37 3 47752263 47752263 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:47752263G>A uc003crq.2 - 9 946 c.828C>T c.(826-828)TTC>TTT p.F276F SMARCC1_uc011bbd.1_Silent_p.F167F NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 276 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TCCATTCATTGAAAATATCAG 0.338 NA 5 67 0 0 0.000602 0 0 COL7A1 1294 broad.mit.edu 37 3 48620085 48620085 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:48620085C>A uc003ctz.2 - 44 4521 c.4520G>T c.(4519-4521)GGG>GTG p.G1507V NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1507 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCTGGCAGCCCCTGGAGGAG 0.637 NA 7 31 0.00198382 0.00247684 0.001984 1 0 NCKIPSD 51517 broad.mit.edu 37 3 48718899 48718899 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:48718899C>T uc003cun.2 - 5 1007 c.913G>A c.(913-915)GAG>AAG p.E305K NCKIPSD_uc003cum.2_Missense_Mutation_p.E298K|NCKIPSD_uc010hkh.1_Missense_Mutation_p.E305K NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain isoform 305 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACAGCCGCCTCAGCTGCTGCC 0.602 NA 8 52 0 0 0.004482 0 0 RBM6 10180 broad.mit.edu 37 3 50005024 50005024 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:50005024G>A uc003cyc.2 + 3 299 c.166G>A c.(166-168)GAT>AAT p.D56N RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 56 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ACTTCCCTTTGATTTCCAGGG 0.527 NA 13 133 0 0 0.001855 0 0 STAB1 23166 broad.mit.edu 37 3 52550187 52550187 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:52550187C>A uc003dej.2 + 38 4151 c.4077C>A c.(4075-4077)CAC>CAA p.H1359Q STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1359 Laminin EGF-like 1.|Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCACTGCCACGAGGGCTTCC 0.701 NA 7 38 5.18039e-06 7.1912e-06 0.00308 1 0 ARHGEF3 50650 broad.mit.edu 37 3 56771215 56771215 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:56771215C>A uc003dig.2 - 8 1208 c.1039G>T c.(1039-1041)GTG>TTG p.V347L ARHGEF3_uc011bew.1_Missense_Mutation_p.V347L|ARHGEF3_uc003dih.2_Missense_Mutation_p.V379L|ARHGEF3_uc011bev.1_Missense_Mutation_p.V318L|ARHGEF3_uc003dif.2_Missense_Mutation_p.V353L|ARHGEF3_uc010hmy.1_Missense_Mutation_p.V145L|ARHGEF3_uc003dii.2_Missense_Mutation_p.V347L NM_019555 NP_062455 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 isoform 347 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) CTACTTACCACGCCCCGATTG 0.473 NA 8 94 3.09899e-07 4.56199e-07 0.004482 1 0 CNTN3 5067 broad.mit.edu 37 3 74334570 74334570 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:74334570C>A uc003dpm.1 - 19 2670 c.2590G>T c.(2590-2592)GCC>TCC p.A864S NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 864 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CGTAGTCTGGCTGATGTCTCA 0.547 NA 20 167 1.87028e-06 2.66042e-06 0.001882 1 0 CD86 942 broad.mit.edu 37 3 121825068 121825068 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:121825068G>A uc003eet.2 + 4 540 c.424G>A c.(424-426)GTA>ATA p.V142I CD86_uc011bjo.1_Missense_Mutation_p.V60I|CD86_uc011bjp.1_Missense_Mutation_p.V30I|CD86_uc003eeu.2_Missense_Mutation_p.V136I NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 142 Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) ACCTGAAATAGTACCAATTTC 0.338 GBM(67;1379 1389 36064 39806) NA 8 33 0 0 0.00308 0 0 KALRN 8997 broad.mit.edu 37 3 124201673 124201673 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:124201673G>A uc003ehg.2 + 28 4331 c.4204G>A c.(4204-4206)GGT>AGT p.G1402S KALRN_uc010hrv.1_Missense_Mutation_p.G1393S|KALRN_uc003ehf.1_Missense_Mutation_p.G1402S|KALRN_uc011bjy.1_Missense_Mutation_p.G1393S|KALRN_uc003ehh.1_Missense_Mutation_p.G748S NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1402 DH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 ACAGCGGCATGGTCTGGCCAA 0.512 NA 23 117 0 0 0.00278 0 0 GRK7 131890 broad.mit.edu 37 3 141535733 141535733 + Silent SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:141535733T>C uc011bnd.1 + 4 1587 c.1503T>C c.(1501-1503)GAT>GAC p.D501D NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 501 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 ATGACAAAGATAAGCAGTTCT 0.443 NA 27 152 0 0 0.007291 0 0 TNIK 23043 broad.mit.edu 37 3 170819320 170819320 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:170819320C>T uc003fhh.2 - 22 2854 c.2509G>A c.(2509-2511)GAA>AAA p.E837K TNIK_uc003fhi.2_Missense_Mutation_p.E782K|TNIK_uc003fhj.2_Missense_Mutation_p.E808K|TNIK_uc003fhk.2_Missense_Mutation_p.E829K|TNIK_uc003fhl.2_Missense_Mutation_p.E753K|TNIK_uc003fhm.2_Missense_Mutation_p.E774K|TNIK_uc003fhn.2_Missense_Mutation_p.E800K|TNIK_uc003fho.2_Missense_Mutation_p.E745K|TNIK_uc003fhg.2_Missense_Mutation_p.E15K NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 837 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCGCTACTTTCTGACTCCTCA 0.483 NA 29 295 0 0 0.00632 0 0 ZMAT3 64393 broad.mit.edu 37 3 178785371 178785371 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:178785371C>A uc003fjg.2 - 2 429 c.170G>T c.(169-171)GGG>GTG p.G57V ZMAT3_uc010hxa.2_Missense_Mutation_p.G57V|ZMAT3_uc003fji.2_Missense_Mutation_p.G57V NM_022470 NP_071915 Q9HA38 ZMAT3_HUMAN p53 target zinc finger protein isoform 1 57 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding ovary(2) 2 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) GTCTTGCTCCCCTCCCTTCGA 0.547 NA 29 116 4.87955e-14 8.19299e-14 0.005443 1 0 KLHL6 89857 broad.mit.edu 37 3 183211915 183211915 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:183211915T>A uc003flr.2 - 5 1360 c.1302A>T c.(1300-1302)AGA>AGT p.R434S KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 434 Kelch 3. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CATTGTTGATTCTCTGTAAGC 0.463 NA 25 215 0 0 0.005443 0 0 TP63 8626 broad.mit.edu 37 3 189612133 189612133 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:189612133G>T uc003fry.2 + 14 1974 c.1885G>T c.(1885-1887)GGC>TGC p.G629C TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.G535C|TP63_uc003fsd.2_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.G450C NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 629 Transactivation inhibition. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AGTCAGTGTGGGCTCCAGTGA 0.582 NA Hay-Wells_syndrome HNSCC(45;0.13) 18 91 1.33834e-09 2.09695e-09 0.007413 1 0 UTS2D 257313 broad.mit.edu 37 3 190993124 190993124 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:190993124A>G uc003fsu.2 - 8 1038 c.251T>C c.(250-252)CTA>CCA p.L84P NM_198152 NP_937795 Q765I0 UTS2B_HUMAN urotensin 2 domain containing precursor 84 extracellular region hormone activity 0 all_cancers(143;1.77e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000214) CTGTTCTTTTAGCTTTTCCAG 0.299 NA 20 101 0 0 0.001523 0 0 GP5 2814 broad.mit.edu 37 3 194118856 194118856 + Silent SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:194118856G>C uc003ftv.1 - 2 187 c.156C>G c.(154-156)CTC>CTG p.L52L NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 52 Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GGATGTGCGTGAGGTTGGTGG 0.677 NA 12 70 0 0 0.001368 0 0 TLR1 7096 broad.mit.edu 37 4 38799759 38799759 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:38799759A>G uc003gtl.2 - 4 968 c.694T>C c.(694-696)TAC>CAC p.Y232H NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 232 Extracellular (Potential). cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 CTTAGGAAGTAAGAACATTTG 0.313 GBM(5;216 373 40795 46382) NA 4 60 0 0 0.000248 0 0 FAM114A1 92689 broad.mit.edu 37 4 38893400 38893400 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:38893400G>T uc003gtn.2 + 4 561 c.385G>T c.(385-387)GGC>TGC p.G129C FAM114A1_uc011byh.1_Translation_Start_Site NM_138389 NP_612398 Q8IWE2 NXP20_HUMAN hypothetical protein LOC92689 129 cytoplasm ovary(1) 1 AGGATGGGCAGGCTGGGGATC 0.463 NA 18 61 3.41278e-10 5.41426e-10 0.00499 1 0 LRRC66 339977 broad.mit.edu 37 4 52861433 52861433 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:52861433T>A uc003gzi.2 - 4 1768 c.1755A>T c.(1753-1755)ACA>ACT p.T585T NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 585 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 AGAGGGAAGCTGTTATTTCTC 0.507 NA 12 181 0 0 0.001368 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182101 57182101 + Silent SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:57182101G>T uc003hbk.2 + 8 2824 c.2433G>T c.(2431-2433)GTG>GTT p.V811V KIAA1211_uc010iha.2_Silent_p.V804V|KIAA1211_uc011bzz.1_Silent_p.V721V|KIAA1211_uc003hbm.1_Silent_p.V697V NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 811 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) AGAAAGTGGTGGCCCACACAG 0.582 NA 7 48 8.12818e-05 0.000106968 0.001984 1 0 UGT2B7 7364 broad.mit.edu 37 4 69962775 69962775 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:69962775T>A uc003heg.3 + 1 583 c.537T>A c.(535-537)ACT>ACA p.T179T UGT2B7_uc010ihq.2_Silent_p.T179T NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 179 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 CTGGCTACACTTTTGAAAAGC 0.403 NA 37 149 0 0 0.004289 0 0 ODAM 54959 broad.mit.edu 37 4 71062448 71062448 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:71062448G>A uc003hfc.2 + 2 108 c.91G>A c.(91-93)GAG>AAG p.E31K NM_017855 NP_060325 A1E959 ODAM_HUMAN odontogenic ameloblast-associated protein 31 biomineral tissue development|odontogenesis of dentine-containing tooth fibril ovary(3)|large_intestine(1) 4 CAATAGCAATGAGGTTAGTTT 0.323 NA 4 36 0 0 0.000602 0 0 CCDC158 339965 broad.mit.edu 37 4 77300479 77300479 + Silent SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:77300479A>G uc003hkb.3 - 8 1146 c.993T>C c.(991-993)TCT>TCC p.S331S CCDC158_uc003hkd.2_Silent_p.S331S NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 331 Potential. skin(3)|ovary(2)|pancreas(1) 6 CCCTTAATTCAGAACGTAGCT 0.383 NA 3 81 0 0 0.000602 0 0 SEC31A 22872 broad.mit.edu 37 4 83791564 83791564 + Missense_Mutation SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:83791564T>C uc003hnf.2 - 8 960 c.796A>G c.(796-798)ATT>GTT p.I266V SEC31A_uc003hne.2_Missense_Mutation_p.I38V|SEC31A_uc011ccl.1_Missense_Mutation_p.I266V|SEC31A_uc003hnl.2_Missense_Mutation_p.I266V|SEC31A_uc003hng.2_Missense_Mutation_p.I266V|SEC31A_uc003hnh.2_Missense_Mutation_p.I266V|SEC31A_uc003hni.2_Missense_Mutation_p.I266V|SEC31A_uc003hnj.2_Missense_Mutation_p.I266V|SEC31A_uc011ccm.1_Missense_Mutation_p.I261V|SEC31A_uc011ccn.1_Missense_Mutation_p.I266V|SEC31A_uc003hnk.2_Missense_Mutation_p.I266V|SEC31A_uc003hnm.2_Missense_Mutation_p.I266V|SEC31A_uc003hnn.1_Missense_Mutation_p.I266V|SEC31A_uc003hno.2_Missense_Mutation_p.I266V NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 266 Interaction with SEC13.|WD 5. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) CTCCAAGCAATTGCCAAAATC 0.388 NA 7 118 0 0 0.00308 0 0 GRID2 2895 broad.mit.edu 37 4 94690553 94690553 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:94690553G>A uc011cdt.1 + 15 2811 c.2553G>A c.(2551-2553)CTG>CTA p.L851L GRID2_uc011cdu.1_Silent_p.L756L NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 851 Helical; (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TAGCCATGCTGGAGACGTGGT 0.483 NA 12 83 0 0 0.001368 0 0 SGMS2 166929 broad.mit.edu 37 4 108817064 108817064 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:108817064G>T uc003hyl.3 + 3 910 c.355G>T c.(355-357)GAT>TAT p.D119Y uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.D119Y|SGMS2_uc003hyo.2_Missense_Mutation_p.D119Y NM_001136258 NP_001129730 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 119 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) CAAGTTTTTTGATTACATTGA 0.423 NA 9 79 0.000274275 0.000355043 0.004482 1 0 METTL14 57721 broad.mit.edu 37 4 119631390 119631390 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:119631390G>A uc003icf.2 + 11 1420 c.1304G>A c.(1303-1305)CGA>CAA p.R435Q METTL14_uc003icg.2_Missense_Mutation_p.R397Q NM_020961 NP_066012 Q9HCE5 MTL14_HUMAN methyltransferase like 14 435 Gly-rich. nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity 0 TCTAACTTCCGAGGAGAAAGA 0.517 NA 4 53 0 0 0.000602 0 0 KIAA1109 84162 broad.mit.edu 37 4 123234842 123234842 + Nonsense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:123234842G>T uc003ieh.2 + 58 10357 c.10312G>T c.(10312-10314)GAA>TAA p.E3438* KIAA1109_uc003iel.1_Nonsense_Mutation_p.E1373* NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3438 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGCAGCAGCTGGTAGGTTCAC 0.353 NA 13 75 7.93312e-07 1.14129e-06 0.00245 1 0 FAT4 79633 broad.mit.edu 37 4 126242685 126242685 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:126242685G>T uc003ifj.3 + 1 5119 c.5119G>T c.(5119-5121)GTG>TTG p.V1707L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1707 Cadherin 16.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCTTTACCTGGTGGATGTTTA 0.398 NA 6 79 0.00116845 0.00148222 0.001168 1 0 INPP4B 8821 broad.mit.edu 37 4 143045852 143045852 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:143045852C>T uc003iix.3 - 20 2377 c.1782G>A c.(1780-1782)GTG>GTA p.V594V INPP4B_uc003iiw.3_Silent_p.V594V|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.V409V|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.V465V NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 594 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) CTCGGTTCACCACTTCTCCCA 0.517 NA 9 55 0 0 0.004482 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504238 151504238 + Silent SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:151504238C>G uc003ilw.2 + 1 1162 c.57C>G c.(55-57)CGC>CGG p.R19R LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 19 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) ACACTGAGCGCTGTCAGGCGC 0.592 NA 9 22 0 0 0.006214 0 0 MAP9 79884 broad.mit.edu 37 4 156273864 156273864 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:156273864C>G uc003ios.2 - 13 1969 c.1705G>C c.(1705-1707)GCT>CCT p.A569P MAP9_uc011cin.1_Missense_Mutation_p.A544P|MAP9_uc010iqa.1_RNA NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 569 Potential. cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) TTGAAAAAAGCTTCCTTTTTT 0.189 NA 8 40 0 0 0.00308 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618236 156618236 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:156618236A>G uc003iov.2 + 4 753 c.217A>G c.(217-219)ACT>GCT p.T73A GUCY1A3_uc003iou.2_Missense_Mutation_p.T73A|GUCY1A3_uc010iqc.2_Missense_Mutation_p.T73A|GUCY1A3_uc003iow.2_Missense_Mutation_p.T73A|GUCY1A3_uc010iqd.2_Missense_Mutation_p.T73A|GUCY1A3_uc003iox.2_Missense_Mutation_p.T73A|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.T73A|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.T73A NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 73 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CTATCTTCACACTTTGGCAGA 0.398 NA 8 98 0 0 0.004482 0 0 FSTL5 56884 broad.mit.edu 37 4 162463837 162463837 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:162463837C>A uc003iqh.2 - 9 1460 c.1024G>T c.(1024-1026)GTC>TTC p.V342F FSTL5_uc003iqi.2_Missense_Mutation_p.V341F|FSTL5_uc010iqv.2_Missense_Mutation_p.V341F NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 342 Ig-like 2. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ACCCGGATGACTGGAGGAACT 0.393 NA 19 47 5.03518e-11 8.1101e-11 0.007413 1 0 AGA 175 broad.mit.edu 37 4 178361559 178361559 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:178361559C>T uc003iuu.1 - 2 211 c.149G>A c.(148-150)GGA>GAA p.G50E AGA_uc003iuv.1_5'Flank|AGA_uc003iuw.2_5'Flank NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor 50 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) GGCAGAGCCTCCAGATGCTAA 0.453 NA 4 118 0 0 0.000602 0 0 LPCAT1 79888 broad.mit.edu 37 5 1494959 1494959 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:1494959C>A uc003jcm.2 - 3 466 c.349G>T c.(349-351)GTG>TTG p.V117L NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 117 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) CGCCCCTTCACGGCCACCCGG 0.672 NA 6 61 0.00116845 0.00148222 0.001168 1 0 IRX1 79192 broad.mit.edu 37 5 3599846 3599846 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:3599846G>T uc003jde.2 + 2 836 c.784G>T c.(784-786)GCC>TCC p.A262S NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 262 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 TTCTGCTCTTGCCCGGGACCA 0.682 NA 15 46 2.32078e-09 3.6273e-09 0.003163 1 0 ADCY2 108 broad.mit.edu 37 5 7789797 7789797 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:7789797T>A uc003jdz.1 + 20 2579 c.2512T>A c.(2512-2514)TTC>ATC p.F838I ADCY2_uc011cmo.1_Missense_Mutation_p.F658I|ADCY2_uc010itm.1_Missense_Mutation_p.F34I NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 838 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GAAGAACAAATTCAAAAAAGA 0.483 NA 8 275 0 0 0.006214 0 0 DNAH5 1767 broad.mit.edu 37 5 13737491 13737491 + Silent SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:13737491C>A uc003jfd.2 - 66 11367 c.11325G>T c.(11323-11325)CTG>CTT p.L3775L DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3775 Potential.|AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CATCTTCTACCAGGGACCCCT 0.433 NA Kartagener_syndrome 46 241 1.47857e-17 2.59982e-17 0.00361 1 0 TRIO 7204 broad.mit.edu 37 5 14479403 14479403 + Nonsense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:14479403C>T uc003jff.2 + 42 6193 c.6187C>T c.(6187-6189)CAA>TAA p.Q2063* TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Nonsense_Mutation_p.Q1712* NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2063 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AGCTTATTGTCAAAATAAACC 0.343 NA 11 161 0 0 0.000978 0 0 CDH18 1016 broad.mit.edu 37 5 19747105 19747105 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:19747105G>T uc003jgc.2 - 3 846 c.469C>A c.(469-471)CCA>ACA p.P157T CDH18_uc003jgd.2_Missense_Mutation_p.P157T|CDH18_uc011cnm.1_Missense_Mutation_p.P157T NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 157 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GTGAATTTTGGAGCGTTGTCA 0.363 NA 93 121 6.78661e-64 1.24882e-63 0.00361 1 0 CDH12 1010 broad.mit.edu 37 5 21975400 21975400 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:21975400C>A uc010iuc.2 - 3 784 c.326G>T c.(325-327)GGG>GTG p.G109V CDH12_uc011cno.1_Missense_Mutation_p.G109V|CDH12_uc003jgk.2_Missense_Mutation_p.G109V NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 109 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 ATGAATGTCCCCTGTGGTTTC 0.493 NA HNSCC(59;0.17) 58 171 7.05995e-25 1.28788e-24 0.00361 1 0 CDH9 1007 broad.mit.edu 37 5 26902655 26902655 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:26902655C>A uc003jgs.1 - 7 1352 c.1183G>T c.(1183-1185)GAT>TAT p.D395Y NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 395 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TCCTTTACATCTTCATCTACT 0.368 Melanoma(8;187 585 15745 40864 52829) NA 62 93 4.96213e-28 9.10444e-28 0.00361 1 0 CDH9 1007 broad.mit.edu 37 5 26906079 26906079 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:26906079C>T uc003jgs.1 - 5 969 c.800G>A c.(799-801)CGA>CAA p.R267Q CDH9_uc010iug.2_Missense_Mutation_p.R267Q NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 267 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CTGGGGAAATCGAGGAGGGTT 0.428 Melanoma(8;187 585 15745 40864 52829) NA 22 377 0 0 0.002299 0 0 CDH9 1007 broad.mit.edu 37 5 26988490 26988490 + Splice_Site SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:26988490C>T uc003jgs.1 - 2 121 c.-48_splice c.e2-1 CDH9_uc010iug.2_Splice_Site NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TTTGTTTTTCCTAAAGAGTAA 0.313 Melanoma(8;187 585 15745 40864 52829) NA 13 48 0 0 0.001368 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576335 33576335 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:33576335G>T uc003jia.1 - 19 3959 c.3796C>A c.(3796-3798)CGT>AGT p.R1266S ADAMTS12_uc010iuq.1_Missense_Mutation_p.R1181S NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1266 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AGGTGGTTACGGTTTGCCGTC 0.498 NA HNSCC(64;0.19) 40 505 6.97489e-18 1.23327e-17 0.004878 1 0 C5orf42 65250 broad.mit.edu 37 5 37201763 37201763 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:37201763C>T uc011cpa.1 - 19 3668 c.3437G>A c.(3436-3438)GGC>GAC p.G1146D C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.G221D|C5orf42_uc011cpb.1_Missense_Mutation_p.G27D NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1146 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGGCACTAAGCCCCACAGTCT 0.418 NA 8 203 0 0 0.004482 0 0 RICTOR 253260 broad.mit.edu 37 5 38959970 38959970 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:38959970G>A uc003jlp.2 - 21 1986 c.1962C>T c.(1960-1962)ACC>ACT p.T654T RICTOR_uc003jlo.2_Silent_p.T654T|RICTOR_uc010ivf.2_Silent_p.T369T NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 654 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) GTTGACTAAGGGTGGTCAATA 0.378 NA 18 201 0 0 0.007413 0 0 FYB 2533 broad.mit.edu 37 5 39202316 39202316 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:39202316G>T uc003jls.2 - 1 814 c.747C>A c.(745-747)GAC>GAA p.D249E FYB_uc003jlt.2_Missense_Mutation_p.D249E|FYB_uc003jlu.2_Missense_Mutation_p.D249E|FYB_uc011cpl.1_Missense_Mutation_p.D259E NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 249 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) CCCCTGCATGGTCTTTATTTT 0.493 NA 30 301 3.1745e-13 5.23296e-13 0.008361 1 0 PLCXD3 345557 broad.mit.edu 37 5 41382556 41382556 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:41382556C>A uc003jmm.1 - 2 286 c.184G>T c.(184-186)GTC>TTC p.V62F NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 62 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 AACACAGAGACAAAATTCTGG 0.448 NA 30 192 5.45727e-16 9.28616e-16 0.008361 1 0 ITGA1 3672 broad.mit.edu 37 5 52145269 52145269 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:52145269A>T uc003jou.2 + 2 184 c.132A>T c.(130-132)GAA>GAT p.E44D ITGA1_uc003jov.2_RNA NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 44 Extracellular (Potential).|FG-GAP 1. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GCCCGGTGGAAGACATGTTTG 0.358 NA 17 147 0 0 0.004007 0 0 ITGA2 3673 broad.mit.edu 37 5 52369034 52369034 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:52369034C>A uc003joy.2 + 20 2659 c.2516C>A c.(2515-2517)ACT>AAT p.T839N ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.T763N|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_Intron NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 839 Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GCATACAACACTGGAATTGTT 0.363 NA 23 391 7.41877e-09 1.1426e-08 0.001882 1 0 CDC20B 166979 broad.mit.edu 37 5 54415705 54415705 + Silent SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:54415705T>G uc003jpo.1 - 11 1558 c.1383A>C c.(1381-1383)GCA>GCC p.A461A CDC20B_uc003jpn.1_Silent_p.A461A|CDC20B_uc010ivu.1_Silent_p.A419A NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 461 WD 6. 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) CTTGACCAGTTGCAATCTCCT 0.393 NA 149 357 0 0 0.00361 0 0 DHX29 54505 broad.mit.edu 37 5 54573088 54573088 + Nonsense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:54573088G>C uc003jpx.2 - 13 2252 c.2132C>G c.(2131-2133)TCA>TGA p.S711* DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 711 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TAGGAAGTCTGACTGGACACT 0.338 NA 5 197 0 0 0.001168 0 0 MAP3K1 4214 broad.mit.edu 37 5 56160759 56160759 + Nonsense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:56160759C>T uc003jqw.3 + 4 1534 c.1033C>T c.(1033-1035)CAG>TAG p.Q345* NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 345 SWIM-type. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TATTGGGCCTCAGGTAGGATT 0.383 NA 6 66 0 0 0.001168 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940367 82940367 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:82940367G>T uc003kim.2 - 3 661 c.590C>A c.(589-591)GCC>GAC p.A197D HAPLN1_uc003kin.2_Missense_Mutation_p.A197D NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 197 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GCCCCGCCAGGCGTCGTACAG 0.612 NA 6 50 2.17888e-05 2.95972e-05 0.006214 1 0 WDR36 134430 broad.mit.edu 37 5 110459809 110459809 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:110459809A>G uc003kpd.2 + 21 2557 c.2440A>G c.(2440-2442)AAA>GAA p.K814E WDR36_uc010jbu.2_Intron NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 814 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GTTTAAGTCTAAAGTGGTAAA 0.264 NA 10 89 0 0 0.000978 0 0 KCNN2 3781 broad.mit.edu 37 5 113698885 113698885 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:113698885C>T uc003kqo.2 + 1 870 c.413C>T c.(412-414)GCG>GTG p.A138V NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 138 Helical; Name=Segment S1; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AGCGACTACGCGCTCATCTTC 0.577 NA 4 25 0 0 0.000248 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786248 121786248 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:121786248C>T uc003ksw.1 + 10 1912 c.1706C>T c.(1705-1707)TCC>TTC p.S569F SNCAIP_uc011cwl.1_Missense_Mutation_p.S127F|SNCAIP_uc003ksx.1_Missense_Mutation_p.S616F|SNCAIP_uc003ksy.1_Missense_Mutation_p.S203F|SNCAIP_uc003ksz.1_Missense_Mutation_p.S203F|SNCAIP_uc010jcu.2_Missense_Mutation_p.S165F|SNCAIP_uc011cwm.1_Missense_Mutation_p.S203F|SNCAIP_uc003kta.1_Missense_Mutation_p.S201F|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.S263F|SNCAIP_uc010jcx.1_Missense_Mutation_p.S509F|uc003ktb.1_RNA|SNCAIP_uc003ktc.1_Missense_Mutation_p.S85F NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 569 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TCACCTGCCTCCAGAAAGTCC 0.453 NA 17 212 0 0 0.006122 0 0 CDKL3 51265 broad.mit.edu 37 5 133702187 133702187 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:133702187C>A uc003kzf.3 - 2 147 c.28G>T c.(28-30)GTG>TTG p.V10L CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_Intron|CDKL3_uc003kzg.3_Missense_Mutation_p.V10L|CDKL3_uc011cxr.1_Missense_Mutation_p.V10L NM_001113575 NP_001107047 Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 isoform 1 10 ATP (By similarity).|Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCCTCTCCCACTTTTCCAAGG 0.338 NA 5 30 0.00198382 0.00247684 0.001984 1 0 DDX46 9879 broad.mit.edu 37 5 134147433 134147433 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:134147433C>T uc003kzw.2 + 18 2502 c.2334C>T c.(2332-2334)TTC>TTT p.F778F DDX46_uc003kzv.1_RNA NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 778 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTAAGGGATTCAAGTTTGATG 0.353 Colon(13;391 453 4901 21675 24897) NA 10 117 0 0 0.006214 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167047 140167048 + Missense_Mutation DNP CC CC AA TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:140167047_140167048CC>AA uc003lhb.2 + 1 1172_1173 c.1172_1173CC>AA c.(1171-1173)CCC>CAA p.P391Q PCDHA1_uc003lha.2_Missense_Mutation_p.P391Q|PCDHA1_uc003lgz.2_Missense_Mutation_p.P391Q NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 391 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTTAATGCCCCACGTCCCCT 0.584 NA 14 130 0 0 0.004672 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140306690 140306690 + Silent SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:140306690C>A uc003lih.2 + 1 389 c.213C>A c.(211-213)CCC>CCA p.P71P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.P71P NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 71 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGATCTACCCAGCGGCAATT 0.637 NA 8 50 0.00307968 0.00382243 0.00308 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554442 140554442 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:140554442G>T uc003lit.2 + 1 2200 c.2026G>T c.(2026-2028)GCG>TCG p.A676S PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 676 Extracellular (Potential). 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) GCTCCCGGAGGCGGCCCCGGA 0.692 NA 19 184 1.56452e-12 2.55903e-12 0.007413 1 0 PCDHGA11 56105 broad.mit.edu 37 5 140801457 140801457 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:140801457C>T uc003lkq.1 + 1 921 c.663C>T c.(661-663)CCC>CCT p.P221P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.P221P|PCDHGA11_uc003lkp.1_Silent_p.P221P NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 221 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGCGATCCCATCCGAAAGG 0.527 NA 7 77 0 0 0.001984 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866246 140866246 + Silent SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:140866246A>G uc003lky.1 + 1 1506 c.1506A>G c.(1504-1506)GTA>GTG p.V502V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.V502V|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 502 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCGAGATGTATCAGCTTCCT 0.537 NA 35 173 0 0 0.002836 0 0 GALNT10 55568 broad.mit.edu 37 5 153783750 153783750 + Silent SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:153783750G>T uc003lvh.2 + 8 1275 c.1143G>T c.(1141-1143)CCG>CCT p.P381P GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.P222P|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.P52P NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 381 Lumenal (Potential).|Flexible loop. 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) ACAAGGTCCCGGCCGGAGTCA 0.627 NA 11 43 6.40141e-05 8.47718e-05 0.000978 1 0 GABRB2 2561 broad.mit.edu 37 5 160763718 160763718 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:160763718T>A uc003lys.1 - 7 818 c.600A>T c.(598-600)ACA>ACT p.T200T GABRB2_uc011deh.1_Silent_p.T39T|GABRB2_uc003lyr.1_Silent_p.T200T|GABRB2_uc003lyt.1_Silent_p.T200T|GABRB2_uc010jiu.1_Silent_p.T137T NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 200 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCGTTACTCCTGTTACTGCAT 0.318 NA 19 89 0 0 0.006122 0 0 GABRG2 2566 broad.mit.edu 37 5 161524754 161524754 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:161524754G>T uc003lyz.3 + 4 796 c.438G>T c.(436-438)TGG>TGT p.W146C GABRG2_uc010jjc.2_Missense_Mutation_p.W146C|GABRG2_uc003lyy.3_Missense_Mutation_p.W146C|GABRG2_uc011dej.1_Missense_Mutation_p.W51C NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 146 Extracellular (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(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GGAAAATCTGGATTCCAGACA 0.423 NA 19 68 3.57192e-18 6.33341e-18 0.006122 1 0 ODZ2 57451 broad.mit.edu 37 5 167645439 167645439 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:167645439G>T uc010jjd.2 + 23 4516 c.4516G>T c.(4516-4518)GGG>TGG p.G1506W ODZ2_uc003lzr.3_Missense_Mutation_p.G1276W|ODZ2_uc003lzt.3_Missense_Mutation_p.G879W|ODZ2_uc010jje.2_Missense_Mutation_p.G770W NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CCTTTTAGCTGGGGCAGCCTC 0.498 NA 39 173 4.14481e-20 7.41148e-20 0.00623 1 0 DOCK2 1794 broad.mit.edu 37 5 169423144 169423144 + Silent SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:169423144A>G uc003maf.2 + 30 3128 c.3048A>G c.(3046-3048)CTA>CTG p.L1016L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.L508L NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1016 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAAGTTCCTAGAACACACGA 0.498 NA 3 76 0 0 0.004672 0 0 RANBP17 64901 broad.mit.edu 37 5 170305126 170305126 + Missense_Mutation SNP G G T rs147041695 TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:170305126G>T uc003mba.2 + 2 60 c.44G>T c.(43-45)TGT>TTT p.C15F RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_Missense_Mutation_p.C15F|RANBP17_uc011dew.1_Missense_Mutation_p.C15F NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 15 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAAGTGTTATGTACTCATCTC 0.338 NA T TRD@ ALL 9 46 3.09899e-07 4.56199e-07 0.004482 1 0 LOC202181 202181 broad.mit.edu 37 5 177054515 177054515 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:177054515A>G uc011dgc.1 - 2 358 c.230T>C c.(229-231)ATG>ACG p.M77T LOC202181_uc011dgb.1_RNA NM_198567 NP_940969 hypothetical protein LOC375484 0 CACAAAGTCCATCAAAAACTG 0.443 NA 20 94 0 0 0.002299 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178581891 178581891 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:178581891G>A uc003mjw.2 - 7 1162 c.1162C>T c.(1162-1164)CCG>TCG p.P388S ADAMTS2_uc011dgm.1_Missense_Mutation_p.P388S NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 388 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CTGCGGACCGGATGGCACATG 0.637 NA 4 21 0 0 0.001984 0 0 MAML1 9794 broad.mit.edu 37 5 179192504 179192504 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr5:179192504G>T uc003mkm.2 + 2 756 c.493G>T c.(493-495)GAC>TAC p.D165Y MAML1_uc003mkn.1_Missense_Mutation_p.D165Y NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 165 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGTCAGTCTGACAAGCCTTC 0.597 NA 12 58 3.07112e-06 4.28198e-06 0.000978 1 0 SERPINB9 5272 broad.mit.edu 37 6 2890614 2890614 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:2890614G>A uc003mug.2 - 7 1035 c.914C>T c.(913-915)GCG>GTG p.A305V uc003mue.2_Intron|SERPINB9_uc003muf.2_Missense_Mutation_p.A108V NM_004155 NP_004146 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B, member 9 305 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.108) GTCTCTCTCCGCTGACATTGC 0.498 NA 16 103 0 0 0.003163 0 0 LRRC16A 55604 broad.mit.edu 37 6 25600607 25600607 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:25600607G>T uc011djw.1 + 33 3561 c.3185G>T c.(3184-3186)CGA>CTA p.R1062L LRRC16A_uc010jpx.2_Missense_Mutation_p.R1062L|LRRC16A_uc010jpy.2_Missense_Mutation_p.R1062L NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1062 Inhibits capping activity of CAPZA2 (By similarity). actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 AAGAAAAAGCGAGATTCTCGG 0.438 NA 17 85 2.48551e-13 4.1079e-13 0.00499 1 0 HIST1H3E 8353 broad.mit.edu 37 6 26225732 26225732 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:26225732G>A uc003nhb.2 + 2 710 c.350G>A c.(349-351)CGC>CAC p.R117H HIST1H3E_uc003nhc.3_Missense_Mutation_p.R117H NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 117 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) CATGCCAAACGCGTGACCATC 0.557 NA OREG0017240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 98 0 0 0.004482 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107277 27107277 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:27107277G>A uc003niy.1 + 1 190 c.190G>A c.(190-192)GAG>AAG p.E64K HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 64 E -> Q (in a breast cancer sample; somatic mutation). CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 GGTGTTCCTGGAGAACGTGAT 0.652 NA T BCL6 NHL 17 57 0 0 0.004007 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107279 27107279 + Silent SNP G G A rs150377743 byFrequency TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:27107279G>A uc003niy.1 + 1 192 c.192G>A c.(190-192)GAG>GAA p.E64E HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 64 E -> Q (in a breast cancer sample; somatic mutation). CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 TGTTCCTGGAGAACGTGATCC 0.657 NA T BCL6 NHL 17 60 0 0 0.004007 0 0 GPX6 257202 broad.mit.edu 37 6 28483474 28483474 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:28483474A>G uc011dlj.1 - 1 97 c.47T>C c.(46-48)GTT>GCT p.V16A GPX6_uc010jrg.1_RNA NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 16 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) AGCAAAGCCAACCAGGAAAAA 0.542 NA 5 36 0 0 0.001984 0 0 OR12D2 26529 broad.mit.edu 37 6 29365221 29365221 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:29365221C>G uc003nmf.3 + 1 806 c.745C>G c.(745-747)CTT>GTT p.L249V NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGTAGTTATTCTTTTCTATGC 0.443 NA 33 181 0 0 0.003271 0 0 DDR1 780 broad.mit.edu 37 6 30862315 30862315 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:30862315G>A uc003nrr.2 + 12 1639 c.1380G>A c.(1378-1380)ACG>ACA p.T460T DDR1_uc010jse.2_Silent_p.T460T|DDR1_uc003nrq.2_Silent_p.T460T|DDR1_uc003nrs.2_Silent_p.T460T|DDR1_uc003nrt.2_Silent_p.T460T|DDR1_uc011dms.1_Silent_p.T478T|DDR1_uc003nru.2_Silent_p.T460T|DDR1_uc003nrv.2_Silent_p.T460T|DDR1_uc003nrw.1_Intron|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 460 Cytoplasmic (Potential). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) AGGAGCTGACGGTTCACCTCT 0.552 NA 5 60 0 0 0.000602 0 0 POU5F1 5460 broad.mit.edu 37 6 31133041 31133041 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:31133041A>G uc003nsv.2 - 4 734 c.680T>C c.(679-681)GTG>GCG p.V227A POU5F1_uc003nsu.2_Missense_Mutation_p.V132A|uc011dnf.1_5'Flank NM_002701 NP_002692 Q01860 PO5F1_HUMAN POU domain, class 5, transcription factor 1 227 V -> L (in Ref. 7; CAA79974). anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1) 13 TCGGGCCTGCACGAGGGTTTC 0.537 NA T EWSR1 sarcoma 4 15 0 0 0.00308 0 0 EHMT2 10919 broad.mit.edu 37 6 31857313 31857313 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:31857313C>G uc003nxz.1 - 8 941 c.931G>C c.(931-933)GAA>CAA p.E311Q EHMT2_uc003nxy.1_Missense_Mutation_p.E102Q|EHMT2_uc011don.1_Missense_Mutation_p.E368Q|EHMT2_uc003nya.1_Missense_Mutation_p.E311Q NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 311 Poly-Glu. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 tcttcctcttcttcttcttcc 0.289 NA 3 71 0 0 0.004672 0 0 C6orf10 10665 broad.mit.edu 37 6 32261492 32261493 + Missense_Mutation DNP CC CC TT TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:32261492_32261493CC>TT uc011dpy.1 - 12 1130_1131 c.957_958GG>AA c.(955-960)CAGGGA>CAAAGA p.G320R C6orf10_uc011dpx.1_Missense_Mutation_p.G102R NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 320 integral to membrane skin(1) 1 ATTTGGGCTCCCTGTCCTTGTG 0.441 NA 39 202 0 0 0.004672 0 0 SRPK1 6732 broad.mit.edu 37 6 35837307 35837307 + Missense_Mutation SNP A A C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:35837307A>C uc003olj.2 - 11 1486 c.1363T>G c.(1363-1365)TGT>GGT p.C455G SRPK1_uc011dtg.1_Missense_Mutation_p.C439G|SRPK1_uc003olh.2_Missense_Mutation_p.C348G|SRPK1_uc003oli.2_Missense_Mutation_p.C348G NM_003137 NP_003128 Q96SB4 SRPK1_HUMAN SFRS protein kinase 1 455 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 TCATCTTCACAGGGTATCTCT 0.463 NSCLC(31;67 978 16289 24856 26454) NA 14 149 0 0 0.00245 0 0 MAPK14 1432 broad.mit.edu 37 6 36075268 36075268 + Nonsense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:36075268C>G uc003olp.2 + 11 1359 c.878C>G c.(877-879)TCA>TGA p.S293* MAPK14_uc003olq.2_Nonsense_Mutation_p.S293*|MAPK14_uc003olr.2_Missense_Mutation_p.Q267E|MAPK14_uc011dti.1_Nonsense_Mutation_p.S216* NM_001315 NP_001306 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 isoform 1 293 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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 activity|MAP kinase kinase activity|protein binding ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 6 GTATTGGACTCAGATAAGAGA 0.438 Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610) NA 7 151 0 0 0.00308 0 0 TREM1 54210 broad.mit.edu 37 6 41250404 41250404 + Silent SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:41250404T>C uc003oqf.1 - 2 199 c.135A>G c.(133-135)CTA>CTG p.L45L TREM1_uc003oqg.1_Silent_p.L45L NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 45 Extracellular (Potential).|Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) CAAACTTCTCTAGCGTGTAGT 0.478 NA 17 148 0 0 0.00499 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42957397 42957397 + Nonsense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:42957397A>T uc003oth.2 + 2 162 c.76A>T c.(76-78)AAG>TAG p.K26* MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Nonsense_Mutation_p.K26*|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_Intron|PPP2R5D_uc003oti.2_5'UTR NM_006245 NP_006236 Q14738 2A5D_HUMAN delta isoform of regulatory subunit B56, protein 26 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(1)|central_nervous_system(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CAGCTCGGGCAAGGATGGTGG 0.537 Melanoma(63;587 1613 29742 31770) NA 5 21 0 0 0.000602 0 0 MAD2L1BP 9587 broad.mit.edu 37 6 43604174 43604174 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:43604174G>C uc003ovv.2 + 2 139 c.103G>C c.(103-105)GAG>CAG p.E35Q MAD2L1BP_uc003ovu.2_Missense_Mutation_p.E67Q NM_014628 NP_055443 Q15013 MD2BP_HUMAN MAD2L1 binding protein isoform 2 35 mitotic cell cycle checkpoint|regulation of exit from mitosis cytoplasm|nucleus|spindle protein binding 0 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AGAACTACTTGAGACAAGCTC 0.488 NA 4 68 0 0 0.000602 0 0 PKHD1 5314 broad.mit.edu 37 6 51890383 51890383 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:51890383C>A uc003pah.1 - 32 4501 c.4225G>T c.(4225-4227)GTG>TTG p.V1409L PKHD1_uc003pai.2_Missense_Mutation_p.V1409L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1409 IPT/TIG 9.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AACCCCCTCACAGTAAGTATG 0.498 NA 29 117 8.58068e-18 1.51297e-17 0.007291 1 0 MCM3 4172 broad.mit.edu 37 6 52149468 52149468 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:52149468G>A uc003pan.1 - 1 115 c.5C>T c.(4-6)GCG>GTG p.A2V MCM3_uc011dwu.1_5'UTR NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 2 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) CACGGTACCCGCCATGCCCGC 0.647 NA 4 7 0 0 0.000602 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62757886 62757886 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:62757886C>A uc003peg.2 - 3 480 c.233G>T c.(232-234)GGG>GTG p.G78V NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 78 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) AAGCAATTTCCCCACAAAATT 0.363 NA 10 69 0.000442599 0.000568287 0.006214 1 0 EPB41L2 2037 broad.mit.edu 37 6 131277563 131277563 + Silent SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:131277563A>G uc003qch.2 - 2 245 c.63T>C c.(61-63)GAT>GAC p.D21D EPB41L2_uc003qcg.1_Silent_p.D21D|EPB41L2_uc011eby.1_Silent_p.D21D|EPB41L2_uc003qci.2_Silent_p.D21D|EPB41L2_uc010kfk.2_Silent_p.D21D|EPB41L2_uc010kfl.1_Silent_p.D21D NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 21 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CCTTGGTTGCATCTGTTCCTA 0.438 NA 5 76 0 0 0.000602 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582513 136582513 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:136582513T>A uc003qgx.1 - 12 2900 c.2647A>T c.(2647-2649)AGC>TGC p.S883C BCLAF1_uc011edb.1_Missense_Mutation_p.S162C|BCLAF1_uc003qgw.1_Missense_Mutation_p.S710C|BCLAF1_uc003qgy.1_Missense_Mutation_p.S832C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S881C NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 883 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) TTAGGACTGCTACCTGATTTT 0.433 Colon(142;1534 1789 5427 7063 28491) NA 37 348 0 0 0.005524 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589341 136589341 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:136589341A>G uc003qgx.1 - 10 2609 c.2356T>C c.(2356-2358)TAC>CAC p.Y786H BCLAF1_uc011edb.1_Missense_Mutation_p.Y114H|BCLAF1_uc003qgw.1_Missense_Mutation_p.Y613H|BCLAF1_uc003qgy.1_Missense_Mutation_p.Y784H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Y784H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 786 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) AAGCCTGAGTATTCTTTCATT 0.383 Colon(142;1534 1789 5427 7063 28491) NA 9 174 0 0 0.008291 0 0 MIOS 54468 broad.mit.edu 37 7 7636007 7636007 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:7636007C>T uc003srf.2 + 11 2624 c.2316C>T c.(2314-2316)GTC>GTT p.V772V MIOS_uc003srg.2_Silent_p.V307V|MIOS_uc010ktq.2_Silent_p.V167V NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 772 0 AATCTAAAGTCACAAGTTGTC 0.458 NA 15 133 0 0 0.00499 0 0 DGKB 1607 broad.mit.edu 37 7 14217662 14217662 + Missense_Mutation SNP A A C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:14217662A>C uc003ssz.2 - 23 2427 c.2240T>G c.(2239-2241)GTC>GGC p.V747G DGKB_uc011jxt.1_Missense_Mutation_p.V728G|DGKB_uc003sta.2_Missense_Mutation_p.V747G|DGKB_uc011jxu.1_Missense_Mutation_p.V746G NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 747 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) CTACCTGATGACCACGCAGGA 0.498 NA 12 76 0 0 0.001368 0 0 CLK2P 1197 broad.mit.edu 37 7 23625596 23625596 + Translation_Start_Site SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:23625596G>C uc003swk.2 - 1 551 c.-99C>G c.(-101--97)ATCAT>ATGAT NR_002711 SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2; 0 CATTCTTAATGATCTTCAGGG 0.493 NA 9 47 0 0 0.008291 0 0 AEBP1 165 broad.mit.edu 37 7 44149642 44149642 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:44149642C>A uc003tkb.2 + 10 1484 c.1179C>A c.(1177-1179)CAC>CAA p.H393Q AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 393 Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGGAGTCACACCGTATTGAGG 0.627 NA 8 33 3.07112e-06 4.28198e-06 0.000978 1 0 PKD1L1 168507 broad.mit.edu 37 7 47970755 47970755 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:47970755C>A uc003tny.1 - 6 683 c.683G>T c.(682-684)AGC>ATC p.S228I NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 228 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TCGCTGGGAGCTGGTCTGAGT 0.612 NA 9 50 0.00448238 0.00553089 0.004482 1 0 ZPBP 11055 broad.mit.edu 37 7 50070835 50070835 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:50070835T>A uc003tou.2 - 5 629 c.559A>T c.(559-561)AAT>TAT p.N187Y ZPBP_uc011kci.1_Missense_Mutation_p.N113Y|ZPBP_uc010kyw.2_Missense_Mutation_p.N186Y NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 187 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) AAAGAAATATTATAAATGCTA 0.343 NA 10 73 0 0 0.000978 0 0 LANCL2 55915 broad.mit.edu 37 7 55496113 55496113 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:55496113C>G uc003tqp.2 + 8 1809 c.1231C>G c.(1231-1233)CCT>GCT p.P411A NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 411 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) GTGCCGCATTCCTGACAGACC 0.443 NA 11 56 0 0 0.001368 0 0 PION 54103 broad.mit.edu 37 7 76984630 76984630 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:76984630A>G uc003ugf.2 - 16 1317 c.1238T>C c.(1237-1239)TTA>TCA p.L413S PION_uc003ugg.1_Missense_Mutation_p.L198S NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 413 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 AAGCTGTAATAAAGACGACTG 0.507 NA 16 121 0 0 0.007413 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764239 92764239 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:92764239G>A uc003umh.1 - 5 2262 c.1046C>T c.(1045-1047)TCT>TTT p.S349F SAMD9L_uc003umj.1_Missense_Mutation_p.S349F|SAMD9L_uc003umi.1_Missense_Mutation_p.S349F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S349F|SAMD9L_uc003umk.1_Missense_Mutation_p.S349F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S349F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S349F|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 349 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GATATCCCTAGAGCTAGCCCC 0.348 NA 6 211 0 0 0.001168 0 0 CDHR3 222256 broad.mit.edu 37 7 105662817 105662817 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:105662817C>G uc003vdl.3 + 14 2107 c.1999C>G c.(1999-2001)CTT>GTT p.L667V CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.L654V|CDHR3_uc011klt.1_Missense_Mutation_p.L579V|CDHR3_uc003vdn.2_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 667 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 AGCGGAGGCTCTTGTTGAGAC 0.473 NA 14 180 0 0 0.00245 0 0 HYAL4 23553 broad.mit.edu 37 7 123508376 123508376 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:123508376G>T uc003vlc.2 + 3 687 c.49G>T c.(49-51)GTA>TTA p.V17L HYAL4_uc011knz.1_Missense_Mutation_p.V17L NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 17 Helical; (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 TGTTCAACCAGTACATCTCAC 0.343 NA 24 157 6.36457e-07 9.28289e-07 0.003954 1 0 AKR1B10 57016 broad.mit.edu 37 7 134222989 134222989 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:134222989C>A uc003vrr.2 + 8 1105 c.785C>A c.(784-786)CCC>CAC p.P262H NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 262 NADP. cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 ATTGTCATCCCCAAGTCTGTG 0.522 NA 45 222 1.51926e-22 2.73207e-22 0.00361 1 0 KIAA1549 57670 broad.mit.edu 37 7 138556069 138556069 + Nonsense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:138556069G>C uc011kql.1 - 13 4434 c.4385C>G c.(4384-4386)TCA>TGA p.S1462* KIAA1549_uc011kqi.1_Nonsense_Mutation_p.S246*|KIAA1549_uc003vuk.3_Nonsense_Mutation_p.S1412*|KIAA1549_uc011kqj.1_Nonsense_Mutation_p.S1462*|KIAA1549_uc011kqk.1_Nonsense_Mutation_p.S246* NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1462 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GATGGAGGCTGATGAGTGCTG 0.562 NSCLC(119;1534 1718 44213 46230 50068) NA O BRAF pilocytic astrocytoma 7 73 0 0 0.001984 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464496 141464496 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:141464496C>G uc003vwp.1 + 1 600 c.538C>G c.(538-540)CTG>GTG p.L180V NM_016943 NP_058639 Q9NYW6 TA2R3_HUMAN taste receptor T2R3 180 Extracellular (Potential). sensory perception of taste taste receptor activity central_nervous_system(1) 1 Melanoma(164;0.0171) TGAGTATTATCTGATCCATGT 0.478 NA 17 53 0 0 0.006122 0 0 EPHB6 2051 broad.mit.edu 37 7 142563293 142563293 + Missense_Mutation SNP G G A rs143088751 TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:142563293G>A uc011kst.1 + 8 1797 c.1010G>A c.(1009-1011)CGC>CAC p.R337H EPHB6_uc011ksu.1_Missense_Mutation_p.R337H|EPHB6_uc003wbs.2_Missense_Mutation_p.R45H|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.R45H|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 337 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) TGCCCTGCCCGCAGTCACGCT 0.667 NA 10 35 0 0 0.000978 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881181 142881181 + Missense_Mutation SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:142881181T>C uc011ksw.1 + 1 670 c.670T>C c.(670-672)TTC>CTC p.F224L NM_176881 NP_795362 P59534 T2R39_HUMAN taste receptor, type 2, member 39 224 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 Melanoma(164;0.059) TCTGATCATGTTCATCCTGAC 0.507 NA 22 123 0 0 0.002299 0 0 SSPO 23145 broad.mit.edu 37 7 149492429 149492429 + Silent SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:149492429A>T uc010lpk.2 + 43 6318 c.6318A>T c.(6316-6318)GGA>GGT p.G2106G NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2106 F5/8 type C. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCTCAGGGATGGCACGCTG 0.657 NA 4 31 0 0 0.000248 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417566 150417566 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:150417566C>T uc003whq.2 + 3 561 c.474C>T c.(472-474)GCC>GCT p.A158A GIMAP1_uc003whp.2_Silent_p.A166A NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 158 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGACCTGGCCGGGGGCTCCC 0.647 NA 9 76 0 0 0.004482 0 0 MLL3 58508 broad.mit.edu 37 7 151876995 151876995 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:151876995C>T uc003wla.2 - 37 7585 c.7366G>A c.(7366-7368)GCT>ACT p.A2456T MLL3_uc003wkz.2_Missense_Mutation_p.A1517T|MLL3_uc003wky.2_5'Flank NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2456 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGGAAAACAGCATATCTAGGT 0.488 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 16 104 0 0 0.004007 0 0 C8orf74 203076 broad.mit.edu 37 8 10555137 10555137 + Silent SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr8:10555137C>A uc003wtd.1 + 3 299 c.270C>A c.(268-270)ATC>ATA p.I90I C8orf74_uc003wte.1_RNA NM_001040032 NP_001035121 Q6P047 CH074_HUMAN hypothetical protein LOC203076 90 0 COAD - Colon adenocarcinoma(149;0.0811) CTGTGACGATCCTGGGGAACA 0.582 NA 12 97 2.80697e-09 4.37639e-09 0.000978 1 0 PIWIL2 55124 broad.mit.edu 37 8 22161574 22161574 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr8:22161574G>A uc003xbn.2 + 11 1370 c.1222G>A c.(1222-1224)GAG>AAG p.E408K PIWIL2_uc011kzf.1_Missense_Mutation_p.E408K|PIWIL2_uc010ltv.2_Missense_Mutation_p.E408K NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 408 PAZ. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CTTCCAGGATGAGTGTACTAA 0.378 NA 6 69 0 0 0.001984 0 0 CSPP1 79848 broad.mit.edu 37 8 68070788 68070788 + Missense_Mutation SNP A A C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr8:68070788A>C uc003xxi.2 + 20 2469 c.2438A>C c.(2437-2439)GAG>GCG p.E813A CSPP1_uc003xxg.1_Missense_Mutation_p.E805A|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E778A|CSPP1_uc003xxk.2_Missense_Mutation_p.E433A NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 813 Glu-rich. centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) ATTCagcaggagtatgaagag 0.299 NA 5 16 0 0 0.001168 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885671 88885671 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr8:88885671G>T uc003ydz.2 - 1 626 c.529C>A c.(529-531)CTT>ATT p.L177I NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 177 ovary(1) 1 AAACTGCAAAGCATGCCAGGC 0.572 NA 11 117 0.00010058 0.000132089 0.001368 1 0 KIAA1429 25962 broad.mit.edu 37 8 95507124 95507124 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr8:95507124T>A uc003ygo.1 - 20 4618 c.4605A>T c.(4603-4605)CCA>CCT p.P1535P KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1535 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CAGCCTGAAATGGAGTGAACC 0.323 NA 41 156 0 0 0.002222 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110520333 110520333 + Missense_Mutation SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr8:110520333T>G uc003yne.2 + 70 11339 c.11235T>G c.(11233-11235)ATT>ATG p.I3745M NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3745 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TAGGAATTATTAGAGATTCAA 0.333 NA HNSCC(38;0.096) 6 91 0 0 0.00308 0 0 CSMD3 114788 broad.mit.edu 37 8 113299475 113299475 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr8:113299475C>A uc003ynu.2 - 58 9308 c.9149G>T c.(9148-9150)GGT>GTT p.G3050V CSMD3_uc003yns.2_Missense_Mutation_p.G2252V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3010V|CSMD3_uc011lhx.1_Missense_Mutation_p.G2881V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3050 Sushi 21.|Extracellular (Potential). 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 AGTAGCATCACCTGCAATGCA 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 89 0.00198382 0.00247684 0.001984 1 0 ADCY8 114 broad.mit.edu 37 8 131826459 131826459 + Silent SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr8:131826459G>T uc003ytd.3 - 14 3025 c.2769C>A c.(2767-2769)GCC>GCA p.A923A ADCY8_uc010mds.2_Silent_p.A792A NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 923 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGTCCAGGCGGGCTGTGTACT 0.507 NA HNSCC(32;0.087) 29 69 2.12542e-12 3.4675e-12 0.00632 1 0 TRAPPC9 83696 broad.mit.edu 37 8 141262908 141262908 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr8:141262908C>A uc003yvj.2 - 16 2533 c.2399G>T c.(2398-2400)TGC>TTC p.C800F TRAPPC9_uc003yvh.2_Missense_Mutation_p.C898F|TRAPPC9_uc010mel.1_Missense_Mutation_p.C221F|TRAPPC9_uc003yvi.1_Missense_Mutation_p.C791F NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 800 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 ATTCTCCTGGCAGGAGAAATC 0.498 NA 27 46 1.75199e-13 2.91844e-13 0.007291 1 0 FAM154A 158297 broad.mit.edu 37 9 18950803 18950803 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr9:18950803C>T uc003zni.1 - 2 449 c.171G>A c.(169-171)CGG>CGA p.R57R FAM154A_uc010mip.1_5'UTR NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 57 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) TCTGGTACTCCCGCCTTGGCT 0.443 NA 28 115 0 0 0.008361 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318919 79318919 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr9:79318919G>T uc010mpk.2 - 9 7734 c.7610C>A c.(7609-7611)ACA>AAA p.T2537K PRUNE2_uc004akj.3_5'UTR|PRUNE2_uc010mpl.1_5'UTR NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2537 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ATTCTTCTCTGTACATCTTTC 0.383 NA 48 255 3.21987e-24 5.85683e-24 0.00361 1 0 TLR4 7099 broad.mit.edu 37 9 120475379 120475379 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr9:120475379G>T uc004bjz.2 + 3 1264 c.973G>T c.(973-975)GAC>TAC p.D325Y TLR4_uc004bka.2_Missense_Mutation_p.D285Y|TLR4_uc004bkb.2_Missense_Mutation_p.D125Y NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 325 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AAGGGTAAAAGACTTTTCTTA 0.313 NA 16 67 6.31663e-08 9.56561e-08 0.003163 1 0 RABEPK 10244 broad.mit.edu 37 9 127990243 127990243 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr9:127990243A>G uc004bpi.2 + 7 754 c.581A>G c.(580-582)CAT>CGT p.H194R RABEPK_uc004bpj.2_Missense_Mutation_p.H143R|RABEPK_uc004bpk.2_Missense_Mutation_p.H194R|RABEPK_uc004bpl.1_Missense_Mutation_p.H143R|RABEPK_uc004bpm.2_Missense_Mutation_p.H194R NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 194 Kelch 3. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 TCTCCCCGGCATGGTCATGTG 0.458 NA 18 52 0 0 0.008871 0 0 CIZ1 25792 broad.mit.edu 37 9 130941408 130941408 + Nonsense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr9:130941408G>A uc004btt.2 - 8 1241 c.1078C>T c.(1078-1080)CAG>TAG p.Q360* CIZ1_uc004btr.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004bts.2_Nonsense_Mutation_p.Q331*|CIZ1_uc011maq.1_Nonsense_Mutation_p.Q355*|CIZ1_uc004btu.2_Nonsense_Mutation_p.Q336*|CIZ1_uc011mar.1_Nonsense_Mutation_p.Q259*|CIZ1_uc011mas.1_Nonsense_Mutation_p.Q390*|CIZ1_uc004btw.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004btv.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004btx.2_Nonsense_Mutation_p.Q336* NM_001131016 NP_001124488 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 isoform 360 Gln-rich. nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 ggctgcacctgcttctgttgc 0.249 NA 12 34 0 0 0.001368 0 0 TUBBP5 643224 broad.mit.edu 37 9 141071340 141071340 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr9:141071340G>A uc004com.2 + 4 1004 c.743G>A c.(742-744)CGC>CAC p.R248H TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TTCCAGGGTCGCATGCCCATG 0.542 NA 4 78 0 0 0.004482 0 0 IL3RA 3563 broad.mit.edu 37 X 1460679 1460679 + Silent SNP G G T rs138038721 byFrequency TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:1460679G>T uc004cps.2 + 2 370 c.21G>T c.(19-21)ACG>ACT p.T7T IL3RA_uc011mhd.1_Silent_p.T7T NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 7 integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TTTGGCTCACGCTGCTCCTGA 0.607 NA 14 145 2.62699e-14 4.42256e-14 0.003163 1 0 ASB11 140456 broad.mit.edu 37 X 15311352 15311352 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:15311352C>T uc004cwp.1 - 4 460 c.460G>A c.(460-462)GGA>AGA p.G154R ASB11_uc004cwo.1_Missense_Mutation_p.G133R|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.G137R NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box-containing protein 154 ANK 3. intracellular signal transduction breast(2)|skin(1) 3 Hepatocellular(33;0.183) GCCTTGGCTCCGAACTCCAGC 0.552 NA 31 166 0 0 0.002445 0 0 PPEF1 5475 broad.mit.edu 37 X 18802079 18802079 + Silent SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:18802079A>T uc004cyq.2 + 12 1306 c.825A>T c.(823-825)ACA>ACT p.T275T PPEF1_uc004cyp.2_Silent_p.T275T|PPEF1_uc004cyr.2_Silent_p.T275T|PPEF1_uc004cys.2_Silent_p.T275T|PPEF1_uc011mja.1_Silent_p.T210T|PPEF1_uc011mjb.1_Silent_p.T219T NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 275 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) CAATCGGTACAATCGTTGACA 0.403 NA 35 122 0 0 0.003755 0 0 GPR64 10149 broad.mit.edu 37 X 19020988 19020988 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:19020988G>T uc004cyx.2 - 24 2370 c.2206C>A c.(2206-2208)CTT>ATT p.L736I GPR64_uc004cyy.2_Missense_Mutation_p.L733I|GPR64_uc004cyz.2_Missense_Mutation_p.L722I|GPR64_uc004czb.2_Missense_Mutation_p.L736I|GPR64_uc004czc.2_Missense_Mutation_p.L720I|GPR64_uc004czd.2_Missense_Mutation_p.L712I|GPR64_uc004cze.2_Missense_Mutation_p.L706I|GPR64_uc004czf.2_Missense_Mutation_p.L698I|GPR64_uc004cza.2_Missense_Mutation_p.L714I|GPR64_uc004cyw.2_Missense_Mutation_p.L720I|GPR64_uc010nfj.2_Missense_Mutation_p.L617I NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 736 Cytoplasmic (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) CAGAATTTAAGGATGTATTTT 0.408 NA 11 132 6.40141e-05 8.47718e-05 0.000978 1 0 MAGEB18 286514 broad.mit.edu 37 X 26157547 26157547 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:26157547C>A uc004dbq.1 + 2 632 c.445C>A c.(445-447)CTC>ATC p.L149I NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 149 MAGE. protein binding central_nervous_system(1) 1 CAATGAGATCCTCAAGAGAGC 0.418 NA 3 11 6.4e-05 8.47718e-05 0.004672 1 0 GK 2710 broad.mit.edu 37 X 30709248 30709248 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:30709248G>C uc004dch.3 + 5 525 c.346G>C c.(346-348)GAT>CAT p.D116H GK_uc010ngj.2_Missense_Mutation_p.D116H|GK_uc004dci.3_Missense_Mutation_p.D116H|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_5'UTR|GK_uc010ngk.2_5'UTR NM_203391 NP_976325 P32189 GLPK_HUMAN glycerol kinase isoform a 116 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1) 1 AGTGTGGCTTGATCTAAGAAC 0.289 NA 5 147 0 0 0.000602 0 0 CXorf22 170063 broad.mit.edu 37 X 35969251 35969251 + Silent SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:35969251G>T uc004ddj.2 + 5 719 c.660G>T c.(658-660)GTG>GTT p.V220V CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 220 large_intestine(1)|lung(1)|ovary(1) 3 CCTGTAGAGTGATTTTGCAAG 0.333 NA 9 58 0.000442599 0.000568287 0.006214 1 0 BCOR 54880 broad.mit.edu 37 X 39923699 39923699 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:39923699C>A uc004den.3 - 7 3684 c.3392G>T c.(3391-3393)CGG>CTG p.R1131L BCOR_uc004dep.3_Missense_Mutation_p.R1131L|BCOR_uc004deo.3_Missense_Mutation_p.R1113L|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Missense_Mutation_p.R1131L NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1131 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CCTGTCCACCCGGAGGGTGGG 0.607 NA 7 51 2.0095e-06 2.83299e-06 0.001984 1 0 DDX3X 1654 broad.mit.edu 37 X 41196688 41196688 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:41196688G>A uc004dfe.2 + 2 928 c.73G>A c.(73-75)GAT>AAT p.D25N DDX3X_uc004dfd.1_RNA|DDX3X_uc010nhf.1_Missense_Mutation_p.D25N|DDX3X_uc004dff.2_Missense_Mutation_p.D25N|DDX3X_uc011mkq.1_Missense_Mutation_p.D25N|DDX3X_uc011mkr.1_Missense_Mutation_p.D25N|DDX3X_uc011mks.1_Missense_Mutation_p.D25N|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 25 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 GAACTCTTCAGATAATCAGAG 0.408 NA HNSCC(61;0.18) 7 116 0 0 0.00308 0 0 RP2 6102 broad.mit.edu 37 X 46712938 46712938 + Nonsense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:46712938G>T uc004dgw.3 + 2 319 c.130G>T c.(130-132)GGA>TGA p.G44* NM_006915 NP_008846 O75695 XRP2_HUMAN XRP2 protein 44 C-CAP/cofactor C-like. cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception cytoplasm|plasma membrane ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding 0 CATGTTCAGTGGACTGAAGGA 0.333 NA 7 95 8.12818e-05 0.000106968 0.001984 1 0 WDR13 64743 broad.mit.edu 37 X 48458017 48458017 + Missense_Mutation SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:48458017T>G uc004dkh.1 + 5 582 c.435T>G c.(433-435)AGT>AGG p.S145R WDR13_uc010nif.1_Missense_Mutation_p.S23R|WDR13_uc004dki.1_Missense_Mutation_p.S53R|WDR13_uc004dkj.1_Missense_Mutation_p.S145R|WDR13_uc004dkk.1_Missense_Mutation_p.S53R|WDR13_uc004dkl.3_Missense_Mutation_p.S53R|WDR13_uc011mme.1_Missense_Mutation_p.S23R NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 145 cytoplasm|nucleus ovary(2) 2 CAGAGGCAAGTCGGGCCATGG 0.607 NA 7 99 0 0 0.001984 0 0 WNK3 65267 broad.mit.edu 37 X 54264888 54264888 + Missense_Mutation SNP T T C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:54264888T>C uc004dtd.1 - 19 4199 c.3760A>G c.(3760-3762)AGA>GGA p.R1254G WNK3_uc004dtc.1_Missense_Mutation_p.R1301G NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1254 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 ATTGCTGATCTCATCTCTTCT 0.378 NA 10 36 0 0 0.006214 0 0 ALAS2 212 broad.mit.edu 37 X 55052311 55052311 + Silent SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:55052311C>A uc004dua.3 - 2 261 c.123G>T c.(121-123)CTG>CTT p.L41L ALAS2_uc004dub.3_Silent_p.L65L|ALAS2_uc004dud.3_Silent_p.L41L NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 41 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) CTTGGGTAGCCAGGATGGGAC 0.542 NA 12 86 7.93312e-07 1.14129e-06 0.00245 1 0 MED12 9968 broad.mit.edu 37 X 70356805 70356805 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:70356805C>T uc004dyy.2 + 38 5676 c.5477C>T c.(5476-5478)CCT>CTT p.P1826L MED12_uc011mpq.1_Missense_Mutation_p.P1826L|MED12_uc004dyz.2_Missense_Mutation_p.P1826L|MED12_uc004dza.2_Missense_Mutation_p.P1673L|MED12_uc010nla.2_Missense_Mutation_p.P452L NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1826 Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.T1826I(1) ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CACCCAAACCCTGGTTCTATA 0.582 NA 4 30 0 0 0.000248 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960592 73960592 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:73960592G>T uc004eby.2 - 3 4417 c.3800C>A c.(3799-3801)CCT>CAT p.P1267H NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1267 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 AGAGGCCATAGGGCCACCATG 0.527 NA 8 53 0.00307968 0.00382243 0.00308 1 0 KIAA2022 340533 broad.mit.edu 37 X 73961412 73961412 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:73961412C>T uc004eby.2 - 3 3597 c.2980G>A c.(2980-2982)GAT>AAT p.D994N NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 994 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GCCATTGAATCAAAGCTAAAG 0.428 NA 14 49 0 0 0.001855 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83319979 83319979 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:83319979C>A uc004eej.1 - 21 2189 c.2112G>T c.(2110-2112)AAG>AAT p.K704N RPS6KA6_uc011mqt.1_Missense_Mutation_p.K704N|RPS6KA6_uc011mqu.1_Missense_Mutation_p.K601N NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 704 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 TTTGTTTTACCTTAACAACAT 0.353 NA 11 147 0.00136819 0.00173213 0.001368 1 0 RPS6KA6 27330 broad.mit.edu 37 X 83362701 83362701 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:83362701G>C uc004eej.1 - 13 1118 c.1041C>G c.(1039-1041)TTC>TTG p.F347L RPS6KA6_uc011mqt.1_Missense_Mutation_p.F347L|RPS6KA6_uc011mqu.1_Missense_Mutation_p.F244L NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 347 AGC-kinase C-terminal. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 AAGCAGGTTTGAAAGGAGGTT 0.299 NA 3 46 0 0 0.000248 0 0 HDX 139324 broad.mit.edu 37 X 83599336 83599336 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:83599336C>T uc004eek.1 - 6 1691 c.1582G>A c.(1582-1584)GAA>AAA p.E528K HDX_uc011mqv.1_Missense_Mutation_p.E528K|HDX_uc004eel.1_Missense_Mutation_p.E470K NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 528 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 GGCCCAGCTTCCTCTCCTGGT 0.463 Pancreas(53;231 1169 36156 43751 51139) NA 4 95 0 0 0.000248 0 0 HDX 139324 broad.mit.edu 37 X 83724224 83724224 + Silent SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:83724224T>A uc004eek.1 - 3 616 c.507A>T c.(505-507)CTA>CTT p.L169L HDX_uc011mqv.1_Silent_p.L169L|HDX_uc004eel.1_Silent_p.L111L NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 169 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 TTTTTTCACCTAGGAGTAGGG 0.368 Pancreas(53;231 1169 36156 43751 51139) NA 27 138 0 0 0.005443 0 0 POF1B 79983 broad.mit.edu 37 X 84559397 84559397 + Silent SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:84559397C>A uc004eer.2 - 14 1664 c.1518G>T c.(1516-1518)CTG>CTT p.L506L POF1B_uc004ees.2_Silent_p.L506L NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 506 actin binding 0 GCAAGCTTGTCAGTTCATGAA 0.373 NA 16 47 0.00316338 0.00391863 0.003163 1 0 FAM133A 286499 broad.mit.edu 37 X 92965126 92965126 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:92965126G>A uc004efr.1 + 4 1021 c.708G>A c.(706-708)AAG>AAA p.K236K NM_173698 NP_775969 Q8N9E0 F133A_HUMAN hypothetical protein LOC286499 236 Lys-rich. 0 atagtaagaagaagaaaaaga 0.279 NA 4 32 0 0 0.000248 0 0 SRPX2 27286 broad.mit.edu 37 X 99920554 99920554 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:99920554G>T uc004egb.2 + 7 1161 c.681G>T c.(679-681)GAG>GAT p.E227D NM_014467 NP_055282 O60687 SRPX2_HUMAN sushi-repeat-containing protein, X-linked 2 227 HYR. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding ovary(2) 2 GGGGCCCTGAGCCTGGCTCTC 0.527 NA 9 122 1.12685e-05 1.54393e-05 0.004482 1 0 NOX1 27035 broad.mit.edu 37 X 100106267 100106267 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:100106267C>T uc004egj.2 - 8 1058 c.852G>A c.(850-852)AGG>AGA p.R284R NOX1_uc004egl.3_Silent_p.R284R|NOX1_uc010nne.2_Silent_p.R247R NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 284 FAD-binding FR-type.|Extracellular (Potential). angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 ACCGGAGGATCCTTTCACAGA 0.423 NA 9 26 0 0 0.006214 0 0 GLA 2717 broad.mit.edu 37 X 100653523 100653523 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:100653523A>T uc004ehl.1 - 6 944 c.834T>A c.(832-834)AAT>AAA p.N278K NM_000169 NP_000160 P06280 AGAL_HUMAN alpha-galactosidase A precursor 278 glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding 0 Agalsidase beta(DB00103) TTACTTGCTGATTCCAGCTGA 0.443 Colon(193;776 2816 31189 44474) NA 4 182 0 0 0.000248 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011541 105011541 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:105011541A>T uc004elz.1 + 11 2704 c.1948A>T c.(1948-1950)AAC>TAC p.N650Y NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 650 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GACGCTACTCAACGGACAGCT 0.463 NA 32 128 0 0 0.001786 0 0 CHRDL1 91851 broad.mit.edu 37 X 109943926 109943926 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:109943926G>A uc004eou.3 - 7 914 c.565C>T c.(565-567)CAT>TAT p.H189Y CHRDL1_uc004eov.2_Missense_Mutation_p.H183Y|CHRDL1_uc004eow.2_Missense_Mutation_p.H188Y|CHRDL1_uc010nps.2_Missense_Mutation_p.H188Y|CHRDL1_uc004eot.2_Missense_Mutation_p.H109Y|CHRDL1_uc011mss.1_Missense_Mutation_p.H103Y NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 182 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 CCATCAGAATGTTCCCATGAC 0.408 NA 10 99 0 0 0.008291 0 0 PAK3 5063 broad.mit.edu 37 X 110459767 110459767 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:110459767C>A uc004epa.2 + 14 1598 c.1571C>A c.(1570-1572)TCT>TAT p.S524Y PAK3_uc010npt.1_Missense_Mutation_p.S509Y|PAK3_uc010npu.1_Missense_Mutation_p.S509Y|PAK3_uc004eoy.1_Missense_Mutation_p.S264Y|PAK3_uc004eoz.2_Missense_Mutation_p.S509Y|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.S545Y|PAK3_uc010npw.1_Missense_Mutation_p.S530Y NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 524 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 AGGCGAGGATCTGCCAAGGAG 0.433 NA TSP Lung(19;0.15) 13 118 3.27435e-08 4.97042e-08 0.00245 1 0 CAPN6 827 broad.mit.edu 37 X 110494870 110494870 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:110494870C>A uc004epc.1 - 6 968 c.800G>T c.(799-801)AGA>ATA p.R267I CAPN6_uc011msu.1_Missense_Mutation_p.R12I NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 267 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 TTCCACAAGTCTCTCTCCAAG 0.483 NA 43 477 7.63091e-17 1.31977e-16 0.007835 1 0 KIAA1210 57481 broad.mit.edu 37 X 118221462 118221462 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:118221462C>A uc004era.3 - 11 3731 c.3731G>T c.(3730-3732)AGT>ATT p.S1244I NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1244 ovary(4)|skin(1) 5 AGGATTAGCACTCCCTGAATC 0.463 NA 7 43 1.06961e-07 1.61206e-07 0.00308 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130220361 130220361 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:130220361C>G uc004evz.2 + 10 1685 c.1340C>G c.(1339-1341)GCA>GGA p.A447G ARHGAP36_uc004ewa.2_Missense_Mutation_p.A435G|ARHGAP36_uc004ewb.2_Missense_Mutation_p.A416G|ARHGAP36_uc004ewc.2_Missense_Mutation_p.A311G NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 447 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 AGCCCGGAAGCACTTGATTTT 0.483 NA 34 91 0 0 0.003755 0 0 GPR112 139378 broad.mit.edu 37 X 135427235 135427235 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:135427235C>A uc004ezu.1 + 6 1661 c.1370C>A c.(1369-1371)GCA>GAA p.A457E GPR112_uc010nsb.1_Missense_Mutation_p.A252E|GPR112_uc010nsc.1_Missense_Mutation_p.A224E NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 457 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACTTCACCTGCATCTACTCAT 0.493 NA 13 115 2.27111e-07 3.35891e-07 0.001368 1 0 GPR101 83550 broad.mit.edu 37 X 136113029 136113029 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:136113029C>T uc011mwh.1 - 1 805 c.805G>A c.(805-807)GAG>AAG p.E269K NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 269 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GCCTTGACCTCACCTTCATGC 0.572 NA 29 263 0 0 0.00632 0 0 F9 2158 broad.mit.edu 37 X 138644074 138644074 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:138644074T>A uc004fas.1 + 8 1259 c.1230T>A c.(1228-1230)GAT>GAA p.D410E F9_uc004fat.1_Missense_Mutation_p.D372E NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 410 Peptidase S1. D -> H (in HEMB; Mechtal). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) GTCAAGGAGATAGTGGGGGAC 0.438 NA 34 153 0 0 0.004289 0 0 F9 2158 broad.mit.edu 37 X 138644077 138644077 + Missense_Mutation SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:138644077T>G uc004fas.1 + 8 1262 c.1233T>G c.(1231-1233)AGT>AGG p.S411R F9_uc004fat.1_Missense_Mutation_p.S373R NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 411 Peptidase S1. Charge relay system. S -> I (in HEMB; Schmallenberg).|S -> G (in HEMB; Varel). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AAGGAGATAGTGGGGGACCCC 0.433 NA 34 150 0 0 0.004289 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716499 142716499 + Missense_Mutation SNP C C G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:142716499C>G uc004fbx.2 - 2 2802 c.2426G>C c.(2425-2427)AGT>ACT p.S809T SLITRK4_uc004fby.2_Missense_Mutation_p.S809T NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 809 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) AAAATACTCACTCTTCCTTTG 0.423 NA 12 132 0 0 0.000978 0 0 GPR50 9248 broad.mit.edu 37 X 150345268 150345268 + Silent SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:150345268G>T uc010ntg.1 + 1 210 c.75G>T c.(73-75)CCG>CCT p.P25P uc004fes.1_RNA|GPR50_uc011myc.1_Silent_p.P25P NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 25 Extracellular (Potential). cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AATACCCACCGGCTCTAATCA 0.517 NA 19 151 5.03518e-11 8.1101e-11 0.007413 1 0 CNGA2 1260 broad.mit.edu 37 X 150911089 150911089 + Silent SNP G G T rs146197221 byFrequency TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:150911089G>T uc004fey.1 + 6 788 c.564G>T c.(562-564)GCG>GCT p.A188A NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 188 Helical; Name=H2; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCTACATTGCGGACCTCTTCA 0.532 NA 7 163 2.0095e-06 2.83299e-06 0.001984 1 0 PLXNB3 5365 broad.mit.edu 37 X 153039543 153039543 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:153039543T>A uc004fii.2 + 20 3683 c.3509T>A c.(3508-3510)CTG>CAG p.L1170Q PLXNB3_uc010nuk.2_Missense_Mutation_p.L1193Q|PLXNB3_uc011mzd.1_Missense_Mutation_p.L809Q|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1170 IPT/TIG 4.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGCCATGTCCTGGATGTGGAG 0.711 NA 3 16 0 0 0.004672 0 0 IRAK1 3654 broad.mit.edu 37 X 153284753 153284753 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:153284753G>A uc004fjs.1 - 3 410 c.331C>T c.(331-333)CCA>TCA p.P111S IRAK1_uc004fjr.1_Missense_Mutation_p.P111S|IRAK1_uc004fjt.1_Missense_Mutation_p.P111S|IRAK1_uc010nur.2_Missense_Mutation_p.P111S|IRAK1_uc004fju.2_Missense_Mutation_p.P137S NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 111 ProST region. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGGTGCCTGGGGACGGAAGC 0.736 NA 3 36 0 0 0.004672 0 0 F8 2157 broad.mit.edu 37 X 154065930 154065930 + Missense_Mutation SNP A A T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:154065930A>T uc004fmt.2 - 26 7169 c.6998T>A c.(6997-6999)GTG>GAG p.V2333E F8_uc004fms.2_Missense_Mutation_p.V198E NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 2333 F5/8 type C 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AATCTGGTGCACCCAACTCTG 0.572 NA 4 25 0 0 0.000248 0 0 F8 2157 broad.mit.edu 37 X 154157435 154157435 + Missense_Mutation SNP G G T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:154157435G>T uc004fmt.2 - 14 4801 c.4630C>A c.(4630-4632)CTT>ATT p.L1544I NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1544 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CCCTGAAGAAGGCTCCCTTCC 0.468 NA 18 221 5.35267e-07 7.84314e-07 0.007413 1 0 RAB39B 116442 broad.mit.edu 37 X 154490325 154490325 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:154490325G>A uc004fne.2 - 2 684 c.405C>T c.(403-405)CGC>CGT p.R135R NM_171998 NP_741995 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 135 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGCCTCGTGGCGAGTCACTT 0.493 NA 20 183 0 0 0.008871 0 0 TMLHE 55217 broad.mit.edu 37 X 154736778 154736778 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:154736778C>A uc004fnn.2 - 6 942 c.776G>T c.(775-777)TGT>TTT p.C259F TMLHE_uc004fno.2_Missense_Mutation_p.C259F|TMLHE_uc004fnp.3_Missense_Mutation_p.C259F NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 259 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) ATGTTTAAGACAATGAAACAC 0.358 NA 20 216 4.16121e-05 5.55706e-05 0.00278 1 0 CSMD2 114784 broad.mit.edu 37 1 34049270 34049270 + Frame_Shift_Del DEL C C - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:34049270delC uc001bxn.1 - 48 7247 c.7218delG c.(7216-7218)AAGfs p.K2406fs CSMD2_uc001bxm.1_Frame_Shift_Del_p.K2404fs NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2406 CUB 14.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CATCATATTGCTTCTCGCTGA 0.398 NA 23 209 --- --- --- --- NA NA NA NA NA LAMB3 3914 broad.mit.edu 37 1 209799153 209799153 + Frame_Shift_Del DEL T T - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr1:209799153delT uc001hhg.2 - 13 2206 c.1816delA c.(1816-1818)ACCfs p.T606fs LAMB3_uc009xco.2_Frame_Shift_Del_p.T606fs|LAMB3_uc001hhh.2_Frame_Shift_Del_p.T606fs|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 606 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGGCTGGCGGTGGCATTGCGG 0.622 NA 13 70 --- --- --- --- NA NA NA NA NA OR52B4 143496 broad.mit.edu 37 11 4389086 4389087 + Frame_Shift_Ins INS - - A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:4389086_4389087insA uc010qye.1 - 1 439_440 c.439_440insT c.(439-441)TGTfs p.C147fs NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GACAGTCACACAAATTTTCTTG 0.381 NA 14 85 --- --- --- --- NA NA NA NA NA IFT46 56912 broad.mit.edu 37 11 118430510 118430512 + In_Frame_Del DEL TCC TCC - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 TCC TCC - - TCC TCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr11:118430510_118430512delTCC uc001ptp.1 - 3 411_413 c.33_35delGGA c.(31-36)GAGGAA>GAA p.11_12EE>E IFT46_uc001pto.1_In_Frame_Del_p.11_12EE>E|IFT46_uc009zaf.1_In_Frame_Del_p.11_12EE>E NM_020153 NP_064538 Q9NQC8 IFT46_HUMAN IFT46 11_12 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding 0 CTTGTTATTTTCCTCTTCACACT 0.374 NA 10 59 --- --- --- --- NA NA NA NA NA DNAH10 196385 broad.mit.edu 37 12 124323158 124323158 + Frame_Shift_Del DEL C C - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr12:124323158delC uc001uft.3 + 28 4729 c.4704delC c.(4702-4704)TTCfs p.F1568fs NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1568 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCCCAAGGTTCTTCTTCATTT 0.527 NA 17 107 --- --- --- --- NA NA NA NA NA SLC6A11 6538 broad.mit.edu 37 3 10861452 10861466 + In_Frame_Del DEL CATCCTGGCATGGGC CATCCTGGCATGGGC - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 CATCCTGGCATGGGC CATCCTGGCATGGGC - - CATCCTGGCATGGGC CATCCTGGCATGGGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr3:10861452_10861466delCATCCTGGCATGGGC uc003bvz.2 + 3 481_495 c.447_461delCATCCTGGCATGGGC c.(445-462)ATCATCCTGGCATGGGCC>ATC p.ILAWA150del SLC6A11_uc003bvy.1_In_Frame_Del_p.ILAWA150del NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 150_154 Extracellular (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) ACTACATCATCATCCTGGCATGGGCCATTTTTTAC 0.488 NA 12 153 --- --- --- --- NA NA NA NA NA HADH 3033 broad.mit.edu 37 4 108948874 108948875 + Frame_Shift_Ins INS - - T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr4:108948874_108948875insT uc003hyq.2 + 6 816_817 c.667_668insT c.(667-669)CTGfs p.L223fs HADH_uc010ilx.2_Frame_Shift_Ins_p.L223fs|HADH_uc010ily.2_Frame_Shift_Ins_p.L46fs|HADH_uc003hyr.2_Frame_Shift_Ins_p.L227fs NM_005327 NP_005318 Q16836 HCDH_HUMAN L-3-hydroxyacyl-Coenzyme A dehydrogenase 223 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) GAACCGCCTCCTGGTTCCATAC 0.47 NA 28 89 --- --- --- --- NA NA NA NA NA TRIM15 89870 broad.mit.edu 37 6 30131581 30131582 + Frame_Shift_Del DEL CC CC - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:30131581_30131582delCC uc010jrx.2 + 1 599_600 c.120_121delCC c.(118-123)CTCCCCfs p.L40fs TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 40_41 RING-type. mesodermal cell fate determination intracellular zinc ion binding 0 GGCTCTGCCTCCCCGCGCTCTC 0.663 NA 9 52 --- --- --- --- NA NA NA NA NA FANCE 2178 broad.mit.edu 37 6 35424046 35424046 + Frame_Shift_Del DEL G G - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:35424046delG uc003oko.1 + 2 956 c.771delG c.(769-771)ATGfs p.M257fs FANCE_uc010jvw.1_Frame_Shift_Del_p.M257fs NM_021922 NP_068741 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 257 Interaction with FANCC. DNA repair nucleoplasm protein binding ovary(1)|lung(1)|skin(1) 3 AGCCTGTCATGGCAGTTAAGA 0.498 NA N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 48 180 --- --- --- --- NA NA NA NA NA KIAA1009 22832 broad.mit.edu 37 6 84922740 84922740 + Frame_Shift_Del DEL T T - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr6:84922740delT uc010kbp.2 - 6 603 c.506delA c.(505-507)AATfs p.N169fs KIAA1009_uc003pkj.3_Frame_Shift_Del_p.N93fs|KIAA1009_uc003pkk.2_Frame_Shift_Del_p.N169fs NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 169 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) GTTGGCTTGATTACTGGaaaa 0.284 NA 2 4 --- --- --- --- NA NA NA NA NA STEAP1 26872 broad.mit.edu 37 7 89790346 89790352 + Frame_Shift_Del DEL ATATTTT ATATTTT - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 ATATTTT ATATTTT - - ATATTTT ATATTTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:89790346_89790352delATATTTT uc003ujx.2 + 3 512_518 c.312_318delATATTTT c.(310-318)CAATATTTTfs p.Q104fs STEAP1_uc010lem.2_Frame_Shift_Del_p.Q104fs NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 104_106 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) CCCATCAACAATATTTTTATAAAATTC 0.396 NA 26 95 --- --- --- --- NA NA NA NA NA LAMB1 3912 broad.mit.edu 37 7 107569639 107569640 + Frame_Shift_Ins INS - - TT TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr7:107569639_107569640insTT uc003vew.2 - 31 5091_5092 c.4756_4757insAA c.(4756-4758)ACAfs p.T1586fs LAMB1_uc003vev.2_Frame_Shift_Ins_p.T1610fs|LAMB1_uc003veu.2_Frame_Shift_Ins_p.T69fs NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1586 Potential.|Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTAACATCTGTTGCACTTTTG 0.386 NA 20 139 --- --- --- --- NA NA NA NA NA LPAR1 1902 broad.mit.edu 37 9 113704241 113704241 + Frame_Shift_Del DEL A A - TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chr9:113704241delA uc004bfa.2 - 4 508 c.253delT c.(253-255)TATfs p.Y85fs LPAR1_uc011lwm.1_Frame_Shift_Del_p.Y86fs|LPAR1_uc004bfb.2_Frame_Shift_Del_p.Y85fs|LPAR1_uc004bfc.2_Frame_Shift_Del_p.Y85fs|LPAR1_uc011lwn.1_Frame_Shift_Del_p.Y67fs|LPAR1_uc011lwo.1_Frame_Shift_Del_p.Y86fs|LPAR1_uc010mub.2_Frame_Shift_Del_p.Y85fs NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 85 Helical; Name=2; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 ATTAGGTAATAAATAGGAAAA 0.458 NSCLC(115;661 2323 9836 34256) NA 21 109 --- --- --- --- NA NA NA NA NA NLGN4X 57502 broad.mit.edu 37 X 5821268 5821269 + Frame_Shift_Ins INS - - A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:5821268_5821269insA uc010ndh.2 - 5 1951_1952 c.1450_1451insT c.(1450-1452)TGGfs p.W484fs NLGN4X_uc004crp.2_Frame_Shift_Ins_p.W504fs|NLGN4X_uc004crq.2_Frame_Shift_Ins_p.W484fs|NLGN4X_uc010ndi.2_Frame_Shift_Ins_p.W521fs|NLGN4X_uc004crr.2_Frame_Shift_Ins_p.W484fs|NLGN4X_uc010ndj.2_Frame_Shift_Ins_p.W484fs NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 484 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 CGAATCTGCCCAGCTGGGCTTC 0.594 NA 12 118 --- --- --- --- NA NA NA NA NA ERCC6L 54821 broad.mit.edu 37 X 71426054 71426055 + Frame_Shift_Ins INS - - T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 32a0f0f3-3879-4b96-b9bb-eeab87827f6e 2caae538-5cfd-474a-8619-f44f80e1ac9f g.chrX:71426054_71426055insT uc004eaq.1 - 2 2659_2660 c.2562_2563insA c.(2560-2565)CAAGAGfs p.Q854fs PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Frame_Shift_Ins_p.Q731fs NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 854_855 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) TGCAGTGCCTCTTGCTTAGGCC 0.366 NA 10 70 --- --- --- --- NA NA NA NA NA