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 SAMD11 148398 broad.mit.edu 37 1 877627 877627 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:877627C>A uc001abw.1 + 9 1061 c.981C>A c.(979-981)ACC>ACA p.T327T SAMD11_uc001abx.1_Silent_p.T190T NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 327 nucleus 0 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TGTGCCAGACCCCAGGTGAGG 0.741 NA 4 11 2.56e-06 2.88608e-06 0.009096 1 0 MXRA8 54587 broad.mit.edu 37 1 1290476 1290476 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:1290476C>T uc001aew.2 - 5 566 c.535G>A c.(535-537)GGC>AGC p.G179S MXRA8_uc001aex.3_Missense_Mutation_p.G179S|MXRA8_uc001aey.3_Missense_Mutation_p.G179S|MXRA8_uc010nyl.1_Missense_Mutation_p.G179S|MXRA8_uc001aez.2_Missense_Mutation_p.G78S|MXRA8_uc001afa.2_Missense_Mutation_p.G170S NM_032348 NP_115724 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 precursor 179 Ig-like V-type 2.|Extracellular (Potential). integral to membrane 0 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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCGGGTGCGCCGCGCGCCACC 0.502 NA 8 3 0 0 0.004482 0 0 CCNL2 81669 broad.mit.edu 37 1 1325635 1325635 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:1325635C>T uc001afi.2 - 8 1013 c.981G>A c.(979-981)TCG>TCA p.S327S CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Silent_p.S105S|CCNL2_uc001afg.1_Silent_p.S105S|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 327 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GAGAGAACCCCGAGGTACCAT 0.592 NA 31 89 0 0 0.002445 0 0 Unknown 0 broad.mit.edu 37 1 1857248 1857248 + Missense_Mutation SNP C C T rs140276373 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:1857248C>T uc001aik.2 - 5 926 c.76G>A c.(76-78)GGA>AGA p.G26R uc001ail.2_Missense_Mutation_p.G26R RecName: Full=Uncharacterized protein C1orf222; NA ACAGACTCTCCGGCAATCACA 0.622 NA 3 68 0 0 0.009096 0 0 LRRC47 57470 broad.mit.edu 37 1 3701738 3701738 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:3701738C>A uc001akx.1 - 3 1135 c.1107G>T c.(1105-1107)AAG>AAT p.K369N NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 369 translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CAGCCGTCCTCTTCTCACAGA 0.617 NA 38 63 3.05275e-18 4.30199e-18 0.003214 1 0 UBE4B 10277 broad.mit.edu 37 1 10197236 10197236 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:10197236G>C uc001aqs.3 + 17 3049 c.2336G>C c.(2335-2337)AGA>ACA p.R779T UBE4B_uc001aqr.3_Missense_Mutation_p.R650T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.R234T|UBE4B_uc001aqt.1_Missense_Mutation_p.R119T NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 779 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TATATCCGCAGACTCCGGGCT 0.522 NA 28 159 0 0 0.004289 0 0 CASZ1 54897 broad.mit.edu 37 1 10713921 10713921 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:10713921C>A uc001aro.2 - 11 2513 c.2193G>T c.(2191-2193)CTG>CTT p.L731L CASZ1_uc001arp.1_Silent_p.L731L|CASZ1_uc009vmx.2_Silent_p.L755L NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 731 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TCTTGCTGCTCAGGGCGGAGA 0.701 NA 33 58 1.76056e-25 2.63561e-25 0.002852 1 0 MTOR 2475 broad.mit.edu 37 1 11298459 11298459 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:11298459C>A uc001asd.2 - 12 2123 c.2002G>T c.(2002-2004)GAC>TAC p.D668Y NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 668 HEAT 2. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 CAAGCCTTACCAGGATCTGTT 0.507 NA 42 81 4.01344e-20 5.75221e-20 0.00361 1 0 MTOR 2475 broad.mit.edu 37 1 11300539 11300539 + Missense_Mutation SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:11300539T>G uc001asd.2 - 11 1728 c.1607A>C c.(1606-1608)CAA>CCA p.Q536P NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 536 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TAGCCCATCTTGAATGTCCTT 0.577 NA 39 85 0 0 0.00361 0 0 VPS13D 55187 broad.mit.edu 37 1 12336868 12336868 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:12336868G>A uc001atv.2 + 19 3364 c.3223G>A c.(3223-3225)GAG>AAG p.E1075K VPS13D_uc001atw.2_Missense_Mutation_p.E1075K|VPS13D_uc001atx.2_Missense_Mutation_p.E263K NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1075 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCTTACCAAAGAGCAAGAGTC 0.438 NA OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 154 0 0 0.00632 0 0 DHRS3 9249 broad.mit.edu 37 1 12677211 12677211 + Missense_Mutation SNP C C T rs147390617 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:12677211C>T uc001auc.2 - 1 610 c.143G>A c.(142-144)AGA>AAA p.R48K DHRS3_uc001aub.2_5'Flank|DHRS3_uc009vnm.2_Missense_Mutation_p.R48K|DHRS3_uc001aud.3_Missense_Mutation_p.R48K NM_004753 NP_004744 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 48 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding skin(1) 1 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) CCCGATGCCTCTCCCGCCGCC 0.701 NA 15 76 0 0 0.007413 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954896 12954896 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:12954896C>T uc001auo.2 - 3 460 c.387G>A c.(385-387)ATG>ATA p.M129I NM_001039361 NP_001034450 O60809 PRA10_HUMAN PRAME family member 10 129 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;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCCTCTTACTCATGGCCTCTG 0.522 NA 5 110 0 0 0.001168 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001282 13001283 + Missense_Mutation DNP GG GG TT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:13001282_13001283GG>TT uc001auq.2 - 3 486_487 c.400_401CC>AA c.(400-402)CCA>AAA p.P134K PRAMEF5_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN PRAME family member 6 134 0 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTCCTGCACTGGTGTTTTGTTC 0.505 NA 36 701 0 0 0.004672 0 0 NBPF1 55672 broad.mit.edu 37 1 16902836 16902836 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:16902836T>A uc009vos.1 - 19 2933 c.2045A>T c.(2044-2046)CAG>CTG p.Q682L NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.Q140L|NBPF1_uc010oce.1_Missense_Mutation_p.Q411L NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 682 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GTCCTGCCCCTGGGACTTGTC 0.577 NA 16 722 0 0 0.006122 0 0 C1QA 712 broad.mit.edu 37 1 22965874 22965875 + Missense_Mutation DNP GG GG AT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:22965874_22965875GG>AT uc001bfy.2 + 3 797_798 c.712_713GG>AT c.(712-714)GGC>ATC p.G238I C1QA_uc001bfz.2_Missense_Mutation_p.G238I NM_015991 NP_057075 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 238 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CGTCTTCAGCGGCTTCCTCATC 0.589 NA 4 40 0 0 0.004672 0 0 E2F2 1870 broad.mit.edu 37 1 23845603 23845603 + Nonsense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:23845603G>A uc001bhe.1 - 5 1185 c.757C>T c.(757-759)CAG>TAG p.Q253* NM_004091 NP_004082 Q14209 E2F2_HUMAN E2F transcription factor 2 253 Dimerization (Potential). G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|skin(2) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) CGGATATCCTGGTAAGTCACA 0.547 NA 18 106 0 0 0.001882 0 0 TCEB3 6924 broad.mit.edu 37 1 24077613 24077613 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:24077613A>C uc001bho.2 + 4 656 c.596A>C c.(595-597)GAT>GCT p.D199A NM_003198 NP_003189 Q14241 ELOA1_HUMAN elongin A 199 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GAGTCTTCTGATTATGGCCAT 0.493 NA OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 131 0 0 0.00361 0 0 SEPN1 57190 broad.mit.edu 37 1 26139212 26139212 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:26139212G>A uc010oer.1 + 12 1371 c.1316G>A c.(1315-1317)CGA>CAA p.R439Q SEPN1_uc010oes.1_Missense_Mutation_p.R405Q NM_020451 NP_065184 Q9NZV5 SELN_HUMAN selenoprotein N, 1 isoform 1 precursor 439 endoplasmic reticulum membrane|extracellular region protein binding ovary(2) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|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;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) GCCTTCGACCGAGCCAAGGCT 0.632 NA 8 33 0 0 0.000978 0 0 FCN3 8547 broad.mit.edu 37 1 27695848 27695848 + Missense_Mutation SNP C C A rs143244488 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:27695848C>A uc001boa.2 - 8 785 c.779G>T c.(778-780)CGA>CTA p.R260L MAP3K6_uc001bny.1_5'Flank|MAP3K6_uc009vsw.1_5'Flank|FCN3_uc001bob.2_Missense_Mutation_p.R249L NM_003665 NP_003656 O75636 FCN3_HUMAN ficolin 3 isoform 1 precursor 260 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding 0 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GAGATTTGATCGGTAACAGGA 0.567 NA 20 124 6.21321e-17 8.58785e-17 0.00278 1 0 TMEM39B 55116 broad.mit.edu 37 1 32560511 32560511 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:32560511G>T uc010ogv.1 + 7 1200 c.1054G>T c.(1054-1056)GCC>TCC p.A352S TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.A225S|TMEM39B_uc001bue.3_Missense_Mutation_p.A353S|TMEM39B_uc001buf.3_Missense_Mutation_p.A153S|TMEM39B_uc010ogw.1_Missense_Mutation_p.A153S NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 352 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CAAGGCCGCCGCCCATCTGGG 0.622 NA 4 50 0.00909568 0.00941286 0.009096 1 0 KIAA1522 57648 broad.mit.edu 37 1 33236708 33236708 + Nonsense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:33236708C>G uc001bvv.2 + 6 1887 c.1751C>G c.(1750-1752)TCA>TGA p.S584* KIAA1522_uc001bvu.1_Nonsense_Mutation_p.S643*|KIAA1522_uc010ohm.1_Nonsense_Mutation_p.S595*|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 584 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCAGCCCCCTCAGACCGCTCT 0.622 NA 20 160 0 0 0.004656 0 0 TMEM54 113452 broad.mit.edu 37 1 33361010 33361010 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:33361010G>A uc001bwi.1 - 5 604 c.490C>T c.(490-492)CTA>TTA p.L164L TMEM54_uc001bwj.1_Silent_p.L111L|TMEM54_uc001bwk.1_Silent_p.L144L NM_033504 NP_277039 Q969K7 TMM54_HUMAN transmembrane protein 54 164 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CAGAGCACTAGGGCGATGCCC 0.647 NA 5 51 0 0 0.000602 0 0 CSMD2 114784 broad.mit.edu 37 1 34037242 34037242 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:34037242G>T uc001bxn.1 - 52 7882 c.7853C>A c.(7852-7854)GCC>GAC p.A2618D CSMD2_uc001bxm.1_Missense_Mutation_p.A2616D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2618 Sushi 16.|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) CATCAGCTGGGCCTGGAACTG 0.547 NA 73 72 1.32003e-40 2.10081e-40 0.00361 1 0 ZMYM4 9202 broad.mit.edu 37 1 35854605 35854605 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:35854605A>G uc001byt.2 + 14 2438 c.2358A>G c.(2356-2358)GTA>GTG p.V786V ZMYM4_uc009vuu.2_Silent_p.V754V|ZMYM4_uc001byu.2_Silent_p.V462V|ZMYM4_uc009vuv.2_Silent_p.V525V NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 786 MYM-type 8. multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCAAATTGGTACAGAATAATT 0.353 NA 5 137 0 0 0.001984 0 0 INPP5B 3633 broad.mit.edu 37 1 38334220 38334220 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:38334220C>G uc001ccg.1 - 20 2348 c.2254G>C c.(2254-2256)GAG>CAG p.E752Q INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccf.1_Missense_Mutation_p.E588Q NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 832 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATCCAGAGCTCTTTGGGGATT 0.493 NA 15 95 0 0 0.006122 0 0 NT5C1A 84618 broad.mit.edu 37 1 40124910 40124910 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:40124910C>A uc001cdq.1 - 6 990 c.990G>T c.(988-990)CAG>CAT p.Q330H NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 330 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CATGGAACATCTGGTCATCAA 0.607 NA 10 53 1.33987e-11 1.70268e-11 0.008291 1 0 RNF220 55182 broad.mit.edu 37 1 44878028 44878028 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:44878028G>T uc001clv.1 + 2 619 c.259G>T c.(259-261)GAT>TAT p.D87Y RNF220_uc001clw.1_Missense_Mutation_p.D87Y NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 87 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TGCCAATCGTGATTTCCCCCC 0.498 NA 81 331 1.30168e-36 2.04898e-36 0.00361 1 0 PRDX1 5052 broad.mit.edu 37 1 45977049 45977049 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:45977049G>C uc001cnz.2 - 5 584 c.552C>G c.(550-552)ATC>ATG p.I184M PRDX1_uc001coa.2_Missense_Mutation_p.I184M|PRDX1_uc001cob.2_Missense_Mutation_p.I184M|PRDX1_uc001coc.2_Missense_Mutation_p.I184M NM_181697 NP_859048 Q06830 PRDX1_HUMAN peroxiredoxin 1 184 cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity 0 Acute lymphoblastic leukemia(166;0.155) CATCAGGCTTGATGGTATCAC 0.488 NA 56 219 0 0 0.00361 0 0 POMGNT1 55624 broad.mit.edu 37 1 46655023 46655023 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:46655023C>A uc001cpe.2 - 22 2066 c.1902G>T c.(1900-1902)AAG>AAT p.K634N POMGNT1_uc010olx.1_Missense_Mutation_p.K612N|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.K491N|POMGNT1_uc001cpg.2_Nonsense_Mutation_p.E626*|POMGNT1_uc001cpf.2_Missense_Mutation_p.K301N NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 634 Lumenal (Potential). protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AGGGTGGCTTCTTCACTCTGG 0.532 NA 21 55 3.6726e-16 5.02803e-16 0.003954 1 0 RAD54L 8438 broad.mit.edu 37 1 46714216 46714216 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:46714216G>C uc009vye.2 + 3 150 c.36G>C c.(34-36)AAG>AAC p.K12N RAD54L_uc001cpl.2_Missense_Mutation_p.K12N NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 12 meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) AGCTGGCCAAGAGAAAACCTG 0.562 NA Direct_reversal_of_damage|Homologous_recombination 7 36 0 0 0.00308 0 0 LRRC42 115353 broad.mit.edu 37 1 54427715 54427715 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:54427715G>A uc001cwj.1 + 5 933 c.733G>A c.(733-735)GAG>AAG p.E245K LRRC42_uc001cwl.1_Missense_Mutation_p.E245K|LRRC42_uc001cwk.1_Missense_Mutation_p.E245K|LRRC42_uc009vzm.1_Missense_Mutation_p.E245K NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 245 LRR 4. 0 AGGTAACCCTGAGATCACAGA 0.398 NA 11 71 0 0 0.000978 0 0 SSBP3 23648 broad.mit.edu 37 1 54722799 54722799 + Splice_Site SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:54722799C>A uc001cxe.2 - 7 805 c.507_splice c.e7+1 p.Q169_splice SSBP3_uc001cxf.2_Intron|SSBP3_uc001cxg.2_Splice_Site_p.Q142_splice NM_145716 NP_663768 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 isoform a regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding 0 AGGTACAGTACCTGGTTTCCC 0.512 NA 9 14 9.31168e-06 1.03818e-05 0.001855 1 0 DAB1 1600 broad.mit.edu 37 1 57602315 57602315 + Splice_Site SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:57602315C>A uc001cys.1 - 6 882 c.208_splice c.e6-1 p.G70_splice DAB1_uc001cyt.1_Splice_Site_p.G70_splice|DAB1_uc001cyq.1_Splice_Site_p.G70_splice|DAB1_uc001cyr.1_Splice_Site_p.G70_splice|DAB1_uc009vzw.1_Splice_Site_p.G70_splice|DAB1_uc009vzx.1_Splice_Site_p.G70_splice NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 cell differentiation|nervous system development skin(2)|ovary(1) 3 CAACAACGCCCTGTTGAAAGG 0.413 NA 4 21 3.59834e-05 3.95073e-05 0.001168 1 0 PTGER3 5733 broad.mit.edu 37 1 71478037 71478037 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:71478037G>A uc001dfg.1 - 2 1259 c.1028C>T c.(1027-1029)CCT>CTT p.P343L PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.P343L|PTGER3_uc001dfl.1_Missense_Mutation_p.P343L|PTGER3_uc009wbm.1_Missense_Mutation_p.P343L|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.P343L|PTGER3_uc009wbn.1_Missense_Mutation_p.P343L|PTGER3_uc009wbo.2_Missense_Mutation_p.P343L|PTGER3_uc001dfo.2_Missense_Mutation_p.P343L|PTGER3_uc001dfp.1_Missense_Mutation_p.P343L|PTGER3_uc001dfq.2_Missense_Mutation_p.P343L NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 343 Helical; Name=7; (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) GTAAACCCAAGGATCCAAGAT 0.463 NA 16 11 0 0 0.006122 0 0 SLC44A5 204962 broad.mit.edu 37 1 75699726 75699726 + Silent SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:75699726T>G uc001dgu.2 - 12 942 c.798A>C c.(796-798)ATA>ATC p.I266I SLC44A5_uc001dgt.2_Silent_p.I266I|SLC44A5_uc001dgs.2_Silent_p.I224I|SLC44A5_uc001dgr.2_Silent_p.I224I|SLC44A5_uc010oqz.1_Silent_p.I305I|SLC44A5_uc010ora.1_Silent_p.I260I|SLC44A5_uc010orb.1_Silent_p.I136I NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 266 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 GGCATCCAGCTATGAACCTCA 0.393 NA 17 48 0 0 0.010504 0 0 BCAR3 8412 broad.mit.edu 37 1 94041662 94041662 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:94041662C>G uc001dpz.2 - 8 1986 c.1711G>C c.(1711-1713)GAA>CAA p.E571Q BCAR3_uc001dqa.2_Missense_Mutation_p.E571Q|BCAR3_uc001dqb.2_Missense_Mutation_p.E571Q|BCAR3_uc001dpx.3_Missense_Mutation_p.E247Q|BCAR3_uc001dpy.2_Missense_Mutation_p.E480Q|BCAR3_uc009wdm.1_Missense_Mutation_p.E247Q NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 571 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) CTCATCTCTTCAGAGACTCCA 0.493 NA 4 72 0 0 0.000602 0 0 ABCA4 24 broad.mit.edu 37 1 94512642 94512642 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:94512642G>T uc001dqh.2 - 19 2855 c.2751C>A c.(2749-2751)TTC>TTA p.F917L ABCA4_uc010otn.1_Missense_Mutation_p.F843L NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 917 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CACGTTCAAAGAAGGAGTCTT 0.488 NA 29 66 3.90053e-15 5.26154e-15 0.002445 1 0 OLFM3 118427 broad.mit.edu 37 1 102290757 102290757 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:102290757C>A uc001duf.2 - 4 548 c.477G>T c.(475-477)GTG>GTT p.V159V OLFM3_uc001dug.2_Silent_p.V139V|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.V64V|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 159 Potential. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) ACTGTTCCAGCACGGGGATCA 0.443 NA 9 23 7.03913e-09 8.45533e-09 0.001368 1 0 PRMT6 55170 broad.mit.edu 37 1 107599563 107599563 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:107599563C>T uc010ous.1 + 1 297 c.226C>T c.(226-228)CGG>TGG p.R76W NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 76 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GGGTATCCTTCGGAACTGGGC 0.657 NA 14 43 0 0 0.006122 0 0 EPS8L3 79574 broad.mit.edu 37 1 110302000 110302000 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:110302000C>G uc001dyr.1 - 5 410 c.265G>C c.(265-267)GAC>CAC p.D89H EPS8L3_uc001dys.1_Missense_Mutation_p.D89H|EPS8L3_uc001dyq.1_Missense_Mutation_p.D89H|EPS8L3_uc009wfm.1_Missense_Mutation_p.D55H|EPS8L3_uc009wfn.1_Missense_Mutation_p.D55H|EPS8L3_uc009wfo.1_Missense_Mutation_p.D36H NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 89 cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CGGTAAGAGTCCAGCTCCTCC 0.602 NA 20 87 0 0 0.010504 0 0 SPAG17 200162 broad.mit.edu 37 1 118574335 118574335 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:118574335G>T uc001ehk.2 - 25 3657 c.3589C>A c.(3589-3591)CCA>ACA p.P1197T NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1197 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCTTCTTTTGGGTGTTCTTCT 0.358 NA 10 32 2.80697e-09 3.38784e-09 0.000978 1 0 PHGDH 26227 broad.mit.edu 37 1 120284452 120284452 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:120284452G>C uc001ehz.2 + 10 1368 c.1141G>C c.(1141-1143)GAG>CAG p.E381Q PHGDH_uc009whm.2_Missense_Mutation_p.E279Q|PHGDH_uc001eia.2_Missense_Mutation_p.E380Q|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Missense_Mutation_p.E347Q|PHGDH_uc001eic.2_5'Flank NM_006623 NP_006614 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 381 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity ovary(1) 1 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CCTCCTGAAAGAGGCTTCCAA 0.577 NA 12 45 0 0 0.003163 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458346 120458346 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:120458346C>A uc001eik.2 - 34 7255 c.6999G>T c.(6997-6999)GCG>GCT p.A2333A NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 2333 Cytoplasmic (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) GCAGGGGGCCCGCAACAGCTG 0.627 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 45 71 2.56175e-15 3.46024e-15 0.00361 1 0 PIAS3 10401 broad.mit.edu 37 1 145580549 145580549 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:145580549A>G uc001eoc.1 + 7 940 c.849A>G c.(847-849)GGA>GGG p.G283G NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_5'UTR NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 283 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGACTGCAGGAACCCTTCTAC 0.522 NA 15 74 0 0 0.010504 0 0 GPR89A 653519 broad.mit.edu 37 1 145826927 145826927 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:145826927C>G uc001eot.2 - 1 177 c.3G>C c.(1-3)ATG>ATC p.M1I NBPF10_uc001emp.3_Intron|GPR89A_uc010ozb.1_5'Flank|GPR89A_uc001eos.2_5'UTR|GPR89A_uc010ozc.1_5'UTR|GPR89A_uc010ozd.1_5'UTR|GPR89A_uc010oze.1_Missense_Mutation_p.M1I NM_001097612 NP_001091081 B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A isoform 1 1 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TGAGGAAACTCATGGCGAAGT 0.642 NA 8 57 0 0 0.000978 0 0 HRNR 388697 broad.mit.edu 37 1 152188343 152188343 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:152188343G>A uc001ezt.1 - 3 5838 c.5762C>T c.(5761-5763)TCC>TTC p.S1921F NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1921 21. 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) ACCATAGCTGGAAGATGAACC 0.577 NA 78 814 0 0 0.00361 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122394 153122394 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:153122394G>T uc009wod.1 - 2 314 c.193C>A c.(193-195)CAG>AAG p.Q65K NM_001014291 NP_001014313 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 65 keratinization cornified envelope|cytoplasm 0 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TACTTCTGCTGGCAGGGTGGG 0.527 NA 26 74 9.90768e-06 1.10341e-05 0.004656 1 0 CRTC2 200186 broad.mit.edu 37 1 153924717 153924717 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:153924717C>A uc010ped.1 - 10 844 c.774G>T c.(772-774)CAG>CAT p.Q258H CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 258 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CATTGGCAGGCTGGTCAGGAG 0.577 NA 43 54 8.00217e-19 1.13242e-18 0.00361 1 0 HAX1 10456 broad.mit.edu 37 1 154247910 154247910 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:154247910G>T uc001fes.2 + 6 866 c.705G>T c.(703-705)CGG>CGT p.R235R HAX1_uc001fet.2_Silent_p.R187R|HAX1_uc010peo.1_Silent_p.R243R|HAX1_uc009wou.2_Silent_p.R160R|HAX1_uc009wov.2_Silent_p.R209R NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 235 Involved in PKD2 binding.|Involved in ATP2A2 binding.|Involved in HCLS1 binding.|Involved in GNA13 binding.|Required for localization in sarcoplasmic reticulum (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTGAGGGCCGGACAGAGACTA 0.493 NA Kostmann_syndrome 43 135 3.7469e-33 5.80741e-33 0.00361 1 0 C1orf182 128229 broad.mit.edu 37 1 156316642 156316642 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:156316642C>G uc001foo.2 + 4 609 c.247C>G c.(247-249)CAG>GAG p.Q83E C1orf182_uc009wry.2_Missense_Mutation_p.Q83E|C1orf182_uc001fop.3_Missense_Mutation_p.Q83E NM_144627 NP_653228 Q96A04 CA182_HUMAN SSTK-interacting protein 83 0 Hepatocellular(266;0.158) CGCCCAACAACAGATGGCTGT 0.488 NA 11 207 0 0 0.003163 0 0 C1orf61 10485 broad.mit.edu 37 1 156386590 156386590 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:156386590G>T uc001fou.1 - 3 159 c.42C>A c.(40-42)AAC>AAA p.N14K C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001foy.1_Intron NM_006365 NP_006356 Q13536 CROC4_HUMAN transcriptional activator of the c-fos promoter 14 nucleus skin(1) 1 Hepatocellular(266;0.158) AAAGGAGGAAGTTCCTCAAGT 0.463 NA 61 93 2.40655e-23 3.55522e-23 0.00361 1 0 IQGAP3 128239 broad.mit.edu 37 1 156507059 156507059 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:156507059C>G uc001fpf.2 - 27 3411 c.3336G>C c.(3334-3336)CAG>CAC p.Q1112H NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1112 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCAGTCGTCTCTGGACCTCGG 0.552 NA 9 70 0 0 0.004482 0 0 INSRR 3645 broad.mit.edu 37 1 156815791 156815791 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:156815791C>A uc010pht.1 - 9 2185 c.1931G>T c.(1930-1932)CGG>CTG p.R644L NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 644 Fibronectin type-III 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTCTGCCAGCCGCTGCCACAG 0.677 NA 24 31 7.41945e-09 8.90158e-09 0.005443 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156914953 156914953 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:156914953C>A uc001fqo.2 - 29 3769 c.2729G>T c.(2728-2730)CGG>CTG p.R910L ARHGEF11_uc010phu.1_Missense_Mutation_p.R326L|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R950L NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 910 DH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCACTGGTCCCGGGCCCGGCA 0.562 NA 43 77 2.17126e-26 3.27474e-26 0.00361 1 0 KIRREL 55243 broad.mit.edu 37 1 158045998 158045998 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:158045998A>T uc001frn.3 + 2 552 c.148A>T c.(148-150)ATT>TTT p.I50F KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_5'UTR NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 50 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CTACTCTGGAATTGTGCAATG 0.637 NA 34 93 0 0 0.006999 0 0 MNDA 4332 broad.mit.edu 37 1 158817648 158817648 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:158817648A>C uc001fsz.1 + 6 1318 c.1118A>C c.(1117-1119)CAA>CCA p.Q373P NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 373 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) TTCTGCCTTCAACTGAGAACA 0.443 NA 6 143 0 0 0.001984 0 0 NCSTN 23385 broad.mit.edu 37 1 160324062 160324062 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:160324062C>T uc001fvx.2 + 11 1458 c.1334C>T c.(1333-1335)TCT>TTT p.S445F NCSTN_uc001fvy.2_Missense_Mutation_p.S425F|NCSTN_uc010pjf.1_Missense_Mutation_p.S307F|NCSTN_uc001fvz.2_Missense_Mutation_p.S225F|NCSTN_uc010pjg.1_Missense_Mutation_p.S187F NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 445 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTGACCACTCTGGTGCCTTC 0.532 NA 18 114 0 0 0.002299 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161168182 161168182 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:161168182G>T uc001fyt.3 - 1 664 c.236C>A c.(235-237)GCC>GAC p.A79D ADAMTS4_uc001fyu.2_Missense_Mutation_p.A79D|NDUFS2_uc001fyv.2_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 79 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAACAGCCTGGCAGGGGCGCC 0.677 NA 10 8 6.40141e-05 6.99029e-05 0.000978 1 0 UHMK1 127933 broad.mit.edu 37 1 162470701 162470701 + Splice_Site SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:162470701A>T uc001gcc.1 + 3 698 c.562_splice c.e3-2 p.D188_splice UHMK1_uc001gcb.1_Splice_Site_p.D114_splice|UHMK1_uc009wuu.1_Splice_Site_p.D188_splice NM_175866 NP_787062 Q8TAS1 UHMK1_HUMAN kinase interacting stathmin cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding 0 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CATCTTTTTTAGGATGTAAAG 0.423 NA 23 28 0 0 0.003954 0 0 DDR2 4921 broad.mit.edu 37 1 162740159 162740159 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:162740159T>A uc001gcf.2 + 13 1826 c.1361T>A c.(1360-1362)TTC>TAC p.F454Y DDR2_uc001gcg.2_Missense_Mutation_p.F454Y NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 454 Cytoplasmic (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCTAGCATGTTCAACAATAAC 0.512 NSCLC(161;314 2006 8283 19651 23192) NA 87 111 0 0 0.00361 0 0 C1orf110 339512 broad.mit.edu 37 1 162825131 162825131 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:162825131C>A uc001gck.2 - 4 508 c.333G>T c.(331-333)ATG>ATT p.M111I C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.M110I NM_178550 NP_848645 Q86UF4 CA110_HUMAN hypothetical protein LOC339512 111 0 TGTCTTGGGCCATACGGGTTG 0.443 NA 73 121 1.55023e-36 2.43642e-36 0.00361 1 0 TADA1 117143 broad.mit.edu 37 1 166839042 166839042 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:166839042C>T uc001gdw.2 - 2 308 c.124G>A c.(124-126)GAG>AAG p.E42K TADA1_uc009wve.2_Missense_Mutation_p.E42K NM_053053 NP_444281 Q96BN2 TADA1_HUMAN transcriptional adaptor 1-like 42 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(1) 1 AGGTCAAACTCCTCTTTGCTG 0.383 NA 34 135 0 0 0.002522 0 0 ADCY10 55811 broad.mit.edu 37 1 167865910 167865910 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:167865910G>T uc001ger.2 - 7 960 c.662C>A c.(661-663)CCC>CAC p.P221H ADCY10_uc009wvk.2_Missense_Mutation_p.P129H|ADCY10_uc010plj.1_Missense_Mutation_p.P68H|ADCY10_uc009wvl.2_Missense_Mutation_p.P220H|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 221 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 AAAATTGGGGGGTGGTTTTAA 0.328 NA 103 95 2.66069e-56 4.34407e-56 0.00361 1 0 ASTN1 460 broad.mit.edu 37 1 176905466 176905466 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:176905466C>A uc001glc.2 - 15 2630 c.2418G>T c.(2416-2418)CTG>CTT p.L806L ASTN1_uc001glb.1_Silent_p.L806L|ASTN1_uc001gld.1_Silent_p.L806L|ASTN1_uc009wwx.1_Silent_p.L806L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 814 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCCAGTGCTGCAGCACAGGGT 0.498 NA 32 61 7.61001e-30 1.16341e-29 0.005524 1 0 RASAL2 9462 broad.mit.edu 37 1 178414696 178414696 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:178414696G>T uc001glr.2 + 7 1207 c.1082G>T c.(1081-1083)GGA>GTA p.G361V RASAL2_uc001glq.2_Missense_Mutation_p.G509V NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 361 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 GATCGTTGTGGAGAGCATGAT 0.413 NA 44 109 7.34454e-26 1.10442e-25 0.00361 1 0 ANGPTL1 9068 broad.mit.edu 37 1 178834850 178834850 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:178834850C>A uc001gma.2 - 3 538 c.62G>T c.(61-63)TGC>TTC p.C21F RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.C21F|ANGPTL1_uc010pnc.1_5'UTR NM_004673 NP_004664 O95841 ANGL1_HUMAN angiopoietin-like 1 precursor 21 extracellular space receptor binding 0 TCCACCTCTGCAATGTCCAGT 0.383 NA 10 97 1.61879e-10 2.01649e-10 0.001368 1 0 C1orf125 126859 broad.mit.edu 37 1 179460858 179460858 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:179460858C>A uc001gmo.2 + 19 2404 c.2277C>A c.(2275-2277)TCC>TCA p.S759S C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Silent_p.S759S|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 759 0 ACCAATACTCCAGCTATTTGA 0.413 NA 46 130 2.17126e-26 3.27474e-26 0.00361 1 0 CACNA1E 777 broad.mit.edu 37 1 181767606 181767606 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:181767606C>G uc001gow.2 + 47 6614 c.6449C>G c.(6448-6450)TCC>TGC p.S2150C CACNA1E_uc009wxs.2_Missense_Mutation_p.S2038C|CACNA1E_uc009wxt.2_Missense_Mutation_p.S1419C NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2193 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GAGGAGGGCTCCCCGCTGACC 0.647 NA 11 60 0 0 0.008291 0 0 GLUL 2752 broad.mit.edu 37 1 182353781 182353781 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:182353781A>G uc001gpa.1 - 7 1093 c.881T>C c.(880-882)CTG>CCG p.L294P GLUL_uc010pnt.1_Missense_Mutation_p.L81P|GLUL_uc001gpb.1_Missense_Mutation_p.L294P|GLUL_uc001gpc.1_Missense_Mutation_p.L294P|GLUL_uc001gpd.1_Missense_Mutation_p.L294P NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 294 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) GGCATTGTCCAGGCCTCCCTT 0.522 NA 29 72 0 0 0.005524 0 0 NCF2 4688 broad.mit.edu 37 1 183529285 183529285 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:183529285G>C uc001gqj.3 - 14 1689 c.1414C>G c.(1414-1416)CAA>GAA p.Q472E NCF2_uc010pod.1_Missense_Mutation_p.Q427E|NCF2_uc010poe.1_Missense_Mutation_p.Q391E|NCF2_uc001gqk.3_Missense_Mutation_p.Q472E NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 472 SH3 2. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 TCCTCTGGTTGGGTAGCCTCA 0.438 NA 19 156 0 0 0.002299 0 0 GLT25D2 23127 broad.mit.edu 37 1 183913414 183913414 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:183913414T>A uc001gqr.2 - 10 1685 c.1313A>T c.(1312-1314)GAT>GTT p.D438V GLT25D2_uc010poj.1_Missense_Mutation_p.D438V|GLT25D2_uc001gqp.2_Missense_Mutation_p.D46V|GLT25D2_uc001gqq.2_Missense_Mutation_p.D175V|GLT25D2_uc001gqs.2_Missense_Mutation_p.D318V NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 438 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 AAAACGCACATCGTCTTCAAT 0.403 Esophageal Squamous(10;42 606 18489 38825) NA 27 44 0 0 0.009535 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186908349 186908349 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:186908349C>A uc001gsc.2 + 9 1110 c.905C>A c.(904-906)ACA>AAA p.T302K PLA2G4A_uc010pos.1_Missense_Mutation_p.T242K NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 302 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) ATAGGAGAAACACTAATTCAT 0.274 NA 18 26 1.56452e-12 2.0161e-12 0.007413 1 0 RGS18 64407 broad.mit.edu 37 1 192127878 192127878 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:192127878C>A uc001gsg.2 + 1 287 c.111C>A c.(109-111)GCC>GCA p.A37A NM_130782 NP_570138 Q9NS28 RGS18_HUMAN regulator of G-protein signalling 18 37 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3) 3 GCAAAGAAGCCAAAATCAGGT 0.289 NA 21 39 6.32553e-13 8.21423e-13 0.004656 1 0 RGS2 5997 broad.mit.edu 37 1 192780233 192780233 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:192780233A>G uc001gsl.2 + 4 430 c.397A>G c.(397-399)AGG>GGG p.R133G NM_002923 NP_002914 P41220 RGS2_HUMAN regulator of G-protein signaling 2 133 RGS. cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle cytosol|internal side of plasma membrane|mitochondrion|nucleolus calmodulin binding|GTPase activator activity|signal transducer activity 0 CTCAAAAGCAAGGAAAATATA 0.363 Pancreas(71;51 2183 4981) NA 30 79 0 0 0.004878 0 0 CFH 3075 broad.mit.edu 37 1 196716404 196716404 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:196716404G>T uc001gtj.3 + 22 3897 c.3657G>T c.(3655-3657)TGG>TGT p.W1219C NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1219 Sushi 20. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CAACATGTTGGGATGGGAAAC 0.368 NA 46 64 1.60673e-49 2.5939e-49 0.00361 1 0 ELF3 1999 broad.mit.edu 37 1 201981192 201981192 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:201981192G>A uc001gxg.3 + 2 3463 c.271G>A c.(271-273)GAC>AAC p.D91N ELF3_uc001gxi.3_Missense_Mutation_p.D91N|ELF3_uc001gxh.3_Missense_Mutation_p.D91N NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 91 PNT. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 AAGCGCCATTGACTTCTCACG 0.577 NA 25 89 0 0 0.00632 0 0 SYT2 127833 broad.mit.edu 37 1 202571541 202571541 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:202571541G>T uc001gye.2 - 5 791 c.598C>A c.(598-600)CTG>ATG p.L200M SYT2_uc010pqb.1_Missense_Mutation_p.L200M|SYT2_uc009xaf.2_Missense_Mutation_p.L30M NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 200 Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GCAGGGTTCAGTGTCTTCCGA 0.522 NA 51 114 3.21867e-24 4.77594e-24 0.00361 1 0 ATP2B4 493 broad.mit.edu 37 1 203669355 203669355 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:203669355G>A uc001gzw.2 + 5 1555 c.671G>A c.(670-672)GGA>GAA p.G224E ATP2B4_uc001gzv.2_Missense_Mutation_p.G224E|ATP2B4_uc009xaq.2_Missense_Mutation_p.G224E NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 224 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) CCTGCAGATGGAATCCTGATC 0.512 NA 7 148 0 0 0.001984 0 0 CNTN2 6900 broad.mit.edu 37 1 205042860 205042860 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:205042860G>A uc001hbr.2 + 23 3359 c.3090G>A c.(3088-3090)GCG>GCA p.A1030A CNTN2_uc001hbs.2_Silent_p.A818A NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 1030 axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACTCCGTGGCGATGCTGATCC 0.622 Melanoma(183;2548 2817 37099 41192) NA 10 54 0 0 0.001855 0 0 TMCC2 9911 broad.mit.edu 37 1 205197741 205197741 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:205197741G>A uc001hbz.1 + 2 493 c.49G>A c.(49-51)GAT>AAT p.D17N TMCC2_uc010prf.1_5'Flank NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 17 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GGGCGAGGAGGATGGAGCTGG 0.647 NA 23 48 0 0 0.002096 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779211 205779211 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:205779211A>G uc001hdh.1 - 2 1231 c.359T>C c.(358-360)TTG>TCG p.L120S NM_173854 NP_776253 Q8IVJ1 S41A1_HUMAN solute carrier family 41 member 1 120 Helical; (Potential). integral to membrane|plasma membrane magnesium ion transmembrane transporter activity skin(2) 2 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) CACGATGTCCAACACCATGCC 0.582 NA 13 53 0 0 0.001368 0 0 CTSE 1510 broad.mit.edu 37 1 206317609 206317610 + Silent DNP CC CC TT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:206317609_206317610CC>TT uc001hdu.2 + 1 151_152 c.33_34CC>TT c.(31-36)CTCCTG>CTTTTG p.11_12LL>LL CTSE_uc001hdv.2_Silent_p.11_12LL>LL|CTSE_uc010prs.1_5'UTR NM_001910 NP_001901 P14091 CATE_HUMAN cathepsin E isoform a preproprotein 11_12 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.0754) TGCTGGTGCTCCTGGAGCTGGG 0.599 NA 17 55 0 0 0.004672 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213277908 213277908 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:213277908C>T uc010ptr.1 + 4 534 c.375C>T c.(373-375)TTC>TTT p.F125F RPS6KC1_uc001hkd.2_Silent_p.F113F|RPS6KC1_uc010pts.1_5'UTR|RPS6KC1_uc010ptt.1_5'UTR|RPS6KC1_uc010ptu.1_5'UTR|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_5'UTR NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 125 PX. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AAGACTTTTTCAAGGTTTGGT 0.303 NA 11 65 0 0 0.000978 0 0 USH2A 7399 broad.mit.edu 37 1 216173749 216173749 + Missense_Mutation SNP T T C rs146282882 by1000genomes TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:216173749T>C uc001hku.1 - 33 6868 c.6481A>G c.(6481-6483)ATA>GTA p.I2161V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2161 Extracellular (Potential).|Fibronectin type-III 8. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACTTACTGTATGTGTATAGTT 0.433 NA HNSCC(13;0.011) 8 85 0 0 0.008291 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717462 222717462 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:222717462C>A uc001hnh.1 - 2 449 c.391G>T c.(391-393)GGC>TGC p.G131C NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 131 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) GAGCAGAGGCCCGGGAGATTC 0.582 NA 77 179 4.21773e-46 6.75507e-46 0.00361 1 0 TLR5 7100 broad.mit.edu 37 1 223283956 223283956 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:223283956G>A uc001hnv.1 - 4 2864 c.2418C>T c.(2416-2418)ATC>ATT p.I806I TLR5_uc001hnw.1_Silent_p.I806I NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 806 Cytoplasmic (Potential).|TIR. Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) CAAAGCCTCTGATGGATTGAT 0.458 NA 24 29 0 0 0.004656 0 0 GJC2 57165 broad.mit.edu 37 1 228346354 228346354 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:228346354C>A uc001hsk.2 + 2 1070 c.895C>A c.(895-897)CGC>AGC p.R299S NM_020435 NP_065168 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 299 Cytoplasmic (Potential). cell death connexon complex|integral to membrane 0 Prostate(94;0.0405) GGACGCGGTGCGCGGCCGCCG 0.572 NA 9 4 0.000274275 0.000295982 0.004482 1 0 RYR2 6262 broad.mit.edu 37 1 237777705 237777705 + Silent SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:237777705A>T uc001hyl.1 + 37 5397 c.5277A>T c.(5275-5277)CCA>CCT p.P1759P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1759 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) CCCTCAGGCCACGGATGCAGT 0.512 NA 13 29 0 0 0.004007 0 0 RYR2 6262 broad.mit.edu 37 1 237817625 237817625 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:237817625G>C uc001hyl.1 + 52 7996 c.7876G>C c.(7876-7878)GGG>CGG p.G2626R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2626 Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCTGCCTGGAGGGTGGGGAAA 0.383 NA 24 44 0 0 0.008361 0 0 ZP4 57829 broad.mit.edu 37 1 238046086 238046086 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:238046086G>T uc001hym.2 - 11 1451 c.1451C>A c.(1450-1452)CCC>CAC p.P484H LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 484 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TAGAATCATGGGGCCTTTGCT 0.398 NSCLC(166;160 2029 11600 18754 19936) NA 23 53 2.41591e-17 3.35303e-17 0.004656 1 0 ZP4 57829 broad.mit.edu 37 1 238048129 238048129 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:238048129C>A uc001hym.2 - 10 1330 c.1330G>T c.(1330-1332)GTG>TTG p.V444L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 444 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CAGACTGACACGCTGCAGTGC 0.507 NSCLC(166;160 2029 11600 18754 19936) NA 14 29 1.33834e-09 1.63683e-09 0.007413 1 0 FMN2 56776 broad.mit.edu 37 1 240255781 240255781 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:240255781G>C uc010pyd.1 + 1 597 c.372G>C c.(370-372)TCG>TCC p.S124S FMN2_uc010pye.1_Silent_p.S124S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 124 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.E124E(1) ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCAGCCTCTCGGCGGACGAGG 0.692 NA 4 1 0 0 0.000602 0 0 OR2T12 127064 broad.mit.edu 37 1 248458101 248458102 + Missense_Mutation DNP GG GG TT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:248458101_248458102GG>TT uc010pzj.1 - 1 779_780 c.779_780CC>AA c.(778-780)CCC>CAA p.P260Q NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(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) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TGTGGGATTTGGGTCTCATATA 0.485 NA 37 64 0 0 0.004672 0 0 OR2T10 127069 broad.mit.edu 37 1 248756939 248756939 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:248756939G>T uc010pzn.1 - 1 131 c.131C>A c.(130-132)ACA>AAA p.T44K NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(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) AAGTATCAATGTAATATTCCA 0.413 NA 19 63 5.26018e-13 6.83959e-13 0.001882 1 0 LARP4B 23185 broad.mit.edu 37 10 860887 860887 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:860887C>A uc001ifs.1 - 15 1860 c.1819G>T c.(1819-1821)GAT>TAT p.D607Y NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 607 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 AATACTCACTCGGGTAAATGA 0.517 NA 17 42 7.87624e-14 1.04293e-13 0.00278 1 0 AKR1E2 83592 broad.mit.edu 37 10 4877928 4877928 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:4877928G>T uc001ihi.2 + 4 501 c.386G>T c.(385-387)CGA>CTA p.R129L AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Missense_Mutation_p.R90L|AKR1E2_uc001ihh.1_Missense_Mutation_p.R129L|AKR1E2_uc009xhw.2_Missense_Mutation_p.R129L|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.R129L NM_001040177 NP_001035267 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 129 cytoplasm 1,5-anhydro-D-fructose reductase activity 0 TCACATCCTCGAGTGCAGGAC 0.522 NSCLC(43;343 1097 20371 28813 45509) NA 33 37 1.30998e-17 1.82565e-17 0.005524 1 0 FBXO18 84893 broad.mit.edu 37 10 5969492 5969492 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:5969492G>A uc001iis.2 + 19 2912 c.2817G>A c.(2815-2817)TTG>TTA p.L939L FBXO18_uc001iir.2_Silent_p.L882L|FBXO18_uc009xig.2_Silent_p.L865L|FBXO18_uc001iit.2_Silent_p.L990L NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 939 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 AAAACATTTTGACTTTGGCTG 0.448 NA 15 59 0 0 0.002299 0 0 C1QL3 389941 broad.mit.edu 37 10 16563060 16563060 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:16563060A>G uc001ioj.1 - 1 945 c.5T>C c.(4-6)GTG>GCG p.V2A NM_001010908 NP_001010908 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 2 collagen ovary(1) 1 CAGCAGCAGCACCATCACCAC 0.682 NA 6 6 0 0 0.008291 0 0 TRDMT1 1787 broad.mit.edu 37 10 17199678 17199678 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:17199678C>G uc001iop.2 - 8 697 c.649G>C c.(649-651)GAT>CAT p.D217H TRDMT1_uc001ioq.2_Missense_Mutation_p.D193H|TRDMT1_uc001ior.2_Missense_Mutation_p.D171H|TRDMT1_uc001ios.2_Missense_Mutation_p.D146H|TRDMT1_uc009xjt.2_Missense_Mutation_p.D136H|TRDMT1_uc010qcc.1_Missense_Mutation_p.D146H|TRDMT1_uc010qcd.1_Missense_Mutation_p.D94H NM_004412 NP_004403 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 isoform 217 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding ovary(1) 1 ATGCTGCCATCAAAGCTAATA 0.343 NA 5 2 0 0 0.000602 0 0 CACNB2 783 broad.mit.edu 37 10 18803262 18803263 + Missense_Mutation DNP CC CC AT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:18803262_18803263CC>AT uc001ipr.2 + 7 828_829 c.768_769CC>AT c.(766-771)CCCCAC>CCATAC p.H257Y CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc001ipt.2_Intron|CACNB2_uc010qcl.1_Intron|CACNB2_uc001ipu.2_Missense_Mutation_p.H229Y|CACNB2_uc001ipv.2_Intron|CACNB2_uc009xka.1_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Missense_Mutation_p.H202Y|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.1_Missense_Mutation_p.H203Y|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Missense_Mutation_p.H203Y|CACNB2_uc010qcn.1_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Missense_Mutation_p.H209Y|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 257 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TAACGTCACCCCACTCCAAAGA 0.45 NA 15 41 0 0 0.004672 0 0 MYO3A 53904 broad.mit.edu 37 10 26465695 26465695 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:26465695G>T uc001isn.2 + 31 4719 c.4359G>T c.(4357-4359)CAG>CAT p.Q1453H MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1453 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 TTTTGTCACAGCAACTGAAGT 0.358 NA 24 27 6.38683e-12 8.1677e-12 0.008361 1 0 ASAH2 56624 broad.mit.edu 37 10 52005175 52005175 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:52005175G>T uc001jjd.2 - 2 167 c.167C>A c.(166-168)CCA>CAA p.P56Q ASAH2_uc009xos.2_Missense_Mutation_p.P56Q NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 56 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 CTGGGTGGCTGGAGGGCTTTG 0.488 NA 5 13 0.000602214 0.00064368 0.000602 1 0 IPMK 253430 broad.mit.edu 37 10 59956230 59956230 + Silent SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:59956230T>A uc001jkb.2 - 6 1181 c.858A>T c.(856-858)ACA>ACT p.T286T NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 286 nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 CTAGTACTTCTGTGTCTGACA 0.378 NA 12 19 0 0 0.001368 0 0 TET1 80312 broad.mit.edu 37 10 70405772 70405772 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:70405772G>C uc001jok.3 + 4 3791 c.3286G>C c.(3286-3288)GAG>CAG p.E1096Q NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1096 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TATAAAACCAGAGGACAAAAA 0.378 NA 6 49 0 0 0.001984 0 0 MYST4 23522 broad.mit.edu 37 10 76780503 76780503 + Silent SNP G G C rs140113295 byFrequency TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:76780503G>C uc001jwn.1 + 14 3286 c.2793G>C c.(2791-2793)ACG>ACC p.T931T MYST4_uc001jwm.1_Silent_p.T639T|MYST4_uc001jwo.1_Silent_p.T639T|MYST4_uc001jwp.1_Silent_p.T748T NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 931 Catalytic.|Interaction with BRPF1. TGM -> RHV (in Ref. 2; AAL56647). histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) GCAGAGCGACGGGCATGTGCC 0.567 NA T CREBBP AML 10 51 0 0 0.00245 0 0 KCNMA1 3778 broad.mit.edu 37 10 78651358 78651358 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:78651358C>T uc001jxn.2 - 26 3444 c.3267G>A c.(3265-3267)CCG>CCA p.P1089P KCNMA1_uc001jxj.2_Silent_p.P1035P|KCNMA1_uc001jxk.1_Silent_p.P707P|KCNMA1_uc009xrt.1_Silent_p.P880P|KCNMA1_uc001jxl.1_Silent_p.P714P|KCNMA1_uc001jxo.2_Silent_p.P1072P|KCNMA1_uc001jxm.2_Silent_p.P1031P|KCNMA1_uc001jxq.2_Silent_p.P1061P|uc001jxp.2_Intron NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 1089 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CCAGTGTCTGCGGGGTGCTGT 0.632 NA 7 33 0 0 0.00308 0 0 KCNMA1 3778 broad.mit.edu 37 10 78674762 78674762 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:78674762G>T uc001jxn.2 - 24 3125 c.2948C>A c.(2947-2949)CCA>CAA p.P983Q KCNMA1_uc001jxj.2_Missense_Mutation_p.P929Q|KCNMA1_uc001jxk.1_Missense_Mutation_p.P601Q|KCNMA1_uc009xrt.1_Missense_Mutation_p.P774Q|KCNMA1_uc001jxl.1_Missense_Mutation_p.P608Q|KCNMA1_uc001jxo.2_Missense_Mutation_p.P966Q|KCNMA1_uc001jxm.2_Missense_Mutation_p.P925Q|KCNMA1_uc001jxq.2_Missense_Mutation_p.P928Q NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 983 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CCCGTGCACTGGGCTGTTATC 0.478 NA 127 70 3.69866e-55 6.029e-55 0.00361 1 0 FAM190B 54462 broad.mit.edu 37 10 86259650 86259650 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:86259650C>G uc001kdh.1 + 10 2539 c.2345C>G c.(2344-2346)TCC>TGC p.S782C FAM190B_uc010qmd.1_Intron|FAM190B_uc001kdi.1_Intron|FAM190B_uc010qme.1_Missense_Mutation_p.S209C NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 782 ovary(3)|skin(1) 4 TCTGCTCCCTCCTTCTCTCCT 0.507 NA 11 87 0 0 0.001368 0 0 OPN4 94233 broad.mit.edu 37 10 88418396 88418396 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:88418396G>A uc001kdq.2 + 4 807 c.580G>A c.(580-582)GTT>ATT p.V194I OPN4_uc001kdp.2_Missense_Mutation_p.V205I|OPN4_uc010qmk.1_Missense_Mutation_p.V205I|OPN4_uc009xsx.1_5'Flank NM_033282 NP_150598 Q9UHM6 OPN4_HUMAN opsin 4 isoform 1 194 Helical; Name=4; (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity ovary(1) 1 CCTGCTGGGCGTTTGGCTCTA 0.647 NA 4 91 0 0 0.001168 0 0 LIPF 8513 broad.mit.edu 37 10 90427398 90427398 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:90427398G>C uc001kfg.1 + 3 344 c.178G>C c.(178-180)GAA>CAA p.E60Q LIPF_uc009xtk.2_Missense_Mutation_p.E60Q|LIPF_uc001kfh.1_Missense_Mutation_p.E70Q|LIPF_uc010qmt.1_Missense_Mutation_p.E70Q|LIPF_uc010qmu.1_Missense_Mutation_p.E60Q NM_004190 NP_004181 P07098 LIPG_HUMAN lipase, gastric precursor 60 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity 0 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TTATATTCTTGAAGTCAATAG 0.259 NA 3 80 0 0 0.001168 0 0 TNKS2 80351 broad.mit.edu 37 10 93619378 93619378 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:93619378A>G uc001khp.2 + 25 3551 c.3254A>G c.(3253-3255)AAA>AGA p.K1085R NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 1085 PARP catalytic. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) CCAGTTCACAAAGACAGATCT 0.388 NA 32 23 0 0 0.006999 0 0 DNTT 1791 broad.mit.edu 37 10 98064330 98064330 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:98064330T>A uc001kmf.2 + 1 246 c.76T>A c.(76-78)TCT>ACT p.S26T DNTT_uc001kmg.2_Missense_Mutation_p.S26T NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 26 DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) GATGGCCTCCTCTCCTCAAGA 0.567 NA 12 27 0 0 0.001855 0 0 ANKRD2 26287 broad.mit.edu 37 10 99338071 99338071 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:99338071C>A uc001knw.2 + 3 554 c.345C>A c.(343-345)CTC>CTA p.L115L ANKRD2_uc009xvu.2_Silent_p.L115L NM_020349 NP_065082 Q9GZV1 ANKR2_HUMAN ankyrin repeat domain 2 isoform a 115 muscle contraction|muscle organ development structural constituent of muscle 0 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) TCCAGAACCTCATCGAGCTGC 0.667 NA 13 19 1.5739e-10 1.96786e-10 0.004007 1 0 PAX2 5076 broad.mit.edu 37 10 102587431 102587431 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:102587431C>G uc001krk.3 + 12 1837 c.1287C>G c.(1285-1287)GTC>GTG p.V429V PAX2_uc001krl.3_3'UTR|PAX2_uc001krm.3_3'UTR|PAX2_uc001kro.3_3'UTR|PAX2_uc001krn.3_Silent_p.V406V|PAX2_uc010qps.1_3'UTR NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e Error:Variant_position_missing_in_Q02962_after_alignment anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) TCCACATCGTCCCCGTCTGAC 0.711 NA 7 21 0 0 0.001984 0 0 PDCD11 22984 broad.mit.edu 37 10 105182844 105182844 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:105182844G>T uc001kwy.1 + 18 2684 c.2597G>T c.(2596-2598)GGG>GTG p.G866V NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 866 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GTATTCAGTGGGGGTCCAGTG 0.567 NA 24 38 3.7963e-18 5.33492e-18 0.00333 1 0 SLK 9748 broad.mit.edu 37 10 105779539 105779539 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:105779539G>C uc001kxo.1 + 16 3214 c.3180G>C c.(3178-3180)TTG>TTC p.L1060F SLK_uc001kxp.1_Missense_Mutation_p.L1029F NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 1060 Potential. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGAGGAATTGAAAAACAGAC 0.393 NSCLC(111;540 1651 1927 4474 17706) NA 15 93 0 0 0.00499 0 0 ATRNL1 26033 broad.mit.edu 37 10 117607386 117607386 + Splice_Site SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:117607386A>T uc001lcg.2 + 28 4290 c.3904_splice c.e28-2 p.G1302_splice ATRNL1_uc010qsm.1_Splice_Site_p.G431_splice|ATRNL1_uc010qsn.1_Splice_Site NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTTCTTTTTCAGGGGGCACCC 0.433 NA 5 21 0 0 0.00308 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118236601 118236601 + Splice_Site SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:118236601G>A uc001lcl.3 + 12 1442 c.1341_splice c.e12-1 p.K447_splice NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AAAACTTTCAGATCTACCTTC 0.358 NA 9 30 0 0 0.004482 0 0 ADAM12 8038 broad.mit.edu 37 10 127724787 127724787 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:127724787G>T uc001ljk.2 - 21 2879 c.2466C>A c.(2464-2466)CTC>CTA p.L822L ADAM12_uc010qul.1_Silent_p.L773L NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 822 Cytoplasmic (Potential). cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GAGCCCGGTGGAGGGGAGGAA 0.582 NA 48 64 9.90819e-18 1.38468e-17 0.00361 1 0 ADAM12 8038 broad.mit.edu 37 10 127731628 127731628 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:127731628G>A uc001ljk.2 - 18 2507 c.2094C>T c.(2092-2094)AGC>AGT p.S698S ADAM12_uc010qul.1_Silent_p.S649S|ADAM12_uc001ljm.2_Silent_p.S698S|ADAM12_uc001ljn.2_Silent_p.S695S|ADAM12_uc001ljl.3_Silent_p.S695S NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 698 Extracellular (Potential). cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GGATGGGGCCGCTGTCTGTGC 0.637 NA 3 38 0 0 0.009096 0 0 EBF3 253738 broad.mit.edu 37 10 131639150 131639150 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:131639150G>A uc001lki.1 - 14 1551 c.1492C>T c.(1492-1494)CCT>TCT p.P498S NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 507 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) AGAAATCCAGGCGAGCCAGGG 0.522 NA 10 91 0 0 0.00245 0 0 GLRX3 10539 broad.mit.edu 37 10 131973129 131973129 + Splice_Site SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:131973129A>T uc001lkm.1 + 9 847 c.825_splice c.e9-2 p.G275_splice GLRX3_uc001lkn.1_Splice_Site_p.G275_splice|GLRX3_uc001lko.2_Splice_Site NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) TCTTTTTTGCAGTGTTGAATA 0.318 NA 38 26 0 0 0.002852 0 0 EPS8L2 64787 broad.mit.edu 37 11 724778 724778 + Silent SNP C C T rs149900433 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:724778C>T uc001lqt.2 + 16 1756 c.1509C>T c.(1507-1509)TTC>TTT p.F503F EPS8L2_uc001lqu.2_Silent_p.F503F|EPS8L2_uc010qwk.1_Silent_p.F519F|EPS8L2_uc001lqv.2_Silent_p.F458F|EPS8L2_uc001lqw.2_Silent_p.F115F|EPS8L2_uc001lqx.2_Silent_p.F115F|EPS8L2_uc001lqy.2_Silent_p.F11F NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 503 SH3. cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTATGACTTCACAGCCCGAA 0.607 NA 12 77 0 0 0.007413 0 0 NUP98 4928 broad.mit.edu 37 11 3794932 3794932 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:3794932A>C uc001lyh.2 - 6 824 c.533T>G c.(532-534)GTT>GGT p.V178G NUP98_uc001lyi.2_Missense_Mutation_p.V178G|NUP98_uc001lyj.1_Missense_Mutation_p.V178G|NUP98_uc001lyk.1_Missense_Mutation_p.V178G|NUP98_uc010qxv.1_Missense_Mutation_p.V141G NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 178 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GTTAGTGCTAACTCCAGCTTT 0.378 NA T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 42 21 0 0 0.00361 0 0 OR51T1 401665 broad.mit.edu 37 11 4904000 4904000 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:4904000C>A uc010qyp.1 + 1 952 c.952C>A c.(952-954)CCT>ACT p.P318T NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 291 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTGCTGAACCCTATCATTTA 0.512 NA 44 72 2.55665e-31 3.9324e-31 0.00361 1 0 OR51B6 390058 broad.mit.edu 37 11 5372961 5372961 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:5372961C>T uc010qzb.1 + 1 224 c.224C>T c.(223-225)ACA>ATA p.T75I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 75 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATTGACCACAATGCCCACA 0.463 NA 28 59 0 0 0.00632 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537381 5537381 + Nonsense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:5537381G>C uc001maz.3 - 1 576 c.291C>G c.(289-291)TAC>TAG p.Y97* HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 97 Ubiquitin-like. large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TGATGACCAAGTAGATGGTGT 0.537 NA 60 24 0 0 0.00361 0 0 OR52E4 390081 broad.mit.edu 37 11 5906244 5906244 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:5906244C>A uc010qzs.1 + 1 722 c.722C>A c.(721-723)ACC>AAC p.T241N TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTTCAATACCTGTGGTTCT 0.403 NA 50 76 9.52127e-25 1.41905e-24 0.00361 1 0 CNGA4 1262 broad.mit.edu 37 11 6260485 6260485 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:6260485C>A uc001mco.2 + 1 156 c.49C>A c.(49-51)CCA>ACA p.P17T CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Intron NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 17 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCCCCAGCCCCATCCAAGGC 0.557 NA 15 39 9.16793e-09 1.09863e-08 0.00499 1 0 SYT9 143425 broad.mit.edu 37 11 7334683 7334683 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:7334683G>A uc001mfe.2 + 3 792 c.555G>A c.(553-555)CAG>CAA p.Q185Q SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 185 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) ATATCCAGCAGCTTCAAAAAC 0.393 NA 8 57 0 0 0.008291 0 0 LDHA 3939 broad.mit.edu 37 11 18427047 18427047 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:18427047C>G uc001mok.3 + 7 1034 c.762C>G c.(760-762)CTC>CTG p.L254L LDHA_uc010rdc.1_Silent_p.L196L|LDHA_uc009yhn.2_Silent_p.L253L|LDHA_uc009yho.2_Silent_p.L81L|LDHA_uc001mol.3_Intron|LDHA_uc010rdd.1_Silent_p.L283L NM_005566 NP_005557 P00338 LDHA_HUMAN lactate dehydrogenase A isoform 1 254 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3) 3 NADH(DB00157) CTATTGGACTCTCTGTAGCAG 0.448 NA 4 91 0 0 0.009096 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637123 18637123 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:18637123G>C uc001moy.2 - 3 914 c.698C>G c.(697-699)TCT>TGT p.S233C SPTY2D1_uc010rdi.1_Missense_Mutation_p.S233C NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 233 breast(1) 1 TTCTTTCTGAGAGGGTGCCTT 0.443 NA 24 113 0 0 0.007291 0 0 KCNA4 3739 broad.mit.edu 37 11 30032313 30032313 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:30032313G>C uc001msk.2 - 2 3065 c.1913C>G c.(1912-1914)ACA>AGA p.T638R NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 638 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTTTTTATCTGTCTCACTGTC 0.458 NA 32 71 0 0 0.004878 0 0 PAX6 5080 broad.mit.edu 37 11 31824340 31824340 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:31824340C>A uc001mtd.3 - 4 943 c.53G>T c.(52-54)GGG>GTG p.G18V PAX6_uc001mte.3_Missense_Mutation_p.G18V|PAX6_uc001mtg.3_Missense_Mutation_p.G18V|PAX6_uc001mtf.3_Missense_Mutation_p.G18V|PAX6_uc001mth.3_Missense_Mutation_p.G18V|PAX6_uc009yjr.2_Missense_Mutation_p.G18V NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 18 Paired. G -> W (in AN). blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) CAGTGGCCGCCCGTTGACAAA 0.483 NA Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 16 21 2.89027e-11 3.64535e-11 0.002299 1 0 TRAF6 7189 broad.mit.edu 37 11 36511633 36511633 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:36511633C>A uc001mwr.1 - 8 1664 c.1324G>T c.(1324-1326)GTA>TTA p.V442L uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Missense_Mutation_p.V442L NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 442 MATH. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) TTTTGCCTTACAGGTGCTTCA 0.483 NA 21 24 3.8784e-16 5.30259e-16 0.001882 1 0 RAG1 5896 broad.mit.edu 37 11 36597395 36597395 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:36597395A>G uc001mwu.3 + 2 2665 c.2541A>G c.(2539-2541)AAA>AAG p.K847K RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 847 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) TGAACCTCAAACCAATCATGA 0.478 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 8 44 0 0 0.006214 0 0 EXT2 2132 broad.mit.edu 37 11 44265763 44265763 + Nonsense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:44265763C>T uc001mxz.2 + 14 2417 c.2083C>T c.(2083-2085)CGA>TGA p.R695* EXT2_uc010rfo.1_Nonsense_Mutation_p.R723*|EXT2_uc001mxy.2_Nonsense_Mutation_p.R708*|EXT2_uc009ykt.2_Nonsense_Mutation_p.R705*|EXT2_uc001mya.2_Nonsense_Mutation_p.R728* NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 695 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 GGTGGAACACCGAGCTGACCC 0.517 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 5 99 0 0 0.001168 0 0 SYT13 57586 broad.mit.edu 37 11 45274040 45274040 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:45274040G>C uc001myq.2 - 4 904 c.778C>G c.(778-780)CTG>GTG p.L260V SYT13_uc009yku.1_Missense_Mutation_p.L116V NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 260 Cytoplasmic (Potential). transport vesicle ovary(1) 1 TCCAGGCCCAGGCGGAGCTCC 0.657 NA OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 60 0 0 0.008871 0 0 OR5L2 26338 broad.mit.edu 37 11 55595525 55595525 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:55595525C>G uc001nhy.1 + 1 831 c.831C>G c.(829-831)TTC>TTG p.F277L NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CCACCGTGTTCTACACAGTTG 0.468 NA HNSCC(27;0.073) 7 49 0 0 0.001984 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735431 55735431 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:55735431C>A uc010rit.1 - 1 509 c.509G>T c.(508-510)TGT>TTT p.C170F NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) CGGGATGTCACAAAAGAAATG 0.408 NA 10 39 6.42651e-13 8.33464e-13 0.000978 1 0 OR5F1 338674 broad.mit.edu 37 11 55761839 55761839 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:55761839T>C uc010riv.1 - 1 263 c.263A>G c.(262-264)GAG>GGG p.E88G NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GGTTTTCTTCTCTGATAATAA 0.448 NA 16 57 0 0 0.006122 0 0 OR8I2 120586 broad.mit.edu 37 11 55860955 55860955 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:55860955C>A uc010rix.1 + 1 172 c.172C>A c.(172-174)CCT>ACT p.P58T NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) GCTTCACACCCCTATGTACTT 0.378 NA 68 112 3.27973e-32 5.06775e-32 0.00361 1 0 OR8I2 120586 broad.mit.edu 37 11 55861147 55861147 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:55861147C>A uc010rix.1 + 1 364 c.364C>A c.(364-366)CGC>AGC p.R122S NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) GGCCTACAATCGCTACATAGC 0.433 NA 63 34 3.94896e-32 6.09251e-32 0.00361 1 0 OR5T2 219464 broad.mit.edu 37 11 56000397 56000397 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:56000397T>A uc010rjc.1 - 1 265 c.265A>T c.(265-267)ATT>TTT p.I89F NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 89 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I89I(1) ovary(2) 2 Esophageal squamous(21;0.00448) GAATCCCTAATGACCACTAAA 0.403 NA 6 33 0 0 0.000978 0 0 CD6 923 broad.mit.edu 37 11 60777208 60777209 + Missense_Mutation DNP AA AA TG TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 AA AA - - AA AA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:60777208_60777209AA>TG uc001nqq.2 + 5 1169_1170 c.946_947AA>TG c.(946-948)AAG>TGG p.K316W CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Missense_Mutation_p.K316W|CD6_uc001nqr.2_Missense_Mutation_p.K316W|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.K316W NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 316 SRCR 3.|Extracellular (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 TGAGAGGCCCAAGGGGCTGCCC 0.604 Pancreas(169;904 2017 4767 38890 42505) NA 14 56 0 0 0.004672 0 0 INCENP 3619 broad.mit.edu 37 11 61917542 61917542 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:61917542C>G uc001nsw.1 + 18 2607 c.2405C>G c.(2404-2406)ACC>AGC p.T802S INCENP_uc001nsx.1_Missense_Mutation_p.T798S|INCENP_uc001nsy.1_Missense_Mutation_p.T216S NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 802 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 CCAGCTTGTACCTCATATCAG 0.557 NA 12 75 0 0 0.004007 0 0 BSCL2 26580 broad.mit.edu 37 11 62472928 62472928 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:62472928G>A uc001nuo.1 - 2 481 c.57C>T c.(55-57)GTC>GTT p.V19V BSCL2_uc009yoc.1_Silent_p.V19V|BSCL2_uc001nup.2_Silent_p.V19V|BSCL2_uc001nuq.1_Silent_p.V19V|BSCL2_uc001nur.3_Silent_p.V83V|BSCL2_uc009yod.2_Silent_p.V83V|BSCL2_uc001nut.3_Silent_p.V83V|HNRNPUL2_uc001nuu.1_RNA|GNG3_uc001nuv.2_5'Flank NM_032667 NP_116056 Q96G97 BSCL2_HUMAN seipin isoform 2 19 Cytoplasmic (Potential). cell death integral to endoplasmic reticulum membrane 0 GGCCTGCCAAGACTTGGCCCA 0.622 NA 11 38 0 0 0.001368 0 0 STX5 6811 broad.mit.edu 37 11 62598658 62598658 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:62598658G>C uc001nvh.2 - 2 212 c.58C>G c.(58-60)CTC>GTC p.L20V STX5_uc010rmi.1_Intron|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Intron|STX5_uc010rmj.1_Missense_Mutation_p.L20V|STX5_uc001nvj.2_5'UTR NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 20 Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 GTCTTTGAGAGACCCAGGTAG 0.607 NA 2 8 0 0 0.004672 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74915622 74915622 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:74915622G>A uc001owb.2 + 14 2514 c.2127G>A c.(2125-2127)GTG>GTA p.V709V SLCO2B1_uc010rrr.1_Silent_p.V565V|SLCO2B1_uc010rrs.1_Silent_p.V593V|SLCO2B1_uc001owc.2_Silent_p.V482V|SLCO2B1_uc001owd.2_Silent_p.V687V NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 709 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) ATTCCCGAGTGTGAGCTGTCT 0.502 NA 9 33 0 0 0.008291 0 0 FAT3 120114 broad.mit.edu 37 11 92543184 92543184 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:92543184T>C uc001pdj.3 + 12 9440 c.9423T>C c.(9421-9423)TAT>TAC p.Y3141Y NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3141 Cadherin 29.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCTGTGTCTATGAGAACACAG 0.527 NA TCGA Ovarian(4;0.039) 25 40 0 0 0.00632 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714731 92714732 + Missense_Mutation DNP GG GG TT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:92714731_92714732GG>TT uc001pdk.1 + 2 445_446 c.342_343GG>TT c.(340-345)AAGGCC>AATTCC p.114_115KA>NS NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 114_115 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AGCACTGCAAGGCCAGCGCCTT 0.589 NA 14 84 0 0 0.004672 0 0 MMP20 9313 broad.mit.edu 37 11 102487653 102487653 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:102487653G>T uc001phc.2 - 2 277 c.264C>A c.(262-264)GAC>GAA p.D88E NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 88 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) TTGTGGTCTGGTCTAACTTCC 0.463 NA 18 22 2.89027e-11 3.64535e-11 0.002299 1 0 GRIA4 2893 broad.mit.edu 37 11 105781191 105781191 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:105781191G>T uc001pix.2 + 10 1635 c.1189G>T c.(1189-1191)GTC>TTC p.V397F GRIA4_uc001piu.1_Missense_Mutation_p.V397F|GRIA4_uc001piw.2_Missense_Mutation_p.V397F|GRIA4_uc009yxk.1_Missense_Mutation_p.V397F NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 397 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GGATAAGTTAGTCTTGATTCA 0.358 NA 10 63 1.08611e-07 1.26254e-07 0.000978 1 0 DDX10 1662 broad.mit.edu 37 11 108562632 108562632 + Silent SNP G G A rs144415130 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:108562632G>A uc001pkm.2 + 8 1070 c.1005G>A c.(1003-1005)CGG>CGA p.R335R DDX10_uc001pkl.1_Silent_p.R335R NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 335 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGTTTTGCCGGCTACGTCCTG 0.418 NA T NUP98 AML* 48 32 0 0 0.00361 0 0 PIH1D2 120379 broad.mit.edu 37 11 111943723 111943723 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:111943723A>T uc001pmq.3 - 2 258 c.176T>A c.(175-177)CTG>CAG p.L59Q PIH1D2_uc009yyl.2_Missense_Mutation_p.L59Q|PIH1D2_uc001pmp.3_Missense_Mutation_p.L59Q|PIH1D2_uc010rws.1_Missense_Mutation_p.L59Q|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank NM_138789 NP_620144 Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 isoform 1 59 ovary(1) 1 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) TCGACATACCAGAATCCTGGT 0.448 NA 29 25 0 0 0.004878 0 0 DRD2 1813 broad.mit.edu 37 11 113281511 113281511 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:113281511T>C uc001pnz.2 - 7 1591 c.1270A>G c.(1270-1272)ATC>GTC p.I424V DRD2_uc010rwv.1_Missense_Mutation_p.I423V|DRD2_uc001poa.3_Missense_Mutation_p.I424V|DRD2_uc001pob.3_Missense_Mutation_p.I395V NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 424 Helical; Name=7; (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GTGTAGATGATGGGGTTCACG 0.567 NA 30 100 0 0 0.002445 0 0 DRD2 1813 broad.mit.edu 37 11 113283453 113283453 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:113283453G>T uc001pnz.2 - 6 1284 c.963C>A c.(961-963)AGC>AGA p.S321R DRD2_uc010rwv.1_Missense_Mutation_p.S320R|DRD2_uc001poa.3_Missense_Mutation_p.S321R|DRD2_uc001pob.3_Missense_Mutation_p.S292R NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 321 Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GTTTGGCGGGGCTGTCGGGAG 0.622 NA 17 46 1.56442e-22 2.30102e-22 0.002445 1 0 DRD2 1813 broad.mit.edu 37 11 113283469 113283469 + Missense_Mutation SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:113283469T>G uc001pnz.2 - 6 1268 c.947A>C c.(946-948)CAC>CCC p.H316P DRD2_uc010rwv.1_Missense_Mutation_p.H315P|DRD2_uc001poa.3_Missense_Mutation_p.H316P|DRD2_uc001pob.3_Missense_Mutation_p.H287P NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 316 Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GGGAGTGCTGTGGAGACCATG 0.617 NA 20 55 0 0 0.003271 0 0 UBE4A 9354 broad.mit.edu 37 11 118239392 118239392 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:118239392G>C uc001psw.2 + 3 297 c.168G>C c.(166-168)GAG>GAC p.E56D UBE4A_uc001psv.2_Missense_Mutation_p.E56D NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 56 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GCGTGTCAGAGAGCCTGGATG 0.443 NA 6 295 0 0 0.001984 0 0 DPAGT1 1798 broad.mit.edu 37 11 118971834 118971834 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:118971834C>T uc001pvi.2 - 2 596 c.176G>A c.(175-177)GGA>GAA p.G59E DPAGT1_uc001pvj.2_Intron|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_5'UTR|DPAGT1_uc010ryz.1_Missense_Mutation_p.G59E|DPAGT1_uc001pvm.1_5'Flank|DPAGT1_uc010rza.1_Intron NM_001382 NP_001373 Q9H3H5 GPT_HUMAN UDP-N-acetylglucosamine-dolichyl-phosphate 59 Helical; (Potential). dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|ovary(1) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) GCTGATCACTCCCTGGGATTC 0.557 NA OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 36 0 0 0.00308 0 0 CBL 867 broad.mit.edu 37 11 119103165 119103165 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:119103165G>T uc001pwe.2 + 2 341 c.203G>T c.(202-204)CGG>CTG p.R68L NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 68 Cbl-PTB.|4H. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CAGGTGGTGCGGTTGTGTCAG 0.408 NA CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 5 41 2.0095e-06 2.27053e-06 0.001984 1 0 CRTAM 56253 broad.mit.edu 37 11 122738263 122738263 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:122738263G>C uc001pyj.2 + 8 964 c.964G>C c.(964-966)GAA>CAA p.E322Q CRTAM_uc001pyk.2_Missense_Mutation_p.E123Q NM_019604 NP_062550 O95727 CRTAM_HUMAN class-I MHC-restricted T cell associated 322 Cytoplasmic (Potential). cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding ovary(1) 1 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) ATGGAAGAAAGGTCAGTGGGC 0.458 NA 6 38 0 0 0.001168 0 0 ASAM 79827 broad.mit.edu 37 11 123065631 123065631 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:123065631G>T uc001pyt.2 - 1 377 c.18C>A c.(16-18)CTC>CTA p.L6L NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN adipocyte-specific adhesion molecule precursor 6 integral to membrane|tight junction 0 Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) CTAGCAAGAGGAGAAGGAGGA 0.711 NA 4 28 0.00116845 0.00123451 0.001168 1 0 OR6T1 219874 broad.mit.edu 37 11 123813849 123813849 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:123813849C>A uc010sab.1 - 1 697 c.697G>T c.(697-699)GAG>TAG p.E233* NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TTCCTTCGCTCAGCAGCTGTA 0.507 NA 30 15 7.11191e-15 9.52977e-15 0.002836 1 0 OR10G7 390265 broad.mit.edu 37 11 123909520 123909520 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:123909520G>T uc001pzq.1 - 1 189 c.189C>A c.(187-189)AAC>AAA p.N63K NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGAAGGACAGGTTGGTGAGGA 0.552 NA 4 74 2.32078e-09 2.82811e-09 0.003163 1 0 OR8G2 26492 broad.mit.edu 37 11 124096007 124096007 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:124096007A>T uc010saf.1 + 1 610 c.610A>T c.(610-612)AGC>TGC p.S204C NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 204 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CTCCTGCTCCAGCACCTACAT 0.423 NA 24 66 0 0 0.004656 0 0 ROBO3 64221 broad.mit.edu 37 11 124743218 124743218 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:124743218G>T uc001qbc.2 + 10 1741 c.1549G>T c.(1549-1551)GGC>TGC p.G517C NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 517 Ig-like C2-type 5.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GATGGACATGGGCTTCTACAG 0.542 NA 4 11 0.00116845 0.00123451 0.001168 1 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:124857495A>C uc001qbm.3 + 8 1632 c.1373A>C c.(1372-1374)CAC>CCC p.H458P NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418 NA 3 62 0 0 0.004672 0 0 ETS1 2113 broad.mit.edu 37 11 128426243 128426243 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:128426243A>G uc001qej.2 - 3 242 c.157T>C c.(157-159)TTT>CTT p.F53L NM_001143820 NP_001137292 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) TCATCCCAAAAGGGGTAGCAA 0.448 NA 3 64 0 0 0.009096 0 0 NFRKB 4798 broad.mit.edu 37 11 129762741 129762741 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:129762741C>T uc001qfi.2 - 3 205 c.4G>A c.(4-6)GAT>AAT p.D2N NFRKB_uc001qfg.2_Missense_Mutation_p.D15N|NFRKB_uc001qfh.2_Missense_Mutation_p.D25N|NFRKB_uc010sbw.1_Missense_Mutation_p.D2N NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 2 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TCTAAGGAATCCATTGTTTCT 0.507 NA 12 96 0 0 0.00245 0 0 HSN2 378465 broad.mit.edu 37 12 977998 977998 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:977998G>T uc001qiq.2 + 1 1129 c.1003G>T c.(1003-1005)GAG>TAG p.E335* WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_213655 NP_998820 hereditary sensory neuropathy, type II 0 all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178) TTCTGTGGTAGAGCCTATCGG 0.473 NA 58 17 3.86002e-21 5.57988e-21 0.00361 1 0 ERC1 23085 broad.mit.edu 37 12 1481101 1481101 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:1481101G>A uc001qjb.2 + 16 3124 c.2883G>A c.(2881-2883)CTG>CTA p.L961L ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Silent_p.L933L|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Silent_p.L961L|ERC1_uc010sdv.1_Silent_p.L669L|ERC1_uc001qje.2_RNA NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 961 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TGGCTGCCCTGAAGCGGGAGA 0.502 NA 12 39 0 0 0.001855 0 0 KCNA6 3742 broad.mit.edu 37 12 4920437 4920437 + Silent SNP G G A rs148141793 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:4920437G>A uc001qng.2 + 1 2096 c.1230G>A c.(1228-1230)CCG>CCA p.P410P NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 410 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CCAGCATCCCGGATGCCTTCT 0.567 NA HNSCC(72;0.22) 49 82 0 0 0.00361 0 0 A2M 2 broad.mit.edu 37 12 9224999 9224999 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:9224999A>C uc001qvk.1 - 31 4172 c.4059T>G c.(4057-4059)GAT>GAG p.D1353E A2M_uc001qvj.1_Missense_Mutation_p.D395E|A2M_uc009zgk.1_Missense_Mutation_p.D1203E NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1353 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) CTTTGGGTTCATCACAAGTTT 0.428 NA 4 35 0 0 0.001168 0 0 ATF7IP 55729 broad.mit.edu 37 12 14649278 14649278 + Splice_Site SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:14649278G>A uc001rbw.2 + 14 3551 c.3393_splice c.e14+1 p.T1131_splice ATF7IP_uc001rbx.2_Splice_Site_p.T1130_splice|ATF7IP_uc001rby.3_Splice_Site_p.T1131_splice|ATF7IP_uc001rca.2_Splice_Site_p.T1131_splice NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 AGTGCATACTGTAAGTGTTGA 0.388 NA 34 17 0 0 0.00874 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028237 21028237 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:21028237G>T uc001rek.2 + 8 922 c.796G>T c.(796-798)GGA>TGA p.G266* SLCO1B3_uc001rel.2_Nonsense_Mutation_p.G266*|SLCO1B3_uc010sil.1_Nonsense_Mutation_p.G266*|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Nonsense_Mutation_p.G91* NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 266 Helical; Name=6; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) CCTTGTGTCTGGACTATTTTC 0.373 NA 100 24 2.12867e-53 3.4531e-53 0.00361 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:25398284C>G uc001rgp.1 - 2 216 c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|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.G12N(6)|p.G12G(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) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 25 6 0 0 0.008361 0 0 ITPR2 3709 broad.mit.edu 37 12 26868721 26868721 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:26868721C>G uc001rhg.2 - 7 1089 c.672G>C c.(670-672)ATG>ATC p.M224I NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 224 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) AACTATATTTCATGAATAAAG 0.358 NA 5 114 0 0 0.000602 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966616 41966616 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:41966616G>C uc010skn.1 + 10 1506 c.1438G>C c.(1438-1440)GAG>CAG p.E480Q PDZRN4_uc001rmq.3_Missense_Mutation_p.E421Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E419Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E306Q NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 679 Potential. ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CATTGAGCTTGAGTGTCAGAA 0.448 NA 16 82 0 0 0.00499 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967171 41967171 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:41967171G>A uc010skn.1 + 10 2061 c.1993G>A c.(1993-1995)GAG>AAG p.E665K PDZRN4_uc001rmq.3_Missense_Mutation_p.E606K|PDZRN4_uc009zjz.2_Missense_Mutation_p.E604K|PDZRN4_uc001rmr.2_Missense_Mutation_p.E491K NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 864 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) ATCTGCAGTCGAGTATGCTCA 0.478 NA 5 132 0 0 0.001168 0 0 ANO6 196527 broad.mit.edu 37 12 45803234 45803234 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:45803234G>T uc001roo.2 + 16 2310 c.1975G>T c.(1975-1977)GGC>TGC p.G659C ANO6_uc010sld.1_Missense_Mutation_p.G659C|ANO6_uc010sle.1_Missense_Mutation_p.G659C|ANO6_uc010slf.1_Missense_Mutation_p.G680C|ANO6_uc010slg.1_Missense_Mutation_p.G641C NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 659 Extracellular (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 GCAGCCTATGGGCAAACTGGG 0.383 NA 101 36 2.42198e-52 3.9226e-52 0.00361 1 0 RAPGEF3 10411 broad.mit.edu 37 12 48141561 48141561 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:48141561G>A uc009zkp.2 - 13 1721 c.1281C>T c.(1279-1281)GTC>GTT p.V427V RAPGEF3_uc001rpx.2_5'Flank|RAPGEF3_uc010sln.1_5'UTR|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.V427V|RAPGEF3_uc001rpz.3_Silent_p.V469V|RAPGEF3_uc001rqa.2_5'UTR NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 427 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CCCACTGGCTGACCAGCCGCA 0.647 NA 6 34 0 0 0.001984 0 0 MLL2 8085 broad.mit.edu 37 12 49439942 49439942 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:49439942G>T uc001rta.3 - 17 4599 c.4599C>A c.(4597-4599)GGC>GGA p.G1533G NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1533 RING-type 3; atypical.|PHD-type 5. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGCTCTCACAGCCTGCATGCA 0.557 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 13 0.00909568 0.00941286 0.009096 1 0 LIMA1 51474 broad.mit.edu 37 12 50586328 50586328 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:50586328C>G uc001rwj.3 - 9 1221 c.1047G>C c.(1045-1047)AAG>AAC p.K349N LIMA1_uc001rwg.3_Missense_Mutation_p.K47N|LIMA1_uc001rwh.3_Missense_Mutation_p.K189N|LIMA1_uc001rwi.3_Missense_Mutation_p.K190N|LIMA1_uc001rwk.3_Missense_Mutation_p.K350N|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 349 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 GAACCTCACTCTTAACCTGGG 0.448 NA 3 66 0 0 0.000602 0 0 PCBP2 5094 broad.mit.edu 37 12 53849708 53849708 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:53849708G>C uc001sdl.3 + 5 516 c.166G>C c.(166-168)GAG>CAG p.E56Q PCBP2_uc001sdc.3_Missense_Mutation_p.E56Q|PCBP2_uc001sdb.3_Missense_Mutation_p.E56Q|PCBP2_uc001sde.3_Missense_Mutation_p.E56Q|PCBP2_uc001sdi.3_Missense_Mutation_p.E56Q|PCBP2_uc001sdd.3_Missense_Mutation_p.E56Q|PCBP2_uc001sdf.3_Missense_Mutation_p.E56Q|PCBP2_uc009zna.2_Intron|PCBP2_uc010soh.1_Missense_Mutation_p.E56Q|PCBP2_uc009zmz.1_Intron NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 isoform d 56 KH 1. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding 0 GAATTGTCCTGAGAGAATTAT 0.413 NA 19 249 0 0 0.001882 0 0 OR6C2 341416 broad.mit.edu 37 12 55846495 55846495 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:55846495C>G uc001sgz.1 + 1 498 c.498C>G c.(496-498)TTC>TTG p.F166L NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 166 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 AGCTCGAATTCTGTGACTCCA 0.438 NA 21 234 0 0 0.00333 0 0 DNAJC14 85406 broad.mit.edu 37 12 56222305 56222305 + Silent SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:56222305A>C uc001shx.1 - 2 342 c.138T>G c.(136-138)GCT>GCG p.A46A DNAJC14_uc001shu.1_Silent_p.A46A|DNAJC14_uc009zob.1_Silent_p.A46A|DNAJC14_uc001shy.1_Silent_p.A46A NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 46 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 TACCATTAGGAGCAGTCCCTG 0.602 NA 85 98 0 0 0.00361 0 0 PAN2 9924 broad.mit.edu 37 12 56712162 56712162 + Nonsense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:56712162G>A uc001skx.2 - 25 3806 c.3433C>T c.(3433-3435)CAG>TAG p.Q1145* CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Nonsense_Mutation_p.Q293*|PAN2_uc001skz.2_Nonsense_Mutation_p.Q1144*|PAN2_uc001sky.2_Nonsense_Mutation_p.Q1141* NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 1145 Exonuclease. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 CGGTACAGCTGAAGGGCTGTG 0.493 NA 20 152 0 0 0.003954 0 0 LRP1 4035 broad.mit.edu 37 12 57605102 57605102 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:57605102G>A uc001snd.2 + 84 13526 c.13060G>A c.(13060-13062)GTC>ATC p.V4354I NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 4354 EGF-like 21.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGCCTGTGTGGTCAACAAGCA 0.527 NA 45 91 0 0 0.00361 0 0 SRGAP1 57522 broad.mit.edu 37 12 64437254 64437254 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:64437254C>A uc010ssp.1 + 6 756 c.700C>A c.(700-702)CTA>ATA p.L234I SRGAP1_uc001srt.2_Missense_Mutation_p.L234I|SRGAP1_uc001srv.2_Missense_Mutation_p.L194I NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 234 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AGAAAATAAGCTAAAATCAAT 0.343 NA 33 16 8.69298e-16 1.1821e-15 0.006999 1 0 XPOT 11260 broad.mit.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:64812733G>A uc001ssb.2 + 6 774 c.348G>A c.(346-348)GAG>GAA p.E116E XPOT_uc009zqm.1_Silent_p.E26E NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 116 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) TTGTTACAGAGTATCTCACTA 0.438 NA 3 87 0 0 0.009096 0 0 TRHDE 29953 broad.mit.edu 37 12 72667195 72667195 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:72667195C>A uc001sxa.2 + 1 667 c.637C>A c.(637-639)CAA>AAA p.Q213K LOC283392_uc010stv.1_5'UTR NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 213 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CCTCTACCCGCAAACCCAGGT 0.567 NA 12 114 6.31663e-08 7.38526e-08 0.003163 1 0 OSBPL8 114882 broad.mit.edu 37 12 76786453 76786453 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:76786453C>T uc001sye.1 - 10 1317 c.837G>A c.(835-837)AAG>AAA p.K279K OSBPL8_uc001syf.1_Silent_p.K237K|OSBPL8_uc001syg.1_Silent_p.K237K|OSBPL8_uc001syh.1_Silent_p.K254K NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 279 lipid transport lipid binding ovary(1) 1 GGTCATGTTCCTTTCCTTCTC 0.408 NA 10 69 0 0 0.000978 0 0 TMTC3 160418 broad.mit.edu 37 12 88584229 88584229 + Splice_Site SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:88584229G>C uc001tau.2 + 12 1757 c.1537_splice c.e12-1 p.I513_splice NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat integral to membrane binding skin(1) 1 CTTCTAAACAGATTATTCCTG 0.348 NA 12 59 0 0 0.001855 0 0 AMDHD1 144193 broad.mit.edu 37 12 96354210 96354210 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:96354210A>G uc001tel.1 + 5 728 c.622A>G c.(622-624)ATC>GTC p.I208V AMDHD1_uc009zth.1_Missense_Mutation_p.I99V NM_152435 NP_689648 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 208 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1) 1 TGATGACATCATCAATAACCA 0.403 NA 8 43 0 0 0.008291 0 0 C12orf63 374467 broad.mit.edu 37 12 97158910 97158910 + Missense_Mutation SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:97158910T>G uc001tet.1 + 27 3548 c.3470T>G c.(3469-3471)ATG>AGG p.M1157R NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 1157 skin(6)|ovary(1) 7 AATACTAGAATGCATAAAGTT 0.323 NA 66 68 0 0 0.00361 0 0 ANKS1B 56899 broad.mit.edu 37 12 100166819 100166819 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:100166819G>C uc001tge.1 - 8 1426 c.1009C>G c.(1009-1011)CTC>GTC p.L337V ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.L303V NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 337 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) TCTTGACAGAGTTTTATTTCA 0.333 NA 25 19 0 0 0.008361 0 0 SLC17A8 246213 broad.mit.edu 37 12 100811895 100811895 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:100811895G>T uc010svi.1 + 11 1699 c.1386G>T c.(1384-1386)ATG>ATT p.M462I SLC17A8_uc009ztx.2_Missense_Mutation_p.M412I NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 462 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TCTCTGGAATGGTCTGTCCCC 0.502 NA 48 57 3.21867e-24 4.77594e-24 0.00361 1 0 STAB2 55576 broad.mit.edu 37 12 104025458 104025458 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:104025458C>T uc001tjw.2 + 6 756 c.570C>T c.(568-570)CCC>CCT p.P190P NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 190 Extracellular (Potential).|EGF-like 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 ACACTGGCCCCAAGTGTGACA 0.483 NA 20 129 0 0 0.001882 0 0 STAB2 55576 broad.mit.edu 37 12 104049082 104049082 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:104049082A>G uc001tjw.2 + 14 1791 c.1605A>G c.(1603-1605)TTA>TTG p.L535L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 535 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GATCTTTGTTAGAGGTAAGCA 0.294 NA 53 53 0 0 0.00361 0 0 STAB2 55576 broad.mit.edu 37 12 104152923 104152923 + Silent SNP C C A rs112523896 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:104152923C>A uc001tjw.2 + 65 7306 c.7120C>A c.(7120-7122)CGG>AGG p.R2374R STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2374 Extracellular (Potential).|FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTTGTCTGGGCGGGACATCGA 0.463 NA 98 60 5.41809e-49 8.73299e-49 0.00361 1 0 MMAB 326625 broad.mit.edu 37 12 109994891 109994891 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:109994891C>A uc001tou.2 - 9 768 c.695G>T c.(694-696)GGG>GTG p.G232V MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Missense_Mutation_p.G141V|MMAB_uc001tox.2_Missense_Mutation_p.G180V NM_052845 NP_443077 Q96EY8 MMAB_HUMAN cob(I)alamin adenosyltransferase precursor 232 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity 0 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTCTTGATTCCCCTCCTTCAT 0.478 NA 43 25 6.14515e-18 8.62372e-18 0.00361 1 0 CUX2 23316 broad.mit.edu 37 12 111749936 111749936 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:111749936A>G uc001tsa.1 + 16 2086 c.1933A>G c.(1933-1935)ACA>GCA p.T645A NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 645 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CACGCCTGAGACAGGCTCAGA 0.612 NA 6 23 0 0 0.006214 0 0 ATXN2 6311 broad.mit.edu 37 12 111956120 111956120 + Silent SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:111956120T>G uc001tsj.2 - 9 1740 c.1578A>C c.(1576-1578)TCA>TCC p.S526S ATXN2_uc001tsh.2_Silent_p.S261S|ATXN2_uc001tsi.2_Silent_p.S237S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.S261S NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 526 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 AAGTGGATCTTGATGGCATGG 0.453 NA 31 137 0 0 0.004878 0 0 ACAD10 80724 broad.mit.edu 37 12 112130648 112130648 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:112130648G>C uc001tsq.2 + 2 335 c.135G>C c.(133-135)GTG>GTC p.V45V ACAD10_uc009zvw.2_Silent_p.V45V|ACAD10_uc001tso.3_Silent_p.V45V|ACAD10_uc001tsp.2_Silent_p.V45V|ACAD10_uc009zvx.2_Silent_p.V45V NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 45 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 ACAGAGCGGTGATTTTCGACA 0.567 NA 24 114 0 0 0.008361 0 0 C12orf51 283450 broad.mit.edu 37 12 112717042 112717042 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:112717042T>C uc009zwc.2 - 3 513 c.495A>G c.(493-495)TCA>TCG p.S165S NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TTTTTAAAGATGACAAACCAC 0.398 NA 45 18 0 0 0.00361 0 0 ATP8A2 51761 broad.mit.edu 37 13 26402301 26402301 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr13:26402301G>C uc001uqk.2 + 28 2867 c.2725G>C c.(2725-2727)GAA>CAA p.E909Q ATP8A2_uc010tdi.1_Intron|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.E459Q NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 869 Extracellular (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GATTTTATTTGAACGTTGGTG 0.373 NA 23 55 0 0 0.007291 0 0 NBEA 26960 broad.mit.edu 37 13 36046592 36046592 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr13:36046592G>T uc001uvb.2 + 41 6710 c.6504G>T c.(6502-6504)AAG>AAT p.K2168N NBEA_uc010abi.2_Missense_Mutation_p.K824N|NBEA_uc010tee.1_Translation_Start_Site NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2168 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGGTGGCCAAGGGGACTCTCT 0.567 NA 22 27 1.64293e-13 2.16413e-13 0.00333 1 0 TRPC4 7223 broad.mit.edu 37 13 38320089 38320089 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr13:38320089C>A uc001uws.2 - 3 1117 c.882G>T c.(880-882)AAG>AAT p.K294N TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.K294N|TRPC4_uc010tey.1_Missense_Mutation_p.K294N|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Missense_Mutation_p.K294N|TRPC4_uc010aby.2_Missense_Mutation_p.K294N NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 294 Cytoplasmic (Potential).|Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTTGACGGTACTTAATGGCCA 0.373 NA 47 178 1.82294e-38 2.89205e-38 0.00361 1 0 ARL11 115761 broad.mit.edu 37 13 50204835 50204835 + Silent SNP C C A rs145617860 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr13:50204835C>A uc001vdf.1 + 2 398 c.252C>A c.(250-252)CTC>CTA p.L84L NM_138450 NP_612459 Q969Q4 ARL11_HUMAN ADP-ribosylation factor-like 11 84 small GTPase mediated signal transduction intracellular GTP binding|protein binding 0 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) CAGATATCCTCGTGTACGTGC 0.607 NA 30 54 1.61788e-16 2.22403e-16 0.002445 1 0 CKAP2 26586 broad.mit.edu 37 13 53029722 53029722 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr13:53029722C>A uc001vgv.2 + 1 228 c.31C>A c.(31-33)CAG>AAG p.Q11K CKAP2_uc001vgt.2_Missense_Mutation_p.Q11K|CKAP2_uc001vgu.2_Missense_Mutation_p.Q11K|CKAP2_uc010tha.1_5'Flank NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 11 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) CCAGGACCTGCAGCTGCCCCC 0.468 NA 9 41 2.80697e-09 3.38784e-09 0.000978 1 0 LOC647288 647288 broad.mit.edu 37 13 75814397 75814398 + Missense_Mutation DNP GG GG TT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr13:75814397_75814398GG>TT uc010ths.1 - 1 120_121 c.79_80CC>AA c.(79-81)CCT>AAT p.P27N NR_027466 Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327). 0 CATACTCTCAGGTAGTGCTGCC 0.545 NA 6 29 0 0 0.004672 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369289 86369289 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr13:86369289G>T uc001vll.1 - 2 1814 c.1355C>A c.(1354-1356)CCA>CAA p.P452Q SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 452 Extracellular (Potential).|LRR 9. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AAAGGTTCCTGGCAGTATTTC 0.358 NA 5 38 0.000602214 0.00064368 0.000602 1 0 SLITRK5 26050 broad.mit.edu 37 13 88328530 88328530 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr13:88328530C>T uc001vln.2 + 2 1106 c.887C>T c.(886-888)CCG>CTG p.P296L SLITRK5_uc010tic.1_Missense_Mutation_p.P55L NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 296 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GAGATGAGGCCGCAGACGCCT 0.532 NA 30 41 0 0 0.00623 0 0 ITGBL1 9358 broad.mit.edu 37 13 102250501 102250501 + Splice_Site SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr13:102250501A>T uc001vpb.2 + 7 1088 c.869_splice c.e7-2 p.G290_splice ITGBL1_uc010agb.2_Splice_Site_p.G241_splice|ITGBL1_uc001vpc.3_Splice_Site_p.G149_splice NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTCACTGTGAAGGTCATGGAC 0.423 NA 36 74 0 0 0.00361 0 0 OR4L1 122742 broad.mit.edu 37 14 20528637 20528637 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:20528637C>T uc001vwn.1 + 1 434 c.434C>T c.(433-435)GCG>GTG p.A145V NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 145 Helical; Name=4; (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) AAGGGGTTTGCGATACTTTCA 0.388 NA 30 47 0 0 0.002836 0 0 RNASE10 338879 broad.mit.edu 37 14 20979113 20979113 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:20979113C>G uc010tlj.1 + 1 483 c.483C>G c.(481-483)CTC>CTG p.L161L RNASE10_uc001vxp.2_Silent_p.L189L NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 161 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) CCTGTGAGCTCAAGGGGGGAA 0.478 NA 12 40 0 0 0.003163 0 0 SALL2 6297 broad.mit.edu 37 14 21991583 21991583 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:21991583T>C uc001wbe.2 - 2 2561 c.2279A>G c.(2278-2280)GAG>GGG p.E760G SALL2_uc010tly.1_Missense_Mutation_p.E758G|SALL2_uc010tlz.1_Missense_Mutation_p.E623G|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.E625G|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 760 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) AGACAACTCCTCTTCCGGTGA 0.478 NA 20 23 0 0 0.00278 0 0 DCAF11 80344 broad.mit.edu 37 14 24588398 24588398 + Nonsense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:24588398C>G uc001wlv.2 + 9 1104 c.824C>G c.(823-825)TCA>TGA p.S275* DCAF11_uc001wlw.2_Nonsense_Mutation_p.S275*|DCAF11_uc001wlz.2_Nonsense_Mutation_p.S175*|DCAF11_uc001wly.2_Nonsense_Mutation_p.S231*|DCAF11_uc001wme.2_Nonsense_Mutation_p.S235*|DCAF11_uc010tny.1_Nonsense_Mutation_p.S142*|DCAF11_uc001wmd.2_Nonsense_Mutation_p.S275*|DCAF11_uc001wmc.2_Nonsense_Mutation_p.S175*|DCAF11_uc001wmb.3_Nonsense_Mutation_p.S249*|DCAF11_uc001wma.3_Nonsense_Mutation_p.S275* NM_001163484 NP_001156956 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 isoform 1 275 WD 3. CUL4 RING ubiquitin ligase complex protein binding 0 GCTGTCTCCTCAGATGGACGA 0.478 NA 24 116 0 0 0.007291 0 0 AKAP6 9472 broad.mit.edu 37 14 33015208 33015208 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:33015208C>T uc001wrq.2 + 4 1519 c.1349C>T c.(1348-1350)TCT>TTT p.S450F AKAP6_uc010aml.2_Missense_Mutation_p.S447F NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 450 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AACAGCCCTTCTGCTGCCAGC 0.468 Melanoma(49;821 1200 7288 13647 42351) NA 40 211 0 0 0.00361 0 0 SEC23A 10484 broad.mit.edu 37 14 39512034 39512034 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:39512034G>C uc001wup.1 - 17 2165 c.1942C>G c.(1942-1944)CTT>GTT p.L648V SEC23A_uc010tqa.1_Missense_Mutation_p.L534V|SEC23A_uc010tqb.1_Missense_Mutation_p.L619V NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 648 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TCCATGAGAAGAATACGATCT 0.328 NA 5 107 0 0 0.000602 0 0 LRFN5 145581 broad.mit.edu 37 14 42360560 42360560 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:42360560C>A uc001wvm.2 + 4 2691 c.1493C>A c.(1492-1494)ACT>AAT p.T498N LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 498 Extracellular (Potential).|Fibronectin type-III. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) ACTTCCCTCACTGCCACAAGA 0.453 NA HNSCC(30;0.082) 47 184 1.54886e-18 2.18574e-18 0.00361 1 0 LRFN5 145581 broad.mit.edu 37 14 42360851 42360851 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:42360851G>C uc001wvm.2 + 4 2982 c.1784G>C c.(1783-1785)GGA>GCA p.G595A LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 595 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CAAGCTGTGGGACACGAAGAG 0.473 NA HNSCC(30;0.082) 22 33 0 0 0.007291 0 0 FSCB 84075 broad.mit.edu 37 14 44975043 44975043 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:44975043T>C uc001wvn.2 - 1 1457 c.1148A>G c.(1147-1149)GAA>GGA p.E383G NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 383 Pro-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) AGACCGAATTTCACCAAGAAG 0.527 NA 38 67 0 0 0.00361 0 0 NID2 22795 broad.mit.edu 37 14 52508850 52508850 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:52508850C>A uc001wzo.2 - 7 2032 c.1798G>T c.(1798-1800)GGC>TGC p.G600C NID2_uc010tqs.1_Missense_Mutation_p.G600C|NID2_uc010tqt.1_Missense_Mutation_p.G600C|NID2_uc001wzp.2_Missense_Mutation_p.G600C NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 600 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TTCTCAGAGCCAGGTTTTTCT 0.587 NA 20 61 3.51602e-12 4.52508e-12 0.008871 1 0 FERMT2 10979 broad.mit.edu 37 14 53385933 53385933 + Missense_Mutation SNP C C A rs141887548 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:53385933C>A uc001xad.2 - 3 354 c.299G>T c.(298-300)CGC>CTC p.R100L FERMT2_uc001xac.2_Missense_Mutation_p.R100L|FERMT2_uc001xae.2_Missense_Mutation_p.R100L|FERMT2_uc001xaf.2_Missense_Mutation_p.R100L NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 100 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) AAGCTGCAGGCGGAGCAGTTT 0.418 NA 35 96 2.45108e-15 3.3152e-15 0.00874 1 0 ACTN1 87 broad.mit.edu 37 14 69445737 69445737 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:69445737T>C uc001xkl.2 - 1 347 c.37A>G c.(37-39)ATG>GTG p.M13V ACTN1_uc010ttb.1_5'Flank|ACTN1_uc001xkm.2_Missense_Mutation_p.M13V|ACTN1_uc001xkn.2_Missense_Mutation_p.M13V|ACTN1_uc001xko.1_5'Flank|ACTN1_uc010ttd.1_5'Flank NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 13 Actin-binding. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TCTGGCTGCATGTAATCGTTG 0.572 NA 30 50 0 0 0.004878 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634159 70634159 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:70634159G>C uc001xly.2 - 2 1735 c.981C>G c.(979-981)CAC>CAG p.H327Q SLC8A3_uc001xlw.2_Missense_Mutation_p.H327Q|SLC8A3_uc001xlx.2_Missense_Mutation_p.H327Q|SLC8A3_uc001xlz.2_Missense_Mutation_p.H327Q|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 327 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCTTCTCTGGGTGTTTTTGCT 0.512 NA 25 42 0 0 0.00632 0 0 ADAM20 8748 broad.mit.edu 37 14 70989767 70989767 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:70989767C>A uc001xme.2 - 2 2103 c.1858G>T c.(1858-1860)GGA>TGA p.G620* NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 570 Cys-rich.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GGAATTACTCCCACATTTTCA 0.453 NA 18 43 1.15919e-05 1.28955e-05 0.008871 1 0 FLVCR2 55640 broad.mit.edu 37 14 76107373 76107373 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:76107373C>A uc001xrs.2 + 7 1687 c.1311C>A c.(1309-1311)ATC>ATA p.I437I FLVCR2_uc010tvd.1_Silent_p.I232I NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular 437 Helical; (Potential). transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity 0 BRCA - Breast invasive adenocarcinoma(234;0.029) CAGAAGGCATCTCCTCCGGCC 0.502 NA 17 52 1.36565e-18 1.92988e-18 0.00278 1 0 TRIP11 9321 broad.mit.edu 37 14 92471799 92471799 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:92471799T>A uc001xzy.2 - 11 3309 c.2521A>T c.(2521-2523)AAT>TAT p.N841Y TRIP11_uc010auf.1_Missense_Mutation_p.N577Y NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 841 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) AAAATTTCATTTTTTCTTAAG 0.333 Ovarian(84;609 1888 9852 42686) NA T PDGFRB AML 11 19 0 0 0.001368 0 0 BCL11B 64919 broad.mit.edu 37 14 99640725 99640725 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:99640725C>A uc001yga.2 - 4 2715 c.2448G>T c.(2446-2448)CGG>CGT p.R816R BCL11B_uc001ygb.2_Silent_p.R745R NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 816 C2H2-type 4. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CGGTGTGGCTCCGCCGGTGCA 0.602 NA T TLX3 T-ALL 21 19 4.26978e-12 5.46727e-12 0.00333 1 0 WARS 7453 broad.mit.edu 37 14 100801274 100801274 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:100801274C>T uc001yhf.1 - 10 1438 c.1354G>A c.(1354-1356)GTC>ATC p.V452I WARS_uc001yhe.1_Missense_Mutation_p.V258I|WARS_uc001yhg.1_Missense_Mutation_p.V452I|WARS_uc001yhh.1_Missense_Mutation_p.V452I|WARS_uc001yhi.1_Missense_Mutation_p.V411I|WARS_uc001yhj.1_Missense_Mutation_p.V411I|WARS_uc001yhk.1_Missense_Mutation_p.V411I|WARS_uc001yhl.1_Missense_Mutation_p.V452I NM_173701 NP_776049 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase isoform a 452 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(1) 1 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TCATCCGTGACCTCCTTGCGC 0.512 NA 10 84 0 0 0.008291 0 0 DLK1 8788 broad.mit.edu 37 14 101200499 101200499 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:101200499C>A uc001yhs.3 + 5 571 c.418C>A c.(418-420)CAC>AAC p.H140N DLK1_uc001yhu.3_Missense_Mutation_p.H140N NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 140 Extracellular (Potential).|EGF-like 4. multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) CCCCTGCCAGCACGGAGGCAC 0.647 NA 9 36 4.68919e-08 5.51444e-08 0.008291 1 0 DLK1 8788 broad.mit.edu 37 14 101201212 101201212 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:101201212G>A uc001yhs.3 + 5 1284 c.1131G>A c.(1129-1131)GAG>GAA p.E377E DLK1_uc001yhu.3_Silent_p.E304E NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 377 Cytoplasmic (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) TCAGCAAGGAGGCCGGCGACG 0.547 NA 15 114 0 0 0.007413 0 0 C14orf180 400258 broad.mit.edu 37 14 105054091 105054091 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:105054091C>G uc001yow.1 + 3 418 c.117C>G c.(115-117)GAC>GAG p.D39E C14orf180_uc010tyh.1_Missense_Mutation_p.D39E|C14orf180_uc010awy.1_Missense_Mutation_p.D39E NM_001008404 NP_001008404 Q8N912 CN180_HUMAN hypothetical protein LOC400258 39 integral to membrane 0 Melanoma(154;0.226) all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.127) ACCAGGAGGACAACAGGAAGT 0.701 NA 3 15 0 0 0.004672 0 0 CYFIP1 23191 broad.mit.edu 37 15 22963800 22963800 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:22963800G>T uc001yus.2 + 21 2418 c.2314G>T c.(2314-2316)GTC>TTC p.V772F CYFIP1_uc001yut.2_Missense_Mutation_p.V772F|CYFIP1_uc010aya.1_Missense_Mutation_p.V800F|CYFIP1_uc001yuu.2_Missense_Mutation_p.V341F NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 772 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CACCCAGCGCGTCTCAGCAGC 0.478 NA 44 31 1.51926e-22 2.23785e-22 0.00361 1 0 GABRB3 2562 broad.mit.edu 37 15 26806080 26806080 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:26806080C>A uc001zaz.2 - 8 1221 c.1079G>T c.(1078-1080)CGG>CTG p.R360L GABRB3_uc010uae.1_Missense_Mutation_p.R275L|GABRB3_uc001zba.2_Missense_Mutation_p.R360L|GABRB3_uc001zbb.2_Missense_Mutation_p.R416L NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 360 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGAGCCTACCCGGTTGCTTTC 0.478 NA 47 76 6.56871e-35 1.02757e-34 0.00361 1 0 TRPM1 4308 broad.mit.edu 37 15 31319284 31319284 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:31319284C>A uc001zfm.2 - 25 3392 c.3264G>T c.(3262-3264)CAG>CAT p.Q1088H TRPM1_uc010azy.2_Missense_Mutation_p.Q995H|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1088 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ACTTCCACACCTGGTTGGATA 0.368 NA 20 32 1.55469e-16 2.14301e-16 0.00333 1 0 TRPM1 4308 broad.mit.edu 37 15 31354895 31354895 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:31354895C>A uc001zfm.2 - 8 1038 c.910G>T c.(910-912)GAG>TAG p.E304* TRPM1_uc010azy.2_Nonsense_Mutation_p.E211*|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 304 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTGAGGGACTCATTTATTATT 0.333 NA 17 13 4.63292e-17 6.42118e-17 0.008871 1 0 ACTC1 70 broad.mit.edu 37 15 35085482 35085482 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:35085482C>A uc001ziu.1 - 3 661 c.418G>T c.(418-420)GCA>TCA p.A140S uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 140 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GATAGCACTGCCTGGATGGCC 0.552 NA 14 73 3.45872e-05 3.80572e-05 0.004007 1 0 PLCB2 5330 broad.mit.edu 37 15 40582792 40582792 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:40582792C>A uc001zld.2 - 29 3496 c.3195G>T c.(3193-3195)AAG>AAT p.K1065N PLCB2_uc001zlc.2_Missense_Mutation_p.K49N|PLCB2_uc010bbo.2_Missense_Mutation_p.K1061N|PLCB2_uc010ucm.1_Missense_Mutation_p.K1050N NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1065 Potential. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CCTGGGCCATCTTGTCTGTGG 0.567 NA 125 95 9.91784e-70 1.62453e-69 0.00361 1 0 FRMD5 84978 broad.mit.edu 37 15 44175919 44175919 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:44175919G>C uc001ztl.2 - 13 1294 c.1117C>G c.(1117-1119)CAC>GAC p.H373D FRMD5_uc001ztj.1_Missense_Mutation_p.H46D|FRMD5_uc001ztk.1_Missense_Mutation_p.H279D|FRMD5_uc010uef.1_Missense_Mutation_p.H46D|FRMD5_uc001ztm.2_Missense_Mutation_p.H46D|FRMD5_uc001ztn.2_Missense_Mutation_p.H139D NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 isoform 2 373 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) ATGGAGATGTGAACAGCTCTT 0.547 NA 26 73 0 0 0.003755 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056403 48056403 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:48056403T>A uc010bek.2 + 11 1358 c.998T>A c.(997-999)ATG>AAG p.M333K SEMA6D_uc001zvw.2_Missense_Mutation_p.M333K|SEMA6D_uc001zvx.1_Missense_Mutation_p.M333K|SEMA6D_uc001zvy.2_Missense_Mutation_p.M333K|SEMA6D_uc001zvz.2_Missense_Mutation_p.M333K|SEMA6D_uc001zwa.2_Missense_Mutation_p.M333K|SEMA6D_uc001zwb.2_Missense_Mutation_p.M333K|SEMA6D_uc001zwc.2_Missense_Mutation_p.M333K NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 333 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GCATTTAGCATGGATGACATT 0.458 NA 13 50 0 0 0.003163 0 0 MYEF2 50804 broad.mit.edu 37 15 48459593 48459593 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:48459593C>G uc001zwi.3 - 3 500 c.376G>C c.(376-378)GAG>CAG p.E126Q MYEF2_uc001zwj.3_Missense_Mutation_p.E126Q|MYEF2_uc001zwl.2_Intron NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 126 RRM 1. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TATGTAACCTCACCAACTACA 0.403 NA 3 56 0 0 0.001168 0 0 ATP8B4 79895 broad.mit.edu 37 15 50168682 50168682 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:50168682G>T uc001zxu.2 - 25 2962 c.2820C>A c.(2818-2820)CTC>CTA p.L940L ATP8B4_uc010ber.2_Silent_p.L813L|ATP8B4_uc010ufd.1_Silent_p.L750L|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_5'UTR NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 940 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTGGTTTGTAGAGCTGGGGAC 0.428 NA 28 76 1.22384e-17 1.70795e-17 0.002836 1 0 AP4E1 23431 broad.mit.edu 37 15 51285706 51285706 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:51285706G>T uc001zyx.1 + 17 2260 c.2230G>T c.(2230-2232)GCT>TCT p.A744S NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 744 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TGTAGATCAAGCTATAACTAA 0.408 NA 4 32 0.00909568 0.00941286 0.009096 1 0 RAB27A 5873 broad.mit.edu 37 15 55516109 55516109 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:55516109T>C uc002aco.2 - 6 678 c.445A>G c.(445-447)ATA>GTA p.I149V RAB27A_uc002acr.2_Missense_Mutation_p.I149V|RAB27A_uc002acp.2_Missense_Mutation_p.I149V|RAB27A_uc002acq.2_Missense_Mutation_p.I149V NM_183234 NP_899057 P51159 RB27A_HUMAN Ras-related protein Rab-27A 149 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity ovary(1) 1 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) GCGAGTGCTATGGCTTCCTCC 0.398 NA 72 189 0 0 0.00361 0 0 PYGO1 26108 broad.mit.edu 37 15 55839204 55839204 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:55839204G>A uc010bfl.1 - 3 333 c.277C>T c.(277-279)CCT>TCT p.P93S PYGO1_uc002adf.1_Missense_Mutation_p.P93S NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 93 Pro-rich. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GGATAACCAGGGCCAAGATAT 0.438 NA 23 120 0 0 0.009535 0 0 NEDD4 4734 broad.mit.edu 37 15 56140574 56140574 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:56140574C>A uc002adj.2 - 13 3095 c.2795G>T c.(2794-2796)GGA>GTA p.G932V NEDD4_uc002adl.2_Missense_Mutation_p.G513V|NEDD4_uc002adi.2_Missense_Mutation_p.G860V|NEDD4_uc010ugj.1_Missense_Mutation_p.G916V|NEDD4_uc010bfm.2_Missense_Mutation_p.G915V|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 932 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) ACTTACTGGTCCAGTTATTGC 0.438 NA 72 175 6.20368e-34 9.68965e-34 0.00361 1 0 LIPC 3990 broad.mit.edu 37 15 58840561 58840561 + Nonsense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:58840561C>T uc010bga.1 + 8 1449 c.841C>T c.(841-843)CGA>TGA p.R281* LIPC_uc010bfz.1_Nonsense_Mutation_p.R281*|LIPC_uc002afa.1_Nonsense_Mutation_p.R281*|LIPC_uc010bgb.1_Nonsense_Mutation_p.R179*|LIPC_uc010ugy.1_Nonsense_Mutation_p.R220* NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 281 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CTCCCACGAGCGATCGGTGCA 0.572 NA 13 135 0 0 0.007413 0 0 RORA 6095 broad.mit.edu 37 15 60795032 60795032 + Silent SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:60795032A>C uc002agv.2 - 9 1365 c.1209T>G c.(1207-1209)CGT>CGG p.R403R uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.R315R|RORA_uc002agw.2_Silent_p.R395R|RORA_uc002agx.2_Silent_p.R370R NM_134260 NP_599022 P35398 RORA_HUMAN RAR-related orphan receptor A isoform b 403 Ligand-binding. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding large_intestine(1)|ovary(1) 2 AGTCAAAGGCACGGCACATTC 0.458 NA 77 236 0 0 0.00361 0 0 CLPX 10845 broad.mit.edu 37 15 65450964 65450964 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:65450964C>A uc002aom.2 - 7 913 c.841G>T c.(841-843)GAC>TAC p.D281Y CLPX_uc010uiu.1_Intron|CLPX_uc010bhg.1_Missense_Mutation_p.D281Y NM_006660 NP_006651 O76031 CLPX_HUMAN ClpX caseinolytic protease X homolog precursor 281 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding 0 AGTTTTATGTCATCATGAGAA 0.353 NA 17 117 2.4624e-09 2.99344e-09 0.008871 1 0 IGDCC4 57722 broad.mit.edu 37 15 65684477 65684477 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:65684477T>A uc002aou.1 - 11 2327 c.2117A>T c.(2116-2118)CAG>CTG p.Q706L IGDCC4_uc002aot.1_Missense_Mutation_p.Q294L NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 706 Extracellular (Potential).|Fibronectin type-III 3. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 CTCACCTAGCTGGGTCAGCTC 0.607 NA 18 123 0 0 0.008871 0 0 ANP32A 8125 broad.mit.edu 37 15 69072434 69072434 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:69072434C>G uc002arl.2 - 7 907 c.736G>C c.(736-738)GAA>CAA p.E246Q NM_006305 NP_006296 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 246 Interaction with E4F1 (By similarity).|Asp/Glu-rich (highly acidic). intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding 0 TCATCATCTTCTCCCTCATCT 0.418 NA 7 60 0 0 0.006214 0 0 LOC645752 645752 broad.mit.edu 37 15 78207594 78207594 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:78207594C>G uc010bky.2 - 18 2082 c.1318G>C c.(1318-1320)GGT>CGT p.G440R LOC645752_uc010umq.1_Missense_Mutation_p.G87R|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 TGGGGAGAACCCTCCCTGGCC 0.592 NA 38 11 0 0 0.00874 0 0 CHRNA3 1136 broad.mit.edu 37 15 78888978 78888978 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:78888978G>C uc002bec.2 - 6 1672 c.1486C>G c.(1486-1488)CTG>GTG p.L496V CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Intron|CHRNA3_uc010blg.1_RNA NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 496 Helical; (Potential). activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 AGGGGTTGCAGAAACAATCCT 0.498 NA 35 72 0 0 0.005524 0 0 TMC3 342125 broad.mit.edu 37 15 81635632 81635633 + Missense_Mutation DNP GG GG TT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:81635632_81635633GG>TT uc002bgo.1 - 15 1701_1702 c.1701_1702CC>AA c.(1699-1704)AACCAA>AAAAAA p.567_568NQ>KK TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.567_568NQ>KK NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 567_568 Extracellular (Potential). integral to membrane ovary(1)|liver(1) 2 ATCATTCCTTGGTTGTAGACTA 0.351 NA 16 69 0 0 0.004672 0 0 CPEB1 64506 broad.mit.edu 37 15 83226530 83226530 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:83226530C>A uc002bit.2 - 4 903 c.766G>T c.(766-768)GAT>TAT p.D256Y CPEB1_uc002biq.2_Missense_Mutation_p.D121Y|CPEB1_uc002bir.2_Missense_Mutation_p.D121Y|CPEB1_uc002bis.2_Missense_Mutation_p.D121Y|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Missense_Mutation_p.D199Y|CPEB1_uc002biu.2_Missense_Mutation_p.D223Y|CPEB1_uc010uof.1_Missense_Mutation_p.D121Y|CPEB1_uc002biv.2_Missense_Mutation_p.D196Y|CPEB1_uc002bip.2_5'Flank NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 196 Ser-rich. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) GAGAGATGATCTGATCCAGAG 0.522 NA 22 94 8.24728e-16 1.12301e-15 0.004656 1 0 ALPK3 57538 broad.mit.edu 37 15 85399757 85399757 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:85399757G>A uc002ble.2 + 6 2561 c.2394G>A c.(2392-2394)GGG>GGA p.G798G NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 798 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGGAGGATGGGAGAACATCTG 0.512 NA 12 61 0 0 0.001368 0 0 ACAN 176 broad.mit.edu 37 15 89383370 89383370 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:89383370C>G uc010upo.1 + 4 956 c.582C>G c.(580-582)GAC>GAG p.D194E ACAN_uc002bmx.2_Missense_Mutation_p.D194E|ACAN_uc010upp.1_Missense_Mutation_p.D194E|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 194 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCTACGAAGACGGCTTCCACC 0.647 NA 3 19 0 0 0.009096 0 0 ACAN 176 broad.mit.edu 37 15 89398664 89398664 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:89398664G>A uc010upo.1 + 12 3222 c.2848G>A c.(2848-2850)GGA>AGA p.G950R ACAN_uc010upp.1_Missense_Mutation_p.G950R|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 950 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTCTGCCTCTGGAGTTGGGGA 0.547 NA 29 42 0 0 0.008361 0 0 WDR93 56964 broad.mit.edu 37 15 90255262 90255262 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:90255262T>C uc002boj.2 + 5 668 c.567T>C c.(565-567)GAT>GAC p.D189D WDR93_uc010bnr.2_Silent_p.D189D NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 189 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TTCAGGATGATACCAGCAAGC 0.448 NA 10 54 0 0 0.001368 0 0 SV2B 9899 broad.mit.edu 37 15 91801761 91801761 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:91801761G>C uc002bqv.2 + 4 1286 c.895G>C c.(895-897)GAG>CAG p.E299Q SV2B_uc002bqt.2_Missense_Mutation_p.E299Q|SV2B_uc010uqv.1_Missense_Mutation_p.E148Q|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 299 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GTTCATGCCAGAGAGCCCAAG 0.552 NA 9 121 0 0 0.006214 0 0 OR4F6 390648 broad.mit.edu 37 15 102346129 102346129 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr15:102346129C>G uc010utr.1 + 1 207 c.207C>G c.(205-207)ATC>ATG p.I69M NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TTTCCATCATCAATTTGGTAT 0.463 NA 10 331 0 0 0.001368 0 0 RGS11 8786 broad.mit.edu 37 16 321090 321090 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:321090G>T uc002cgj.1 - 13 875 c.872C>A c.(871-873)GCC>GAC p.A291D RGS11_uc002cgi.1_Missense_Mutation_p.A270D|RGS11_uc010bqs.1_Missense_Mutation_p.A280D|RGS11_uc002cgk.1_Missense_Mutation_p.A107D NM_183337 NP_899180 O94810 RGS11_HUMAN regulator of G-protein signalling 11 isoform 1 291 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity lung(1)|pancreas(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CTTCGTGGGGGCAGCCACCCT 0.701 NA 4 19 0.00116845 0.00123451 0.001168 1 0 MSLN 10232 broad.mit.edu 37 16 814656 814656 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:814656C>G uc002cjw.1 + 6 361 c.310C>G c.(310-312)CTG>GTG p.L104V MSLN_uc002cjt.1_Missense_Mutation_p.L104V|MSLN_uc002cju.1_Missense_Mutation_p.L104V|MSLN_uc010brd.1_Missense_Mutation_p.L103V|MSLN_uc002cjv.1_Missense_Mutation_p.L104V|MSLN_uc002cjx.1_Missense_Mutation_p.L104V|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 104 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) GCTGCGCTGTCTGGCTCACCG 0.677 NA 27 267 0 0 0.009535 0 0 SOX8 30812 broad.mit.edu 37 16 1035263 1035263 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:1035263C>A uc002ckn.2 + 3 1333 c.1218C>A c.(1216-1218)CCC>CCA p.P406P NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 406 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) ACCAGTACCCCTGCTTCCACT 0.672 NA 27 31 1.06647e-15 1.44828e-15 0.003755 1 0 ABCA3 21 broad.mit.edu 37 16 2369608 2369608 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:2369608C>G uc002cpy.1 - 8 1559 c.847G>C c.(847-849)GTG>CTG p.V283L ABCA3_uc010bsk.1_Missense_Mutation_p.V283L|ABCA3_uc010bsl.1_Missense_Mutation_p.V283L NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 283 Helical; (Potential). response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) TTCTCCTGCACGACAGCACGG 0.612 NA 10 99 0 0 0.000978 0 0 PDPK1 5170 broad.mit.edu 37 16 2647754 2647754 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:2647754G>C uc002cqs.2 + 14 1801 c.1657G>C c.(1657-1659)GCC>CCC p.A553P PDPK1_uc002cqt.2_Missense_Mutation_p.A426P|PDPK1_uc010bsn.2_3'UTR|PDPK1_uc002cqu.2_Missense_Mutation_p.A526P NM_002613 NP_002604 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 553 actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|ovary(1) 3 Ovarian(90;0.17) Celecoxib(DB00482) CCACCCGGACGCCGCTGTGCA 0.657 NA 7 35 0 0 0.008291 0 0 NMRAL1 57407 broad.mit.edu 37 16 4511851 4511851 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:4511851C>G uc002cwm.2 - 6 986 c.830G>C c.(829-831)AGA>ACA p.R277T NMRAL1_uc002cwn.2_Missense_Mutation_p.R277T|NMRAL1_uc002cwo.2_Missense_Mutation_p.R277T|NMRAL1_uc002cwp.2_Missense_Mutation_p.R313T NM_020677 NP_065728 Q9HBL8 NMRL1_HUMAN NmrA-like family domain containing 1 277 nucleus|perinuclear region of cytoplasm binding kidney(1) 1 GGGGTTGAGTCTCAGGGTCAG 0.617 NA 24 166 0 0 0.009535 0 0 NMRAL1 57407 broad.mit.edu 37 16 4511958 4511958 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:4511958C>T uc002cwm.2 - 6 879 c.723G>A c.(721-723)ATG>ATA p.M241I NMRAL1_uc002cwn.2_Missense_Mutation_p.M241I|NMRAL1_uc002cwo.2_Missense_Mutation_p.M241I|NMRAL1_uc002cwp.2_Missense_Mutation_p.M277I NM_020677 NP_065728 Q9HBL8 NMRL1_HUMAN NmrA-like family domain containing 1 241 nucleus|perinuclear region of cytoplasm binding kidney(1) 1 CCTCAGGAGTCATCTGGAAGC 0.652 NA 17 106 0 0 0.007413 0 0 GLYR1 84656 broad.mit.edu 37 16 4882010 4882010 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:4882010C>T uc002cxx.3 - 5 544 c.507G>A c.(505-507)CGG>CGA p.R169R GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.R100R|GLYR1_uc002cya.2_Silent_p.R169R|GLYR1_uc010uxv.1_Intron NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 169 A.T hook. pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 GACCCCGCTTCCGGGGACTTT 0.498 NA 9 50 0 0 0.006214 0 0 USP7 7874 broad.mit.edu 37 16 8993541 8993541 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:8993541C>T uc002czl.2 - 22 2582 c.2383G>A c.(2383-2385)GAT>AAT p.D795N USP7_uc010uyk.1_Missense_Mutation_p.D696N|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D696N|USP7_uc002czk.2_Missense_Mutation_p.D779N NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 795 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 AAAATGACATCAACGCGGTGG 0.388 NA 14 98 0 0 0.001855 0 0 GRIN2A 2903 broad.mit.edu 37 16 9928037 9928037 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:9928037C>A uc002czo.3 - 8 2250 c.1702G>T c.(1702-1704)GTT>TTT p.V568F GRIN2A_uc010uym.1_Missense_Mutation_p.V568F|GRIN2A_uc010uyn.1_Missense_Mutation_p.V411F|GRIN2A_uc002czr.3_Missense_Mutation_p.V568F NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 568 Helical; (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) ATGGCAGAAACAATGAGCAGC 0.418 NA 16 103 8.00594e-06 8.95565e-06 0.007413 1 0 PDXDC1 23042 broad.mit.edu 37 16 15095657 15095657 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:15095657C>G uc002dda.3 + 4 410 c.186C>G c.(184-186)CTC>CTG p.L62L PDXDC1_uc010uzl.1_Silent_p.L47L|PDXDC1_uc010uzm.1_Intron|PDXDC1_uc010bvc.1_5'UTR|PDXDC1_uc002dcz.2_Silent_p.L62L|PDXDC1_uc002ddb.3_Intron|PDXDC1_uc010uzn.1_Intron|PDXDC1_uc002ddc.2_Silent_p.L62L NM_015027 NP_055842 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain 62 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) TGAGCATCCTCCAGTTAGTTC 0.498 NA 4 30 0 0 0.000602 0 0 MYH11 4629 broad.mit.edu 37 16 15829353 15829353 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:15829353C>A uc002ddy.2 - 26 3483 c.3376G>T c.(3376-3378)GAC>TAC p.D1126Y MYH11_uc002ddv.2_Missense_Mutation_p.D1133Y|MYH11_uc002ddw.2_Missense_Mutation_p.D1126Y|MYH11_uc002ddx.2_Missense_Mutation_p.D1133Y|MYH11_uc010bvg.2_Missense_Mutation_p.D958Y NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1126 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GAGTCCAGGTCCTCCTGGAGG 0.582 NA T CBFB AML 17 151 3.10358e-05 3.42242e-05 0.002299 1 0 DNAH3 55567 broad.mit.edu 37 16 21080738 21080738 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:21080738C>T uc010vbe.1 - 23 3379 c.3379G>A c.(3379-3381)GCG>ACG p.A1127T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1127 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AAACTTACCGCTTGGGACATA 0.393 NA 35 54 0 0 0.003214 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926860 22926860 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:22926860G>T uc002dli.2 + 2 1153 c.1081G>T c.(1081-1083)GGG>TGG p.G361W HS3ST2_uc002dlj.2_RNA NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN heparan sulfate D-glucosaminyl 361 Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(48;0.0299) TGAAACCGTTGGGCAGGACTT 0.448 NA 46 33 7.47603e-22 1.09323e-21 0.00361 1 0 ERN2 10595 broad.mit.edu 37 16 23713983 23713983 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:23713983C>T uc002dma.3 - 9 1208 c.1039G>A c.(1039-1041)GTC>ATC p.V347I ERN2_uc010bxp.2_Missense_Mutation_p.V347I|ERN2_uc010bxq.1_Missense_Mutation_p.V155I NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 299 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCTTTAGAGACATAGAAGCCA 0.488 NA 20 53 0 0 0.005443 0 0 LCMT1 51451 broad.mit.edu 37 16 25175934 25175934 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:25175934G>C uc002dnx.1 + 7 743 c.585G>C c.(583-585)CTG>CTC p.L195L LCMT1_uc002dny.1_Silent_p.L140L|LCMT1_uc002dnz.1_Silent_p.L95L|LCMT1_uc002doa.1_Silent_p.L40L NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 isoform a 195 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity 0 GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) CAACACTCCTGATAGCTGAAT 0.428 Colon(200;565 2072 24396 47922 50898) NA 8 30 0 0 0.006214 0 0 IL4R 3566 broad.mit.edu 37 16 27370278 27370278 + Missense_Mutation SNP G G T rs55988941 byFrequency TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:27370278G>T uc002don.2 + 9 1054 c.812G>T c.(811-813)CGC>CTC p.R271L IL4R_uc002dop.3_Missense_Mutation_p.R256L|IL4R_uc010bxy.2_Missense_Mutation_p.R271L|IL4R_uc002doo.2_Missense_Mutation_p.R111L NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 271 Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 AACCCAGCCCGCAGCCGCCTC 0.478 NA 16 44 2.48551e-13 3.24854e-13 0.00499 1 0 IL21R 50615 broad.mit.edu 37 16 27454428 27454428 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:27454428C>A uc002doq.1 + 5 731 c.498C>A c.(496-498)CCC>CCA p.P166P IL21R_uc002dor.1_Silent_p.P166P|IL21R_uc002dos.1_Silent_p.P166P NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 166 Extracellular (Potential).|Fibronectin type-III. natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 GGGGAGACCCCTGGGCTGTGG 0.557 NA T BCL6 NHL 13 31 0.000308642 0.000332713 0.003163 1 0 IL27 246778 broad.mit.edu 37 16 28515207 28515207 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:28515207G>T uc002dqc.2 - 2 219 c.196C>A c.(196-198)CAC>AAC p.H66N uc010vct.1_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN interleukin 27 precursor 66 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding 0 ACAAAGCGGTGGGCCTGGCCC 0.657 NA 22 54 1.17739e-12 1.51917e-12 0.005443 1 0 RUNDC2C 440352 broad.mit.edu 37 16 29376190 29376190 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:29376190G>A uc002dsj.1 + 5 929 c.532G>A c.(532-534)GGG>AGG p.G178R uc010vct.1_Intron|RUNDC2C_uc010bys.1_RNA|RUNDC2C_uc010vdo.1_Missense_Mutation_p.G159R NM_001012391 NP_001012391 RecName: Full=RUN domain-containing protein 2A; 0 AAGCCCCTTCGGGCCAAACTC 0.498 NA 13 71 0 0 0.007413 0 0 ZNF646 9726 broad.mit.edu 37 16 31090321 31090321 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:31090321G>C uc002eap.2 + 2 2965 c.2676G>C c.(2674-2676)GGG>GGC p.G892G NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 892 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 TCTTCCCTGGGCGGGCTGGCT 0.652 NA 19 53 0 0 0.001882 0 0 ITGAD 3681 broad.mit.edu 37 16 31434720 31434720 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:31434720G>T uc002ebv.1 + 25 2956 c.2907G>T c.(2905-2907)TGG>TGT p.W969C ITGAD_uc010cap.1_Missense_Mutation_p.W970C NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 969 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TTAACTTCTGGGTTCCTGTCC 0.537 NA 41 74 3.16986e-14 4.20841e-14 0.00361 1 0 ABCC12 94160 broad.mit.edu 37 16 48134857 48134857 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:48134857G>A uc002efc.1 - 21 3310 c.2964C>T c.(2962-2964)TTC>TTT p.F988F ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 988 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TGATGTGGGTGAACCAGGGTG 0.572 NA 6 44 0 0 0.006214 0 0 CBLN1 869 broad.mit.edu 37 16 49313338 49313338 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:49313338C>G uc002efq.2 - 3 898 c.559G>C c.(559-561)GGA>CGA p.G187R NM_004352 NP_004343 P23435 CBLN1_HUMAN cerebellin 1 precursor 187 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). nervous system development|synaptic transmission cell junction|extracellular region|synapse 0 all_cancers(37;0.0766)|all_lung(18;0.24) ACCAGGAATCCGGAGAAGGTC 0.567 NA 10 100 0 0 0.001368 0 0 CYLD 1540 broad.mit.edu 37 16 50813605 50813606 + Missense_Mutation DNP GA GA TT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:50813605_50813606GA>TT uc002egp.1 + 9 1583_1584 c.1168_1169GA>TT c.(1168-1170)GAG>TTG p.E390L CYLD_uc002ego.2_Missense_Mutation_p.E387L|CYLD_uc010cbs.1_Missense_Mutation_p.E387L|CYLD_uc002egq.1_Missense_Mutation_p.E387L|CYLD_uc002egr.1_Missense_Mutation_p.E387L|CYLD_uc002egs.1_Missense_Mutation_p.E387L NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 390 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) ATCTCTTACAGAGATATCTACA 0.386 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 21 163 0 0 0.004672 0 0 MMP2 4313 broad.mit.edu 37 16 55519646 55519646 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:55519646C>A uc002ehz.3 + 5 1100 c.789C>A c.(787-789)TAC>TAA p.Y263* MMP2_uc010vhd.1_Nonsense_Mutation_p.Y187*|MMP2_uc010ccc.2_Nonsense_Mutation_p.Y213* NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 263 Fibronectin type-II 1.|Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CCACCACCTACAACTTTGAGA 0.562 NA 15 134 4.96729e-08 5.83469e-08 0.008871 1 0 GNAO1 2775 broad.mit.edu 37 16 56226490 56226490 + Silent SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:56226490T>A uc002eit.3 + 2 1020 c.123T>A c.(121-123)GCT>GCA p.A41A GNAO1_uc002eiu.3_Silent_p.A41A|LOC283856_uc002eis.1_5'Flank NM_138736 NP_620073 P09471 GNAO_HUMAN guanine nucleotide binding protein, alpha 41 GTP (By similarity). dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity lung(1)|breast(1) 2 all_neural(199;0.159) CAACAGGGGCTGGAGAATCAG 0.478 NA 21 134 0 0 0.00632 0 0 GPR114 221188 broad.mit.edu 37 16 57597831 57597831 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:57597831G>T uc002elx.3 + 5 454 c.369G>T c.(367-369)AAG>AAT p.K123N GPR114_uc010vhr.1_Missense_Mutation_p.K123N|GPR114_uc002ely.2_Missense_Mutation_p.K123N NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 123 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 ACGCCTGCAAGACCCGCCCCA 0.647 NA 7 81 2.17888e-05 2.40535e-05 0.006214 1 0 CNOT1 23019 broad.mit.edu 37 16 58559111 58559111 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:58559111C>G uc002env.2 - 46 7049 c.6756G>C c.(6754-6756)CAG>CAC p.Q2252H CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.Q2247H|CNOT1_uc002ent.2_Missense_Mutation_p.Q190H|CNOT1_uc010vik.1_Missense_Mutation_p.Q1209H NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2252 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CAGCCAAATTCTGGAAGATAT 0.478 NA 17 134 0 0 0.001882 0 0 CNOT1 23019 broad.mit.edu 37 16 58564242 58564242 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:58564242T>C uc002env.2 - 43 6480 c.6187A>G c.(6187-6189)ATG>GTG p.M2063V CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.M2058V|CNOT1_uc002ent.2_Missense_Mutation_p.M1V|CNOT1_uc010vik.1_Missense_Mutation_p.M1020V NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2063 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGTGCATACATAGGCCACCCC 0.388 NA 11 60 0 0 0.000978 0 0 LRRC36 55282 broad.mit.edu 37 16 67401279 67401279 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:67401279G>A uc002esv.2 + 8 1133 c.1114G>A c.(1114-1116)GCT>ACT p.A372T LRRC36_uc002esw.2_Intron|LRRC36_uc010ceh.2_Intron|LRRC36_uc002esx.2_Missense_Mutation_p.A251T|LRRC36_uc010vjk.1_Missense_Mutation_p.A251T|LRRC36_uc010vjl.1_Intron|LRRC36_uc002esy.2_Intron NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 isoform 1 372 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) AAAGACCACCGCTTCACATTC 0.433 NA 31 175 0 0 0.004878 0 0 FAM65A 79567 broad.mit.edu 37 16 67576587 67576587 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:67576587C>A uc010vjp.1 + 13 2054 c.1958C>A c.(1957-1959)ACC>AAC p.T653N FAM65A_uc010cei.1_Missense_Mutation_p.T475N|FAM65A_uc002eth.2_Missense_Mutation_p.T633N|FAM65A_uc010cej.2_Missense_Mutation_p.T636N|FAM65A_uc002eti.1_Missense_Mutation_p.T596N|FAM65A_uc010vjq.1_Missense_Mutation_p.T647N|FAM65A_uc002etj.1_Missense_Mutation_p.T632N|FAM65A_uc002etk.2_Missense_Mutation_p.T632N NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 637 Pro-rich. cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) ACCCACAAAACCAGTATGTCA 0.582 NA 69 122 3.12118e-38 4.93617e-38 0.00361 1 0 PKD1L2 114780 broad.mit.edu 37 16 81185474 81185474 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:81185474T>C uc002fgh.1 - 27 4451 c.4451A>G c.(4450-4452)AAG>AGG p.K1484R PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1484 Cytoplasmic (Potential).|PLAT. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GAAATACCACTTCCGGTCCAT 0.527 NA 4 35 0 0 0.009096 0 0 PKD1L2 114780 broad.mit.edu 37 16 81194295 81194295 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:81194295C>T uc002fgh.1 - 22 3693 c.3693G>A c.(3691-3693)GTG>GTA p.V1231V PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1231 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TACCTGGAGCCACCATTGGTA 0.517 NA 5 20 0 0 0.00308 0 0 KCNG4 93107 broad.mit.edu 37 16 84270421 84270421 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:84270421G>C uc010voc.1 - 2 792 c.671C>G c.(670-672)GCT>GGT p.A224G KCNG4_uc002fhu.1_Missense_Mutation_p.A224G NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 224 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 GGAGAGGCAAGCGAAGACCTT 0.682 NA 15 63 0 0 0.008871 0 0 COX4I1 1327 broad.mit.edu 37 16 85838698 85838698 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:85838698G>T uc002fje.2 + 3 393 c.229G>T c.(229-231)GAG>TAG p.E77* COX4I1_uc002fjf.2_Nonsense_Mutation_p.E77*|COX4I1_uc002fjg.1_Nonsense_Mutation_p.E77*|COX4I1_uc010vom.1_5'UTR NM_001861 NP_001852 P13073 COX41_HUMAN cytochrome c oxidase subunit IV isoform 1 77 respiratory electron transport chain mitochondrial inner membrane|nucleus cytochrome-c oxidase activity|protein binding lung(1) 1 Renal(780;0.228) CTCCATGGATGAGAAAGTCGA 0.602 NA 4 31 0.00909568 0.00941286 0.009096 1 0 IRF8 3394 broad.mit.edu 37 16 85936643 85936643 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:85936643C>A uc002fjh.2 + 2 79 c.22C>A c.(22-24)CGG>AGG p.R8R IRF8_uc002fji.2_Silent_p.R8R NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 8 IRF tryptophan pentad repeat. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) GAATGGTGGTCGGCGGCTTCG 0.478 NA 59 160 3.12118e-38 4.93617e-38 0.00361 1 0 ANKRD11 29123 broad.mit.edu 37 16 89352509 89352509 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:89352509G>A uc002fmx.1 - 8 1291 c.830C>T c.(829-831)CCC>CTC p.P277L ANKRD11_uc002fmy.1_Missense_Mutation_p.P277L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P277L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P234L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 277 ANK 4. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CACCATCGTGGGGGAGTTGGC 0.577 NA 48 121 0 0 0.00361 0 0 NXN 64359 broad.mit.edu 37 17 725687 725687 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:725687C>A uc002fsa.2 - 4 715 c.623G>T c.(622-624)TGC>TTC p.C208F NXN_uc002fsb.1_Missense_Mutation_p.C95F|NXN_uc010vqd.1_5'UTR|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.C100F NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN nucleoredoxin 208 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity ovary(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GAGGCTTCGGCAGGGCGGACA 0.592 NA 70 8 9.25274e-37 1.45875e-36 0.00361 1 0 OR3A4 390756 broad.mit.edu 37 17 3213766 3213766 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:3213766G>T uc002fvi.2 + 1 228 c.162G>T c.(160-162)ATG>ATT p.M54I NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 CCATCCTTATGGAAACCAAAC 0.542 NA 74 28 7.68447e-34 1.1984e-33 0.00361 1 0 NLRP1 22861 broad.mit.edu 37 17 5462625 5462625 + Missense_Mutation SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:5462625T>G uc002gci.2 - 4 1946 c.1391A>C c.(1390-1392)CAG>CCG p.Q464P NLRP1_uc002gcg.1_Missense_Mutation_p.Q464P|NLRP1_uc002gck.2_Missense_Mutation_p.Q464P|NLRP1_uc002gcj.2_Missense_Mutation_p.Q464P|NLRP1_uc002gcl.2_Missense_Mutation_p.Q464P|NLRP1_uc002gch.3_Missense_Mutation_p.Q464P|NLRP1_uc010clh.2_Missense_Mutation_p.Q464P NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 464 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) AATGAGGTTCTGCAGAGCTGT 0.537 NA 14 8 0 0 0.001855 0 0 BCL6B 255877 broad.mit.edu 37 17 6930310 6930310 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:6930310G>A uc002geg.2 + 8 1284 c.1227G>A c.(1225-1227)GAG>GAA p.E409E BCL6B_uc010clt.1_Silent_p.E410E NM_181844 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B (zinc finger 409 nucleus zinc ion binding skin(1) 1 ACACCGGGGAGAAGCCCTACC 0.632 NA 27 54 0 0 0.008361 0 0 PHF23 79142 broad.mit.edu 37 17 7139465 7139465 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:7139465C>T uc002gfa.2 - 4 1008 c.781G>A c.(781-783)GAG>AAG p.E261K DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.E194K|PHF23_uc010cma.2_Missense_Mutation_p.E131K NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN PHD finger protein 23 261 Poly-Glu. zinc ion binding 0 GTTGCCATCtcttcttcttct 0.522 NA 14 64 0 0 0.00245 0 0 AMAC1L3 643664 broad.mit.edu 37 17 7385378 7385378 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:7385378C>A uc010cmj.1 + 2 190 c.75C>A c.(73-75)CTC>CTA p.L25L ZBTB4_uc002ghc.3_5'Flank|ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank NM_001102614 NP_001096084 P0C7Q6 AMCL3_HUMAN acyl-malonyl condensing enzyme 1-like 3 25 integral to membrane 0 Prostate(122;0.173) CACCCAGCCTCCGCTGGCACC 0.667 NA 13 66 1.62849e-17 2.26641e-17 0.004007 1 0 TP53 7157 broad.mit.edu 37 17 7578448 7578448 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:7578448G>A uc002gim.2 - 5 676 c.482C>T c.(481-483)GCC>GTC p.A161V TP53_uc002gig.1_Missense_Mutation_p.A161V|TP53_uc002gih.2_Missense_Mutation_p.A161V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A29V|TP53_uc010cng.1_Missense_Mutation_p.A29V|TP53_uc002gii.1_Missense_Mutation_p.A29V|TP53_uc010cnh.1_Missense_Mutation_p.A161V|TP53_uc010cni.1_Missense_Mutation_p.A161V|TP53_uc002gij.2_Missense_Mutation_p.A161V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A68V|TP53_uc002gio.2_Missense_Mutation_p.A29V|TP53_uc010vug.1_Missense_Mutation_p.A122V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 161 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (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.A161T(44)|p.A161D(8)|p.0?(7)|p.A161V(7)|p.A161A(5)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S149fs*72(1)|p.V157_I162delVRAMAI(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.A161S(1)|p.A161P(1)|p.I162fs*8(1)|p.A161F(1)|p.A161G(1)|p.R158fs*8(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) CTTGTAGATGGCCATGGCGCG 0.627 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) 35 35 0 0 0.00361 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C C A rs55863639 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 125 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (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.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537 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) 41 34 4.78724e-31 7.3521e-31 0.00361 1 0 KCNAB3 9196 broad.mit.edu 37 17 7831100 7831100 + Splice_Site SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:7831100C>G uc002gjm.1 - 2 286 c.286_splice c.e2+1 p.G96_splice KCNAB3_uc010vul.1_Splice_Site NM_004732 NP_004723 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(1) 1 Prostate(122;0.157) TTCTGACTCACCTAGGCCAAG 0.522 NA 24 150 0 0 0.00632 0 0 MYH8 4626 broad.mit.edu 37 17 10298475 10298475 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:10298475T>C uc002gmm.2 - 34 5032 c.4937A>G c.(4936-4938)TAC>TGC p.Y1646C uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1646 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GGTGTTCCTGTAGTTCCTTAA 0.458 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 6 106 0 0 0.00308 0 0 PIGL 9487 broad.mit.edu 37 17 16220021 16220021 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:16220021C>T uc002gpv.2 + 5 553 c.521C>T c.(520-522)CCT>CTT p.P174L PIGL_uc010vwd.1_Missense_Mutation_p.P174L NM_004278 NP_004269 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, 174 Cytoplasmic (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) GGGAAGTTACCTAAAGGTAAG 0.493 NA 26 54 0 0 0.003271 0 0 EVPLL 645027 broad.mit.edu 37 17 18286156 18286157 + Nonsense_Mutation DNP GG GG CT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:18286156_18286157GG>CT uc002gte.2 + 6 744_745 c.489_490GG>CT c.(487-492)CCGGAG>CCCTAG p.E164* NM_001145127 NP_001138599 A8MZ36 EVPLL_HUMAN envoplakin-like 164 0 GCCACCATCCGGAGCCAATACC 0.678 NA 6 32 0 0 0.004672 0 0 FAM83G 644815 broad.mit.edu 37 17 18882139 18882139 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:18882139C>A uc002guw.2 - 5 1007 c.840G>T c.(838-840)ACG>ACT p.T280T SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 280 ovary(1)|central_nervous_system(1) 2 CATTCCGGTCCGTCCGCGCGG 0.637 NA 16 87 2.94398e-08 3.49468e-08 0.007413 1 0 MAP2K3 5606 broad.mit.edu 37 17 21201792 21201792 + Splice_Site SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:21201792G>C uc002gys.2 + 2 381 c.116_splice c.e2+1 p.T39_splice MAP2K3_uc002gyt.2_Splice_Site_p.T10_splice|MAP2K3_uc002gyu.2_Splice_Site_p.T10_splice NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CCAACCCCACGTGAGTCTGCC 0.577 NA 11 309 0 0 0.00245 0 0 Unknown 0 broad.mit.edu 37 17 21730858 21730858 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:21730858C>T uc002gyy.3 + 2 285 c.160C>T c.(160-162)CGC>TGC p.R54C SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA GGAAGATGGCCGCAGTCTTTC 0.517 NA 6 55 0 0 0.001984 0 0 NOS2 4843 broad.mit.edu 37 17 26125764 26125764 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:26125764G>A uc002gzu.2 - 2 336 c.72C>T c.(70-72)ATC>ATT p.I24I NOS2_uc010crh.1_Silent_p.I24I|NOS2_uc010wab.1_Silent_p.I24I NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 24 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CATTGTTGTTGATGTCTTTTT 0.507 NA 9 65 0 0 0.001368 0 0 SARM1 23098 broad.mit.edu 37 17 26699056 26699056 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:26699056G>T uc010crl.1 + 1 70 c.3G>T c.(1-3)ATG>ATT p.M1I SARM1_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|VTN_uc002hbc.2_5'Flank NM_015077 NP_055892 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 1 innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CCGCGCCCATGGTCCTGACGC 0.716 NA 4 2 1.23904e-05 1.37686e-05 0.000602 1 0 NEK8 284086 broad.mit.edu 37 17 27061141 27061141 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:27061141T>C uc002hcp.2 + 2 188 c.188T>C c.(187-189)GTC>GCC p.V63A NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 63 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) CACCCCAATGTCATTGAGTAC 0.542 NSCLC(6;19 293 14866 25253 49845) NA 71 75 0 0 0.00361 0 0 EVI2B 2124 broad.mit.edu 37 17 29632234 29632234 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:29632234G>T uc002hgk.2 - 2 549 c.394C>A c.(394-396)CGT>AGT p.R132S NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.R147S NM_006495 NP_006486 P34910 EVI2B_HUMAN ecotropic viral integration site 2B precursor 132 Extracellular (Potential). cytoplasm|integral to plasma membrane ovary(2) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) GTAGAAGTACGGGCAGATGGT 0.443 NA 50 262 1.88225e-35 2.94906e-35 0.00361 1 0 RHBDL3 162494 broad.mit.edu 37 17 30648077 30648077 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:30648077C>A uc002hhe.1 + 9 1058 c.1044C>A c.(1042-1044)GCC>GCA p.A348A RHBDL3_uc010csw.1_Silent_p.A340A|RHBDL3_uc010csx.1_Missense_Mutation_p.R315S|RHBDL3_uc010csy.1_Silent_p.A250A|RHBDL3_uc002hhf.1_Silent_p.A250A NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 348 Helical; (Potential). proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) GTGGCGTGGCCGTGGGCATCA 0.637 NA 47 50 1.4374e-25 2.15503e-25 0.00361 1 0 CCL11 6356 broad.mit.edu 37 17 32614165 32614165 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:32614165C>G uc002hia.1 + 2 268 c.127C>G c.(127-129)CTT>GTT p.L43V NM_002986 NP_002977 P51671 CCL11_HUMAN small inducible cytokine A11 precursor 43 cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction extracellular space chemokine activity 0 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) GAAGATACCCCTTCAGCGACT 0.428 NA 18 76 0 0 0.00278 0 0 CCT6B 10693 broad.mit.edu 37 17 33259506 33259506 + Silent SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:33259506A>T uc002hig.2 - 11 1321 c.1227T>A c.(1225-1227)CCT>CCA p.P409P CCT6B_uc010ctg.2_Silent_p.P372P|CCT6B_uc010wcc.1_Silent_p.P364P NM_006584 NP_006575 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B 409 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding pancreas(1) 1 Ovarian(249;0.17) CACCAGCTCCAGGAACCATAC 0.398 NA 31 142 0 0 0.004878 0 0 UNC45B 146862 broad.mit.edu 37 17 33504092 33504092 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:33504092C>A uc002hja.2 + 16 2185 c.2088C>A c.(2086-2088)CAC>CAA p.H696Q UNC45B_uc002hjb.2_Missense_Mutation_p.H694Q|UNC45B_uc002hjc.2_Missense_Mutation_p.H694Q|UNC45B_uc010cto.2_Missense_Mutation_p.H615Q NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 696 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) AGGCAGCCCACGCTCTAGCAA 0.567 NA 58 61 7.14007e-55 1.16199e-54 0.00361 1 0 LYZL6 57151 broad.mit.edu 37 17 34264792 34264792 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:34264792A>G uc002hkj.1 - 2 418 c.268T>C c.(268-270)TCG>CCG p.S90P LYZL6_uc002hkk.1_Missense_Mutation_p.S90P NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 90 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGTTTTCCGAGTAACTCTTA 0.483 NA 5 91 0 0 0.001168 0 0 GGNBP2 79893 broad.mit.edu 37 17 34935751 34935751 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:34935751G>A uc002hnb.2 + 8 1171 c.922G>A c.(922-924)GAA>AAA p.E308K GGNBP2_uc002hna.2_Missense_Mutation_p.E308K|GGNBP2_uc002hnc.1_Missense_Mutation_p.E137K NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 308 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TCATCTTTATGAAAGACTGCA 0.423 NA 28 145 0 0 0.009535 0 0 TBC1D3 729873 broad.mit.edu 37 17 36288223 36288223 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:36288223C>G uc002hoo.2 + 6 466 c.309C>G c.(307-309)CCC>CCG p.P103P TBC1D3_uc002hop.2_RNA|TBC1D3_uc010wdj.1_Silent_p.P23P|TBC1D3_uc010cvf.1_Silent_p.P103P|TBC1D3_uc002hoq.2_Silent_p.P103P|TBC1D3_uc010wdk.1_Silent_p.P164P|uc002hpl.2_5'Flank|uc002hor.2_5'Flank NM_032258 NP_115634 Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3F 103 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGGAATGCCCATGAACATCC 0.567 NA 59 547 0 0 0.00361 0 0 CACNB1 782 broad.mit.edu 37 17 37340312 37340312 + Silent SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:37340312A>T uc002hrm.1 - 10 1023 c.870T>A c.(868-870)ATT>ATA p.I290I CACNB1_uc002hrl.1_Silent_p.I62I|CACNB1_uc002hrn.2_Silent_p.I290I|CACNB1_uc002hro.2_Silent_p.I335I NM_000723 NP_000714 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 290 axon guidance voltage-gated calcium channel complex large_intestine(1)|ovary(1) 2 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) TGGAGCGCTCAATGATGATGT 0.488 Esophageal Squamous(5;100 366 38393 41452 45827) NA 19 65 0 0 0.00278 0 0 PSMD3 5709 broad.mit.edu 37 17 38140601 38140601 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:38140601G>A uc002htn.1 + 2 439 c.275G>A c.(274-276)AGA>AAA p.R92K PSMD3_uc010wen.1_Intron|PSMD3_uc010weo.1_Splice_Site NM_002809 NP_002800 O43242 PSMD3_HUMAN proteasome 26S non-ATPase subunit 3 92 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding ovary(1)|pancreas(1) 2 Colorectal(19;0.000442) AAGGAGCCGAGATTCGTGCTG 0.502 Ovarian(186;531 2051 6385 19668 48409) NA 9 60 0 0 0.008291 0 0 SMARCE1 6605 broad.mit.edu 37 17 38785088 38785088 + Silent SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:38785088T>G uc002hux.2 - 11 1309 c.1185A>C c.(1183-1185)ACA>ACC p.T395T SMARCE1_uc010wff.1_3'UTR|SMARCE1_uc010wfg.1_3'UTR|SMARCE1_uc002huy.2_Silent_p.T360T|SMARCE1_uc010wfh.1_Silent_p.T325T|SMARCE1_uc010wfi.1_Silent_p.T377T NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated 395 Glu-rich. chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) GCTCCTCCACTGTTGCACTGT 0.453 NA 53 81 0 0 0.00361 0 0 KRT25 147183 broad.mit.edu 37 17 38907322 38907322 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:38907322G>T uc002hve.2 - 5 902 c.841C>A c.(841-843)CTG>ATG p.L281M NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 281 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) TGCTGCTGCAGGGAGGCGCTC 0.483 NA 11 62 1.3612e-06 1.55017e-06 0.003163 1 0 KRT36 8689 broad.mit.edu 37 17 39642635 39642635 + Missense_Mutation SNP G G T rs148487920 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:39642635G>T uc002hwt.2 - 7 1397 c.1397C>A c.(1396-1398)CCG>CAG p.P466Q NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 466 Tail. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) CTGTCACAGCGGGCGGGACTG 0.637 NA 7 48 8.12818e-05 8.86631e-05 0.001984 1 0 KRT36 8689 broad.mit.edu 37 17 39645719 39645719 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:39645719A>G uc002hwt.2 - 1 398 c.398T>C c.(397-399)ATC>ACC p.I133T NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 133 Rod.|Linker 1. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) GATGTATGGGATCTGAAACTC 0.582 NA 101 102 0 0 0.00361 0 0 FMNL1 752 broad.mit.edu 37 17 43322352 43322352 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:43322352G>C uc002iin.2 + 21 2805 c.2605G>C c.(2605-2607)GAG>CAG p.E869Q FMNL1_uc002iiq.2_Missense_Mutation_p.E447Q|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 869 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 GCAGCTGTTGGAGATGAAGTC 0.607 GBM(164;1247 1997 8702 11086 51972) NA 16 79 0 0 0.006122 0 0 TBX21 30009 broad.mit.edu 37 17 45822276 45822276 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:45822276T>C uc002ilv.1 + 6 1363 c.1152T>C c.(1150-1152)GCT>GCC p.A384A NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 384 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 TTCCCCAGGCTTACTGGCTGG 0.617 NA 16 104 0 0 0.006122 0 0 HOXB9 3219 broad.mit.edu 37 17 46700309 46700309 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:46700309G>T uc002inx.2 - 2 910 c.706C>A c.(706-708)CGG>AGG p.R236R NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 236 Homeobox. canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TTCATCCGCCGGTTCTGAAAC 0.463 NA 11 74 1.61879e-10 2.01649e-10 0.001368 1 0 CA10 56934 broad.mit.edu 37 17 50235144 50235144 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:50235144C>T uc002itw.3 - 1 989 c.3G>A c.(1-3)ATG>ATA p.M1I CA10_uc002itv.3_5'UTR|CA10_uc002itx.3_Missense_Mutation_p.M1I|CA10_uc002ity.3_Missense_Mutation_p.M1I|CA10_uc002itz.2_Missense_Mutation_p.M1I NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 1 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) AGACTATTTCCATCCTCTGAT 0.517 NA 21 105 0 0 0.00278 0 0 KIF2B 84643 broad.mit.edu 37 17 51901177 51901177 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:51901177C>A uc002iua.2 + 1 939 c.783C>A c.(781-783)AAC>AAA p.N261K uc010wna.1_Intron NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 261 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ACCTGCAGAACCAGACCTTCT 0.542 NA 22 46 4.26978e-12 5.46727e-12 0.00333 1 0 TEX14 56155 broad.mit.edu 37 17 56679300 56679300 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:56679300C>T uc010dcz.1 - 13 1681 c.1563G>A c.(1561-1563)CAG>CAA p.Q521Q TEX14_uc002iwr.1_Silent_p.Q515Q|TEX14_uc002iws.1_Silent_p.Q515Q|TEX14_uc010dda.1_Silent_p.Q295Q NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 521 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTTGAGTTCTCTGGGCTCCAG 0.468 NA 7 59 0 0 0.006214 0 0 LOC653653 653653 broad.mit.edu 37 17 58179857 58179857 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:58179857A>T uc010wot.1 - 1 424 c.308T>A c.(307-309)ATT>AAT p.I103N NM_003916 NP_003907 adaptor-related protein complex 1 sigma 2 0 TTTGTAAACAATCTTCAGATC 0.348 NA 22 110 0 0 0.00278 0 0 USP32 84669 broad.mit.edu 37 17 58303470 58303470 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:58303470C>T uc002iyo.1 - 13 1648 c.1362G>A c.(1360-1362)GTG>GTA p.V454V USP32_uc002iyn.1_Silent_p.V124V NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 454 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity p.V454L(1) lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CTGTAGTATTCACGTAACTGA 0.428 NA 21 99 0 0 0.00333 0 0 ABCA9 10350 broad.mit.edu 37 17 67023491 67023491 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:67023491C>T uc002jhu.2 - 14 2034 c.1891G>A c.(1891-1893)GCC>ACC p.A631T ABCA9_uc010dez.2_Missense_Mutation_p.A631T NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 631 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CCTAAAATGGCAATCCCAAAA 0.313 NA 7 10 0 0 0.008291 0 0 ABCA6 23460 broad.mit.edu 37 17 67114099 67114099 + Splice_Site SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:67114099T>A uc002jhw.1 - 11 1612 c.1437_splice c.e11-1 p.R479_splice ABCA6_uc002jhx.1_5'UTR NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) TTTCTGATTCTGAAATAACAA 0.338 NA 16 26 0 0 0.008871 0 0 CD300E 342510 broad.mit.edu 37 17 72613365 72613365 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:72613365G>C uc002jlb.1 - 2 321 c.280C>G c.(280-282)CTC>GTC p.L94V NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 94 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCTTCATTGAGGTTCTGCATG 0.537 NA 52 87 0 0 0.00361 0 0 CD300LF 146722 broad.mit.edu 37 17 72694570 72694570 + Nonsense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:72694570A>T uc002jlg.2 - 4 600 c.497T>A c.(496-498)TTG>TAG p.L166* RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Nonsense_Mutation_p.L169*|CD300LF_uc010dfw.2_Intron|CD300LF_uc002jlh.2_Silent_p.I181I|CD300LF_uc002jli.2_Intron|CD300LF_uc010wra.1_Nonsense_Mutation_p.L181*|CD300LF_uc002jlj.1_Nonsense_Mutation_p.L184* NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN NK inhibitory receptor precursor 166 Helical; (Potential). integral to membrane|plasma membrane receptor activity upper_aerodigestive_tract(1) 1 AAGCAGCAGCAATATGGTGAA 0.582 NA 4 35 0 0 0.000602 0 0 USH1G 124590 broad.mit.edu 37 17 72919127 72919127 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:72919127C>A uc002jme.1 - 1 225 c.42G>T c.(40-42)CTG>CTT p.L14L USH1G_uc010wro.1_5'UTR|OTOP2_uc002jmf.1_5'Flank|OTOP2_uc010wrp.1_5'Flank NM_173477 NP_775748 Q495M9 USH1G_HUMAN Usher syndrome 1G protein 14 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton skin(2) 2 all_lung(278;0.172)|Lung NSC(278;0.207) TGAGGAGCTCCAGGTAGCCAT 0.687 NA 5 2 2.7689e-08 3.30238e-08 0.001984 1 0 OTOP2 92736 broad.mit.edu 37 17 72926928 72926928 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:72926928G>A uc010wrp.1 + 7 1287 c.1198G>A c.(1198-1200)GCA>ACA p.A400T NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 400 integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) GGACCTGCTGGCAGGGCTCAA 0.622 NA 21 71 0 0 0.001882 0 0 GRB2 2885 broad.mit.edu 37 17 73317755 73317755 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:73317755T>C uc002jnx.3 - 5 810 c.453A>G c.(451-453)ATA>ATG p.I151M GRB2_uc002jny.3_Missense_Mutation_p.I110M NM_002086 NP_002077 P62993 GRB2_HUMAN growth factor receptor-bound protein 2 isoform 151 SH2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity ovary(3) 3 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) GCACCTGTTCTATGTCCCGCA 0.478 NA 19 78 0 0 0.003954 0 0 QRICH2 84074 broad.mit.edu 37 17 74271963 74271963 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:74271963T>C uc002jrd.1 - 18 5101 c.4921A>G c.(4921-4923)AGC>GGC p.S1641G QRICH2_uc010wsz.1_Missense_Mutation_p.Q1333R|QRICH2_uc010dgw.1_Missense_Mutation_p.S485G NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1641 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 CCATTGCTGCTGAGGGATGGC 0.667 NA 24 50 0 0 0.00632 0 0 MGAT5B 146664 broad.mit.edu 37 17 74922712 74922712 + Silent SNP G G A rs144217759 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:74922712G>A uc002jti.2 + 9 1327 c.1224G>A c.(1222-1224)ACG>ACA p.T408T MGAT5B_uc002jth.2_Silent_p.T397T NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 397 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 CCTTCGGGACGGAACCTGCGT 0.622 NA 16 49 0 0 0.004007 0 0 HGS 9146 broad.mit.edu 37 17 79662894 79662894 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:79662894G>A uc002kbg.2 + 15 1335 c.1258G>A c.(1258-1260)GTG>ATG p.V420M NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 420 Interaction with SNX1 (By similarity). cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CACCACCTTCGTGAACCGCAT 0.602 NA 16 54 0 0 0.004007 0 0 CETN1 1068 broad.mit.edu 37 18 580575 580575 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:580575C>A uc002kko.1 + 1 209 c.167C>A c.(166-168)GCC>GAC p.A56D NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 56 EF-hand 1. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 CTGAAGGTGGCCATGAGAGCG 0.552 NA 54 50 1.85204e-48 2.9804e-48 0.00361 1 0 CLUL1 27098 broad.mit.edu 37 18 633426 633426 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:633426C>T uc002kkp.2 + 6 1130 c.985C>T c.(985-987)CTA>TTA p.L329L CLUL1_uc010wys.1_Silent_p.L381L|CLUL1_uc002kkq.2_Silent_p.L329L NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 329 cell death extracellular region ovary(2) 2 TCAGGCTCACCTATCTGAAGG 0.299 NA 13 54 0 0 0.00499 0 0 NDC80 10403 broad.mit.edu 37 18 2577750 2577750 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:2577750G>A uc002kli.2 + 4 367 c.185G>A c.(184-186)AGT>AAT p.S62N NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 62 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 TCCAGAACTAGTGGACATGGA 0.353 NA 21 118 0 0 0.003954 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891450 2891450 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:2891450C>T uc002kln.2 + 4 1484 c.1325C>T c.(1324-1326)CCA>CTA p.P442L NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 442 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) GTTCCAGAGCCAGATGTGGAT 0.433 NA 44 109 0 0 0.003214 0 0 EPB41L3 23136 broad.mit.edu 37 18 5394744 5394744 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:5394744A>T uc002kmt.1 - 22 3288 c.3202T>A c.(3202-3204)TCA>ACA p.S1068T EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.S846T|EPB41L3_uc010dkq.1_Missense_Mutation_p.S737T|EPB41L3_uc002kms.1_Missense_Mutation_p.S303T|EPB41L3_uc010wze.1_Missense_Mutation_p.S373T|EPB41L3_uc010wzf.1_Missense_Mutation_p.S365T|EPB41L3_uc010wzg.1_Missense_Mutation_p.S340T|EPB41L3_uc010dkr.2_Missense_Mutation_p.S460T NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1068 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TTGGTCACTGACATGTCAGGG 0.507 NA 19 274 0 0 0.004656 0 0 LAMA1 284217 broad.mit.edu 37 18 7011460 7011460 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:7011460G>T uc002knm.2 - 25 3620 c.3526C>A c.(3526-3528)CAG>AAG p.Q1176K LAMA1_uc010wzj.1_Missense_Mutation_p.Q652K NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1176 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAAGAGGCTGATCGGAGCCC 0.532 NA 8 19 0.000442599 0.000475594 0.006214 1 0 ANKRD12 23253 broad.mit.edu 37 18 9255108 9255108 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:9255108G>C uc002knv.2 + 9 2100 c.1843G>C c.(1843-1845)GAA>CAA p.E615Q ANKRD12_uc002knw.2_Missense_Mutation_p.E592Q|ANKRD12_uc002knx.2_Missense_Mutation_p.E592Q|ANKRD12_uc010dkx.1_Missense_Mutation_p.E322Q NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 615 nucleus ovary(2)|central_nervous_system(1) 3 TTTCCACTTAGAATTTGGTGA 0.249 NA 9 173 0 0 0.006214 0 0 C18orf1 753 broad.mit.edu 37 18 13621256 13621256 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:13621256G>T uc002ksa.2 + 5 990 c.322G>T c.(322-324)GAC>TAC p.D108Y C18orf1_uc002ksb.2_Missense_Mutation_p.D108Y|C18orf1_uc002kse.2_Missense_Mutation_p.D71Y|C18orf1_uc002ksf.2_Missense_Mutation_p.D71Y|C18orf1_uc002ksg.1_Missense_Mutation_p.D31Y|C18orf1_uc002ksh.1_Missense_Mutation_p.D50Y|C18orf1_uc002ksi.1_Missense_Mutation_p.D50Y NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 108 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) GAGGCGGGAGGACGGGCTGCC 0.647 NA 28 117 2.46105e-21 3.57295e-21 0.002096 1 0 POTEC 388468 broad.mit.edu 37 18 14513693 14513693 + Missense_Mutation SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:14513693T>G uc010dln.2 - 10 1955 c.1501A>C c.(1501-1503)ATA>CTA p.I501L POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 501 Potential. skin(3) 3 GCCACTTCTATCTGCTTTTGT 0.299 NA 16 133 0 0 0.008871 0 0 LAMA3 3909 broad.mit.edu 37 18 21343483 21343483 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:21343483G>C uc002kuq.2 + 8 1264 c.1178G>C c.(1177-1179)TGT>TCT p.C393S LAMA3_uc010dlv.1_Missense_Mutation_p.C393S|LAMA3_uc002kur.2_Missense_Mutation_p.C393S NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 393 Domain V.|Laminin EGF-like 2. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCATTAACTGTCAGGTGAGG 0.488 NA 21 155 0 0 0.004656 0 0 MEP1B 4225 broad.mit.edu 37 18 29795168 29795168 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:29795168T>A uc002kxj.3 + 12 1750 c.1703T>A c.(1702-1704)CTG>CAG p.L568Q NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 568 Extracellular (Potential).|MATH. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 CACGAAAGGCTGAAAAGCAGA 0.368 NA 9 20 0 0 0.001855 0 0 DTNA 1837 broad.mit.edu 37 18 32405235 32405235 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:32405235A>G uc010dmn.1 + 9 1007 c.1006A>G c.(1006-1008)ACT>GCT p.T336A DTNA_uc002kxu.2_Missense_Mutation_p.T336A|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.T336A|DTNA_uc002kxw.2_Missense_Mutation_p.T336A|DTNA_uc002kxx.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dmk.1_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Intron|DTNA_uc010dmm.2_Missense_Mutation_p.T336A|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Intron|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 336 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 CAAAAGTGATACTTGGTAAGT 0.348 NA 20 159 0 0 0.005443 0 0 SETBP1 26040 broad.mit.edu 37 18 42530331 42530331 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:42530331G>C uc010dni.2 + 4 1322 c.1026G>C c.(1024-1026)GTG>GTC p.V342V NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 342 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAAAAGATGTGATAAGTCAGA 0.483 NA Schinzel-Giedion_syndrome 18 71 0 0 0.007413 0 0 SIGLEC15 284266 broad.mit.edu 37 18 43420203 43420203 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:43420203C>A uc002lbl.1 + 5 1051 c.902C>A c.(901-903)CCA>CAA p.P301Q SIGLEC15_uc010xcp.1_RNA NM_213602 NP_998767 Q6ZMC9 SIG15_HUMAN sialic acid binding Ig-like lectin 15 precursor 301 Cytoplasmic (Potential). integral to membrane 0 GACACCCCACCACGGTAAGTG 0.637 NA 10 128 5.50884e-06 6.17602e-06 0.001368 1 0 ALPK2 115701 broad.mit.edu 37 18 56203946 56203946 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:56203946G>A uc002lhj.3 - 5 3687 c.3473C>T c.(3472-3474)CCT>CTT p.P1158L ALPK2_uc002lhk.1_Missense_Mutation_p.P489L NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1158 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 AGATGTCGTAGGCAAACTTTG 0.552 NA 17 71 0 0 0.002299 0 0 ALPK2 115701 broad.mit.edu 37 18 56247148 56247148 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:56247148T>C uc002lhj.3 - 4 1074 c.860A>G c.(859-861)GAC>GGC p.D287G NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 287 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CACGGCACTGTCACCTGGGTA 0.493 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 43 0 0 0.001368 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449703 61449703 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:61449703C>A uc002ljl.2 + 2 193 c.97C>A c.(97-99)CTG>ATG p.L33M SERPINB7_uc002ljm.2_Missense_Mutation_p.L33M|SERPINB7_uc010xet.1_Missense_Mutation_p.L33M|SERPINB7_uc010dqg.2_Missense_Mutation_p.L33M NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 33 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) CTTTTCCTCTCTGAGCCTCTT 0.493 NA 29 46 9.45814e-24 1.39931e-23 0.004878 1 0 CDH7 1005 broad.mit.edu 37 18 63481777 63481777 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:63481777A>G uc002ljz.2 + 4 887 c.562A>G c.(562-564)AGT>GGT p.S188G CDH7_uc002lka.2_Missense_Mutation_p.S188G|CDH7_uc002lkb.2_Missense_Mutation_p.S188G NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 188 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) ATATGGCAACAGTGCCAGAGT 0.433 NA 43 78 0 0 0.00361 0 0 CDH7 1005 broad.mit.edu 37 18 63548025 63548025 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:63548025C>G uc002ljz.2 + 12 2578 c.2253C>G c.(2251-2253)ATC>ATG p.I751M CDH7_uc002lkb.2_Missense_Mutation_p.I751M NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 751 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TAGATTCCATCAGCTCAAACT 0.473 NA 9 97 0 0 0.008291 0 0 CD226 10666 broad.mit.edu 37 18 67563206 67563206 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:67563206T>A uc010dqo.2 - 3 905 c.458A>T c.(457-459)CAG>CTG p.Q153L CD226_uc002lkm.3_Missense_Mutation_p.Q153L NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 153 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) CATCTGAGGCTGACAAGTGAG 0.473 NSCLC(184;838 2130 8673 21498 50749) NA 29 29 0 0 0.003755 0 0 FBXO15 201456 broad.mit.edu 37 18 71796717 71796717 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:71796717T>C uc002lle.2 - 5 816 c.480A>G c.(478-480)CTA>CTG p.L160L FBXO15_uc002llf.2_Silent_p.L236L NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 160 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) ACAATGATGCTAGGCATGGCC 0.378 NA 11 33 0 0 0.001368 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999519 72999519 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:72999519C>T uc002lly.2 + 2 2585 c.2022C>T c.(2020-2022)CTC>CTT p.L674L NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 719 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CAGAGCCTCTCAAAGCAAAGG 0.572 NA 6 31 0 0 0.00308 0 0 CTDP1 9150 broad.mit.edu 37 18 77455237 77455237 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:77455237G>C uc002lnh.1 + 2 474 c.327G>C c.(325-327)GTG>GTC p.V109V CTDP1_uc002lni.1_Silent_p.V109V|CTDP1_uc010drd.1_Silent_p.V109V NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 109 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CGGTTCTGGTGAGGTTGGAAG 0.378 NA 12 57 0 0 0.003163 0 0 CTDP1 9150 broad.mit.edu 37 18 77477965 77477965 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:77477965C>T uc002lnh.1 + 10 2513 c.2366C>T c.(2365-2367)CCC>CTC p.P789L CTDP1_uc002lni.1_Missense_Mutation_p.P789L|CTDP1_uc010drd.1_Missense_Mutation_p.P789L NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 789 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GCCCGGGGGCCCCCAGCACCC 0.667 NA 4 61 0 0 0.001168 0 0 PRSSL1 400668 broad.mit.edu 37 19 694890 694890 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:694890C>A uc002lpl.1 - 2 191 c.160G>T c.(160-162)GGG>TGG p.G54W PRSSL1_uc010xfs.1_Missense_Mutation_p.G53W NM_214710 NP_999875 Q6UWY2 PRS57_HUMAN protease, serine-like 1 precursor 54 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTTGGCCCCCGAAGCGCACG 0.697 NA 8 1 2.17888e-05 2.40535e-05 0.006214 1 0 ABCA7 10347 broad.mit.edu 37 19 1043466 1043466 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:1043466G>C uc002lqw.3 + 9 1155 c.924G>C c.(922-924)ATG>ATC p.M308I ABCA7_uc010dsb.1_Missense_Mutation_p.M170I NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 308 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGCTCATGGCCCAGGTGG 0.652 NA 33 95 0 0 0.006999 0 0 DAZAP1 26528 broad.mit.edu 37 19 1428883 1428883 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:1428883G>T uc002lsn.2 + 8 778 c.589G>T c.(589-591)GCG>TCG p.A197S DAZAP1_uc002lsm.2_Missense_Mutation_p.A197S|DAZAP1_uc002lso.2_Missense_Mutation_p.A196S|DAZAP1_uc002lsl.1_Missense_Mutation_p.A197S NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 isoform b 197 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGAGCCAAGCGCCGGGACA 0.657 NA 12 50 6.40141e-05 6.99029e-05 0.000978 1 0 CREB3L3 84699 broad.mit.edu 37 19 4170148 4170148 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:4170148G>T uc002lzl.2 + 7 949 c.833G>T c.(832-834)TGC>TTC p.C278F CREB3L3_uc002lzm.2_Missense_Mutation_p.C268F|CREB3L3_uc010xib.1_Missense_Mutation_p.C267F|CREB3L3_uc010xic.1_Missense_Mutation_p.L233F NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 278 Cytoplasmic (Potential).|Leucine-zipper. response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) ATGTCAGCTTGCACTGCTCAG 0.468 NA 23 78 1.74197e-06 1.97711e-06 0.00632 1 0 PTPRS 5802 broad.mit.edu 37 19 5218454 5218454 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:5218454C>G uc002mbv.2 - 25 4259 c.4025G>C c.(4024-4026)AGA>ACA p.R1342T PTPRS_uc002mbu.1_Missense_Mutation_p.R911T|PTPRS_uc010xin.1_Missense_Mutation_p.R911T|PTPRS_uc002mbw.2_Missense_Mutation_p.R1320T|PTPRS_uc002mbx.2_Missense_Mutation_p.R915T|PTPRS_uc002mby.2_Missense_Mutation_p.R911T NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1342 Cytoplasmic (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GTTAATGCGTCTCATTTCCAC 0.552 NA 13 246 0 0 0.00499 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456536 5456536 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:5456536G>A uc002mca.3 + 1 1111 c.1034G>A c.(1033-1035)CGG>CAG p.R345Q NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 345 RING-type; atypical.|Cytoplasmic (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CAAGCCCCCCGGCGCTCCTGC 0.622 NA 18 103 0 0 0.00278 0 0 TUBB4 10382 broad.mit.edu 37 19 6495474 6495474 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:6495474G>T uc002mfg.1 - 4 1143 c.1036C>A c.(1036-1038)CCC>ACC p.P346T TUBB4_uc002mff.1_Missense_Mutation_p.P274T|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 346 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) ACGTTGTTGGGGATCCACTCC 0.632 NA 89 118 1.44786e-46 2.32256e-46 0.00361 1 0 CD70 970 broad.mit.edu 37 19 6590933 6590933 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:6590933G>T uc002mfi.2 - 1 231 c.81C>A c.(79-81)GTC>GTA p.V27V CD70_uc010xjf.1_Silent_p.V27V NM_001252 NP_001243 P32970 CD70_HUMAN tumor necrosis factor ligand superfamily, member 27 Helical; Signal-anchor for type II membrane protein; (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding 0 CCAAGCCCGCGACCAATGGGA 0.662 Pancreas(183;2617 2876 10173 34193) NA 12 70 2.32078e-09 2.82811e-09 0.003163 1 0 EMR1 2015 broad.mit.edu 37 19 6890521 6890521 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:6890521C>A uc002mfw.2 + 2 99 c.61C>A c.(61-63)CAC>AAC p.H21N EMR1_uc010dvc.2_Missense_Mutation_p.H21N|EMR1_uc010dvb.2_Missense_Mutation_p.H21N|EMR1_uc010xji.1_Missense_Mutation_p.H21N|EMR1_uc010xjj.1_Missense_Mutation_p.H21N NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 21 Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) CTGGGAAGGGCACATAAGACC 0.428 NA 5 25 2.7689e-08 3.30238e-08 0.001984 1 0 ZNF358 140467 broad.mit.edu 37 19 7584121 7584121 + Translation_Start_Site SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:7584121C>T uc002mgn.2 + 2 163 c.-7C>T c.(-9--5)CACGC>CATGC NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GGCACATCCACGCCTGAAATG 0.602 NA 12 73 0 0 0.004007 0 0 ZNF358 140467 broad.mit.edu 37 19 7585782 7585782 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:7585782G>T uc002mgn.2 + 2 1824 c.1654G>T c.(1654-1656)GAG>TAG p.E552* MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 552 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CCCTACCGGCGAGAGTCCAGA 0.652 NA 18 79 2.94398e-08 3.49468e-08 0.007413 1 0 CLEC4G 339390 broad.mit.edu 37 19 7794745 7794745 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:7794745C>G uc002mhp.3 - 8 774 c.705G>C c.(703-705)CAG>CAC p.Q235H NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 235 Extracellular (Potential).|C-type lectin. integral to membrane protein binding|sugar binding 0 ACTGGTAGCCCTGAACCTTGC 0.612 Esophageal Squamous(146;540 1807 3349 19438 30853) NA 10 78 0 0 0.00245 0 0 MUC16 94025 broad.mit.edu 37 19 9056231 9056232 + Missense_Mutation DNP AA AA CT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 AA AA - - AA AA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:9056231_9056232AA>CT uc002mkp.2 - 3 31418_31419 c.31214_31215TT>AG c.(31213-31215)GTT>GAG p.V10405E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10407 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 TTCCCAGCTCAACGCTCTCTGT 0.485 NA 27 63 0 0 0.004672 0 0 SMARCA4 6597 broad.mit.edu 37 19 11136108 11136108 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:11136108G>T uc002mqf.3 + 22 3376 c.3092G>T c.(3091-3093)GGC>GTC p.G1031V SMARCA4_uc010dxp.2_Missense_Mutation_p.G1031V|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1031V|SMARCA4_uc002mqg.1_Missense_Mutation_p.G1031V|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1031V|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1031V|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1031V|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1031V|SMARCA4_uc010dxt.1_Missense_Mutation_p.G251V|SMARCA4_uc002mqh.3_Missense_Mutation_p.G154V|SMARCA4_uc002mqi.1_Missense_Mutation_p.G234V NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1031 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGCAAAGGCGGCACCAAGACC 0.632 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 9 67 1.76689e-08 2.11232e-08 0.006214 1 0 ZNF441 126068 broad.mit.edu 37 19 11892146 11892146 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:11892146C>T uc010dyj.2 + 4 1701 c.1507C>T c.(1507-1509)CAT>TAT p.H503Y ZNF441_uc002msn.3_Missense_Mutation_p.H459Y NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 503 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGATGGACCTCATAAATGTAA 0.403 NA 29 48 0 0 0.007835 0 0 ZNF440 126070 broad.mit.edu 37 19 11943217 11943217 + Nonsense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:11943217C>G uc002msp.1 + 4 1382 c.1226C>G c.(1225-1227)TCA>TGA p.S409* NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 409 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGATCTGCCTCACACCTTCGA 0.458 NA 19 75 0 0 0.00333 0 0 FBXW9 84261 broad.mit.edu 37 19 12805682 12805683 + Missense_Mutation DNP CC CC TA TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:12805682_12805683CC>TA uc010dyx.2 - 2 449_450 c.449_450GG>TA c.(448-450)GGG>GTA p.G150V FBXW9_uc010xmp.1_Intron|FBXW9_uc002mum.1_Missense_Mutation_p.G160V|FBXW9_uc002mun.1_Intron NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 160 protein binding ovary(1) 1 CGACCCAGCGCCCATCCTCTGC 0.644 NA 4 23 0 0 0.004672 0 0 PIK3R2 5296 broad.mit.edu 37 19 18273784 18273784 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:18273784G>A uc002nia.1 + 10 1629 c.1117G>A c.(1117-1119)GGG>AGG p.G373R PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 373 SH2 1. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 CAGGAAAGGCGGGAACAATAA 0.512 NA 11 94 0 0 0.00245 0 0 MPV17L2 84769 broad.mit.edu 37 19 18305825 18305825 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:18305825C>G uc002nid.2 + 4 545 c.493C>G c.(493-495)CAA>GAA p.Q165E MPV17L2_uc010ebj.2_Missense_Mutation_p.P75R NM_032683 NP_116072 Q567V2 M17L2_HUMAN MPV17 mitochondrial membrane protein-like 2 165 integral to membrane 0 CGTGCCCCCCCAATTTCGAGT 0.478 NA 6 245 0 0 0.001984 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368153 18368153 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:18368153A>C uc002nin.2 - 4 3596 c.3380T>G c.(3379-3381)TTT>TGT p.F1127C PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.F1314C|KIAA1683_uc010xqe.1_Missense_Mutation_p.F1081C|KIAA1683_uc010xqf.1_RNA NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 1127 IQ 5. mitochondrion ovary(2) 2 GCGGATCTTAAAGCCCCTCCA 0.622 NA 12 96 0 0 0.004007 0 0 FKBP8 23770 broad.mit.edu 37 19 18649221 18649221 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:18649221C>A uc002njk.1 - 5 687 c.574G>T c.(574-576)GCG>TCG p.A192S FKBP8_uc002nji.1_Missense_Mutation_p.A30S|FKBP8_uc010xqi.1_Missense_Mutation_p.A221S|FKBP8_uc002njj.1_Missense_Mutation_p.A193S|FKBP8_uc002njl.1_Missense_Mutation_p.A193S|FKBP8_uc002njm.1_Missense_Mutation_p.A192S|FKBP8_uc010ebr.1_Missense_Mutation_p.A31S|FKBP8_uc002njn.2_RNA NM_012181 NP_036313 Q14318 FKBP8_HUMAN FK506-binding protein 8 192 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding ovary(1) 1 CACAGGGCCGCGTGCGGGGGG 0.682 NA 10 46 4.68919e-08 5.51444e-08 0.008291 1 0 CRLF1 9244 broad.mit.edu 37 19 18710436 18710436 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:18710436G>T uc010ebt.1 - 2 530 c.336C>A c.(334-336)GAC>GAA p.D112E NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 112 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(1) 1 ACACGAGGTTGTCCCCCGACC 0.672 NA 11 58 9.70103e-10 1.1908e-09 0.008291 1 0 CRLF1 9244 broad.mit.edu 37 19 18710443 18710443 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:18710443G>T uc010ebt.1 - 2 523 c.329C>A c.(328-330)TCG>TAG p.S110* NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 110 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(1) 1 GTTGTCCCCCGACCGCTGCCT 0.672 NA 11 49 1.08611e-07 1.26254e-07 0.000978 1 0 TMEM59L 25789 broad.mit.edu 37 19 18727850 18727850 + Missense_Mutation SNP G G A rs61731609 byFrequency TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:18727850G>A uc002njy.3 + 5 689 c.602G>A c.(601-603)CGT>CAT p.R201H TMEM59L_uc010ebu.1_Missense_Mutation_p.R201H NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 201 Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 CAGGGGGGCCGTCTGCAGCGC 0.642 NA 20 172 0 0 0.001882 0 0 NCAN 1463 broad.mit.edu 37 19 19349079 19349079 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:19349079C>T uc002nlz.2 + 11 3367 c.3268C>T c.(3268-3270)CGC>TGC p.R1090C NCAN_uc010ecc.1_Missense_Mutation_p.R654C|NCAN_uc002nma.2_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1090 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GGGCTGTGACCGCGGCTGGCA 0.657 NA 64 90 0 0 0.00361 0 0 ZNF708 7562 broad.mit.edu 37 19 21476519 21476519 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:21476519T>C uc002npq.1 - 4 1447 c.1249A>G c.(1249-1251)AAG>GAG p.K417E ZNF708_uc002npr.1_Missense_Mutation_p.K353E|ZNF708_uc010ecs.1_Missense_Mutation_p.K353E NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 TAGGGTTTCTTTCCAGTATGA 0.343 NA 4 55 0 0 0.009096 0 0 ZNF208 7757 broad.mit.edu 37 19 22156743 22156743 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:22156743C>A uc002nqp.2 - 4 1242 c.1093G>T c.(1093-1095)GGA>TGA p.G365* ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GGTTTCTCTCCAGTATGAATT 0.388 NA 13 63 1.49906e-05 1.66214e-05 0.00245 1 0 ZNF257 113835 broad.mit.edu 37 19 22271347 22271347 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:22271347C>A uc010ecx.2 + 4 964 c.795C>A c.(793-795)GCC>GCA p.A265A ZNF257_uc010ecy.2_Silent_p.A233A NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 265 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GTGGCAAAGCCTTTAACCGGT 0.388 NA 25 16 3.69857e-22 5.42421e-22 0.008361 1 0 ZNF91 7644 broad.mit.edu 37 19 23542980 23542980 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:23542980C>T uc002nre.2 - 4 2914 c.2801G>A c.(2800-2802)GGA>GAA p.G934E ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.G902E NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 934 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGGTTTCTCTCCAGTGTGCAT 0.398 NA 12 115 0 0 0.00499 0 0 ZNF536 9745 broad.mit.edu 37 19 30935569 30935569 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:30935569A>G uc002nsu.1 + 2 1238 c.1100A>G c.(1099-1101)CAC>CGC p.H367R ZNF536_uc010edd.1_Missense_Mutation_p.H367R NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 367 C2H2-type 5. 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) ATGCGCAAGCACAAAGACTCC 0.612 NA 35 146 0 0 0.00623 0 0 CD22 933 broad.mit.edu 37 19 35823583 35823583 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:35823583C>T uc010edt.2 + 3 245 c.168C>T c.(166-168)TTC>TTT p.F56F CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Silent_p.F56F|CD22_uc010edv.2_Silent_p.F56F|CD22_uc002nzb.3_Silent_p.F56F NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 56 Extracellular (Potential).|Ig-like V-type. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGGAAAGCTTCATCCTGTTCC 0.512 Ovarian(42;1009 1133 23674 26041) NA 16 125 0 0 0.00278 0 0 MLL4 9757 broad.mit.edu 37 19 36220984 36220984 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:36220984G>C uc010eei.2 + 24 5034 c.5034G>C c.(5032-5034)AAG>AAC p.K1678N NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1678 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGATGACAAGAAAGTCTTCT 0.572 NA 4 17 0 0 0.000602 0 0 KCNK6 9424 broad.mit.edu 37 19 38817411 38817411 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:38817411G>T uc002oic.2 + 2 611 c.501G>T c.(499-501)CGG>CGT p.R167R KCNK6_uc002oid.2_Silent_p.R33R NM_004823 NP_004814 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 167 Cytoplasmic (Potential). voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1) 1 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) ACCCCCGGCGGGCGGCCTGCT 0.672 NA 19 68 2.94398e-08 3.49468e-08 0.007413 1 0 FBXO27 126433 broad.mit.edu 37 19 39517606 39517606 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:39517606G>A uc002okh.2 - 5 694 c.612C>T c.(610-612)CTC>CTT p.L204L NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 204 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GTTGGACGAGGAGTCTGTACA 0.562 NA 113 80 0 0 0.00361 0 0 LRFN1 57622 broad.mit.edu 37 19 39798904 39798904 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:39798904T>C uc002okw.2 - 2 1685 c.1685A>G c.(1684-1686)TAT>TGT p.Y562C NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 562 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCCGTCGCCATACACCTTATA 0.657 NA 4 34 0 0 0.001168 0 0 FCGBP 8857 broad.mit.edu 37 19 40430340 40430340 + Missense_Mutation SNP C C A rs148563964 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:40430340C>A uc002omp.3 - 3 1611 c.1603G>T c.(1603-1605)GCC>TCC p.A535S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 535 VWFD 1. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGCTGTAGGCGCGCACAGTG 0.667 NA 8 49 2.80697e-09 3.38784e-09 0.000978 1 0 ZNF574 64763 broad.mit.edu 37 19 42583941 42583941 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:42583941C>T uc002osm.3 + 2 1352 c.1183C>T c.(1183-1185)CCA>TCA p.P395S ZNF574_uc002osk.3_Missense_Mutation_p.P485S NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 395 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GCATTCATGTCCATGTGGGAA 0.592 NA 22 75 0 0 0.00333 0 0 POU2F2 5452 broad.mit.edu 37 19 42599776 42599776 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:42599776C>A uc002osp.2 - 10 942 c.875G>T c.(874-876)GGC>GTC p.G292V POU2F2_uc002osn.2_Missense_Mutation_p.G276V|POU2F2_uc002oso.2_Missense_Mutation_p.G65V|POU2F2_uc002osq.2_Missense_Mutation_p.G276V|POU2F2_uc002osr.1_Missense_Mutation_p.G292V NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 292 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V292V(1) ovary(1)|skin(1) 2 Prostate(69;0.059) GCCGGGCAGGCCGTCGAAACC 0.627 NA 28 19 4.31865e-32 6.65269e-32 0.004878 1 0 POU2F2 5452 broad.mit.edu 37 19 42600287 42600287 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:42600287C>A uc002osp.2 - 8 677 c.610G>T c.(610-612)GAG>TAG p.E204* POU2F2_uc002osn.2_Nonsense_Mutation_p.E188*|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Nonsense_Mutation_p.E188*|POU2F2_uc002osr.1_Nonsense_Mutation_p.E204* NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 204 POU-specific. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) GCGAATTGCTCCAGCTCCTCC 0.692 NA 20 29 8.24728e-16 1.12301e-15 0.004656 1 0 CIC 23152 broad.mit.edu 37 19 42791820 42791820 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:42791820G>T uc002otf.1 + 5 746 c.706G>T c.(706-708)GAG>TAG p.E236* NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 236 HMG box. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GATCCTGGGCGAGTGGTGGTA 0.607 NA T DUX4 soft tissue sarcoma 52 40 7.41606e-26 1.11351e-25 0.00361 1 0 PSG8 440533 broad.mit.edu 37 19 43257524 43257524 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:43257524C>A uc002ouh.2 - 6 1346 c.1248G>T c.(1246-1248)TGG>TGT p.W416C PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.W255C|PSG8_uc010ein.2_Missense_Mutation_p.W294C|PSG8_uc002ouj.3_Missense_Mutation_p.W198C|PSG8_uc002ouk.3_Missense_Mutation_p.W255C|PSG8_uc002oul.3_Missense_Mutation_p.W416C|PSG8_uc002oum.3_Missense_Mutation_p.W323C|PSG1_uc002oun.2_RNA NM_001130167 NP_001123639 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 416 extracellular region 0 Prostate(69;0.00899) agggtaatgtccagtctacag 0 NA 14 68 0.000422831 0.000454837 0.004007 1 0 PSG4 5672 broad.mit.edu 37 19 43698701 43698701 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:43698701C>T uc002ovy.2 - 5 1136 c.1034G>A c.(1033-1035)CGT>CAT p.R345H PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_Intron|PSG4_uc002owb.2_Missense_Mutation_p.R252H|PSG4_uc002ovz.2_Missense_Mutation_p.R252H NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 345 Ig-like C2-type 3. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) TTCTCCTGAACGGTAATAGGT 0.478 NA 32 223 0 0 0.002445 0 0 PSG9 5678 broad.mit.edu 37 19 43773566 43773566 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:43773566G>T uc002owd.3 - 1 117 c.18C>A c.(16-18)GCC>GCA p.A6A PSG9_uc002owe.3_Silent_p.A6A|PSG9_uc010xwm.1_Silent_p.A6A|PSG9_uc002owf.3_Silent_p.A6A|PSG9_uc002owg.2_Silent_p.A6A|PSG9_uc002owh.2_Silent_p.A6A NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 6 female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TGCAGGAAGGGGCTGGGAGGG 0.617 NA 25 171 2.95478e-19 4.19321e-19 0.00874 1 0 PHLDB3 653583 broad.mit.edu 37 19 44001348 44001348 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:44001348C>A uc002own.3 - 6 1006 c.747G>T c.(745-747)GAG>GAT p.E249D PHLDB3_uc010eit.2_5'Flank|PHLDB3_uc002owo.2_Missense_Mutation_p.E249D NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 249 Potential. 0 Prostate(69;0.0153) CCCGATCCTCCTCCTCCTGCC 0.592 NA 18 84 1.37657e-19 1.9618e-19 0.001882 1 0 GEMIN7 79760 broad.mit.edu 37 19 45593559 45593559 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:45593559C>T uc002pap.1 + 3 338 c.187C>T c.(187-189)CGG>TGG p.R63W uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R63W|GEMIN7_uc002par.1_Missense_Mutation_p.R63W NM_001007270 NP_001007271 Q9H840 GEMI7_HUMAN gemin 7 63 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) AGCCGCCCTTCGGGAGCGTTA 0.632 NA 4 39 0 0 0.000602 0 0 KLC3 147700 broad.mit.edu 37 19 45851263 45851263 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:45851263G>A uc002pbf.1 + 5 739 c.624G>A c.(622-624)CGG>CGA p.R208R KLC3_uc010ejy.1_Silent_p.R207R|KLC3_uc002pbg.1_Silent_p.R222R NM_177417 NP_803136 Q6P597 KLC3_HUMAN kinesin light chain 3 208 TPR 1. cytoplasm|kinesin complex|microtubule microtubule motor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCCGCCTTCGGACCCTGCATA 0.677 NA 5 23 0 0 0.001984 0 0 SPACA4 171169 broad.mit.edu 37 19 49110431 49110431 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:49110431C>A uc002pjo.2 + 1 432 c.196C>A c.(196-198)CTG>ATG p.L66M FAM83E_uc002pjn.2_Intron NM_133498 NP_598005 Q8TDM5 SACA4_HUMAN sperm acrosomal membrane protein 14 precursor 66 UPAR/Ly6 1. cell adhesion acrosomal vesicle|anchored to membrane|plasma membrane central_nervous_system(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) CAAAGGCTGCCTGCGAGCCAC 0.642 NA 4 43 2.56e-06 2.88608e-06 0.009096 1 0 SNRNP70 6625 broad.mit.edu 37 19 49601690 49601690 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:49601690C>G uc002pmk.2 + 5 711 c.272C>G c.(271-273)CCT>CGT p.P91R SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.P91R|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA NM_003089 NP_003080 P08621 RU17_HUMAN U1 small nuclear ribonucleoprotein 70 kDa 91 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 ACAGGGGACCCTCACAATGAT 0.517 NA OREG0025616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 170 0 0 0.002445 0 0 SLC17A7 57030 broad.mit.edu 37 19 49934685 49934685 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:49934685G>C uc002pnp.2 - 10 1343 c.1171C>G c.(1171-1173)CTG>GTG p.L391V SLC17A7_uc002pno.2_Intron NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 391 Helical; (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) ACCAACAGCAGCGTGGCTTCC 0.582 NA 9 50 0 0 0.000978 0 0 RPL13A 23521 broad.mit.edu 37 19 49993733 49993733 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:49993733G>A uc002pny.2 + 4 178 c.156G>A c.(154-156)TTG>TTA p.L52L RPL13A_uc002pnz.2_5'UTR|RPL13A_uc002poa.2_Missense_Mutation_p.M42I|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank NM_012423 NP_036555 P40429 RL13A_HUMAN ribosomal protein L13a 52 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) TCTCCCTAGTGAAGTACCTGG 0.622 NA 7 53 0 0 0.001984 0 0 CPT1C 126129 broad.mit.edu 37 19 50195610 50195610 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:50195610C>G uc002ppj.2 + 2 306 c.101C>G c.(100-102)TCT>TGT p.S34C CPT1C_uc002ppl.3_Missense_Mutation_p.S34C|CPT1C_uc002ppi.2_5'UTR|CPT1C_uc002ppk.2_Missense_Mutation_p.S34C|CPT1C_uc010eng.2_Missense_Mutation_p.S34C|CPT1C_uc010enh.2_Missense_Mutation_p.S34C|CPT1C_uc010ybc.1_5'UTR NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 34 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) ATCTACCTCTCTGGCCTGCGC 0.622 NA 12 60 0 0 0.003163 0 0 ZNF473 25888 broad.mit.edu 37 19 50548106 50548106 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:50548106G>C uc002prn.2 + 5 643 c.406G>C c.(406-408)GAT>CAT p.D136H ZNF473_uc002prm.2_Missense_Mutation_p.D136H|ZNF473_uc010ybo.1_Missense_Mutation_p.D124H NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 136 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TCTGAGGTCTGATATTGCCAC 0.483 NA 9 56 0 0 0.001368 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001316 52001316 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:52001316G>T uc002pwx.1 - 5 1417 c.1361C>A c.(1360-1362)TCC>TAC p.S454Y SIGLEC12_uc002pww.1_Missense_Mutation_p.S336Y|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S181Y NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 454 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) AATGTGCTGGGAGCCTAGAGG 0.592 NA 30 57 1.26612e-14 1.68983e-14 0.003271 1 0 ZNF845 91664 broad.mit.edu 37 19 53855364 53855364 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:53855364C>T uc010ydv.1 + 4 1553 c.1436C>T c.(1435-1437)ACA>ATA p.T479I ZNF845_uc010ydw.1_Missense_Mutation_p.T479I NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 479 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCAGTCAGACATCATCCCTT 0.378 NA 4 126 0 0 0.00308 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55377322 55377322 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:55377322C>A uc002qhl.3 + 7 1126 c.1063C>A c.(1063-1065)CTC>ATC p.L355I KIR3DL2_uc010esh.2_Missense_Mutation_p.L338I|KIR3DL2_uc002qho.3_Missense_Mutation_p.L355I P43629 KI3L1_HUMAN SubName: Full=KIR3DS1; 355 Helical; (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) cttcatcctcctcctcttctt 0.413 NA 22 27 1.50039e-11 1.90188e-11 0.001882 1 0 RPL28 6158 broad.mit.edu 37 19 55897779 55897779 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:55897779C>G uc002qkv.2 + 2 96 c.54C>G c.(52-54)ATC>ATG p.I18M uc002qku.2_5'Flank|RPL28_uc010yfz.1_Missense_Mutation_p.I18M|RPL28_uc010yfy.1_Missense_Mutation_p.I18M|RPL28_uc010yga.1_Missense_Mutation_p.I18M|RPL28_uc010ygb.1_Missense_Mutation_p.I18M|RPL28_uc002qkw.1_Missense_Mutation_p.I18M NM_000991 NP_000982 P46779 RL28_HUMAN ribosomal protein L28 isoform 2 18 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) GTTTCCTGATCAAGAGGAATA 0.607 NA 6 44 0 0 0.006214 0 0 U2AF2 11338 broad.mit.edu 37 19 56179919 56179919 + Silent SNP C C T rs80011152 byFrequency TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:56179919C>T uc002qlu.2 + 8 1844 c.789C>T c.(787-789)ATC>ATT p.I263I U2AF2_uc002qlt.2_Silent_p.I263I NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 263 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) AGCTGTTCATCGGGGGCTTAC 0.582 NA 9 88 0 0 0.008291 0 0 ZIM2 23619 broad.mit.edu 37 19 57290750 57290750 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:57290750C>A uc002qnr.2 - 10 1119 c.737G>T c.(736-738)TGT>TTT p.C246F uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.C42F|ZIM2_uc010ygr.1_Missense_Mutation_p.C42F|ZIM2_uc002qnq.2_Missense_Mutation_p.C246F|ZIM2_uc010etp.2_Missense_Mutation_p.C246F|ZIM2_uc010ygs.1_Missense_Mutation_p.C246F NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 246 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) CTCACCTTGACAAATCACTGT 0.517 NA 23 115 2.79863e-10 3.46481e-10 0.004656 1 0 ZNF154 7710 broad.mit.edu 37 19 58213694 58213694 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr19:58213694C>T uc010euf.2 - 3 863 c.623G>A c.(622-624)CGG>CAG p.R208Q ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA NM_001085384 NP_001078853 Q13106 ZN154_HUMAN zinc finger protein 154 208 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTGAACTCTCCGGTGCTGAAT 0.438 NA 18 102 0 0 0.006122 0 0 ADAM17 6868 broad.mit.edu 37 2 9676042 9676042 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:9676042T>A uc002qzu.2 - 4 554 c.371A>T c.(370-372)GAC>GTC p.D124V ADAM17_uc010ewy.2_Missense_Mutation_p.D124V|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exb.1_Missense_Mutation_p.D124V|ADAM17_uc002qzv.2_Missense_Mutation_p.D124V NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 124 B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) AACCCTAGAGTCAGGCTCACC 0.299 NA 4 37 0 0 0.009096 0 0 NBAS 51594 broad.mit.edu 37 2 15519904 15519904 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:15519904C>A uc002rcc.1 - 30 3438 c.3412G>T c.(3412-3414)GCT>TCT p.A1138S NBAS_uc010exl.1_Missense_Mutation_p.A210S|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1138 ovary(2)|liver(1)|skin(1) 4 ATCTGTCCAGCCAGGTGGATG 0.443 NA 83 56 1.76565e-42 2.81445e-42 0.00361 1 0 MYCN 4613 broad.mit.edu 37 2 16086175 16086175 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:16086175C>G uc002rci.2 + 3 1651 c.1351C>G c.(1351-1353)CAG>GAG p.Q451E MYCN_uc010yjr.1_Missense_Mutation_p.Q443E NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 451 Leucine-zipper. regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) GCAGGCAAGACAGCAGCAGTT 0.458 NA A neuroblastoma 25 159 0 0 0.008361 0 0 WDR35 57539 broad.mit.edu 37 2 20175335 20175335 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:20175335C>A uc002rdi.2 - 6 634 c.526G>T c.(526-528)GCA>TCA p.A176S WDR35_uc002rdj.2_Missense_Mutation_p.A176S|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 176 WD 4. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCCATTTGCCATTCCAAAA 0.343 NA 22 11 2.37509e-13 3.1204e-13 0.010504 1 0 OTOF 9381 broad.mit.edu 37 2 26689665 26689665 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:26689665C>A uc002rhk.2 - 36 4544 c.4417G>T c.(4417-4419)GGC>TGC p.G1473C OTOF_uc010yla.1_Missense_Mutation_p.G203C|OTOF_uc002rhh.2_Missense_Mutation_p.G706C|OTOF_uc002rhi.2_Missense_Mutation_p.G783C|OTOF_uc002rhj.2_Missense_Mutation_p.G706C NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1473 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGTCGTAGCCGGCTTCCCGG 0.607 GBM(102;732 1451 20652 24062 31372) NA 41 104 2.74695e-27 4.16793e-27 0.00361 1 0 FAM179A 165186 broad.mit.edu 37 2 29274845 29274845 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:29274845G>C uc010ezl.2 + 20 3297 c.2946G>C c.(2944-2946)ACG>ACC p.T982T FAM179A_uc010ymm.1_Silent_p.T927T|FAM179A_uc002rmr.3_Silent_p.T509T NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 982 binding ovary(3)|skin(1) 4 TCCTCAAGACGCTCCAGGAAC 0.637 NA 4 16 0 0 0.009096 0 0 HEATR5B 54497 broad.mit.edu 37 2 37283652 37283652 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:37283652C>T uc002rpp.1 - 16 2426 c.2330G>A c.(2329-2331)GGA>GAA p.G777E NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 777 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GACTGAGACTCCGAGAGGGAG 0.458 NA 34 94 0 0 0.00874 0 0 CDKL4 344387 broad.mit.edu 37 2 39431680 39431680 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:39431680C>G uc002rrm.2 - 4 442 c.442G>C c.(442-444)GCA>CCA p.A148P CDKL4_uc010fal.1_Missense_Mutation_p.A148P NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 148 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) AGAATTTGTGCAAACCCGAAG 0.284 NA 11 66 0 0 0.00245 0 0 REL 5966 broad.mit.edu 37 2 61144153 61144153 + Splice_Site SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:61144153G>T uc002sam.1 + 5 759 c.535_splice c.e5+1 p.R179_splice REL_uc002san.1_Splice_Site_p.R179_splice NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) TATGACAACCGTAAGTACTTC 0.274 NA A Hodgkin Lymphoma 31 42 2.40579e-17 3.34359e-17 0.00623 1 0 PROKR1 10887 broad.mit.edu 37 2 68882544 68882544 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:68882544C>G uc010yqj.1 + 2 1018 c.1018C>G c.(1018-1020)CTG>GTG p.L340V PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 340 Helical; Name=7; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 GATCAACACTCTGTGCTTCGT 0.507 NA 19 55 0 0 0.003954 0 0 DYSF 8291 broad.mit.edu 37 2 71892384 71892384 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:71892384G>C uc002sie.2 + 46 5526 c.5150G>C c.(5149-5151)CGG>CCG p.R1717P DYSF_uc010feg.2_Missense_Mutation_p.R1748P|DYSF_uc010feh.2_Missense_Mutation_p.R1724P|DYSF_uc002sig.3_Missense_Mutation_p.R1703P|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1738P|DYSF_uc010fef.2_Missense_Mutation_p.R1755P|DYSF_uc010fei.2_Missense_Mutation_p.R1734P|DYSF_uc010fek.2_Missense_Mutation_p.R1735P|DYSF_uc010fej.2_Missense_Mutation_p.R1725P|DYSF_uc010fel.2_Missense_Mutation_p.R1704P|DYSF_uc010feo.2_Missense_Mutation_p.R1749P|DYSF_uc010fem.2_Missense_Mutation_p.R1739P|DYSF_uc010fen.2_Missense_Mutation_p.R1756P|DYSF_uc002sif.2_Missense_Mutation_p.R1718P|DYSF_uc010yqy.1_Missense_Mutation_p.R598P|DYSF_uc010yqz.1_Missense_Mutation_p.R478P NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1717 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CCTGTGTACCGGACAGACCGT 0.562 NA 34 105 0 0 0.005524 0 0 LBX2 85474 broad.mit.edu 37 2 74725136 74725136 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:74725136G>A uc002slv.3 - 2 520 c.515C>T c.(514-516)CCA>CTA p.P172L LBX2_uc002slw.2_Missense_Mutation_p.P168L NM_001009812 NP_001009812 Q6XYB7 LBX2_HUMAN ladybird homeobox 2 172 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCGGGATCTGGAGCGCCTTC 0.662 NA 15 56 0 0 0.001882 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745498 77745498 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:77745498C>A uc002snr.2 - 3 1912 c.1497G>T c.(1495-1497)TCG>TCT p.S499S LRRTM4_uc002snq.2_Silent_p.S499S|LRRTM4_uc002sns.2_Silent_p.S499S|LRRTM4_uc002snt.2_Silent_p.S500S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 499 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) ATCCATTAACCGATATATCCA 0.463 NA 10 11 0.000673444 0.000717534 0.008291 1 0 REG1A 5967 broad.mit.edu 37 2 79350055 79350055 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:79350055G>T uc002snz.2 + 5 513 c.410G>T c.(409-411)TGT>TTT p.C137F REG1A_uc010ysd.1_Missense_Mutation_p.C137F NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 137 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 CCTGGCTACTGTGTGAGCCTG 0.567 NA 29 45 3.1745e-13 4.13833e-13 0.008361 1 0 CD8A 925 broad.mit.edu 37 2 87017616 87017617 + Missense_Mutation DNP CC CC AT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:87017616_87017617CC>AT uc002srt.2 - 2 1126_1127 c.237_238GG>AT c.(235-240)AAGGCG>AAATCG p.A80S RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.A80S|CD8A_uc010ytn.1_Missense_Mutation_p.A121S|CD8A_uc002sru.2_Missense_Mutation_p.A80S NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 80 Ig-like V-type.|Extracellular (Potential). antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 CCCTCGGCCGCCTTGGGCTTGT 0.663 NA 28 101 0 0 0.004672 0 0 VWA3B 200403 broad.mit.edu 37 2 98852870 98852870 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:98852870G>T uc002syo.2 + 18 2710 c.2446G>T c.(2446-2448)GCT>TCT p.A816S VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.A335S|VWA3B_uc002sym.2_Missense_Mutation_p.A816S|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.A473S|VWA3B_uc002syp.1_Missense_Mutation_p.A208S|VWA3B_uc002syq.1_Missense_Mutation_p.A92S|VWA3B_uc002syr.1_Missense_Mutation_p.A133S|VWA3B_uc010fih.1_5'Flank NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 816 ovary(3)|large_intestine(2)|skin(1) 6 CATCTTGCTGGCTGAGGAGTG 0.443 NA 28 108 6.84511e-11 8.57977e-11 0.003271 1 0 UNC50 25972 broad.mit.edu 37 2 99234748 99234748 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:99234748A>G uc002szc.3 + 6 913 c.761A>G c.(760-762)TAT>TGT p.Y254C C2orf64_uc002sza.2_Intron|UNC50_uc002szb.2_Missense_Mutation_p.Y254C|UNC50_uc010yvl.1_Missense_Mutation_p.Y271C NM_014044 NP_054763 Q53HI1 UNC50_HUMAN unc-50 homolog 254 Lumenal (Potential). protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding 0 TGTTCTTTCTATAAGTACAGA 0.368 NA 8 43 0 0 0.000978 0 0 GPR45 11250 broad.mit.edu 37 2 105858897 105858897 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:105858897C>G uc002tco.1 + 1 698 c.582C>G c.(580-582)GCC>GCG p.A194A NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 194 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 CTGACCGCGCCTACGTGGTCA 0.692 NA 19 15 0 0 0.008871 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423223 107423223 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:107423223C>G uc002tdq.2 - 6 1620 c.1501G>C c.(1501-1503)GGG>CGG p.G501R ST6GAL2_uc002tdr.2_Missense_Mutation_p.G501R NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 501 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 TGCAAATCCCCCTGCGTGCCC 0.587 NA 46 38 0 0 0.00361 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626829 108626829 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:108626829C>A uc002tdv.2 + 9 1531 c.1255C>A c.(1255-1257)CCC>ACC p.P419T SLC5A7_uc010ywm.1_Missense_Mutation_p.P172T|SLC5A7_uc010fjj.2_Missense_Mutation_p.P419T|SLC5A7_uc010ywn.1_Missense_Mutation_p.P306T NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 419 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CGTTATCTTCCCCCAGCTGCT 0.502 NA 25 57 3.11337e-16 4.2682e-16 0.002836 1 0 GCC2 9648 broad.mit.edu 37 2 109085530 109085530 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:109085530A>T uc002tec.2 + 5 465 c.311A>T c.(310-312)CAA>CTA p.Q104L GCC2_uc002ted.2_Missense_Mutation_p.Q3L NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 104 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AAAATGAAGCAAGAGGTTGAG 0.313 NA 20 54 0 0 0.00333 0 0 MERTK 10461 broad.mit.edu 37 2 112751865 112751865 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:112751865G>T uc002thk.1 + 9 1456 c.1334G>T c.(1333-1335)CGA>CTA p.R445L MERTK_uc002thl.1_Missense_Mutation_p.R269L NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 445 Fibronectin type-III 2.|Extracellular (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 AATGGCAGCCGAGCTCGGATC 0.527 NA 61 128 7.75977e-34 1.20827e-33 0.00361 1 0 DDX18 8886 broad.mit.edu 37 2 118575196 118575196 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:118575196C>A uc002tlh.1 + 2 361 c.262C>A c.(262-264)CAG>AAG p.Q88K NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 88 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 AAAGTCTCCCCAGAAATCCAC 0.363 NA 9 100 2.17888e-05 2.40535e-05 0.006214 1 0 CFC1B 653275 broad.mit.edu 37 2 131356263 131356263 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:131356263C>T uc002tro.1 - 3 590 c.199G>A c.(199-201)GGC>AGC p.G67S NM_001079530 NP_001072998 P0CG36 CFC1B_HUMAN cripto, FRL-1, cryptic family 1B 67 gastrulation extracellular region 0 Colorectal(110;0.1) GGCCCCCAGCCCTCGGCGCTC 0.632 NA 19 53 0 0 0.002836 0 0 FAM123C 205147 broad.mit.edu 37 2 131521517 131521517 + Silent SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:131521517A>T uc002trw.2 + 2 2062 c.1872A>T c.(1870-1872)ACA>ACT p.T624T FAM123C_uc010fmv.2_Silent_p.T624T|FAM123C_uc010fms.1_Silent_p.T624T|FAM123C_uc010fmt.1_Silent_p.T624T|FAM123C_uc010fmu.1_Silent_p.T624T NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 624 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CTTCGACAACAGATACTTCCG 0.582 NA 17 35 0 0 0.010504 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131796570 131796570 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:131796570G>A uc002tsa.1 + 6 1232 c.712G>A c.(712-714)GAT>AAT p.D238N ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.D238N|ARHGEF4_uc010fmx.1_Missense_Mutation_p.D238N|ARHGEF4_uc002tsc.1_5'Flank NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 238 SH3. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CCGGGTCGCCGATGGCGAGGG 0.592 NA 4 36 0 0 0.001168 0 0 TUBA3D 113457 broad.mit.edu 37 2 132240245 132240245 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:132240245C>G uc002tsu.3 + 5 1284 c.1177C>G c.(1177-1179)CAT>GAT p.H393D NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 393 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) CCGCCTGGACCATAAGTTCGA 0.652 Ovarian(137;2059 2432 35543 39401) NA 26 172 0 0 0.005443 0 0 R3HDM1 23518 broad.mit.edu 37 2 136389479 136389479 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:136389479A>G uc002tuo.2 + 9 976 c.606A>G c.(604-606)CTA>CTG p.L202L R3HDM1_uc010fni.2_Silent_p.L200L|R3HDM1_uc002tup.2_Silent_p.L146L|R3HDM1_uc010zbh.1_Silent_p.L34L NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 202 R3H. nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) ATAGGATGCTATTACACAGAG 0.393 NA 27 149 0 0 0.008361 0 0 MCM6 4175 broad.mit.edu 37 2 136609035 136609035 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:136609035C>A uc002tuw.2 - 13 1930 c.1854G>T c.(1852-1854)GTG>GTT p.V618V NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 618 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) CAAGCTGTCGCACTGTAATCC 0.458 Ovarian(196;141 2104 8848 24991 25939) NA 27 18 1.74807e-11 2.21305e-11 0.002096 1 0 LRP1B 53353 broad.mit.edu 37 2 141762928 141762928 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:141762928C>A uc002tvj.1 - 15 3451 c.2479G>T c.(2479-2481)GAT>TAT p.D827Y LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 827 Extracellular (Potential).|EGF-like 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCATTTTCATCCAAAAGTTGA 0.428 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 7 44 2.0095e-06 2.27053e-06 0.001984 1 0 ARHGAP15 55843 broad.mit.edu 37 2 143913201 143913201 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:143913201G>T uc002tvm.3 + 2 293 c.142G>T c.(142-144)GAT>TAT p.D48Y ARHGAP15_uc010zbl.1_Missense_Mutation_p.D48Y NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 48 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) GATCCTCACCGATGTCGGGAA 0.423 NA 22 59 2.27525e-19 3.23342e-19 0.003954 1 0 RIF1 55183 broad.mit.edu 37 2 152319895 152319895 + Silent SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:152319895A>C uc002txm.2 + 30 3991 c.3861A>C c.(3859-3861)TCA>TCC p.S1287S RIF1_uc002txl.2_Silent_p.S1287S|RIF1_uc002txn.2_Silent_p.S1287S|RIF1_uc002txo.2_Silent_p.S1287S|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1287 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) CTAAGAGATCAAGCCGGAGAG 0.378 NA 7 80 0 0 0.004482 0 0 NEB 4703 broad.mit.edu 37 2 152487259 152487259 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:152487259C>A uc010fnx.2 - 63 9155 c.8964G>T c.(8962-8964)TTG>TTT p.L2988F NEB_uc002txu.2_Missense_Mutation_p.L335F NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2988 Nebulin 81. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTGCCTTGCCAACATAATCT 0.398 NA 3 11 0.00909568 0.00941286 0.009096 1 0 NEB 4703 broad.mit.edu 37 2 152506830 152506830 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:152506830C>G uc010fnx.2 - 54 7482 c.7291G>C c.(7291-7293)GAG>CAG p.E2431Q NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2431 Nebulin 65. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTTTCTGCCTCTAAAGAACCC 0.453 NA 18 74 0 0 0.00278 0 0 TANC1 85461 broad.mit.edu 37 2 160007013 160007013 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:160007013G>A uc002uag.2 + 7 902 c.628G>A c.(628-630)GAG>AAG p.E210K TANC1_uc010fol.1_Intron|TANC1_uc010zcm.1_Missense_Mutation_p.E209K|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 210 Ser-rich. cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AAGTCCCTGTGAGACCATTAG 0.502 NA 11 87 0 0 0.000978 0 0 DPP4 1803 broad.mit.edu 37 2 162894883 162894883 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:162894883G>A uc002ubz.2 - 8 1103 c.542C>T c.(541-543)CCA>CTA p.P181L DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 181 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) TCTGTAACTTGGTAAATTTGG 0.289 NA 5 47 0 0 0.000602 0 0 GCG 2641 broad.mit.edu 37 2 163003990 163003990 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:163003990C>A uc002ucc.2 - 3 226 c.127G>T c.(127-129)GAT>TAT p.D43Y NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 43 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) TGATCAGGATCACTGAGTGGG 0.483 NA 47 262 3.10202e-16 4.25842e-16 0.00361 1 0 KCNH7 90134 broad.mit.edu 37 2 163360955 163360955 + Nonsense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:163360955G>A uc002uch.1 - 6 1338 c.1126C>T c.(1126-1128)CAG>TAG p.Q376* KCNH7_uc002uci.2_Nonsense_Mutation_p.Q369* NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 376 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TGTCCTACCTGGGTCACTTTC 0.358 GBM(196;1492 2208 17507 24132 45496) NA 23 119 0 0 0.00632 0 0 TTC21B 79809 broad.mit.edu 37 2 166769059 166769059 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:166769059C>A uc002udk.2 - 17 2420 c.2287G>T c.(2287-2289)GGC>TGC p.G763C NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 763 TPR 10. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 AGTGCTTTGCCCATTTTGCTT 0.363 NA 15 194 3.45872e-05 3.80572e-05 0.004007 1 0 STK39 27347 broad.mit.edu 37 2 168921829 168921829 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:168921829C>A uc002uea.2 - 13 1465 c.1305G>T c.(1303-1305)CAG>CAT p.Q435H NM_013233 NP_037365 Q9UEW8 STK39_HUMAN serine threonine kinase 39 (STE20/SPS1 homolog, 435 response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 AGAAACATACCTGAGAGTCGT 0.453 NA 91 77 4.00015e-43 6.38631e-43 0.00361 1 0 SSB 6741 broad.mit.edu 37 2 170657490 170657490 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:170657490A>T uc002ufk.2 + 2 127 c.20A>T c.(19-21)AAT>ATT p.N7I SSB_uc002ufl.2_Missense_Mutation_p.N7I|SSB_uc002ufm.2_Missense_Mutation_p.N7I NM_003142 NP_003133 P05455 LA_HUMAN autoantigen La 7 HTH La-type RNA-binding. histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding skin(3)|pancreas(1) 4 AATGGTGATAATGAAAAGATG 0.328 NA 28 76 0 0 0.004878 0 0 GORASP2 26003 broad.mit.edu 37 2 171812965 171812965 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:171812965A>T uc002ugk.2 + 7 859 c.719A>T c.(718-720)AAT>ATT p.N240I GORASP2_uc002ugj.2_Missense_Mutation_p.N172I|GORASP2_uc010zdl.1_Missense_Mutation_p.N252I|GORASP2_uc010zdm.1_Missense_Mutation_p.N196I|GORASP2_uc002ugl.2_Missense_Mutation_p.N172I|GORASP2_uc002ugm.2_Missense_Mutation_p.N22I NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2 240 Golgi membrane breast(1)|central_nervous_system(1) 2 TCCTCAGTTAATCCCCCGTCT 0.388 NA 9 73 0 0 0.008291 0 0 SP3 6670 broad.mit.edu 37 2 174820238 174820238 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:174820238G>C uc002uig.2 - 4 1166 c.1002C>G c.(1000-1002)TCC>TCG p.S334S SP3_uc002uie.2_Silent_p.S266S|SP3_uc002uif.2_Silent_p.S281S|SP3_uc010zel.1_Silent_p.S331S NM_003111 NP_003102 Q02447 SP3_HUMAN Sp3 transcription factor isoform 1 334 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.185) GTGATGAAGAGGATGTTGGCA 0.378 NA 23 144 0 0 0.002445 0 0 CHRNA1 1134 broad.mit.edu 37 2 175614771 175614771 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:175614771A>G uc002ujd.2 - 8 1058 c.980T>C c.(979-981)ATG>ACG p.M327T uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.M302T NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 327 Helical. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 GACGAACACCATGGTGAACAG 0.527 NA 19 125 0 0 0.010504 0 0 MTX2 10651 broad.mit.edu 37 2 177134358 177134358 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:177134358A>G uc002ukx.2 + 1 236 c.1A>G c.(1-3)ATG>GTG p.M1V MTX2_uc002ukw.2_5'UTR NM_006554 NP_006545 O75431 MTX2_HUMAN metaxin 2 1 protein targeting to mitochondrion mitochondrial outer membrane ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181) CCCAGCCGACATGTCTCTAGT 0.716 NA 5 2 0 0 0.006214 0 0 PRKRA 8575 broad.mit.edu 37 2 179315099 179315099 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:179315099C>T uc002umf.2 - 2 306 c.105G>A c.(103-105)CCG>CCA p.P35P PRKRA_uc002umd.2_Silent_p.P10P|PRKRA_uc002ume.2_Silent_p.P24P|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank NM_003690 NP_003681 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double 35 Sufficient for self-association and interaction with TARBP2.|DRBM 1. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) ATACCTGAATCGGTGTTTTCC 0.428 Melanoma(200;68 3001 23825 48764) NA 31 345 0 0 0.004878 0 0 TTN 7273 broad.mit.edu 37 2 179414326 179414326 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:179414326G>A uc010zfg.1 - 287 84643 c.84419C>T c.(84418-84420)TCT>TTT p.S28140F uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21835F|TTN_uc010zfi.1_Missense_Mutation_p.S21768F|TTN_uc010zfj.1_Missense_Mutation_p.S21643F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29067 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) CACTGGATCAGAATCAAGTGG 0.378 NA 20 154 0 0 0.00278 0 0 TTN 7273 broad.mit.edu 37 2 179434805 179434805 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:179434805T>C uc010zfg.1 - 275 68574 c.68350A>G c.(68350-68352)ACA>GCA p.T22784A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T16479A|TTN_uc010zfi.1_Missense_Mutation_p.T16412A|TTN_uc010zfj.1_Missense_Mutation_p.T16287A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23711 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) TGGCATCTTGTCCATCTAATG 0.428 NA 11 54 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179437740 179437740 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:179437740G>T uc010zfg.1 - 275 65639 c.65415C>A c.(65413-65415)GTC>GTA p.V21805V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V15500V|TTN_uc010zfi.1_Silent_p.V15433V|TTN_uc010zfj.1_Silent_p.V15308V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22732 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) CTGGTGGAGTGACAATCTGCC 0.448 NA 8 29 2.27111e-07 2.61891e-07 0.001368 1 0 TTN 7273 broad.mit.edu 37 2 179600657 179600657 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:179600657G>T uc010zfg.1 - 47 11008 c.10784C>A c.(10783-10785)CCT>CAT p.P3595H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P256H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4522 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) CCTCCAGTTAGGTGAAGGTGA 0.438 NA 23 70 1.61788e-16 2.22403e-16 0.002445 1 0 TTN 7273 broad.mit.edu 37 2 179638309 179638309 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:179638309G>C uc010zfg.1 - 32 7698 c.7474C>G c.(7474-7476)CAG>GAG p.Q2492E TTN_uc010zfh.1_Missense_Mutation_p.Q2446E|TTN_uc010zfi.1_Missense_Mutation_p.Q2446E|TTN_uc010zfj.1_Missense_Mutation_p.Q2446E|TTN_uc002unb.2_Missense_Mutation_p.Q2492E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2492 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) ACAATGGCCTGTACACGGTCA 0.443 NA 13 98 0 0 0.003163 0 0 CWC22 57703 broad.mit.edu 37 2 180818938 180818938 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:180818938T>C uc010frh.1 - 16 1983 c.1683A>G c.(1681-1683)CCA>CCG p.P561P CWC22_uc002uno.2_Silent_p.P83P|CWC22_uc002unp.2_Silent_p.P561P NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 561 MI. catalytic step 2 spliceosome protein binding|RNA binding 0 TTACACTCCATGGAAGTGAAT 0.343 NA 14 41 0 0 0.00499 0 0 NEUROD1 4760 broad.mit.edu 37 2 182542546 182542546 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:182542546C>A uc002uof.2 - 2 1278 c.1042G>T c.(1042-1044)GCC>TCC p.A348S CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 348 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTGAGCTGGGCACTCATGACT 0.493 NA 59 120 1.7104e-27 2.59908e-27 0.00361 1 0 ZNF804A 91752 broad.mit.edu 37 2 185802271 185802271 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:185802271A>C uc002uph.2 + 4 2742 c.2148A>C c.(2146-2148)TTA>TTC p.L716F NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 716 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AACATAATTTAACATATTCTA 0.313 NA 4 32 0 0 0.009096 0 0 COL3A1 1281 broad.mit.edu 37 2 189876385 189876385 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:189876385T>C uc002uqj.1 + 51 4403 c.4286T>C c.(4285-4287)TTT>TCT p.F1429S NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1429 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAAACAGTCTTTGAATATCGA 0.403 NA 20 83 0 0 0.005443 0 0 COL5A2 1290 broad.mit.edu 37 2 189909940 189909940 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:189909940C>G uc002uqk.2 - 47 3603 c.3328G>C c.(3328-3330)GGA>CGA p.G1110R COL5A2_uc010frx.2_Missense_Mutation_p.G686R NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1110 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) CCAGGTGGTCCTATAGGACCC 0.323 NA 13 18 0 0 0.007413 0 0 DNAH7 56171 broad.mit.edu 37 2 196865601 196865601 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:196865601C>T uc002utj.3 - 12 1281 c.1180G>A c.(1180-1182)GTT>ATT p.V394I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 394 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AAAGCTCTAACAGAATCCTGC 0.333 NA 18 42 0 0 0.007413 0 0 HECW2 57520 broad.mit.edu 37 2 197143300 197143300 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:197143300C>A uc002utm.1 - 15 3270 c.3087G>T c.(3085-3087)CTG>CTT p.L1029L HECW2_uc002utl.1_Silent_p.L673L NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1029 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GCCGATGAACCAGCGCACTTG 0.532 NA 28 74 7.38237e-10 9.08391e-10 0.00632 1 0 BMPR2 659 broad.mit.edu 37 2 203424452 203424452 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:203424452C>T uc002uzf.3 + 13 4048 c.2900C>T c.(2899-2901)TCA>TTA p.S967L BMPR2_uc010ftr.2_3'UTR NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 967 Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 AAATCAGGATCAGGTGAAAAG 0.428 NA 13 25 0 0 0.001855 0 0 BMPR2 659 broad.mit.edu 37 2 203424547 203424547 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:203424547G>T uc002uzf.3 + 13 4143 c.2995G>T c.(2995-2997)GAA>TAA p.E999* BMPR2_uc010ftr.2_3'UTR NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 999 Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 GCTGGACTGTGAAGTCAACAA 0.483 NA 17 51 4.35082e-09 5.23863e-09 0.010504 1 0 UNC80 285175 broad.mit.edu 37 2 210642157 210642157 + Silent SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:210642157A>T uc010zjc.1 + 4 554 c.474A>T c.(472-474)CCA>CCT p.P158P UNC80_uc002vdj.1_Silent_p.P158P NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 158 integral to membrane 0 AGGGTTCTCCAGGGCAGCCTT 0.527 NA 31 25 0 0 0.009535 0 0 CPS1 1373 broad.mit.edu 37 2 211454856 211454856 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:211454856C>T uc002vee.3 + 8 870 c.738C>T c.(736-738)CCC>CCT p.P246P CPS1_uc010fur.2_Silent_p.P252P NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 246 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ACTTAGTTCCCTGGAACCATG 0.423 NA 42 172 0 0 0.00361 0 0 CPS1 1373 broad.mit.edu 37 2 211504764 211504764 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:211504764C>A uc002vee.3 + 24 3072 c.2940C>A c.(2938-2940)GGC>GGA p.G980G CPS1_uc010fur.2_Silent_p.G986G|CPS1_uc010fus.2_Silent_p.G529G NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 980 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGGTGCTAGGCTGTGGTCCAT 0.224 NA 26 70 4.65686e-17 6.44551e-17 0.003755 1 0 ERBB4 2066 broad.mit.edu 37 2 212295709 212295709 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:212295709C>G uc002veg.1 - 21 2702 c.2604G>C c.(2602-2604)TTG>TTC p.L868F ERBB4_uc002veh.1_Missense_Mutation_p.L868F|ERBB4_uc010zji.1_Missense_Mutation_p.L858F|ERBB4_uc010zjj.1_Missense_Mutation_p.L858F NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 868 Protein kinase.|Cytoplasmic (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) CATCTCCTTCCAAGAGTCTGG 0.398 NA TSP Lung(8;0.080) 15 90 0 0 0.008871 0 0 ERBB4 2066 broad.mit.edu 37 2 212568860 212568860 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:212568860G>T uc002veg.1 - 11 1356 c.1258C>A c.(1258-1260)CTG>ATG p.L420M ERBB4_uc002veh.1_Missense_Mutation_p.L420M|ERBB4_uc010zji.1_Missense_Mutation_p.L420M|ERBB4_uc010zjj.1_Missense_Mutation_p.L420M|ERBB4_uc010fut.1_Missense_Mutation_p.L420M NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 420 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) ATGGTCACCAGGTTAGAAAAA 0.393 NA TSP Lung(8;0.080) 9 90 9.05144e-12 1.1546e-11 0.001855 1 0 CRYBA2 1412 broad.mit.edu 37 2 219855051 219855051 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:219855051C>G uc002vjj.1 - 5 552 c.517G>C c.(517-519)GAG>CAG p.E173Q CRYBA2_uc002vjk.1_Missense_Mutation_p.E173Q NM_057094 NP_476435 P53672 CRBA2_HUMAN crystallin, beta A2 173 Beta/gamma crystallin 'Greek key' 4. structural constituent of eye lens 0 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTACAGAACTCTCCGCTGTGC 0.632 NA 12 81 0 0 0.00245 0 0 PTPRN 5798 broad.mit.edu 37 2 220162135 220162135 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:220162135C>A uc002vkz.2 - 14 1997 c.1908G>T c.(1906-1908)ATG>ATT p.M636I PTPRN_uc010zlc.1_Missense_Mutation_p.M546I|PTPRN_uc002vla.2_Missense_Mutation_p.M607I NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 636 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) ACTTCGTGGCCATGTGCTGGC 0.612 NA 51 41 4.33383e-22 6.34664e-22 0.00361 1 0 STK11IP 114790 broad.mit.edu 37 2 220473406 220473406 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:220473406G>A uc002vml.2 + 15 1781 c.1738G>A c.(1738-1740)GTG>ATG p.V580M STK11IP_uc010zll.1_Missense_Mutation_p.V537M|STK11IP_uc002vmm.1_Missense_Mutation_p.V569M NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 580 Glu-rich. protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGTTTGAGGTGGAACTCCA 0.642 NA 7 25 0 0 0.00308 0 0 SLC4A3 6508 broad.mit.edu 37 2 220505639 220505639 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:220505639G>T uc002vmp.3 + 22 3845 c.3576G>T c.(3574-3576)AGG>AGT p.R1192S SLC4A3_uc002vmo.3_Missense_Mutation_p.R1219S|SLC4A3_uc010fwm.2_Missense_Mutation_p.R742S NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 1192 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCCTCTGAGGCATTGCCTTC 0.607 NA 17 60 1.67942e-08 2.01012e-08 0.006122 1 0 SERPINE2 5270 broad.mit.edu 37 2 224866523 224866523 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:224866523G>T uc002vnu.2 - 2 338 c.95C>A c.(94-96)TCC>TAC p.S32Y SERPINE2_uc002vnt.2_Missense_Mutation_p.S32Y|SERPINE2_uc010zlr.1_Missense_Mutation_p.S44Y|SERPINE2_uc002vnv.2_Missense_Mutation_p.S32Y NM_006216 NP_006207 P07093 GDN_HUMAN plasminogen activator inhibitor type 1, member 2 32 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|ovary(1)|central_nervous_system(1) 4 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) CCCCGTGTTGGAGCCTAGTTC 0.547 NA 23 133 3.08376e-08 3.65631e-08 0.00333 1 0 DOCK10 55619 broad.mit.edu 37 2 225635044 225635044 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:225635044G>T uc010fwz.1 - 55 6567 c.6328C>A c.(6328-6330)CAG>AAG p.Q2110K DOCK10_uc002vob.2_Missense_Mutation_p.Q2104K|DOCK10_uc002voa.2_Missense_Mutation_p.Q766K NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 2110 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TCAAGGGCCTGCCCACATGCA 0.507 NA 8 12 1.08611e-07 1.26254e-07 0.000978 1 0 KIAA1486 57624 broad.mit.edu 37 2 226447034 226447034 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:226447034G>T uc002voe.2 + 4 1076 c.901G>T c.(901-903)GTG>TTG p.V301L KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.V71L NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 301 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) TACTCCCACGGTGCCTGACTT 0.572 NA 14 64 1.3612e-06 1.55017e-06 0.003163 1 0 IRS1 3667 broad.mit.edu 37 2 227663346 227663346 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:227663346C>T uc002voh.3 - 1 161 c.109G>A c.(109-111)GAG>AAG p.E37K NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 37 PH.|Mediates interaction with PHIP (By similarity). fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CCCCCAGCCTCGCTGGCCGCG 0.647 NA 12 75 0 0 0.003163 0 0 COL4A4 1286 broad.mit.edu 37 2 227953497 227953497 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:227953497T>C uc010zlt.1 - 22 2149 c.1495A>G c.(1495-1497)ATG>GTG p.M499V NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 499 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGGGGCCCATGGGTCCAGGC 0.552 NA 13 63 0 0 0.00499 0 0 TRIP12 9320 broad.mit.edu 37 2 230633405 230633405 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:230633405G>A uc002vpw.1 - 40 5818 c.5709C>T c.(5707-5709)CTC>CTT p.L1903L TRIP12_uc002vpx.1_Silent_p.L1951L|TRIP12_uc002vpy.1_Silent_p.L1633L NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1903 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CAAAACTACTGAGAATCTCAA 0.373 NA 6 32 0 0 0.001984 0 0 ALPP 250 broad.mit.edu 37 2 233245181 233245181 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:233245181C>A uc002vsq.2 + 7 1009 c.844C>A c.(844-846)CCG>ACG p.P282T ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 282 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TTCCCTGGACCCGTCTGTGAC 0.637 NA 22 91 8.4185e-14 1.11327e-13 0.002445 1 0 ECEL1 9427 broad.mit.edu 37 2 233349546 233349546 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:233349546C>A uc002vsv.2 - 5 1229 c.1024G>T c.(1024-1026)GTG>TTG p.V342L ECEL1_uc010fya.1_Missense_Mutation_p.V342L|ECEL1_uc010fyb.1_Missense_Mutation_p.V49L NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 342 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCCAGCGTCACCTTGTTGTAC 0.602 NA 20 113 2.61193e-14 3.47225e-14 0.009535 1 0 CHRNG 1146 broad.mit.edu 37 2 233409292 233409292 + Splice_Site SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:233409292T>G uc002vsx.1 + 10 1270 c.1249_splice c.e10+2 p.E417_splice CHRNG_uc010fye.1_Splice_Site_p.E365_splice NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) AGAAGCTAGGTGAGACACACC 0.662 NA 7 29 0 0 0.004482 0 0 GIGYF2 26058 broad.mit.edu 37 2 233655812 233655812 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:233655812A>G uc002vti.3 + 13 1362 c.1025A>G c.(1024-1026)AAT>AGT p.N342S GIGYF2_uc010zmj.1_Missense_Mutation_p.N342S|GIGYF2_uc002vtg.2_Missense_Mutation_p.N336S|GIGYF2_uc002vtj.3_Missense_Mutation_p.N364S|GIGYF2_uc002vtk.3_Missense_Mutation_p.N342S|GIGYF2_uc002vth.3_Missense_Mutation_p.N336S|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.N173S NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 342 cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GGTAGCCATAATGAAGAGGCC 0.468 NA 13 20 0 0 0.003163 0 0 USP40 55230 broad.mit.edu 37 2 234442344 234442344 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:234442344C>A uc010zmr.1 - 10 1285 c.1285G>T c.(1285-1287)GCT>TCT p.A429S USP40_uc010zmt.1_Missense_Mutation_p.A73S NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN ubiquitin thioesterase 40 417 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TCAGACTCAGCCTGGAGAGAA 0.403 NA 6 25 3.59834e-05 3.95073e-05 0.001168 1 0 UGT1A3 54659 broad.mit.edu 37 2 234637790 234637790 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:234637790G>T uc002vuy.2 + 1 18 c.18G>T c.(16-18)CAG>CAT p.Q6H UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.Q6H NM_019093 NP_061966 P35503 UD13_HUMAN UDP glycosyltransferase 1 family, polypeptide A3 6 flavonoid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CAGGACTCCAGGTTCCCCTGC 0.572 NA OREG0003835 type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 82 0.000151284 0.000164489 0.001855 1 0 DNAJB3 414061 broad.mit.edu 37 2 234652454 234652454 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:234652454C>A uc002vuz.2 - 1 208 c.109G>T c.(109-111)GAG>TAG p.E37* UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron NM_001001394 NP_001001394 Q8WWF6 DNJB3_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 3 37 J. protein folding heat shock protein binding|unfolded protein binding 0 TCCTTGTTCTCAGGGTTTTTG 0.597 NA 25 122 1.80694e-10 2.2481e-10 0.009535 1 0 COL6A3 1293 broad.mit.edu 37 2 238270446 238270446 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:238270446C>A uc002vwl.2 - 15 6377 c.6092G>T c.(6091-6093)GGG>GTG p.G2031V COL6A3_uc002vwo.2_Missense_Mutation_p.G1825V|COL6A3_uc010znj.1_Missense_Mutation_p.G1424V NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2031 Nonhelical region. 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) GCAGGGAACCCCACAGCAAGC 0.537 NA 31 55 6.97489e-18 9.77453e-18 0.004878 1 0 COL6A3 1293 broad.mit.edu 37 2 238275874 238275874 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:238275874C>A uc002vwl.2 - 11 5241 c.4956G>T c.(4954-4956)AGG>AGT p.R1652S COL6A3_uc002vwo.2_Missense_Mutation_p.R1446S|COL6A3_uc010znj.1_Missense_Mutation_p.R1045S NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1652 VWFA 9.|Nonhelical region. 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) GGAAACTGTCCCTCCTGAAGT 0.433 NA 14 19 1.15088e-07 1.33475e-07 0.004007 1 0 KLHL30 377007 broad.mit.edu 37 2 239057733 239057733 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr2:239057733C>T uc002vxr.1 + 6 1404 c.1371C>T c.(1369-1371)CTC>CTT p.L457L NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN kelch-like 30 475 Kelch 5. 0 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGCTCTACCTCATTGGGGACA 0.657 NA 6 26 0 0 0.001984 0 0 SOX12 6666 broad.mit.edu 37 20 307448 307448 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:307448G>A uc002wdh.2 + 1 1210 c.880G>A c.(880-882)GAG>AAG p.E294K NM_006943 NP_008874 O15370 SOX12_HUMAN SRY (sex determining region Y)-box 12 294 cell fate commitment|spinal cord development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding 0 all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CTGCACCCCCGAGGTTACCGA 0.697 NA 11 55 0 0 0.00245 0 0 ZNF343 79175 broad.mit.edu 37 20 2463909 2463909 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:2463909G>A uc002wge.1 - 6 2186 c.1698C>T c.(1696-1698)GTC>GTT p.V566V ZNF343_uc010gao.1_Silent_p.V566V|ZNF343_uc002wgd.1_Silent_p.V476V NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 566 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCCTCTGGTGGACAAGGAGGA 0.507 NA 6 79 0 0 0.001168 0 0 ADAM33 80332 broad.mit.edu 37 20 3653514 3653515 + Nonsense_Mutation DNP TG TG CT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:3653514_3653515TG>CT uc002wit.2 - 12 1251_1252 c.1164_1165CA>AG c.(1162-1167)TGCAGC>TGAGGC p.388_389CS>*G ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Nonsense_Mutation_p.388_389CS>*G|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Nonsense_Mutation_p.388_389CS>*G|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 388_389 Extracellular (Potential).|Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 TGGCGGCGGCTGCAGGCGCTGA 0.728 NA 21 9 0 0 0.004672 0 0 CDS2 8760 broad.mit.edu 37 20 5167438 5167438 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:5167438C>T uc002wls.2 + 10 1191 c.934C>T c.(934-936)CTG>TTG p.L312L CDS2_uc002wlr.1_Silent_p.L234L|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Silent_p.L257L|CDS2_uc010zqu.1_Silent_p.L192L|CDS2_uc002wlv.2_Silent_p.L214L|CDS2_uc010zqv.1_Intron NM_003818 NP_003809 O95674 CDS2_HUMAN phosphatidate cytidylyltransferase 2 312 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity 0 CCTGTTTCGCCTGCAGGAGTA 0.547 NA 139 44 0 0 0.00361 0 0 PLCB1 23236 broad.mit.edu 37 20 8609011 8609011 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:8609011T>A uc002wnb.2 + 4 320 c.317T>A c.(316-318)GTG>GAG p.V106E PLCB1_uc010zrb.1_Missense_Mutation_p.V5E|PLCB1_uc010gbv.1_Missense_Mutation_p.V106E|PLCB1_uc002wmz.1_Missense_Mutation_p.V106E|PLCB1_uc002wna.2_Missense_Mutation_p.V106E|PLCB1_uc002wnc.1_Missense_Mutation_p.V5E NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 106 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 ATCACAGTGGTGTATGGGCCT 0.458 NA 15 109 0 0 0.004007 0 0 C20orf26 26074 broad.mit.edu 37 20 20037345 20037345 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:20037345C>A uc002wru.2 + 2 124 c.48C>A c.(46-48)TGC>TGA p.C16* C20orf26_uc010gcw.1_Intron|C20orf26_uc010zse.1_Nonsense_Mutation_p.C16*|C20orf26_uc010zsf.1_Nonsense_Mutation_p.C16*|CRNKL1_uc002wrs.2_5'Flank|CRNKL1_uc002wrt.1_5'Flank NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 16 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TTGTTCATTGCCGAAGAACAG 0.353 NA 64 20 3.98521e-19 5.64758e-19 0.00361 1 0 C20orf26 26074 broad.mit.edu 37 20 20279030 20279030 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:20279030G>C uc002wru.2 + 25 3498 c.3422G>C c.(3421-3423)AGC>ACC p.S1141T C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1141 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GATCTCTATAGGTGAGTTGGA 0.463 NA 38 10 0 0 0.00623 0 0 SSTR4 6754 broad.mit.edu 37 20 23016324 23016324 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:23016324C>G uc002wsr.2 + 1 268 c.204C>G c.(202-204)GTC>GTG p.V68V NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 68 Helical; Name=1; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) ACGCCCTGGTCATCTTCGTGA 0.507 Esophageal Squamous(15;850 1104 16640) NA 31 183 0 0 0.005524 0 0 ZNF341 84905 broad.mit.edu 37 20 32328721 32328721 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:32328721G>T uc002wzy.2 + 2 65 c.45G>T c.(43-45)CAG>CAT p.Q15H ZNF341_uc002wzx.2_Missense_Mutation_p.Q15H|ZNF341_uc010geq.2_5'UTR|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGGACAATCAGACCGTTCTGG 0.542 NA 10 86 0.000673444 0.000717534 0.008291 1 0 DSN1 79980 broad.mit.edu 37 20 35386512 35386512 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:35386512C>A uc010gfr.2 - 8 1076 c.703G>T c.(703-705)GAG>TAG p.E235* DSN1_uc002xfz.2_Nonsense_Mutation_p.E235*|DSN1_uc002xfy.3_Nonsense_Mutation_p.E25*|DSN1_uc002xga.2_Nonsense_Mutation_p.E235*|DSN1_uc010zvs.1_Nonsense_Mutation_p.E128*|DSN1_uc002xgc.2_Nonsense_Mutation_p.E219*|DSN1_uc002xgb.2_Nonsense_Mutation_p.E219* NM_001145316 NP_001138788 Q9H410 DSN1_HUMAN DSN1, MIND kinetochore complex component, 235 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding ovary(2) 2 Myeloproliferative disorder(115;0.00874) TCTTTAGCCTCCTGCTGGTAG 0.338 NA 12 25 2.48551e-13 3.24854e-13 0.00499 1 0 R3HDML 140902 broad.mit.edu 37 20 42969876 42969877 + Missense_Mutation DNP CC CC AA TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:42969876_42969877CC>AA uc002xls.1 + 2 474_475 c.302_303CC>AA c.(301-303)GCC>GAA p.A101E NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 101 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) GAAGCCTGGGCCACCCAGTGCA 0.589 NA 27 32 0 0 0.004672 0 0 ZNF335 63925 broad.mit.edu 37 20 44592118 44592118 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:44592118C>A uc002xqw.2 - 9 1650 c.1527G>T c.(1525-1527)TCG>TCT p.S509S ZNF335_uc010zxk.1_Silent_p.S354S NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 509 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) GCACCTTGAGCGAGGACCAGC 0.627 NA 37 15 1.83081e-24 2.72461e-24 0.00361 1 0 ZNF335 63925 broad.mit.edu 37 20 44596595 44596595 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:44596595C>G uc002xqw.2 - 5 715 c.592G>C c.(592-594)GAT>CAT p.D198H ZNF335_uc010zxk.1_Missense_Mutation_p.D43H|ZNF335_uc002xqx.1_Missense_Mutation_p.D166H|ZNF335_uc002xqy.2_Missense_Mutation_p.D43H NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) GTGGGGCCATCTGCCAGGGCC 0.657 NA 8 51 0 0 0.00308 0 0 SULF2 55959 broad.mit.edu 37 20 46365657 46365657 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:46365657G>T uc002xto.2 - 3 535 c.205C>A c.(205-207)CGC>AGC p.R69S SULF2_uc002xtr.2_Missense_Mutation_p.R69S|SULF2_uc002xtq.2_Missense_Mutation_p.R69S|SULF2_uc010ghv.1_Missense_Mutation_p.R69S NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 69 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TCCATGATGCGCCGGGTCTTG 0.637 NA 28 59 1.07637e-12 1.39059e-12 0.004878 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47569250 47569250 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:47569250G>T uc002xtx.3 + 5 584 c.432G>T c.(430-432)CTG>CTT p.L144L NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 144 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGGCTCTTCTGACTGCAGTGA 0.453 Esophageal Squamous(176;1738 1974 26285 33069 35354) NA 9 74 2.80697e-09 3.38784e-09 0.000978 1 0 NFATC2 4773 broad.mit.edu 37 20 50140440 50140440 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr20:50140440C>A uc002xwd.2 - 2 560 c.340G>T c.(340-342)GAG>TAG p.E114* NFATC2_uc002xwc.2_Nonsense_Mutation_p.E114*|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Nonsense_Mutation_p.E94*|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Nonsense_Mutation_p.E94* NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 114 Calcineurin-binding. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GGAGTGATCTCGATCCGAGGG 0.716 NA 18 49 5.26018e-13 6.83959e-13 0.001882 1 0 DNMT3L 29947 broad.mit.edu 37 21 45678524 45678524 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr21:45678524T>A uc002zeg.1 - 6 882 c.398A>T c.(397-399)AAG>ATG p.K133M DNMT3L_uc002zeh.1_Missense_Mutation_p.K133M NM_175867 NP_787063 Q9UJW3 DNM3L_HUMAN cytosine-5-methyltransferase 3-like protein 133 PHD-type; atypical.|ADD. DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding skin(2) 2 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) GGCGTGCACCTTCCCCGAGGT 0.642 NA 14 20 0 0 0.007413 0 0 C21orf29 54084 broad.mit.edu 37 21 45929228 45929228 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr21:45929228C>G uc002zfe.1 - 10 1674 c.1608G>C c.(1606-1608)GAG>GAC p.E536D C21orf29_uc010gpv.1_Missense_Mutation_p.E468D NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 536 EAR 5. cell adhesion extracellular region structural molecule activity 0 GGAAGATCCTCTCCCCGATCT 0.473 NA 8 17 0 0 0.008291 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970596 45970596 + Nonsense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr21:45970596G>C uc002zfi.1 - 1 793 c.746C>G c.(745-747)TCA>TGA p.S249* C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 249 keratin filament large_intestine(1) 1 CTTTTGGCCTGAGGAAAAGCT 0.677 NA 15 75 0 0 0.00499 0 0 DIP2A 23181 broad.mit.edu 37 21 47987424 47987424 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr21:47987424G>T uc002zjo.2 + 38 4788 c.4605G>T c.(4603-4605)GTG>GTT p.V1535V DIP2A_uc011afz.1_Silent_p.V1531V|DIP2A_uc002zjs.2_Silent_p.V215V|DIP2A_uc002zjt.2_RNA NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 1535 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGGTCATCGTGGACCCAGGGG 0.632 NA 15 18 1.3612e-06 1.55017e-06 0.003163 1 0 UFD1L 7353 broad.mit.edu 37 22 19455527 19455527 + Splice_Site SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:19455527C>T uc002zpm.2 - 5 422 c.292_splice c.e5-1 p.M98_splice UFD1L_uc002zpo.2_Splice_Site_p.M98_splice|UFD1L_uc011agy.1_Splice_Site_p.M98_splice|UFD1L_uc002zpp.2_Splice_Site_p.M51_splice|UFD1L_uc010grq.2_Splice_Site_p.M51_splice NM_005659 NP_005650 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1-like isoform A skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity 0 Colorectal(54;0.0993) TCTGCATCATCTGAAAGGAAG 0.537 NA 4 35 0 0 0.009096 0 0 SLC7A4 6545 broad.mit.edu 37 22 21385387 21385388 + Missense_Mutation DNP CC CC AT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:21385387_21385388CC>AT uc002zud.2 - 2 782_783 c.714_715GG>AT c.(712-717)ATGGCC>ATATCC p.238_239MA>IS SLC7A4_uc002zue.2_Missense_Mutation_p.238_239MA>IS NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 238_239 Helical; (Potential). cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GCAGTGCCGGCCATGACGCCGG 0.614 NA 8 16 0 0 0.004672 0 0 CCDC116 164592 broad.mit.edu 37 22 21991024 21991024 + Missense_Mutation SNP G G C rs143471938 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:21991024G>C uc002zve.2 + 5 1600 c.1507G>C c.(1507-1509)GAG>CAG p.E503Q NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 503 ovary(1)|skin(1) 2 Colorectal(54;0.105) GCGTAAACTGGAGGAGTCCAA 0.632 NA 8 52 0 0 0.000978 0 0 MYO18B 84700 broad.mit.edu 37 22 26239702 26239702 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:26239702G>T uc003abz.1 + 18 3459 c.3209G>T c.(3208-3210)GGG>GTG p.G1070V MYO18B_uc003aca.1_Missense_Mutation_p.G951V|MYO18B_uc010guy.1_Missense_Mutation_p.G952V|MYO18B_uc010guz.1_Missense_Mutation_p.G951V|MYO18B_uc011aka.1_Missense_Mutation_p.G224V|MYO18B_uc011akb.1_Missense_Mutation_p.G583V NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1070 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CTGTTTCCAGGGTCCTCTGCC 0.572 NA 87 45 3.46703e-50 5.60614e-50 0.00361 1 0 MN1 4330 broad.mit.edu 37 22 28195093 28195093 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:28195093C>A uc003adj.2 - 1 2394 c.1439G>T c.(1438-1440)GGC>GTC p.G480V NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 480 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 ATCCAGAGCGCCGTTGTGCAT 0.682 NA T ETV6 AML|meningioma 4 19 0.00909568 0.00941286 0.009096 1 0 AP1B1 162 broad.mit.edu 37 22 29726681 29726681 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:29726681C>T uc003afj.2 - 20 2726 c.2542G>A c.(2542-2544)GCC>ACC p.A848T AP1B1_uc003afi.2_Missense_Mutation_p.A841T|AP1B1_uc003afk.2_Missense_Mutation_p.A841T|AP1B1_uc003afl.2_Missense_Mutation_p.A821T|AP1B1_uc003afh.2_Missense_Mutation_p.A45T|AP1B1_uc011ako.1_Missense_Mutation_p.A401T NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 848 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 TTCCATGTGGCCAGGAACATC 0.612 NA 10 24 0 0 0.001368 0 0 SYN3 8224 broad.mit.edu 37 22 33402572 33402572 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:33402572G>C uc003amx.2 - 1 235 c.76C>G c.(76-78)CAA>GAA p.Q26E SYN3_uc003amy.2_Missense_Mutation_p.Q26E|SYN3_uc003amz.2_Missense_Mutation_p.Q26E NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 26 A. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 TCTGGGCGTTGCAGGTCCGTC 0.602 NA 50 84 0 0 0.00361 0 0 TRIOBP 11078 broad.mit.edu 37 22 38111839 38111839 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:38111839A>T uc003atr.2 + 6 797 c.526A>T c.(526-528)AGG>TGG p.R176W TRIOBP_uc003atu.2_Missense_Mutation_p.R4W|TRIOBP_uc003atq.1_Missense_Mutation_p.R176W|TRIOBP_uc003ats.1_Missense_Mutation_p.R4W NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 176 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GATGATCCCGAGGAGGCCTCG 0.622 NA 6 24 0 0 0.001984 0 0 WBP2NL 164684 broad.mit.edu 37 22 42422803 42422803 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:42422803G>A uc011ape.1 + 7 564 c.548G>A c.(547-549)GGA>GAA p.G183E WBP2NL_uc003bbt.2_Missense_Mutation_p.G183E|WBP2NL_uc011apk.1_Missense_Mutation_p.G55E|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 183 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.|2. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding ovary(2) 2 GCAGGATATGGAGCCCCACCT 0.507 NA 4 135 0 0 0.009096 0 0 NAGA 4668 broad.mit.edu 37 22 42464492 42464492 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:42464492G>A uc003bbx.2 - 3 240 c.103C>T c.(103-105)CGC>TGC p.R35C NAGA_uc003bby.2_Missense_Mutation_p.R35C|NAGA_uc003bbw.3_Missense_Mutation_p.R35C NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 35 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 CAGCGGAAGCGTTCCCAGGCC 0.587 NA 10 106 0 0 0.008291 0 0 WNT7B 7477 broad.mit.edu 37 22 46345799 46345799 + Splice_Site SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:46345799C>A uc003bgo.2 - 2 672 c.298_splice c.e2+1 p.G100_splice WNT7B_uc010haa.2_Splice_Site_p.G104_splice NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) GGCGCCCTTACCTACTCGGAG 0.637 NA 14 5 3.27435e-08 3.86864e-08 0.00245 1 0 IL17REL 400935 broad.mit.edu 37 22 50439231 50439231 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr22:50439231C>A uc003bje.1 - 5 403 c.171G>T c.(169-171)CAG>CAT p.Q57H NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 57 pancreas(1) 1 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CCCACACGCTCTGACACTGCG 0.701 NA 3 20 0.00024832 0.00026826 0.009096 1 0 CNTN4 152330 broad.mit.edu 37 3 2924894 2924894 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:2924894G>A uc003bpc.2 + 8 939 c.718G>A c.(718-720)GGA>AGA p.G240R CNTN4_uc003bpb.1_Intron|CNTN4_uc003bpd.1_Missense_Mutation_p.G240R NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 240 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GACTGCAAAAGGAGCAACGGT 0.438 NA 17 12 0 0 0.008871 0 0 LRRN1 57633 broad.mit.edu 37 3 3886635 3886635 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:3886635C>A uc003bpt.3 + 2 1071 c.310C>A c.(310-312)CAA>AAA p.Q104K SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 104 LRR 2.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AGATTTCTCCCAAAACAACTT 0.438 NA 10 26 9.05144e-12 1.1546e-11 0.001855 1 0 LRRN1 57633 broad.mit.edu 37 3 3887802 3887802 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:3887802G>A uc003bpt.3 + 2 2238 c.1477G>A c.(1477-1479)GAC>AAC p.D493N SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 493 Ig-like C2-type.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ACAAATTGAAGACTCAGGAAG 0.438 NA 11 56 0 0 0.001368 0 0 PRRT3 285368 broad.mit.edu 37 3 9991120 9991120 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:9991120C>A uc003bul.2 - 2 810 c.680G>T c.(679-681)GGT>GTT p.G227V CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Missense_Mutation_p.G227V NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 precursor 227 Extracellular (Potential). integral to membrane 0 CTCAAACCCACCCTGTCCTTC 0.607 NA 27 28 4.87955e-14 6.46974e-14 0.005443 1 0 ATP2B2 491 broad.mit.edu 37 3 10400455 10400455 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:10400455C>A uc003bvt.2 - 14 2495 c.2056G>T c.(2056-2058)GAC>TAC p.D686Y ATP2B2_uc003bvv.2_Missense_Mutation_p.D641Y|ATP2B2_uc003bvw.2_Missense_Mutation_p.D641Y|ATP2B2_uc010hdo.2_Missense_Mutation_p.D391Y NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 686 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TTGTCCCAGTCCGGCTCCGGG 0.632 Ovarian(125;1619 1709 15675 19819 38835) NA 17 53 5.45024e-15 7.34218e-15 0.00333 1 0 ATP2B2 491 broad.mit.edu 37 3 10401723 10401723 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:10401723G>T uc003bvt.2 - 13 2183 c.1744C>A c.(1744-1746)CAG>AAG p.Q582K ATP2B2_uc003bvv.2_Missense_Mutation_p.Q537K|ATP2B2_uc003bvw.2_Missense_Mutation_p.Q537K|ATP2B2_uc010hdo.2_Missense_Mutation_p.Q287K NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 582 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TCGTAGTCCTGCTTCAGGTCC 0.607 Ovarian(125;1619 1709 15675 19819 38835) NA 33 37 5.71845e-15 7.69322e-15 0.005524 1 0 NUP210 23225 broad.mit.edu 37 3 13441297 13441297 + Nonsense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:13441297G>A uc003bxv.1 - 2 315 c.232C>T c.(232-234)CAG>TAG p.Q78* NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 78 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) ACTGCCTTCTGGGAGCACTGC 0.632 NA 46 53 0 0 0.00361 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15123931 15123931 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:15123931C>T uc003bzm.1 - 9 1397 c.783G>A c.(781-783)AAG>AAA p.K261K ZFYVE20_uc010hek.1_Silent_p.K261K|ZFYVE20_uc011avn.1_Intron NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 261 Necessary for the correct targeting to endosomes. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 GCTGCTCTCTCTTGAGCAGCG 0.542 NA 11 55 0 0 0.001855 0 0 KAT2B 8850 broad.mit.edu 37 3 20161127 20161127 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:20161127C>A uc003cbq.2 + 8 1634 c.1188C>A c.(1186-1188)TAC>TAA p.Y396* NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 396 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CAATTTCATACAATTCAACCT 0.488 NA 9 51 7.48243e-07 8.56955e-07 0.006214 1 0 TGFBR2 7048 broad.mit.edu 37 3 30733001 30733001 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:30733001C>T uc003ceo.2 + 7 1996 c.1614C>T c.(1612-1614)TTC>TTT p.F538F TGFBR2_uc003cen.2_Silent_p.F563F NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 538 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 CAGAACGCTTCAGTGAGCTGG 0.587 NA 10 84 0 0 0.000978 0 0 CRTAP 10491 broad.mit.edu 37 3 33174160 33174160 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:33174160G>T uc003cfl.3 + 5 1156 c.1036G>T c.(1036-1038)GGC>TGC p.G346C CRTAP_uc010hfz.2_Missense_Mutation_p.G303C|CRTAP_uc003cfm.2_Missense_Mutation_p.G167C|CRTAP_uc003cfn.2_Missense_Mutation_p.G167C NM_006371 NP_006362 O75718 CRTAP_HUMAN cartilage associated protein precursor 346 proteinaceous extracellular matrix binding 0 GGACACTTGGGGCCTCTCGGA 0.527 NA 22 83 1.1804e-14 1.57751e-14 0.003954 1 0 TRANK1 9881 broad.mit.edu 37 3 36876324 36876324 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:36876324C>A uc003cgj.2 - 11 4112 c.3810G>T c.(3808-3810)CAG>CAT p.Q1270H NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1820 TPR 4. DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GATCAAATTCCTGAATCTGCT 0.398 NA 10 15 0.000978159 0.00104 0.000978 1 0 SCN10A 6336 broad.mit.edu 37 3 38835286 38835286 + Silent SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:38835286T>A uc003ciq.2 - 1 216 c.216A>T c.(214-216)GCA>GCT p.A72A NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 72 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CGATCAGTTCTGCTGGGAGCT 0.552 NA 65 68 0 0 0.00361 0 0 TRAK1 22906 broad.mit.edu 37 3 42133018 42133018 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:42133018C>G uc003cky.2 + 1 273 c.57C>G c.(55-57)CTC>CTG p.L19L TRAK1_uc011azh.1_Silent_p.L19L|TRAK1_uc011azi.1_Silent_p.L19L NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 19 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 TGCCAGGACTCTGCCACGGCA 0.517 GBM(44;195 884 22595 31865 41850) NA 6 33 0 0 0.00308 0 0 KBTBD5 131377 broad.mit.edu 37 3 42727389 42727389 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:42727389G>C uc003clv.1 + 1 379 c.279G>C c.(277-279)GAG>GAC p.E93D NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 93 BTB. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) ACACATCAGAGATCGCGCTGG 0.642 NA 3 47 0 0 0.009096 0 0 PTH1R 5745 broad.mit.edu 37 3 46943287 46943287 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:46943287G>A uc003cqm.2 + 13 1351 c.1148G>A c.(1147-1149)CGG>CAG p.R383Q PTH1R_uc003cqn.2_Missense_Mutation_p.R383Q NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 383 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 AATATCGTCCGGGTGCTCGCC 0.662 NA Ollier_disease_/_Maffucsyndrome 31 50 0 0 0.00623 0 0 KLHL18 23276 broad.mit.edu 37 3 47371576 47371577 + Missense_Mutation DNP GC GC TG TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:47371576_47371577GC>TG uc003crd.2 + 4 663_664 c.537_538GC>TG c.(535-540)CTGCCC>CTTGCC p.P180A KLHL18_uc003crc.2_Missense_Mutation_p.P180A|KLHL18_uc011bav.1_Missense_Mutation_p.P68A|KLHL18_uc010hjq.1_Missense_Mutation_p.P31A NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 180 BACK. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) TCCTGGCCCTGCCCTTGGAAGA 0.535 NA 29 35 0 0 0.004672 0 0 CELSR3 1951 broad.mit.edu 37 3 48693266 48693266 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:48693266C>G uc003cul.2 - 4 4925 c.4644G>C c.(4642-4644)CAG>CAC p.Q1548H CELSR3_uc003cuf.1_Missense_Mutation_p.Q1618H NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1548 Extracellular (Potential).|Laminin G-like 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCAGCCCGCTCTGCTGCACTG 0.652 NA 9 33 0 0 0.004482 0 0 QARS 5859 broad.mit.edu 37 3 49138787 49138787 + Splice_Site SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:49138787C>T uc003cvx.2 - 10 881 c.876_splice c.e10+1 p.K292_splice QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Splice_Site_p.K147_splice|QARS_uc003cvy.2_Splice_Site_p.K147_splice|QARS_uc011bce.1_Splice_Site_p.K281_splice|QARS_uc011bcf.1_Splice_Site_p.V264_splice NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) CACATGCTTACCTTGGCATAG 0.493 NA 27 37 0 0 0.002096 0 0 RNF123 63891 broad.mit.edu 37 3 49758500 49758500 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:49758500C>T uc003cxh.2 + 38 3872 c.3786C>T c.(3784-3786)ATC>ATT p.I1262I RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 1262 RING-type. cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CCCACCCCATCTCTGCTGTGT 0.607 NA 16 85 0 0 0.002299 0 0 SLC38A3 10991 broad.mit.edu 37 3 50255703 50255703 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:50255703C>G uc003cyn.3 + 12 1078 c.937C>G c.(937-939)CCC>GCC p.P313A SLC38A3_uc011bdl.1_Missense_Mutation_p.P288A|SLC38A3_uc011bdm.1_Missense_Mutation_p.P244A NM_006841 NP_006832 Q99624 S38A3_HUMAN solute carrier family 38, member 3 313 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) TCCCCACAGCCCCTCCAAGAA 0.552 NA 28 55 0 0 0.007291 0 0 ITIH1 3697 broad.mit.edu 37 3 52818319 52818319 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:52818319G>T uc003dfs.2 + 11 1257 c.1233G>T c.(1231-1233)ACG>ACT p.T411T ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.T12T|ITIH1_uc010hmo.1_5'UTR NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 411 Hyaluronan-binding.|VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CAGGGGTGACGGACCGTTCCC 0.617 NA 6 13 1.26484e-09 1.54882e-09 0.00308 1 0 PDZRN3 23024 broad.mit.edu 37 3 73440201 73440201 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:73440201C>G uc003dpl.1 - 6 1417 c.1321G>C c.(1321-1323)GAT>CAT p.D441H PDZRN3_uc011bgh.1_Missense_Mutation_p.D98H|PDZRN3_uc010hoe.1_Missense_Mutation_p.D139H|PDZRN3_uc011bgf.1_Missense_Mutation_p.D158H|PDZRN3_uc011bgg.1_Missense_Mutation_p.D161H NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 441 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCGTCTTCATCGTCCGTCCGG 0.438 NA 31 158 0 0 0.005524 0 0 VGLL3 389136 broad.mit.edu 37 3 87027684 87027684 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:87027684A>T uc003dqn.2 - 2 759 c.395T>A c.(394-396)CTA>CAA p.L132Q NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) ACCTCGCCATAGGGGGGTTAG 0.512 NA 53 75 0 0 0.00361 0 0 OR5H1 26341 broad.mit.edu 37 3 97852446 97852446 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:97852446C>G uc011bgt.1 + 1 905 c.905C>G c.(904-906)ACA>AGA p.T302R NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GTTTCATTCACAAAAATGTTA 0.313 NA 3 48 0 0 0.009096 0 0 GPR15 2838 broad.mit.edu 37 3 98251467 98251467 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:98251467T>C uc011bgy.1 + 1 590 c.590T>C c.(589-591)CTG>CCG p.L197P NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 197 Helical; Name=5; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) ATATGGTCCCTGGTGGCCTTA 0.468 NA 7 99 0 0 0.001984 0 0 C3orf26 84319 broad.mit.edu 37 3 99891180 99891180 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:99891180G>A uc003dtl.2 + 8 743 c.600G>A c.(598-600)TTG>TTA p.L200L NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 200 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 AGGTAAAGTTGCTGGAGAAGC 0.433 NA 6 58 0 0 0.001984 0 0 IMPG2 50939 broad.mit.edu 37 3 101023064 101023064 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:101023064C>T uc003duq.1 - 3 630 c.427G>A c.(427-429)GAT>AAT p.D143N IMPG2_uc011bhe.1_Missense_Mutation_p.D6N NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 143 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GTGACTCCATCCTCACACAAA 0.413 NA 83 39 0 0 0.00361 0 0 TRAT1 50852 broad.mit.edu 37 3 108572674 108572674 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:108572674C>G uc003dxi.1 + 6 655 c.511C>G c.(511-513)CCC>GCC p.P171A TRAT1_uc010hpx.1_Missense_Mutation_p.P134A NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 171 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 TCATGATGATCCCATCAGACT 0.433 NA 44 122 0 0 0.00361 0 0 DPPA2 151871 broad.mit.edu 37 3 109028078 109028078 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:109028078T>A uc003dxo.2 - 4 528 c.281A>T c.(280-282)AAG>ATG p.K94M NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 94 SAP. nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 CCGACACACCTTATTAATGGG 0.448 NA 115 158 0 0 0.00361 0 0 ZBED2 79413 broad.mit.edu 37 3 111312970 111312970 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:111312970C>G uc003dxy.2 - 2 964 c.79G>C c.(79-81)GAG>CAG p.E27Q CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN zinc finger, BED domain containing 2 27 DNA binding|metal ion binding skin(1) 1 TCACTAATCTCTTCCTCCTCC 0.517 NA 52 55 0 0 0.00361 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432915 111432915 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:111432915C>A uc003dya.2 + 3 1392 c.806C>A c.(805-807)CCC>CAC p.P269H PLCXD2_uc003dyb.2_Missense_Mutation_p.P269H|PLCXD2_uc003dxz.2_Missense_Mutation_p.P269H NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 269 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 ATCCTCACCCCCAGAGTGAAG 0.537 NA 28 65 5.09552e-08 5.97835e-08 0.002096 1 0 HGD 3081 broad.mit.edu 37 3 120393758 120393758 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:120393758T>C uc003edw.2 - 3 536 c.166A>G c.(166-168)AAT>GAT p.N56D NM_000187 NP_000178 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 56 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding 0 GBM - Glioblastoma multiforme(114;0.158) CTTCTCTTATTGGTGCTCCGT 0.498 NA 8 193 0 0 0.006214 0 0 GATA2 2624 broad.mit.edu 37 3 128204775 128204775 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:128204775C>T uc003ekm.3 - 4 1101 c.666G>A c.(664-666)AAG>AAA p.K222K GATA2_uc003ekn.3_Silent_p.K222K|GATA2_uc003eko.2_Silent_p.K222K NM_001145661 NP_001139133 P23769 GATA2_HUMAN GATA binding protein 2 isoform 1 222 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1) 15 GBM - Glioblastoma multiforme(114;0.173) CACTTTCCATCTTCATGCTCT 0.642 NA Mis AML(CML blast transformation) 15 74 0 0 0.00499 0 0 CCDC48 79825 broad.mit.edu 37 3 128758633 128758633 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:128758633C>A uc011bkt.1 + 8 1739 c.1739C>A c.(1738-1740)CCC>CAC p.P580H NM_024768 NP_079044 Q9HA90 CCD48_HUMAN coiled-coil domain containing 48 580 0 CGGAGACAGCCCTCGGCACCA 0.667 NA 71 33 1.15098e-32 1.78119e-32 0.00361 1 0 SLCO2A1 6578 broad.mit.edu 37 3 133666128 133666128 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:133666128G>A uc003eqa.3 - 9 1541 c.1267C>T c.(1267-1269)CCA>TCA p.P423S SLCO2A1_uc003eqb.3_Missense_Mutation_p.P347S|SLCO2A1_uc011blv.1_Missense_Mutation_p.P242S NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 423 Extracellular (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 GCCACAGTTGGGGTGGAGCAT 0.483 NA 15 66 0 0 0.001882 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178588 140178588 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:140178588T>A uc003etn.2 + 7 1389 c.1199T>A c.(1198-1200)ATC>AAC p.I400N CLSTN2_uc003etm.2_Missense_Mutation_p.I400N NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 400 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 AAGGAAACCATCCTCTGCAAC 0.577 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 12 100 0 0 0.000978 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281710 140281711 + Missense_Mutation DNP GG GG TT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:140281710_140281711GG>TT uc003etn.2 + 14 2460_2461 c.2270_2271GG>TT c.(2269-2271)TGG>TTT p.W757F NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 757 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TACCGCAACTGGCGTCCGGCTT 0.559 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 14 48 0 0 0.004672 0 0 RASA2 5922 broad.mit.edu 37 3 141328870 141328870 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:141328870T>C uc003etz.1 + 23 2481 c.2481T>C c.(2479-2481)TAT>TAC p.Y827Y RASA2_uc010huq.1_Silent_p.Y831Y|RASA2_uc003eua.1_Silent_p.Y828Y|uc003eub.2_5'Flank NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 827 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 ATGAAAAATATAGGAAGAAAA 0.323 NA 50 16 0 0 0.00361 0 0 PLSCR1 5359 broad.mit.edu 37 3 146239458 146239458 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:146239458C>A uc003evx.3 - 7 999 c.611G>T c.(610-612)GGT>GTT p.G204V PLSCR1_uc003evy.3_Missense_Mutation_p.G197V|PLSCR1_uc011bnn.1_Missense_Mutation_p.G123V|PLSCR1_uc003evz.3_Intron NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 204 Cytoplasmic. phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 AATAACATAACCTATTGGTAC 0.353 NA 18 32 4.35082e-09 5.23863e-09 0.010504 1 0 RSRC1 51319 broad.mit.edu 37 3 158072675 158072675 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:158072675A>G uc003fbt.2 + 6 672 c.561A>G c.(559-561)CTA>CTG p.L187L RSRC1_uc011bou.1_Silent_p.L129L|RSRC1_uc003fbu.1_Silent_p.L187L|RSRC1_uc003fbv.2_Silent_p.L129L NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 187 Potential. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAGCCAGACTACAGCTGGTTC 0.363 NA 7 10 0 0 0.008291 0 0 SMC4 10051 broad.mit.edu 37 3 160150941 160150941 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:160150941G>A uc003fdh.2 + 23 3771 c.3658G>A c.(3658-3660)GAG>AAG p.E1220K IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.E1195K|SMC4_uc003fdj.2_Missense_Mutation_p.E1220K|SMC4_uc010hwd.2_Missense_Mutation_p.E1162K|SMC4_uc003fdl.2_Missense_Mutation_p.E923K NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 1220 Ala/Asp-rich (DA-box). cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTTCATGGATGAGATTGATGC 0.368 NA 22 133 0 0 0.00632 0 0 NCEH1 57552 broad.mit.edu 37 3 172365893 172365893 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:172365893G>T uc011bpx.1 - 2 384 c.246C>A c.(244-246)ATC>ATA p.I82I NCEH1_uc003fig.2_Silent_p.I82I|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron NM_001146276 NP_001139748 Q6PIU2 NCEH1_HUMAN arylacetamide deacetylase-like 1 isoform a 50 Lumenal (Potential). lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity 0 CCAGGTAGTGGATCAGGTTAC 0.522 NA 13 65 2.48551e-13 3.24854e-13 0.00499 1 0 ZNF639 51193 broad.mit.edu 37 3 179051405 179051405 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:179051405A>C uc003fjq.1 + 6 996 c.653A>C c.(652-654)GAC>GCC p.D218A ZNF639_uc003fjr.1_Missense_Mutation_p.D218A NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 218 C2H2-type 1. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TATTTTTCTGACTTAAAGCAG 0.378 NA 57 18 0 0 0.00361 0 0 MASP1 5648 broad.mit.edu 37 3 186969535 186969535 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:186969535C>T uc003frh.1 - 7 1230 c.898G>A c.(898-900)GAG>AAG p.E300K MASP1_uc003fri.2_Missense_Mutation_p.E300K|MASP1_uc003frj.2_Missense_Mutation_p.E269K|MASP1_uc003frk.1_Missense_Mutation_p.E300K|MASP1_uc011bse.1_Missense_Mutation_p.E274K NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 300 Sushi 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TCTGGGCACTCATTTCCTGGT 0.493 NA 8 65 0 0 0.006214 0 0 LRRC33 375387 broad.mit.edu 37 3 196386878 196386878 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr3:196386878G>T uc003fwv.2 + 3 468 c.364G>T c.(364-366)GAA>TAA p.E122* NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 122 Extracellular (Potential).|LRR 3. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) AGAGAACTACGAAGAGACGGC 0.667 NA 12 20 1.61879e-10 2.01649e-10 0.001368 1 0 SPON2 10417 broad.mit.edu 37 4 1161317 1161317 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:1161317C>T uc003gcn.3 - 5 966 c.939G>A c.(937-939)GGG>GGA p.G313G SPON2_uc003gco.3_Silent_p.G313G|SPON2_uc010ibr.2_Silent_p.G313G|SPON2_uc003gcm.1_3'UTR NM_012445 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 313 TSP type-1. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) GGCAGGGGCTCCCGTTGTTGG 0.687 NA OREG0016030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 131 0 0 0.00245 0 0 HGFAC 3083 broad.mit.edu 37 4 3447974 3447975 + Missense_Mutation DNP GG GG AT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:3447974_3447975GG>AT uc003ghc.2 + 10 1311_1312 c.1308_1309GG>AT c.(1306-1311)CTGGTC>CTATTC p.V437F HGFAC_uc010icw.2_Missense_Mutation_p.V444F NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 437 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCGGGAGCCTGGTCCACACCTG 0.698 NA 4 14 0 0 0.004672 0 0 MAN2B2 23324 broad.mit.edu 37 4 6610904 6610904 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:6610904G>A uc003gjf.1 + 12 1921 c.1885G>A c.(1885-1887)GGC>AGC p.G629S MAN2B2_uc003gje.1_Missense_Mutation_p.G629S|MAN2B2_uc011bwf.1_Missense_Mutation_p.G578S NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 629 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 TGTGAAACAGGGCCCCATTTC 0.567 NA 12 58 0 0 0.001855 0 0 TBC1D14 57533 broad.mit.edu 37 4 7002883 7002883 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:7002883G>C uc011bwg.1 + 7 1254 c.1175G>C c.(1174-1176)AGA>ACA p.R392T TBC1D14_uc003gjs.3_Missense_Mutation_p.R392T|TBC1D14_uc010idh.2_Missense_Mutation_p.R112T|TBC1D14_uc011bwh.1_Missense_Mutation_p.R5T|TBC1D14_uc003gju.3_5'UTR NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 392 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 TGGTGCTCTAGAAAAGTTCGA 0.388 NA 5 63 0 0 0.001168 0 0 ACOX3 8310 broad.mit.edu 37 4 8417721 8417721 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:8417721G>A uc010idk.2 - 3 295 c.150C>T c.(148-150)ACC>ACT p.T50T ACOX3_uc003glc.3_Silent_p.T50T|ACOX3_uc003gld.3_Silent_p.T50T|ACOX3_uc003gle.1_5'UTR NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 50 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 CTGAGAAGATGGTTTTCTGGA 0.493 NA 22 31 0 0 0.003954 0 0 CCKAR 886 broad.mit.edu 37 4 26490882 26490882 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:26490882C>T uc003gse.1 - 2 490 c.337G>A c.(337-339)GTT>ATT p.V113I NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 113 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) GTCTTGCAAACGGCGCTCCCG 0.562 NA 41 111 0 0 0.007835 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016288 38016288 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:38016288G>T uc003gtb.2 + 3 919 c.576G>T c.(574-576)CTG>CTT p.L192L TBC1D1_uc011byd.1_Silent_p.L192L|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.L63L NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 192 nucleus Rab GTPase activator activity ovary(1) 1 CGCCGGCCCTGATCGACGAGT 0.672 NA 57 97 2.50483e-33 3.88826e-33 0.00361 1 0 GABRG1 2565 broad.mit.edu 37 4 46060534 46060534 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:46060534C>T uc003gxb.2 - 6 883 c.731G>A c.(730-732)CGG>CAG p.R244Q NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 244 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AGTTGAGTTCCGTAACCCTAC 0.333 NA 32 90 0 0 0.007835 0 0 CORIN 10699 broad.mit.edu 37 4 47628443 47628443 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:47628443A>G uc003gxm.2 - 17 2387 c.2294T>C c.(2293-2295)TTA>TCA p.L765S CORIN_uc011bzf.1_Missense_Mutation_p.L626S|CORIN_uc011bzg.1_Missense_Mutation_p.L698S NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 765 Extracellular (Potential).|SRCR. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 AAGTTCATGTAAAGTGGTCCC 0.428 NA 20 356 0 0 0.010504 0 0 NIPAL1 152519 broad.mit.edu 37 4 48038107 48038107 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:48038107A>T uc003gxw.2 + 6 1217 c.1151A>T c.(1150-1152)AAT>ATT p.N384I NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 384 Cytoplasmic (Potential). integral to membrane 0 AATGAAAACAATTATGTTTTA 0.378 NA 32 105 0 0 0.004878 0 0 RASL11B 65997 broad.mit.edu 37 4 53730701 53730701 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:53730701C>G uc003gzt.2 + 3 436 c.256C>G c.(256-258)CAA>GAA p.Q86E NM_023940 NP_076429 Q9BPW5 RSLBB_HUMAN RAS-like family 11 member B 86 Small GTPase-like. small GTPase mediated signal transduction membrane GTP binding|GTPase activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0302) TCTTCAGGTTCAAGACACTCC 0.428 NA 32 170 0 0 0.004289 0 0 PDGFRA 5156 broad.mit.edu 37 4 55133802 55133802 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:55133802G>T uc003han.3 + 7 1346 c.1015G>T c.(1015-1017)GTG>TTG p.V339L PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.V233L|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 339 Ig-like C2-type 4.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGTTGTAGAGGTGCGGGCCTA 0.448 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 29 60 2.70662e-09 3.28638e-09 0.009535 1 0 EPHA5 2044 broad.mit.edu 37 4 66218759 66218759 + Splice_Site SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:66218759C>T uc003hcy.2 - 13 2491 c.2298_splice c.e13+1 p.K766_splice EPHA5_uc003hcx.2_Splice_Site_p.K698_splice|EPHA5_uc003hcz.2_Splice_Site_p.K744_splice|EPHA5_uc011cah.1_Splice_Site_p.K767_splice|EPHA5_uc011cai.1_Splice_Site_p.K745_splice|EPHA5_uc003hda.2_Splice_Site_p.K767_splice NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CCCAATCCTACCTTCAAAAAT 0.368 NA TSP Lung(17;0.13) 50 22 0 0 0.00361 0 0 Unknown 0 broad.mit.edu 37 4 69337249 69337249 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:69337249C>A uc003hdz.3 + 5 462 c.398C>A c.(397-399)ACT>AAT p.T133N NM_014058 NP_054777 transmembrane protease, serine 11E NA GATCCTGAAACTGTAGATAAA 0.358 NA 68 197 9.12251e-31 1.39888e-30 0.00361 1 0 SULT1E1 6783 broad.mit.edu 37 4 70720024 70720024 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:70720024G>T uc003heo.2 - 4 393 c.280C>A c.(280-282)CAA>AAA p.Q94K SULT1E1_uc010ihv.1_Missense_Mutation_p.Q94K NM_005420 NP_005411 P49888 ST1E1_HUMAN estrogen sulfotransferase 94 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity ovary(1) 1 TCATCTAATTGTTTTACTCCT 0.303 NA 12 35 2.27111e-07 2.61891e-07 0.001368 1 0 ODAM 54959 broad.mit.edu 37 4 71063851 71063851 + Nonsense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:71063851C>T uc003hfc.2 + 4 369 c.352C>T c.(352-354)CAG>TAG p.Q118* NM_017855 NP_060325 A1E959 ODAM_HUMAN odontogenic ameloblast-associated protein 118 Gln-rich. biomineral tissue development|odontogenesis of dentine-containing tooth fibril ovary(3)|large_intestine(1) 4 AACACCGCCTCAGACACAACC 0.488 NA 18 126 0 0 0.007413 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149349 73149349 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:73149349C>A uc003hgk.1 - 22 3159 c.3122G>T c.(3121-3123)GGT>GTT p.G1041V NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 1041 PLAC. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTTGTTATAACCTGGTATGGA 0.418 NSCLC(168;1941 2048 2918 13048 43078) NA 13 150 2.48551e-13 3.24854e-13 0.00499 1 0 SHROOM3 57619 broad.mit.edu 37 4 77357309 77357309 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:77357309G>A uc011cbx.1 + 1 1057 c.104G>A c.(103-105)GGA>GAA p.G35E NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 35 PDZ. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CTGGAGGGAGGAGCTCCCTGG 0.458 NA 34 263 0 0 0.00874 0 0 MRPL1 65008 broad.mit.edu 37 4 78830457 78830457 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:78830457A>G uc003hku.2 + 7 906 c.708A>G c.(706-708)TTA>TTG p.L236L MRPL1_uc010iji.1_Silent_p.L159L NM_020236 NP_064621 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 precursor 236 RNA binding 0 TGCTTGAATTATTTAAAAATG 0.303 NA 40 98 0 0 0.00361 0 0 SEC31A 22872 broad.mit.edu 37 4 83748590 83748590 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:83748590T>C uc003hnf.2 - 24 3387 c.3223A>G c.(3223-3225)ATG>GTG p.M1075V SEC31A_uc003hnd.2_Missense_Mutation_p.M244V|SEC31A_uc003hne.2_Missense_Mutation_p.M824V|SEC31A_uc011ccl.1_Missense_Mutation_p.M1021V|SEC31A_uc003hnl.2_Missense_Mutation_p.M922V|SEC31A_uc003hng.2_Missense_Mutation_p.M1060V|SEC31A_uc003hnh.2_Missense_Mutation_p.M1075V|SEC31A_uc003hni.2_Missense_Mutation_p.M961V|SEC31A_uc003hnj.2_Missense_Mutation_p.M1036V|SEC31A_uc011ccm.1_Missense_Mutation_p.M1055V|SEC31A_uc011ccn.1_Missense_Mutation_p.M1060V|SEC31A_uc003hnk.2_Missense_Mutation_p.M1036V|SEC31A_uc003hnm.2_Missense_Mutation_p.M1075V NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 1075 Interaction with PDCD6.|Pro-rich. 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) GATGGTGGCATGCCTGTTTGA 0.498 NA 92 29 0 0 0.00361 0 0 DMP1 1758 broad.mit.edu 37 4 88580622 88580622 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:88580622G>C uc003hqv.2 + 5 279 c.175G>C c.(175-177)GAG>CAG p.E59Q DMP1_uc003hqw.2_Intron NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 59 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) AGTTAGCTCAGAGGAACAGGT 0.348 NA 8 85 0 0 0.008291 0 0 SPP1 6696 broad.mit.edu 37 4 88902898 88902898 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:88902898T>C uc003hra.2 + 6 653 c.488T>C c.(487-489)GTG>GCG p.V163A SPP1_uc003hrb.2_Missense_Mutation_p.V136A|SPP1_uc003hrc.2_Missense_Mutation_p.V149A|SPP1_uc011cde.1_Missense_Mutation_p.V176A|SPP1_uc003hrd.2_Missense_Mutation_p.V122A NM_001040058 NP_001035147 P10451 OSTP_HUMAN secreted phosphoprotein 1 isoform a 163 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity ovary(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) GGTGATAGTGTGGTTTATGGA 0.473 NA 16 86 0 0 0.007413 0 0 MMRN1 22915 broad.mit.edu 37 4 90856810 90856810 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:90856810G>T uc003hst.2 + 6 2050 c.1979G>T c.(1978-1980)AGA>ATA p.R660I MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.R402I NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 660 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GCATCACTCAGACAGACAATG 0.358 NA 47 18 6.08268e-21 8.76775e-21 0.00361 1 0 NDST4 64579 broad.mit.edu 37 4 115997976 115997976 + Missense_Mutation SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:115997976T>G uc003ibu.2 - 2 896 c.217A>C c.(217-219)ACA>CCA p.T73P NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 73 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GTTTTGGATGTGTCAATAGGT 0.418 NA 49 25 0 0 0.00361 0 0 KIAA1109 84162 broad.mit.edu 37 4 123164214 123164214 + Nonsense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:123164214C>G uc003ieh.2 + 28 4778 c.4733C>G c.(4732-4734)TCA>TGA p.S1578* KIAA1109_uc003iek.2_Nonsense_Mutation_p.S197* NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1578 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CTTTCAGGATCAACTTCAAAG 0.303 NA 7 137 0 0 0.006214 0 0 FAT4 79633 broad.mit.edu 37 4 126241663 126241663 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:126241663G>T uc003ifj.3 + 1 4097 c.4097G>T c.(4096-4098)AGC>ATC p.S1366I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1366 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTTAGCATTAGCCCAAACACT 0.383 NA 62 107 5.44642e-36 8.54656e-36 0.00361 1 0 TTC29 83894 broad.mit.edu 37 4 147824710 147824710 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:147824710A>G uc003ikw.3 - 6 799 c.572T>C c.(571-573)CTC>CCC p.L191P TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.L217P|TTC29_uc010ipd.1_Missense_Mutation_p.L191P NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 191 TPR 1. binding 0 all_hematologic(180;0.151) TTCCTCGTAGAGAAGACCCAT 0.458 NA 7 20 0 0 0.004482 0 0 RBM46 166863 broad.mit.edu 37 4 155720326 155720326 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:155720326G>T uc003ioo.2 + 4 1185 c.1012G>T c.(1012-1014)GAG>TAG p.E338* RBM46_uc011cim.1_Nonsense_Mutation_p.E338*|RBM46_uc003iop.1_Nonsense_Mutation_p.E338* NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 338 nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) TAACAAAGAAGAGAGCCACCC 0.428 NA 6 53 2.17888e-05 2.40535e-05 0.006214 1 0 PPID 5481 broad.mit.edu 37 4 159644357 159644357 + Silent SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:159644357T>A uc003iqc.2 - 1 196 c.84A>T c.(82-84)CGA>CGT p.R28R NM_005038 NP_005029 Q08752 PPID_HUMAN peptidylprolyl isomerase D 28 PPIase cyclophilin-type. protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) TCCGCTCACCTCGCTCCCCTC 0.647 NA 31 9 0 0 0.003271 0 0 FSTL5 56884 broad.mit.edu 37 4 162402214 162402214 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:162402214G>T uc003iqh.2 - 13 2002 c.1566C>A c.(1564-1566)GAC>GAA p.D522E FSTL5_uc003iqi.2_Missense_Mutation_p.D521E|FSTL5_uc010iqv.2_Missense_Mutation_p.D512E NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 522 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) TAAGGACTCTGTCCAAAGTTG 0.343 NA 39 93 6.48837e-15 8.7058e-15 0.002522 1 0 C4orf39 152756 broad.mit.edu 37 4 165878576 165878576 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:165878576T>C uc003iqx.1 + 1 477 c.402T>C c.(400-402)CCT>CCC p.P134P TRIM61_uc003iqw.2_Intron NM_153027 NP_694572 Q96MZ4 CD039_HUMAN hypothetical protein LOC152756 134 0 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.146) GGTCCCAGCCTCTTTTTGTGA 0.572 NA 3 77 0 0 0.001168 0 0 DDX60 55601 broad.mit.edu 37 4 169146827 169146828 + Splice_Site DNP CC CC AT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:169146827_169146828CC>AT uc003irp.2 - 34 4826 c.4534_splice c.e34-1 p.V1512_splice DDX60_uc003iro.2_5'UTR NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TCAAGGAACACCTAGAAGCCGA 0.332 NA 30 15 0 0 0.004672 0 0 HAND2 9464 broad.mit.edu 37 4 174449985 174449985 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:174449985C>A uc003ith.1 - 1 1394 c.456G>T c.(454-456)ATG>ATT p.M152I NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Nonsense_Mutation_p.G118*|HAND2_uc010ire.1_Missense_Mutation_p.M152I NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 152 Helix-loop-helix motif. adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) CCAGCAGGTCCATGAGGTAGG 0.592 NA 33 71 1.07637e-12 1.39059e-12 0.004878 1 0 WDR17 116966 broad.mit.edu 37 4 177071727 177071727 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:177071727C>A uc003iuj.2 + 17 2515 c.2359C>A c.(2359-2361)CTG>ATG p.L787M WDR17_uc003iuk.2_Missense_Mutation_p.L763M|WDR17_uc003ium.3_Missense_Mutation_p.L763M|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.L6M NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 787 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTTGAAACATCTGATTAAATT 0.294 NA 10 55 5.16669e-11 6.48406e-11 0.000978 1 0 ASB5 140458 broad.mit.edu 37 4 177190244 177190244 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:177190244C>T uc003iuq.1 - 1 32 c.16G>A c.(16-18)GAA>AAA p.E6K NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 6 intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GGCCGATTTTCTTCTAACACC 0.453 NA 10 75 0 0 0.000978 0 0 ENPP6 133121 broad.mit.edu 37 4 185018460 185018460 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:185018460C>A uc003iwc.2 - 7 1197 c.1055G>T c.(1054-1056)GGA>GTA p.G352V NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 352 Extracellular (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GCCGTGCCATCCACGCTGCCA 0.567 NA 38 72 9.22156e-22 1.34459e-21 0.00361 1 0 HELT 391723 broad.mit.edu 37 4 185941818 185941818 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:185941818C>T uc011ckq.1 + 4 876 c.876C>T c.(874-876)CCC>CCT p.P292P HELT_uc011cko.1_Silent_p.P207P|HELT_uc003ixa.3_Silent_p.P206P|HELT_uc011ckp.1_Silent_p.P150P NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 292 Pro-rich. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AGCACAGCCCCTTCCTGACAC 0.736 NA 17 41 0 0 0.007413 0 0 FAM149A 25854 broad.mit.edu 37 4 187078867 187078867 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:187078867G>T uc003iyt.3 + 8 1302 c.723G>T c.(721-723)CCG>CCT p.P241P FAM149A_uc011cla.1_Silent_p.P241P|FAM149A_uc010isj.2_Silent_p.P241P|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Silent_p.P241P|FAM149A_uc010isl.2_Silent_p.P241P|FAM149A_uc011clb.1_Silent_p.P241P NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 532 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) GTCTGAACCCGCCCCAGGTCG 0.592 NA 57 21 2.23399e-28 3.40499e-28 0.00361 1 0 TRIML1 339976 broad.mit.edu 37 4 189063430 189063430 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:189063430G>A uc003izm.1 + 3 644 c.529G>A c.(529-531)GTT>ATT p.V177I TRIML1_uc003izn.1_5'Flank NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 177 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TTGTAAACAGGTTGTTGTGTC 0.343 Melanoma(31;213 1036 16579 23968 32372) NA 35 13 0 0 0.00623 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 163505 163505 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:163505C>T uc003jak.2 + 11 2300 c.2250C>T c.(2248-2250)GTC>GTT p.V750V NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 750 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) ATACTAGTGTCTTCAGCAAGG 0.567 NA 74 86 0 0 0.00361 0 0 ZDHHC11 79844 broad.mit.edu 37 5 850634 850634 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:850634G>A uc011cma.1 - 1 468 c.84C>T c.(82-84)ATC>ATT p.I28I ZDHHC11_uc003jbj.2_5'Flank NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 28 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) TCACTCTGGAGATGCGGGGCG 0.587 NA 16 115 0 0 0.007413 0 0 IRX1 79192 broad.mit.edu 37 5 3599344 3599344 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:3599344G>C uc003jde.2 + 2 334 c.282G>C c.(280-282)TCG>TCC p.S94S NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 94 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 TTCAGGGCTCGCAGTATGAAC 0.483 NA 20 16 0 0 0.004656 0 0 DNAH5 1767 broad.mit.edu 37 5 13901490 13901490 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:13901490C>A uc003jfd.2 - 14 1965 c.1923G>T c.(1921-1923)ATG>ATT p.M641I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 641 Stem (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) GGAAAAGCTGCATGGGCTGCT 0.537 NA Kartagener_syndrome 13 31 1.49906e-05 1.66214e-05 0.00245 1 0 ANKH 56172 broad.mit.edu 37 5 14769115 14769115 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:14769115C>T uc003jfm.3 - 2 613 c.282G>A c.(280-282)GGG>GGA p.G94G NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 94 Helical; (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 CAGCGATGGCCCCTGCCACCA 0.502 NA 9 67 0 0 0.004007 0 0 ANKH 56172 broad.mit.edu 37 5 14769157 14769157 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:14769157C>G uc003jfm.3 - 2 571 c.240G>C c.(238-240)AAG>AAC p.K80N NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 80 Cytoplasmic (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 TCCTGTCTCTCTTGCTGTTCA 0.572 NA 5 51 0 0 0.003163 0 0 ANKH 56172 broad.mit.edu 37 5 14769166 14769166 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:14769166C>G uc003jfm.3 - 2 562 c.231G>C c.(229-231)GTG>GTC p.V77V NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 77 Cytoplasmic (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 TCTTGCTGTTCACAAACACCA 0.577 NA 5 49 0 0 0.00245 0 0 ANKH 56172 broad.mit.edu 37 5 14769270 14769270 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:14769270C>G uc003jfm.3 - 2 458 c.127G>C c.(127-129)GAG>CAG p.E43Q NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 43 Cytoplasmic (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 ACTGCATCCTCCTTGACAGCA 0.522 NA 7 26 0 0 0.001984 0 0 CDH18 1016 broad.mit.edu 37 5 19544062 19544062 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:19544062T>A uc003jgc.2 - 8 1683 c.1306A>T c.(1306-1308)AAT>TAT p.N436Y CDH18_uc003jgd.2_Missense_Mutation_p.N436Y|CDH18_uc011cnm.1_Missense_Mutation_p.N436Y NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 436 Extracellular (Potential).|Cadherin 4. 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) GTCCCAGTATTGGCATCAATG 0.343 NA 17 16 0 0 0.006122 0 0 CDH9 1007 broad.mit.edu 37 5 26885762 26885762 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:26885762C>G uc003jgs.1 - 11 2012 c.1843G>C c.(1843-1845)GCT>CCT p.A615P CDH9_uc011cnv.1_Missense_Mutation_p.A208P NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 615 Extracellular (Potential). 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 GCAACGAGAGCTCCCGTGCTC 0.507 Melanoma(8;187 585 15745 40864 52829) NA 9 28 0 0 0.000978 0 0 RNASEN 29102 broad.mit.edu 37 5 31495439 31495439 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:31495439C>A uc003jhg.2 - 11 2068 c.1709G>T c.(1708-1710)AGA>ATA p.R570I RNASEN_uc003jhh.2_Missense_Mutation_p.R533I|RNASEN_uc003jhi.2_Missense_Mutation_p.R533I|RNASEN_uc010iui.1_Missense_Mutation_p.R493I NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 570 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 GTGGAAAAGTCTGCCAGCATT 0.373 NA 26 13 7.61165e-28 1.1584e-27 0.003755 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33891862 33891862 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:33891862G>T uc003jia.1 - 1 263 c.100C>A c.(100-102)CCG>ACG p.P34T ADAMTS12_uc010iuq.1_Missense_Mutation_p.P34T|ADAMTS12_uc003jib.1_Missense_Mutation_p.P34T NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 34 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AAGCGAACCGGGCCTGGCTGA 0.527 NA HNSCC(64;0.19) 77 48 9.37156e-40 1.48912e-39 0.00361 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41070950 41070950 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:41070950G>C uc003jmj.3 - 1 495 c.5C>G c.(4-6)ACA>AGA p.T2R NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 2 binding ovary(6)|central_nervous_system(2) 8 TGTACTAAGTGTCATGTCTTG 0.388 NA 3 5 0 0 0.009096 0 0 UTP15 84135 broad.mit.edu 37 5 72873801 72873801 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:72873801A>G uc003kcw.1 + 9 1238 c.1015A>G c.(1015-1017)ATT>GTT p.I339V UTP15_uc011cso.1_Missense_Mutation_p.I320V|UTP15_uc011csp.1_Missense_Mutation_p.I149V|UTP15_uc010ize.1_Missense_Mutation_p.I339V NM_032175 NP_115551 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, 339 rRNA processing cytoplasm|nucleolus 0 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) TCGAACCTTTATTAAAGGAAA 0.378 NA 28 21 0 0 0.002445 0 0 OTP 23440 broad.mit.edu 37 5 76926342 76926342 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:76926342G>T uc003kfg.2 - 3 873 c.725C>A c.(724-726)GCG>GAG p.A242E NM_032109 NP_115485 Q5XKR4 OTP_HUMAN orthopedia homeobox 242 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) CGGACCGGCCGCCAGGCTGCA 0.746 NA 9 5 1.08611e-07 1.26254e-07 0.000978 1 0 CMYA5 202333 broad.mit.edu 37 5 79030362 79030362 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:79030362G>T uc003kgc.2 + 2 5846 c.5774G>T c.(5773-5775)AGG>ATG p.R1925M NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1925 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AATGAGCTGAGGCCAGGGCAG 0.493 NA 9 12 3.27435e-08 3.86864e-08 0.00245 1 0 ANKRD34B 340120 broad.mit.edu 37 5 79855544 79855544 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:79855544C>G uc010jam.2 - 4 645 c.295G>C c.(295-297)GAA>CAA p.E99Q ANKRD34B_uc003kgw.2_Missense_Mutation_p.E99Q|ANKRD34B_uc010jan.2_Missense_Mutation_p.E99Q NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 99 ANK 3. cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) GAAACAACTTCAGGGCCAGCT 0.438 NA 18 96 0 0 0.010504 0 0 VCAN 1462 broad.mit.edu 37 5 82833991 82833991 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:82833991G>C uc003kii.3 + 8 5525 c.5169G>C c.(5167-5169)AAG>AAC p.K1723N VCAN_uc003kij.3_Missense_Mutation_p.K736N|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.K387N NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1723 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTGAGGAAAAGAAAAGGAAGG 0.408 NA 18 61 0 0 0.002299 0 0 FAM81B 153643 broad.mit.edu 37 5 94731844 94731844 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:94731844C>A uc003kla.1 + 3 304 c.258C>A c.(256-258)ACC>ACA p.T86T FAM81B_uc010jbe.1_5'UTR NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 86 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) AAATGTCAACCAAGAATTCTA 0.313 NA 35 32 1.8453e-21 2.68286e-21 0.002522 1 0 TTC37 9652 broad.mit.edu 37 5 94849318 94849318 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:94849318T>A uc003klb.2 - 27 3005 c.2735A>T c.(2734-2736)GAC>GTC p.D912V NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 912 binding ovary(3)|pancreas(1) 4 ATCCATGGTGTCATAACTTCC 0.328 NA 29 23 0 0 0.005524 0 0 YTHDC2 64848 broad.mit.edu 37 5 112889304 112889304 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:112889304C>G uc003kqn.2 + 14 2068 c.1885C>G c.(1885-1887)CTG>GTG p.L629V YTHDC2_uc010jce.1_Missense_Mutation_p.L629V|YTHDC2_uc010jcf.1_Missense_Mutation_p.L329V NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 629 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ACTAATTTTTCTGCCTGGATA 0.368 NA 15 62 0 0 0.008871 0 0 CEP120 153241 broad.mit.edu 37 5 122720712 122720712 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:122720712C>A uc003ktk.2 - 12 1778 c.1696G>T c.(1696-1698)GGT>TGT p.G566C CEP120_uc011cwq.1_Missense_Mutation_p.G375C|CEP120_uc010jcz.1_Missense_Mutation_p.G540C NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 566 centrosome ovary(1) 1 CCATTAGAACCTAAAAAACGA 0.373 NA 7 53 2.74318e-10 3.40451e-10 0.006214 1 0 SLC12A2 6558 broad.mit.edu 37 5 127469953 127469953 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:127469953G>T uc003kus.2 + 6 1449 c.1285G>T c.(1285-1287)GAG>TAG p.E429* SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Nonsense_Mutation_p.E429* NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 429 Helical; (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGCTGGAATGGAGTGGGAAGC 0.343 NA 36 75 1.58521e-26 2.40161e-26 0.005524 1 0 SLC12A2 6558 broad.mit.edu 37 5 127483319 127483319 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:127483319G>T uc003kus.2 + 11 1943 c.1779G>T c.(1777-1779)ATG>ATT p.M593I SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.M593I NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 593 Helical; (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TTAAGGTAATGAGTATGGTGT 0.338 NA 10 67 0.00829132 0.00866039 0.008291 1 0 FBN2 2201 broad.mit.edu 37 5 127800505 127800505 + Silent SNP C C G rs150087436 byFrequency TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:127800505C>G uc003kuu.2 - 6 1177 c.738G>C c.(736-738)GCG>GCC p.A246A FBN2_uc003kuv.2_Silent_p.A213A|FBN2_uc003kuw.3_Silent_p.A246A|FBN2_uc003kux.1_Silent_p.A246A NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 246 TB 1. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GATGGCCCCACGCCCGTCCAA 0.607 NA 14 75 0 0 0.004007 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130834300 130834300 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:130834300C>A uc003kvn.1 - 12 1461 c.1255G>T c.(1255-1257)GCA>TCA p.A419S RAPGEF6_uc003kvp.1_Missense_Mutation_p.A469S|RAPGEF6_uc003kvo.1_Missense_Mutation_p.A419S|RAPGEF6_uc010jdi.1_Missense_Mutation_p.A419S|RAPGEF6_uc010jdj.1_Missense_Mutation_p.A419S|RAPGEF6_uc003kvq.2_Missense_Mutation_p.A136S|RAPGEF6_uc003kvr.2_Missense_Mutation_p.A419S|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.A419S NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 419 N-terminal Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TCAGGTGTTGCCTAAAAATCC 0.348 Melanoma(168;435 1955 13113 13877 23213) NA 23 16 1.08312e-15 1.46694e-15 0.009535 1 0 CAMLG 819 broad.mit.edu 37 5 134077174 134077174 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:134077174T>C uc003kzt.2 + 2 699 c.594T>C c.(592-594)CTT>CTC p.L198L CAMLG_uc003kzu.2_Intron NM_001745 NP_001736 P49069 CAMLG_HUMAN calcium modulating ligand 198 Helical; (Potential). defense response endoplasmic reticulum|integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) GATGTGCTCTTCTTGCTCTTG 0.323 NA 17 82 0 0 0.008871 0 0 PITX1 5307 broad.mit.edu 37 5 134364727 134364727 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:134364727C>T uc010jea.2 - 3 1080 c.687G>A c.(685-687)ATG>ATA p.M229I PITX1_uc011cxy.1_Missense_Mutation_p.M229I NM_002653 NP_002644 P78337 PITX1_HUMAN paired-like homeodomain transcription factor 1 229 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) CGCCTGGGCCCATGCTGGACG 0.627 NA 39 20 0 0 0.00361 0 0 FAM53C 51307 broad.mit.edu 37 5 137681183 137681183 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:137681183C>T uc003lcv.2 + 4 1276 c.806C>T c.(805-807)CCC>CTC p.P269L FAM53C_uc003lcw.2_Missense_Mutation_p.P269L|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Missense_Mutation_p.P85S NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 269 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CGCAACCTTCCCCGAAGCCGC 0.667 NA 18 60 0 0 0.001882 0 0 KDM3B 51780 broad.mit.edu 37 5 137727918 137727918 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:137727918C>A uc003lcy.1 + 8 2797 c.2597C>A c.(2596-2598)CCC>CAC p.P866H KDM3B_uc010jew.1_Missense_Mutation_p.P522H|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 866 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 AAGCAGGCCCCCAAGGGCCGG 0.607 NA 17 32 3.62473e-10 4.47657e-10 0.001882 1 0 CTNNA1 1495 broad.mit.edu 37 5 138269493 138269493 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:138269493G>A uc003ldh.2 + 18 2531 c.2436G>A c.(2434-2436)GTG>GTA p.V812V CTNNA1_uc011cyx.1_Silent_p.V709V|CTNNA1_uc011cyy.1_Silent_p.V689V|CTNNA1_uc003ldi.2_Silent_p.V510V|CTNNA1_uc003ldj.2_Nonsense_Mutation_p.W836*|CTNNA1_uc003ldl.2_Silent_p.V442V NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 812 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCTCGTAGGTGGACAGCGCCA 0.582 NA 8 25 0 0 0.008291 0 0 PCDHA13 56136 broad.mit.edu 37 5 140389313 140389313 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:140389313G>T uc003lif.2 + 4 2644 c.2644G>T c.(2644-2646)GGT>TGT p.G882C PCDHA1_uc003lha.2_Missense_Mutation_p.G618C|PCDHA1_uc003lhb.2_Missense_Mutation_p.G882C|PCDHA2_uc003lhd.2_Missense_Mutation_p.G880C|PCDHA3_uc003lhf.2_Missense_Mutation_p.G882C|PCDHA4_uc003lhi.2_Missense_Mutation_p.G879C|PCDHA4_uc003lhh.1_Nonsense_Mutation_p.E879*|PCDHA5_uc003lhk.1_Nonsense_Mutation_p.E868*|PCDHA5_uc003lhl.2_Missense_Mutation_p.G868C|PCDHA6_uc003lhn.2_Missense_Mutation_p.G618C|PCDHA6_uc003lho.2_Missense_Mutation_p.G882C|PCDHA7_uc003lhq.2_Missense_Mutation_p.G869C|PCDHA8_uc003lhs.2_Missense_Mutation_p.G882C|PCDHA9_uc003lhu.2_Missense_Mutation_p.G882C|PCDHA10_uc003lhw.2_Missense_Mutation_p.G617C|PCDHA10_uc003lhx.2_Missense_Mutation_p.G880C|PCDHA11_uc003lia.2_Missense_Mutation_p.G881C|PCDHA12_uc003lic.2_Missense_Mutation_p.G873C|PCDHA13_uc003lie.1_Nonsense_Mutation_p.E882*|PCDHAC1_uc003lih.2_Missense_Mutation_p.G895C|PCDHAC2_uc003lii.2_Missense_Mutation_p.G939C NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 882 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCGGTCCCGGTGAGTTGCC 0.522 Melanoma(147;1739 1852 5500 27947 37288) NA 13 59 4.36969e-10 5.39e-10 0.001855 1 0 PCDHB4 56131 broad.mit.edu 37 5 140501695 140501695 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:140501695G>C uc003lip.1 + 1 115 c.115G>C c.(115-117)GAG>CAG p.E39Q NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 39 Cadherin 1.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGAAACAGAGAGCGGCTC 0.532 NA 11 47 0 0 0.001855 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140729927 140729927 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:140729927A>T uc003ljo.1 + 1 100 c.100A>T c.(100-102)ACG>TCG p.T34S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.T34S NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 34 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCCGATACACGATTCCAGA 0.547 NA OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 6 0 0 0.001368 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744112 140744112 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:140744112C>T uc003lju.1 + 1 215 c.215C>T c.(214-216)ACG>ATG p.T72M 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_uc011das.1_Missense_Mutation_p.T72M NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 72 Cadherin 1.|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) AGAGGTAGGACGCAGCTTTTT 0.642 NA 39 28 0 0 0.00361 0 0 GM2A 2760 broad.mit.edu 37 5 150632804 150632804 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:150632804C>T uc003ltr.3 + 1 192 c.27C>T c.(25-27)CTC>CTT p.L9L GM2A_uc011dcs.1_RNA|GM2A_uc011dcr.1_Silent_p.L9L NM_000405 NP_000396 P17900 SAP3_HUMAN GM2 ganglioside activator precursor 9 lysosome|nucleolus sphingolipid activator protein activity 0 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGCTCCCCTCCTGATCGCCC 0.597 NA 12 67 0 0 0.003163 0 0 SPARC 6678 broad.mit.edu 37 5 151049324 151049324 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:151049324T>C uc003luh.2 - 5 376 c.352A>G c.(352-354)ACC>GCC p.T118A GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_5'UTR|SPARC_uc003lui.2_Missense_Mutation_p.T118A NM_003118 NP_003109 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich 118 Kazal-like. ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(1) 1 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) GAGTCGAAGGTCTTGTTGTCA 0.478 NA 58 39 0 0 0.00361 0 0 MRPL22 29093 broad.mit.edu 37 5 154346360 154346360 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:154346360G>T uc003lvy.3 + 7 562 c.524G>T c.(523-525)GGG>GTG p.G175V MRPL22_uc003lvz.3_Missense_Mutation_p.G95V NM_014180 NP_054899 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 isoform a 175 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTGGTGGAAGGGCCCCCACCT 0.537 NA 9 35 1.58986e-06 1.8065e-06 0.008291 1 0 SOX30 11063 broad.mit.edu 37 5 157073778 157073778 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:157073778T>C uc003lxb.1 - 3 1596 c.1254A>G c.(1252-1254)CTA>CTG p.L418L SOX30_uc003lxc.1_Silent_p.L418L|SOX30_uc011dds.1_Silent_p.L113L NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 418 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGAAACACTTAGAGGGAATC 0.383 Esophageal Squamous(31;525 799 19355 21125 41744) NA 40 62 0 0 0.00361 0 0 GABRA6 2559 broad.mit.edu 37 5 161116337 161116337 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:161116337G>T uc003lyu.2 + 5 862 c.524G>T c.(523-525)GGG>GTG p.G175V GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 175 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCAAGTTTGGGAGCTGTAAG 0.383 NA TCGA Ovarian(5;0.080) 21 58 1.75199e-13 2.30476e-13 0.007291 1 0 BNIP1 662 broad.mit.edu 37 5 172571589 172571589 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:172571589A>C uc003mcj.3 + 1 145 c.41A>C c.(40-42)CAA>CCA p.Q14P BNIP1_uc003mci.3_Missense_Mutation_p.Q14P|BNIP1_uc003mck.3_Missense_Mutation_p.Q14P|BNIP1_uc003mcl.3_Missense_Mutation_p.Q14P NM_001205 NP_001196 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kD interacting protein 1 14 Cytoplasmic (Potential). Q -> R (in Ref. 3; AAO91805). anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATCTGTAACCAAGAGATTGTC 0.602 NA OREG0017054 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 38 0 0 0.00308 0 0 NKX2-5 1482 broad.mit.edu 37 5 172659825 172659825 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:172659825T>A uc003mcm.1 - 2 898 c.722A>T c.(721-723)TAC>TTC p.Y241F NM_004387 NP_004378 P52952 NKX25_HUMAN NK2 transcription factor related, locus 5 241 Ala/Pro-rich. adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCCCACGCCGTAGGCAGGCGC 0.617 Esophageal Squamous(72;810 1219 2387 13420 44943) NA 5 5 0 0 0.00308 0 0 HK3 3101 broad.mit.edu 37 5 176314064 176314064 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:176314064C>A uc003mfa.2 - 13 1888 c.1796G>T c.(1795-1797)GGG>GTG p.G599V HK3_uc003mez.2_Missense_Mutation_p.G155V NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 599 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGGCTCTGCCCGCTCAGGCC 0.607 NA 7 30 0.00307968 0.00323014 0.00308 1 0 RGS14 10636 broad.mit.edu 37 5 176795724 176795724 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:176795724C>T uc003mgf.2 + 9 1038 c.856C>T c.(856-858)CGG>TGG p.R286W RGS14_uc003mgg.1_Missense_Mutation_p.R133W|RGS14_uc003mgh.2_Missense_Mutation_p.R133W|RGS14_uc003mgi.2_Missense_Mutation_p.R56W|RGS14_uc003mgj.2_5'Flank NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 286 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAGAGCCACCGGAAGAGCCT 0.582 NSCLC(47;353 1896 28036) NA OREG0017086 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 23 0 0 0.00308 0 0 DUSP22 56940 broad.mit.edu 37 6 348818 348818 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:348818C>A uc003msx.2 + 7 924 c.485C>A c.(484-486)GCA>GAA p.A162E DUSP22_uc011dhn.1_Missense_Mutation_p.A162E|DUSP22_uc003msy.1_Missense_Mutation_p.A119E NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 162 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.A162V(1) ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TTGCAGGATGCAGAAGAAGCC 0.557 NA 9 102 9.70103e-10 1.1908e-09 0.008291 1 0 F13A1 2162 broad.mit.edu 37 6 6251148 6251148 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:6251148G>T uc003mwv.2 - 5 709 c.586C>A c.(586-588)CTG>ATG p.L196M F13A1_uc011dib.1_Missense_Mutation_p.L133M NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 196 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TCATTGTCCAGATACACAGCA 0.388 NA 39 168 3.54909e-21 5.14516e-21 0.002852 1 0 TFAP2A 7020 broad.mit.edu 37 6 10404842 10404842 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:10404842G>T uc003myr.2 - 4 915 c.663C>A c.(661-663)CTC>CTA p.L221L TFAP2A_uc003myq.2_Silent_p.L215L|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.L221L|TFAP2A_uc003myt.2_Silent_p.L217L|TFAP2A_uc003myu.1_Silent_p.L221L NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 221 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) AGGTGGAGCTGAGGAGCGAGA 0.622 NA 15 65 1.02788e-11 1.30786e-11 0.00499 1 0 HIVEP1 3096 broad.mit.edu 37 6 12163672 12163672 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:12163672C>G uc003nac.2 + 9 7314 c.7135C>G c.(7135-7137)CAT>GAT p.H2379D HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2379 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCCCCACACTCATTTGTTTAG 0.532 NA 18 82 0 0 0.008871 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124824 26124824 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:26124824G>C uc003ngm.2 + 1 452 c.364G>C c.(364-366)GAG>CAG p.E122Q HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.E122Q NM_003512 NP_003503 Q93077 H2A1C_HUMAN histone cluster 1, H2ac 122 nucleosome assembly nucleosome|nucleus DNA binding 0 TAAGAAGACCGAGAGTCACCA 0.562 NA 14 47 0 0 0.006122 0 0 BTN1A1 696 broad.mit.edu 37 6 26502076 26502076 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:26502076G>A uc003nif.3 + 2 358 c.338G>A c.(337-339)GGC>GAC p.G113D NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 113 Extracellular (Potential).|Ig-like V-type 1. extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 AGGATCCGTGGCGTCAGAGTC 0.647 NA 15 55 0 0 0.006122 0 0 ABT1 29777 broad.mit.edu 37 6 26598252 26598252 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:26598252G>T uc003nii.2 + 2 383 c.352G>T c.(352-354)GCC>TCC p.A118S NM_013375 NP_037507 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 118 RRM. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity p.A118A(1) ovary(1) 1 CAAGCGCATAGCCAAGCGCGT 0.577 NA 8 35 0.00621372 0.00649704 0.006214 1 0 OR10C1 442194 broad.mit.edu 37 6 29408157 29408157 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:29408157A>G uc011dlp.1 + 1 365 c.365A>G c.(364-366)TAT>TGT p.Y122C OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TATGACCGCTATGCAGCCATC 0.627 NA 12 40 0 0 0.00245 0 0 HLA-J 3137 broad.mit.edu 37 6 29977342 29977342 + Missense_Mutation SNP A A T rs113017032 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:29977342A>T uc003rtl.3 + 5 723 c.361A>T c.(361-363)AGG>TGG p.R121W HLA-G_uc011dmb.1_3'UTR|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038). 0 TGGGACTGAGAGGCAAGATTT 0.438 NA 3 45 0 0 0.001168 0 0 TRIM31 11074 broad.mit.edu 37 6 30071355 30071355 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:30071355C>T uc003npg.1 - 9 1346 c.1236G>A c.(1234-1236)CTG>CTA p.L412L TRIM31_uc003npi.3_RNA NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN tripartite motif protein 31 412 mitochondrion ligase activity|zinc ion binding lung(1) 1 GGATCGCTGTCAGCCACTCAC 0.552 NA 15 101 0 0 0.006122 0 0 APOM 55937 broad.mit.edu 37 6 31625865 31625865 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:31625865G>A uc003nvl.2 + 6 639 c.566G>A c.(565-567)TGA>TAA p.*189* APOM_uc003nvk.2_Silent_p.*117* NM_019101 NP_061974 O95445 APOM_HUMAN apolipoprotein M 189 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity 0 TCCAATAACTGACCTGTAACT 0.502 Colon(39;129 858 13764 41453 42617) NA 18 123 0 0 0.001882 0 0 SCUBE3 222663 broad.mit.edu 37 6 35209366 35209366 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:35209366C>G uc003okf.1 + 11 1248 c.1242C>G c.(1240-1242)CTC>CTG p.L414L SCUBE3_uc003okg.1_Silent_p.L413L|SCUBE3_uc003okh.1_Silent_p.L301L NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 414 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 AAGCCATGCTCAGCTGCAACC 0.582 NA OREG0017372 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 120 0 0 0.000978 0 0 C6orf222 389384 broad.mit.edu 37 6 36294441 36294441 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:36294441C>G uc003oly.2 - 5 1060 c.882G>C c.(880-882)AAG>AAC p.K294N NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 294 skin(2)|ovary(1)|breast(1) 4 TTGAGGTTCTCTTGAGGCTTG 0.567 NA 32 270 0 0 0.002836 0 0 DNAH8 1769 broad.mit.edu 37 6 38705690 38705690 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:38705690C>T uc003ooe.1 + 5 1007 c.407C>T c.(406-408)TCA>TTA p.S136L NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GCCAGCAACTCAGAAACTGTT 0.393 NA 18 304 0 0 0.002299 0 0 ZNF318 24149 broad.mit.edu 37 6 43308097 43308097 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:43308097T>C uc003oux.2 - 10 3717 c.3639A>G c.(3637-3639)AAA>AAG p.K1213K ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1213 Lys-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCTTTTTTTCTTTCTTCTCCT 0.483 NA 20 98 0 0 0.00333 0 0 PLA2G7 7941 broad.mit.edu 37 6 46690628 46690628 + Missense_Mutation SNP T T A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:46690628T>A uc010jzf.2 - 2 270 c.1A>T c.(1-3)ATG>TTG p.M1L PLA2G7_uc010jzg.1_Missense_Mutation_p.M1L|PLA2G7_uc011dwd.1_Intron|PLA2G7_uc011dwe.1_Intron NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 1 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) GGTGGCACCATCTTGGGAGCT 0.438 NA 26 17 0 0 0.00632 0 0 GPR115 221393 broad.mit.edu 37 6 47682876 47682876 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:47682876C>A uc003oza.1 + 6 2153 c.1895C>A c.(1894-1896)ACG>AAG p.T632K GPR115_uc003oyz.1_Missense_Mutation_p.T689K|GPR115_uc003ozb.1_Missense_Mutation_p.T630K NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 632 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 ACTTCCTTGACGTTCCATATA 0.433 GBM(22;431 510 9010 26644 32828) NA 35 95 6.2361e-21 8.97608e-21 0.007835 1 0 CRISP3 10321 broad.mit.edu 37 6 49698888 49698888 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:49698888C>T uc003ozs.2 - 7 613 c.598G>A c.(598-600)GAT>AAT p.D200N NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 200 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CATAGTCCATCGTCACAGTTA 0.343 NA 33 47 0 0 0.004878 0 0 PKHD1 5314 broad.mit.edu 37 6 51712598 51712598 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:51712598G>T uc003pah.1 - 50 8358 c.8082C>A c.(8080-8082)AGC>AGA p.S2694R PKHD1_uc010jzn.1_Missense_Mutation_p.S677R|PKHD1_uc003pai.2_Missense_Mutation_p.S2694R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2694 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) GCCTCAGCTGGCTATTGAAGA 0.458 NA 38 66 4.44401e-20 6.3603e-20 0.002522 1 0 PKHD1 5314 broad.mit.edu 37 6 51889474 51889474 + Missense_Mutation SNP C C A rs141103838 byFrequency TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:51889474C>A uc003pah.1 - 32 5410 c.5134G>T c.(5134-5136)GGG>TGG p.G1712W PKHD1_uc003pai.2_Missense_Mutation_p.G1712W NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1712 IPT/TIG 12; atypical.|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) TGGTACTCCCCGGCCGGAAGG 0.522 NA 20 47 3.62473e-10 4.47657e-10 0.001882 1 0 TINAG 27283 broad.mit.edu 37 6 54219322 54219322 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:54219322G>T uc003pcj.2 + 9 1284 c.1138G>T c.(1138-1140)GTC>TTC p.V380F TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 380 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CATAATGCAAGTCCGTGAAGA 0.343 NA 7 42 6.31663e-08 7.38526e-08 0.003163 1 0 KHDRBS2 202559 broad.mit.edu 37 6 62995788 62995788 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:62995788C>A uc003peg.2 - 1 313 c.66G>T c.(64-66)GTG>GTT p.V22V NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 22 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) GCGACGCATGCACAAAAGATG 0.572 NA 16 19 2.94398e-08 3.49468e-08 0.007413 1 0 BAI3 577 broad.mit.edu 37 6 69666619 69666619 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:69666619C>A uc003pev.3 + 8 1891 c.1443C>A c.(1441-1443)ACC>ACA p.T481T BAI3_uc010kak.2_Silent_p.T481T NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 481 TSP type-1 4.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GAATAAGGACCTGTCAGGGTG 0.498 NA 49 87 2.79147e-13 3.64371e-13 0.00361 1 0 BAI3 577 broad.mit.edu 37 6 69785913 69785913 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:69785913G>C uc003pev.3 + 17 2911 c.2463G>C c.(2461-2463)TTG>TTC p.L821F BAI3_uc010kak.2_Missense_Mutation_p.L821F NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 821 GPS.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ATTGTGTATTGTGGGATGACT 0.333 NA 20 51 0 0 0.004656 0 0 COL19A1 1310 broad.mit.edu 37 6 70646688 70646689 + Missense_Mutation DNP GG GG TT TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:70646688_70646689GG>TT uc003pfc.1 + 8 876_877 c.759_760GG>TT c.(757-762)CAGGAT>CATTAT p.253_254QD>HY COL19A1_uc010kam.1_Missense_Mutation_p.149_150QD>HY NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 253_254 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GCCCAGAGCAGGATGGCTTTGG 0.441 NA 20 76 0 0 0.004672 0 0 COL19A1 1310 broad.mit.edu 37 6 70897948 70897948 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:70897948C>T uc003pfc.1 + 47 3143 c.3026C>T c.(3025-3027)CCG>CTG p.P1009L NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 1009 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CCTGGCATTCCGGTAAGTAGT 0.522 NA 10 14 0 0 0.001368 0 0 FAM135A 57579 broad.mit.edu 37 6 71234590 71234590 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:71234590G>C uc003pfj.2 + 13 1936 c.1803G>C c.(1801-1803)TTG>TTC p.L601F FAM135A_uc003pfi.2_Intron|FAM135A_uc003pfh.2_Intron|FAM135A_uc003pfl.2_Intron|FAM135A_uc003pfn.2_Intron|FAM135A_uc003pfo.1_5'Flank NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 601 central_nervous_system(1) 1 TTGATCCTTTGAACTCTGGCA 0.383 NA 3 20 0 0 0.004672 0 0 FILIP1 27145 broad.mit.edu 37 6 76124490 76124490 + Nonsense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:76124490G>A uc003pia.2 - 2 572 c.199C>T c.(199-201)CGA>TGA p.R67* FILIP1_uc003phy.1_Nonsense_Mutation_p.R67*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.R70* NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 67 skin(3)|ovary(1) 4 TTAGTTTTTCGTTCACATTCT 0.408 NA 23 175 0 0 0.00333 0 0 RIPPLY2 134701 broad.mit.edu 37 6 84563413 84563413 + Splice_Site SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:84563413G>T uc003pke.2 + 2 247 c.96_splice c.e2-1 p.G32_splice NM_001009994 NP_001009994 Q5TAB7 RIPP2_HUMAN ripply2 protein somite rostral/caudal axis specification nucleus 0 CTATCCCGCAGATACGCAGGC 0.672 NA 7 4 9.31168e-06 1.03818e-05 0.001855 1 0 ASCC3 10973 broad.mit.edu 37 6 101053536 101053536 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:101053536G>A uc003pqk.2 - 33 5414 c.5085C>T c.(5083-5085)TTC>TTT p.F1695F NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1695 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTTGGTCATCGAACTGCGGCC 0.373 NA 11 48 0 0 0.001855 0 0 SCML4 256380 broad.mit.edu 37 6 108066223 108066223 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:108066223G>T uc010kdf.2 - 5 863 c.612C>A c.(610-612)CAC>CAA p.H204Q SCML4_uc003prz.3_Missense_Mutation_p.H146Q|SCML4_uc011eam.1_Missense_Mutation_p.H204Q|SCML4_uc003psa.3_Missense_Mutation_p.H175Q NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GGAAGGGCTGGTGGCTGAAGA 0.612 NA 9 53 0.000673444 0.000717534 0.008291 1 0 HS3ST5 222537 broad.mit.edu 37 6 114378531 114378531 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:114378531G>T uc003pwg.3 - 2 963 c.931C>A c.(931-933)CGC>AGC p.R311S uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.R311S NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 311 PAPS (By similarity).|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GGATGAATGCGCCCCTTGCTG 0.398 NA 28 47 6.07407e-21 8.76775e-21 0.007291 1 0 DSE 29940 broad.mit.edu 37 6 116747753 116747753 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:116747753C>T uc003pws.2 + 3 627 c.433C>T c.(433-435)CCT>TCT p.P145S DSE_uc011ebf.1_Missense_Mutation_p.P145S|DSE_uc011ebg.1_Missense_Mutation_p.P164S|DSE_uc003pwt.2_Missense_Mutation_p.P145S NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 145 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GAAAGATGCTCCTTGGGATGA 0.433 NA 33 44 0 0 0.005524 0 0 TRDN 10345 broad.mit.edu 37 6 123591004 123591004 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:123591004G>T uc003pzj.1 - 31 1750 c.1728C>A c.(1726-1728)CCC>CCA p.P576P TRDN_uc010kem.1_Silent_p.P77P NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 576 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) TTGTTGGTTTGGGCTTGGCTG 0.323 NA 6 22 2.74318e-10 3.40451e-10 0.006214 1 0 LAMA2 3908 broad.mit.edu 37 6 129468115 129468115 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:129468115G>T uc003qbn.2 + 6 936 c.831G>T c.(829-831)TCG>TCT p.S277S LAMA2_uc003qbo.2_Silent_p.S277S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 277 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATTACTACTCGGTCAAGGATA 0.398 NA 19 94 1.9806e-07 2.29177e-07 0.002299 1 0 LAMA2 3908 broad.mit.edu 37 6 129513894 129513894 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:129513894G>A uc003qbn.2 + 12 1783 c.1678G>A c.(1678-1680)GAC>AAC p.D560N LAMA2_uc003qbo.2_Missense_Mutation_p.D560N NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 560 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCAGCAGGACGACTTGGACTC 0.547 NA 32 34 0 0 0.004878 0 0 LAMA2 3908 broad.mit.edu 37 6 129826417 129826417 + Nonsense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:129826417A>T uc003qbn.2 + 60 8725 c.8620A>T c.(8620-8622)AAA>TAA p.K2874* LAMA2_uc003qbo.2_Nonsense_Mutation_p.K2870*|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2874 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CATCAGTCCCAAAAAAGCCGA 0.403 NA 21 31 0 0 0.00278 0 0 C6orf191 253582 broad.mit.edu 37 6 130166922 130166922 + Missense_Mutation SNP C C T rs143949103 by1000genomes TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:130166922C>T uc003qbs.2 - 2 192 c.109G>A c.(109-111)GTG>ATG p.V37M NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN hypothetical protein LOC253582 37 Helical; (Potential). integral to membrane p.V37M(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131) TCAAACATCACGCAGCCCATG 0.358 NA 27 40 0 0 0.003755 0 0 SHPRH 257218 broad.mit.edu 37 6 146266723 146266723 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:146266723C>A uc003qlf.2 - 8 1771 c.1372G>T c.(1372-1374)GGA>TGA p.G458* SHPRH_uc003qld.2_Nonsense_Mutation_p.G458*|SHPRH_uc003qle.2_Nonsense_Mutation_p.G458*|SHPRH_uc003qlg.1_Nonsense_Mutation_p.G14*|SHPRH_uc003qlj.1_Nonsense_Mutation_p.G347* NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 458 H15. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ATGGACACTCCTTTTTTTCCA 0.328 NA 8 9 1.26484e-09 1.54882e-09 0.00308 1 0 AKAP12 9590 broad.mit.edu 37 6 151672917 151672917 + Missense_Mutation SNP G G C rs142987485 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:151672917G>C uc011eep.1 + 4 3631 c.3391G>C c.(3391-3393)GAG>CAG p.E1131Q AKAP12_uc003qoe.2_Missense_Mutation_p.E1131Q|AKAP12_uc003qof.2_Missense_Mutation_p.E1033Q|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.E1026Q NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 1131 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AGAGAGCATAGAGTCCAGTGA 0.512 Melanoma(141;1616 1805 10049 24534 51979) NA 8 23 0 0 0.004482 0 0 ARID1B 57492 broad.mit.edu 37 6 157522225 157522225 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:157522225G>C uc003qqn.2 + 18 4595 c.4443G>C c.(4441-4443)ATG>ATC p.M1481I ARID1B_uc003qqo.2_Missense_Mutation_p.M1441I|ARID1B_uc003qqp.2_Missense_Mutation_p.M1428I NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1486 Pro-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGACGATATGATGGTACCCG 0.572 NA 19 52 0 0 0.010504 0 0 TULP4 56995 broad.mit.edu 37 6 158902115 158902115 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:158902115G>C uc003qrf.2 + 8 2637 c.1280G>C c.(1279-1281)AGA>ACA p.R427T TULP4_uc011efo.1_Missense_Mutation_p.R427T|TULP4_uc003qrg.2_Missense_Mutation_p.R427T NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 427 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) AACAACATGAGAGACTTTGTC 0.587 NA 22 52 0 0 0.007291 0 0 FNDC1 84624 broad.mit.edu 37 6 159654537 159654537 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:159654537C>A uc010kjv.2 + 11 3193 c.2993C>A c.(2992-2994)CCC>CAC p.P998H FNDC1_uc010kjw.1_Missense_Mutation_p.P883H NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 998 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGGATGACACCCGGCCGGGCC 0.706 NA 6 8 0.000978159 0.00104 0.000978 1 0 LPA 4018 broad.mit.edu 37 6 161016500 161016500 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:161016500G>T uc003qtl.2 - 22 3475 c.3355C>A c.(3355-3357)CCC>ACC p.P1119T NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3627 Kringle 32. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CTGACACTGGGATCCATGGTG 0.522 NA 42 50 2.24059e-37 3.53796e-37 0.00361 1 0 MACC1 346389 broad.mit.edu 37 7 20198817 20198817 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:20198817T>C uc003sus.3 - 5 1476 c.1167A>G c.(1165-1167)ACA>ACG p.T389T MACC1_uc010kug.2_Silent_p.T389T NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 389 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 GTCCACAAACTGTTAAAACAA 0.403 NA 7 38 0 0 0.00308 0 0 ABCB5 340273 broad.mit.edu 37 7 20725427 20725427 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:20725427G>C uc003suw.3 + 7 1189 c.643G>C c.(643-645)GAC>CAC p.D215H ABCB5_uc010kuh.2_Missense_Mutation_p.D660H NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 215 Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AGACTTCATTGACAAGGCTGA 0.388 NA 23 36 0 0 0.00632 0 0 OSBPL3 26031 broad.mit.edu 37 7 24846453 24846453 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:24846453C>G uc003sxf.2 - 21 2791 c.2386G>C c.(2386-2388)GAT>CAT p.D796H OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.D760H|OSBPL3_uc003sxh.2_Missense_Mutation_p.D765H|OSBPL3_uc003sxi.2_Missense_Mutation_p.D729H NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 796 lipid transport lipid binding|protein binding skin(1) 1 GATGATGGATCCATTTCATTT 0.383 NA 13 67 0 0 0.004007 0 0 TXNDC3 51314 broad.mit.edu 37 7 37890266 37890266 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:37890266A>G uc003tfn.2 + 5 499 c.127A>G c.(127-129)AGA>GGA p.R43G NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 43 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TGGACCTTGCAGAGCAATGCA 0.353 Ovarian(108;903 1537 27096 29907 47400) NA Kartagener_syndrome 13 74 0 0 0.006122 0 0 SFRP4 6424 broad.mit.edu 37 7 37956065 37956065 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:37956065C>T uc003tfo.3 - 1 461 c.75G>A c.(73-75)GAG>GAA p.E25E NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 25 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 TGCGCACCGCCTCGCAGGGCG 0.687 NA 12 36 0 0 0.001855 0 0 INHBA 3624 broad.mit.edu 37 7 41729708 41729708 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:41729708C>A uc003thq.2 - 2 1056 c.821G>T c.(820-822)GGA>GTA p.G274V INHBA_uc003thr.2_Missense_Mutation_p.G274V NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 274 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 accttcacctccgcccttctt 0.363 NA TSP Lung(11;0.080) 4 21 0.00909568 0.00941286 0.009096 1 0 GLI3 2737 broad.mit.edu 37 7 42005202 42005202 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:42005202C>T uc011kbh.1 - 15 3560 c.3469G>A c.(3469-3471)GAC>AAC p.D1157N GLI3_uc011kbg.1_Missense_Mutation_p.D1098N NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1157 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 ATGGGCAGGTCGGTTTTGCTG 0.692 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 30 105 0 0 0.003755 0 0 HECW1 23072 broad.mit.edu 37 7 43508550 43508550 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:43508550G>T uc003tid.1 + 16 3550 c.2945G>T c.(2944-2946)TGC>TTC p.C982F HECW1_uc011kbi.1_Missense_Mutation_p.C948F NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 982 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AGTAGCACCTGCTTAAAGCAC 0.502 NA 38 36 5.20006e-24 7.70464e-24 0.002852 1 0 CAMK2B 816 broad.mit.edu 37 7 44281927 44281927 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:44281927C>T uc003tkq.2 - 10 919 c.709G>A c.(709-711)GAG>AAG p.E237K CAMK2B_uc003tkp.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkx.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.E237K|CAMK2B_uc003tks.2_Missense_Mutation_p.E237K|CAMK2B_uc003tku.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkv.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkt.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkw.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyc.2_Missense_Mutation_p.E237K NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 237 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 GTGTCCCACTCAGGGGACGGG 0.607 NA 8 96 0 0 0.008291 0 0 OGDH 4967 broad.mit.edu 37 7 44747304 44747304 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:44747304C>T uc003tln.2 + 22 3029 c.2920C>T c.(2920-2922)CGG>TGG p.R974W OGDH_uc011kbx.1_Missense_Mutation_p.R970W|OGDH_uc011kby.1_Missense_Mutation_p.R824W|OGDH_uc003tlp.2_Missense_Mutation_p.R985W|OGDH_uc011kbz.1_Missense_Mutation_p.R769W NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 974 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) GCCAAGACTTCGGACCACCAT 0.607 NA 9 69 0 0 0.006214 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44801331 44801331 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:44801331G>A uc003tlr.2 + 11 1546 c.1423G>A c.(1423-1425)GAG>AAG p.E475K ZMIZ2_uc003tlq.2_Missense_Mutation_p.E417K|ZMIZ2_uc003tls.2_Missense_Mutation_p.E449K|ZMIZ2_uc003tlt.2_Missense_Mutation_p.E98K|ZMIZ2_uc010kyj.2_5'UTR NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 475 Interaction with AR. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 CTACCACCACGAGGACCGGCA 0.602 NSCLC(20;604 852 1948 16908 50522) NA 17 23 0 0 0.004007 0 0 ZNF479 90827 broad.mit.edu 37 7 57187809 57187809 + Missense_Mutation SNP T T G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:57187809T>G uc010kzo.2 - 5 1584 c.1313A>C c.(1312-1314)AAA>ACA p.K438T NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 438 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATTTGTAGGGTCT 0.453 NA 5 72 0 0 0.001168 0 0 PCLO 27445 broad.mit.edu 37 7 82584891 82584891 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:82584891C>A uc003uhx.2 - 5 5667 c.5378G>T c.(5377-5379)AGG>ATG p.R1793M PCLO_uc003uhv.2_Missense_Mutation_p.R1793M NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1724 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTCTATTTCCCTCTGCTTTTC 0.393 NA 23 19 1.50039e-11 1.90188e-11 0.001882 1 0 PCLO 27445 broad.mit.edu 37 7 82584893 82584893 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:82584893C>A uc003uhx.2 - 5 5665 c.5376G>T c.(5374-5376)CAG>CAT p.Q1792H PCLO_uc003uhv.2_Missense_Mutation_p.Q1792H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1723 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTATTTCCCTCTGCTTTTCTT 0.398 NA 20 20 5.03518e-11 6.33479e-11 0.007413 1 0 SEMA3E 9723 broad.mit.edu 37 7 83022004 83022004 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:83022004C>A uc003uhy.1 - 14 2000 c.1534G>T c.(1534-1536)GCT>TCT p.A512S NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 512 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) CTGACTTGAGCCACAGCAGAA 0.473 NA 41 23 8.86878e-18 1.24114e-17 0.00361 1 0 CLDN12 9069 broad.mit.edu 37 7 90042003 90042003 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:90042003G>A uc003ukp.2 + 5 649 c.13G>A c.(13-15)GAT>AAT p.D5N CLDN12_uc003ukq.2_Missense_Mutation_p.D5N|CLDN12_uc010leq.2_Missense_Mutation_p.D5N|CLDN12_uc003ukr.2_Missense_Mutation_p.D5N|CLDN12_uc003uks.2_Missense_Mutation_p.D5N NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 5 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 GGGCTGTCGGGATGTCCACGC 0.532 NA 31 39 0 0 0.006999 0 0 TSC22D4 81628 broad.mit.edu 37 7 100075039 100075039 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:100075039C>G uc003uva.2 - 2 1378 c.623G>C c.(622-624)CGG>CCG p.R208P TSC22D4_uc003uvb.2_5'UTR|TSC22D4_uc011kjv.1_5'UTR|TSC22D4_uc010lgx.2_Missense_Mutation_p.R208P|TSC22D4_uc003uvc.3_Missense_Mutation_p.R208P NM_030935 NP_112197 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 208 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGTGGCAGCCCGGGATGTGCC 0.692 NA 9 8 0 0 0.004482 0 0 MUC17 140453 broad.mit.edu 37 7 100693917 100693917 + Splice_Site SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:100693917G>T uc003uxp.1 + 7 12927 c.12874_splice c.e7+1 p.D4292_splice MUC17_uc010lho.1_Intron NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ATTTGCTCAGGTGAACTCTGG 0.463 NA 11 10 0.00010058 0.000109595 0.001368 1 0 RELN 5649 broad.mit.edu 37 7 103163886 103163886 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:103163886C>T uc003vca.2 - 47 7602 c.7442G>A c.(7441-7443)TGC>TAC p.C2481Y RELN_uc010liz.2_Missense_Mutation_p.C2481Y NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2481 EGF-like 6. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CATGTCTATGCAGCCATCCCC 0.478 NSCLC(146;835 1944 15585 22231 52158) NA 22 79 0 0 0.005443 0 0 ATP6V1F 9296 broad.mit.edu 37 7 128505563 128505563 + Silent SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:128505563A>T uc003voc.1 + 2 352 c.291A>T c.(289-291)CCA>CCT p.P97P KCP_uc003vob.1_Intron NM_004231 NP_004222 Q16864 VATF_HUMAN ATPase, H+ transporting, lysosomal 14kD, V1 97 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 AGGAGCACCCATATGACGCCG 0.632 NA 19 12 0 0 0.00278 0 0 FAM40B 57464 broad.mit.edu 37 7 129120676 129120676 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:129120676C>G uc011koy.1 + 19 2035 c.1995C>G c.(1993-1995)ATC>ATG p.I665M FAM40B_uc003vow.2_Missense_Mutation_p.I665M|FAM40B_uc011koz.1_Missense_Mutation_p.I157M NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 665 0 TTTCCTGCATCAACCTCCTGA 0.433 NA 19 81 0 0 0.002299 0 0 PLXNA4 91584 broad.mit.edu 37 7 131844347 131844347 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:131844347G>T uc003vra.3 - 25 4774 c.4545C>A c.(4543-4545)GTC>GTA p.V1515V NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1515 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TCTTTACTGGGACCTCGGGGC 0.532 NA 149 78 2.1406e-88 3.51198e-88 0.00361 1 0 NUP205 23165 broad.mit.edu 37 7 135322691 135322691 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:135322691G>T uc003vsw.2 + 37 5180 c.5149G>T c.(5149-5151)GGA>TGA p.G1717* NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1717 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CCAGTGCTTAGGACTACTAAG 0.373 NA 5 30 0.00198382 0.00208943 0.001984 1 0 SLC13A4 26266 broad.mit.edu 37 7 135376299 135376299 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:135376299C>G uc003vta.2 - 12 2004 c.1315G>C c.(1315-1317)GAT>CAT p.D439H SLC13A4_uc003vtb.2_Missense_Mutation_p.D440H|PL-5283_uc003vsz.3_Intron NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate 439 integral to plasma membrane sodium:sulfate symporter activity 0 CTCTCACCATCATTCTTTTTC 0.468 NA 7 27 0 0 0.001984 0 0 CHRM2 1129 broad.mit.edu 37 7 136699780 136699780 + Silent SNP C C A rs78847341 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:136699780C>A uc003vtf.1 + 4 791 c.168C>A c.(166-168)ACC>ACA p.T56T CHRM2_uc003vtg.1_Silent_p.T56T|CHRM2_uc003vtj.1_Silent_p.T56T|CHRM2_uc003vtk.1_Silent_p.T56T|CHRM2_uc003vtl.1_Silent_p.T56T|CHRM2_uc003vtm.1_Silent_p.T56T|CHRM2_uc003vti.1_Silent_p.T56T|CHRM2_uc003vto.1_Silent_p.T56T|CHRM2_uc003vtn.1_Silent_p.T56T|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 56 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ACCTCCAGACCGTCAACAATT 0.458 NA 56 35 4.09171e-25 6.1073e-25 0.00361 1 0 CHRM2 1129 broad.mit.edu 37 7 136700015 136700016 + Missense_Mutation DNP CG CG AA TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:136700015_136700016CG>AA uc003vtf.1 + 4 1026_1027 c.403_404CG>AA c.(403-405)CGG>AAG p.R135K CHRM2_uc003vtg.1_Missense_Mutation_p.R135K|CHRM2_uc003vtj.1_Missense_Mutation_p.R135K|CHRM2_uc003vtk.1_Missense_Mutation_p.R135K|CHRM2_uc003vtl.1_Missense_Mutation_p.R135K|CHRM2_uc003vtm.1_Missense_Mutation_p.R135K|CHRM2_uc003vti.1_Missense_Mutation_p.R135K|CHRM2_uc003vto.1_Missense_Mutation_p.R135K|CHRM2_uc003vtn.1_Missense_Mutation_p.R135K|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 135 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCCAGTCAAGCGGACCACAAAA 0.5 NA 21 37 0 0 0.004672 0 0 CHRM2 1129 broad.mit.edu 37 7 136700405 136700405 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:136700405G>T uc003vtf.1 + 4 1416 c.793G>T c.(793-795)GCC>TCC p.A265S CHRM2_uc003vtg.1_Missense_Mutation_p.A265S|CHRM2_uc003vtj.1_Missense_Mutation_p.A265S|CHRM2_uc003vtk.1_Missense_Mutation_p.A265S|CHRM2_uc003vtl.1_Missense_Mutation_p.A265S|CHRM2_uc003vtm.1_Missense_Mutation_p.A265S|CHRM2_uc003vti.1_Missense_Mutation_p.A265S|CHRM2_uc003vto.1_Missense_Mutation_p.A265S|CHRM2_uc003vtn.1_Missense_Mutation_p.A265S|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 265 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GAATGGCAAAGCCCCCAGGGA 0.493 NA 17 19 6.94344e-10 8.55425e-10 0.006122 1 0 DGKI 9162 broad.mit.edu 37 7 137293787 137293787 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:137293787A>T uc003vtt.2 - 10 1093 c.1092T>A c.(1090-1092)TTT>TTA p.F364L DGKI_uc003vtu.2_Missense_Mutation_p.F64L NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 364 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 GTTTTATCACAAAAGGACGAC 0.433 NA 25 37 0 0 0.009535 0 0 Unknown 0 broad.mit.edu 37 7 142510430 142510430 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:142510430C>A uc003wbp.2 - 2 288 c.176G>T c.(175-177)AGG>ATG p.R59M SubName: Full=V_segment translation product; Flags: Fragment; NA CTGGAGGCCCCTGCCTGCAGC 0.612 NA 4 8 0.00909568 0.00941286 0.009096 1 0 OR6B1 135946 broad.mit.edu 37 7 143701627 143701627 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:143701627G>T uc003wdt.1 + 1 538 c.538G>T c.(538-540)GAC>TAC p.D180Y NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) CTTCTTCTGTGACATCTCTCC 0.478 NA 14 42 6.31663e-08 7.38526e-08 0.003163 1 0 AGAP3 116988 broad.mit.edu 37 7 150840846 150840846 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:150840846G>T uc003wjg.1 + 18 2555 c.2552G>T c.(2551-2553)CGG>CTG p.R851L AGAP3_uc003wje.1_Missense_Mutation_p.R520L|AGAP3_uc003wjj.1_Missense_Mutation_p.R350L|AGAP3_uc003wjk.1_Missense_Mutation_p.R269L NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 815 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GTGAGGAGCCGGGACGCCCGG 0.602 NA 39 18 1.30916e-28 1.99841e-28 0.00361 1 0 NCAPG2 54892 broad.mit.edu 37 7 158455020 158455020 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:158455020T>C uc003wnv.1 - 16 2000 c.1855A>G c.(1855-1857)ATG>GTG p.M619V NCAPG2_uc010lqu.1_Missense_Mutation_p.M411V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.M619V|NCAPG2_uc011kwe.1_Missense_Mutation_p.M619V|NCAPG2_uc011kwc.1_Missense_Mutation_p.M120V|NCAPG2_uc011kwd.1_Intron NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 619 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) AAACCTGCCATGCATGCAACA 0.328 NA 7 46 0 0 0.00308 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497408 1497408 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:1497408G>A uc003wpl.2 + 2 646 c.549G>A c.(547-549)GCG>GCA p.A183A DLGAP2_uc003wpm.2_Silent_p.A183A NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 262 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACGGCCGGGCGGACGACCACC 0.667 NA 2 3 0 0 0.004672 0 0 RP1L1 94137 broad.mit.edu 37 8 10466103 10466103 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:10466103T>C uc003wtc.2 - 4 5734 c.5505A>G c.(5503-5505)ATA>ATG p.I1835M NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1835 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCGGGGCCTCTATGCCTTCGG 0.637 NA 56 129 0 0 0.00361 0 0 PINX1 54984 broad.mit.edu 37 8 10623297 10623297 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:10623297C>T uc003wth.2 - 7 634 c.601G>A c.(601-603)GAC>AAC p.D201N SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_Silent_p.*175* NM_017884 NP_060354 Q96BK5 PINX1_HUMAN PIN2-interacting protein 1 201 mitotic metaphase plate congression|negative regulation of cell proliferation chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle protein binding|telomerase inhibitor activity|telomeric RNA binding lung(1)|kidney(1)|skin(1) 3 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) TCAGAAATGTCAGACCCTGGA 0.512 NA 42 119 0 0 0.00361 0 0 DLC1 10395 broad.mit.edu 37 8 13356917 13356917 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:13356917C>T uc003wwm.2 - 2 1108 c.664G>A c.(664-666)GAG>AAG p.E222K DLC1_uc003wwn.2_Missense_Mutation_p.E222K|DLC1_uc011kxy.1_Missense_Mutation_p.E222K NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 222 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 AATTGTTTCTCAGGTGCAATA 0.383 NA 26 101 0 0 0.009535 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19362965 19362965 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:19362965C>A uc011kyn.1 - 4 1445 c.381G>T c.(379-381)CAG>CAT p.Q127H CSGALNACT1_uc011kyo.1_Missense_Mutation_p.Q127H|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.Q126H|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 127 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) CCTTGTCCACCTGCGAGTGCA 0.592 NA 24 52 8.16721e-17 1.12732e-16 0.002096 1 0 FZD3 7976 broad.mit.edu 37 8 28378250 28378250 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:28378250C>G uc003xgx.2 + 4 763 c.285C>G c.(283-285)GTC>GTG p.V95V FZD3_uc010lvb.2_Silent_p.V95V NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 95 FZ.|Extracellular (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) ATGGACGTGTCACACTTCCCT 0.488 NA 48 133 0 0 0.00361 0 0 TEX15 56154 broad.mit.edu 37 8 30703622 30703622 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:30703622T>C uc003xil.2 - 1 2912 c.2912A>G c.(2911-2913)GAA>GGA p.E971G NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 971 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AATGTGCTTTTCTGACTGTGA 0.353 NA 23 40 0 0 0.002096 0 0 TEX15 56154 broad.mit.edu 37 8 30705432 30705432 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:30705432C>T uc003xil.2 - 1 1102 c.1102G>A c.(1102-1104)GGG>AGG p.G368R NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 368 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTATTTTCCCCAATTTCAGT 0.383 NA 5 17 0 0 0.001168 0 0 IKBKB 3551 broad.mit.edu 37 8 42179970 42179970 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:42179970G>T uc003xow.1 + 19 2121 c.1944G>T c.(1942-1944)GAG>GAT p.E648D IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.E425D|IKBKB_uc003xox.1_Missense_Mutation_p.E369D|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.E646D|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.E589D NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 648 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GGCTGCAGGAGAAGCGGCAGA 0.562 NA 24 94 7.26314e-15 9.71951e-15 0.007291 1 0 SNTG1 54212 broad.mit.edu 37 8 51705360 51705360 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:51705360A>G uc010lxy.1 + 20 1896 c.1525A>G c.(1525-1527)ACC>GCC p.T509A SNTG1_uc003xqs.1_Missense_Mutation_p.T509A|SNTG1_uc010lxz.1_Missense_Mutation_p.T472A|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 509 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CAGCTCTGCTACCACGAGCAA 0.433 NA 25 56 0 0 0.008361 0 0 C8orf46 254778 broad.mit.edu 37 8 67422362 67422362 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:67422362G>A uc003xwg.2 + 4 705 c.312G>A c.(310-312)CTG>CTA p.L104L C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Intron|C8orf46_uc003xwi.2_Translation_Start_Site NM_152765 NP_689978 Q8TAG6 CH046_HUMAN hypothetical protein LOC254778 104 p.C104W(1)|p.C104Y(1) skin(2) 2 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CATCAAATCTGTGTGGGAATC 0.433 NA 16 64 0 0 0.006122 0 0 C8orf45 157777 broad.mit.edu 37 8 67791074 67791074 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:67791074C>G uc003xwz.3 + 7 800 c.629C>G c.(628-630)GCC>GGC p.A210G C8orf45_uc003xwv.2_Missense_Mutation_p.A210G|C8orf45_uc011lev.1_Missense_Mutation_p.A210G|C8orf45_uc011lew.1_Missense_Mutation_p.A141G|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.A210G NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 210 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAAATAATTGCCACAAAGGCA 0.279 NA 12 26 0 0 0.003163 0 0 PRDM14 63978 broad.mit.edu 37 8 70978496 70978496 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:70978496C>A uc003xym.2 - 5 1359 c.1157G>T c.(1156-1158)GGG>GTG p.G386V NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TGGCTGCTTCCCCGGCTCTGT 0.537 NSCLC(129;99 1813 5906 40656 46114) NA 18 41 4.26978e-12 5.46727e-12 0.00333 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75927069 75927069 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:75927069C>T uc003yan.2 + 6 1024 c.649C>T c.(649-651)CCT>TCT p.P217S CRISPLD1_uc011lfk.1_Missense_Mutation_p.P29S|CRISPLD1_uc011lfl.1_Missense_Mutation_p.P29S NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 217 extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) GGGCCATGCCCCTTACAAACA 0.423 NA 6 19 0 0 0.001168 0 0 ZFHX4 79776 broad.mit.edu 37 8 77619980 77619980 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:77619980C>A uc003yav.2 + 3 3099 c.2712C>A c.(2710-2712)CTC>CTA p.L904L ZFHX4_uc003yat.1_Silent_p.L904L|ZFHX4_uc003yau.1_Silent_p.L930L|ZFHX4_uc003yaw.1_Silent_p.L904L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 904 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCGCTCTCTCCCTGAAGAGG 0.512 NA HNSCC(33;0.089) 7 17 3.09899e-07 3.55731e-07 0.004482 1 0 TPD52 7163 broad.mit.edu 37 8 80976712 80976712 + Splice_Site SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:80976712C>A uc003ybr.1 - 2 577 c.255_splice c.e2+1 p.K85_splice TPD52_uc010lzr.2_Splice_Site|TPD52_uc010lzs.1_Splice_Site|TPD52_uc003ybs.1_Splice_Site_p.K45_splice|TPD52_uc003ybt.1_Splice_Site_p.K45_splice|TPD52_uc003ybq.1_Intron|TPD52_uc003ybu.1_Intron NM_001025252 NP_001020423 P55327 TPD52_HUMAN tumor protein D52 isoform 1 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TGGTTCTTTACCTTTGCAAGT 0.428 NA 17 47 1.02788e-11 1.30786e-11 0.00499 1 0 RALYL 138046 broad.mit.edu 37 8 85441665 85441665 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:85441665G>A uc003ycq.3 + 3 525 c.109G>A c.(109-111)GAC>AAC p.D37N RALYL_uc003ycr.3_Missense_Mutation_p.D37N|RALYL_uc003ycs.3_Missense_Mutation_p.D37N|RALYL_uc010lzy.2_Missense_Mutation_p.D37N|RALYL_uc003yct.3_Missense_Mutation_p.D50N NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 37 RRM. identical protein binding|nucleotide binding|RNA binding ovary(1) 1 CAAGAAAGTTGACATTGAAGC 0.408 NA 5 12 0 0 0.001984 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885761 88885761 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:88885761C>A uc003ydz.2 - 1 536 c.439G>T c.(439-441)GTG>TTG p.V147L NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 147 ovary(1) 1 GCAAGTCCCACGAAGCACAGC 0.542 NA 20 45 5.35047e-06 6.01183e-06 0.00333 1 0 SLC26A7 115111 broad.mit.edu 37 8 92346636 92346636 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:92346636A>T uc003yex.2 + 7 1034 c.756A>T c.(754-756)AAA>AAT p.K252N SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.K252N|SLC26A7_uc003yfa.2_Missense_Mutation_p.K252N NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 252 Extracellular (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) AACAGTTTAAAAGGAAAATTA 0.353 NA 5 19 0 0 0.001168 0 0 GEM 2669 broad.mit.edu 37 8 95264412 95264412 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:95264412C>A uc003ygj.2 - 4 697 c.448G>T c.(448-450)GGG>TGG p.G150W GEM_uc003ygi.2_Missense_Mutation_p.G150W NM_005261 NP_005252 P55040 GEM_HUMAN GTP-binding mitogen-induced T-cell protein 150 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding lung(1) 1 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TATGCGTCCCCGACCTGCATG 0.517 GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766) NA 24 55 2.48779e-11 3.1456e-11 0.005443 1 0 ESRP1 54845 broad.mit.edu 37 8 95690505 95690505 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:95690505T>C uc003ygq.3 + 13 1909 c.1726T>C c.(1726-1728)TCT>CCT p.S576P ESRP1_uc003ygr.3_Missense_Mutation_p.S572P|ESRP1_uc003ygs.3_Missense_Mutation_p.S572P|ESRP1_uc003ygt.3_Missense_Mutation_p.S576P|ESRP1_uc003ygu.3_Missense_Mutation_p.S572P|ESRP1_uc003ygv.2_Missense_Mutation_p.S416P|ESRP1_uc003ygw.2_Missense_Mutation_p.S416P NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 576 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 TTACCAGCCCTCTGTGATTTT 0.502 NA 15 28 0 0 0.006122 0 0 RIMS2 9699 broad.mit.edu 37 8 105001560 105001560 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:105001560G>T uc003yls.2 + 15 2530 c.2289G>T c.(2287-2289)GGG>GGT p.G763G RIMS2_uc003ylp.2_Silent_p.G985G|RIMS2_uc003ylw.2_Silent_p.G777G|RIMS2_uc003ylq.2_Silent_p.G777G|RIMS2_uc003ylr.2_Silent_p.G824G NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1047 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCTTCGAGGGACCCGCACTA 0.388 NA HNSCC(12;0.0054) 34 94 4.92203e-23 7.26071e-23 0.00623 1 0 ZFPM2 23414 broad.mit.edu 37 8 106811019 106811019 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:106811019G>T uc003ymd.2 + 7 830 c.807G>T c.(805-807)TTG>TTT p.L269F ZFPM2_uc011lhs.1_5'UTR|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 269 C2HC-type 1. blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGGCCCATTTGATGTACTACT 0.507 NA 10 26 4.68919e-08 5.51444e-08 0.008291 1 0 ANGPT1 284 broad.mit.edu 37 8 108306254 108306254 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:108306254A>T uc003ymn.2 - 6 1416 c.948T>A c.(946-948)AAT>AAA p.N316K ANGPT1_uc011lhv.1_Missense_Mutation_p.N116K|ANGPT1_uc003ymo.2_Missense_Mutation_p.N315K|ANGPT1_uc003ymp.3_Missense_Mutation_p.N115K NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 316 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TGACATCCATATTGCAAAACA 0.348 NA 29 63 0 0 0.004289 0 0 CSMD3 114788 broad.mit.edu 37 8 114031388 114031388 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:114031388G>C uc003ynu.2 - 6 1097 c.938C>G c.(937-939)CCA>CGA p.P313R CSMD3_uc003ynt.2_Missense_Mutation_p.P273R|CSMD3_uc011lhx.1_Missense_Mutation_p.P313R|CSMD3_uc010mcx.1_Missense_Mutation_p.P313R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 313 Extracellular (Potential).|CUB 2. 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 AATTGGTGGTGGTATATTCAT 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 62 0 0 0.00333 0 0 TRPS1 7227 broad.mit.edu 37 8 116616280 116616280 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:116616280A>C uc003ynz.2 - 3 2336 c.1877T>G c.(1876-1878)GTA>GGA p.V626G TRPS1_uc011lhy.1_Missense_Mutation_p.V630G|TRPS1_uc003yny.2_Missense_Mutation_p.V639G|TRPS1_uc010mcy.2_Missense_Mutation_p.V626G NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 626 C2H2-type 3; atypical. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GAGTACATCTACGTCAGGGGT 0.517 NA Langer-Giedion_syndrome 10 24 0 0 0.001368 0 0 ATAD2 29028 broad.mit.edu 37 8 124349935 124349935 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:124349935C>A uc003yqh.3 - 21 3089 c.2981G>T c.(2980-2982)AGA>ATA p.R994I ATAD2_uc011lii.1_Missense_Mutation_p.R785I|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 994 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TGTAACATTTCTTAAGAAAAT 0.398 NA 13 37 0.000151284 0.000164489 0.001855 1 0 TMEM71 137835 broad.mit.edu 37 8 133734362 133734362 + Splice_Site SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:133734362C>T uc003ytp.2 - 7 903 c.674_splice c.e7-1 p.E225_splice TMEM71_uc003ytm.1_Splice_Site_p.E47_splice|TMEM71_uc003ytn.2_Splice_Site_p.E207_splice|TMEM71_uc003yto.2_Splice_Site_p.E163_splice NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AACCTGGTTTCTAATAGGAAG 0.353 NA 20 53 0 0 0.00333 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136554930 136554930 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:136554930G>C uc003yuv.2 + 3 635 c.241G>C c.(241-243)GGC>CGC p.G81R KHDRBS3_uc003yuw.2_Missense_Mutation_p.G81R NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 81 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GGGTCCACGTGGCAATTCTCT 0.353 NA 21 46 0 0 0.005443 0 0 FAM135B 51059 broad.mit.edu 37 8 139144932 139144932 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:139144932G>C uc003yuy.2 - 20 4296 c.4125C>G c.(4123-4125)AAC>AAG p.N1375K FAM135B_uc003yux.2_Missense_Mutation_p.N1276K|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1375 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGATCAGGGTGTTGGCAGTGT 0.532 NA HNSCC(54;0.14) 50 164 0 0 0.00361 0 0 EIF2C2 27161 broad.mit.edu 37 8 141549469 141549469 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:141549469C>T uc003yvn.2 - 16 2159 c.2119G>A c.(2119-2121)GTG>ATG p.V707M EIF2C2_uc010men.2_Missense_Mutation_p.V630M|EIF2C2_uc010meo.2_Missense_Mutation_p.V707M NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 707 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) CTCTTCTGCACCACGATGAAG 0.597 NA 13 43 0 0 0.001368 0 0 PSCA 8000 broad.mit.edu 37 8 143763484 143763484 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:143763484G>T uc003ywu.2 + 3 361 c.306G>T c.(304-306)CCG>CCT p.P102P uc003ywt.1_5'Flank NM_005672 NP_005663 O43653 PSCA_HUMAN prostate stem cell antigen preproprotein 93 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CCCTGCAGCCGGCTGCTGCCA 0.662 NA 14 27 2.4624e-09 2.99344e-09 0.008871 1 0 SCRIB 23513 broad.mit.edu 37 8 144895510 144895510 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:144895510C>G uc003yzp.1 - 6 545 c.538G>C c.(538-540)GAT>CAT p.D180H SCRIB_uc003yzo.1_Missense_Mutation_p.D180H|MIR937_hsa-mir-937|MI0005759_5'Flank NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 180 LRR 7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCTCCCAGATCCAGCTGTTCC 0.652 Pancreas(51;966 1133 10533 14576 29674) NA 19 59 0 0 0.004656 0 0 DMRT1 1761 broad.mit.edu 37 9 968083 968083 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:968083C>A uc003zgv.2 + 5 1215 c.1066C>A c.(1066-1068)CCT>ACT p.P356T NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 356 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) TGAATGTGAGCCTGCGTCGGA 0.557 NA 27 55 1.08312e-15 1.46694e-15 0.009535 1 0 DMRT3 58524 broad.mit.edu 37 9 990658 990658 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:990658C>G uc003zgw.1 + 2 1110 c.1072C>G c.(1072-1074)CTG>GTG p.L358V NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 358 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GGCTGGGCCTCTGCAGCCCCC 0.582 NA 29 21 0 0 0.002445 0 0 RCL1 10171 broad.mit.edu 37 9 4844632 4844632 + Missense_Mutation SNP A A C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:4844632A>C uc003zis.2 + 7 1076 c.818A>C c.(817-819)GAG>GCG p.E273A RCL1_uc003zit.2_Missense_Mutation_p.E115A|RCL1_uc010mhk.1_Missense_Mutation_p.E115A|RCL1_uc010mhl.1_Missense_Mutation_p.E87A NM_005772 NP_005763 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 273 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) GTACTTCCAGAGGACCTTGGC 0.572 NA 49 142 0 0 0.00361 0 0 JAK2 3717 broad.mit.edu 37 9 5029897 5029897 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:5029897A>G uc010mhm.2 + 3 454 c.341A>G c.(340-342)TAC>TGC p.Y114C JAK2_uc003ziw.2_Missense_Mutation_p.Y114C NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 114 Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) AATGTACTCTACAGAATAAGG 0.328 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 24 157 0 0 0.002096 0 0 KDM4C 23081 broad.mit.edu 37 9 6888033 6888033 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:6888033A>G uc003zkh.2 + 7 1333 c.753A>G c.(751-753)GTA>GTG p.V251V KDM4C_uc010mhu.2_Silent_p.V273V|KDM4C_uc010mhw.2_Silent_p.V251V|KDM4C_uc011lmi.1_Silent_p.V251V|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.V251V|KDM4C_uc011lmk.1_Silent_p.V70V NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 251 JmjC. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 CTCCATCAGTATTGAAGAAAT 0.333 NA 93 50 0 0 0.00361 0 0 DDX58 23586 broad.mit.edu 37 9 32480281 32480281 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:32480281G>A uc003zra.2 - 12 1868 c.1710C>T c.(1708-1710)TTC>TTT p.F570F DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.F525F|DDX58_uc011lnr.1_Silent_p.F367F|DDX58_uc010mji.2_Silent_p.F499F NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 570 detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) CATTGCTGAAGAAGTCTTTCA 0.413 NA 13 113 0 0 0.004007 0 0 TAF1L 138474 broad.mit.edu 37 9 32630650 32630650 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:32630650G>C uc003zrg.1 - 1 5018 c.4928C>G c.(4927-4929)GCA>GGA p.A1643G uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1643 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTCCAAAGCTGCTTCTTTAGC 0.443 NA 116 38 0 0 0.00361 0 0 NOL6 65083 broad.mit.edu 37 9 33465774 33465774 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:33465774C>G uc003zsz.2 - 19 2587 c.2486G>C c.(2485-2487)AGA>ACA p.R829T SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R826T|NOL6_uc011lob.1_Missense_Mutation_p.R777T|NOL6_uc003ztb.1_Missense_Mutation_p.R829T NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 829 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CCTTGTGTCTCTCTCAAGGCG 0.632 NA 3 29 0 0 0.009096 0 0 CCIN 881 broad.mit.edu 37 9 36170694 36170694 + Missense_Mutation SNP C C G rs142836285 by1000genomes TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:36170694C>G uc003zzb.3 + 1 1306 c.1195C>G c.(1195-1197)CGG>GGG p.R399G NM_005893 NP_005884 Q13939 CALI_HUMAN calicin 399 Kelch 3. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton ovary(1)|skin(1) 2 STAD - Stomach adenocarcinoma(86;0.228) CTATGATGAGCGGAAGGAAGT 0.557 NA 74 31 0 0 0.00361 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745949 37745949 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:37745949C>A uc004aag.1 + 16 3964 c.3920C>A c.(3919-3921)TCT>TAT p.S1307Y FRMPD1_uc004aah.1_Missense_Mutation_p.S1307Y NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1307 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CCTGAAGTCTCTGCCAGTCTC 0.507 NA 6 35 0.00116845 0.00123451 0.001168 1 0 Unknown 0 broad.mit.edu 37 9 69067929 69067929 + Splice_Site SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:69067929G>A uc004afe.1 + 3 c.744_splice c.e3+1 uc010mnq.1_Splice_Site Homo sapiens cDNA, FLJ18209. NA TGATATGTTGGTGAGTCAGTT 0.209 NA 5 2 0 0 0.00308 0 0 TRPM6 140803 broad.mit.edu 37 9 77354675 77354675 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:77354675G>C uc004ajl.1 - 34 5689 c.5451C>G c.(5449-5451)ATC>ATG p.I1817M TRPM6_uc004ajk.1_Missense_Mutation_p.I1812M|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.I768M|TRPM6_uc010mpd.1_Missense_Mutation_p.I650M|TRPM6_uc010mpe.1_Missense_Mutation_p.I364M|TRPM6_uc004ajj.1_Missense_Mutation_p.I773M NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1817 Alpha-type protein kinase.|Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TCTCCTGGAAGATTTTATGCC 0.483 NA 16 111 0 0 0.006122 0 0 SHC3 53358 broad.mit.edu 37 9 91661855 91661855 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:91661855G>T uc004aqg.2 - 8 1324 c.1017C>A c.(1015-1017)CAC>CAA p.H339Q NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 339 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 TGTAGTATGGGTGGTCTGAGC 0.507 NA 47 18 1.08114e-33 1.68085e-33 0.00361 1 0 HEMGN 55363 broad.mit.edu 37 9 100692953 100692953 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:100692953G>A uc004axy.2 - 3 832 c.724C>T c.(724-726)CTT>TTT p.L242F HEMGN_uc004axz.2_Missense_Mutation_p.L242F NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 242 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) GGACAAGGAAGGATTTTGGGT 0.423 NA 105 81 0 0 0.00361 0 0 C9orf125 84302 broad.mit.edu 37 9 104238469 104238469 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:104238469C>G uc004bbm.2 - 2 1228 c.906G>C c.(904-906)ATG>ATC p.M302I uc004bbl.1_5'Flank NM_032342 NP_115718 Q9BRR3 CI125_HUMAN hypothetical protein LOC84302 302 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(62;0.0527) CCACCAGACCCATGCTATACA 0.567 NA 55 42 0 0 0.00361 0 0 COL27A1 85301 broad.mit.edu 37 9 116930095 116930095 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:116930095G>T uc011lxl.1 + 3 260 c.260G>T c.(259-261)GGC>GTC p.G87V COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_5'UTR NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 87 Laminin G-like.|TSP N-terminal. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GCTCCCACGGGCACCGTCATT 0.667 NA 67 34 9.2564e-22 1.34772e-21 0.00361 1 0 C9orf91 203197 broad.mit.edu 37 9 117405509 117405509 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:117405509G>T uc004bjd.3 + 9 1162 c.945G>T c.(943-945)ACG>ACT p.T315T C9orf91_uc004bje.3_Silent_p.T294T|C9orf91_uc004bjf.3_Silent_p.T214T NM_153045 NP_694590 Q5VZI3 CI091_HUMAN hypothetical protein LOC203197 315 integral to membrane pancreas(1) 1 CACGACACACGAACTCTCCGA 0.587 NA 60 32 3.86002e-21 5.57988e-21 0.00361 1 0 ASTN2 23245 broad.mit.edu 37 9 119203026 119203026 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:119203026C>G uc004bjs.1 - 22 3745 c.3644G>C c.(3643-3645)GGA>GCA p.G1215A ASTN2_uc004bjr.1_Missense_Mutation_p.G1211A|ASTN2_uc004bjt.1_Missense_Mutation_p.G1164A|ASTN2_uc004bjp.1_Missense_Mutation_p.G308A|ASTN2_uc004bjq.1_Missense_Mutation_p.G267A|ASTN2_uc011lxr.1_Missense_Mutation_p.G267A|ASTN2_uc011lxs.1_Missense_Mutation_p.G267A|ASTN2_uc011lxt.1_Missense_Mutation_p.G267A|ASTN2_uc004bjo.1_5'UTR NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1215 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CTGCTCCTTTCCACTTGTGTA 0.473 NA 8 91 0 0 0.008291 0 0 LHX6 26468 broad.mit.edu 37 9 124979357 124979357 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:124979357G>T uc010mvw.2 - 4 694 c.585C>A c.(583-585)GCC>GCA p.A195A LHX6_uc004blx.3_Silent_p.A224A|LHX6_uc004bly.3_Silent_p.A224A NM_014368 NP_055183 Q9UPM6 LHX6_HUMAN LIM homeobox protein 6 isoform 1 195 cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CGTTCTCGGCGGCCCTCTTGA 0.647 NA 43 33 1.0442e-30 1.59878e-30 0.00361 1 0 ZBTB26 57684 broad.mit.edu 37 9 125681796 125681796 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:125681796C>T uc004bnj.2 - 2 630 c.418G>A c.(418-420)GAA>AAA p.E140K ZBTB26_uc004bnk.2_Missense_Mutation_p.E140K NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTCTGTGGTTCACATCCCTCT 0.468 NA 16 50 0 0 0.00499 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134471693 134471693 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:134471693T>C uc004cbc.2 - 14 2253 c.2123A>G c.(2122-2124)GAC>GGC p.D708G RAPGEF1_uc004cbb.2_Missense_Mutation_p.D726G|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.D883G|RAPGEF1_uc004cbd.2_Missense_Mutation_p.D713G NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 708 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) ACCTTTCCTGTCAGTCTCAGT 0.607 NA 13 49 0 0 0.001855 0 0 NTNG2 84628 broad.mit.edu 37 9 135114648 135114648 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:135114648C>T uc004cbh.2 + 6 1988 c.1212C>T c.(1210-1212)AAC>AAT p.N404N NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 404 Laminin EGF-like 2. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) ATGATGAGAACGTCTGCATTG 0.632 NA 6 46 0 0 0.001984 0 0 DBH 1621 broad.mit.edu 37 9 136521726 136521726 + Missense_Mutation SNP G G T rs148439785 byFrequency TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:136521726G>T uc004cel.2 + 10 1525 c.1516G>T c.(1516-1518)GCT>TCT p.A506S uc010nao.1_Intron NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 506 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CTGCAAGAGCGCTGTGGACGC 0.612 NA 4 38 0.00024832 0.00026826 0.009096 1 0 KCNT1 57582 broad.mit.edu 37 9 138669354 138669354 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:138669354C>T uc011mdq.1 + 21 2594 c.2520C>T c.(2518-2520)AAC>AAT p.N840N KCNT1_uc011mdr.1_Silent_p.N667N|KCNT1_uc010nbf.2_Silent_p.N795N|KCNT1_uc004cgo.1_Silent_p.N589N NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 840 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TGCTGGACAACAAGTGAGGCT 0.657 NA 20 14 0 0 0.002299 0 0 CACNA1B 774 broad.mit.edu 37 9 140772602 140772602 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:140772602C>A uc004cog.2 + 1 362 c.217C>A c.(217-219)CGC>AGC p.R73S uc004cof.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 73 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CACCGTCAACCGCTCGCTCTT 0.537 NA 8 25 1.58986e-06 1.8065e-06 0.008291 1 0 P2RY8 286530 broad.mit.edu 37 X 1584597 1584597 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:1584597G>T uc004cpz.2 - 2 1103 c.855C>A c.(853-855)AAC>AAA p.N285K NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 285 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 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) CCAGACAGTTGTTGAGGCAGC 0.582 NA T CRLF2 B-ALL|Downs associated ALL 37 51 2.77807e-22 4.08016e-22 0.003214 1 0 MXRA5 25878 broad.mit.edu 37 X 3228409 3228409 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:3228409C>A uc004crg.3 - 7 7992 c.7835G>T c.(7834-7836)GGG>GTG p.G2612V NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2612 Ig-like C2-type 10. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCGGTAGGCCCCGGCGTCCAC 0.612 NA 3 25 0.004672 0.00489009 0.004672 1 0 MXRA5 25878 broad.mit.edu 37 X 3238246 3238246 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:3238246C>A uc004crg.3 - 5 5637 c.5480G>T c.(5479-5481)GGA>GTA p.G1827V NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1827 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTGGAAGCTTCCTGAGGACTG 0.488 NA 8 30 1.08611e-07 1.26254e-07 0.000978 1 0 NLGN4X 57502 broad.mit.edu 37 X 5827152 5827152 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:5827152C>A uc010ndh.2 - 4 1255 c.754G>T c.(754-756)GGC>TGC p.G252C NLGN4X_uc004crp.2_Missense_Mutation_p.G272C|NLGN4X_uc004crq.2_Missense_Mutation_p.G252C|NLGN4X_uc010ndi.2_Missense_Mutation_p.G289C|NLGN4X_uc004crr.2_Missense_Mutation_p.G252C|NLGN4X_uc010ndj.2_Missense_Mutation_p.G252C NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 252 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 GCCCCCGAGCCAAAGATGGTC 0.577 NA 5 47 0.00307968 0.00323014 0.00308 1 0 MID1 4281 broad.mit.edu 37 X 10423046 10423046 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:10423046C>G uc004cte.3 - 9 1710 c.1519G>C c.(1519-1521)GAA>CAA p.E507Q MID1_uc004ctd.3_Missense_Mutation_p.E218Q|MID1_uc004ctg.3_Missense_Mutation_p.E507Q|MID1_uc004cth.3_Missense_Mutation_p.E469Q|MID1_uc004ctk.3_Missense_Mutation_p.E507Q|MID1_uc004cti.3_Missense_Mutation_p.E507Q|MID1_uc004ctj.3_Missense_Mutation_p.E507Q|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Missense_Mutation_p.E179Q|MID1_uc004cta.3_Missense_Mutation_p.E263Q|MID1_uc004ctb.3_Missense_Mutation_p.E167Q|MID1_uc004ctc.3_Missense_Mutation_p.E274Q NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 507 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 TCATCACGTTCTACTGTCAAG 0.438 NA 28 52 0 0 0.003271 0 0 MID1 4281 broad.mit.edu 37 X 10442753 10442753 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:10442753G>T uc004cte.3 - 6 1242 c.1051C>A c.(1051-1053)CCT>ACT p.P351T MID1_uc004ctd.3_Missense_Mutation_p.P62T|MID1_uc004ctg.3_Missense_Mutation_p.P351T|MID1_uc004cth.3_Missense_Mutation_p.P313T|MID1_uc004ctk.3_Missense_Mutation_p.P351T|MID1_uc004cti.3_Missense_Mutation_p.P351T|MID1_uc004ctj.3_Missense_Mutation_p.P351T|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.P402T|MID1_uc004ctn.1_Missense_Mutation_p.P351T|MID1_uc004cto.1_Missense_Mutation_p.P313T|MID1_uc010ndw.1_Missense_Mutation_p.P62T|MID1_uc004cts.1_Missense_Mutation_p.P118T|MID1_uc004csz.3_Missense_Mutation_p.P23T|MID1_uc004cta.3_Missense_Mutation_p.P107T|MID1_uc004ctb.3_Missense_Mutation_p.P11T|MID1_uc004ctc.3_Missense_Mutation_p.P118T|MID1_uc004ctl.1_Missense_Mutation_p.P107T|MID1_uc004ctp.1_RNA|MID1_uc004ctq.1_Missense_Mutation_p.P118T|MID1_uc004ctr.1_Missense_Mutation_p.P118T|MID1_uc010ndu.1_Missense_Mutation_p.P118T|MID1_uc010ndv.1_Missense_Mutation_p.P62T NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 351 COS. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 TTGATTTCAGGAATTAGAACC 0.393 NA 20 71 1.9806e-07 2.29177e-07 0.002299 1 0 GLRA2 2742 broad.mit.edu 37 X 14599452 14599452 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:14599452G>T uc010nep.2 + 5 750 c.418G>T c.(418-420)GCC>TCC p.A140S GLRA2_uc010neq.2_Missense_Mutation_p.A140S|GLRA2_uc004cwe.3_Missense_Mutation_p.A140S|GLRA2_uc011mio.1_Missense_Mutation_p.A51S|GLRA2_uc011mip.1_Missense_Mutation_p.A118S NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 140 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TGAGAAGGGTGCCAACTTCCA 0.483 NA 49 56 4.09106e-26 6.16102e-26 0.00361 1 0 ACE2 59272 broad.mit.edu 37 X 15599456 15599456 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:15599456G>A uc004cxa.1 - 8 1126 c.958C>T c.(958-960)CTT>TTT p.L320F ACE2_uc004cxb.2_Missense_Mutation_p.L320F NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 320 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) ATATTAGGAAGACCAACAGAT 0.458 NA 28 97 0 0 0.002445 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398254 23398254 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:23398254G>T uc004dal.3 + 2 906 c.898G>T c.(898-900)GGC>TGC p.G300C PTCHD1_uc010nfu.1_Missense_Mutation_p.G300C NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 300 Helical; (Potential).|SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 ACCCTGGCTAGGCCTGCTCGG 0.547 NA 25 92 3.73988e-18 5.26296e-18 0.00632 1 0 POLA1 5422 broad.mit.edu 37 X 24735405 24735405 + Splice_Site SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:24735405A>T uc004dbl.2 + 9 712 c.689_splice c.e9-2 p.G230_splice POLA1_uc004dbm.2_Splice_Site_p.G236_splice|POLA1_uc004dbn.2_Splice_Site_p.G94_splice NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) TGATGCCTACAGGCGATGATG 0.358 NA 10 46 0 0 0.00245 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938085 29938085 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:29938085G>A uc004dby.2 + 8 1439 c.931G>A c.(931-933)GGG>AGG p.G311R NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 311 Extracellular (Potential).|Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GGAGCATCTTGGGGAACAGGA 0.368 NA 15 71 0 0 0.008871 0 0 DMD 1756 broad.mit.edu 37 X 31196064 31196064 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:31196064C>A uc004dda.1 - 71 10491 c.10247G>T c.(10246-10248)TGG>TTG p.W3416L DMD_uc004dcq.1_Missense_Mutation_p.W687L|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Missense_Mutation_p.W956L|DMD_uc004dcu.1_Missense_Mutation_p.W956L|DMD_uc004dcv.1_Intron|DMD_uc004dcw.2_Missense_Mutation_p.W2072L|DMD_uc004dcx.2_Missense_Mutation_p.W2075L|DMD_uc004dcz.2_Missense_Mutation_p.W3293L|DMD_uc004dcy.1_Missense_Mutation_p.W3412L|DMD_uc004ddb.1_Missense_Mutation_p.W3408L|DMD_uc004dcm.1_Missense_Mutation_p.W348L|DMD_uc004dcn.1_Intron|DMD_uc004dco.1_Missense_Mutation_p.W348L|DMD_uc004dcp.1_Intron|DMD_uc011mkb.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3416 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ATCTACTGGCCAGAAGTTGAT 0.413 NA 6 26 3.09899e-07 3.55731e-07 0.004482 1 0 DMD 1756 broad.mit.edu 37 X 31496470 31496470 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:31496470G>T uc004dda.1 - 59 8934 c.8690C>A c.(8689-8691)GCC>GAC p.A2897D DMD_uc004dcq.1_Missense_Mutation_p.A168D|DMD_uc004dcr.1_Missense_Mutation_p.A437D|DMD_uc004dcs.1_Missense_Mutation_p.A437D|DMD_uc004dct.1_Missense_Mutation_p.A437D|DMD_uc004dcu.1_Missense_Mutation_p.A437D|DMD_uc004dcv.1_Missense_Mutation_p.A437D|DMD_uc004dcw.2_Missense_Mutation_p.A1553D|DMD_uc004dcx.2_Missense_Mutation_p.A1556D|DMD_uc004dcz.2_Missense_Mutation_p.A2774D|DMD_uc004dcy.1_Missense_Mutation_p.A2893D|DMD_uc004ddb.1_Missense_Mutation_p.A2889D NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2897 Spectrin 20. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GACATTCTGGGCTCTCTCCTC 0.433 NA 13 57 1.45105e-14 1.9341e-14 0.006122 1 0 DMD 1756 broad.mit.edu 37 X 32490297 32490297 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:32490297C>A uc004dda.1 - 22 3177 c.2933G>T c.(2932-2934)AGA>ATA p.R978I DMD_uc004dcz.2_Missense_Mutation_p.R855I|DMD_uc004dcy.1_Missense_Mutation_p.R974I|DMD_uc004ddb.1_Missense_Mutation_p.R970I|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 978 Spectrin 6. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTCCCCGAGTCTCTGCTCCAT 0.403 NA 24 114 3.73808e-20 5.36518e-20 0.005443 1 0 DMD 1756 broad.mit.edu 37 X 32591661 32591661 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:32591661G>T uc004dda.1 - 15 2042 c.1798C>A c.(1798-1800)CTT>ATT p.L600I DMD_uc004dcz.2_Missense_Mutation_p.L477I|DMD_uc004dcy.1_Missense_Mutation_p.L596I|DMD_uc004ddb.1_Missense_Mutation_p.L592I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L592I|DMD_uc010ngp.1_3'UTR|DMD_uc010ngq.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 600 Spectrin 3. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGTTTTTGAAGACTTGATAAC 0.338 NA 24 36 9.39395e-14 1.24064e-13 0.00632 1 0 FAM47C 442444 broad.mit.edu 37 X 37028281 37028281 + Nonsense_Mutation SNP G G T rs145080907 byFrequency TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:37028281G>T uc004ddl.1 + 1 1812 c.1798G>T c.(1798-1800)GAG>TAG p.E600* NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 600 ovary(3) 3 GGAGCCCCCCGAGACTGGAGT 0.647 NA 28 35 9.8876e-21 1.42117e-20 0.004878 1 0 XK 7504 broad.mit.edu 37 X 37587552 37587552 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:37587552G>T uc004ddq.2 + 3 1254 c.1172G>T c.(1171-1173)TGG>TTG p.W391L NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 391 Cytoplasmic (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) TTTCAGAGGTGGCTCAGGTGT 0.473 NA 25 23 2.79863e-10 3.46481e-10 0.004656 1 0 SYTL5 94122 broad.mit.edu 37 X 37961679 37961680 + Missense_Mutation DNP CT CT AA TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:37961679_37961680CT>AA uc004ddu.2 + 11 1681_1682 c.1147_1148CT>AA c.(1147-1149)CTA>AAA p.L383K SYTL5_uc004ddv.2_Missense_Mutation_p.L383K|SYTL5_uc004ddx.2_Missense_Mutation_p.L383K NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 383 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 GGCAAGTGGCCTATCAACTGTA 0.406 NA 5 64 0 0 0.004672 0 0 OTC 5009 broad.mit.edu 37 X 38262994 38262994 + Splice_Site SNP G G T rs68170503 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:38262994G>T uc004def.3 + 6 877 c.663_splice c.e6+1 p.K221_splice NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) TACTCCAAAGGTAGGGAAACT 0.453 NA 17 54 8.00594e-06 8.95565e-06 0.007413 1 0 MAOB 4129 broad.mit.edu 37 X 43626797 43626797 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:43626797G>C uc004dfz.3 - 15 1655 c.1479C>G c.(1477-1479)CTC>CTG p.L493L MAOB_uc011mkx.1_3'UTR|MAOB_uc011mky.1_Silent_p.L477L NM_000898 NP_000889 P27338 AOFB_HUMAN monoamine oxidase B 493 Helical; Anchor for type IV membrane protein. xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity ovary(1)|central_nervous_system(1) 2 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) CAATCAGCCTGAGCAGGCCTG 0.522 NA 25 43 0 0 0.009535 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49032082 49032082 + Silent SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:49032082G>C uc004dmy.1 - 9 1814 c.1788C>G c.(1786-1788)CCC>CCG p.P596P PRICKLE3_uc011mmv.1_Silent_p.P528P|PRICKLE3_uc011mmw.1_Silent_p.P515P|PRICKLE3_uc011mmx.1_Silent_p.P558P NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 596 protein binding|zinc ion binding breast(1) 1 GAGAGTCCCTGGGGAGCGATA 0.612 NA 8 51 0 0 0.006214 0 0 PAGE1 8712 broad.mit.edu 37 X 49454072 49454072 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:49454072C>T uc004dom.2 - 5 500 c.367G>A c.(367-369)GTC>ATC p.V123I NM_003785 NP_003776 O75459 GAGB1_HUMAN P antigen family, member 1 123 cellular defense response skin(1) 1 Ovarian(276;0.236) AACTCCTGGACATCAGGACCA 0.483 NA 34 148 0 0 0.005524 0 0 HUWE1 10075 broad.mit.edu 37 X 53617988 53617988 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:53617988G>T uc004dsp.2 - 34 4469 c.4067C>A c.(4066-4068)CCT>CAT p.P1356H HUWE1_uc004dsn.2_Missense_Mutation_p.P181H NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1356 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GATTGGAGGAGGGTGGGTTAA 0.483 NA 16 63 5.3912e-06 6.05086e-06 0.006122 1 0 HUWE1 10075 broad.mit.edu 37 X 53672342 53672342 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:53672342C>G uc004dsp.2 - 7 827 c.425G>C c.(424-426)AGC>ACC p.S142T NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 142 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TGATCTTTTGCTAAATACATA 0.453 NA 7 67 0 0 0.006214 0 0 APEX2 27301 broad.mit.edu 37 X 55033271 55033271 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:55033271G>C uc004dtz.2 + 6 1036 c.960G>C c.(958-960)CAG>CAC p.Q320H APEX2_uc011mom.1_Missense_Mutation_p.Q149H NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 320 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 CTGCAAAACAGTGCCCACCTC 0.567 NA Other_BER_factors 6 41 0 0 0.001168 0 0 ALAS2 212 broad.mit.edu 37 X 55047622 55047622 + Silent SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:55047622A>T uc004dua.3 - 5 639 c.501T>A c.(499-501)ACT>ACA p.T167T ALAS2_uc004dub.3_Silent_p.T154T|ALAS2_uc004dud.3_Silent_p.T130T NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 167 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) AGCGGTTCACAGTCTTGAACA 0.473 NA 33 82 0 0 0.005524 0 0 FAM104B 90736 broad.mit.edu 37 X 55185586 55185586 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:55185586G>T uc004duh.1 - 2 116 c.96C>A c.(94-96)ATC>ATA p.I32I FAM104B_uc004dug.1_Silent_p.I32I|FAM104B_uc004dui.3_Silent_p.I32I NM_138362 NP_612371 Q5XKR9 F104B_HUMAN hypothetical protein LOC90736 32 0 AATCCTGAAAGATAGGGTTTC 0.378 NA 26 45 4.22769e-11 5.32552e-11 0.00632 1 0 RRAGB 10325 broad.mit.edu 37 X 55784772 55784772 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:55784772G>C uc004dup.2 + 11 1772 c.1121G>C c.(1120-1122)CGC>CCC p.R374P RRAGB_uc004duq.2_Missense_Mutation_p.R346P NM_016656 NP_057740 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B long isoform 374 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding 0 CTTCTCATGCGCTAAACATTG 0.383 NA 7 34 0 0 0.001984 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722499 64722499 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:64722499A>T uc010nko.2 + 5 1897 c.1888A>T c.(1888-1890)AGC>TGC p.S630C NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 630 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 ACGAGTGCAGAGCTATGGCCC 0.537 NA 4 14 0 0 0.000602 0 0 HEPH 9843 broad.mit.edu 37 X 65418786 65418786 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:65418786A>T uc011moz.1 + 11 1849 c.1789A>T c.(1789-1791)AAT>TAT p.N597Y HEPH_uc004dwn.2_Missense_Mutation_p.N597Y|HEPH_uc004dwo.2_Missense_Mutation_p.N327Y|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.N597Y NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 594 Plastocyanin-like 4.|Extracellular (Potential). cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CTGGTACAGCAATGCCAATCA 0.448 NA 15 61 0 0 0.003163 0 0 EDA 1896 broad.mit.edu 37 X 68836455 68836455 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:68836455C>A uc004dxs.2 + 1 545 c.303C>A c.(301-303)CCC>CCA p.P101P EDA_uc004dxr.2_Silent_p.P101P|EDA_uc011mpj.1_Silent_p.P101P|EDA_uc004dxn.1_Silent_p.P101P|EDA_uc004dxm.1_Silent_p.P101P|EDA_uc004dxp.1_Silent_p.P101P|EDA_uc004dxq.1_Silent_p.P101P|EDA_uc004dxl.1_Silent_p.P101P NM_001399 NP_001390 Q92838 EDA_HUMAN ectodysplasin A isoform EDA-A1 101 Extracellular (Potential). cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding ovary(2)|large_intestine(1) 3 CTGACAGCCCCATCACCAGTC 0.677 NA 20 37 1.87028e-06 2.12035e-06 0.001882 1 0 KIF4A 24137 broad.mit.edu 37 X 69623835 69623835 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:69623835C>A uc004dyg.2 + 24 2868 c.2741C>A c.(2740-2742)ACA>AAA p.T914K KIF4A_uc010nkw.2_Missense_Mutation_p.T914K NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 914 Potential.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 GAGATAGAGACAGAGTTACAA 0.448 NA 12 55 3.27435e-08 3.86864e-08 0.00245 1 0 SLC7A3 84889 broad.mit.edu 37 X 70147815 70147815 + Silent SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:70147815C>G uc004dyn.2 - 6 1034 c.876G>C c.(874-876)CTG>CTC p.L292L SLC7A3_uc004dyo.2_Silent_p.L292L NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 292 Helical; Name=7; (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGCAGACAGACAGTGAGATCA 0.517 NA 10 47 0 0 0.00245 0 0 ACRC 93953 broad.mit.edu 37 X 70824337 70824337 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:70824337G>C uc004eae.2 + 8 1711 c.1210G>C c.(1210-1212)GCA>CCA p.A404P BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 404 nucleus ovary(3) 3 Renal(35;0.156) GGAAGAGCCTGCACCTGTGGT 0.478 NA 4 5 0 0 0.001168 0 0 RGAG4 340526 broad.mit.edu 37 X 71351063 71351064 + Missense_Mutation DNP CC CC AA TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:71351063_71351064CC>AA uc010nlh.1 - 1 688_689 c.327_328GG>TT c.(325-330)CAGGAT>CATTAT p.109_110QD>HY NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 109_110 ovary(2)|skin(1) 3 Renal(35;0.156) GTGCTGCGATCCTGGATCACGT 0.683 NA 9 8 0 0 0.004672 0 0 SRPX2 27286 broad.mit.edu 37 X 99901370 99901370 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:99901370A>G uc004egb.2 + 2 531 c.51A>G c.(49-51)CTA>CTG p.L17L NM_014467 NP_055282 O60687 SRPX2_HUMAN sushi-repeat-containing protein, X-linked 2 17 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 TGTTCTTCCTAACTCCGGCAG 0.463 NA 5 94 0 0 0.001168 0 0 ARL13A 392509 broad.mit.edu 37 X 100240690 100240690 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:100240690G>T uc004ego.2 + 4 281 c.165G>T c.(163-165)TCG>TCT p.S55S ARL13A_uc011mrf.1_Silent_p.S55S|ARL13A_uc010nng.2_Silent_p.S55S NM_001012990 NP_001013008 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13 isoform a 55 GTP binding ovary(1) 1 GCATGAAATCGGAACTGACTA 0.448 NA 3 57 0.004672 0.00489009 0.004672 1 0 HNRNPH2 3188 broad.mit.edu 37 X 100667366 100667366 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:100667366C>G uc004ehm.2 + 2 560 c.390C>G c.(388-390)TTC>TTG p.F130L HNRNPH2_uc004ehn.2_Missense_Mutation_p.F130L NM_019597 NP_062543 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 130 RRM 2. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding 0 TTGTTCAGTTCTTTTCAGGGT 0.507 NA 21 65 0 0 0.001882 0 0 ESX1 80712 broad.mit.edu 37 X 103494976 103494976 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:103494976C>G uc004ely.2 - 4 1212 c.1154G>C c.(1153-1155)GGC>GCC p.G385A NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 385 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGGAGCCAGGCCAGTGTGAGG 0.582 Pancreas(200;1705 2227 25194 28471 45274) NA 11 17 0 0 0.00245 0 0 MID2 11043 broad.mit.edu 37 X 107169377 107169377 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:107169377A>T uc004enl.2 + 9 2224 c.1651A>T c.(1651-1653)AAT>TAT p.N551Y MID2_uc004enk.2_Missense_Mutation_p.N521Y NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 551 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 GAAGATCTCCAATGATGGATT 0.403 NA 45 31 0 0 0.003214 0 0 PSMD10 5716 broad.mit.edu 37 X 107328312 107328312 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:107328312C>A uc004enp.1 - 5 671 c.573G>T c.(571-573)CTG>CTT p.L191L PSMD10_uc004enq.1_3'UTR NM_002814 NP_002805 O75832 PSD10_HUMAN proteasome 26S non-ATPase subunit 10 isoform 1 191 ANK 6.|Interaction with RELA.|Interaction with RB1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding ovary(1) 1 CTTGGGACACCAGCAGTTTTG 0.443 NA 7 126 3.09899e-07 3.55731e-07 0.004482 1 0 IRS4 8471 broad.mit.edu 37 X 107978597 107978597 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:107978597C>T uc004eoc.2 - 1 1011 c.978G>A c.(976-978)GAG>GAA p.E326E NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 326 IRS-type PTB. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CTCTCATCTTCTCCAAAAACA 0.567 NA 28 122 0 0 0.002096 0 0 DOCK11 139818 broad.mit.edu 37 X 117733145 117733145 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:117733145A>T uc004eqp.2 + 23 2579 c.2516A>T c.(2515-2517)CAG>CTG p.Q839L DOCK11_uc004eqq.2_Missense_Mutation_p.Q605L NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 839 DHR-1. blood coagulation cytosol GTP binding ovary(3) 3 CAGCTGATTCAGTCAGGCTCG 0.393 NA 22 30 0 0 0.005443 0 0 ODZ1 10178 broad.mit.edu 37 X 123556172 123556172 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:123556172G>T uc004euj.2 - 23 4464 c.4400C>A c.(4399-4401)GCC>GAC p.A1467D ODZ1_uc011muj.1_Missense_Mutation_p.A1473D|ODZ1_uc010nqy.2_Missense_Mutation_p.A1474D NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1467 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GTCAGTGGGGGCACCAGCGAT 0.468 NA 55 41 4.09171e-25 6.1073e-25 0.00361 1 0 GPR112 139378 broad.mit.edu 37 X 135428925 135428925 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:135428925T>C uc004ezu.1 + 6 3351 c.3060T>C c.(3058-3060)AAT>AAC p.N1020N GPR112_uc010nsb.1_Silent_p.N815N|GPR112_uc010nsc.1_Silent_p.N787N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1020 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) TGCCAGTTAATGGCAGTTCTG 0.493 NA 10 152 0 0 0.001855 0 0 GPR112 139378 broad.mit.edu 37 X 135429137 135429137 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:135429137C>T uc004ezu.1 + 6 3563 c.3272C>T c.(3271-3273)GCC>GTC p.A1091V GPR112_uc010nsb.1_Missense_Mutation_p.A886V|GPR112_uc010nsc.1_Missense_Mutation_p.A858V NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1091 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) ACTTCAGAGGCCACGGTAATC 0.478 NA 83 70 0 0 0.00361 0 0 ZIC3 7547 broad.mit.edu 37 X 136649620 136649620 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:136649620A>G uc004fak.2 + 1 1275 c.770A>G c.(769-771)GAC>GGC p.D257G NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 257 C2H2-type 1; atypical. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AAGTGGATCGACGAGGCTCAG 0.622 NA 10 56 0 0 0.001368 0 0 MCF2 4168 broad.mit.edu 37 X 138672050 138672050 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:138672050C>A uc004fau.2 - 20 2608 c.2314G>T c.(2314-2316)GAT>TAT p.D772Y MCF2_uc004fav.2_Missense_Mutation_p.D788Y|MCF2_uc011mwl.1_Missense_Mutation_p.D749Y|MCF2_uc010nsh.1_Missense_Mutation_p.D772Y|MCF2_uc011mwm.1_Missense_Mutation_p.D733Y|MCF2_uc011mwn.1_Missense_Mutation_p.D917Y|MCF2_uc004faw.2_Missense_Mutation_p.D832Y|MCF2_uc011mwo.1_Missense_Mutation_p.D848Y NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 772 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TTGCGGTTATCACCTTTTACA 0.299 NA 26 37 9.17885e-22 1.3403e-21 0.003271 1 0 MAGEC3 139081 broad.mit.edu 37 X 140984910 140984910 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:140984910C>A uc011mwp.1 + 7 1366 c.1366C>A c.(1366-1368)CTG>ATG p.L456M MAGEC3_uc004fbs.2_Missense_Mutation_p.L158M|MAGEC3_uc010nsj.2_Missense_Mutation_p.L158M NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 456 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAGGTATGCCCTGGATGAAAA 0.483 NA 4 42 0.00909568 0.00941286 0.009096 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291758 141291758 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:141291758C>A uc004fbu.1 - 3 364 c.16G>T c.(16-18)GGC>TGC p.G6C NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 6 G -> C (in a breast cancer sample; somatic mutation). cytoplasm|nucleus p.G6C(2) breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) AATGGAACGCCTGGAACGGGA 0.527 NA HNSCC(46;0.14) 5 82 0.000157383 0.000170569 0.00308 1 0 AFF2 2334 broad.mit.edu 37 X 148037617 148037617 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:148037617G>A uc004fcp.2 + 11 2521 c.2042G>A c.(2041-2043)AGG>AAG p.R681K AFF2_uc004fcq.2_Missense_Mutation_p.R671K|AFF2_uc004fcr.2_Missense_Mutation_p.R642K|AFF2_uc011mxb.1_Missense_Mutation_p.R646K|AFF2_uc004fcs.2_Missense_Mutation_p.R648K|AFF2_uc011mxc.1_Missense_Mutation_p.R322K NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 681 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CCAGCCCCTAGGAAAGAACCA 0.493 NA 41 26 0 0 0.00361 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935687 151935687 + Silent SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:151935687C>A uc004fgp.2 - 3 689 c.480G>T c.(478-480)CTG>CTT p.L160L NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 160 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) TGCCAAAGACCAGCTGCAAGG 0.547 NA 34 48 5.8336e-16 7.96496e-16 0.003271 1 0 PNMA5 114824 broad.mit.edu 37 X 152159695 152159695 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:152159695G>A uc010ntw.2 - 3 787 c.448C>T c.(448-450)CCG>TCG p.P150S PNMA5_uc004fha.3_Missense_Mutation_p.P150S|PNMA5_uc010ntx.2_Missense_Mutation_p.P150S|PNMA5_uc004fgy.3_Missense_Mutation_p.P150S NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 150 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CTTTCTTTCGGAGGCTCTAAA 0.368 NA 8 158 0 0 0.004482 0 0 PLXNA3 55558 broad.mit.edu 37 X 153692505 153692505 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:153692505C>T uc004flm.2 + 8 1850 c.1677C>T c.(1675-1677)ACC>ACT p.T559T NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 559 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCAGCTGACCGTCACCCTGC 0.697 NA 10 7 0 0 0.001368 0 0 TMLHE 55217 broad.mit.edu 37 X 154736707 154736707 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chrX:154736707G>T uc004fnn.2 - 6 1013 c.847C>A c.(847-849)CAA>AAA p.Q283K TMLHE_uc004fno.2_Missense_Mutation_p.Q283K|TMLHE_uc004fnp.3_Missense_Mutation_p.Q283K NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 283 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) GGTGCCTTTTGAAGTACCTGT 0.408 NA 5 98 0.000602214 0.00064368 0.000602 1 0 TAS1R2 80834 broad.mit.edu 37 1 19166744 19166744 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:19166744delC uc001bba.1 - 6 1870 c.1869delG c.(1867-1869)GGGfs p.G623fs NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 623 Helical; Name=2; (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCTTGGGCGGCCCCACGTACA 0.607 NA 12 94 --- --- --- --- NA NA NA NA NA LRRC7 57554 broad.mit.edu 37 1 70541908 70541908 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:70541908delC uc001dep.2 + 22 4295 c.4265delC c.(4264-4266)ACCfs p.T1422fs LRRC7_uc009wbg.2_Frame_Shift_Del_p.T706fs|LRRC7_uc001deq.2_Frame_Shift_Del_p.T616fs NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1422 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TCACAGGCCACCCGGGGACCT 0.483 NA 31 67 --- --- --- --- NA NA NA NA NA XPR1 9213 broad.mit.edu 37 1 180775672 180775672 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:180775672delC uc001goi.2 + 6 852 c.660delC c.(658-660)GTCfs p.V220fs XPR1_uc009wxm.2_Frame_Shift_Del_p.V220fs|XPR1_uc009wxn.2_Frame_Shift_Del_p.V220fs NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 220 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 GTTTACGTGTCCCCCCTTTGG 0.393 NA 49 133 --- --- --- --- NA NA NA NA NA PTPRC 5788 broad.mit.edu 37 1 198673612 198673613 + In_Frame_Ins INS - - GTG TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr1:198673612_198673613insGTG uc001gur.1 + 8 844_845 c.664_665insGTG c.(664-666)TCT>TGTGCT p.222_222S>CA PTPRC_uc001gus.1_In_Frame_Ins_p.174_174S>CA|PTPRC_uc001gut.1_In_Frame_Ins_p.61_61S>CA|PTPRC_uc009wzf.1_In_Frame_Ins_p.110_110S>CA|PTPRC_uc010ppg.1_In_Frame_Ins_p.158_158S>CA NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 222 Extracellular (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TACTACTCCATCTAAGCCAACA 0.317 NA 10 58 --- --- --- --- NA NA NA NA NA MGEA5 10724 broad.mit.edu 37 10 103577682 103577682 + Frame_Shift_Del DEL G G - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr10:103577682delG uc001ktv.2 - 1 541 c.98delC c.(97-99)GCAfs p.A33fs MGEA5_uc010qqe.1_Frame_Shift_Del_p.A33fs|MGEA5_uc009xws.2_Frame_Shift_Del_p.A33fs|MGEA5_uc001ktw.2_Frame_Shift_Del_p.A33fs|MGEA5_uc009xwt.2_5'UTR|MGEA5_uc010qqf.1_RNA NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 33 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TGCCGGAGCTGCCGGCGGCTC 0.716 NA 2 4 --- --- --- --- NA NA NA NA NA NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GAG GAG - - GAG GAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:281553_281555delGAG uc010qvs.1 + 4 1819_1821 c.1819_1821delGAG c.(1819-1821)GAGdel p.E611del NLRP6_uc010qvt.1_In_Frame_Del_p.E611del NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.67 NA 7 189 --- --- --- --- NA NA NA NA NA TP53I11 9537 broad.mit.edu 37 11 44956516 44956516 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:44956516delC uc001myi.2 - 10 1094 c.489delG c.(487-489)CTGfs p.L163fs TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Frame_Shift_Del_p.L163fs|TP53I11_uc001myk.2_Frame_Shift_Del_p.L163fs|TP53I11_uc001myl.2_Frame_Shift_Del_p.L163fs|TP53I11_uc001mym.2_Frame_Shift_Del_p.L110fs NM_006034 NP_006025 O14683 P5I11_HUMAN p53-induced protein 163 Poly-Leu.|Helical; (Potential). negative regulation of cell proliferation|response to stress integral to membrane ovary(1) 1 TGACCAGGAGCAGCAGGATCC 0.602 NA 28 140 --- --- --- --- NA NA NA NA NA STX5 6811 broad.mit.edu 37 11 62591720 62591724 + Frame_Shift_Del DEL TGTTC TGTTC - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 TGTTC TGTTC - - TGTTC TGTTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:62591720_62591724delTGTTC uc001nvh.2 - 10 976_980 c.822_826delGAACA c.(820-828)CAGAACATTfs p.Q274fs STX5_uc010rmi.1_Frame_Shift_Del_p.Q178fs|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Frame_Shift_Del_p.Q220fs|STX5_uc010rmj.1_Frame_Shift_Del_p.Q274fs|STX5_uc001nvj.2_Frame_Shift_Del_p.Q89fs NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 274_276 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 GTCGACTCAATGTTCTGCATGGTGT 0.493 NA 12 159 --- --- --- --- NA NA NA NA NA CTSF 8722 broad.mit.edu 37 11 66331419 66331420 + Frame_Shift_Del DEL CG CG - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr11:66331419_66331420delCG uc001oip.2 - 13 1529_1530 c.1439_1440delCG c.(1438-1440)TCGfs p.S480fs NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 480 SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9). proteolysis lysosome cysteine-type endopeptidase activity 0 CCACCACCGCCGAGCTGGCCAT 0.673 NA 10 41 --- --- --- --- NA NA NA NA NA B4GALNT1 2583 broad.mit.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr12:58025102_58025103insC uc001spg.1 - 3 695_696 c.263_264insG c.(262-264)GGCfs p.G88fs B4GALNT1_uc010sru.1_Intron|B4GALNT1_uc010srv.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001sph.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 88 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGAGGGGGAGGCCCCCCCCACT 0.589 NA 9 298 --- --- --- --- NA NA NA NA NA NFATC4 4776 broad.mit.edu 37 14 24845275 24845275 + Frame_Shift_Del DEL G G - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:24845275delG uc001wpc.2 + 8 2345 c.2024delG c.(2023-2025)CGCfs p.R675fs NFATC4_uc010tok.1_Frame_Shift_Del_p.R738fs|NFATC4_uc010tol.1_Frame_Shift_Del_p.R738fs|NFATC4_uc010alr.2_Frame_Shift_Del_p.R738fs|NFATC4_uc010tom.1_Frame_Shift_Del_p.R688fs|NFATC4_uc010ton.1_Frame_Shift_Del_p.R688fs|NFATC4_uc010too.1_Frame_Shift_Del_p.R688fs|NFATC4_uc010alt.2_Frame_Shift_Del_p.R707fs|NFATC4_uc010top.1_Frame_Shift_Del_p.R707fs|NFATC4_uc010toq.1_Frame_Shift_Del_p.R707fs|NFATC4_uc010tor.1_Frame_Shift_Del_p.R675fs|NFATC4_uc010tos.1_Frame_Shift_Del_p.R605fs|NFATC4_uc010tot.1_Frame_Shift_Del_p.R663fs|NFATC4_uc010tou.1_Frame_Shift_Del_p.R605fs|NFATC4_uc010tov.1_Frame_Shift_Del_p.R663fs|NFATC4_uc010tow.1_Frame_Shift_Del_p.R605fs|NFATC4_uc010alv.2_Frame_Shift_Del_p.R663fs|NFATC4_uc010tox.1_Frame_Shift_Del_p.R605fs|NFATC4_uc001wpd.2_Frame_Shift_Del_p.R210fs|NFATC4_uc010toy.1_Frame_Shift_Del_p.R210fs|NFATC4_uc010toz.1_Frame_Shift_Del_p.R210fs|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 675 IPT/TIG. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) CGGAGGAAACGCAGTCCTACC 0.587 NA 64 173 --- --- --- --- NA NA NA NA NA FLRT2 23768 broad.mit.edu 37 14 86088794 86088795 + Frame_Shift_Ins INS - - T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr14:86088794_86088795insT uc001xvr.2 + 2 1703_1704 c.936_937insT c.(934-939)TGGTTTfs p.W312fs FLRT2_uc010atd.2_Frame_Shift_Ins_p.W312fs NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 312_313 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) ATAACCCTTGGTTTTGTGACTG 0.47 NA 69 248 --- --- --- --- NA NA NA NA NA NAGPA 51172 broad.mit.edu 37 16 5083678 5083679 + Frame_Shift_Del DEL GC GC - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:5083678_5083679delGC uc002cyg.2 - 2 158_159 c.137_138delGC c.(136-138)CGCfs p.R46fs ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_5'UTR|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_5'UTR|NAGPA_uc010uxx.1_Frame_Shift_Del_p.R46fs NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester 46 Lumenal (Potential). carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity 0 N-Acetyl-D-glucosamine(DB00141) CCCGGGGGAGGCGCGCGCGCGC 0.767 NA 8 37 --- --- --- --- NA NA NA NA NA CBFA2T3 863 broad.mit.edu 37 16 88943549 88943549 + Frame_Shift_Del DEL G G - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr16:88943549delG uc002fmm.1 - 12 1983 c.1797delC c.(1795-1797)CCCfs p.P599fs CBFA2T3_uc002fml.1_Frame_Shift_Del_p.P513fs|CBFA2T3_uc002fmk.1_Frame_Shift_Del_p.P98fs NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 599 cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) CCACGGCTGTGGGGCCCTGCA 0.721 NA T RUNX1 AML 5 6 --- --- --- --- NA NA NA NA NA ITGAE 3682 broad.mit.edu 37 17 3680872 3680873 + Frame_Shift_Ins INS - - C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:3680872_3680873insC uc002fwo.3 - 2 215_216 c.116_117insG c.(115-117)AGCfs p.S39fs NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 39 FG-GAP 1.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GCAGAAGGGAGCTGAGCACGAA 0.634 NSCLC(182;635 2928 8995 38788) NA 25 48 --- --- --- --- NA NA NA NA NA PLD2 5338 broad.mit.edu 37 17 4711650 4711651 + In_Frame_Ins INS - - AGG TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:4711650_4711651insAGG uc002fzc.2 + 4 423_424 c.322_323insAGG c.(322-324)CAG>CAGGAG p.109_110insE PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_In_Frame_Ins_p.109_110insE NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 109_110 PX. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) CCGTCATTTTCAGGAGCTGCAT 0.55 NA 33 218 --- --- --- --- NA NA NA NA NA SLFN5 162394 broad.mit.edu 37 17 33586549 33586549 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:33586549delC uc002hjf.3 + 2 957 c.840delC c.(838-840)TTCfs p.F280fs SLFN5_uc002hje.2_Frame_Shift_Del_p.F280fs|SLFN5_uc010wcg.1_Frame_Shift_Del_p.F280fs NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 280 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TCCTTAACTTCCTTGAAGTGC 0.473 NA 29 189 --- --- --- --- NA NA NA NA NA DDX52 11056 broad.mit.edu 37 17 35981260 35981260 + Frame_Shift_Del DEL C C - rs146778713 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:35981260delC uc002hoi.1 - 11 1451 c.1413delG c.(1411-1413)TTGfs p.L471fs DDX52_uc002hoh.1_Frame_Shift_Del_p.L363fs NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN ATP-dependent RNA helicase ROK1 isoform a 471 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|skin(1) 2 Breast(25;0.00637)|Ovarian(249;0.15) CTCTTGCTAGCAAGGCTGTAC 0.373 NA 39 48 --- --- --- --- NA NA NA NA NA KCNJ2 3759 broad.mit.edu 37 17 68172112 68172112 + Frame_Shift_Del DEL G G - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr17:68172112delG uc010dfg.2 + 2 1333 c.932delG c.(931-933)TGCfs p.C311fs KCNJ2_uc002jir.2_Frame_Shift_Del_p.C311fs NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 311 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) ACGACACAGTGCCGTAGCTCT 0.468 NA 11 86 --- --- --- --- NA NA NA NA NA SETBP1 26040 broad.mit.edu 37 18 42530239 42530240 + Frame_Shift_Ins INS - - A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:42530239_42530240insA uc010dni.2 + 4 1230_1231 c.934_935insA c.(934-936)CAGfs p.Q312fs NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 312 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAACGGGCTTCAGCCCTTGGTG 0.535 NA Schinzel-Giedion_syndrome 16 118 --- --- --- --- NA NA NA NA NA LIPG 9388 broad.mit.edu 37 18 47110077 47110077 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr18:47110077delC uc002ldv.2 + 8 1561 c.1309delC c.(1309-1311)CCCfs p.P437fs LIPG_uc010xdh.1_Frame_Shift_Del_p.P363fs NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 437 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CCTGTCTCAACCCCGCAACCC 0.592 Pancreas(126;280 1778 12814 26243 34948) NA 8 49 --- --- --- --- NA NA NA NA NA EVC2 132884 broad.mit.edu 37 4 5620294 5620294 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:5620294delC uc003gij.2 - 15 2671 c.2617delG c.(2617-2619)GCCfs p.A873fs EVC2_uc011bwb.1_Frame_Shift_Del_p.A313fs|EVC2_uc003gik.2_Frame_Shift_Del_p.A793fs NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 873 integral to membrane large_intestine(3)|ovary(2) 5 AGAACTCGGGCCCGGATCTTG 0.602 NA 34 29 --- --- --- --- NA NA NA NA NA LGI2 55203 broad.mit.edu 37 4 25005529 25005530 + Frame_Shift_Ins INS - - T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:25005529_25005530insT uc003grf.2 - 8 1280_1281 c.1181_1182insA c.(1180-1182)CAGfs p.Q394fs NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 394 EAR 4. extracellular region 0 Breast(46;0.173) TGATGGGGACCTGGGAGCGGCT 0.51 NA 76 173 --- --- --- --- NA NA NA NA NA RBM47 54502 broad.mit.edu 37 4 40434703 40434711 + In_Frame_Del DEL CAGCGGCTG CAGCGGCTG - rs139347188 TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CAGCGGCTG CAGCGGCTG - - CAGCGGCTG CAGCGGCTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr4:40434703_40434711delCAGCGGCTG uc003gvc.2 - 6 2209_2217 c.1499_1507delCAGCCGCTG c.(1498-1509)GCAGCCGCTGTC>GTC p.AAA500del RBM47_uc003gvd.2_In_Frame_Del_p.AAA431del|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_In_Frame_Del_p.AAA462del NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 500_502 Ala-rich. nucleus nucleotide binding|RNA binding breast(3) 3 GTGGGAATGACAgcggctgcggcggctgc 0.392 NA 28 71 --- --- --- --- NA NA NA NA NA ADAMTS2 9509 broad.mit.edu 37 5 178580494 178580494 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr5:178580494delC uc003mjw.2 - 9 1513 c.1513delG c.(1513-1515)GCGfs p.A505fs ADAMTS2_uc011dgm.1_Frame_Shift_Del_p.A505fs NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 505 Disintegrin. 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) ACACTCACCGCCGTGCACATC 0.687 NA 33 35 --- --- --- --- NA NA NA NA NA CDC5L 988 broad.mit.edu 37 6 44387252 44387252 + Frame_Shift_Del DEL T T - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:44387252delT uc003oxl.2 + 9 1418 c.1159delT c.(1159-1161)TTGfs p.L387fs NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 387 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TAATACCCCATTGCATGAGAG 0.443 NA 101 58 --- --- --- --- NA NA NA NA NA TAAR2 9287 broad.mit.edu 37 6 132939166 132939166 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:132939166delC uc003qdl.1 - 2 179 c.179delG c.(178-180)GGCfs p.G60fs TAAR2_uc010kfr.1_Frame_Shift_Del_p.G15fs NM_001033080 NP_001028252 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 isoform 1 60 Helical; Name=1; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) GGCAAGATTGCCAAATATTGT 0.423 NA 20 76 --- --- --- --- NA NA NA NA NA UTRN 7402 broad.mit.edu 37 6 144782414 144782414 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:144782414delC uc003qkt.2 + 21 2881 c.2789delC c.(2788-2790)GCCfs p.A930fs UTRN_uc010khq.1_Frame_Shift_Del_p.A930fs NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 930 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAAAATAAGGCCCAGGTGTCT 0.383 NA 64 139 --- --- --- --- NA NA NA NA NA GRM1 2911 broad.mit.edu 37 6 146755359 146755359 + Frame_Shift_Del DEL G G - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr6:146755359delG uc010khw.1 + 9 3482 c.3012delG c.(3010-3012)CTGfs p.L1004fs GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1004 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCTCTTCCTGGCCGAACCAG 0.677 NA 68 76 --- --- --- --- NA NA NA NA NA ELMO1 9844 broad.mit.edu 37 7 37283961 37283962 + Frame_Shift_Ins INS - - A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:37283961_37283962insA uc003tfk.1 - 7 755_756 c.448_449insT c.(448-450)TGCfs p.C150fs ELMO1_uc011kbc.1_Frame_Shift_Ins_p.C54fs|ELMO1_uc010kxg.1_Frame_Shift_Ins_p.C150fs NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 150 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 ATATTCTTACCAAGGCTTCATG 0.351 NA 26 110 --- --- --- --- NA NA NA NA NA CDK13 8621 broad.mit.edu 37 7 40039085 40039085 + Frame_Shift_Del DEL G G - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr7:40039085delG uc003thh.3 + 4 2450 c.2168delG c.(2167-2169)AGGfs p.R723fs CDK13_uc003thi.3_Frame_Shift_Del_p.R723fs|CDK13_uc011kbf.1_Frame_Shift_Del_p.R109fs NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 723 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 TACAAAGCCAGGGATAAAGAC 0.398 NA 35 91 --- --- --- --- NA NA NA NA NA KBTBD11 9920 broad.mit.edu 37 8 1949854 1949855 + Frame_Shift_Del DEL CG CG - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr8:1949854_1949855delCG uc003wpw.3 + 2 1462_1463 c.496_497delCG c.(496-498)CGCfs p.R166fs NM_014867 NP_055682 O94819 KBTBB_HUMAN kelch repeat and BTB (POZ) domain containing 11 166 BTB. pancreas(1) 1 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134) CGACTACTTCCGCGCGCGCGCG 0.767 NA 2 4 --- --- --- --- NA NA NA NA NA SLC24A2 25769 broad.mit.edu 37 9 19577004 19577005 + Frame_Shift_Ins INS - - T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:19577004_19577005insT uc003zoa.1 - 5 1207_1208 c.1145_1146insA c.(1144-1146)AAGfs p.K382fs SLC24A2_uc003zob.1_Frame_Shift_Ins_p.K365fs NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 382 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GAATTGAAGCCTTTTCTCTGAA 0.505 NA 18 80 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 9 90746725 90746725 + Frame_Shift_Del DEL C C - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:90746725delC uc011lti.1 - 4 1256 c.1227delG c.(1225-1227)GGGfs p.G409fs SubName: Full=cDNA FLJ59639; NA GTAAAGCCAACCCACCTTCTA 0.493 NA 84 77 --- --- --- --- NA NA NA NA NA BICD2 23299 broad.mit.edu 37 9 95477560 95477560 + Frame_Shift_Del DEL G G - TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125eda94-46ba-467b-93a5-909b1084136d ff44cf5d-e9bb-4f79-82b0-056824e2d6b5 g.chr9:95477560delG uc004aso.1 - 7 2501 c.2444delC c.(2443-2445)CCGfs p.P815fs BICD2_uc004asp.1_Frame_Shift_Del_p.P815fs NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 815 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 CTTGGTCTTCGGGGCGGCTTT 0.682 NA 25 16 --- --- --- --- NA NA NA NA NA