Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PLEKHN1 84069 broad.mit.edu 37 1 909268 909268 + Missense_Mutation SNP C C T rs140958781 byFrequency TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:909268C>T uc001ace.2 + 13 1681 c.1646C>T c.(1645-1647)TCG>TTG p.S549L PLEKHN1_uc001acd.2_Missense_Mutation_p.S497L|PLEKHN1_uc001acf.2_Missense_Mutation_p.S462L NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 549 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CCACTCCCCTCGGTGCCTGTG 0.697 NaN 0 0 0 0.104719 0 28 75 TP73 7161 broad.mit.edu 37 1 3644231 3644231 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:3644231C>T uc001akp.2 + 8 992 c.882C>T c.(880-882)ATC>ATT p.I294I TP73_uc001akq.2_Silent_p.I294I|TP73_uc010nzj.1_Silent_p.I245I|TP73_uc001akr.2_Silent_p.I245I|TP73_uc009vlk.1_Silent_p.I245I|TP73_uc001aks.2_Silent_p.I245I|TP73_uc010nzk.1_Silent_p.I223I|TP73_uc010nzl.1_5'UTR NM_005427 NP_005418 O15350 P73_HUMAN tumor protein p73 isoform a 294 DNA-binding (Potential). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity ovary(1)|lung(1) 2 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) AGGGCCGCATCTGCGCCTGTC 0.672 NaN 0 0 0 0.02938 0 7 14 TNFRSF8 943 broad.mit.edu 37 1 12202457 12202457 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:12202457G>C uc001atq.2 + 15 1879 c.1657G>C c.(1657-1659)GAG>CAG p.E553Q TNFRSF8_uc010obc.1_Missense_Mutation_p.E441Q|TNFRSF8_uc001atr.2_Missense_Mutation_p.E90Q|TNFRSF8_uc001ats.2_Missense_Mutation_p.E34Q NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 553 Cytoplasmic (Potential). cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GGAGGAGCTGGAGGCGGACCA 0.652 NaN 0 0 0 0.105934 0 13 31 SPEN 23013 broad.mit.edu 37 1 16199610 16199610 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:16199610G>A uc001axk.1 + 2 587 c.383G>A c.(382-384)CGT>CAT p.R128H SPEN_uc010obp.1_5'Flank NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 128 Arg-rich.|By similarity. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CGAGAAGGACGTTATGAGCGG 0.488 NaN 0 0 0 0.076483 0 19 38 C1orf201 90529 broad.mit.edu 37 1 24706145 24706145 + Missense_Mutation SNP T T A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:24706145T>A uc001bjc.2 - 5 595 c.460A>T c.(460-462)AAT>TAT p.N154Y C1orf201_uc001bja.2_Missense_Mutation_p.N107Y|C1orf201_uc001bjb.2_Missense_Mutation_p.N62Y|C1orf201_uc001bjd.2_Missense_Mutation_p.N154Y|C1orf201_uc001bje.1_Missense_Mutation_p.N107Y|C1orf201_uc001bjf.2_Missense_Mutation_p.N22Y Q5TH74 CA201_HUMAN RecName: Full=UPF0490 protein C1orf201; 154 ovary(1)|breast(1) 2 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145) GTTCTTACATTGTAATAGTTT 0.373 NaN 0 0 0 0.09319 0 11 53 ARID1A 8289 broad.mit.edu 37 1 27059204 27059204 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:27059204C>T uc001bmv.1 + 4 2214 c.1841C>T c.(1840-1842)TCA>TTA p.S614L ARID1A_uc001bmt.1_Missense_Mutation_p.S614L|ARID1A_uc001bmu.1_Missense_Mutation_p.S614L|ARID1A_uc001bmw.1_Missense_Mutation_p.S231L NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 614 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGGCATCCTCAGCCCCCTCA 0.478 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.062417 0 17 30 PUM1 9698 broad.mit.edu 37 1 31478699 31478699 + Splice_Site SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:31478699C>T uc001bsi.1 - 5 833 c.720_splice c.e5+1 p.F240_splice PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Splice_Site_p.F240_splice|PUM1_uc001bsj.1_Splice_Site_p.F240_splice|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Splice_Site_p.F276_splice|PUM1_uc010ogb.1_Intron NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) AGCCAACTTACAAATCCTCCT 0.398 NaN 0 0 0 0.09836 0 33 24 RNF220 55182 broad.mit.edu 37 1 44878109 44878109 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:44878109C>G uc001clv.1 + 2 700 c.340C>G c.(340-342)CAT>GAT p.H114D RNF220_uc001clw.1_Missense_Mutation_p.H114D NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 114 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TATGCTGAATCATAGTGGTGT 0.537 NaN 0 0 0 0.139131 0 108 78 STIL 6491 broad.mit.edu 37 1 47767334 47767334 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:47767334G>A uc001crc.1 - 5 507 c.352C>T c.(352-354)CTT>TTT p.L118F TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L118F|STIL_uc010omo.1_Missense_Mutation_p.L118F|STIL_uc001crd.1_Missense_Mutation_p.L118F|STIL_uc001cre.1_Missense_Mutation_p.L118F|STIL_uc001crg.1_Missense_Mutation_p.L118F NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 118 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TCCCCAGGAAGAGAAGCAGTA 0.388 NaN 0 0 0 0.11911 0 12 14 INADL 10207 broad.mit.edu 37 1 62330234 62330234 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:62330234C>G uc001dab.2 + 20 2878 c.2764C>G c.(2764-2766)CAA>GAA p.Q922E INADL_uc009waf.1_Missense_Mutation_p.Q922E|INADL_uc001daa.2_Missense_Mutation_p.Q922E|INADL_uc001dad.3_Missense_Mutation_p.Q619E|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 922 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 ATCCGAGTCTCAAGAGGCAAG 0.483 NaN 0 0 0 0.139131 0 58 54 MSH4 4438 broad.mit.edu 37 1 76280741 76280741 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:76280741C>A uc001dhd.1 + 5 776 c.735C>A c.(733-735)TTC>TTA p.F245L NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 245 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 GGAAATACTTCAATGAAACAA 0.323 NaN MMR 1 0 4.68919e-08 0.069234 4.82149e-08 8 34 ZZZ3 26009 broad.mit.edu 37 1 78031766 78031766 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:78031766C>G uc001dhq.2 - 14 3043 c.2567G>C c.(2566-2568)TGT>TCT p.C856S ZZZ3_uc001dhr.2_Missense_Mutation_p.C362S|ZZZ3_uc001dhp.2_Missense_Mutation_p.C855S NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 856 ZZ-type. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 AAACACTTACCAGTCTGAACA 0.393 NaN 0 0 0 0.184627 0 4 15 FUBP1 8880 broad.mit.edu 37 1 78428504 78428504 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:78428504G>A uc001dii.2 - 14 1384 c.1295C>T c.(1294-1296)ACT>ATT p.T432I FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.T453I NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 432 KH 4. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 CTGTTGTGGAGTGCCACGAAT 0.368 NaN 0 0 0 0.115264 0 3 30 IFI44L 10964 broad.mit.edu 37 1 79107468 79107468 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:79107468G>A uc010oro.1 + 9 1512 c.1333G>A c.(1333-1335)GAG>AAG p.E445K IFI44L_uc010orp.1_Missense_Mutation_p.E182K|IFI44L_uc010orq.1_Missense_Mutation_p.E182K NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 445 cytoplasm 0 AGGTGCAATTGAGAGAGCGTT 0.448 NaN 0 0 0 0.139131 0 44 121 GBP1 2633 broad.mit.edu 37 1 89522638 89522638 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:89522638C>G uc001dmx.2 - 7 1274 c.1054G>C c.(1054-1056)GAG>CAG p.E352Q NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 352 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TCCAGCAGCTCCTGGAGGGTT 0.517 NaN 0 0 0 0.069288 0 18 48 AMY2B 280 broad.mit.edu 37 1 104116527 104116527 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:104116527C>T uc001duq.2 + 6 1327 c.711C>T c.(709-711)TTC>TTT p.F237F AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.F237F|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 237 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GTAACTGGTTCCCTGCAGGAA 0.363 NaN 0 0 0 0.139131 0 32 35 NBPF16 728936 broad.mit.edu 37 1 148754879 148754879 + Missense_Mutation SNP A A T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:148754879A>T uc010pba.1 + 14 1726 c.1535A>T c.(1534-1536)CAG>CTG p.Q512L NBPF16_uc009wkt.1_Missense_Mutation_p.Q292L NM_001102663 NP_001096133 hypothetical protein LOC728936 0 all_hematologic(923;0.032) GAAGTCTTGCAGGACTCACTG 0.468 NaN 0 0 0 0.115264 0 3 47 SSR2 6746 broad.mit.edu 37 1 155989830 155989830 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:155989830C>T uc001fmx.2 - 2 209 c.129G>A c.(127-129)CAG>CAA p.Q43Q SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Silent_p.Q62Q|SSR2_uc010pgw.1_Silent_p.Q62Q NM_003145 NP_003136 P43308 SSRB_HUMAN signal sequence receptor, beta precursor 43 Lumenal (Potential). cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AGATGTTGTACTGCAAGGTCA 0.473 NaN 0 0 0 0.069234 0 8 65 KIRREL 55243 broad.mit.edu 37 1 158059548 158059548 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:158059548G>C uc001frn.3 + 10 1616 c.1212G>C c.(1210-1212)GTG>GTC p.V404V KIRREL_uc010pib.1_Silent_p.V304V|KIRREL_uc009wsq.2_Silent_p.V240V|KIRREL_uc001fro.3_Silent_p.V218V NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 404 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) AGTATGCTGTGAGGGGTGACG 0.602 NaN 0 0 0 0.139131 0 38 211 DDR2 4921 broad.mit.edu 37 1 162750019 162750019 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:162750019C>A uc001gcf.2 + 19 3016 c.2551C>A c.(2551-2553)CAA>AAA p.Q851K DDR2_uc001gcg.2_Missense_Mutation_p.Q851K|uc001gch.1_5'Flank NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 851 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) TCTGCTCCTTCAACAAGGCGA 0.527 NaN 1 0 2.68362e-12 0.09319 2.83031e-12 12 93 ADCY10 55811 broad.mit.edu 37 1 167792259 167792259 + Silent SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:167792259G>T uc001ger.2 - 29 4453 c.4155C>A c.(4153-4155)ATC>ATA p.I1385I ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Silent_p.I1293I|ADCY10_uc010plj.1_Silent_p.I1232I NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 1385 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 AATAAAGCAGGATGTCCAAGC 0.502 NaN 1 0 1.33834e-09 0.189662 1.38916e-09 16 39 GPR161 23432 broad.mit.edu 37 1 168066120 168066120 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:168066120G>C uc001gfc.2 - 5 1039 c.725C>G c.(724-726)TCC>TGC p.S242C GPR161_uc001gfb.2_Missense_Mutation_p.S110C|GPR161_uc010pll.1_Missense_Mutation_p.S152C|GPR161_uc010plm.1_Missense_Mutation_p.S128C|GPR161_uc009wvo.2_Missense_Mutation_p.S259C|GPR161_uc001gfd.2_Missense_Mutation_p.S242C|GPR161_uc010pln.1_Missense_Mutation_p.S262C|GPR161_uc001gfe.1_Missense_Mutation_p.S242C NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 242 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) GGAGGTGCTGGAGTTCTTCCT 0.602 NaN 0 0 0 0.139131 0 89 106 RFWD2 64326 broad.mit.edu 37 1 176050418 176050418 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:176050418T>C uc001gku.1 - 11 1403 c.1147A>G c.(1147-1149)AGT>GGT p.S383G RFWD2_uc001gkv.1_Missense_Mutation_p.S359G|RFWD2_uc001gkw.1_Missense_Mutation_p.S143G|RFWD2_uc009wwv.2_Missense_Mutation_p.S182G|RFWD2_uc001gkt.1_Missense_Mutation_p.S222G NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 383 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 GCAGTTCGACTGTCATCTATA 0.323 NaN 0 0 0 0.069234 0 9 24 KIAA1614 57710 broad.mit.edu 37 1 180904553 180904553 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:180904553G>A uc001gok.2 + 5 1575 c.1508G>A c.(1507-1509)CGG>CAG p.R503Q KIAA1614_uc001gol.1_Missense_Mutation_p.R124Q|KIAA1614_uc001gom.1_Intron NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 503 ovary(3)|skin(1) 4 GGGGCTCCCCGGCTCCGGGAC 0.741 NaN 0 0 0 0.021553 0 4 23 LAMC2 3918 broad.mit.edu 37 1 183208644 183208644 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:183208644G>C uc001gqa.2 + 20 3329 c.3015G>C c.(3013-3015)CAG>CAC p.Q1005H LAMC2_uc001gpz.3_Missense_Mutation_p.Q1005H|LAMC2_uc010poa.1_Missense_Mutation_p.Q705H NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 1005 Potential.|Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 CTGATGCACAGAGGGCAAAGA 0.537 NaN 0 0 0 0.183431 0 31 78 LAMC2 3918 broad.mit.edu 37 1 183209259 183209259 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:183209259G>C uc001gqa.2 + 21 3468 c.3154G>C c.(3154-3156)GAG>CAG p.E1052Q LAMC2_uc001gpz.3_Missense_Mutation_p.E1052Q|LAMC2_uc010poa.1_Missense_Mutation_p.E752Q NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 1052 Potential.|Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 TCTGAAGAGTGAGATGAGGGA 0.507 NaN 0 0 0 0.055883 0 19 74 FAM58B 339521 broad.mit.edu 37 1 200183191 200183191 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:200183191G>A uc009wzi.1 + 1 536 c.500G>A c.(499-501)CGG>CAG p.R167Q NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 167 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) AGCTGGCAGCGGACCCCCGTT 0.627 NaN 0 0 0 0.173368 0 23 59 NAV1 89796 broad.mit.edu 37 1 201749566 201749566 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:201749566C>A uc001gwu.2 + 4 1591 c.1244C>A c.(1243-1245)TCC>TAC p.S415Y NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Missense_Mutation_p.S24Y|NAV1_uc001gwx.2_Missense_Mutation_p.S24Y|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 415 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 GAAAGCAGCTCCATCAGTAGT 0.463 NaN 1 0 4.59853e-10 0.108266 4.78831e-10 25 72 NAV1 89796 broad.mit.edu 37 1 201749603 201749603 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:201749603C>G uc001gwu.2 + 4 1628 c.1281C>G c.(1279-1281)CTC>CTG p.L427L NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Silent_p.L36L|NAV1_uc001gwx.2_Silent_p.L36L|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 427 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CAGACAATCTCAGTTCAGAAG 0.488 NaN 0 0 0 0.092188 0 32 82 NAV1 89796 broad.mit.edu 37 1 201749677 201749677 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:201749677C>T uc001gwu.2 + 4 1702 c.1355C>T c.(1354-1356)TCA>TTA p.S452L NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Missense_Mutation_p.S61L|NAV1_uc001gwx.2_Missense_Mutation_p.S61L|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 452 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CGCAGGAACTCAACAATAGTG 0.498 NaN 0 0 0 0.144211 0 22 74 SLC30A1 7779 broad.mit.edu 37 1 211751465 211751465 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:211751465G>A uc001hio.1 - 1 635 c.490C>T c.(490-492)CGC>TGC p.R164C NM_021194 NP_067017 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), 164 Cytoplasmic (Potential). cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) CTCTTAACGCGAGGCCCCTTG 0.701 NaN 0 0 0 0.184627 0 4 16 KCNK2 3776 broad.mit.edu 37 1 215259881 215259881 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:215259881C>G uc001hkq.2 + 2 386 c.217C>G c.(217-219)CTG>GTG p.L73V KCNK2_uc001hko.2_Missense_Mutation_p.L69V|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.L58V NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 73 Helical; (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TGTCCTCTATCTGATCATCGG 0.483 NaN 0 0 0 0.189662 0 17 29 LBR 3930 broad.mit.edu 37 1 225598067 225598067 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:225598067C>T uc001hoy.2 - 10 1383 c.1240G>A c.(1240-1242)GCT>ACT p.A414T LBR_uc001hoz.2_Missense_Mutation_p.A414T|LBR_uc001hpa.1_Missense_Mutation_p.A414T NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 414 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) GATGGAACAGCGCGGTCCTGT 0.358 NaN 0 0 0 0.069288 0 16 69 LYST 1130 broad.mit.edu 37 1 235973651 235973651 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:235973651C>G uc001hxj.2 - 5 642 c.467G>C c.(466-468)AGA>ACA p.R156T LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R156T NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 156 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTTGCATCTCTTACAGAATA 0.418 NaN Chediak-Higashi_syndrome 0 0 0 0.193644 0 30 42 FMN2 56776 broad.mit.edu 37 1 240255687 240255687 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:240255687C>T uc010pyd.1 + 1 503 c.278C>T c.(277-279)TCC>TTC p.S93F FMN2_uc010pye.1_Missense_Mutation_p.S93F NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 93 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCCGGCGGCTCCCGCGAAGAT 0.617 NaN 0 0 0 0.069234 0 9 27 FMN2 56776 broad.mit.edu 37 1 240255999 240255999 + Nonsense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:240255999C>G uc010pyd.1 + 1 815 c.590C>G c.(589-591)TCA>TGA p.S197* FMN2_uc010pye.1_Nonsense_Mutation_p.S197* NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 197 Potential. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GATTTGCTTTCAGACATCCAG 0.413 NaN 0 0 0 0.038147 0 7 38 TUBB8 347688 broad.mit.edu 37 10 93872 93872 + Missense_Mutation SNP T T G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:93872T>G uc001ifi.2 - 4 460 c.460A>C c.(460-462)AAG>CAG p.K154Q TUBB8_uc009xhe.2_Missense_Mutation_p.K117Q|TUBB8_uc010pzs.1_Missense_Mutation_p.K82Q NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 154 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TCCCGGATCTTACTGAGCAGA 0.602 NaN 0 0 0 0.175082 0 15 250 PFKFB3 5209 broad.mit.edu 37 10 6261552 6261552 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:6261552G>A uc001ije.2 + 7 903 c.519G>A c.(517-519)CCG>CCA p.P173P PFKFB3_uc001ijd.2_Silent_p.P153P|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.P187P|PFKFB3_uc001ijf.2_Silent_p.P173P NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 173 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding p.P173P(1) ovary(2)|central_nervous_system(1) 3 TCTCCAGCCCGGATTACAAAG 0.507 NaN 0 0 0 0.184627 0 5 110 CUBN 8029 broad.mit.edu 37 10 17153011 17153011 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:17153011C>T uc001ioo.2 - 9 974 c.922G>A c.(922-924)GAA>AAA p.E308K NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 308 EGF-like 4; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATCTCACATTCATTGATATCT 0.413 NaN 0 0 0 0.146539 0 14 70 NSUN6 221078 broad.mit.edu 37 10 18905124 18905124 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:18905124G>A uc010qcp.1 - 4 828 c.410C>T c.(409-411)TCA>TTA p.S137L NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 137 PUA. methyltransferase activity|RNA binding ovary(2) 2 TTGTGATGCTGACACAATTCC 0.343 NaN 0 0 0 0.139131 0 39 10 NEBL 10529 broad.mit.edu 37 10 21102872 21102872 + Nonsense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:21102872G>C uc001iqi.2 - 23 2739 c.2342C>G c.(2341-2343)TCA>TGA p.S781* NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 781 Nebulin 22. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 CCCTACCATTGAAATATGATT 0.383 NaN 0 0 0 0.105934 0 9 29 RASGEF1A 221002 broad.mit.edu 37 10 43696157 43696157 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:43696157G>A uc001jap.1 - 5 720 c.639C>T c.(637-639)TGC>TGT p.C213C RASGEF1A_uc001jao.1_Silent_p.C221C NM_145313 NP_660356 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 213 cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 CCAGGGGGTCGCAGCACACGC 0.642 NaN 0 0 0 0.021553 0 5 54 ZNF32 7580 broad.mit.edu 37 10 44140096 44140096 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:44140096C>G uc001jbb.2 - 3 413 c.224G>C c.(223-225)AGG>ACG p.R75T uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.R75T NM_001005368 NP_001005368 P17041 ZNF32_HUMAN zinc finger protein 32 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) CTCATAGACCCTTTGTCTCAC 0.448 NaN 0 0 0 0.139131 0 37 23 PAPSS2 9060 broad.mit.edu 37 10 89504908 89504908 + Silent SNP C C T rs7918595 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:89504908C>T uc001kex.2 + 11 1889 c.1626C>T c.(1624-1626)CTC>CTT p.L542L PAPSS2_uc001kew.2_Silent_p.L547L NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 542 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CCCCTGGCCTCACCTCTGTGG 0.512 NaN 0 0 0 0.189662 0 16 4 ACTA2 59 broad.mit.edu 37 10 90695108 90695108 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:90695108C>T uc001kfp.2 - 9 1122 c.1006G>A c.(1006-1008)GAG>AAG p.E336K STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.E291K|ACTA2_uc001kfq.2_Missense_Mutation_p.E336K|uc001kfo.1_RNA NM_001613 NP_001604 P62736 ACTA_HUMAN alpha 2 actin 336 response to virus cytosol ATP binding 0 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) TATTTGCGCTCCGGAGGGGCA 0.507 NaN OREG0020356 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.139131 0 56 16 CUTC 51076 broad.mit.edu 37 10 101503808 101503808 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:101503808C>G uc001kqd.3 + 5 566 c.418C>G c.(418-420)CTG>GTG p.L140V CUTC_uc010qpk.1_Missense_Mutation_p.L140V|CUTC_uc001kqe.3_RNA NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN cutC copper transporter homolog 140 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(1) 1 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) TTGCCGCCCTCTGCCAGTCAC 0.348 NaN 0 0 0 0.214465 0 23 9 GFRA1 2674 broad.mit.edu 37 10 118030457 118030457 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:118030457C>G uc001lcj.2 - 3 909 c.211G>C c.(211-213)GAG>CAG p.E71Q GFRA1_uc001lci.2_Missense_Mutation_p.E71Q|GFRA1_uc009xyr.2_Missense_Mutation_p.E71Q NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 71 1. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) CTGCGGCACTCATCCTTGGCC 0.607 NaN 0 0 0 0.086207 0 33 49 ANO9 338440 broad.mit.edu 37 11 418436 418436 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:418436G>A uc001lpi.2 - 23 2369 c.2284C>T c.(2284-2286)CGG>TGG p.R762W SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.R455W|ANO9_uc010qvv.1_Missense_Mutation_p.R618W NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 762 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 ATTGGGGGCCGAGAGCCTGCC 0.627 NaN 0 0 0 0.132662 0 14 28 TSPAN4 7106 broad.mit.edu 37 11 862710 862710 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:862710C>T uc001lsd.1 + 4 433 c.224C>T c.(223-225)GCC>GTC p.A75V TSPAN4_uc001lse.1_Missense_Mutation_p.A11V|TSPAN4_uc001lsf.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsg.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsh.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsi.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsj.1_Missense_Mutation_p.A75V NM_003271 NP_003262 O14817 TSN4_HUMAN tetraspanin 4 isoform a 75 Helical; (Potential). protein complex assembly integral to plasma membrane breast(1) 1 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCCTGGGTGCCATCAAGGAG 0.667 NaN 0 0 0 0.080935 0 8 22 OR52W1 120787 broad.mit.edu 37 11 6220474 6220474 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:6220474C>G uc010qzz.1 + 1 21 c.21C>G c.(19-21)CTC>CTG p.L7L NM_001005178 NP_001005178 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTACAACTCAATTCCACCT 0.517 NaN 0 0 0 0.214465 0 34 43 TSG101 7251 broad.mit.edu 37 11 18503374 18503374 + Nonsense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:18503374C>A uc001mor.2 - 9 1012 c.886G>T c.(886-888)GAA>TAA p.E296* NM_006292 NP_006283 Q99816 TS101_HUMAN tumor susceptibility gene 101 296 Potential. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding 0 CTGAGTTCTTCATCCTTCTTT 0.358 NaN 1 0 2.17888e-05 0.058154 2.21948e-05 10 13 API5 8539 broad.mit.edu 37 11 43333683 43333683 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:43333683G>A uc010rfh.1 + 1 179 c.6G>A c.(4-6)CCG>CCA p.P2P API5_uc010rfg.1_5'UTR|API5_uc001mxf.2_Silent_p.P2P|API5_uc010rfi.1_Silent_p.P2P NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 2 Not acetylated. anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TCACCATGCCGACAGTAGAGG 0.647 NaN OREG0020900 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.139131 0 42 35 TCN1 6947 broad.mit.edu 37 11 59630175 59630175 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:59630175C>G uc001noj.2 - 3 378 c.280G>C c.(280-282)GAG>CAG p.E94Q NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 94 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGGCAAGCTCTCCCGAGCTT 0.383 NaN 0 0 0 0.055883 0 15 26 KRTAP5-11 440051 broad.mit.edu 37 11 71293573 71293573 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:71293573G>C uc001oqu.2 - 1 349 c.311C>G c.(310-312)TCC>TGC p.S104C NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 104 6 X 4 AA repeats of C-C-X-P. keratin filament 0 ggagcagctggactggcagca 0.179 NaN 0 0 0 0.139131 0 65 149 NAALAD2 10003 broad.mit.edu 37 11 89914805 89914805 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:89914805G>A uc001pdf.3 + 17 1985 c.1876G>A c.(1876-1878)GTG>ATG p.V626M NAALAD2_uc009yvx.2_Missense_Mutation_p.V593M|NAALAD2_uc009yvy.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 626 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ATTTTCTGCTGTGAAAAACTT 0.318 NaN 0 0 0 0.184627 0 3 10 NAALAD2 10003 broad.mit.edu 37 11 89924900 89924900 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:89924900G>A uc001pdf.3 + 19 2317 c.2208G>A c.(2206-2208)CTG>CTA p.L736L NAALAD2_uc009yvx.2_Silent_p.L703L|NAALAD2_uc009yvy.2_3'UTR NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 736 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CAGGAACTCTGAAAGAAGTAT 0.368 NaN 0 0 0 0.038147 0 6 17 IL10RA 3587 broad.mit.edu 37 11 117869673 117869673 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:117869673G>A uc001prv.2 + 7 1131 c.1054G>A c.(1054-1056)GAG>AAG p.E352K IL10RA_uc010rxl.1_Missense_Mutation_p.E332K|IL10RA_uc010rxm.1_Missense_Mutation_p.E332K|IL10RA_uc010rxn.1_Missense_Mutation_p.E203K|IL10RA_uc001prw.2_Missense_Mutation_p.E203K NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 352 Cytoplasmic (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GGGAAACAGGGAGCCCCCTGT 0.647 NaN 0 0 0 0.108266 0 19 29 GNB3 2784 broad.mit.edu 37 12 6954874 6954874 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:6954874C>G uc001qrd.2 + 10 1229 c.824C>G c.(823-825)TCC>TGC p.S275C GNB3_uc001qrc.2_Missense_Mutation_p.S231C|GNB3_uc009zfe.2_Missense_Mutation_p.S274C|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA NM_002075 NP_002066 P16520 GBB3_HUMAN guanine nucleotide-binding protein, beta-3 275 WD 6. cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity 0 GGCATCACGTCCGTGGCCTTC 0.597 NaN 0 0 0 0.139131 0 149 237 CDCA3 83461 broad.mit.edu 37 12 6959647 6959647 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:6959647C>T uc001qrg.2 - 3 362 c.234G>A c.(232-234)ATG>ATA p.M78I CDCA3_uc001qre.2_Missense_Mutation_p.M78I|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank NM_031299 NP_112589 Q99618 CDCA3_HUMAN cell division cycle associated 3 78 cell division|mitosis cytosol 0 TGCTGGTCTTCATAGGTGTCC 0.542 NaN 0 0 0 0.139131 0 96 117 ATF7IP 55729 broad.mit.edu 37 12 14633975 14633975 + Nonsense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:14633975C>T uc001rbw.2 + 13 3294 c.3136C>T c.(3136-3138)CAG>TAG p.Q1046* ATF7IP_uc001rbv.1_Nonsense_Mutation_p.Q1045*|ATF7IP_uc001rbx.2_Nonsense_Mutation_p.Q1045*|ATF7IP_uc001rby.3_Nonsense_Mutation_p.Q1046*|ATF7IP_uc001rca.2_Nonsense_Mutation_p.Q1046* NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1046 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 TCCAGTAACTCAGGTGACCAC 0.453 NaN 0 0 0 0.139131 0 37 40 YAF2 10138 broad.mit.edu 37 12 42554413 42554413 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:42554413G>A uc001rmv.2 - 4 589 c.521C>T c.(520-522)TCA>TTA p.S174L YAF2_uc001rmw.2_Missense_Mutation_p.S198L|YAF2_uc010sko.1_Missense_Mutation_p.S165L|YAF2_uc010skp.1_Missense_Mutation_p.S132L NM_005748 NP_005739 Q8IY57 YAF2_HUMAN YY1 associated factor 2 174 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding 0 all_cancers(12;0.000425) Lung NSC(34;0.0402)|all_lung(34;0.057) GBM - Glioblastoma multiforme(48;0.0514) TCCATTCAATGATGAGGCTTC 0.423 NaN 0 0 0 0.058154 0 8 6 KRT6C 286887 broad.mit.edu 37 12 52865005 52865006 + Missense_Mutation DNP GG GG TT TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:52865005_52865006GG>TT uc001sal.3 - 5 1035_1036 c.987_988CC>AA c.(985-990)GACCTG>GAAATG p.329_330DL>EM NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C 329_330 Rod.|Linker 12. cytoskeleton organization keratin filament structural molecule activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) ATGCTGTCCAGGTCCAGGTTGC 0.559 NaN 0 0 0 0.115264 0 75 107 PAN2 9924 broad.mit.edu 37 12 56718262 56718262 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:56718262G>A uc001skx.2 - 12 2117 c.1744C>T c.(1744-1746)CGG>TGG p.R582W PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.R582W|PAN2_uc001sky.2_Missense_Mutation_p.R582W NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 582 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 CGGAATGCCCGAAGAAAATTA 0.498 NaN 0 0 0 0.058154 0 10 5 HAL 3034 broad.mit.edu 37 12 96368046 96368046 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:96368046C>T uc001tem.1 - 21 2235 c.1938G>A c.(1936-1938)AAG>AAA p.K646K HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.K438K|HAL_uc010sux.1_3'UTR NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 646 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) TGGTGGATTTCTTGTGCAGAA 0.438 NaN 0 0 0 0.069288 0 20 61 ASCL1 429 broad.mit.edu 37 12 103352354 103352354 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:103352354G>T uc001tjr.3 + 1 903 c.332G>T c.(331-333)AGC>ATC p.S111I NM_004316 NP_004307 P50553 ASCL1_HUMAN achaete-scute complex homolog 1 111 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity 0 TTTGGCTACAGCCTGCCGCAG 0.662 NaN 1 0 7.07596e-05 0.175082 7.16332e-05 15 9 HSP90B1 7184 broad.mit.edu 37 12 104341191 104341191 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:104341191G>A uc001tkb.1 + 17 2470 c.2365G>A c.(2365-2367)GAA>AAA p.E789K HSP90B1_uc010swg.1_Missense_Mutation_p.E454K|HSP90B1_uc009zui.1_Silent_p.K325K NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 789 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) aacagatgaagaagaagaaAC 0.184 NaN 0 0 0 0.105934 0 14 9 ZNF10 7556 broad.mit.edu 37 12 133732691 133732691 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:133732691C>T uc009zzb.2 + 5 1306 c.859C>T c.(859-861)CAT>TAT p.H287Y ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.H287Y NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 287 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TCAGCTTATTCATACTGGAGA 0.418 NaN 0 0 0 0.09319 0 9 55 FREM2 341640 broad.mit.edu 37 13 39438670 39438670 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:39438670G>A uc001uwv.2 + 16 8219 c.7910G>A c.(7909-7911)TGG>TAG p.W2637* FREM2_uc001uww.2_Nonsense_Mutation_p.W723* NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2637 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCCTGTTTATGGGAGTTCGTT 0.458 NaN 0 0 0 0.062417 0 20 27 KBTBD6 89890 broad.mit.edu 37 13 41705613 41705613 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:41705613C>A uc001uxu.1 - 1 1324 c.1035G>T c.(1033-1035)ATG>ATT p.M345I KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.M279I|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 345 protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) AGAAGATCACCATCTCCTTGG 0.448 NaN 1 0 0.000673444 0.069234 0.000677576 5 63 KBTBD7 84078 broad.mit.edu 37 13 41767359 41767359 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:41767359C>A uc001uxw.1 - 1 1344 c.1035G>T c.(1033-1035)ATG>ATT p.M345I uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 345 protein binding ovary(1) 1 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) AGAAGATCACCATCTCCTTGG 0.428 NaN 1 0 5.03518e-11 0.189662 5.27649e-11 11 13 SLC25A30 253512 broad.mit.edu 37 13 45973211 45973211 + Nonsense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:45973211G>C uc001vag.2 - 8 754 c.617C>G c.(616-618)TCA>TGA p.S206* SLC25A30_uc010tfs.1_Nonsense_Mutation_p.S131*|SLC25A30_uc001vah.2_Nonsense_Mutation_p.S131*|SLC25A30_uc010tft.1_Nonsense_Mutation_p.S155*|SLC25A30_uc001vaf.2_Nonsense_Mutation_p.S62* NM_001010875 NP_001010875 Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 206 Helical; Name=5; (Potential).|Solcar 3. mitochondrial transport integral to membrane|mitochondrial inner membrane binding breast(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) GGTGAAGCTTGAGCTATAAAG 0.463 NaN 0 0 0 0.047766 0 7 34 ESD 2098 broad.mit.edu 37 13 47365491 47365491 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:47365491C>T uc001vbn.2 - 3 241 c.58G>A c.(58-60)GAA>AAA p.E20K ESD_uc001vbo.2_Missense_Mutation_p.E20K NM_001984 NP_001975 P10768 ESTD_HUMAN esterase D/formylglutathione hydrolase 20 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity ovary(1) 1 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) CTGTCATGTTCAAAAACTTTC 0.303 NaN 0 0 0 0.189662 0 13 12 FNDC3A 22862 broad.mit.edu 37 13 49762735 49762735 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:49762735G>A uc001vcm.2 + 17 2215 c.1910G>A c.(1909-1911)CGA>CAA p.R637Q FNDC3A_uc001vcn.2_Missense_Mutation_p.R637Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.R563Q|FNDC3A_uc001vcq.2_Missense_Mutation_p.R581Q NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 637 Fibronectin type-III 4. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TATCGTTTACGAGTTTACTGC 0.413 NaN 0 0 0 0.134883 0 24 157 EDNRB 1910 broad.mit.edu 37 13 78477333 78477333 + Silent SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:78477333T>C uc001vko.2 - 3 1017 c.759A>G c.(757-759)CGA>CGG p.R253R EDNRB_uc001vkq.1_Silent_p.R253R|uc001vkn.1_Intron|EDNRB_uc010aez.1_Silent_p.R253R|EDNRB_uc001vkp.1_Silent_p.R336R NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 253 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GCAAGCAGATTCGCAGATAAC 0.373 NaN 0 0 0 0.163468 0 23 34 OR4E2 26686 broad.mit.edu 37 14 22134223 22134223 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:22134223G>A uc010tmd.1 + 1 927 c.927G>A c.(925-927)ACG>ACA p.T309T NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TTTTTTTCACGAAATCATATA 0.393 NaN 0 0 0 0.150653 0 4 11 SCFD1 23256 broad.mit.edu 37 14 31169416 31169416 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:31169416G>C uc001wqm.1 + 16 1386 c.1362G>C c.(1360-1362)ATG>ATC p.M454I SCFD1_uc001wqn.1_Missense_Mutation_p.M387I|SCFD1_uc010tpg.1_Missense_Mutation_p.M395I|SCFD1_uc010tph.1_Missense_Mutation_p.M269I|SCFD1_uc010amf.1_Missense_Mutation_p.M269I|SCFD1_uc010tpi.1_Missense_Mutation_p.M362I|SCFD1_uc010amd.1_Missense_Mutation_p.M286I|SCFD1_uc010ame.1_Missense_Mutation_p.M387I NM_016106 NP_057190 Q8WVM8 SCFD1_HUMAN vesicle transport-related protein isoform a 454 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding 0 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) AAGATAAAATGAGGTTGTTTC 0.348 NaN 0 0 0 0.099896 0 20 37 PTGER2 5732 broad.mit.edu 37 14 52781491 52781491 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:52781491G>A uc001wzr.2 + 1 476 c.225G>A c.(223-225)GTG>GTA p.V75V NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 75 Helical; Name=2; (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CCGAGCTGGTGTTCACCGACC 0.711 NaN 0 0 0 0.062417 0 18 60 SPTB 6710 broad.mit.edu 37 14 65260362 65260362 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:65260362G>C uc001xht.2 - 13 2073 c.2019C>G c.(2017-2019)CTC>CTG p.L673L SPTB_uc001xhr.2_Silent_p.L673L|SPTB_uc001xhs.2_Silent_p.L673L|SPTB_uc001xhu.2_Silent_p.L673L NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 673 Spectrin 4. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCTGTAAGATGAGCACACTGG 0.547 NaN 0 0 0 0.080935 0 11 22 C14orf174 161394 broad.mit.edu 37 14 77843846 77843846 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:77843846C>T uc001xtq.1 + 1 85 c.85C>T c.(85-87)CAT>TAT p.H29Y TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 29 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) GCCTGGACTTCATAAATTGTA 0.517 NaN 0 0 0 0.146539 0 15 21 FLRT2 23768 broad.mit.edu 37 14 86087957 86087957 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:86087957C>G uc001xvr.2 + 2 866 c.99C>G c.(97-99)CTC>CTG p.L33L FLRT2_uc010atd.2_Silent_p.L33L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 33 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) TGTCCAAACTCCTGGCCTGCC 0.547 NaN 0 0 0 0.139131 0 53 50 FLRT2 23768 broad.mit.edu 37 14 86088062 86088062 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:86088062C>G uc001xvr.2 + 2 971 c.204C>G c.(202-204)CTC>CTG p.L68L FLRT2_uc010atd.2_Silent_p.L68L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 68 Extracellular (Potential).|LRR 1. 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) TAACTGTACTCTACCTCCACA 0.517 NaN 0 0 0 0.139131 0 66 49 FLRT2 23768 broad.mit.edu 37 14 86088862 86088862 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:86088862G>T uc001xvr.2 + 2 1771 c.1004G>T c.(1003-1005)CGG>CTG p.R335L FLRT2_uc010atd.2_Missense_Mutation_p.R335L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 335 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) CTCAACGTGCGGGGTTTCATG 0.507 NaN 1 0 4.44732e-65 0.139131 4.78269e-65 87 93 KCNK13 56659 broad.mit.edu 37 14 90650720 90650720 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:90650720C>G uc001xye.1 + 2 1042 c.600C>G c.(598-600)ATC>ATG p.I200M NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 200 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) TCATGCTGATCCTATGCACAG 0.592 NaN 0 0 0 0.09836 0 32 162 KCNK13 56659 broad.mit.edu 37 14 90650738 90650738 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:90650738C>T uc001xye.1 + 2 1060 c.618C>T c.(616-618)ATC>ATT p.I206I NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 206 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) CAGCCTCCATCCTCATCTCTT 0.562 NaN 0 0 0 0.124865 0 34 162 KCNK13 56659 broad.mit.edu 37 14 90650948 90650948 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:90650948C>G uc001xye.1 + 2 1270 c.828C>G c.(826-828)TTC>TTG p.F276L NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 276 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) ACTCCTTGTTCAATGTCATCT 0.522 NaN 0 0 0 0.153744 0 23 78 KCNK13 56659 broad.mit.edu 37 14 90650969 90650969 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:90650969C>G uc001xye.1 + 2 1291 c.849C>G c.(847-849)ATC>ATG p.I283M NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 283 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) CTATCCTCATCAAACAGTCCT 0.517 NaN 0 0 0 0.173368 0 26 94 GOLGA5 9950 broad.mit.edu 37 14 93299516 93299516 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:93299516G>A uc001yaz.1 + 10 1951 c.1769G>A c.(1768-1770)CGA>CAA p.R590Q GOLGA5_uc001yba.1_5'UTR NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 590 Cytoplasmic (Potential).|Potential. Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) TTAGAAAATCGACTCCATCAG 0.403 NaN T RET papillary thyroid 0 0 0 0.146539 0 12 38 SLC25A29 123096 broad.mit.edu 37 14 100758860 100758860 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:100758860G>A uc001yha.2 - 4 963 c.672C>T c.(670-672)GGC>GGT p.G224G SLC25A29_uc010avv.2_Silent_p.G158G|SLC25A29_uc010twx.1_Missense_Mutation_p.A202V NM_001039355 NP_001034444 Q8N8R3 MCATL_HUMAN solute carrier family 25, member 29 224 Solcar 3. integral to membrane|mitochondrial inner membrane binding ovary(1) 1 Melanoma(154;0.152) L-Carnitine(DB00583) AGCGCGGGGCGCCCCGCAGTC 0.706 NaN 0 0 0 0.047766 0 7 19 CYFIP1 23191 broad.mit.edu 37 15 22955190 22955190 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:22955190C>A uc001yus.2 + 15 1688 c.1584C>A c.(1582-1584)TTC>TTA p.F528L CYFIP1_uc001yut.2_Missense_Mutation_p.F528L|CYFIP1_uc010aya.1_Missense_Mutation_p.F556L|CYFIP1_uc001yuu.2_5'Flank NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 528 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) ATGAGCCCTTCAATGACCCAG 0.622 NaN 1 0 4.44401e-20 0.117977 4.748e-20 33 49 RYR3 6263 broad.mit.edu 37 15 33928729 33928729 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:33928729C>T uc001zhi.2 + 27 3604 c.3534C>T c.(3532-3534)TTC>TTT p.F1178F RYR3_uc010bar.2_Silent_p.F1178F NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1178 B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AACTTGCCTTCGCTGACTACG 0.493 NaN 0 0 0 0.09319 0 11 54 RYR3 6263 broad.mit.edu 37 15 33936718 33936718 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:33936718G>C uc001zhi.2 + 28 3833 c.3763G>C c.(3763-3765)GAG>CAG p.E1255Q RYR3_uc010bar.2_Missense_Mutation_p.E1255Q NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1255 4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCACACATAGAGGTAATGTT 0.512 NaN 0 0 0 0.02938 0 6 13 RYR3 6263 broad.mit.edu 37 15 34151822 34151822 + Missense_Mutation SNP T T G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:34151822T>G uc001zhi.2 + 100 14259 c.14189T>G c.(14188-14190)ATT>AGT p.I4730S RYR3_uc010bar.2_Missense_Mutation_p.I4725S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4730 Helical; Name=M9; (Potential). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAGGTGGCATTGGTGATGAA 0.423 NaN 0 0 0 0.069234 0 9 29 CASC5 57082 broad.mit.edu 37 15 40913375 40913375 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:40913375G>A uc010bbs.1 + 11 1152 c.991G>A c.(991-993)GAA>AAA p.E331K CASC5_uc010ucq.1_Missense_Mutation_p.E155K|CASC5_uc001zme.2_Missense_Mutation_p.E305K|CASC5_uc010bbt.1_Missense_Mutation_p.E305K NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 331 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CAACTCACGGGAATCTAAAGG 0.378 NaN 0 0 0 0.069234 0 10 26 INO80 54617 broad.mit.edu 37 15 41365655 41365655 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:41365655C>T uc001zni.2 - 11 1579 c.1366G>A c.(1366-1368)GAA>AAA p.E456K INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 456 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TAAGCATTTTCAGCATTCTTC 0.378 NaN 0 0 0 0.069234 0 6 49 WDR76 79968 broad.mit.edu 37 15 44149340 44149340 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:44149340A>G uc001zti.1 + 10 1411 c.1388A>G c.(1387-1389)TAT>TGT p.Y463C NM_024908 NP_079184 Q9H967 WDR76_HUMAN WD repeat domain 76 463 WD 4. 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) CATAGACAGTATTTTATCACT 0.373 NaN 0 0 0 0.175082 0 12 16 DUOX2 50506 broad.mit.edu 37 15 45389939 45389939 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:45389939C>T uc010bea.2 - 28 3769 c.3566G>A c.(3565-3567)GGT>GAT p.G1189D DUOX2_uc001zun.2_Missense_Mutation_p.G1189D NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1189 Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) ACCTGTCATACCTGGGGGCAG 0.587 NaN 0 0 0 0.204396 0 16 55 PLEKHO2 80301 broad.mit.edu 37 15 65157389 65157389 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:65157389G>C uc002anv.2 + 6 909 c.775G>C c.(775-777)GAG>CAG p.E259Q PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.E209Q NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 259 Pro-rich. ovary(1)|lung(1) 2 CAGTGGCTCTGAGCAGCCTCC 0.632 NaN 0 0 0 0.144211 0 25 32 PLEKHO2 80301 broad.mit.edu 37 15 65157595 65157595 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:65157595G>C uc002anv.2 + 6 1115 c.981G>C c.(979-981)GAG>GAC p.E327D PLEKHO2_uc010bgz.2_Missense_Mutation_p.E3D|PLEKHO2_uc002anw.2_Missense_Mutation_p.E277D NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 327 Pro-rich. ovary(1)|lung(1) 2 CCATGGGTGAGATGCAGGCTT 0.597 NaN 0 0 0 0.09319 0 8 21 PLEKHO2 80301 broad.mit.edu 37 15 65157914 65157914 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:65157914G>A uc002anv.2 + 6 1434 c.1300G>A c.(1300-1302)GAG>AAG p.E434K PLEKHO2_uc010bgz.2_Missense_Mutation_p.E110K|PLEKHO2_uc002anw.2_Missense_Mutation_p.E384K NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 434 ovary(1)|lung(1) 2 GCTGGGCAGTGAGCCGGCCCC 0.602 NaN 0 0 0 0.144211 0 28 21 RASL12 51285 broad.mit.edu 37 15 65360144 65360144 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:65360144C>G uc002aoi.1 - 1 245 c.30G>C c.(28-30)GCG>GCC p.A10A RASL12_uc002aoj.1_Silent_p.A10A|RASL12_uc010uir.1_Intron NM_016563 NP_057647 Q9NYN1 RASLC_HUMAN RAS-like, family 12 protein 10 small GTPase mediated signal transduction membrane GTP binding|GTPase activity skin(1) 1 GCCCGCTGCCCGCGCGGGGTT 0.766 NaN 0 0 0 0.058154 0 8 11 BBS4 585 broad.mit.edu 37 15 73007669 73007669 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:73007669C>G uc002avb.2 + 5 301 c.258C>G c.(256-258)TCC>TCG p.S86S BBS4_uc010ukv.1_Silent_p.S74S|BBS4_uc002avc.2_5'UTR|BBS4_uc002avd.2_Silent_p.S94S NM_033028 NP_149017 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 86 TPR 1. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity 0 TCCAAGAATCCCTAGAACTCT 0.443 NaN Bardet-Biedl_syndrome 0 0 0 0.132662 0 13 26 RASGRF1 5923 broad.mit.edu 37 15 79284125 79284125 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:79284125C>T uc002beq.2 - 22 3462 c.3087G>A c.(3085-3087)GTG>GTA p.V1029V RASGRF1_uc002bep.2_Silent_p.V1013V|RASGRF1_uc010blm.1_Silent_p.V938V|RASGRF1_uc002ber.3_Silent_p.V1013V|RASGRF1_uc010unh.1_Silent_p.V424V|RASGRF1_uc002beo.2_Silent_p.V245V NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 1031 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GCTCAGCCTTCACGCCTTCAG 0.542 NaN 0 0 0 0.047766 0 8 29 RASGRF1 5923 broad.mit.edu 37 15 79284133 79284133 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:79284133C>T uc002beq.2 - 22 3454 c.3079G>A c.(3079-3081)GAA>AAA p.E1027K RASGRF1_uc002bep.2_Missense_Mutation_p.E1011K|RASGRF1_uc010blm.1_Missense_Mutation_p.E936K|RASGRF1_uc002ber.3_Missense_Mutation_p.E1011K|RASGRF1_uc010unh.1_Missense_Mutation_p.E422K|RASGRF1_uc002beo.2_Missense_Mutation_p.E243K NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 1029 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TTCACGCCTTCAGCCTGGTTT 0.547 NaN 0 0 0 0.02938 0 6 27 CPEB1 64506 broad.mit.edu 37 15 83218237 83218237 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:83218237C>G uc002bit.2 - 9 1704 c.1567G>C c.(1567-1569)GAC>CAC p.D523H CPEB1_uc002biq.2_Missense_Mutation_p.D383H|CPEB1_uc002bir.2_Missense_Mutation_p.D388H|CPEB1_uc002bis.2_Missense_Mutation_p.D383H|CPEB1_uc010uod.1_Missense_Mutation_p.D232H|CPEB1_uc010uoe.1_Missense_Mutation_p.D461H|CPEB1_uc002biu.2_Missense_Mutation_p.D485H|CPEB1_uc010uof.1_Missense_Mutation_p.D383H|CPEB1_uc002biv.2_Missense_Mutation_p.D458H|CPEB1_uc002bip.2_Missense_Mutation_p.D232H NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 463 RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies. 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) TTATCTGTGTCAATCCCGGCA 0.517 NaN 0 0 0 0.062417 0 16 41 GNPTG 84572 broad.mit.edu 37 16 1413046 1413046 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:1413046C>T uc002clm.2 + 11 907 c.872C>T c.(871-873)TCT>TTT p.S291F NM_032520 NP_115909 Q9UJJ9 GNPTG_HUMAN N-acetylglucosamine-1-phosphotransferase, gamma 291 extracellular region|Golgi apparatus protein binding central_nervous_system(1) 1 Hepatocellular(780;0.0893) AGAGCCAAGTCTCCAGAGCAG 0.622 NaN 0 0 0 0.09319 0 11 19 TBL3 10607 broad.mit.edu 37 16 2024268 2024268 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:2024268G>A uc002cnu.1 + 3 266 c.164G>A c.(163-165)GGG>GAG p.G55E TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsb.1_5'Flank|TBL3_uc010bsc.1_5'Flank|TBL3_uc010uvt.1_5'Flank NM_006453 NP_006444 Q12788 TBL3_HUMAN transducin beta-like 3 55 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity 0 GTGGCCTCGGGGGCCGTGCTG 0.647 NaN 0 0 0 0.11126 0 38 83 DNAH3 55567 broad.mit.edu 37 16 20999096 20999096 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:20999096C>T uc010vbe.1 - 46 6801 c.6801G>A c.(6799-6801)TCG>TCA p.S2267S DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2267 AAA 3 (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) AATGTGACTTCGAGGGAGTTG 0.493 NaN 0 0 0 0.193644 0 29 12 EEF2K 29904 broad.mit.edu 37 16 22291646 22291646 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:22291646G>A uc002dki.2 + 17 2502 c.2017G>A c.(2017-2019)GAG>AAG p.E673K EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 673 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) CAGGGAGGCCGAGATGCTGTT 0.637 NaN 0 0 0 0.163468 0 28 18 PRRT2 112476 broad.mit.edu 37 16 29824403 29824403 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:29824403G>C uc002due.3 + 2 329 c.28G>C c.(28-30)GAG>CAG p.E10Q uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.E10Q|PRRT2_uc002duf.1_Missense_Mutation_p.E10Q NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 10 Extracellular (Potential). response to biotic stimulus integral to membrane 0 TGAGATCTCTGAGATGAAGGG 0.587 NaN 0 0 0 0.108266 0 24 78 FTO 79068 broad.mit.edu 37 16 53967927 53967927 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:53967927G>C uc002ehr.2 + 8 1492 c.1270G>C c.(1270-1272)GAG>CAG p.E424Q FTO_uc010vha.1_Missense_Mutation_p.E128Q|FTO_uc010cbz.2_Missense_Mutation_p.E25Q|FTO_uc002ehs.2_RNA NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 424 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGTTAAAAGAGAGGGGCTCCC 0.418 NaN 0 0 0 0.146539 0 12 25 GPR97 222487 broad.mit.edu 37 16 57714456 57714456 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:57714456C>A uc002emh.2 + 8 911 c.808C>A c.(808-810)CGC>AGC p.R270S GPR97_uc010vhv.1_Missense_Mutation_p.R150S|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'UTR NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 270 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 TATCCTCACACGCATCTCCCA 0.577 NaN 1 0 1.96642e-18 0.092188 2.09411e-18 31 86 KCTD19 146212 broad.mit.edu 37 16 67331452 67331452 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:67331452C>T uc002esu.2 - 7 1152 c.1101G>A c.(1099-1101)TTG>TTA p.L367L KCTD19_uc002est.2_Silent_p.L139L|KCTD19_uc010vjj.1_Silent_p.L110L NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 367 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GATGAGTCTTCAAAGCAACTT 0.493 NaN 0 0 0 0.146539 0 17 30 RLTPR 146206 broad.mit.edu 37 16 67685194 67685194 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:67685194C>T uc002etn.2 + 23 2409 c.2289C>T c.(2287-2289)ATC>ATT p.I763I RLTPR_uc010cel.1_Silent_p.I756I|RLTPR_uc010vjr.1_Silent_p.I727I|RLTPR_uc010vjs.1_5'Flank NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 763 breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) AGGATGCCATCCAAAATGCCA 0.587 NaN 0 0 0 0.139131 0 42 86 ZNF594 84622 broad.mit.edu 37 17 5086617 5086617 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:5086617T>C uc010cla.1 - 2 1091 c.935A>G c.(934-936)GAA>GGA p.E312G NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 312 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TCTCTGGTGTTCAGTAAGGTG 0.453 NaN 0 0 0 0.069288 0 21 25 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:7578454G>A uc002gim.2 - 5 670 c.476C>T c.(475-477)GCC>GTC p.A159V TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 159 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(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) GATGGCCATGGCGCGGACGCG 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.139131 0 63 19 ODF4 146852 broad.mit.edu 37 17 8248778 8248778 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:8248778T>C uc002gle.1 + 2 754 c.572T>C c.(571-573)ATC>ACC p.I191T NM_153007 NP_694552 Q2M2E3 ODFP4_HUMAN outer dense fiber of sperm tails 4 191 Helical; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1) 1 CTGGTGCTTATCCTATACTTC 0.532 NaN 0 0 0 0.139131 0 75 30 MAP2K3 5606 broad.mit.edu 37 17 21207742 21207742 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:21207742G>A uc002gys.2 + 8 838 c.573G>A c.(571-573)GTG>GTA p.V191V MAP2K3_uc002gyt.2_Silent_p.V162V|MAP2K3_uc002gyu.2_Silent_p.V162V NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 191 Protein kinase. 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) TGGCAGATGTGAAGCCCTCCA 0.577 NaN 0 0 0 0.117977 0 36 95 KSR1 8844 broad.mit.edu 37 17 25932610 25932610 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:25932610G>C uc010crg.2 + 15 1865 c.1420G>C c.(1420-1422)GAG>CAG p.E474Q KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Missense_Mutation_p.E253Q NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 609 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(1) 4 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CATCCCCTTCGAGCAGGTAGA 0.711 NaN 0 0 0 0.115264 0 3 10 GIT1 28964 broad.mit.edu 37 17 27909075 27909075 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:27909075C>T uc002hef.2 - 5 707 c.493G>A c.(493-495)GAG>AAG p.E165K GIT1_uc002heg.2_Missense_Mutation_p.E165K|GIT1_uc010wbg.1_Missense_Mutation_p.E165K|GIT1_uc010csb.1_Missense_Mutation_p.E165K NM_014030 NP_054749 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interactor 1 165 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding 0 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GTGCCCTTCTCTGGGTGGAAG 0.617 NaN 0 0 0 0.214465 0 36 29 ACACA 31 broad.mit.edu 37 17 35549207 35549207 + Missense_Mutation SNP G G C rs148729289 byFrequency TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:35549207G>C uc002hnm.2 - 37 4320 c.4129C>G c.(4129-4131)CTG>GTG p.L1377V ACACA_uc002hnk.2_Missense_Mutation_p.L1299V|ACACA_uc002hnl.2_Missense_Mutation_p.L1319V|ACACA_uc002hnn.2_Missense_Mutation_p.L1377V|ACACA_uc002hno.2_Missense_Mutation_p.L1414V|ACACA_uc010cuy.2_Missense_Mutation_p.L71V NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1377 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGGAAAGCCAGAGCAGGCTCC 0.443 NaN 0 0 0 0.160694 0 14 29 AFMID 125061 broad.mit.edu 37 17 76201688 76201688 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:76201688G>T uc002jva.3 + 9 664 c.649G>T c.(649-651)GAC>TAC p.D217Y AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.D217Y NM_001010982 NP_001010982 Q63HM1 AFMID_HUMAN arylformamidase isoform 1 217 cytosol|nucleus arylformamidase activity large_intestine(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CCCCAGGGAGGACGCTCAGAG 0.672 NaN 1 0 4.63292e-17 0.204396 4.90193e-17 19 57 DNAH17 8632 broad.mit.edu 37 17 76454708 76454708 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:76454708C>G uc010dhp.1 - 7 1138 c.916G>C c.(916-918)GAG>CAG p.E306Q DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTGATTTTCTCAGCTGTTGCT 0.522 NaN 0 0 0 0.080422 0 33 86 C1QTNF1 114897 broad.mit.edu 37 17 77043906 77043906 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:77043906C>T uc002jwp.2 + 4 922 c.582C>T c.(580-582)TTC>TTT p.F194F C1QTNF1_uc002jwq.2_Silent_p.F112F|C1QTNF1_uc002jwr.3_Silent_p.F204F|C1QTNF1_uc002jws.2_Silent_p.F194F|C1QTNF1_uc002jwt.2_Silent_p.F292F NM_030968 NP_112230 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 194 C1q. collagen ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) GCCTCTACTTCTTCAGCCTCA 0.552 NaN 0 0 0 0.139131 0 82 69 METRNL 284207 broad.mit.edu 37 17 81043019 81043019 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:81043019G>A uc002kgh.2 + 2 501 c.376G>A c.(376-378)GAA>AAA p.E126K METRNL_uc002kgi.2_Missense_Mutation_p.E44K NM_001004431 NP_001004431 Q641Q3 METRL_HUMAN meteorin, glial cell differentiation 126 extracellular region 0 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AAAAACTGGAGAACTGAGACT 0.637 NaN 0 0 0 0.184627 0 4 66 PTPRM 5797 broad.mit.edu 37 18 8088834 8088834 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:8088834G>C uc002knn.3 + 11 2344 c.1841G>C c.(1840-1842)AGA>ACA p.R614T PTPRM_uc010dkv.2_Missense_Mutation_p.R614T|PTPRM_uc010wzl.1_Missense_Mutation_p.R401T NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 614 Fibronectin type-III 4.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) GCCCACAGCAGAGGAGCACCT 0.458 NaN 0 0 0 0.09836 0 38 15 GNAL 2774 broad.mit.edu 37 18 11868562 11868562 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:11868562G>A uc010dkz.2 + 10 946 c.700G>A c.(700-702)GTC>ATC p.V234I GNAL_uc002kqc.2_Missense_Mutation_p.V311I|GNAL_uc002kqd.2_Missense_Mutation_p.V234I|GNAL_uc010wzt.1_Missense_Mutation_p.V27I NM_001142339 NP_001135811 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), 234 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 TATCATTTACGTCGCAGCCTG 0.463 NaN 0 0 0 0.124865 0 33 79 DSG1 1828 broad.mit.edu 37 18 28926024 28926024 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:28926024G>C uc002kwp.2 + 14 2175 c.1963G>C c.(1963-1965)GAA>CAA p.E655Q DSG1_uc010xbp.1_Missense_Mutation_p.E14Q NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 655 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GACAGGATTTGAACTAACAGA 0.368 NaN 0 0 0 0.047766 0 7 28 KIAA1468 57614 broad.mit.edu 37 18 59925298 59925298 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:59925298G>C uc002lil.2 + 14 2229 c.2014G>C c.(2014-2016)GAT>CAT p.D672H KIAA1468_uc002lik.1_Missense_Mutation_p.D672H|KIAA1468_uc010xel.1_Missense_Mutation_p.D672H|KIAA1468_uc002lim.2_Missense_Mutation_p.D316H NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 672 HEAT 2. binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) GGGATACATTGATGATCCAGA 0.313 NaN 0 0 0 0.038147 0 5 16 CDH7 1005 broad.mit.edu 37 18 63511079 63511079 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:63511079C>T uc002ljz.2 + 7 1338 c.1013C>T c.(1012-1014)ACG>ATG p.T338M CDH7_uc002lka.2_Missense_Mutation_p.T338M|CDH7_uc002lkb.2_Missense_Mutation_p.T338M NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 338 Extracellular (Potential).|Cadherin 3. 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) ACAAGTTACACGCTACGGATA 0.418 NaN 0 0 0 0.069234 0 11 26 LMNB2 84823 broad.mit.edu 37 19 2438516 2438516 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:2438516C>T uc002lvy.2 - 3 442 c.355G>A c.(355-357)GAG>AAG p.E119K LMNB2_uc002lwa.1_Missense_Mutation_p.E139K NM_032737 NP_116126 Q03252 LMNB2_HUMAN lamin B2 119 Rod.|Coil 1B. nuclear inner membrane structural molecule activity large_intestine(1)|ovary(1) 2 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) AGCTCGCCCTCCCTCTTCTTG 0.662 NaN 0 0 0 0.083992 0 21 13 PTPRS 5802 broad.mit.edu 37 19 5214591 5214591 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:5214591C>T uc002mbv.2 - 29 4709 c.4475G>A c.(4474-4476)CGG>CAG p.R1492Q PTPRS_uc002mbu.1_Missense_Mutation_p.R1061Q|PTPRS_uc010xin.1_Missense_Mutation_p.R1034Q|PTPRS_uc002mbw.2_Missense_Mutation_p.R1454Q|PTPRS_uc002mbx.2_Missense_Mutation_p.R1049Q|PTPRS_uc002mby.2_Missense_Mutation_p.R1045Q NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1492 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. 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) CTCCTCCAGCCGCGTCATCAT 0.632 NaN 0 0 0 0.204396 0 19 55 PNPLA6 10908 broad.mit.edu 37 19 7625568 7625568 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:7625568G>A uc010xjq.1 + 31 3959 c.3764G>A c.(3763-3765)GGA>GAA p.G1255E PNPLA6_uc002mgq.1_Missense_Mutation_p.G1207E|PNPLA6_uc010xjp.1_Missense_Mutation_p.G1180E|PNPLA6_uc002mgr.1_Missense_Mutation_p.G1207E|PNPLA6_uc002mgs.2_Missense_Mutation_p.G1245E|PNPLA6_uc002mgt.1_RNA NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 1246 Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 GCGGTGTTTGGAGGCTGGAGC 0.587 NaN 0 0 0 0.153744 0 27 20 COL5A3 50509 broad.mit.edu 37 19 10073543 10073543 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:10073543G>A uc002mmq.1 - 65 4889 c.4803C>T c.(4801-4803)TCC>TCT p.S1601S NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1601 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) GCTTTTCCTTGGACCAGGAGG 0.532 NaN 0 0 0 0.09319 0 9 14 SMARCA4 6597 broad.mit.edu 37 19 11136115 11136115 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:11136115G>C uc002mqf.3 + 22 3383 c.3099G>C c.(3097-3099)AAG>AAC p.K1033N SMARCA4_uc010dxp.2_Missense_Mutation_p.K1033N|SMARCA4_uc010dxo.2_Missense_Mutation_p.K1033N|SMARCA4_uc002mqg.1_Missense_Mutation_p.K1033N|SMARCA4_uc010dxq.2_Missense_Mutation_p.K1033N|SMARCA4_uc010dxr.2_Missense_Mutation_p.K1033N|SMARCA4_uc002mqj.3_Missense_Mutation_p.K1033N|SMARCA4_uc010dxs.2_Missense_Mutation_p.K1033N|SMARCA4_uc010dxt.1_Missense_Mutation_p.K253N|SMARCA4_uc002mqh.3_Missense_Mutation_p.K156N|SMARCA4_uc002mqi.1_Missense_Mutation_p.K236N NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1033 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) GCGGCACCAAGACCCTGATGA 0.632 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.214465 0 29 118 RFX1 5989 broad.mit.edu 37 19 14076445 14076445 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:14076445G>A uc002mxv.2 - 15 2378 c.2106C>T c.(2104-2106)CCC>CCT p.P702P NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 702 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CACTGGGGATGGGCCGCAGCA 0.652 NaN 0 0 0 0.105934 0 12 43 JAK3 3718 broad.mit.edu 37 19 17948866 17948866 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:17948866T>C uc002nhn.3 - 12 1676 c.1576A>G c.(1576-1578)AAC>GAC p.N526D JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.N526D NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 526 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 TGGCCCAGGTTCTCATGCTGA 0.557 2 Mis acute megakaryocytic leukemia| 0 0 0 0.055883 0 18 44 HAPLN4 404037 broad.mit.edu 37 19 19369602 19369602 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:19369602G>T uc002nmb.2 - 4 602 c.547C>A c.(547-549)CGC>AGC p.R183S HAPLN4_uc002nmc.2_Missense_Mutation_p.R183S NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 183 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) GCGCACGCGCGCTGCGCCTCC 0.706 NaN 1 0 1.02788e-11 0.160694 1.0806e-11 11 18 DPY19L3 147991 broad.mit.edu 37 19 32930745 32930745 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:32930745C>G uc002ntg.2 + 8 960 c.784C>G c.(784-786)CAA>GAA p.Q262E DPY19L3_uc002nth.1_Missense_Mutation_p.Q262E|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 262 Helical; (Potential). integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) GCAATTTAATCAATTTATGAT 0.393 NaN 0 0 0 0.139131 0 44 48 APLP1 333 broad.mit.edu 37 19 36370075 36370075 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:36370075C>A uc002oce.2 + 16 1948 c.1810C>A c.(1810-1812)CGC>AGC p.R604S APLP1_uc010xsz.1_Missense_Mutation_p.R565S|APLP1_uc002ocf.2_Missense_Mutation_p.R605S|APLP1_uc002ocg.2_Missense_Mutation_p.R508S|APLP1_uc010xta.1_Missense_Mutation_p.R598S NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 604 Cytoplasmic (Potential).|Basolateral sorting signal (By similarity). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCTGCTCCTGCGCAGGAAGAA 0.657 NaN 1 0 1.85244e-09 0.083992 1.91672e-09 23 107 MEGF8 1954 broad.mit.edu 37 19 42880156 42880156 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:42880156C>T uc002otl.3 + 41 8201 c.7566C>T c.(7564-7566)GTC>GTT p.V2522V MEGF8_uc002otm.3_Silent_p.V2130V|MEGF8_uc002otn.3_Silent_p.V183V NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2589 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) TGCTGGTGGTCCGCGGCGTGC 0.692 NaN 0 0 0 0.139131 0 87 149 RSPH6A 81492 broad.mit.edu 37 19 46308019 46308019 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:46308019C>G uc002pdm.2 - 3 1287 c.1144G>C c.(1144-1146)GAG>CAG p.E382Q RSPH6A_uc002pdl.2_Missense_Mutation_p.E118Q NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 382 Glu-rich. intracellular ovary(1)|central_nervous_system(1) 2 tccATGACCTCGCCACCTTCC 0.358 NaN 0 0 0 0.105934 0 12 20 LIG1 3978 broad.mit.edu 37 19 48634393 48634393 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:48634393G>A uc002pia.1 - 19 1881 c.1761C>T c.(1759-1761)TTC>TTT p.F587F LIG1_uc010xze.1_Silent_p.F280F|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.F519F|LIG1_uc010xzg.1_Silent_p.F556F NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 587 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GATTCCTGCTGAAGATCTTCA 0.577 NaN NER 0 0 0 0.047766 0 7 117 DBP 1628 broad.mit.edu 37 19 49134232 49134232 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:49134232C>G uc002pjx.3 - 4 1228 c.840G>C c.(838-840)GAG>GAC p.E280D DBP_uc002pjy.2_3'UTR NM_001352 NP_001343 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) 280 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) ATATCTGGTTCTCCTTGAGCC 0.652 NaN 0 0 0 0.163468 0 24 33 RASIP1 54922 broad.mit.edu 37 19 49224075 49224075 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:49224075G>C uc002pki.2 - 12 3069 c.2872C>G c.(2872-2874)CCC>GCC p.P958A MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.P219A NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 958 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-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;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GTGGCCACGGGAGGCCCATGG 0.602 NaN 0 0 0 0.139131 0 87 150 AP2A1 160 broad.mit.edu 37 19 50302947 50302947 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:50302947G>A uc002ppn.2 + 10 1407 c.1196G>A c.(1195-1197)CGG>CAG p.R399Q AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.R399Q|AP2A1_uc002ppp.1_5'Flank NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 399 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) ATGTGTGACCGGAGCAATGCC 0.592 NaN 0 0 0 0.139131 0 83 136 ZNF761 388561 broad.mit.edu 37 19 53959831 53959831 + Silent SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:53959831T>C uc010eqp.2 + 7 2528 c.2070T>C c.(2068-2070)TAT>TAC p.Y690Y ZNF761_uc010ydy.1_Silent_p.Y636Y|ZNF761_uc002qbt.1_Silent_p.Y636Y NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 690 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) AGAAACCTTATAAGTGTAATG 0.393 NaN 0 0 0 0.184627 0 5 75 TTYH1 57348 broad.mit.edu 37 19 54932494 54932494 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:54932494G>A uc002qfq.2 + 3 441 c.349G>A c.(349-351)GAT>AAT p.D117N TTYH1_uc010yey.1_Missense_Mutation_p.D166N|TTYH1_uc002qfr.2_Missense_Mutation_p.D117N|TTYH1_uc002qft.2_Missense_Mutation_p.D117N|TTYH1_uc002qfu.1_Missense_Mutation_p.D32N NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 117 Extracellular (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) TGAGACCAGTGATGGGGTGTC 0.637 NaN 0 0 0 0.124865 0 36 164 ZNF550 162972 broad.mit.edu 37 19 58058953 58058953 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:58058953C>T uc002qpe.1 - 2 536 c.536G>A c.(535-537)CGA>CAA p.R179Q ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 220 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCTCTGATGTCGAACGAGATA 0.483 NaN 0 0 0 0.139131 0 42 65 ZSCAN22 342945 broad.mit.edu 37 19 58846394 58846394 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:58846394C>G uc002qsc.2 + 2 373 c.226C>G c.(226-228)CAG>GAG p.Q76E ZSCAN22_uc010yhz.1_Missense_Mutation_p.Q76E NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 76 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GCTGTGCTGTCAGTGGCTGCA 0.657 NaN 0 0 0 0.09319 0 11 128 LPIN1 23175 broad.mit.edu 37 2 11964910 11964910 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:11964910C>T uc010yjn.1 + 21 2940 c.2666C>T c.(2665-2667)TCA>TTA p.S889L LPIN1_uc010yjm.1_Missense_Mutation_p.S974L|LPIN1_uc002rbt.2_Missense_Mutation_p.S889L|LPIN1_uc010yjo.1_Missense_Mutation_p.S390L NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 889 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CATTCTGCCTCAGCGTAAAAT 0.517 NaN 0 0 0 0.146539 0 12 35 TRIB2 28951 broad.mit.edu 37 2 12880633 12880633 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:12880633G>A uc002rbv.3 + 3 2181 c.745G>A c.(745-747)GTG>ATG p.V249M TRIB2_uc010yjp.1_Missense_Mutation_p.V113M NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 249 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CACCATGTTGGTGGGGCGGTA 0.582 NaN 0 0 0 0.080422 0 32 22 APOB 338 broad.mit.edu 37 2 21224807 21224807 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:21224807C>G uc002red.2 - 29 13615 c.13487G>C c.(13486-13488)AGA>ACA p.R4496T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4496 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAGTTTATATCTAAACTGCTG 0.363 NaN 0 0 0 0.080935 0 11 38 C2orf16 84226 broad.mit.edu 37 2 27800241 27800241 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:27800241G>A uc002rkz.3 + 1 853 c.802G>A c.(802-804)GAA>AAA p.E268K NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 268 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) GATTACTCCGGAACTCAAGCA 0.463 NaN 0 0 0 0.193644 0 27 37 PLEKHH2 130271 broad.mit.edu 37 2 43991401 43991401 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:43991401T>C uc010yny.1 + 29 4276 c.4193T>C c.(4192-4194)ATG>ACG p.M1398T NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1398 FERM. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAGAGTCTAATGACCTTTGGA 0.328 NaN 0 0 0 0.189662 0 16 19 RHOQ 23433 broad.mit.edu 37 2 46770291 46770291 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:46770291G>A uc002rva.2 + 1 425 c.106G>A c.(106-108)GAG>AAG p.E36K ATP6V1E2_uc002ruz.2_5'Flank NM_012249 NP_036381 P17081 RHOQ_HUMAN ras-like protein TC10 precursor 36 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CGCCTTCCCGGAGGAGTACGT 0.652 NaN 0 0 0 0.139131 0 51 172 NRXN1 9378 broad.mit.edu 37 2 50733744 50733744 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:50733744C>G uc010fbq.2 - 13 3983 c.2506G>C c.(2506-2508)GAG>CAG p.E836Q NRXN1_uc002rxb.3_Missense_Mutation_p.E468Q|NRXN1_uc002rxe.3_Missense_Mutation_p.E796Q|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAAAGAGTCTCGGGACCTTTG 0.378 NaN 0 0 0 0.069234 0 9 19 KIAA1841 84542 broad.mit.edu 37 2 61333734 61333734 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:61333734A>G uc002saw.3 + 14 1851 c.1548A>G c.(1546-1548)ATA>ATG p.I516M KIAA1841_uc002sax.3_Missense_Mutation_p.I370M|KIAA1841_uc002say.2_Missense_Mutation_p.I516M NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 516 0 Epithelial(17;0.193) AAAAGGGTATAGAATGTGATG 0.348 NaN 0 0 0 0.0918 0 18 45 ATP6V1B1 525 broad.mit.edu 37 2 71187068 71187068 + Splice_Site SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:71187068G>A uc002shj.2 + 6 533 c.446_splice c.e6-1 p.G149_splice ATP6V1B1_uc002shi.1_Splice_Site_p.G149_splice|ATP6V1B1_uc010fdv.2_Splice_Site_p.G149_splice|ATP6V1B1_uc010fdw.2_Splice_Site|ATP6V1B1_uc010fdx.2_Splice_Site_p.G107_splice NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 CCCTCTCCCAGGCCAGCCCAT 0.547 NaN 0 0 0 0.092188 0 30 103 CNTNAP5 129684 broad.mit.edu 37 2 125261952 125261952 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:125261952C>T uc002tno.2 + 8 1507 c.1143C>T c.(1141-1143)CCC>CCT p.P381P CNTNAP5_uc010flu.2_Silent_p.P382P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 381 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGCTGCTGCCCGGCACCCCCC 0.512 NaN 0 0 0 0.139131 0 42 25 THSD7B 80731 broad.mit.edu 37 2 137928489 137928489 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:137928489C>T uc002tva.1 + 6 1611 c.1611C>T c.(1609-1611)GCC>GCT p.A537A THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.A427A NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TTCTGAAGGCCGTCTGCCAGA 0.483 NaN 0 0 0 0.160694 0 11 12 LYPD6B 130576 broad.mit.edu 37 2 150071149 150071149 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:150071149G>A uc002twv.1 + 7 950 c.549G>A c.(547-549)CAG>CAA p.Q183Q LYPD6B_uc002tww.1_Silent_p.Q145Q|LYPD6B_uc002twx.1_Silent_p.Q145Q NM_177964 NP_808879 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 159 anchored to membrane|plasma membrane 0 TGCACGCTCAGAGAACATCTG 0.493 NaN 0 0 0 0.139131 0 63 148 TTN 7273 broad.mit.edu 37 2 179610636 179610636 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:179610636C>G uc002unb.2 - 46 16715 c.16491G>C c.(16489-16491)AAG>AAC p.K5497N TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TGTAGTTGCTCTTTAAGACCA 0.408 NaN 0 0 0 0.189662 0 15 44 FAM171B 165215 broad.mit.edu 37 2 187627410 187627410 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:187627410G>A uc002ups.2 + 8 2453 c.2341G>A c.(2341-2343)GGA>AGA p.G781R FAM171B_uc002upr.1_Missense_Mutation_p.G748R|FAM171B_uc002upt.2_Missense_Mutation_p.G250R NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 781 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 AGAGTCGCCAGGAAGGAAAAG 0.502 NaN 0 0 0 0.150653 0 3 18 ALS2CR11 151254 broad.mit.edu 37 2 202400897 202400897 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:202400897C>T uc002uye.2 - 13 1401 c.1353G>A c.(1351-1353)CAG>CAA p.Q451Q ALS2CR11_uc002uyf.2_Silent_p.Q451Q|ALS2CR11_uc010fti.2_Intron NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 451 large_intestine(1)|ovary(1)|skin(1) 3 TTATTGTTTCCTGGTTAGAAA 0.373 NaN 0 0 0 0.047766 0 8 55 INO80D 54891 broad.mit.edu 37 2 206882469 206882469 + Missense_Mutation SNP A A C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:206882469A>C uc002vaz.3 - 8 1882 c.1477T>G c.(1477-1479)TGC>GGC p.C493G NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 493 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GGCACAGAGCACTGCTGTCCA 0.373 NaN 0 0 0 0.069234 0 9 11 TNS1 7145 broad.mit.edu 37 2 218700908 218700908 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:218700908C>T uc002vgt.2 - 18 3057 c.2659G>A c.(2659-2661)GCA>ACA p.A887T TNS1_uc002vgr.2_Missense_Mutation_p.A887T|TNS1_uc002vgs.2_Missense_Mutation_p.A887T|TNS1_uc010zjv.1_Missense_Mutation_p.A887T NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 887 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGGGGCTCTGCAGGCTGCTTC 0.582 NaN 0 0 0 0.047766 0 6 51 SH3BP4 23677 broad.mit.edu 37 2 235943684 235943684 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:235943684G>A uc002vvp.2 + 3 431 c.38G>A c.(37-39)GGC>GAC p.G13D SH3BP4_uc010fym.2_Missense_Mutation_p.G13D|SH3BP4_uc002vvq.2_Missense_Mutation_p.G13D NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 13 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AACTCCAATGGCCTCCCTCGC 0.552 NaN 0 0 0 0.021553 0 5 30 SFRS6 6431 broad.mit.edu 37 20 42088479 42088479 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr20:42088479G>C uc010zwg.1 + 3 495 c.325G>C c.(325-327)GAA>CAA p.E109Q SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.E109Q NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 109 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TGTTCGTACAGAATACAGGCT 0.398 NaN 0 0 0 0.139131 0 45 66 C20orf111 51526 broad.mit.edu 37 20 42825950 42825950 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr20:42825950C>T uc002xlk.2 - 4 758 c.621G>A c.(619-621)AAG>AAA p.K207K NM_016470 NP_057554 Q9NX31 CT111_HUMAN oxidative stress responsive 1 207 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CATGCCATCTCTTACACTGGC 0.488 NaN 0 0 0 0.153744 0 23 60 NFATC2 4773 broad.mit.edu 37 20 50139887 50139887 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr20:50139887G>C uc002xwd.2 - 2 1113 c.893C>G c.(892-894)GCT>GGT p.A298G NFATC2_uc002xwc.2_Missense_Mutation_p.A298G|NFATC2_uc010zyv.1_Missense_Mutation_p.A79G|NFATC2_uc010zyw.1_Missense_Mutation_p.A79G|NFATC2_uc010zyx.1_Missense_Mutation_p.A278G|NFATC2_uc010zyy.1_Missense_Mutation_p.A79G|NFATC2_uc010zyz.1_Missense_Mutation_p.A79G|NFATC2_uc002xwe.2_Missense_Mutation_p.A278G NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 298 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) GGCAGAGCCAGCCACAGGGGG 0.706 NaN 0 0 0 0.132662 0 13 20 MYT1 4661 broad.mit.edu 37 20 62871220 62871220 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr20:62871220C>T uc002yii.2 + 22 3565 c.3201C>T c.(3199-3201)CTC>CTT p.L1067L MYT1_uc002yij.2_Silent_p.L726L|MYT1_uc002yik.2_Silent_p.L33L NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 1067 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCCAGGCCCTCATCCAAAGTC 0.592 NaN 0 0 0 0.139131 0 40 260 USP25 29761 broad.mit.edu 37 21 17250767 17250767 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:17250767C>T uc002yjy.1 + 24 3358 c.3141C>T c.(3139-3141)CTC>CTT p.L1047L USP25_uc011aby.1_Silent_p.L1117L|USP25_uc002yjz.1_Silent_p.L1079L|USP25_uc010gla.1_Silent_p.L442L NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 1047 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TGTTGTCCCTCAGTCGAACTC 0.433 NaN 0 0 0 0.139131 0 32 35 TMPRSS3 64699 broad.mit.edu 37 21 43802184 43802184 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:43802184G>C uc002zbb.2 - 9 1143 c.942C>G c.(940-942)CTC>CTG p.L314L TMPRSS3_uc002zay.2_Silent_p.L72L|TMPRSS3_uc002zaz.2_Silent_p.L187L|TMPRSS3_uc002zba.2_Silent_p.L187L|TMPRSS3_uc002zbc.2_Silent_p.L314L|TMPRSS3_uc002zbd.2_Silent_p.L314L NM_024022 NP_076927 P57727 TMPS3_HUMAN transmembrane protease, serine 3 isoform 1 314 Peptidase S1.|Extracellular (Potential). cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity ovary(2)|breast(1) 3 CATTGAACGTGAGTGGCCCGG 0.373 NaN 0 0 0 0.139131 0 36 44 PWP2 5822 broad.mit.edu 37 21 45550606 45550606 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:45550606C>G uc002zeb.2 + 21 2803 c.2713C>G c.(2713-2715)CTG>GTG p.L905V C21orf33_uc002zec.3_5'Flank|C21orf33_uc002zed.3_5'Flank NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 905 cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CAGCCTGCATCTGCTTGGAGG 0.582 NaN 0 0 0 0.139131 0 53 60 C21orf70 85395 broad.mit.edu 37 21 46363637 46363637 + Silent SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:46363637C>A uc002zgl.2 + 2 186 c.168C>A c.(166-168)ACC>ACA p.T56T C21orf70_uc002zgm.2_Silent_p.T56T NM_058190 NP_478070 Q9NSI2 CU070_HUMAN hypothetical protein LOC85395 56 0 Colorectal(79;0.248) TTGCCAGGACCAAGATAGACC 0.552 NaN 1 0 1.04352e-10 0.193644 1.09004e-10 29 69 PCNT 5116 broad.mit.edu 37 21 47786794 47786794 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:47786794G>C uc002zji.3 + 15 3012 c.2905G>C c.(2905-2907)GAT>CAT p.D969H PCNT_uc002zjj.2_Missense_Mutation_p.D851H NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 969 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GTCCAGCCTTGATTCTTTGGA 0.562 NaN 0 0 0 0.134883 0 26 82 CHEK2 11200 broad.mit.edu 37 22 29106036 29106036 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:29106036G>A uc003adu.1 - 7 876 c.804C>T c.(802-804)CTC>CTT p.L268L CHEK2_uc003ads.1_Silent_p.L47L|CHEK2_uc010gvh.1_Silent_p.L177L|CHEK2_uc010gvi.1_Silent_p.L268L|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.L311L|CHEK2_uc003adv.1_Silent_p.L268L|CHEK2_uc003adw.1_Silent_p.L268L|CHEK2_uc003adx.1_Silent_p.L47L|CHEK2_uc003ady.1_Silent_p.L268L|CHEK2_uc003adz.1_Silent_p.L72L NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 268 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 TTTCAACATTGAGAGCTGGGT 0.264 NaN F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 0 0 0 0.058154 0 7 5 EIF3L 51386 broad.mit.edu 37 22 38266268 38266268 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:38266268G>A uc003auf.2 + 8 752 c.665G>A c.(664-666)TGG>TAG p.W222* EIF3L_uc003aue.1_Nonsense_Mutation_p.W222*|EIF3L_uc011ann.1_Nonsense_Mutation_p.W174*|EIF3L_uc003aug.2_Nonsense_Mutation_p.W114*|EIF3L_uc003auh.2_5'UTR NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 222 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 CCCAAAATCTGGAATGTTCAT 0.458 NaN 0 0 0 0.175082 0 16 25 EP300 2033 broad.mit.edu 37 22 41572404 41572404 + Nonsense_Mutation SNP C C T rs139310551 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41572404C>T uc003azl.3 + 30 5328 c.4933C>T c.(4933-4935)CGA>TGA p.R1645* NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1645 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.R1645R(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CTCTTCACTCCGAAGAGCCCA 0.557 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.080422 0 34 13 EP300 2033 broad.mit.edu 37 22 41572932 41572932 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41572932C>G uc003azl.3 + 31 5612 c.5217C>G c.(5215-5217)ATC>ATG p.I1739M NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1739 Binding region for E1A adenovirus.|TAZ-type 2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 AGCGCTGCATCCAGTCTCTGG 0.562 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.124865 0 37 16 EP300 2033 broad.mit.edu 37 22 41573079 41573079 + Silent SNP C C G rs143551315 byFrequency TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41573079C>G uc003azl.3 + 31 5759 c.5364C>G c.(5362-5364)CTC>CTG p.L1788L NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1788 Binding region for E1A adenovirus.|TAZ-type 2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TCATTGCCCTCTGCTGCTACC 0.572 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.139131 0 54 23 EP300 2033 broad.mit.edu 37 22 41573719 41573719 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41573719C>G uc003azl.3 + 31 6399 c.6004C>G c.(6004-6006)CAG>GAG p.Q2002E NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 2002 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 AGGATTGCCTCAGCCCCAGCA 0.602 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.131918 0 37 17 EP300 2033 broad.mit.edu 37 22 41573838 41573838 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41573838C>G uc003azl.3 + 31 6518 c.6123C>G c.(6121-6123)CTC>CTG p.L2041L NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 2041 Interaction with HTLV-1 Tax.|Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TCAGCCCACTCAAACCAGGCA 0.547 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.139131 0 48 25 EP300 2033 broad.mit.edu 37 22 41573889 41573889 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41573889C>G uc003azl.3 + 31 6569 c.6174C>G c.(6172-6174)CTC>CTG p.L2058L NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 2058 Interaction with HTLV-1 Tax.|Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TGCGGACTCTCAGGTCTCCCA 0.552 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.139131 0 52 24 MEI1 150365 broad.mit.edu 37 22 42112115 42112115 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:42112115T>C uc003baz.1 + 5 519 c.494T>C c.(493-495)ATC>ACC p.I165T MEI1_uc003bay.3_Missense_Mutation_p.I165T|MEI1_uc011apd.1_RNA NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 165 binding central_nervous_system(1)|skin(1) 2 GTGGATGCCATCCCTGCTCTG 0.517 NaN 0 0 0 0.160694 0 14 32 ITPR1 3708 broad.mit.edu 37 3 4711438 4711438 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:4711438G>A uc003bqa.2 + 19 2335 c.1987G>A c.(1987-1989)GAC>AAC p.D663N ITPR1_uc010hca.1_Missense_Mutation_p.D648N|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.D648N NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 663 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CACCAACGCTGACATCCTGAT 0.468 NaN 0 0 0 0.02938 0 6 13 ITPR1 3708 broad.mit.edu 37 3 4711446 4711446 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:4711446G>A uc003bqa.2 + 19 2343 c.1995G>A c.(1993-1995)CTG>CTA p.L665L ITPR1_uc010hca.1_Silent_p.L650L|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Silent_p.L650L NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 665 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CTGACATCCTGATTGAGACCA 0.463 NaN 0 0 0 0.184627 0 5 12 ALAS1 211 broad.mit.edu 37 3 52245397 52245397 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:52245397C>G uc003dcy.1 + 10 1766 c.1429C>G c.(1429-1431)CTG>GTG p.L477V ALAS1_uc003dcz.1_Missense_Mutation_p.L477V|ALAS1_uc011bec.1_Missense_Mutation_p.L494V NM_000688 NP_000679 P13196 HEM1_HUMAN 5-aminolevulinate synthase 1 precursor 477 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(2)|upper_aerodigestive_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CACCACCTCTCTGCCACCCAT 0.592 NaN 0 0 0 0.055883 0 20 9 FAM19A4 151647 broad.mit.edu 37 3 68802156 68802156 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:68802156G>C uc003dnh.1 - 4 587 c.144C>G c.(142-144)ATC>ATG p.I48M FAM19A4_uc003dni.1_Missense_Mutation_p.I48M NM_182522 NP_872328 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine 48 extracellular region skin(2) 2 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TCCCTTGCTTGATTTGGTGGT 0.493 NaN 0 0 0 0.144211 0 23 10 CADM2 253559 broad.mit.edu 37 3 86010686 86010686 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:86010686G>C uc003dqj.2 + 7 1458 c.832G>C c.(832-834)GGT>CGT p.G278R CADM2_uc003dqk.2_Missense_Mutation_p.G287R|CADM2_uc003dql.2_Missense_Mutation_p.G280R NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 278 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GGTTGTGAGTGGTAGGGAGCT 0.433 NaN 0 0 0 0.163468 0 26 83 NSUN3 63899 broad.mit.edu 37 3 93802971 93802971 + Nonsense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:93802971C>G uc003drl.1 + 3 259 c.143C>G c.(142-144)TCA>TGA p.S48* NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 48 methyltransferase activity skin(1) 1 ACATCTCCATCATGCTGGCAA 0.338 NaN 0 0 0 0.099896 0 23 24 BBX 56987 broad.mit.edu 37 3 107520009 107520009 + Silent SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:107520009A>G uc010hpr.2 + 17 2946 c.2619A>G c.(2617-2619)AAA>AAG p.K873K BBX_uc003dwk.3_Silent_p.K843K|BBX_uc003dwl.3_Missense_Mutation_p.N537S|BBX_uc003dwm.3_Silent_p.K843K|BBX_uc003dwo.3_Missense_Mutation_p.N190S NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 873 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GCAATGACAAATGCTCACACA 0.512 NaN 0 0 0 0.139131 0 43 32 RPN1 6184 broad.mit.edu 37 3 128356705 128356705 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:128356705G>A uc003ekr.1 - 3 646 c.570C>T c.(568-570)AAC>AAT p.N190N RPN1_uc011bkq.1_Silent_p.N18N NM_002950 NP_002941 P04843 RPN1_HUMAN ribophorin I precursor 190 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(114;0.189) AGCGCGTGGGGTTCCCCAGCT 0.532 NaN T EVI1 AML 0 0 0 0.108266 0 23 83 RNF7 9616 broad.mit.edu 37 3 141462354 141462354 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:141462354C>T uc003eud.2 + 2 312 c.179C>T c.(178-180)GCC>GTC p.A60V RNF7_uc003euc.2_Missense_Mutation_p.P58S|RNF7_uc003eue.2_RNA NM_014245 NP_055060 Q9UBF6 RBX2_HUMAN ring finger protein 7 isoform 1 60 anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state cytoplasm|nucleus copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding 0 CTTTTAGATGCCTGTCTTAGA 0.373 NaN 0 0 0 0.204396 0 16 35 MAP3K13 9175 broad.mit.edu 37 3 185155308 185155308 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:185155308C>T uc010hyf.2 + 4 815 c.549C>T c.(547-549)TTC>TTT p.F183F MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Silent_p.F39F|MAP3K13_uc003fpi.2_Silent_p.F183F|MAP3K13_uc010hyg.2_Intron NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 183 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GAGCGGTCTTCTTGGGCAAGT 0.498 NaN 0 0 0 0.139131 0 49 89 DGKG 1608 broad.mit.edu 37 3 186006603 186006603 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:186006603G>A uc003fqa.2 - 6 977 c.440C>T c.(439-441)CCC>CTC p.P147L DGKG_uc003fqb.2_Missense_Mutation_p.P147L|DGKG_uc003fqc.2_Missense_Mutation_p.P147L|DGKG_uc011brx.1_Missense_Mutation_p.P147L NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 147 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CCGAGGGACGGGGGGTTCCAG 0.547 NaN 0 0 0 0.139131 0 100 310 OPA1 4976 broad.mit.edu 37 3 193384092 193384092 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:193384092G>C uc003ftm.2 + 26 2855 c.2621G>C c.(2620-2622)TGC>TCC p.C874S OPA1_uc003ftg.2_Missense_Mutation_p.C929S|OPA1_uc003fth.2_Missense_Mutation_p.C893S|OPA1_uc003fti.2_Missense_Mutation_p.C911S|OPA1_uc003ftj.2_Missense_Mutation_p.C892S|OPA1_uc003ftk.2_Missense_Mutation_p.C875S|OPA1_uc003ftl.2_Missense_Mutation_p.C856S|OPA1_uc003ftn.2_Missense_Mutation_p.C838S NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 874 Mitochondrial intermembrane (By similarity). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CAGTTGGAATGCAATGATGTG 0.358 NaN 0 0 0 0.0918 0 21 56 SENP5 205564 broad.mit.edu 37 3 196613169 196613169 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:196613169C>T uc003fwz.3 + 2 1366 c.1117C>T c.(1117-1119)CAT>TAT p.H373Y SENP5_uc011bty.1_Missense_Mutation_p.H373Y NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 373 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AGAGCTGATTCATGACATCCC 0.443 NaN 0 0 0 0.058154 0 6 38 DLG1 1739 broad.mit.edu 37 3 196792639 196792639 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:196792639C>G uc003fxo.3 - 22 2363 c.2173G>C c.(2173-2175)GAC>CAC p.D725H DLG1_uc011bub.1_Missense_Mutation_p.D621H|DLG1_uc011buc.1_Missense_Mutation_p.D609H|DLG1_uc011bud.1_Missense_Mutation_p.D408H|DLG1_uc003fxn.3_Missense_Mutation_p.D747H|DLG1_uc011bue.1_Missense_Mutation_p.D713H|DLG1_uc010ial.2_Missense_Mutation_p.D725H NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 725 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TTTATCCTGTCTTTCATAGGT 0.299 NaN 0 0 0 0.175082 0 12 42 ZNF721 170960 broad.mit.edu 37 4 436766 436766 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:436766C>A uc003gag.2 - 3 2181 c.1490G>T c.(1489-1491)GGC>GTC p.G497V ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G529V|ZNF721_uc010ibe.2_Missense_Mutation_p.G485V NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 497 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GGGTTTCTCGCCAGTATGAAT 0.383 NaN 1 0 9.31168e-06 0.105934 9.54447e-06 11 41 NMU 10874 broad.mit.edu 37 4 56475309 56475309 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:56475309A>G uc003hbc.2 - 4 363 c.257T>C c.(256-258)ATG>ACG p.M86T NMU_uc003hbd.1_RNA|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Missense_Mutation_p.M1T|NMU_uc010igx.1_RNA NM_006681 NP_006672 P48645 NMU_HUMAN neuromedin U precursor 86 neuropeptide signaling pathway extracellular region 0 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) TAGCATTCCCATAATCATAAA 0.358 NaN 0 0 0 0.139131 0 41 24 EXOC1 55763 broad.mit.edu 37 4 56734667 56734667 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:56734667G>C uc003hbe.1 + 5 739 c.581G>C c.(580-582)AGA>ACA p.R194T EXOC1_uc003hbf.1_Missense_Mutation_p.R194T|EXOC1_uc003hbg.1_Missense_Mutation_p.R194T NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 194 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) AAATTGTCCAGAGAGCTGCAG 0.388 NaN 0 0 0 0.080935 0 9 49 AFF1 4299 broad.mit.edu 37 4 88052994 88052994 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:88052994G>C uc003hqj.3 + 17 3537 c.3130G>C c.(3130-3132)GAG>CAG p.E1044Q AFF1_uc011ccz.1_Missense_Mutation_p.E1051Q|AFF1_uc003hqk.3_Missense_Mutation_p.E1044Q|AFF1_uc011cda.1_Missense_Mutation_p.E682Q NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1044 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GCCAACACAAGAGAAAATATT 0.308 NaN 0 0 0 0.150653 0 3 14 NDST3 9348 broad.mit.edu 37 4 119158371 119158371 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:119158371A>G uc003ibx.2 + 10 2517 c.2114A>G c.(2113-2115)TAC>TGC p.Y705C NDST3_uc011cgf.1_3'UTR NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 705 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 TACTCCTGGTACCAGGTAAGG 0.443 NaN 0 0 0 0.09319 0 8 35 SPATA5 166378 broad.mit.edu 37 4 124177235 124177235 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:124177235G>A uc003iez.3 + 15 2478 c.2405G>A c.(2404-2406)AGA>AAA p.R802K NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 802 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 GCAGCAACAAGAAGGGAAATA 0.438 NaN 0 0 0 0.139131 0 42 15 NAA15 80155 broad.mit.edu 37 4 140299981 140299981 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:140299981G>A uc003ihu.1 + 17 2384 c.2128G>A c.(2128-2130)GAG>AAG p.E710K NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 710 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 CTGGCTTCATGAGTGTATGAT 0.328 NaN 0 0 0 0.108266 0 20 14 ADAM29 11086 broad.mit.edu 37 4 175896737 175896737 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:175896737C>A uc003iuc.2 + 5 731 c.61C>A c.(61-63)CAG>AAG p.Q21K ADAM29_uc003iud.2_Missense_Mutation_p.Q21K|ADAM29_uc010irr.2_Missense_Mutation_p.Q21K|ADAM29_uc011cki.1_Missense_Mutation_p.Q21K NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 21 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGGACACATCCAGGATGAGCA 0.507 NaN 1 0 1.96895e-08 0.076483 2.03086e-08 20 75 ODZ3 55714 broad.mit.edu 37 4 183245337 183245337 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:183245337C>T uc003ivd.1 + 1 201 c.164C>T c.(163-165)TCG>TTG p.S55L ODZ3_uc010irv.1_Missense_Mutation_p.S55L NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 55 Cytoplasmic (Potential).|Teneurin N-terminal. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CATGATTCCTCGCGGCTGCTT 0.483 NaN 0 0 0 0.069288 0 20 57 SEMA5A 9037 broad.mit.edu 37 5 9190395 9190395 + Silent SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:9190395G>T uc003jek.2 - 11 1969 c.1257C>A c.(1255-1257)ATC>ATA p.I419I NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 419 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CCAAATAGATGATGTGGACGA 0.498 NaN 1 0 0.000442599 0.058154 0.000446685 8 34 NUP155 9631 broad.mit.edu 37 5 37292081 37292081 + Missense_Mutation SNP G G C rs140076285 byFrequency TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:37292081G>C uc003jku.1 - 35 4215 c.4097C>G c.(4096-4098)TCT>TGT p.S1366C NUP155_uc003jkt.1_Missense_Mutation_p.S1307C|NUP155_uc010iuz.1_Missense_Mutation_p.S1302C NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1366 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CGAGCTCATAGACTGGAGCTC 0.363 NaN 0 0 0 0.055883 0 18 47 MAP1B 4131 broad.mit.edu 37 5 71494257 71494257 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:71494257C>G uc003kbw.3 + 5 5316 c.5075C>G c.(5074-5076)TCT>TGT p.S1692C MAP1B_uc010iyw.1_Missense_Mutation_p.S1709C|MAP1B_uc010iyx.1_Missense_Mutation_p.S1566C|MAP1B_uc010iyy.1_Missense_Mutation_p.S1566C NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1692 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TACAGTCCTTCTGACATGCAG 0.488 NaN 0 0 0 0.183431 0 33 16 TNPO1 3842 broad.mit.edu 37 5 72189254 72189254 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:72189254G>A uc003kck.3 + 17 2094 c.1947G>A c.(1945-1947)ATG>ATA p.M649I TNPO1_uc011csj.1_Missense_Mutation_p.M599I|TNPO1_uc003kch.2_Missense_Mutation_p.M641I|TNPO1_uc003kci.3_Missense_Mutation_p.M641I|TNPO1_uc003kcg.3_Missense_Mutation_p.M641I NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 649 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) AAGATTTTATGATAGTGGCTC 0.378 NaN 0 0 0 0.184627 0 4 25 CMYA5 202333 broad.mit.edu 37 5 79026793 79026793 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:79026793G>A uc003kgc.2 + 2 2277 c.2205G>A c.(2203-2205)GAG>GAA p.E735E NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 735 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) CATCAGAAGAGAAGGAAGACA 0.463 NaN 0 0 0 0.175082 0 13 49 GPR98 84059 broad.mit.edu 37 5 90078972 90078972 + Silent SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:90078972A>G uc003kju.2 + 66 13359 c.13263A>G c.(13261-13263)CCA>CCG p.P4421P GPR98_uc003kjt.2_Silent_p.P2127P|GPR98_uc003kjw.2_Silent_p.P82P NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4421 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCATGATCCCAGTGGTGAGGC 0.448 NaN 0 0 0 0.139131 0 43 168 CAST 831 broad.mit.edu 37 5 96090429 96090429 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:96090429G>A uc003klz.1 + 20 1607 c.1445G>A c.(1444-1446)AGA>AAA p.R482K CAST_uc003klt.2_Missense_Mutation_p.R469K|CAST_uc003klu.2_Missense_Mutation_p.R565K|CAST_uc003klv.2_Missense_Mutation_p.R543K|CAST_uc003klw.2_Missense_Mutation_p.R546K|CAST_uc003klx.2_Missense_Mutation_p.R524K|CAST_uc003kly.2_Missense_Mutation_p.R530K|CAST_uc011cuo.1_Missense_Mutation_p.R528K|CAST_uc011cuq.1_Missense_Mutation_p.R330K|CAST_uc011cur.1_Missense_Mutation_p.R468K|CAST_uc011cus.1_Missense_Mutation_p.R469K|CAST_uc003kma.1_Missense_Mutation_p.R441K|CAST_uc011cut.1_Missense_Mutation_p.R410K|CAST_uc003kmb.2_Missense_Mutation_p.R428K|CAST_uc003kmc.2_Missense_Mutation_p.R482K|CAST_uc003kmd.2_Missense_Mutation_p.R460K|CAST_uc003kme.2_Missense_Mutation_p.R441K|CAST_uc003kmf.2_Missense_Mutation_p.R447K|CAST_uc003kmh.2_Missense_Mutation_p.R197K|CAST_uc010jbj.2_Missense_Mutation_p.R197K|CAST_uc010jbk.2_Missense_Mutation_p.R197K|CAST_uc010jbl.1_Missense_Mutation_p.R205K|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.R205K|CAST_uc003kmk.2_5'Flank NM_001042443 NP_001035908 P20810 ICAL_HUMAN calpastatin isoform i 482 Inhibitory domain 3. calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(3)|ovary(1)|kidney(1) 5 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) CCTGATTATAGATTAGAAGAG 0.348 NaN 0 0 0 0.047766 0 7 30 PCDHB1 29930 broad.mit.edu 37 5 140431442 140431442 + Silent SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:140431442T>C uc003lik.1 + 1 464 c.387T>C c.(385-387)AAT>AAC p.N129N NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 129 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAATGACAATGCCCCAGTTT 0.542 NaN 0 0 0 0.09319 0 11 15 PCDHGA10 56106 broad.mit.edu 37 5 140794089 140794089 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:140794089C>T uc003lkl.1 + 1 1347 c.1347C>T c.(1345-1347)ATC>ATT p.I449I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.I449I NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 449 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCAGATATCAATGACAACC 0.498 NaN 0 0 0 0.163468 0 27 113 PCDHGB7 56099 broad.mit.edu 37 5 140798381 140798381 + Missense_Mutation SNP A A T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:140798381A>T uc003lkn.1 + 1 1100 c.955A>T c.(955-957)ATA>TTA p.I319L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.I319L|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 319 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACGATAAACATAGAAGCAAA 0.398 NaN 0 0 0 0.02938 0 7 1 PCDH1 5097 broad.mit.edu 37 5 141233836 141233836 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:141233836C>T uc003llp.2 - 5 3602 c.3485G>A c.(3484-3486)GGA>GAA p.G1162E NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTCCTGCCCTCCTCGGTCCTG 0.677 NaN 0 0 0 0.02938 0 6 12 PCDH1 5097 broad.mit.edu 37 5 141244913 141244913 + Missense_Mutation SNP C C T rs149443924 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:141244913C>T uc003llq.2 - 3 1100 c.983G>A c.(982-984)CGT>CAT p.R328H PCDH1_uc003llp.2_Missense_Mutation_p.R328H|PCDH1_uc011dbf.1_Missense_Mutation_p.R306H NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 328 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TCGAAGAAGACGCCTCACAAC 0.537 NaN 0 0 0 0.139131 0 44 44 GPR151 134391 broad.mit.edu 37 5 145894746 145894746 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:145894746C>T uc003lod.1 - 1 931 c.931G>A c.(931-933)GAA>AAA p.E311K NM_194251 NP_919227 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 311 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGAACTCTTCCGACATCACA 0.478 NaN 0 0 0 0.02938 0 7 8 SLU7 10569 broad.mit.edu 37 5 159831861 159831861 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:159831861C>T uc003lyg.2 - 14 1574 c.1419G>A c.(1417-1419)GAG>GAA p.E473E NM_006425 NP_006416 O95391 SLU7_HUMAN step II splicing factor SLU7 473 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding ovary(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCCAGTTATCTCATTTATAA 0.348 NaN 0 0 0 0.11911 0 11 11 MRS2 57380 broad.mit.edu 37 6 24416692 24416692 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:24416692G>C uc003neb.2 + 7 909 c.787G>C c.(787-789)GAG>CAG p.E263Q MRS2_uc003nea.2_Missense_Mutation_p.E263Q|MRS2_uc011djl.1_Missense_Mutation_p.E266Q|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.E213Q|MRS2_uc003nec.2_Missense_Mutation_p.E140Q NM_020662 NP_065713 Q9HD23 MRS2_HUMAN MRS2-like, magnesium homeostasis factor 263 Mitochondrial matrix (Potential). ion transport integral to membrane|mitochondrial inner membrane 0 GGATGAGGAAGAGTTGCTAGA 0.294 NaN 0 0 0 0.139131 0 41 7 SLC26A8 116369 broad.mit.edu 37 6 35928812 35928812 + Nonsense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:35928812G>C uc003olm.2 - 13 1637 c.1526C>G c.(1525-1527)TCA>TGA p.S509* SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Nonsense_Mutation_p.S91*|SLC26A8_uc003oln.2_Nonsense_Mutation_p.S509*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.S404* NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 509 Helical; (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 AGAAACTACTGAGATAATTAG 0.413 NaN 0 0 0 0.038147 0 6 20 CRIP3 401262 broad.mit.edu 37 6 43273792 43273792 + Missense_Mutation SNP T T C rs139840752 by1000genomes TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:43273792T>C uc010jyn.1 - 7 566 c.566A>G c.(565-567)CAT>CGT p.H189R CRIP3_uc003ouu.1_Intron NM_206922 NP_996805 Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 189 cytoplasm zinc ion binding skin(1) 1 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GTGTCTGGGATGGGGCTGCCC 0.557 NaN 0 0 0 0.139131 0 119 27 CLIC5 53405 broad.mit.edu 37 6 45922939 45922939 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:45922939G>A uc003oxv.3 - 2 689 c.583C>T c.(583-585)CAG>TAG p.Q195* CLIC5_uc003oxu.3_Nonsense_Mutation_p.Q36*|CLIC5_uc003oxx.2_Nonsense_Mutation_p.Q36* NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 isoform a 195 Helical; Note=After insertion into the membrane; (Potential). female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity ovary(1)|skin(1) 2 AAGAGGCGCTGAGAGAAAGGA 0.478 NaN 0 0 0 0.189662 0 15 11 KCNQ5 56479 broad.mit.edu 37 6 73843246 73843246 + Silent SNP C C T rs139916334 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:73843246C>T uc003pgk.2 + 10 1697 c.1350C>T c.(1348-1350)ACC>ACT p.T450T KCNQ5_uc011dyh.1_Silent_p.T469T|KCNQ5_uc011dyi.1_Silent_p.T460T|KCNQ5_uc010kat.2_Silent_p.T441T|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Silent_p.T200T NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 450 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CCCCAAGCACCGACATCACAG 0.587 NaN 0 0 0 0.139131 0 47 56 MANEA 79694 broad.mit.edu 37 6 96054015 96054015 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:96054015A>G uc003poo.1 + 5 1263 c.1123A>G c.(1123-1125)AAC>GAC p.N375D NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 375 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) AAACACTCGGAACCGAATCAA 0.413 NaN 0 0 0 0.139131 0 47 39 NUS1 116150 broad.mit.edu 37 6 118028140 118028140 + Missense_Mutation SNP C C T rs150953098 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:118028140C>T uc003pxw.2 + 5 1061 c.844C>T c.(844-846)CGT>TGT p.R282C NM_138459 NP_612468 Q96E22 NGBR_HUMAN nuclear undecaprenyl pyrophosphate synthase 1 282 Cytoplasmic (Potential). angiogenesis|cell differentiation integral to membrane receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups central_nervous_system(1) 1 all_cancers(87;0.0395)|all_epithelial(87;0.0301) GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146) CTCTGCCCTTCGTCAATATGC 0.433 NaN 0 0 0 0.108266 0 20 28 PTPRK 5796 broad.mit.edu 37 6 128312003 128312003 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:128312003C>G uc003qbk.2 - 21 3371 c.3004G>C c.(3004-3006)GAT>CAT p.D1002H PTPRK_uc003qbj.2_Missense_Mutation_p.D1003H|PTPRK_uc010kfc.2_Missense_Mutation_p.D1009H|PTPRK_uc011ebu.1_Missense_Mutation_p.D1025H NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1002 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACTTCAGTATCATCAGGCCAA 0.348 NaN 0 0 0 0.146539 0 12 47 SYNE1 23345 broad.mit.edu 37 6 152462392 152462392 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:152462392C>G uc010kiw.2 - 139 25794 c.25192G>C c.(25192-25194)GAG>CAG p.E8398Q SYNE1_uc010kiv.2_Missense_Mutation_p.E2922Q|SYNE1_uc003qos.3_Missense_Mutation_p.E2922Q|SYNE1_uc003qot.3_Missense_Mutation_p.E8350Q|SYNE1_uc003qou.3_Missense_Mutation_p.E8398Q|SYNE1_uc003qop.3_Missense_Mutation_p.E583Q|SYNE1_uc011eez.1_Missense_Mutation_p.E600Q|SYNE1_uc003qoq.3_Missense_Mutation_p.E600Q|SYNE1_uc003qor.3_Missense_Mutation_p.E1321Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8398 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGCTCTCCTCTTCCTCCTTC 0.488 NaN HNSCC(10;0.0054) 0 0 0 0.139131 0 58 16 SYNE1 23345 broad.mit.edu 37 6 152690184 152690184 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:152690184G>C uc010kiw.2 - 61 10332 c.9730C>G c.(9730-9732)CAA>GAA p.Q3244E SYNE1_uc003qot.3_Missense_Mutation_p.Q3251E|SYNE1_uc003qou.3_Missense_Mutation_p.Q3244E|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.Q322E NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3244 Spectrin 6.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGGCAGCTTGTCCTTCCCAC 0.498 NaN HNSCC(10;0.0054) 0 0 0 0.058154 0 9 34 INTS1 26173 broad.mit.edu 37 7 1523488 1523488 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:1523488G>A uc003skn.2 - 26 3532 c.3431C>T c.(3430-3432)TCG>TTG p.S1144L INTS1_uc003skp.1_Missense_Mutation_p.S491L NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1144 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTGAGACTCCGACTGTGGGAA 0.647 NaN 0 0 0 0.189662 0 17 78 SDK1 221935 broad.mit.edu 37 7 3998602 3998602 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:3998602C>T uc003smx.2 + 8 1329 c.1190C>T c.(1189-1191)TCA>TTA p.S397L NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 397 Ig-like C2-type 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGTCGGATTTCAGCTGAAGTA 0.468 NaN 0 0 0 0.069288 0 17 71 C7orf26 79034 broad.mit.edu 37 7 6629998 6629998 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:6629998C>T uc003sqo.1 + 1 84 c.84C>T c.(82-84)TTC>TTT p.F28F uc011jwy.1_5'Flank|C7orf26_uc003sqp.1_Silent_p.F28F|C7orf26_uc003sqq.1_5'UTR NM_024067 NP_076972 Q96N11 CG026_HUMAN hypothetical protein LOC79034 28 ovary(1) 1 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) ACATCTACTTCAGCAGCCAGC 0.622 NaN 0 0 0 0.175082 0 15 25 C1GALT1 56913 broad.mit.edu 37 7 7278084 7278084 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:7278084G>C uc010ktn.2 + 3 642 c.419G>C c.(418-420)AGA>ACA p.R140T C1GALT1_uc003sra.2_Missense_Mutation_p.R140T|C1GALT1_uc010kto.1_Missense_Mutation_p.R140T NM_020156 NP_064541 Q9NS00 C1GLT_HUMAN core 1 synthase, 140 Lumenal (Potential). angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) AAAGAAGGCAGAGATCAACTA 0.373 NaN 0 0 0 0.080935 0 8 26 DFNA5 1687 broad.mit.edu 37 7 24749946 24749946 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:24749946G>C uc010kus.1 - 6 847 c.759C>G c.(757-759)GTC>GTG p.V253V DFNA5_uc003swz.2_Silent_p.V89V|DFNA5_uc003sxa.1_Silent_p.V253V|DFNA5_uc010kut.1_Silent_p.V89V NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 253 sensory perception of sound ovary(1) 1 GGTCCAGGTAGACAGAGTCAA 0.473 NaN 0 0 0 0.146539 0 14 61 URGCP 55665 broad.mit.edu 37 7 43916935 43916935 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:43916935G>C uc003tiw.2 - 6 2184 c.2127C>G c.(2125-2127)CTC>CTG p.L709L URGCP_uc003tiu.2_Silent_p.L666L|URGCP_uc003tiv.2_Silent_p.L634L|URGCP_uc003tix.2_Silent_p.L700L|URGCP_uc003tiy.2_Silent_p.L666L|URGCP_uc003tiz.2_Silent_p.L666L|URGCP_uc011kbj.1_Silent_p.L666L NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 709 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 ACATGGTGTTGAGGAGTGTGG 0.627 NaN 0 0 0 0.203993 0 31 123 C7orf57 136288 broad.mit.edu 37 7 48080989 48080989 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:48080989G>A uc003toh.3 + 3 326 c.114G>A c.(112-114)GCG>GCA p.A38A C7orf57_uc003toi.3_5'UTR NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 38 ovary(1) 1 CCCCACCAGCGTCCCAGATCC 0.537 NaN 0 0 0 0.139131 0 36 49 C7orf42 55069 broad.mit.edu 37 7 66418353 66418353 + Silent SNP G G A rs149604295 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:66418353G>A uc003tvk.2 + 6 1185 c.921G>A c.(919-921)GAG>GAA p.E307E C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Silent_p.E307E NM_017994 NP_060464 Q9NWD8 CG042_HUMAN hypothetical protein LOC55069 307 integral to membrane ovary(1) 1 TTTGTCCCGAGAAGGTGAGCG 0.453 NaN 0 0 0 0.124865 0 35 180 HIP1 3092 broad.mit.edu 37 7 75190679 75190679 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:75190679C>G uc003uds.1 - 13 1186 c.1145G>C c.(1144-1146)AGA>ACA p.R382T HIP1_uc011kfz.1_Missense_Mutation_p.R259T NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 382 Potential. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 ACTGATCTCTCTGTATAGTCG 0.443 NaN T PDGFRB CMML 0 0 0 0.139131 0 46 85 DTX2 113878 broad.mit.edu 37 7 76112191 76112191 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:76112191G>T uc003uff.3 + 5 1191 c.635G>T c.(634-636)GGC>GTC p.G212V DTX2_uc011kgk.1_Missense_Mutation_p.G121V|DTX2_uc003ufg.3_Missense_Mutation_p.G212V|DTX2_uc003ufh.3_Missense_Mutation_p.G212V|DTX2_uc003ufj.3_Missense_Mutation_p.G212V NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 212 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 CCCGTGTCAGGCCGCTACCGC 0.662 NaN 1 0 1.00246e-47 0.139131 1.07454e-47 45 444 FZD1 8321 broad.mit.edu 37 7 90895017 90895017 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:90895017C>T uc003ula.2 + 1 1235 c.822C>T c.(820-822)TTC>TTT p.F274F NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 274 Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) GAGGCAAGTTCTCCTGCCCGC 0.692 NaN 0 0 0 0.080935 0 11 8 COPS6 10980 broad.mit.edu 37 7 99686983 99686983 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:99686983C>G uc003usu.2 + 2 178 c.147C>G c.(145-147)CTC>CTG p.L49L COPS6_uc011kjf.1_Silent_p.L49L NM_006833 NP_006824 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 49 MPN. cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TTGTCATTCTCAACATCTCAG 0.592 NaN 0 0 0 0.139131 0 134 175 SRRT 51593 broad.mit.edu 37 7 100483362 100483362 + Nonsense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:100483362C>G uc003uwy.2 + 12 1626 c.1358C>G c.(1357-1359)TCA>TGA p.S453* SRRT_uc010lhl.1_Nonsense_Mutation_p.S452*|SRRT_uc003uxa.2_Nonsense_Mutation_p.S452*|SRRT_uc003uwz.2_Nonsense_Mutation_p.S453* NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 453 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 GTGGCGCTCTCAGAGCCCCAG 0.537 NaN 0 0 0 0.02938 0 5 21 LRRC4 64101 broad.mit.edu 37 7 127670203 127670203 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:127670203G>C uc003vmk.2 - 2 628 c.491C>G c.(490-492)TCT>TGT p.S164C SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 164 LRR 4.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) GAAGGCGTAAGAGGGGATGCT 0.572 NaN 0 0 0 0.214465 0 30 135 CLCN1 1180 broad.mit.edu 37 7 143039166 143039166 + Missense_Mutation SNP C C G rs143825889 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:143039166C>G uc003wcr.1 + 15 1814 c.1727C>G c.(1726-1728)TCT>TGT p.S576C CLCN1_uc011ktc.1_Missense_Mutation_p.S188C NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 576 Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) CTGCAGCCCTCTCTCTATGAC 0.527 NaN 0 0 0 0.09836 0 36 47 OR2F1 26211 broad.mit.edu 37 7 143657918 143657918 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:143657918G>A uc003wds.1 + 1 899 c.855G>A c.(853-855)CTG>CTA p.L285L NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) CACCAATGCTGAACCCCATGA 0.453 NaN 0 0 0 0.153744 0 26 46 ZNF425 155054 broad.mit.edu 37 7 148800826 148800826 + Silent SNP G G A rs142180575 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:148800826G>A uc003wfj.2 - 4 2210 c.2137C>T c.(2137-2139)CTG>TTG p.L713L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 713 C2H2-type 18. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGAAGGCACAGATGGGCCTTC 0.552 NaN 0 0 0 0.062417 0 19 27 ZNF425 155054 broad.mit.edu 37 7 148801778 148801778 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:148801778G>A uc003wfj.2 - 4 1258 c.1185C>T c.(1183-1185)TTC>TTT p.F395F NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 395 C2H2-type 7. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TCTTGTAGATGAATTTCCTGC 0.532 NaN 0 0 0 0.139131 0 55 92 CTSB 1508 broad.mit.edu 37 8 11708405 11708405 + Missense_Mutation SNP G G C rs144771892 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:11708405G>C uc003wum.2 - 6 621 c.297C>G c.(295-297)ATC>ATG p.I99M CTSB_uc003wul.2_5'Flank|CTSB_uc011kxl.1_Intron|CTSB_uc003wun.2_Missense_Mutation_p.I99M|CTSB_uc003wuo.2_Missense_Mutation_p.I99M|CTSB_uc003wup.2_Missense_Mutation_p.I99M|CTSB_uc003wuq.2_Missense_Mutation_p.I99M|CTSB_uc010lsc.2_Nonsense_Mutation_p.S15*|CTSB_uc003wur.2_Missense_Mutation_p.I99M|CTSB_uc003wus.1_Missense_Mutation_p.I99M|CTSB_uc003wut.1_Missense_Mutation_p.I99M|CTSB_uc003wuu.2_5'Flank NM_147780 NP_680090 P07858 CATB_HUMAN cathepsin B preproprotein 99 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity 0 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CCTGGTCTCTGATCTCTTTGA 0.572 NaN 0 0 0 0.132662 0 10 14 TNFRSF10A 8797 broad.mit.edu 37 8 23082521 23082521 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:23082521C>G uc003xda.2 - 1 119 c.54G>C c.(52-54)CCG>CCC p.P18P uc003xdb.1_5'Flank NM_003844 NP_003835 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, 18 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding central_nervous_system(3)|ovary(2)|skin(1) 6 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCCCGGGATTCGGAGTCACTG 0.632 NaN 0 0 0 0.062417 0 14 16 ANK1 286 broad.mit.edu 37 8 41583422 41583422 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:41583422C>T uc003xok.2 - 6 553 c.469G>A c.(469-471)GAG>AAG p.E157K NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E157K|ANK1_uc003xoj.2_Missense_Mutation_p.E157K|ANK1_uc003xol.2_Missense_Mutation_p.E157K|ANK1_uc003xom.2_Missense_Mutation_p.E190K NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 157 ANK 4.|89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACGACGTTCTCATGGCCCTGC 0.662 NaN 0 0 0 0.183431 0 26 18 PI15 51050 broad.mit.edu 37 8 75737599 75737599 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:75737599G>A uc003yal.2 + 2 294 c.115G>A c.(115-117)GAT>AAT p.D39N uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.D39N NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 39 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TAATTTCACTGATATTGAAGC 0.488 NaN 0 0 0 0.139131 0 50 50 STMN2 11075 broad.mit.edu 37 8 80549051 80549051 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:80549051A>G uc003ybj.2 + 2 85 c.34A>G c.(34-36)ATG>GTG p.M12V STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Missense_Mutation_p.M12V NM_007029 NP_008960 Q93045 STMN2_HUMAN superiorcervical ganglia, neural specific 10 12 Membrane attachment (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding ovary(1)|central_nervous_system(1) 2 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) CAAGGAAAAAATGAAGGAGCT 0.358 NaN 0 0 0 0.132662 0 11 33 KCNV1 27012 broad.mit.edu 37 8 110984713 110984713 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:110984713C>T uc003ynr.3 - 2 1107 c.765G>A c.(763-765)GGG>GGA p.G255G KCNV1_uc010mcw.2_Silent_p.G255G NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 255 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GGACAAACTCCCCGGTGAACC 0.522 NaN 0 0 0 0.160694 0 15 67 SNTB1 6641 broad.mit.edu 37 8 121644785 121644785 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:121644785C>A uc010mdg.2 - 3 1121 c.895G>T c.(895-897)GAC>TAC p.D299Y SNTB1_uc003ype.2_Missense_Mutation_p.D299Y NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 299 muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) GTCAGCAGGTCATTAACGTTG 0.537 NaN 1 0 3.73988e-18 0.116897 3.96984e-18 24 67 C8orf76 84933 broad.mit.edu 37 8 124238796 124238796 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:124238796C>T uc003yqc.1 - 5 923 c.892G>A c.(892-894)GAA>AAA p.E298K C8orf76_uc003yqd.2_Missense_Mutation_p.E266K NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 298 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) ATTTTATCTTCAATTTCCTGC 0.418 NaN 0 0 0 0.021553 0 4 26 FLJ43860 389690 broad.mit.edu 37 8 142490016 142490016 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:142490016C>G uc003ywi.2 - 8 1050 c.969G>C c.(967-969)CAG>CAC p.Q323H FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 323 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TCACCTCCCTCTGCTTGGGCC 0.592 NaN 0 0 0 0.11911 0 12 48 GRINA 2907 broad.mit.edu 37 8 145066426 145066426 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:145066426C>T uc003zan.1 + 5 873 c.707C>T c.(706-708)GCC>GTC p.A236V GRINA_uc003zao.1_Missense_Mutation_p.A236V|GRINA_uc003zap.1_Missense_Mutation_p.A236V NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl 236 Helical; (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTCCTGACCGCCAGCCTGTCG 0.627 NaN 0 0 0 0.055883 0 16 112 HSF1 3297 broad.mit.edu 37 8 145535421 145535421 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:145535421C>T uc003zbt.3 + 8 929 c.759C>T c.(757-759)TAC>TAT p.Y253Y HSF1_uc003zbu.3_RNA NM_005526 NP_005517 Q00613 HSF1_HUMAN heat shock transcription factor 1 253 Regulatory domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CCAGCCTCTACGCCCCTGATG 0.672 NaN 0 0 0 0.193644 0 26 83 DOCK8 81704 broad.mit.edu 37 9 339064 339064 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:339064C>T uc003zgf.2 + 13 1593 c.1481C>T c.(1480-1482)TCA>TTA p.S494L DOCK8_uc011lls.1_Missense_Mutation_p.S494L|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.S426L|DOCK8_uc003zgg.2_Missense_Mutation_p.S426L|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 494 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TACAAAAGATCATCATCCTTA 0.398 NaN 0 0 0 0.150653 0 3 11 IFNA4 3441 broad.mit.edu 37 9 21187385 21187385 + Missense_Mutation SNP T T G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:21187385T>G uc003zon.2 - 1 214 c.146A>C c.(145-147)CAT>CCT p.H49P NM_021068 NP_066546 P05014 IFNA4_HUMAN interferon, alpha 4 precursor 49 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GCAGGAGAAATGAGAGATTCT 0.517 NaN 0 0 0 0.086207 0 30 55 OR13F1 138805 broad.mit.edu 37 9 107267429 107267429 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:107267429G>C uc011lvm.1 + 1 886 c.886G>C c.(886-888)GAG>CAG p.E296Q NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 ACGGAACAAAGAGGTGAAAGT 0.373 NaN 0 0 0 0.076483 0 20 4 NUP188 23511 broad.mit.edu 37 9 131745215 131745215 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:131745215C>T uc004bws.1 + 17 1726 c.1704C>T c.(1702-1704)ATC>ATT p.I568I NUP188_uc004bwu.2_5'Flank NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 568 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TCAAACCCATCATTGATCTCG 0.502 NaN 0 0 0 0.139131 0 40 52 GPR107 57720 broad.mit.edu 37 9 132889830 132889830 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:132889830G>A uc004bze.2 + 18 1796 c.1569G>A c.(1567-1569)TGG>TGA p.W523* GPR107_uc004bzb.2_Nonsense_Mutation_p.W286*|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Nonsense_Mutation_p.W494*|GPR107_uc004bzd.2_Nonsense_Mutation_p.W475*|GPR107_uc004bzg.1_5'Flank NM_001136557 NP_001130029 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 isoform 1 523 integral to membrane upper_aerodigestive_tract(1) 1 Ovarian(14;0.000531) CATTCCAGTGGAAGTGGCTCT 0.418 NaN 0 0 0 0.153744 0 25 12 ZNF645 158506 broad.mit.edu 37 X 22291896 22291896 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chrX:22291896G>A uc004dai.1 + 1 837 c.788G>A c.(787-789)TGT>TAT p.C263Y NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 263 Pro-rich. intracellular zinc ion binding lung(1)|pancreas(1) 2 TATCCTGAGTGTCAAAGTCAA 0.413 NaN 0 0 0 0.139131 0 55 70 KDM6A 7403 broad.mit.edu 37 X 44949017 44949017 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chrX:44949017G>A uc004dge.3 + 25 3953 c.3578G>A c.(3577-3579)TGG>TAG p.W1193* KDM6A_uc011mkz.1_Nonsense_Mutation_p.W1245*|KDM6A_uc011mla.1_Nonsense_Mutation_p.W1148*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.W1200*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.W897*|KDM6A_uc011mld.1_Nonsense_Mutation_p.W832* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1193 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 ATGGGTTCTTGGTGGCCCAAT 0.353 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.069234 0 9 1 HUWE1 10075 broad.mit.edu 37 X 53620499 53620499 + Nonsense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chrX:53620499G>C uc004dsp.2 - 32 3968 c.3566C>G c.(3565-3567)TCA>TGA p.S1189* HUWE1_uc004dsn.2_Nonsense_Mutation_p.S14* NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1189 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 AGGCAAGTCTGAGTGTTCCAA 0.453 NaN 0 0 0 0.189662 0 18 25 SNX27 81609 broad.mit.edu 37 1 151584734 151584735 + In_Frame_Ins INS - - GGC TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:151584734_151584735insGGC uc001eyn.1 + 1 73_74 c.57_58insGGC c.(55-60)insGGC p.25_26insG NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 25_26 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGAAcggaggtggcggcggcgg 0.441 NaN NaN NaN NaN NaN NaN 10 20 --- --- BTG2 7832 broad.mit.edu 37 1 203276381 203276382 + Frame_Shift_Del DEL AG AG - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 AG - AG AG Valid Somatic Phase_I WXS RNASeq Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:203276381_203276382delAG uc001gzq.2 + 2 363_364 c.292_293delAG c.(292-294)AGCfs p.S98fs FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA NM_006763 NP_006754 P78543 BTG2_HUMAN B-cell translocation gene 2 98 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(1)|kidney(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.203) GCTGCTGCCCAGCGAGCTGACC 0.644 NaN NaN NaN NaN NaN NaN 34 93 --- --- PPFIA1 8500 broad.mit.edu 37 11 70194407 70194407 + Frame_Shift_Del DEL C C - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:70194407delC uc001opo.2 + 16 2242 c.2044delC c.(2044-2046)CCCfs p.P682fs PPFIA1_uc001opn.1_Frame_Shift_Del_p.P682fs|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 682 cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GAGCTCCATTCCCCCCTACCC 0.557 NaN NaN NaN NaN NaN NaN 8 2895 --- --- SLFN12L 342615 broad.mit.edu 37 17 33806620 33806620 + Frame_Shift_Del DEL A A - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:33806620delA uc002hjn.2 - 3 1575 c.696delT c.(694-696)TTTfs p.F232fs NM_001145027 NP_001138499 schlafen family member 12-like ovary(1) 1 CTGTTCTGTTAAAAAAATCAG 0.368 NaN NaN NaN NaN NaN NaN 2 4 --- --- LPPR2 64748 broad.mit.edu 37 19 11473280 11473288 + In_Frame_Del DEL GCGTGGTCC GCGTGGTCC - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:11473280_11473288delGCGTGGTCC uc002mre.1 + 7 1092_1100 c.755_763delGCGTGGTCC c.(754-765)GGCGTGGTCCGC>GGC p.VVR253del LPPR2_uc002mrf.1_In_Frame_Del_p.VVR228del|LPPR2_uc010dxy.1_In_Frame_Del_p.VVR60del NM_022737 NP_073574 Q96GM1 LPPR2_HUMAN lipid phosphate phosphatase-related protein type 253_255 Helical; (Potential). integral to membrane phosphatidate phosphatase activity large_intestine(1) 1 TTCCTGGTGGGCGTGGTCCGCGTGGCCGA 0.651 NaN NaN NaN NaN NaN NaN 22 137 --- --- LILRB1 10859 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:55146148_55146150delCTC uc002qgj.2 + 11 1757_1759 c.1417_1419delCTC c.(1417-1419)CTCdel p.L479del LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.2_In_Frame_Del_p.L479del|LILRB1_uc002qgk.2_In_Frame_Del_p.L480del|LILRB1_uc002qgm.2_In_Frame_Del_p.L480del|LILRB1_uc010erq.2_In_Frame_Del_p.L463del|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 479 Helical; (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.L479del(1) large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.458 NaN HNSCC(37;0.09) NaN NaN NaN NaN NaN 9 80 --- --- FOXC1 2296 broad.mit.edu 37 6 1611802 1611803 + In_Frame_Ins INS - - GGC rs71807729 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:1611802_1611803insGGC uc003mtp.2 + 1 1122_1123 c.1122_1123insGGC c.(1120-1125)insGGC p.380_381insG NM_001453 NP_001444 Q12948 FOXC1_HUMAN forkhead box C1 380_381 Poly-Gly. anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) cgggcagctcgggcggcggcgg 0.49 NaN NaN NaN NaN NaN NaN 4 5 --- ---