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 AADACL4 343066 broad.mit.edu 37 1 12726726 12726726 + Missense_Mutation SNP A A T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:12726726A>T uc001auf.2 + 4 1204 c.1204A>T c.(1204-1206)AGT>TGT p.S402C NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 402 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TGCTGTAGTCAGTTATATAAA 0.438 NaN 0 0 0 0.021553 0 5 85 EIF4G3 8672 broad.mit.edu 37 1 21143902 21143902 + Missense_Mutation SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:21143902T>C uc001bec.2 - 29 4586 c.4330A>G c.(4330-4332)ATC>GTC p.I1444V EIF4G3_uc010odi.1_Missense_Mutation_p.I1048V|EIF4G3_uc010odj.1_Missense_Mutation_p.I1443V|EIF4G3_uc009vpz.2_Missense_Mutation_p.I1164V|EIF4G3_uc001bed.2_Missense_Mutation_p.I1444V|EIF4G3_uc001bef.2_Missense_Mutation_p.I1480V|EIF4G3_uc001bee.2_Missense_Mutation_p.I1450V NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1444 EIF4A-binding (By similarity).|W2. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CAGTCAAAGATCTGTTCATCA 0.428 NaN 0 0 0 0.139131 0 45 43 ZNF643 65243 broad.mit.edu 37 1 40928396 40928396 + Missense_Mutation SNP G G C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:40928396G>C uc001cfn.1 + 5 1037 c.740G>C c.(739-741)AGA>ACA p.R247T ZNF643_uc001cfl.1_Missense_Mutation_p.R145T|ZNF643_uc001cfm.1_Missense_Mutation_p.R113T NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN zinc finger protein 643 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) GGTCTTCCAAGAAAAAGAGAT 0.348 NaN 0 0 0 0.139131 0 53 57 SARS 6301 broad.mit.edu 37 1 109777922 109777922 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:109777922C>T uc001dwu.1 + 7 913 c.838C>T c.(838-840)CAC>TAC p.H280Y SARS_uc001dwt.1_Missense_Mutation_p.H280Y|SARS_uc001dwv.1_Missense_Mutation_p.H280Y|SARS_uc001dww.1_Missense_Mutation_p.H213Y|SARS_uc001dwx.1_Missense_Mutation_p.H232Y|SARS_uc009wfa.1_Missense_Mutation_p.H280Y|SARS_uc001dwy.1_Missense_Mutation_p.H105Y|SARS_uc001dwz.1_Missense_Mutation_p.H105Y NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 280 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TGCTGCCCTGCACCGGGATGA 0.587 NaN 0 0 0 0.139131 0 51 79 LCE3D 84648 broad.mit.edu 37 1 152552263 152552263 + Silent SNP G G A rs139649941 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:152552263G>A uc001fab.2 - 2 207 c.150C>T c.(148-150)GGC>GGT p.G50G NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 50 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GGAAGCAGCCGCCCTCGGAGC 0.672 NaN 0 0 0 0.047766 0 9 67 TMCC2 9911 broad.mit.edu 37 1 205210891 205210891 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:205210891C>T uc001hbz.1 + 3 910 c.466C>T c.(466-468)CGC>TGC p.R156C TMCC2_uc010prf.1_Missense_Mutation_p.R78C NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 156 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GCAGCAGATCCGCTCCCGGCC 0.507 NaN 0 0 0 0.058154 0 7 18 NLRP3 114548 broad.mit.edu 37 1 247607294 247607294 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:247607294C>T uc001icr.2 + 9 2828 c.2690C>T c.(2689-2691)ACG>ATG p.T897M NLRP3_uc001ics.2_Missense_Mutation_p.T840M|NLRP3_uc001icu.2_Missense_Mutation_p.T897M|NLRP3_uc001icw.2_Missense_Mutation_p.T840M|NLRP3_uc001icv.2_Missense_Mutation_p.T783M|NLRP3_uc010pyw.1_Missense_Mutation_p.T875M NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 897 LRR 6. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCTGGCCTTACGTCAGTCTGT 0.512 NaN 0 0 0 0.043863 0 19 30 ANUBL1 93550 broad.mit.edu 37 10 46121709 46121709 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr10:46121709G>A uc001jcp.3 - 7 1804 c.1562C>T c.(1561-1563)TCT>TTT p.S521F ANUBL1_uc001jcl.3_Missense_Mutation_p.S41F|ANUBL1_uc001jcm.3_Missense_Mutation_p.S521F|ANUBL1_uc009xmu.2_Missense_Mutation_p.S447F|ANUBL1_uc001jcn.3_Missense_Mutation_p.S447F|ANUBL1_uc001jco.3_Intron NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog 521 zinc ion binding 0 AGTAGTCCTAGAGAAAGAAGA 0.393 NaN 0 0 0 0.021553 0 5 69 OR6Q1 219952 broad.mit.edu 37 11 57798438 57798438 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr11:57798438C>T uc010rjz.1 + 1 14 c.14C>T c.(13-15)ACC>ATC p.T5I OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) CAACCATATACCAAAAACTGG 0.458 NaN 0 0 0 0.047766 0 8 205 WNK1 65125 broad.mit.edu 37 12 1017767 1017767 + Missense_Mutation SNP A A G rs144574284 by1000genomes TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:1017767A>G uc001qio.3 + 28 7465 c.6958A>G c.(6958-6960)ATG>GTG p.M2320V WNK1_uc001qip.3_Missense_Mutation_p.M2072V|WNK1_uc001qir.3_Missense_Mutation_p.M1493V NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2320 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CACCAAGTCTATGTGCCCCCC 0.592 NaN 0 0 0 0.139131 0 64 40 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:2062350C>G uc001qjx.1 - 7 836 c.756G>C c.(754-756)CAG>CAC p.Q252H DCP1B_uc010sdy.1_Missense_Mutation_p.Q150H NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.458 NaN 0 0 0 0.150653 0 3 70 GALNT8 26290 broad.mit.edu 37 12 4835915 4835915 + Silent SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:4835915C>G uc001qne.1 + 2 521 c.429C>G c.(427-429)CTC>CTG p.L143L NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 143 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 CCCAGGACCTCTTCCGGAAGT 0.557 NaN 0 0 0 0.139131 0 85 44 SLC2A13 114134 broad.mit.edu 37 12 40499377 40499377 + Silent SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:40499377G>A uc010skm.1 - 1 285 c.234C>T c.(232-234)CCC>CCT p.P78P SLC2A13_uc001rmf.2_Silent_p.P78P NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 78 Helical; Name=1; (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) ACACGAAGGCGGGGGTCTCGT 0.478 NaN HNSCC(50;0.14) 0 0 0 0.058154 0 6 7 GIT2 9815 broad.mit.edu 37 12 110391020 110391020 + Silent SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:110391020C>T uc001tps.2 - 13 1284 c.1119G>A c.(1117-1119)CTG>CTA p.L373L TCHP_uc001tpo.1_RNA|GIT2_uc001tpr.2_5'UTR|GIT2_uc001tpq.2_Silent_p.L373L|GIT2_uc001tpv.2_Silent_p.L375L|GIT2_uc001tpu.2_Silent_p.L373L|GIT2_uc001tpt.2_Silent_p.L373L|GIT2_uc010sxu.1_Silent_p.L311L|GIT2_uc001tpw.2_Silent_p.L373L|GIT2_uc010sxv.1_Silent_p.L373L NM_057169 NP_476510 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting 373 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding central_nervous_system(1) 1 TGATGGTTTTCAGTATGAGCT 0.413 NaN 0 0 0 0.139131 0 48 134 POU4F1 5457 broad.mit.edu 37 13 79175754 79175754 + Silent SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr13:79175754G>T uc001vkv.2 - 2 1290 c.1056C>A c.(1054-1056)GGC>GGA p.G352G uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 352 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TCTTCTCGCCGCCGTTGAAGA 0.652 NaN 1 0 0.000157383 0.038147 0.00016443 7 24 ZFYVE19 84936 broad.mit.edu 37 15 41105570 41105570 + Silent SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:41105570T>C uc001zmt.1 + 8 1579 c.1065T>C c.(1063-1065)GAT>GAC p.D355D ZFYVE19_uc001zmu.1_Silent_p.D287D|ZFYVE19_uc001zmv.1_Silent_p.D180D|ZFYVE19_uc001zmw.1_Silent_p.D180D|ZFYVE19_uc001zmx.1_Silent_p.D180D|ZFYVE19_uc010bcc.1_Silent_p.D180D NM_001077268 NP_001070736 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 355 Potential. zinc ion binding 0 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) CAGACAGTGATGACGACGAGG 0.587 NaN 0 0 0 0.09319 0 9 23 ANXA2 302 broad.mit.edu 37 15 60641322 60641322 + Missense_Mutation SNP C C A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:60641322C>A uc002agn.2 - 13 1072 c.912G>T c.(910-912)AGG>AGT p.R304S ANXA2_uc002agk.2_Missense_Mutation_p.R304S|ANXA2_uc002agl.2_Missense_Mutation_p.R304S|ANXA2_uc002agm.2_Missense_Mutation_p.R322S|ANXA2_uc010uhd.1_RNA NM_001136015 NP_001129487 P07355 ANXA2_HUMAN annexin A2 isoform 2 304 Annexin 4. angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity ovary(1) 1 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) TGAATTCAGACCTAATTTTCA 0.502 NaN 1 0 3.27435e-08 0.11911 3.4728e-08 14 57 C15orf39 56905 broad.mit.edu 37 15 75501097 75501097 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:75501097G>A uc002azp.3 + 2 3028 c.2708G>A c.(2707-2709)CGC>CAC p.R903H C15orf39_uc002azq.3_Missense_Mutation_p.R903H|C15orf39_uc002azr.3_Missense_Mutation_p.R301H NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 903 0 CTGGCGCTGCGCCAGCTGCCG 0.697 NaN 0 0 0 0.144211 0 22 19 ADAMTSL3 57188 broad.mit.edu 37 15 84651669 84651669 + Missense_Mutation SNP G G C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:84651669G>C uc002bjz.3 + 21 3513 c.3289G>C c.(3289-3291)GAT>CAT p.D1097H ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1097H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1097H NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1097 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCCCAGTTTGATGAGCTGAT 0.473 NaN 0 0 0 0.183431 0 31 64 PITPNC1 26207 broad.mit.edu 37 17 65671602 65671602 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr17:65671602G>A uc002jgc.2 + 8 973 c.626G>A c.(625-627)CGA>CAA p.R209Q PITPNC1_uc002jgb.2_Missense_Mutation_p.R209Q NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, 209 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding skin(1) 1 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) TAGGTGGTCCGAGACATTCTG 0.373 NaN 0 0 0 0.175082 0 15 96 DOT1L 84444 broad.mit.edu 37 19 2220125 2220125 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:2220125G>A uc002lvb.3 + 23 2746 c.2710G>A c.(2710-2712)GTG>ATG p.V904M DOT1L_uc002lvc.1_Missense_Mutation_p.V198M|DOT1L_uc002lve.1_Missense_Mutation_p.V198M NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 904 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) CCCCAGTCCCGTGCTGCAGCC 0.617 NaN 0 0 0 0.02938 0 5 75 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:9090831A>G uc002mkp.2 - 1 1188 c.984T>C c.(982-984)CCT>CCC p.P328P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 328 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCATGGAAAAAGGGATAGCTG 0.522 NaN 0 0 0 0.115264 0 3 86 CILP2 148113 broad.mit.edu 37 19 19655933 19655933 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:19655933G>A uc002nmv.3 + 8 2664 c.2579G>A c.(2578-2580)CGC>CAC p.R860H CILP2_uc002nmw.3_Missense_Mutation_p.R866H NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 860 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 AACGGCTTCCGCATCAACCTC 0.701 NaN 0 0 0 0.150653 0 4 76 ZNF737 100129842 broad.mit.edu 37 19 20728097 20728097 + Silent SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:20728097C>T uc002npa.2 - 4 1092 c.912G>A c.(910-912)AAG>AAA p.K304K NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 304 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TATGAATTATCTTATGCGCAG 0.408 NaN 0 0 0 0.153744 0 30 44 ZNF681 148213 broad.mit.edu 37 19 23927314 23927314 + Silent SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:23927314G>A uc002nrk.3 - 4 1180 c.1038C>T c.(1036-1038)GCC>GCT p.A346A ZNF681_uc002nrl.3_Silent_p.A277A|ZNF681_uc002nrj.3_Silent_p.A277A NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 346 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACTGGTTAAAGGCTTTGCCAC 0.433 NaN 0 0 0 0.047766 0 5 158 ATP4A 495 broad.mit.edu 37 19 36050775 36050775 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:36050775G>A uc002oal.1 - 7 1017 c.988C>T c.(988-990)CGG>TGG p.R330W ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 330 Lumenal (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ACCATGGCCCGCAGGAAGGTG 0.577 NaN 0 0 0 0.099896 0 27 27 CATSPERG 57828 broad.mit.edu 37 19 38847487 38847487 + Missense_Mutation SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:38847487T>C uc002oih.3 + 11 1388 c.1301T>C c.(1300-1302)GTC>GCC p.V434A CATSPERG_uc002oig.3_Intron|CATSPERG_uc002oif.3_Missense_Mutation_p.V74A|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 434 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 TTCCAGGTGGTCAGCTACAAC 0.527 NaN 0 0 0 0.139131 0 74 99 CYP2B6 1555 broad.mit.edu 37 19 41518645 41518645 + Missense_Mutation SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:41518645G>T uc002opr.1 + 8 1226 c.1219G>T c.(1219-1221)GCC>TCC p.A407S CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.A207S NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 407 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) AAAACCAGACGCCTTCAATCC 0.458 NaN 1 0 1.16149e-67 0.139131 1.33286e-67 109 101 KLK15 55554 broad.mit.edu 37 19 51330226 51330226 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:51330226C>T uc002ptl.2 - 3 420 c.389G>A c.(388-390)CGT>CAT p.R130H KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.R130H|KLK15_uc002pto.2_Missense_Mutation_p.R129H|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.R129H|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 130 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GTGGGGGCAACGCGTGGGTAG 0.706 NaN 0 0 0 0.173368 0 29 34 TTN 7273 broad.mit.edu 37 2 179394807 179394807 + Missense_Mutation SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:179394807C>G uc010zfg.1 - 308 98931 c.98707G>C c.(98707-98709)GAC>CAC p.D32903H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26598H|TTN_uc010zfi.1_Missense_Mutation_p.D26531H|TTN_uc010zfj.1_Missense_Mutation_p.D26406H|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33830 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) CCTCCCTTGTCTTCAGAGAGT 0.348 NaN 0 0 0 0.146539 0 13 26 TTN 7273 broad.mit.edu 37 2 179428319 179428319 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:179428319C>T uc010zfg.1 - 275 75060 c.74836G>A c.(74836-74838)GTT>ATT p.V24946I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18641I|TTN_uc010zfi.1_Missense_Mutation_p.V18574I|TTN_uc010zfj.1_Missense_Mutation_p.V18449I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25873 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) GTCCATCTAACGCCTTCCTTA 0.463 NaN 0 0 0 0.139131 0 59 65 C2orf66 401027 broad.mit.edu 37 2 197672317 197672317 + Silent SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:197672317C>T uc002utv.2 - 2 1093 c.204G>A c.(202-204)AAG>AAA p.K68K NM_213608 NP_998773 Q6UXQ4 CB066_HUMAN hypothetical protein LOC401027 precursor 68 extracellular region 0 GACCTCTGCCCTTAAAATATG 0.388 NaN 0 0 0 0.139131 0 41 74 ANKRD44 91526 broad.mit.edu 37 2 197975551 197975551 + Missense_Mutation SNP A A T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:197975551A>T uc002uuc.2 - 9 1091 c.924T>A c.(922-924)AGT>AGA p.S308R ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.S283R|ANKRD44_uc002uub.2_Missense_Mutation_p.S308R|ANKRD44_uc010zgw.1_Missense_Mutation_p.S236R NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 308 ANK 10. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTGCAGTGGACTTTTGCCAT 0.448 NaN 0 0 0 0.047766 0 8 166 ATG16L1 55054 broad.mit.edu 37 2 234183394 234183394 + Silent SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:234183394G>T uc002vty.2 + 9 1181 c.924G>T c.(922-924)GTG>GTT p.V308V ATG16L1_uc002vtx.1_Silent_p.V145V|ATG16L1_uc002vua.2_Silent_p.V289V|ATG16L1_uc002vub.2_Silent_p.V166V|ATG16L1_uc002vtz.2_Silent_p.V164V|ATG16L1_uc002vud.3_Silent_p.V224V|SCARNA5_uc002vue.1_5'Flank NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 308 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GTAAAGAAGTGAGGGTACCAG 0.473 NaN 1 0 2.35958e-20 0.11126 2.66405e-20 34 34 KRTAP27-1 643812 broad.mit.edu 37 21 31709534 31709534 + Silent SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr21:31709534G>A uc002ynx.1 - 1 479 c.453C>T c.(451-453)TTC>TTT p.F151F NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 151 intermediate filament p.F151S(1) ovary(2) 2 CCAGAGTTTCGAAATTTTTAG 0.493 NaN 0 0 0 0.139131 0 81 100 UMODL1 89766 broad.mit.edu 37 21 43519101 43519101 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr21:43519101C>T uc002zaf.1 + 7 997 c.997C>T c.(997-999)CGT>TGT p.R333C UMODL1_uc002zad.1_Missense_Mutation_p.R261C|UMODL1_uc002zae.1_Missense_Mutation_p.R261C|UMODL1_uc002zag.1_Missense_Mutation_p.R333C|UMODL1_uc010gow.1_Missense_Mutation_p.R125C|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.R78C NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 333 Extracellular (Potential).|Fibronectin type-III 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 AGTATCCTGGCGTTTAAATTC 0.522 NaN 0 0 0 0.014758 0 5 119 TRPM2 7226 broad.mit.edu 37 21 45784025 45784025 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr21:45784025C>T uc002zet.1 + 4 496 c.283C>T c.(283-285)CAT>TAT p.H95Y TRPM2_uc002zeu.1_Missense_Mutation_p.H95Y|TRPM2_uc002zew.1_Missense_Mutation_p.H95Y|TRPM2_uc010gpt.1_Missense_Mutation_p.H95Y NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 95 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGGCTACACGCATGAGCAGCA 0.423 NaN 0 0 0 0.083992 0 23 23 MASP1 5648 broad.mit.edu 37 3 186968087 186968087 + Missense_Mutation SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr3:186968087C>G uc003frh.1 - 8 1374 c.1042G>C c.(1042-1044)GAG>CAG p.E348Q MASP1_uc003fri.2_Missense_Mutation_p.E348Q|MASP1_uc003frj.2_Missense_Mutation_p.E317Q|MASP1_uc003frk.1_Missense_Mutation_p.E348Q|MASP1_uc011bse.1_Missense_Mutation_p.E322Q NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 348 Sushi 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TTCAGACACTCAATCTGGAAT 0.393 NaN 0 0 0 0.139131 0 79 136 WHSC2 7469 broad.mit.edu 37 4 1985711 1985711 + Missense_Mutation SNP G G A rs149343602 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:1985711G>A uc003gem.2 - 9 1439 c.1199C>T c.(1198-1200)GCG>GTG p.A400V WHSC2_uc003gek.2_Missense_Mutation_p.A126V|WHSC2_uc003gel.2_Missense_Mutation_p.A314V|WHSC2_uc003gen.2_Missense_Mutation_p.A254V NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 389 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) GGTGGGCGCCGCAGGCGTGGG 0.716 NaN 0 0 0 0.014758 0 3 34 ADH6 130 broad.mit.edu 37 4 100137347 100137347 + Missense_Mutation SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:100137347G>T uc003hup.3 - 2 185 c.91C>A c.(91-93)CCA>ACA p.P31T uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.P31T|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Missense_Mutation_p.P31T NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 31 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) GCCTTTGGTGGGGCCACTTCT 0.403 NaN 1 0 6.45866e-13 0.104719 7.06416e-13 32 45 F11 2160 broad.mit.edu 37 4 187209661 187209661 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:187209661G>A uc003iza.1 + 15 2104 c.1771G>A c.(1771-1773)GGC>AGC p.G591S uc003izb.1_RNA NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 591 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GCATCTGGTAGGCATCACGAG 0.552 NaN 0 0 0 0.139131 0 53 82 PSMB9 5698 broad.mit.edu 37 6 32825140 32825140 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr6:32825140G>A uc003sga.2 + 4 268 c.193G>A c.(193-195)GAC>AAC p.D65N PSMB9_uc011dqj.1_Intron NM_148954 NP_683756 P28065 PSB9_HUMAN proteasome beta 9 subunit isoform 2 proprotein 77 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity 0 AGCCGTGGCCGACATGGCCGC 0.602 NaN 0 0 0 0.014758 0 4 44 THEMIS 387357 broad.mit.edu 37 6 128040858 128040858 + Missense_Mutation SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr6:128040858G>T uc003qbi.2 - 6 2188 c.1869C>A c.(1867-1869)AGC>AGA p.S623R THEMIS_uc010kfa.2_Missense_Mutation_p.S526R|THEMIS_uc011ebt.1_Missense_Mutation_p.S662R|THEMIS_uc010kfb.2_Missense_Mutation_p.S588R NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 623 negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 CCCCACGGTTGCTCCTTTCTT 0.438 NaN 1 0 2.52991e-16 0.139131 2.81101e-16 40 47 C6orf192 116843 broad.mit.edu 37 6 133111328 133111328 + Silent SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr6:133111328T>C uc003qdw.1 - 3 419 c.267A>G c.(265-267)GTA>GTG p.V89V C6orf192_uc011eco.1_Missense_Mutation_p.I13V NM_052831 NP_439896 Q6NT16 CF192_HUMAN hypothetical protein LOC116843 89 Helical; (Potential). transmembrane transport integral to membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265) AGTTTCCAAATACCAAGGATG 0.313 NaN 0 0 0 0.014758 0 5 6 PCLO 27445 broad.mit.edu 37 7 82451883 82451883 + Missense_Mutation SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr7:82451883T>C uc003uhx.2 - 20 15008 c.14719A>G c.(14719-14721)ACC>GCC p.T4907A PCLO_uc003uhv.2_Missense_Mutation_p.T4907A|PCLO_uc003uht.1_Missense_Mutation_p.T349A|PCLO_uc003uhu.1_Missense_Mutation_p.T328A NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4769 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCCAGGTGGGTCTGAGTGACG 0.502 NaN 0 0 0 0.139131 0 77 165 TNFRSF10A 8797 broad.mit.edu 37 8 23056899 23056899 + Missense_Mutation SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:23056899C>G uc003xda.2 - 8 959 c.894G>C c.(892-894)GAG>GAC p.E298D NM_003844 NP_003835 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, 298 Cytoplasmic (Potential). 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) TGCTCAGAATCTCGTTGTGAG 0.562 NaN 0 0 0 0.139131 0 67 11 FAM110B 90362 broad.mit.edu 37 8 59059268 59059268 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:59059268C>T uc003xtj.1 + 5 1359 c.479C>T c.(478-480)GCG>GTG p.A160V NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 160 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CACTCCTTCGCGGAGTCCCTG 0.697 NaN 0 0 0 0.014758 0 5 18 PREX2 80243 broad.mit.edu 37 8 68950493 68950493 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:68950493G>A uc003xxv.1 + 7 832 c.805G>A c.(805-807)GAT>AAT p.D269N PREX2_uc003xxu.1_Missense_Mutation_p.D269N|PREX2_uc011lez.1_Missense_Mutation_p.D204N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 269 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TTTTCTTTTCGATAATCTTTT 0.398 NaN 0 0 0 0.083992 0 21 57 TMEM55A 55529 broad.mit.edu 37 8 92008912 92008912 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:92008912C>T uc003yes.2 - 6 826 c.600G>A c.(598-600)ATG>ATA p.M200I NM_018710 NP_061180 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 200 Helical; (Potential). integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(11;0.033) AAATACATATCATTCCAATGG 0.393 NaN 0 0 0 0.043863 0 14 36 PDP1 54704 broad.mit.edu 37 8 94934837 94934837 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:94934837C>T uc003yge.2 + 2 819 c.550C>T c.(550-552)CGG>TGG p.R184W PDP1_uc003ygf.2_Missense_Mutation_p.R209W|PDP1_uc010max.2_Missense_Mutation_p.R209W|PDP1_uc011lgm.1_Missense_Mutation_p.R184W|PDP1_uc011lgn.1_Missense_Mutation_p.R243W NM_018444 NP_060914 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic 184 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 GGAGAGCGGCCGGGCACTGCT 0.453 NaN 0 0 0 0.144211 0 29 49 PKHD1L1 93035 broad.mit.edu 37 8 110448690 110448690 + Splice_Site SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:110448690T>C uc003yne.2 + 30 3731 c.3627_splice c.e30+2 p.K1209_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACACCAAAAGTAAGGCCTCTG 0.393 NaN HNSCC(38;0.096) 0 0 0 0.134883 0 26 14 RANBP6 26953 broad.mit.edu 37 9 6012658 6012658 + Missense_Mutation SNP T T G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr9:6012658T>G uc003zjr.2 - 1 2961 c.2950A>C c.(2950-2952)ATA>CTA p.I984L RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 984 HEAT 7. protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTCCCTATTGCTGAGATA 0.363 NaN 0 0 0 0.021553 0 5 42 TLR7 51284 broad.mit.edu 37 X 12905875 12905875 + Nonsense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chrX:12905875C>T uc004cvc.2 + 3 2387 c.2248C>T c.(2248-2250)CGA>TGA p.R750* NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 750 Extracellular (Potential).|LRR 26. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) CTTCCAGTTGCGATATCTGGA 0.383 NaN 0 0 0 0.02938 0 7 53 CEP290 80184 broad.mit.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T rs77980773 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:88512304_88512305insT uc001tar.2 - 17 2010_2011 c.1666_1667insA c.(1666-1668)ATTfs p.I556fs CEP290_uc001tat.2_Frame_Shift_Ins_p.I318fs|CEP290_uc009zsl.1_RNA NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 556 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 CATTTGACGAATTTTTTTTTTC 0.312 NaN NaN NaN NaN NaN NaN 3 6 --- --- ANKFY1 51479 broad.mit.edu 37 17 4086731 4086732 + Frame_Shift_Ins INS - - GC TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr17:4086731_4086732insGC uc002fxq.1 - 14 1951_1952 c.1913_1914insGC c.(1912-1914)GCAfs p.A638fs ANKFY1_uc002fxn.2_Frame_Shift_Ins_p.A680fs|ANKFY1_uc002fxo.2_Frame_Shift_Ins_p.A638fs|ANKFY1_uc002fxp.2_Frame_Shift_Ins_p.A637fs|ANKFY1_uc010ckp.2_Frame_Shift_Ins_p.A579fs NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 638 ANK 9. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 GCAGGAAGAGTGCGCTCTTGCT 0.55 NaN NaN NaN NaN NaN NaN 60 104 --- --- CABLES1 91768 broad.mit.edu 37 18 20716015 20716023 + In_Frame_Del DEL GGCGCCGGC GGCGCCGGC - TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr18:20716015_20716023delGGCGCCGGC uc002kuc.2 + 1 289_297 c.289_297delGGCGCCGGC c.(289-297)GGCGCCGGCdel p.GAG97del CABLES1_uc002kub.2_Intron NM_001100619 NP_001094089 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 isoform 2 97_99 Ala-rich.|Interacts with TDRD7 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1) 1 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) ggccaagccgggcgccggcggcgcctgcg 0.593 NaN NaN NaN NaN NaN NaN 4 2 --- --- HPS4 89781 broad.mit.edu 37 22 26868322 26868322 + Frame_Shift_Del DEL G G - TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr22:26868322delG uc003acl.2 - 6 1106 c.447delC c.(445-447)AACfs p.N149fs HPS4_uc003aci.2_Frame_Shift_Del_p.N144fs|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Frame_Shift_Del_p.N149fs|HPS4_uc003ach.2_5'UTR NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 149 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 GATCACTGGTGTTTTTCAGAA 0.393 NaN Hermansky-Pudlak_syndrome NaN NaN NaN NaN NaN 68 104 --- --- SH3BP2 6452 broad.mit.edu 37 4 2831730 2831731 + Frame_Shift_Ins INS - - C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:2831730_2831731insC uc003gfi.3 + 8 1217_1218 c.1097_1098insC c.(1096-1098)GACfs p.D366fs SH3BP2_uc011bvp.1_Frame_Shift_Ins_p.D394fs|SH3BP2_uc003gfj.3_Frame_Shift_Ins_p.D423fs|SH3BP2_uc003gfk.3_Frame_Shift_Ins_p.D366fs|SH3BP2_uc003gfl.3_Frame_Shift_Ins_p.D299fs|SH3BP2_uc003gfm.3_Frame_Shift_Ins_p.D341fs NM_001122681 NP_001116153 P78314 3BP2_HUMAN SH3-domain binding protein 2 isoform a 366 signal transduction SH3 domain binding|SH3/SH2 adaptor activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) GCTGAAGAGGACCCCCCAAGGG 0.658 NaN Cherubism NaN NaN NaN NaN NaN 115 33 --- --- HMGB2 3148 broad.mit.edu 37 4 174253235 174253240 + In_Frame_Del DEL TCTTCA TCTTCA - TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:174253235_174253240delTCTTCA uc011ckc.1 - 4 741_746 c.621_626delTGAAGA c.(619-627)GATGAAGAA>GAA p.DE207del HMGB2_uc003ita.3_In_Frame_Del_p.DE207del|HMGB2_uc003itb.2_In_Frame_Del_p.DE207del|HMGB2_uc003itc.2_3'UTR NM_001130689 NP_001124161 P26583 HMGB2_HUMAN high-mobility group box 2 207_208 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding 0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) AGCCATTTAttcttcatcttcatcct 0.262 NaN NaN NaN NaN NaN NaN 59 112 --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs151038013 by1000genomes TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr5:113698631_113698632insGCC uc003kqo.2 + 1 616_617 c.159_160insGCC c.(157-162)insGCC p.58_59insA NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 58_59 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.658 NaN NaN NaN NaN NaN NaN 3 4 --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs35266724 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr9:139277995_139277997delGCT uc004chh.2 - 15 1633_1635 c.1624_1626delAGC c.(1624-1626)AGCdel p.S542del NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.473 NaN NaN NaN NaN NaN NaN 2 4 --- ---