Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KCNH1 3756 broad.mit.edu 37 1 211092987 211092987 + Missense_Mutation SNP A A G TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr1:211092987A>G uc001hib.2 - 7 1627 c.1457T>C c.(1456-1458)ATT>ACT p.I486T KCNH1_uc001hic.2_Missense_Mutation_p.I459T NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 486 Helical; Name=Segment S6; (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTTACAGCCAATCATCATGAT 0.493 NA 6 145 0 0 0.02938 0 0 KIAA0913 23053 broad.mit.edu 37 10 75550013 75550013 + Silent SNP C C T TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr10:75550013C>T uc009xrl.2 + 7 936 c.904C>T c.(904-906)CTG>TTG p.L302L KIAA0913_uc001jve.2_Silent_p.L302L|KIAA0913_uc001jvf.2_Silent_p.L302L|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 302 zinc ion binding breast(1) 1 Prostate(51;0.0112) CAAAAAGACACTGCACAAGTT 0.552 NA 8 104 0 0 0.038147 0 0 OR5I1 10798 broad.mit.edu 37 11 55703528 55703528 + Missense_Mutation SNP G G T TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr11:55703528G>T uc010ris.1 - 1 349 c.349C>A c.(349-351)CTG>ATG p.L117M NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATGGCGGCCAGGATGAAGGAT 0.443 NA 11 36 2.80697e-09 3.43075e-09 0.080935 1 0 FAT3 120114 broad.mit.edu 37 11 92616397 92616397 + Missense_Mutation SNP G G A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr11:92616397G>A uc001pdj.3 + 23 12792 c.12775G>A c.(12775-12777)GAG>AAG p.E4259K FAT3_uc001pdi.3_Missense_Mutation_p.E699K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4259 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCTGGGAGGCGAGCACCAGGA 0.682 NA TCGA Ovarian(4;0.039) 17 116 0 0 0.038395 0 0 Unknown 0 broad.mit.edu 37 12 92105 92105 + Missense_Mutation SNP G G A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr12:92105G>A uc010sdi.1 - 2 233 c.205C>T c.(205-207)CGC>TGC p.R69C uc010sdj.1_RNA SubName: Full=DEAD/H box polypeptide 11 like 11; NA AAGGAAGGGCGCAGCGCCAGG 0.592 NA 3 10 0 0 0.009096 0 0 METT11D1 64745 broad.mit.edu 37 14 21464765 21464765 + Missense_Mutation SNP G G A rs144273829 TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr14:21464765G>A uc001vyn.2 + 13 1357 c.1160G>A c.(1159-1161)CGT>CAT p.R387H METT11D1_uc001vym.2_Missense_Mutation_p.R387H|METT11D1_uc001vyo.2_Missense_Mutation_p.R387H|METT11D1_uc001vyp.2_Missense_Mutation_p.R229H|METT11D1_uc001vyq.2_Missense_Mutation_p.R229H|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform 387 translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) CGCTGGCCCCGTATCACTCAG 0.537 NA 8 48 0 0 0.047766 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413949 105413949 + Silent SNP G G A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr14:105413949G>A uc010axc.1 - 7 7959 c.7839C>T c.(7837-7839)AGC>AGT p.S2613S AHNAK2_uc001ypx.2_Silent_p.S2513S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2613 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCACCTCCATGCTGGACAGAG 0.632 NA 36 191 0 0 0.074837 0 0 RYR3 6263 broad.mit.edu 37 15 33765678 33765678 + Missense_Mutation SNP G G A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr15:33765678G>A uc001zhi.2 + 2 180 c.110G>A c.(109-111)TGC>TAC p.C37Y RYR3_uc010bar.2_Missense_Mutation_p.C37Y NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 37 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) AGGAAGTTCTGCCTGGCAGCC 0.547 NA 9 55 0 0 0.080935 0 0 LCMT1 51451 broad.mit.edu 37 16 25175976 25175976 + Silent SNP C C T TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr16:25175976C>T uc002dnx.1 + 7 785 c.627C>T c.(625-627)TCC>TCT p.S209S LCMT1_uc002dny.1_Silent_p.S154S|LCMT1_uc002dnz.1_Silent_p.S109S|LCMT1_uc002doa.1_Silent_p.S54S NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 isoform a 209 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity 0 GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) CAGAGCAGTCCGCAAACCTCC 0.428 Colon(200;565 2072 24396 47922 50898) NA 12 87 0 0 0.080935 0 0 TTN 7273 broad.mit.edu 37 2 179600640 179600640 + Missense_Mutation SNP C C T TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr2:179600640C>T uc010zfg.1 - 47 11025 c.10801G>A c.(10801-10803)GAC>AAC p.D3601N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D262N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4528 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) TTTTCTGCGTCGGAAATCCTC 0.438 NA 10 73 0 0 0.09319 0 0 LRRN4 164312 broad.mit.edu 37 20 6022727 6022727 + Silent SNP G G A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr20:6022727G>A uc002wmo.2 - 5 1388 c.1164C>T c.(1162-1164)ACC>ACT p.T388T NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 388 Extracellular (Potential). integral to membrane skin(3) 3 TGGGCGCGACGGTGGTACCCT 0.677 NA 7 39 0 0 0.058154 0 0 PAK7 57144 broad.mit.edu 37 20 9546621 9546621 + Silent SNP G G A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr20:9546621G>A uc002wnl.2 - 6 1946 c.1401C>T c.(1399-1401)ACC>ACT p.T467T PAK7_uc002wnk.2_Silent_p.T467T|PAK7_uc002wnj.2_Silent_p.T467T|PAK7_uc010gby.1_Silent_p.T467T NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 467 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) TGTGTTTCTCGGTGGCGATGC 0.522 NA 17 165 0 0 0.0333 0 0 ARPP21 10777 broad.mit.edu 37 3 35785377 35785377 + Missense_Mutation SNP C C T rs139862817 byFrequency TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr3:35785377C>T uc003cgb.2 + 18 2216 c.1952C>T c.(1951-1953)ACG>ATG p.T651M ARPP21_uc003cga.2_Missense_Mutation_p.T632M|ARPP21_uc011axy.1_Missense_Mutation_p.T652M|ARPP21_uc003cgf.2_Missense_Mutation_p.T487M|ARPP21_uc003cgg.2_Missense_Mutation_p.T174M|uc011axz.1_5'Flank|MIR128-2_hsa-mir-128-2|MI0000727_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 651 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 ACCTCAACCACGCAACAGTAC 0.478 NA 9 110 0 0 0.058154 0 0 EPHA3 2042 broad.mit.edu 37 3 89456471 89456471 + Silent SNP G G A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr3:89456471G>A uc003dqy.2 + 8 1872 c.1647G>A c.(1645-1647)GCG>GCA p.A549A EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 549 Helical; (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCATTTCAGCGGCAGTAGCAA 0.398 NA TSP Lung(6;0.00050) 3 51 0 0 0.004672 0 0 UNC5C 8633 broad.mit.edu 37 4 96163597 96163597 + Missense_Mutation SNP T T A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr4:96163597T>A uc003htp.1 - 7 1245 c.1091A>T c.(1090-1092)GAT>GTT p.D364V UNC5C_uc010ilc.1_Missense_Mutation_p.D364V|UNC5C_uc003htq.2_Missense_Mutation_p.D364V NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 364 Extracellular (Potential).|TSP type-1 2. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCAAAGCCCATCAGTGCAGTT 0.512 NA 6 36 0 0 0.021553 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579720 44579720 + Silent SNP G G A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr7:44579720G>A uc003tlb.2 - 2 332 c.276C>T c.(274-276)TCC>TCT p.S92S NPC1L1_uc003tlc.2_Silent_p.S92S|NPC1L1_uc011kbw.1_Silent_p.S92S|NPC1L1_uc003tld.2_Silent_p.S92S NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 92 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) GCTGCTTGGCGGAGCAGCAGG 0.602 NA 3 35 0 0 0.004672 0 0 REXO1L1 254958 broad.mit.edu 37 8 86573798 86573798 + Silent SNP T T G TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr8:86573798T>G uc011lfw.1 - 1 1471 c.1425A>C c.(1423-1425)GCA>GCC p.A475A NM_172239 NP_758439 Q8IX06 GOR_HUMAN exonuclease GOR 643 cytoplasm|nucleus exonuclease activity|nucleic acid binding 0 GGCAGGCGCTTGCGTCCTCGC 0.667 NA 3 67 0 0 0.009096 0 0 HCFC1 3054 broad.mit.edu 37 X 153228790 153228790 + Missense_Mutation SNP G G A TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chrX:153228790G>A uc004fjp.2 - 4 1126 c.598C>T c.(598-600)CGG>TGG p.R200W NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 200 R->D: Eliminates VIC formation. Unable to rescue proliferation in temperature- sensitive arrested cells. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGTGACTCCCGGGGTGGTGGT 0.552 NA 24 89 0 0 0.0918 0 0 F8 2157 broad.mit.edu 37 X 154088755 154088755 + Missense_Mutation SNP A A T TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chrX:154088755A>T uc004fmt.2 - 25 7023 c.6852T>A c.(6850-6852)AGT>AGA p.S2284R F8_uc004fms.2_Missense_Mutation_p.S149R NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 2284 F5/8 type C 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGCCATCTTGACTGCTGGAGA 0.393 NA 23 263 0 0 0.083992 0 0 PDZK1IP1 10158 broad.mit.edu 37 1 47649678 47649678 + Frame_Shift_Del DEL C C - TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr1:47649678delC uc001cqw.2 - 4 477 c.310delG c.(310-312)GAGfs p.E104fs NM_005764 NP_005755 Q13113 PDZ1I_HUMAN PDZK1 interacting protein 1 104 integral to membrane 0 CCTTCCTCCTCGGGCACATTC 0.572 NA 2 4 --- --- --- --- NA NA NA NA NA GDF7 151449 broad.mit.edu 37 2 20867303 20867303 + Frame_Shift_Del DEL A A - TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr2:20867303delA uc002rdz.1 + 1 880 c.304delA c.(304-306)AGGfs p.R102fs NM_182828 NP_878248 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 preproprotein 102 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGGCCGGGAGGGCTCCGGC 0.577 NA 2 4 --- --- --- --- NA NA NA NA NA KCNN2 3781 broad.mit.edu 37 5 113699634 113699634 + Frame_Shift_Del DEL T T - TCGA-75-6203-01A-11D-1753-08 TCGA-75-6203-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d9cd7f95-07d3-4b87-be83-87340b08d249 fdf9b270-14ff-4961-978e-5dff14d77feb g.chr5:113699634delT uc003kqo.2 + 2 975 c.518delT c.(517-519)CTTfs p.L173fs NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 173 Helical; Name=Segment S2; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGAAATGCCTTATCAGTCTC 0.483 NA 10 92 --- --- --- --- NA NA NA NA NA