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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut IRF2BP1 26145 broad.mit.edu 37 19 46388153 46388153 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:46388153G>A ENST00000302165.3 - 1 1223 c.880C>T c.(880-882)Cgc>Tgc p.R294C NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) AACATCTGGCGAGCCACTGCC 0.592000 5 167 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80788321 80788321 + Silent SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr17:80788321C>T ENST00000269394.3 - 3 2702 c.1869G>A c.(1867-1869)gcG>gcA p.A623A TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.A224A NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 623 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGCTGTCCACCGCGCATGCGT 0.711000 17 58 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71344825 71344825 + Silent SNP C C G rs150319493 byFrequency TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr17:71344825C>G ENST00000392650.3 - 44 6078 c.6078G>C c.(6076-6078)tcG>tcC p.S2026S SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.S2007S NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2026 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CATCCTCATCCGAGTAGTGCA 0.642000 4 56 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173506126 173506126 + Missense_Mutation SNP C C A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:173506126C>A ENST00000367714.3 - 14 2032 c.1610G>T c.(1609-1611)cGg>cTg p.R537L SLC9C2_ENST00000536496.1_Missense_Mutation_p.R435L|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 537 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AATTAATATCCGGGCTGCCTC 0.308000 24 132 6.32553e-13 7.18211e-13 1 1 0 PRLR 5618 broad.mit.edu 37 5 35084594 35084594 + Silent SNP A A C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr5:35084594A>C ENST00000382002.5 - 5 777 c.351T>G c.(349-351)ctT>ctG p.L117L PRLR_ENST00000231423.3_Silent_p.L117L|PRLR_ENST00000348262.3_Silent_p.L117L|PRLR_ENST00000310101.5_Silent_p.L117L|PRLR_ENST00000397391.3_Silent_p.L46L|PRLR_ENST00000513753.1_Silent_p.L117L|PRLR_ENST00000542609.1_Silent_p.L117L|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000509934.1_5'UTR NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 117 Fibronectin type-III 1. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CGTCCACATAAAGTTCATCCG 0.453000 4 190 0 0 1 0 0 C5orf38 153571 broad.mit.edu 37 5 2752842 2752842 + Missense_Mutation SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr5:2752842G>T ENST00000515640.1 + 2 326 c.307G>T c.(307-309)Gcg>Tcg p.A103S C5orf38_ENST00000505778.1_Missense_Mutation_p.A103S|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000334000.3_Missense_Mutation_p.A103S|C5orf38_ENST00000397835.4_Missense_Mutation_p.A103S|IRX2_ENST00000502957.1_5'UTR Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 103 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GCTCAGGTTGGCGCCGCCGGT 0.637000 58 63 1.64591e-14 1.88847e-14 1 1 0 SLC5A8 160728 broad.mit.edu 37 12 101561910 101561910 + Silent SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr12:101561910G>A ENST00000536262.2 - 11 1842 c.1284C>T c.(1282-1284)ttC>ttT p.F428F NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 428 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGCCCAAAGCGAACAGGCCCA 0.398000 4 16 0 0 1 0 0 ZNF174 7727 broad.mit.edu 37 16 3452156 3452156 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:3452156G>A ENST00000268655.4 + 1 737 c.152G>A c.(151-153)cGc>cAc p.R51H ZNF174_ENST00000575752.1_Missense_Mutation_p.R51H|ZNF174_ENST00000571936.1_Missense_Mutation_p.R51H|ZNF174_ENST00000344823.5_Missense_Mutation_p.R51H|ZNF174_ENST00000572544.1_Missense_Mutation_p.R51H|LA16c-306E5.2_ENST00000575785.1_RNA NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 51 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 AGCTTCAGACGCTTTTGTTAT 0.547000 8 388 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59485535 59485535 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr17:59485535G>A ENST00000240328.3 + 7 2088 c.1807G>A c.(1807-1809)Gcc>Acc p.A603T RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 603 Ala-rich. cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 cgccgcagccgccgGCTCCCT 0.701000 5 59 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40411752 40411752 + Silent SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:40411752G>A ENST00000221347.6 - 7 3883 c.3876C>T c.(3874-3876)gcC>gcT p.A1292A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1292 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCTGCAGGACGGCAAACCGAT 0.632000 75 137 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7963214 7963214 + Missense_Mutation SNP T T C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr20:7963214T>C ENST00000246024.2 - 8 949 c.734A>G c.(733-735)gAg>gGg p.E245G NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 245 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 tttttcctcctcCGCATCCTG 0.423000 9 25 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15617 15617 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chrM:15617G>A ENST00000361789.2 + 1 871 c.871G>A c.(871-873)Gtc>Atc p.291_291insI mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 AACTAGGAGGCGTCCTTGCCC 0.468000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 4 170 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123435080 123435080 + Missense_Mutation SNP C C A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr12:123435080C>A ENST00000542678.1 - 3 3472 c.634G>T c.(634-636)Gcc>Tcc p.A212S ABCB9_ENST00000346530.5_Missense_Mutation_p.A212S|ABCB9_ENST00000442028.2_Missense_Mutation_p.A212S|ABCB9_ENST00000344275.7_Missense_Mutation_p.A212S|ABCB9_ENST00000540285.1_Missense_Mutation_p.A212S|ABCB9_ENST00000280560.8_Missense_Mutation_p.A212S|ABCB9_ENST00000392439.3_Missense_Mutation_p.A212S|ABCB9_ENST00000442833.2_Missense_Mutation_p.A212S Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 212 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding p.A212T(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CCATCAATGGCGCGGCCCGTG 0.632000 3 45 0.115264 0.117418 1 1 0 URGCP 55665 broad.mit.edu 37 7 43918018 43918018 + Missense_Mutation SNP A A C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr7:43918018A>C ENST00000336086.6 - 4 3151 c.915T>G c.(913-915)ttT>ttG p.F305L URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.F305L|URGCP_ENST00000402306.3_Missense_Mutation_p.F339L|URGCP_ENST00000447717.3_Missense_Mutation_p.F305L|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.F348L|URGCP_ENST00000223341.7_Missense_Mutation_p.F305L Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 348 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCAAGAGCTTAAACTGCAGCC 0.463000 48 65 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003445 122003445 + Missense_Mutation SNP A A C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr3:122003445A>C ENST00000498619.1 + 7 3112 c.2674A>C c.(2674-2676)Aag>Cag p.K892Q CASR_ENST00000296154.5_Missense_Mutation_p.K882Q|CASR_ENST00000490131.1_Missense_Mutation_p.K882Q NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 882 Interaction with RNF19A. anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCACGCTTTCAAGGTGGCTGC 0.622000 28 37 0 0 1 0 0 ZNF267 10308 broad.mit.edu 37 16 31927691 31927691 + Silent SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:31927691G>T ENST00000300870.10 + 4 2330 c.2121G>T c.(2119-2121)cgG>cgT p.R707R RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 707 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 CTACACATCGGAGAAGTCATA 0.438000 25 17 1.1804e-14 1.36876e-14 1 1 0 UBA1 7317 broad.mit.edu 37 X 47074220 47074220 + Silent SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chrX:47074220G>A ENST00000335972.6 + 26 3252 c.3069G>A c.(3067-3069)tcG>tcA p.S1023S UBA1_ENST00000377351.4_Silent_p.S1023S|UBA1_ENST00000377269.3_Silent_p.S471S NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 1023 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GCCGTGTGTCGAAGCGAAAGC 0.602000 7 215 0 0 1 0 0 ARSK 153642 broad.mit.edu 37 5 94891003 94891003 + Silent SNP G G C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr5:94891003G>C ENST00000380009.4 + 1 226 c.21G>C c.(19-21)tcG>tcC p.S7S ARSK_ENST00000504763.1_Silent_p.S7S NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 7 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TGTGGGTGTCGGTGGTCGCAG 0.692000 3 11 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652768 121652768 + Missense_Mutation SNP A A G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr7:121652768A>G ENST00000393386.2 + 12 4079 c.3668A>G c.(3667-3669)cAt>cGt p.H1223R PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1223 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACAATGTTGCATCTCATTGTA 0.398000 5 140 0 0 1 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202915580 202915580 + Nonsense_Mutation SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:202915580C>T ENST00000340990.5 - 4 715 c.417G>A c.(415-417)tgG>tgA p.W139* ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.W139*|ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.W139* NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 139 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) GCAGATGGGTCCAGATGTTGC 0.478000 34 145 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 4 81 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903359 4903359 + Missense_Mutation SNP T T C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr11:4903359T>C ENST00000380378.1 + 1 311 c.311T>C c.(310-312)aTt>aCt p.I104T MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.I77T NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTCTGACCATTACGACCCTT 0.443000 20 20 0 0 1 0 0 C16orf90 646174 broad.mit.edu 37 16 3543946 3543946 + Nonsense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:3543946G>A ENST00000437192.3 - 3 444 c.442C>T c.(442-444)Cag>Tag p.Q148* LA16c-306E5.3_ENST00000574423.2_RNA NM_001080524.1 NP_001073993.1 A8MZG2 CP090_HUMAN chromosome 16 open reading frame 90 138 large_intestine(1) 1 GGACTAGGCTGGGGGAGGGCA 0.627000 6 13 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518383 113518383 + Missense_Mutation SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr7:113518383C>T ENST00000284601.3 - 4 2832 c.2764G>A c.(2764-2766)Gaa>Aaa p.E922K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 922 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACTGAAATTTCAGTATGATGT 0.378000 41 71 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117240804 117240804 + Missense_Mutation SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr9:117240804G>T ENST00000374057.3 - 2 1514 c.866C>A c.(865-867)cCt>cAt p.P289H DFNB31_ENST00000362057.3_Intron|DFNB31_ENST00000265134.6_Intron Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 289 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTGTCTGAGAGGCTGGCCTCC 0.612000 16 2 4.14922e-12 4.61495e-12 1 1 0 KNTC1 9735 broad.mit.edu 37 12 123075167 123075167 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr12:123075167G>A ENST00000333479.7 + 41 4190 c.4013G>A c.(4012-4014)cGc>cAc p.R1338H KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1338 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTTAATTGTCGCTTGGTAGAT 0.368000 5 124 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138642950 138642950 + Missense_Mutation SNP T T G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chrX:138642950T>G ENST00000218099.2 + 7 781 c.774T>G c.(772-774)aaT>aaG p.N258K F9_ENST00000394090.2_Missense_Mutation_p.N220K NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 258 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) CTATCGTTAATGAAAAATGGA 0.353000 4 108 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526455 84526455 + Missense_Mutation SNP A A T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chrX:84526455A>T ENST00000360700.4 + 10 2931 c.2045A>T c.(2044-2046)aAg>aTg p.K682M ZNF711_ENST00000373165.3_Missense_Mutation_p.K636M|ZNF711_ENST00000276123.3_Missense_Mutation_p.K636M|ZNF711_ENST00000395402.1_Missense_Mutation_p.K644M|ZNF711_ENST00000542798.1_Missense_Mutation_p.K478M Q9Y462 ZN711_HUMAN zinc finger protein 711 636 RCK -> GCT (in Ref. 4; CAA39837). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GAGCTCAAAAAGCATAGTGAT 0.403000 7 45 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923248 158923248 + Silent SNP G G C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr6:158923248G>C ENST00000367097.3 + 13 3910 c.2553G>C c.(2551-2553)ccG>ccC p.P851P TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 851 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CAGCACCCCCGCCCCCTCTGC 0.657000 5 17 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59826213 59826213 + Missense_Mutation SNP C C A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr14:59826213C>A ENST00000395125.1 + 21 2677 c.2654C>A c.(2653-2655)gCg>gAg p.A885E DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.A875E|DAAM1_ENST00000351081.1_Missense_Mutation_p.A885E NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 885 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CCTCAAGCTGCGAAAGTAAAG 0.378000 6 13 3.59834e-05 3.92219e-05 1 1 0 NTRK1 4914 broad.mit.edu 37 1 156843598 156843598 + Missense_Mutation SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:156843598C>T ENST00000368196.3 + 8 1144 c.1024C>T c.(1024-1026)Cgg>Tgg p.R342W NTRK1_ENST00000524377.1_Missense_Mutation_p.R342W|NTRK1_ENST00000392302.2_Missense_Mutation_p.R312W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342W NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 342 Ig-like C2-type 2. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TGAGACCGTGCGGCACGGGTG 0.632000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 23 17 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201047049 201047049 + Missense_Mutation SNP A A G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:201047049A>G ENST00000362061.3 - 11 1803 c.1577T>C c.(1576-1578)gTg>gCg p.V526A CACNA1S_ENST00000367338.3_Missense_Mutation_p.V526A NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 526 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCAGCGGAGCACGGAGATGCC 0.627000 5 91 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30236701 30236701 + Missense_Mutation SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chrX:30236701C>T ENST00000378988.4 + 2 105 c.4C>T c.(4-6)Cct>Tct p.P2S NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 2 protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 AGCCATCATGCCTCGTGGTCA 0.527000 6 38 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 15 2.56e-06 2.81859e-06 1 1 0 PITPNM2 57605 broad.mit.edu 37 12 123494604 123494604 + Missense_Mutation SNP C C A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr12:123494604C>A ENST00000280562.5 - 5 641 c.436G>T c.(436-438)Gac>Tac p.D146Y PITPNM2_ENST00000546049.1_Missense_Mutation_p.D146Y|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D146Y|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D146Y Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 146 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GGCACAGGGTCTTTGACAATG 0.567000 62 54 7.92265e-33 9.48976e-33 1 1 0 ZNF280B 140883 broad.mit.edu 37 22 22842866 22842866 + Silent SNP A A G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr22:22842866A>G ENST00000360412.2 - 4 1633 c.858T>C c.(856-858)agT>agC p.S286S ZNF280B_ENST00000406426.1_Silent_p.S286S NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AGTAAAAGTCACTAAGTAACA 0.383000 4 81 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25258522 25258522 + Missense_Mutation SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr8:25258522G>T ENST00000276440.7 + 47 4910 c.4866G>T c.(4864-4866)ttG>ttT p.L1622F NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1622 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) ATGAGCGGTTGTCTTCTTGCT 0.483000 6 140 0.00116845 0.00124863 1 1 0 MT-ND1 4535 broad.mit.edu 37 MT 3745 3745 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chrM:3745G>A ENST00000361390.2 + 1 439 c.439G>A c.(439-441)Gcc>Acc p.147_147insT mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 AAGTCACCCTAGCCATCATTC 0.453000 19 163 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101295429 101295429 + Missense_Mutation SNP A A C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr12:101295429A>C ENST00000538618.1 + 4 364 c.364A>C c.(364-366)Agt>Cgt p.S122R ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000551148.1_3'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TCCAGGTTTAAGTTTATCTAT 0.488000 HNSCC(74;0.22) 6 47 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67400946 67400946 + Missense_Mutation SNP T T C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:67400946T>C ENST00000329956.6 + 8 800 c.781T>C c.(781-783)Tcc>Ccc p.S261P LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.S140P|LRRC36_ENST00000563189.1_Missense_Mutation_p.S140P|LRRC36_ENST00000290940.7_5'UTR NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 261 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) GCCTCGTCAGTCCACAGTCCG 0.433000 5 102 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 90931626 90931626 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr15:90931626G>A ENST00000268182.5 + 1 177 c.53G>A c.(52-54)gGc>gAc p.G18D IQGAP1_ENST00000560738.1_Missense_Mutation_p.G18D NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 18 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CCGCACTATGGCTGTGAGTGC 0.716000 4 9 0 0 1 0 0 INPP5F 22876 broad.mit.edu 37 10 121586918 121586918 + Missense_Mutation SNP T T A rs140846782 TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr10:121586918T>A ENST00000361976.2 + 20 3191 c.3025T>A c.(3025-3027)Tct>Act p.S1009T INPP5F_ENST00000369080.3_Missense_Mutation_p.S399T NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 1009 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) ACAGACACCTTCTCGGCCATC 0.453000 32 68 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36047934 36047934 + Missense_Mutation SNP C C G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:36047934C>G ENST00000262623.3 - 12 1778 c.1750G>C c.(1750-1752)Gta>Cta p.V584L NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 584 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 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) ATGGCCTCTACGTCGAAGGCA 0.592000 41 149 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197411423 197411423 + Splice_Site SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:197411423G>T ENST00000367400.3 + 11 4140 c.e11+1 RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000367397.1_3'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CGAGGTGGACGTAAGCAGCCT 0.478000 9 196 0.000274275 0.000296 1 1 0 TRPM6 140803 broad.mit.edu 37 9 77377523 77377523 + Missense_Mutation SNP G G C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr9:77377523G>C ENST00000451710.3 - 26 4301 c.4064C>G c.(4063-4065)cCt>cGt p.P1355R TRPM6_ENST00000449912.2_Missense_Mutation_p.P1350R|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1355R|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1355R|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1350R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1355 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGCTGAAAAAGGAACTCGCTT 0.478000 6 144 0 0 1 0 0 FCN3 8547 broad.mit.edu 37 1 27697155 27697155 + Missense_Mutation SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:27697155G>T ENST00000270879.4 - 7 595 c.590C>A c.(589-591)aCc>aAc p.T197N FCN3_ENST00000354982.2_Missense_Mutation_p.T186N NM_003665.2 NP_003656.2 O75636 FCN3_HUMAN ficolin (collagen/fibrinogen domain containing) 3 197 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 7 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GAGGCGGAAGGTCGCATAGTG 0.577000 5 120 0.0215528 0.0221627 1 1 0 CHIAP2 0 broad.mit.edu 37 1 111825692 111825692 + RNA SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:111825692C>T ENST00000369743.4 + 0 1237 NR_003928.1 GCATCTCCAACATCCAGTCTG 0.507000 7 14 0 0 1 0 0 ILKAP 80895 broad.mit.edu 37 2 239103471 239103471 + Silent SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr2:239103471G>A ENST00000254654.3 - 2 271 c.96C>T c.(94-96)ctC>ctT p.L32L ILKAP_ENST00000490837.1_5'UTR NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase 32 cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) TGGCCGGAGGGAGGTCATCAA 0.473000 13 39 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148895722 148895722 + Missense_Mutation SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr7:148895722G>T ENST00000262085.3 + 2 568 c.463G>T c.(463-465)Ggg>Tgg p.G155W ZNF282_ENST00000479907.1_Missense_Mutation_p.G155W NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 155 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) GGCCGTGCTGGGGACCCTGCT 0.647000 5 185 0.014758 0.0154675 1 1 0 RNF151 146310 broad.mit.edu 37 16 2018541 2018541 + Missense_Mutation SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:2018541G>T ENST00000569714.1 + 4 361 c.353G>T c.(352-354)tGc>tTc p.C118F RNF151_ENST00000321392.3_Missense_Mutation_p.C117F|RNF151_ENST00000569210.2_3'UTR NM_174903.4 NP_777563.2 Q2KHN1 RN151_HUMAN ring finger protein 151 118 cell differentiation|spermatogenesis cytoplasm|nucleus ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(1) 2 AACGAGGGCTGCACCTCGCAG 0.697000 3 19 0.004672 0.00494416 1 1 0 TANGO2 128989 broad.mit.edu 37 22 20024591 20024591 + Silent SNP A A G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr22:20024591A>G ENST00000456048.1 + 1 45 c.45A>G c.(43-45)gaA>gaG p.E15E TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000327374.4_Intron|TANGO2_ENST00000401833.1_Silent_p.E51E|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000447208.2_Intron|TANGO2_ENST00000434570.2_Silent_p.E51E|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000479679.1_Intron|TANGO2_ENST00000420290.2_Intron transport and golgi organization 2 homolog (Drosophila) AAAGACGTGAAGACTCAGCCA 0.602000 4 124 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79734554 79734554 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr5:79734554G>A ENST00000338008.5 + 3 2230 c.2050G>A c.(2050-2052)Gtt>Att p.V684I ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V684I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V684I NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 684 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) AGCAGATACCGTTGTTCCAAT 0.398000 11 77 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110081456 110081456 + Missense_Mutation SNP C C G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr6:110081456C>G ENST00000230124.3 + 11 1265 c.1141C>G c.(1141-1143)Cga>Gga p.R381G FIG4_ENST00000441478.2_Missense_Mutation_p.R104G NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 381 SAC. cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GATAAAGGAACGAGAGAAAAG 0.333000 11 44 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230415077 230415077 + Missense_Mutation SNP A A C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:230415077A>C ENST00000366672.4 + 16 1661 c.1589A>C c.(1588-1590)aAg>aCg p.K530T GALNT2_ENST00000543760.1_Missense_Mutation_p.K492T|GALNT2_ENST00000485438.1_3'UTR NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 530 Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GGCAACTCCAAGCTGAGGCAC 0.582000 33 40 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990202 990202 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr9:990202G>A ENST00000190165.2 + 2 654 c.616G>A c.(616-618)Gct>Act p.A206T NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 206 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.A206T(1)|p.A69T(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGGGGGATACGCTGTCCAGAA 0.597000 12 109 0 0 1 0 0 CTD-2049J23.2 0 broad.mit.edu 37 3 159818733 159818733 + RNA SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr3:159818733C>T ENST00000497452.1 - 0 517 TAGGAGGGAACGAAGTCACCG 0.507000 9 134 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178416032 178416032 + Missense_Mutation SNP T T C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr2:178416032T>C ENST00000408939.2 - 1 1710 c.1460A>G c.(1459-1461)aAg>aGg p.K487R NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 487 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) ATAATGCTTCTTGACTATGGG 0.383000 23 84 0 0 1 0 0 CTD-2207O23.3 0 broad.mit.edu 37 19 7516088 7516088 + Missense_Mutation SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:7516088C>T ENST00000593531.1 + 9 1100 c.1100C>T c.(1099-1101)tCc>tTc p.S367F ARHGEF18_ENST00000319670.9_Silent_p.L251L|ARHGEF18_ENST00000359920.6_Silent_p.L409L AGTGCATTCTCCTGGTTACAC 0.542000 16 14 0 0 1 0 0 SLC7A6 9057 broad.mit.edu 37 16 68308894 68308894 + Missense_Mutation SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:68308894C>T ENST00000566454.1 + 4 534 c.265C>T c.(265-267)Ctc>Ttc p.L89F SLC7A6_ENST00000219343.6_Missense_Mutation_p.L89F NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 89 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) CATTGGTGGGCTCTTCTCTGT 0.552000 4 97 0 0 1 0 0 RPL12P38 0 broad.mit.edu 37 17 58512711 58512711 + RNA SNP G G C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr17:58512711G>C ENST00000588627.1 - 0 646 AGCAGGTTTAGCAGACAACCT 0.522000 4 30 0 0 1 0 0 PCDHGA7 0 broad.mit.edu 37 5 140764737 140764737 + Silent SNP C C G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr5:140764737C>G ENST00000518325.1 + 1 2271 c.2271C>G c.(2269-2271)gtC>gtG p.V757V PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCATGAGGTCTCCCTCACCG 0.562000 90 33 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141736743 141736743 + Nonsense_Mutation SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr7:141736743C>T ENST00000475668.2 + 18 2251 c.2197C>T c.(2197-2199)Cga>Tga p.R733* MGAM_ENST00000549489.2_Nonsense_Mutation_p.R733* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 733 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGCTCACAGCCGAGGGGACAC 0.468000 53 193 0 0 1 0 0 FAM5B 0 broad.mit.edu 37 1 177247778 177247778 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:177247778G>A ENST00000361539.4 + 7 1404 c.1092G>A c.(1090-1092)atG>atA p.M364I FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 364 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TCTGGGCCATGGACACCAGCC 0.567000 15 579 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600313 29600313 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr13:29600313G>A ENST00000431530.3 + 1 1566 c.1508G>A c.(1507-1509)cGc>cAc p.R503H NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 493 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CAAAGTGGCCGCTCAGAAGCA 0.498000 21 11 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58489063 58489063 + Missense_Mutation SNP T T C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr20:58489063T>C ENST00000357552.3 - 12 1022 c.797A>G c.(796-798)aAc>aGc p.N266S SYCP2_ENST00000371001.2_Missense_Mutation_p.N266S Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 266 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATTTACAAGGTTGAGAAATAT 0.299000 4 17 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8609289 8609289 + Silent SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:8609289G>A ENST00000338257.8 - 14 1683 c.1416C>T c.(1414-1416)ggC>ggT p.G472G NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 472 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CTGCTCCCCCGCCCGTGGCGT 0.667000 13 19 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110467013 110467013 + Missense_Mutation SNP G G C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr8:110467013G>C ENST00000378402.5 + 45 6910 c.6806G>C c.(6805-6807)cGa>cCa p.R2269P NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2269 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGTCACCTGCGATCTCCTGAG 0.493000 HNSCC(38;0.096) 34 42 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 36 5 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 31 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21674488 21674488 + Silent SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chrX:21674488G>A ENST00000379499.2 - 1 1960 c.1419C>T c.(1417-1419)cgC>cgT p.R473R NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 473 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 ACACAACACCGCGGTCCCCGA 0.701000 13 7 0 0 1 0 0 SLC17A9 63910 broad.mit.edu 37 20 61588851 61588851 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr20:61588851G>A ENST00000370349.3 + 4 502 c.298G>A c.(298-300)Gtc>Atc p.V100I SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.V106I Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 106 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 CATCACGGCCGTCACCCCACT 0.632000 6 81 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195974349 195974349 + Silent SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr3:195974349C>T ENST00000292823.2 - 6 547 c.375G>A c.(373-375)acG>acA p.T125T PCYT1A_ENST00000419333.1_Silent_p.T125T|PCYT1A_ENST00000431016.1_Silent_p.T125T|PCYT1A_ENST00000491544.1_5'UTR NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 125 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259) Choline(DB00122) CGTTCATCACCGTGAAGCCTT 0.537000 30 106 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111694285 111694285 + Missense_Mutation SNP A A G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr6:111694285A>G ENST00000435970.1 - 15 5855 c.5039T>C c.(5038-5040)aTa>aCa p.I1680T REV3L_ENST00000368802.3_Missense_Mutation_p.I1758T|REV3L_ENST00000358835.3_Missense_Mutation_p.I1758T|REV3L_ENST00000368805.1_Missense_Mutation_p.I1758T O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1758 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AGAATCCATTATTGAGTTAGA 0.393000 DNA polymerases (catalytic subunits) 5 195 0 0 1 0 0 SSTR5 0 broad.mit.edu 37 16 1129080 1129080 + Missense_Mutation SNP T T C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:1129080T>C ENST00000293897.4 + 1 300 c.212T>C c.(211-213)aTg>aCg p.M71T SSTR5_ENST00000562758.1_Missense_Mutation_p.M71T|SSTR5_ENST00000397547.2_Missense_Mutation_p.M71T NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 71 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) TTCGCCAAGATGAAGACCGTC 0.647000 15 22 0 0 1 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2983818 2983818 + Missense_Mutation SNP A A C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:2983818A>C ENST00000399667.2 + 6 1714 c.1351A>C c.(1351-1353)Acc>Ccc p.T451P FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T451P|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 451 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 GGTGTATTGGACCTGCCGGGA 0.692000 4 12 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70360623 70360623 + Silent SNP A A G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chrX:70360623A>G ENST00000333646.6 + 42 6391 c.6192A>G c.(6190-6192)caA>caG p.Q2064Q MED12_ENST00000374080.3_Silent_p.Q2061Q|MED12_ENST00000374102.1_Silent_p.Q2060Q|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2061 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) agcaacagcaacagcagcagc 0.602000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 4 110 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1044627 1044627 + Missense_Mutation SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:1044627C>T ENST00000263094.6 + 11 1330 c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W ABCA7_ENST00000435683.2_Missense_Mutation_p.R229W|ABCA7_ENST00000433129.1_Missense_Mutation_p.R367W NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 367 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTGGAGGCCGGGACCACAT 0.657000 21 21 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56817131 56817131 + Missense_Mutation SNP G G C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr12:56817131G>C ENST00000229201.4 - 18 2370 c.2216C>G c.(2215-2217)gCc>gGc p.A739G TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A740G NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 740 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 AAAAAGTAGGGCTTCCATTTT 0.502000 28 82 0 0 1 0 0 NPY 4852 broad.mit.edu 37 7 24324969 24324969 + Missense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr7:24324969G>A ENST00000407573.1 + 3 400 c.110G>A c.(109-111)gGc>gAc p.G37D NPY_ENST00000405982.1_Missense_Mutation_p.G37D|NPY_ENST00000242152.2_Missense_Mutation_p.G37D P01303 NPY_HUMAN neuropeptide Y 37 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 GACAACCCGGGCGAGGACGCA 0.672000 16 28 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369191 20369191 + RNA SNP T T C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:20369191T>C ENST00000593655.1 - 0 199 GTGGGAAACATTGAAATCAAG 0.408000 25 40 0 0 1 0 0 ZFP90 146198 broad.mit.edu 37 16 68597568 68597568 + Missense_Mutation SNP A A G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:68597568A>G ENST00000570495.1 + 5 1170 c.878A>G c.(877-879)cAt>cGt p.H293R ZFP90_ENST00000563169.2_Missense_Mutation_p.H293R|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.H293R Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 293 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) GCCTTCAGGCATAGCTCATCT 0.488000 54 30 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77290771 77290771 + Silent SNP A A G TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr4:77290771A>G ENST00000388914.3 - 10 1307 c.1155T>C c.(1153-1155)gaT>gaC p.D385D NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 385 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TTTTGTGTAGATCAGCCTAAA 0.408000 4 60 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671542 49671542 + Silent SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:49671542G>T ENST00000252826.5 + 5 600 c.474G>T c.(472-474)ctG>ctT p.L158L TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.L158L NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 158 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CTGGGGGTCTGCACACGGGCA 0.607000 11 233 0.0167234 0.0173605 1 1 0 WHSC1L1 54904 broad.mit.edu 37 8 38178629 38178629 + Silent SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr8:38178629G>T ENST00000317025.8 - 8 2287 c.1770C>A c.(1768-1770)tcC>tcA p.S590S WHSC1L1_ENST00000527502.1_Silent_p.S590S|WHSC1L1_ENST00000316985.3_Silent_p.S590S|WHSC1L1_ENST00000433384.2_Silent_p.S590S NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 590 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CAACCTCAGTGGATTTCTCTG 0.358000 T NUP98 AML 22 37 1.10513e-12 1.24185e-12 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16946336 16946336 + RNA SNP G G A rs11586784 by1000genomes TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:16946336G>A ENST00000412962.1 - 0 1183 CAGGGCTCACGAACCTGCTGC 0.662000 4 30 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81123237 81123237 + Silent SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr4:81123237C>T ENST00000339711.4 + 10 1852 c.621C>T c.(619-621)ggC>ggT p.G207G PRDM8_ENST00000504452.1_Silent_p.G207G|PRDM8_ENST00000415738.2_Silent_p.G207G NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 207 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 gcggcggcggcggtggcaaag 0.657000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 88 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242062240 242062240 + Silent SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr2:242062240G>A ENST00000403638.3 - 12 3070 c.2979C>T c.(2977-2979)ggC>ggT p.G993G PASK_ENST00000539818.1_Silent_p.G777G|PASK_ENST00000405260.1_Silent_p.G993G|PASK_ENST00000544142.1_Silent_p.G807G|PASK_ENST00000234040.4_Silent_p.G993G|PASK_ENST00000358649.4_Silent_p.G993G NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 993 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GGGAGTACTCGCCCTCACAGG 0.587000 26 71 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22375867 22375867 + Silent SNP T T C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:22375867T>C ENST00000397121.2 - 2 398 c.81A>G c.(79-81)ggA>ggG p.G27G NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 27 KRAB. G -> E (in dbSNP:rs8104929). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AGGGCTCTTTTCCTTGCTCCA 0.403000 4 104 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126305176 126305176 + Silent SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr11:126305176G>A ENST00000525144.2 - 13 1824 c.1575C>T c.(1573-1575)gcC>gcT p.A525A KIRREL3_ENST00000416561.2_Intron|KIRREL3_ENST00000529097.2_Intron|KIRREL3_ENST00000525704.2_Silent_p.A525A NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 525 hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CTTCCAGCCCGGCTCCCGACT 0.607000 32 5 0 0 1 0 0 TPRN 286262 broad.mit.edu 37 9 140086700 140086700 + Missense_Mutation SNP C C T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr9:140086700C>T ENST00000321773.2 - 3 1900 c.1901G>A c.(1900-1902)gGg>gAg p.G634E TPRN_ENST00000409012.4_Intron Q4KMQ1 TPRN_HUMAN taperin 691 sensory perception of sound stereocilium breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 CTCCACTCCCCCGCATCTCAC 0.662000 53 57 0 0 1 0 0 C7orf50 84310 broad.mit.edu 37 7 1167007 1167007 + Missense_Mutation SNP C C A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr7:1167007C>A ENST00000397098.3 - 2 941 c.15G>T c.(13-15)aaG>aaT p.K5N C7orf50_ENST00000397100.2_Missense_Mutation_p.K5N|C7orf50_ENST00000357429.6_Missense_Mutation_p.K5N|C7orf50_ENST00000488073.1_5'UTR Q9BRJ6 CG050_HUMAN chromosome 7 open reading frame 50 5 protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1) 6 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) GAACTTTTCTCTTCTGTTTTG 0.443000 4 3 0.150653 0.152048 1 1 0 ROBO2 6092 broad.mit.edu 37 3 77595594 77595594 + Nonsense_Mutation SNP G G A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr3:77595594G>A ENST00000461745.1 + 7 1940 c.1040G>A c.(1039-1041)tGg>tAg p.W347* ROBO2_ENST00000332191.8_Nonsense_Mutation_p.W347*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.W363* NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 347 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GCTGTTTTTTGGCAGAAAGAA 0.478000 27 179 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916957 178916957 + Missense_Mutation SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr3:178916957G>T ENST00000263967.3 + 2 501 c.344G>T c.(343-345)cGa>cTa p.R115L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 115 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R115L(3) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATCCTCAATCGAGAAATTGGT 0.333000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 26 36 1.1804e-14 1.36876e-14 1 1 0 NPIPB5 100132247 broad.mit.edu 37 16 22546256 22546256 + Missense_Mutation SNP A A T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:22546256A>T ENST00000424340.1 + 7 2231 c.1952A>T c.(1951-1953)cAc>cTc p.H651L NPIPB5_ENST00000517539.1_Missense_Mutation_p.H651L|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 ATATCAAGACACCTGCCGAGC 0.577000 6 162 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36297437 36297437 + Missense_Mutation SNP C C A TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:36297437C>A ENST00000301175.3 - 8 1141 c.1124G>T c.(1123-1125)gGa>gTa p.G375V NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 375 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGCTTCACTCCGAAGGCCAG 0.622000 81 223 7.81431e-29 9.25826e-29 1 1 0 RP11-262H14.1 0 broad.mit.edu 37 9 66457330 66457330 + RNA SNP G G T TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr9:66457330G>T ENST00000424345.1 + 0 42 cagcgacagagccttggagag 0.632000 4 13 1 1 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 145014238 145014238 + Frame_Shift_Del DEL C C - TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr1:145014238delC ENST00000493130.2 - 4 465 c.304delG c.(304-306)aafs p.E102fs PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369348.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATCCTTGCTTCCCCCACCAGC 0.443 T PDGFRB MPD 2 4 --- --- --- --- RP11-481J13.1 0 broad.mit.edu 37 2 56259444 56259444 + RNA DEL T T - TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr2:56259444delT ENST00000606639.1 + 0 82 AC011306.2_ENST00000446139.1_lincRNA ggctgccatattatttgcatt 0.458 2 4 --- --- --- --- AC093639.1 0 broad.mit.edu 37 2 184781026 184781026 + RNA DEL C C - rs113400092 TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr2:184781026delC ENST00000441026.1 + 0 103 aggaggcctgcctgcctctgt 0.527 3 4 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195403822 195403822 + RNA DEL A A - TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr3:195403822delA ENST00000445430.1 + 0 1454 attccatctcaaaaaaaaaaa 0.483 2 4 --- --- --- --- RP11-153M7.3 0 broad.mit.edu 37 4 154587193 154587193 + RNA DEL C C - TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr4:154587193delC ENST00000602666.1 + 0 355 ttggcagcttccacatggtgt 0.517 2 4 --- --- --- --- CTD-2281E23.3 0 broad.mit.edu 37 8 1197216 1197217 + RNA INS - - G rs66848317 by1000genomes TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr8:1197216_1197217insG ENST00000517950.1 - 0 278 GAGATCAGTGTGGAGTGATGGT 0.584 2 4 --- --- --- --- RP11-531A24.5 0 broad.mit.edu 37 8 73965434 73965435 + RNA INS - - GTTTTGTTTTGTTTT rs141422515 by1000genomes TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr8:73965434_73965435insGTTTTGTTTTGTTTT ENST00000517664.1 + 0 1022_1023 tgttttttttggttttgttttg 0.436 2 4 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135946987 135946988 + Frame_Shift_Ins INS - - C TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr9:135946987_135946988insC ENST00000372080.4 + 11 2123_2124 c.2107_2108insC c.(2107-2109)cccfs p.P703fs CEL_ENST00000351304.7_Frame_Shift_Ins_p.P634fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 700 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) TGACTCCGGGGCCCCCCCCGTG 0.822 3 4 --- --- --- --- RP11-282I1.1 0 broad.mit.edu 37 10 125119044 125119044 + RNA DEL A A - TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr10:125119044delA ENST00000448347.1 + 0 95 cgtctctaccaaaaatacaaa 0.522 2 4 --- --- --- --- RP11-387D10.2 0 broad.mit.edu 37 15 91190540 91190541 + RNA INS - - TTA TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr15:91190540_91190541insTTA ENST00000559531.1 - 0 294 ccacaatcctcctccacacccc 0.629 2 4 --- --- --- --- RP11-19N8.2 0 broad.mit.edu 37 16 33037352 33037352 + RNA DEL T T - TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr16:33037352delT ENST00000567619.1 - 0 499 TAAATGACAATGAATTTTTTT 0.388 2 4 --- --- --- --- AC061992.2 0 broad.mit.edu 37 17 76332835 76332835 + RNA DEL T T - TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr17:76332835delT ENST00000586321.1 + 0 60 AAATAATAACttttttttttt 0.453 2 4 --- --- --- --- RP11-78F17.1 0 broad.mit.edu 37 18 983013 983014 + RNA INS - - C rs72094579 by1000genomes TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr18:983013_983014insC ENST00000580781.1 + 0 306 aaccatggccgccccccaccca 0.525 5 4 --- --- --- --- SEC1P 0 broad.mit.edu 37 19 49177697 49177697 + RNA DEL G G - rs147031859 TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr19:49177697delG ENST00000430145.2 + 0 368 NR_004401.2 GTGATGCGGAGGGGCATTTGT 0.612 3 3 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29589297 29589297 + RNA DEL C C - rs73620372 by1000genomes TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr20:29589297delC ENST00000432067.1 - 0 152 cttagcacttcttttgctgca 0.299 4 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11066244 11066249 + RNA DEL CAAAAA CAAAAA - rs4039879 TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chr21:11066244_11066249delCAAAAA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gactccatctcaaaaacaaaaacaaa 0.403 4 3 --- --- --- --- RP11-761E20.1 0 broad.mit.edu 37 X 115052547 115052547 + RNA DEL C C - rs60378274 TCGA-N9-A4PZ-01A-22D-A28R-08 TCGA-N9-A4PZ-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890d1036-212b-411e-8b07-36d70d5dd880 54e22e93-595e-4bde-8e35-edcb044c0479 g.chrX:115052547delC ENST00000430756.1 - 0 200 gctctcccttcccccagaaca 0.502 3 4 --- --- --- ---