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 OR10H2 26538 broad.mit.edu 37 19 15839173 15839173 + Missense_Mutation SNP T T C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr19:15839173T>C ENST00000305899.3 + 1 340 c.320T>C c.(319-321)tTc>tCc p.F107S NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TCCTTCAGCTTCGGCTTCACC 0.642000 22 22 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139395286 139395286 + Silent SNP C C T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr9:139395286C>T ENST00000277541.6 - 31 5727 c.5652G>A c.(5650-5652)ccG>ccA p.P1884P NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1884 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGATCATGAGCGGGGTGAAGC 0.692000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 8 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123810032 123810032 + Missense_Mutation SNP C C T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr10:123810032C>T ENST00000369005.1 + 3 453 c.113C>T c.(112-114)aCg>aTg p.T38M TACC2_ENST00000515603.1_Missense_Mutation_p.T38M|TACC2_ENST00000453444.2_Missense_Mutation_p.T38M|TACC2_ENST00000515273.1_Missense_Mutation_p.T38M|TACC2_ENST00000513429.1_Missense_Mutation_p.T38M|TACC2_ENST00000358010.1_Missense_Mutation_p.T38M|TACC2_ENST00000334433.3_Missense_Mutation_p.T38M NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 38 microtubule organizing center|nucleus nuclear hormone receptor binding p.T38M(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CAGCAGGACACGCCCGGAAGC 0.577000 6 36 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 28 58 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 4 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239326 5239326 + Silent SNP C C T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr5:5239326C>T ENST00000274181.7 + 15 2355 c.2217C>T c.(2215-2217)aaC>aaT p.N739N NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 739 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N739N(4) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GGGTGTGTAACGGGAATAACT 0.512000 88 102 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55144196 55144196 + Missense_Mutation SNP G G A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr19:55144196G>A ENST00000396331.1 + 7 1300 c.943G>A c.(943-945)Gac>Aac p.D315N LILRB1_ENST00000396317.1_Missense_Mutation_p.D315N|LILRB1_ENST00000427581.2_Missense_Mutation_p.D351N|LILRB1_ENST00000396327.3_Missense_Mutation_p.D315N|LILRB1_ENST00000396315.1_Missense_Mutation_p.D315N|LILRB1_ENST00000434867.2_Missense_Mutation_p.D315N|LILRB1_ENST00000396321.2_Missense_Mutation_p.D315N|LILRB1_ENST00000448689.1_Missense_Mutation_p.D315N|LILRB1_ENST00000396332.4_Missense_Mutation_p.D315N|LILRB1_ENST00000324602.7_Missense_Mutation_p.D315N|LILRB1_ENST00000418536.2_Missense_Mutation_p.D315N NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 315 Ig-like C2-type 4. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CGACCCCCTGGACATCCTGAT 0.677000 HNSCC(37;0.09) 4 60 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177928060 177928060 + Missense_Mutation SNP G G T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:177928060G>T ENST00000308284.6 - 9 1138 c.1049C>A c.(1048-1050)gCt>gAt p.A350D RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.A351D|RP4-798P15.3_ENST00000528461.1_3'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 350 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GCAGCTCTGAGCTGCTTTCTG 0.483000 3 29 1 1 1 1 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977377 29977377 + RNA SNP C C G TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr6:29977377C>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TTTGTGACTTCAAGAACCCTG 0.458000 3 66 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 234 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 43 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845995 18845995 + RNA SNP T T C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr22:18845995T>C ENST00000412938.1 + 0 3353 CATCCCGTCCTGCGCAGGCCG 0.592000 5 37 0 0 1 0 0 C1orf200 644997 broad.mit.edu 37 1 9713899 9713899 + Missense_Mutation SNP G G C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:9713899G>C ENST00000377320.3 - 2 591 c.442C>G c.(442-444)Cag>Gag p.Q148E PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron chromosome 1 open reading frame 200 endometrium(1)|large_intestine(2)|lung(5)|pancreas(1) 9 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) GCGGCTTCCTGGGCTTGGTCC 0.527000 8 67 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr19:12155757C>A ENST00000602107.1 - 5 599 c.600G>T c.(598-600)agG>agT p.R200S CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S C9JN71 ZN878_HUMAN zinc finger protein 878 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAACCTGAATGCTT 0.423000 4 158 0.00909568 0.00963072 1 1 0 GATAD2B 57459 broad.mit.edu 37 1 153784291 153784291 + Missense_Mutation SNP T T C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:153784291T>C ENST00000368655.4 - 10 1807 c.1564A>G c.(1564-1566)Ata>Gta p.I522V NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 522 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GATGTGGGTATGCCACGCTGG 0.517000 17 17 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128643275 128643275 + Missense_Mutation SNP G G A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr6:128643275G>A ENST00000368227.3 - 3 770 c.404C>T c.(403-405)gCc>gTc p.A135V PTPRK_ENST00000368207.3_Missense_Mutation_p.A135V|PTPRK_ENST00000368215.3_Missense_Mutation_p.A135V|PTPRK_ENST00000525459.1_Missense_Mutation_p.A135V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A135V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.A135V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A135V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A135V Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 135 MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AATTGGATTGGCAAGAGGTCC 0.433000 4 64 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 4 70 0 0 1 0 0 PRMT1 3276 broad.mit.edu 37 19 50189933 50189933 + Missense_Mutation SNP G G T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr19:50189933G>T ENST00000532489.1 + 10 1350 c.844G>T c.(844-846)Ggc>Tgc p.G282C PRMT1_ENST00000391851.4_Missense_Mutation_p.G310C|PRMT1_ENST00000454376.2_Missense_Mutation_p.G328C Q8WUW5 Q8WUW5_HUMAN protein arginine methyltransferase 1 309 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CGTGAAGACGGGCGAGGAGAT 0.682000 20 23 6.12954e-19 7.11817e-19 1 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 52 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 44 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61544839 61544839 + Missense_Mutation SNP T T A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr2:61544839T>A ENST00000398571.2 - 23 3308 c.3232A>T c.(3232-3234)Aac>Tac p.N1078Y NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1078 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CGAGCCAAGTTACAGAGATGC 0.398000 25 53 0 0 1 0 0 MRPL13 28998 broad.mit.edu 37 8 121432125 121432125 + Silent SNP T T G TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr8:121432125T>G ENST00000306185.3 - 5 651 c.360A>C c.(358-360)acA>acC p.T120T NM_014078.5 NP_054797.2 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 120 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 6 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTTCCATCATTGTTCTTCTGT 0.323000 11 23 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148868448 148868448 + Missense_Mutation SNP A A G TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr3:148868448A>G ENST00000296051.2 + 6 1366 c.1226A>G c.(1225-1227)tAc>tGc p.Y409C HPS3_ENST00000460120.1_Missense_Mutation_p.Y244C NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 409 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAGGACCCGTACATGGACACC 0.517000 Hermansky-Pudlak syndrome 24 28 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406664 105406664 + Missense_Mutation SNP G G C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr14:105406664G>C ENST00000333244.5 - 7 15243 c.15124C>G c.(15124-15126)Cag>Gag p.Q5042E AHNAK2_ENST00000557457.1_Missense_Mutation_p.Q40E NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5042 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACGTCTCTCTGTGGCAGGCTG 0.552000 36 54 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8550556 8550556 + Missense_Mutation SNP G G A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr19:8550556G>A ENST00000348943.3 + 15 1359 c.1127G>A c.(1126-1128)gGc>gAc p.G376D HNRNPM_ENST00000325495.4_Missense_Mutation_p.G415D NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 415 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 GGGGGTGCCGGCATGGAGCGC 0.672000 4 167 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095398 167095400 + In_Frame_Del DEL GAG GAG - TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:167095398_167095400delGAG ENST00000361200.2 + 6 1196_1198 c.1030_1032delGAG c.(1030-1032)del p.E348del DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del|DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del|DUSP27_ENST00000485151.1_3'UTR Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 348 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCTCATAGACGAGGAGGAGGAGG 0.655 2 4 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 7 79 --- --- --- --- ANKRD36C 400986 broad.mit.edu 37 2 96525717 96525718 + Frame_Shift_Ins INS - - T rs77057279 by1000genomes TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr2:96525717_96525718insT ENST00000456556.1 - 61 3871_3872 c.3787_3788insA c.(3787-3789)gaafs p.E1263fs ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E290fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E514fs ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 CTTATTTTTCAGTTTTCGAATT 0.282 2 4 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 7 112 --- --- --- --- TMEM45B 120224 broad.mit.edu 37 11 129728510 129728510 + Frame_Shift_Del DEL T T - TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr11:129728510delT ENST00000281441.3 + 6 846 c.758delT c.(757-759)atfs p.I253fs TMEM45B_ENST00000524567.1_Frame_Shift_Del_p.I253fs NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 253 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) GGAGAAATCATTGGAATTCAG 0.478 2 4 --- --- --- --- GDE1 51573 broad.mit.edu 37 16 19533268 19533268 + Frame_Shift_Del DEL G G - TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr16:19533268delG ENST00000353258.3 - 1 199 c.19delC c.(19-21)agfs p.Q7fs NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 7 glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 AGGCCGCCCTGGTCCTCCCAC 0.706 2 4 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17696337 17696350 + Frame_Shift_Del DEL ACGCCTAGAGAATT ACGCCTAGAGAATT - rs139160898 TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr17:17696337_17696350delACGCCTAGAGAATT ENST00000353383.1 + 3 544_557 c.75_88delACGCCTAGAGAATT c.(73-90)tcacfs p.SRLENY25fs RAI1_ENST00000261641.6_Frame_Shift_Del_p.SRLENY25fs NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 25 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) AGGAAACATCACGCCTAGAGAATTACAGGCAGCC 0.556 11 7 --- --- --- ---