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 KRTAP26-1 388818 broad.mit.edu 37 21 31691743 31691743 + Missense_Mutation SNP C C T rs146155445 TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr21:31691743C>T ENST00000360542.3 - 1 864 c.611G>A c.(610-612)cGt>cAt p.R204H NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 204 intermediate filament p.R204H(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GCAAGATGGACGACACGTGCT 0.488000 9 109 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96652046 96652046 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr6:96652046G>A ENST00000302103.5 + 3 1341 c.1015G>A c.(1015-1017)Gat>Aat p.D339N NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 339 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TTTGGCTTGCGATCATGTGAA 0.323000 7 71 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187518160 187518160 + Silent SNP C C G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr4:187518160C>G ENST00000441802.2 - 25 12743 c.12534G>C c.(12532-12534)ggG>ggC p.G4178G NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4178 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CTTCCGCCAACCCAATGTTCC 0.522000 HNSCC(5;0.00058) 13 93 0 0 1 0 0 DARS 1615 broad.mit.edu 37 2 136669047 136669047 + Missense_Mutation SNP T T C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr2:136669047T>C ENST00000264161.4 - 14 1462 c.1247A>G c.(1246-1248)tAc>tGc p.Y416C DARS_ENST00000537273.1_Missense_Mutation_p.Y316C NM_001349.2 NP_001340.2 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 416 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GAACATATCGTAAGAGTTGGA 0.373000 11 101 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 5 99 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41457657 41457657 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr21:41457657C>T ENST00000400454.1 - 23 4481 c.4004G>A c.(4003-4005)cGg>cAg p.R1335Q NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1335 Ig-like C2-type 10. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GATGCTCCTCCGCCCATCAAT 0.458000 8 63 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168189662 168189662 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr5:168189662C>T ENST00000519560.1 - 15 1911 c.1492G>A c.(1492-1494)Gag>Aag p.E498K SLIT3_ENST00000404867.3_Missense_Mutation_p.E498K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E498K NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 498 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGAAGCACTCGCTGCTGAAC 0.632000 25 144 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138739005 138739005 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr3:138739005G>A ENST00000329447.5 - 1 763 c.499C>T c.(499-501)Cgg>Tgg p.R167W MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 167 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAGTCCATCCGGAGCTCCGGG 0.647000 5 44 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31202080 31202080 + Missense_Mutation SNP A A G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr16:31202080A>G ENST00000254108.7 + 13 1415 c.1310A>G c.(1309-1311)aAc>aGc p.N437S FUS_ENST00000380244.3_Missense_Mutation_p.N436S|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.N438S NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 437 Arg/Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) GAGAATATGAACTTCTCTTGG 0.498000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 7 48 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131923334 131923334 + Missense_Mutation SNP G G T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr5:131923334G>T ENST00000378823.3 + 6 1238 c.420G>T c.(418-420)aaG>aaT p.K140N RAD50_ENST00000265335.6_Missense_Mutation_p.K279N|RAD50_ENST00000487596.1_3'UTR NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 279 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATAGCCGAAAGAAGCAAATGG 0.299000 Homologous recombination 11 64 0.010729 0.0111625 1 1 0 ACAP2 23527 broad.mit.edu 37 3 195015477 195015477 + Missense_Mutation SNP G G A rs139056381 byFrequency TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr3:195015477G>A ENST00000326793.6 - 18 1966 c.1736C>T c.(1735-1737)aCg>aTg p.T579M NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 579 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 GGCTGACACCGTGGAGGGTAA 0.363000 23 76 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77705020 77705020 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr17:77705020G>A ENST00000328313.5 + 1 340 c.119G>A c.(118-120)gGc>gAc p.G40D NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 40 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCCTTCGACGGCTTCCGCTGG 0.652000 4 24 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78919085 78919085 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr5:78919085G>A ENST00000453514.1 + 4 931 c.238G>A c.(238-240)Gat>Aat p.D80N PAPD4_ENST00000423041.2_Missense_Mutation_p.D80N|PAPD4_ENST00000296783.3_Missense_Mutation_p.D80N|PAPD4_ENST00000504233.1_Missense_Mutation_p.D80N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D80N NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 80 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity p.D80N(1) biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) GAGATTAAGCGATGAAAAAAA 0.343000 7 88 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34081902 34081902 + Silent SNP A A G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr18:34081902A>G ENST00000257209.4 + 4 467 c.345A>G c.(343-345)ctA>ctG p.L115L FHOD3_ENST00000445677.1_Silent_p.L115L|FHOD3_ENST00000590592.1_Silent_p.L115L|FHOD3_ENST00000359247.4_Silent_p.L115L NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 115 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CAGAAAAACTATACAACTCCA 0.323000 3 39 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140126191 140126191 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr9:140126191C>T ENST00000538474.1 + 2 261 c.37C>T c.(37-39)Ccc>Tcc p.P13S SLC34A3_ENST00000361134.2_Missense_Mutation_p.P13S NM_001177316.1|NM_001177317.1 NP_001170787.1|NP_001170788.1 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 13 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GGTCCCCCACCCCACTCTGGA 0.647000 8 93 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23928041 23928041 + Missense_Mutation SNP C C A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr19:23928041C>A ENST00000402377.3 - 4 452 c.311G>T c.(310-312)gGa>gTa p.G104V ZNF681_ENST00000395385.3_Missense_Mutation_p.G35V NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTCACATTTTCCATATCTTCT 0.338000 6 36 2.0095e-06 2.2019e-06 1 1 0 TRIP12 9320 broad.mit.edu 37 2 230705568 230705568 + Missense_Mutation SNP T T C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr2:230705568T>C ENST00000283943.5 - 4 1155 c.977A>G c.(976-978)cAa>cGa p.Q326R TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q368R|TRIP12_ENST00000409677.1_Missense_Mutation_p.Q368R NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 326 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CGTGGTCTTTTGGCGTGTGCT 0.403000 6 39 0 0 1 0 0 TXNRD3NB 645840 broad.mit.edu 37 3 126291181 126291181 + Missense_Mutation SNP A A T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr3:126291181A>T ENST00000383572.2 - 3 684 c.206T>A c.(205-207)cTg>cAg p.L69Q TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.L69Q NM_001039783.1 NP_001034872.1 Q6F5E7 TR3N_HUMAN thioredoxin reductase 3 neighbor 69 endometrium(1)|large_intestine(2)|skin(2) 5 ggAGATCTTCAGTAGTCTCTT 0.547000 5 82 0 0 1 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86146538 86146538 + Missense_Mutation SNP C C A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:86146538C>A ENST00000431532.2 - 7 1100 c.952G>T c.(952-954)Gct>Tct p.A318S ZNHIT6_ENST00000370574.3_Missense_Mutation_p.A357S NM_001170670.1|NM_017953.3 NP_001164141.1|NP_060423.3 Q9NWK9 BCD1_HUMAN zinc finger, HIT-type containing 6 357 box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 ATGTACTCAGCTTGACTTTGA 0.323000 3 32 0.004672 0.00491037 1 1 0 MTMR4 9110 broad.mit.edu 37 17 56581672 56581672 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr17:56581672C>T ENST00000323456.5 - 13 1601 c.1477G>A c.(1477-1479)Gca>Aca p.A493T MTMR4_ENST00000579925.1_Missense_Mutation_p.A493T NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 493 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACCAGGAATGCTTCATTAAAT 0.507000 17 109 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957502 35957502 + Missense_Mutation SNP G G C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr5:35957502G>C ENST00000274278.3 - 5 1220 c.863C>G c.(862-864)gCc>gGc p.A288G UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A254G|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A288G NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 288 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCCAAAGTTGGCAATGAAGTT 0.468000 4 33 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118371736 118371736 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr11:118371736C>T ENST00000534358.1 + 25 6216 c.6193C>T c.(6193-6195)Cgc>Tgc p.R2065C KMT2A_ENST00000389506.5_Missense_Mutation_p.R2062C|KMT2A_ENST00000354520.4_Missense_Mutation_p.R2024C NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CACAGATGCTCGCAAGCGCTG 0.458000 12 70 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10663588 10663588 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr19:10663588C>T ENST00000309469.4 + 10 1443 c.1270C>T c.(1270-1272)Cgg>Tgg p.R424W ATG4D_ENST00000540862.1_Missense_Mutation_p.R91W NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 424 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) AGCCACAGAGCGGTACCCCAT 0.622000 10 58 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139193838 139193838 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr5:139193838C>T ENST00000274710.3 + 4 1110 c.905C>T c.(904-906)cCt>cTt p.P302L NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 302 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGCAGACCCTCTGGCCAAC 0.642000 17 86 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13714705 13714705 + Missense_Mutation SNP C C G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr5:13714705C>G ENST00000265104.4 - 75 13038 c.12934G>C c.(12934-12936)Gag>Cag p.E4312Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4312 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCAAACACCTCAGGGCTGTCA 0.512000 Kartagener syndrome 8 50 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114304560 114304560 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr9:114304560G>A ENST00000309235.5 + 6 1503 c.1345G>A c.(1345-1347)Ggc>Agc p.G449S ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 449 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 AAAAGCCTTTGGCTATAGCGC 0.388000 8 65 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 124001517 124001517 + Splice_Site SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr10:124001517G>A ENST00000369005.1 + 19 8732 c.e19+1 TACC2_ENST00000369000.1_Splice_Site|TACC2_ENST00000515273.1_Splice_Site|TACC2_ENST00000513429.1_Splice_Site|TACC2_ENST00000368999.1_Splice_Site|TACC2_ENST00000334433.3_Splice_Site|TACC2_ENST00000369004.3_Splice_Site|TACC2_ENST00000260733.3_Splice_Site|TACC2_ENST00000358010.1_Splice_Site|TACC2_ENST00000453444.2_Splice_Site|TACC2_ENST00000369001.1_Splice_Site|TACC2_ENST00000360561.3_Splice_Site|TACC2_ENST00000515603.1_Splice_Site NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 microtubule organizing center|nucleus nuclear hormone receptor binding 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) CAGATGATAGGTAGGTGTCCT 0.507000 12 110 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112586051 112586051 + Silent SNP T T C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr12:112586051T>C ENST00000257604.5 + 8 1718 c.1101T>C c.(1099-1101)atT>atC p.I367I TRAFD1_ENST00000412615.2_Silent_p.I367I NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 367 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 AGAGCATCATTATCCCATGTG 0.517000 4 62 0 0 1 0 0 DCBLD2 131566 broad.mit.edu 37 3 98530369 98530369 + Missense_Mutation SNP G G T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr3:98530369G>T ENST00000326840.6 - 11 1755 c.1393C>A c.(1393-1395)Cct>Act p.P465T DCBLD2_ENST00000326857.9_Missense_Mutation_p.P465T NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 465 Poly-Pro. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 TTCCGAGGAGGTGGAGGTTGA 0.328000 12 73 0.0167234 0.0170545 1 1 0 LMNA 4000 broad.mit.edu 37 1 156108383 156108383 + Silent SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:156108383C>T ENST00000368300.4 + 11 2015 c.1803C>T c.(1801-1803)agC>agT p.S601S LMNA_ENST00000347559.2_Silent_p.S571S|LMNA_ENST00000473598.2_Silent_p.S502S|LMNA_ENST00000448611.2_Silent_p.S489S|LMNA_ENST00000368299.3_Silent_p.S601S|LMNA_ENST00000496738.1_3'UTR NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 601 Tail. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) CATCTGCCAGCGGCTCAGGAG 0.697000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 5 26 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278802 152278802 + Missense_Mutation SNP A A C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:152278802A>C ENST00000368799.1 - 3 8595 c.8560T>G c.(8560-8562)Tca>Gca p.S2854A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2854 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGCGACCCTGAGTGCCTGGAG 0.572000 Ichthyosis 55 986 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184297479 184297479 + Missense_Mutation SNP A A C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr3:184297479A>C ENST00000330394.2 + 11 2381 c.1929A>C c.(1927-1929)gaA>gaC p.E643D EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 643 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CTGCAGGGGAATTTGGGGAAG 0.617000 5 47 0 0 1 0 0 USP35 57558 broad.mit.edu 37 11 77916981 77916981 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr11:77916981C>T ENST00000529308.1 + 7 1552 c.1291C>T c.(1291-1293)Cgg>Tgg p.R431W USP35_ENST00000526425.1_Missense_Mutation_p.R162W|USP35_ENST00000441408.2_Silent_p.P15P|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_5'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 431 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TTTCTATCCCCGGCTCATGGC 0.562000 27 261 0 0 1 0 0 BANP 54971 broad.mit.edu 37 16 88052251 88052251 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr16:88052251G>A ENST00000393207.1 + 7 1070 c.849G>A c.(847-849)ccG>ccA p.P283P BANP_ENST00000355022.4_Silent_p.P252P|BANP_ENST00000355163.5_Silent_p.P258P|BANP_ENST00000538234.1_Silent_p.P291P|BANP_ENST00000479780.2_Silent_p.P252P|BANP_ENST00000393208.2_Silent_p.P252P|BANP_ENST00000286122.7_Silent_p.P283P NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 283 BEN.|Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) AGCTGGACCCGCTCACCATCT 0.647000 3 5 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92625620 92625620 + Silent SNP T T A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr14:92625620T>A ENST00000298875.4 + 14 2400 c.2115T>A c.(2113-2115)ccT>ccA p.P705P NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 705 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) CCTTGCCACCTCATGAGGTAA 0.368000 4 66 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64521397 64521397 + Missense_Mutation SNP G G T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr11:64521397G>T ENST00000164139.3 - 10 1591 c.1193C>A c.(1192-1194)cCg>cAg p.P398Q PYGM_ENST00000377432.3_Missense_Mutation_p.P310Q NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 398 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GAGGTGCCGCGGCAGCAGCGT 0.652000 3 18 1 1 1 1 0 UBR1 197131 broad.mit.edu 37 15 43350570 43350570 + Missense_Mutation SNP T T C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr15:43350570T>C ENST00000290650.4 - 10 1229 c.1151A>G c.(1150-1152)tAc>tGc p.Y384C UBR1_ENST00000382177.2_Missense_Mutation_p.Y384C NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 384 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) GAGTTTTTTGTATTCCATCTC 0.313000 16 106 0 0 1 0 0 RNF185 91445 broad.mit.edu 37 22 31597555 31597555 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr22:31597555G>A ENST00000326132.5 + 6 594 c.435G>A c.(433-435)ggG>ggA p.G145G RNF185_ENST00000426256.2_Silent_p.G83G|RNF185_ENST00000266252.7_Silent_p.G89G NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 145 integral to membrane zinc ion binding NS(1)|large_intestine(1)|lung(3)|skin(1) 6 TTCCCTTTGGGATATTTGCCA 0.418000 4 161 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134120127 134120127 + Missense_Mutation SNP T T A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr5:134120127T>A ENST00000452510.2 + 10 1396 c.1238T>A c.(1237-1239)aTt>aAt p.I413N DDX46_ENST00000354283.4_Missense_Mutation_p.I413N|DDX46_ENST00000509178.1_3'UTR NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 413 Helicase ATP-binding. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGAGATTTGATTGGCATTGCC 0.448000 4 139 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139674288 139674288 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr8:139674288G>A ENST00000303045.6 - 43 3671 c.3225C>T c.(3223-3225)ggC>ggT p.G1075G COL22A1_ENST00000435777.1_Silent_p.G1055G|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1075 Collagen-like 9.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGCCGGCTGGGCCCTGGGGGC 0.547000 HNSCC(7;0.00092) 4 86 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116838907 116838907 + Silent SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr9:116838907C>T ENST00000265132.3 - 2 493 c.231G>A c.(229-231)gcG>gcA p.A77A NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 77 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TGCTGATCTCCGCCTCTGTAG 0.612000 5 50 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7586031 7586031 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr6:7586031C>T ENST00000379802.3 + 24 8877 c.8536C>T c.(8536-8538)Cgg>Tgg p.R2846W DSP_ENST00000418664.2_Missense_Mutation_p.R2247W NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2846 6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) cAGTGGGTCCCGGAGAGGAAG 0.577000 14 86 0 0 1 0 0 SUPT3H 8464 broad.mit.edu 37 6 44971521 44971521 + Missense_Mutation SNP T T C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr6:44971521T>C ENST00000371460.1 - 8 723 c.406A>G c.(406-408)Agt>Ggt p.S136G SUPT3H_ENST00000371459.1_Missense_Mutation_p.S125G|SUPT3H_ENST00000306867.5_Missense_Mutation_p.S125G|SUPT3H_ENST00000371461.2_Missense_Mutation_p.S136G NM_181356.2 NP_852001.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) 207 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 TTGCTGCCACTCAATTTGTCT 0.338000 8 66 0 0 1 0 0 SMDT1 91689 broad.mit.edu 37 22 42477982 42477982 + Silent SNP C C T rs143702734 byFrequency TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr22:42477982C>T ENST00000331479.3 + 2 314 c.240C>T c.(238-240)gtC>gtT p.V80V SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 TTCTCTATGTCGGGACACTCA 0.488000 12 97 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31537316 31537316 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr18:31537316G>A ENST00000261592.5 - 8 1699 c.1402C>T c.(1402-1404)Cgg>Tgg p.R468W NOL4_ENST00000538587.1_Missense_Mutation_p.R394W|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.R183W NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 468 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CTTTTCATCCGCCTGCAGGAC 0.418000 6 68 0 0 1 0 0 SYDE2 84144 broad.mit.edu 37 1 85624650 85624650 + Missense_Mutation SNP C C A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:85624650C>A ENST00000341460.5 - 7 3417 c.3368G>T c.(3367-3369)gGa>gTa p.G1123V NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 1123 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) ATAATTTTCTCCGATTTTTCT 0.363000 5 52 0.014758 0.0152007 1 1 0 ACP5 54 broad.mit.edu 37 19 11687262 11687262 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr19:11687262G>A ENST00000592828.1 - 6 933 c.531C>T c.(529-531)gaC>gaT p.D177D ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Silent_p.D177D|ACP5_ENST00000412435.2_Silent_p.D177D|ACP5_ENST00000433365.2_Silent_p.D177D NM_001111034.1 NP_001104504.1 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 177 DVKL -> LT (in Ref. 1; AAA76849). water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 9 CCAGCTTCACGTCTCGGGGCC 0.597000 9 41 0 0 1 0 0 CHTOP 26097 broad.mit.edu 37 1 153610803 153610803 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:153610803C>T ENST00000368694.3 + 3 410 c.98C>T c.(97-99)aCg>aTg p.T33M CHTOP_ENST00000368687.1_Missense_Mutation_p.T8M|CHTOP_ENST00000368690.3_Missense_Mutation_p.T33M|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000403433.1_Missense_Mutation_p.T33M NM_001206612.1|NM_015607.3 NP_001193541.1|NP_056422.2 Q9Y3Y2 CHTOP_HUMAN chromatin target of PRMT1 33 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding p.T33M(1) endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 AAACAGCCGACGCCAGTGAAT 0.428000 6 130 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648704 62648704 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr10:62648704G>A ENST00000337910.5 - 6 1059 c.722C>T c.(721-723)cCg>cTg p.P241L RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P241L NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 241 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding p.P241L(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) TTTGATGACCGGTGGAGGGGC 0.493000 23 146 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6635003 6635003 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:6635003G>A ENST00000333172.6 + 3 1004 c.811G>A c.(811-813)Gtg>Atg p.V271M TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.V271M NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 271 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GGCCACCGTCGTGGTTGTTTT 0.617000 13 41 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377685 50377685 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chrX:50377685G>A ENST00000376020.2 - 4 1413 c.1388C>T c.(1387-1389)cCt>cTt p.P463L SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P463L NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 463 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TCCTCCTGTAGGGGGGCATGG 0.552000 21 50 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153881733 153881733 + Missense_Mutation SNP C C T rs149221149 TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr4:153881733C>T ENST00000511601.1 + 5 868 c.680C>T c.(679-681)gCg>gTg p.A227V FHDC1_ENST00000260008.3_Missense_Mutation_p.A227V Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 227 FH2. actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) AAGTTAAAAGCGTTTAGTGGC 0.363000 10 94 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58292126 58292126 + Missense_Mutation SNP G G T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr17:58292126G>T ENST00000300896.4 - 17 2071 c.1877C>A c.(1876-1878)cCt>cAt p.P626H USP32_ENST00000592339.1_Missense_Mutation_p.P296H NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 626 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATTCGGAGAAGGTACATTTCC 0.403000 8 41 4.68919e-08 5.24985e-08 1 1 0 C18orf56 494514 broad.mit.edu 37 18 658147 658147 + Missense_Mutation SNP C C A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr18:658147C>A ENST00000323813.3 - 1 193 c.101G>T c.(100-102)tGt>tTt p.C34F TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323274.10_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.C34F NM_001012716.2 NP_001012734.2 Q8TAI1 CR056_HUMAN chromosome 18 open reading frame 56 34 protein binding GCGGGCAACACACACAGCAGC 0.692000 10 3 0.0692343 0.0699131 1 1 0 PIK3CA 5290 broad.mit.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A rs121913284 TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr3:178921553T>A ENST00000263967.3 + 5 1192 c.1035T>A c.(1033-1035)aaT>aaA p.N345K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 345 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.N345K(44) 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) CCTACGTGAATGTAAATATTC 0.308000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 22 97 0 0 1 0 0 CCT6P1 643253 broad.mit.edu 37 7 65223278 65223278 + RNA SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr7:65223278C>T ENST00000442266.1 + 0 772 TCGCTCTTCACAGAGCTAAAA 0.323000 3 19 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42114547 42114547 + Silent SNP C C A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr15:42114547C>A ENST00000457542.2 + 26 3442 c.3156C>A c.(3154-3156)ggC>ggA p.G1052G MAPKBP1_ENST00000221214.6_Silent_p.G935G|MAPKBP1_ENST00000260357.7_Silent_p.G891G|MAPKBP1_ENST00000514566.1_Silent_p.G1052G|MAPKBP1_ENST00000456763.2_Silent_p.G1058G NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1058 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TACAGGAGGGCAGCCCCCAGA 0.572000 3 26 0.004672 0.00491037 1 1 0 CASP8 841 broad.mit.edu 37 2 202131273 202131273 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr2:202131273C>T ENST00000358485.4 + 2 437 c.241C>T c.(241-243)Ctc>Ttc p.L81F CASP8_ENST00000392266.3_Missense_Mutation_p.L22F|CASP8_ENST00000432109.2_Missense_Mutation_p.L22F|CASP8_ENST00000392259.2_Missense_Mutation_p.L22F|CASP8_ENST00000323492.7_Missense_Mutation_p.L22F|CASP8_ENST00000392258.3_Missense_Mutation_p.L22F|CASP8_ENST00000264274.9_Missense_Mutation_p.L22F|CASP8_ENST00000264275.5_Missense_Mutation_p.L22F NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 22 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TCTGGCCTCCCTCAAGTTCCT 0.423000 HNSCC(4;0.00038) 7 55 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70642746 70642746 + Silent SNP A A G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr6:70642746A>G ENST00000322773.4 + 7 840 c.738A>G c.(736-738)tcA>tcG p.S246S NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 246 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GTGAAATATCAGATACTAAGG 0.328000 5 24 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19752452 19752452 + Silent SNP G G A rs114178008 TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr13:19752452G>A ENST00000400113.3 - 3 413 c.309C>T c.(307-309)taC>taT p.Y103Y NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 103 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.Y103*(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GGCCTCTGGCGTAATTATTGG 0.527000 17 124 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844883 18844883 + RNA SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr22:18844883C>T ENST00000412938.1 + 0 3133 GGGCAGCTCACGGAAATACAG 0.582000 5 82 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28227135 28227135 + Translation_Start_Site SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr6:28227135G>A ENST00000343684.3 + 0 38 NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 ACCGCCCAGCGTTGAGGCGCG 0.662000 6 26 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6190292 6190292 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:6190292G>A ENST00000262450.3 - 22 3458 c.3359C>T c.(3358-3360)tCg>tTg p.S1120L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1120 Helicase C-terminal. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTTCCAGTCCGAGTCGTAGAT 0.652000 8 45 0 0 1 0 0 PEX6 5190 broad.mit.edu 37 6 42946178 42946178 + Silent SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr6:42946178C>T ENST00000304611.8 - 1 780 c.711G>A c.(709-711)ccG>ccA p.P237P PEX6_ENST00000244546.4_Silent_p.P237P NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 237 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) TAGCCAAGTGCGGCTGTGAAG 0.647000 4 76 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38189381 38189381 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr17:38189381G>A ENST00000394126.1 - 7 1243 c.825C>T c.(823-825)ctC>ctT p.L275L MED24_ENST00000356271.3_Silent_p.L237L|MED24_ENST00000501516.3_Silent_p.L269L|MED24_ENST00000394127.2_Silent_p.L237L|MED24_ENST00000394128.2_Silent_p.L250L O75448 MED24_HUMAN mediator complex subunit 24 250 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) TGGTGCCCTCGAGCAGGATCA 0.632000 8 58 0 0 1 0 0 ORC2 4999 broad.mit.edu 37 2 201791505 201791505 + Missense_Mutation SNP T T C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr2:201791505T>C ENST00000234296.2 - 12 1285 c.1036A>G c.(1036-1038)Atc>Gtc p.I346V NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 346 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 TTCACACTGATTCCAGGAAAG 0.373000 4 94 0 0 1 0 0 GCHFR 2644 broad.mit.edu 37 15 41059435 41059435 + Missense_Mutation SNP A A C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr15:41059435A>C ENST00000558467.1 + 2 314 c.92A>C c.(91-93)tAc>tCc p.Y31S GCHFR_ENST00000559932.1_Missense_Mutation_p.Y31S|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Missense_Mutation_p.Y37S|GCHFR_ENST00000260447.4_Missense_Mutation_p.Y48S P30047 GFRP_HUMAN GTP cyclohydrolase I feedback regulator 48 negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process cytosol|dendrite|melanosome|nuclear membrane endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1) 6 all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) TATGAATACTACGTCGATGAC 0.607000 11 83 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58837961 58837961 + Missense_Mutation SNP T T A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr15:58837961T>A ENST00000414170.3 + 6 882 c.595T>A c.(595-597)Ttg>Atg p.L199M LIPC_ENST00000433326.2_Missense_Mutation_p.L138M|LIPC_ENST00000356113.6_Missense_Mutation_p.L199M|LIPC_ENST00000299022.5_Missense_Mutation_p.L199M P11150 LIPC_HUMAN lipase, hepatic 199 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CGCGGGACCTTTGTTTGAGGG 0.517000 5 56 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344196 38344196 + Nonsense_Mutation SNP G G T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr10:38344196G>T ENST00000374618.3 + 5 1322 c.1144G>T c.(1144-1146)Gag>Tag p.E382* ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.E381*|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E388*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E381* NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 381 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 ACACACAGGGGAGAAACCTTT 0.428000 22 100 2.37509e-13 2.68829e-13 1 1 0 ST6GALNAC6 30815 broad.mit.edu 37 9 130656799 130656799 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr9:130656799C>T ENST00000373146.1 - 4 468 c.289G>A c.(289-291)Ggc>Agc p.G97S ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G97S|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G97S|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000542456.1_Silent_p.S32S Q969X2 SIA7F_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 97 protein glycosylation integral to Golgi membrane|plasma membrane endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ACCTTGTTGCCGAGAATGGGG 0.582000 9 91 0 0 1 0 0 PPWD1 23398 broad.mit.edu 37 5 64859174 64859174 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr5:64859174C>T ENST00000261308.5 + 1 109 c.37C>T c.(37-39)Cgt>Tgt p.R13C PPWD1_ENST00000538977.1_5'UTR|PPWD1_ENST00000535264.1_5'UTR NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 13 Poly-Arg. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) TCAGCAGAGACGTAGAAGGCG 0.562000 13 71 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C T rs104894229 TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr11:534289C>T ENST00000417302.1 - 2 221 c.34G>A c.(34-36)Ggc>Agc p.G12S HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). 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.G12S(58)|p.G12C(25)|p.G12R(12) 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) CCCACACCGCCGGCGCCCACC 0.647000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 14 34 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49626747 49626747 + Silent SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr20:49626747C>T ENST00000371571.4 - 2 414 c.129G>A c.(127-129)gcG>gcA p.A43A KCNG1_ENST00000396017.3_Silent_p.A43A NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 43 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCAGCCGCTGCGCCCGGCGGT 0.697000 5 27 0 0 1 0 0 NEK4 6787 broad.mit.edu 37 3 52780141 52780141 + Missense_Mutation SNP T T G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr3:52780141T>G ENST00000233027.5 - 10 1965 c.1763A>C c.(1762-1764)aAc>aCc p.N588T NEK4_ENST00000535191.1_Missense_Mutation_p.N499T|NEK4_ENST00000383721.4_Missense_Mutation_p.N542T NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 588 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TCTACGTTGGTTTTCAGCCTC 0.413000 30 183 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70991263 70991263 + Missense_Mutation SNP C C A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr14:70991263C>A ENST00000256389.3 - 2 606 c.362G>T c.(361-363)aGa>aTa p.R121I RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 71 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GACAATGTATCTCTGTCCCCC 0.532000 14 67 0.000151284 0.000164024 1 1 0 NUP210L 91181 broad.mit.edu 37 1 154031152 154031152 + Silent SNP A A T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:154031152A>T ENST00000368559.3 - 21 2939 c.2868T>A c.(2866-2868)ccT>ccA p.P956P NUP210L_ENST00000271854.3_Silent_p.P956P NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 956 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TAAAAAATCCAGGATGTAATG 0.433000 15 67 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7688059 7688059 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr19:7688059G>A ENST00000358368.4 - 9 1273 c.1236C>T c.(1234-1236)gaC>gaT p.D412D XAB2_ENST00000534844.1_Silent_p.D409D NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 412 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 TGCTCACATCGTCCAGCTGTC 0.527000 Direct reversal of damage;Nucleotide excision repair (NER) 4 71 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235993708 235993708 + Missense_Mutation SNP C C T rs141312203 byFrequency TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:235993708C>T ENST00000389794.3 - 3 184 c.10G>A c.(10-12)Gac>Aac p.D4N LYST_ENST00000389793.2_Missense_Mutation_p.D4N|LYST_ENST00000536965.1_Missense_Mutation_p.D4N Q99698 LYST_HUMAN lysosomal trafficking regulator 4 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GAGTTACTGTCGGTGCTCATG 0.403000 9 36 0 0 1 0 0 CARS2 79587 broad.mit.edu 37 13 111299479 111299479 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr13:111299479C>T ENST00000257347.4 - 11 1225 c.1162G>A c.(1162-1164)Ggc>Agc p.G388S CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 388 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CTGACGGAGCCGCAGGCCAGC 0.667000 3 7 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145636573 145636573 + Missense_Mutation SNP G G C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr4:145636573G>C ENST00000296575.3 + 10 2324 c.1669G>C c.(1669-1671)Gat>Cat p.D557H NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 557 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) ATTTGGAGAAGATGAACTAGG 0.423000 19 117 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 190 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112929033 112929033 + Missense_Mutation SNP C C A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr5:112929033C>A ENST00000161863.4 + 29 4459 c.4246C>A c.(4246-4248)Cag>Aag p.Q1416K NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1416 YTH. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ACAGTTGCTCCAGTTATGGGA 0.363000 8 49 3.09899e-07 3.43221e-07 1 1 0 OR4N4 283694 broad.mit.edu 37 15 22383025 22383025 + Missense_Mutation SNP A A G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr15:22383025A>G ENST00000328795.4 + 1 644 c.553A>G c.(553-555)Atc>Gtc p.I185V RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCGACAGGTCATCAAGCTGGC 0.522000 18 145 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30794848 30794848 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr16:30794848G>A ENST00000262525.4 - 3 1008 c.801C>T c.(799-801)tgC>tgT p.C267C NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) AAGCCCGGCGGCACTCGCCGC 0.637000 4 91 0 0 1 0 0 MOS 4342 broad.mit.edu 37 8 57025799 57025799 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr8:57025799G>A ENST00000311923.1 - 1 742 c.743C>T c.(742-744)cCg>cTg p.P248L NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 248 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) CAGGAGCTCCGGGGCGCGGTG 0.537000 5 66 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42788430 42788430 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr20:42788430C>T ENST00000372980.3 - 2 1869 c.997G>A c.(997-999)Gac>Aac p.D333N NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 333 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGGTGGCCGTCGGGCAGCGTG 0.662000 10 28 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 50 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68181289 68181289 + Missense_Mutation SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr11:68181289G>A ENST00000294304.7 + 12 2742 c.2636G>A c.(2635-2637)cGc>cAc p.R879H NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 879 Beta-propeller 3. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGCCGGAACCGCACCCTCATC 0.587000 4 59 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377686 50377686 + Missense_Mutation SNP G G T rs147607307 byFrequency TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chrX:50377686G>T ENST00000376020.2 - 4 1412 c.1387C>A c.(1387-1389)Cct>Act p.P463T SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347T|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P463T NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 463 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CCTCCTGTAGGGGGGCATGGA 0.557000 19 50 8.81451e-21 1.00877e-20 1 1 0 NFATC1 4772 broad.mit.edu 37 18 77246756 77246756 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr18:77246756G>A ENST00000329101.4 + 9 2618 c.2562G>A c.(2560-2562)gcG>gcA p.A854A NFATC1_ENST00000427363.2_Silent_p.A867A|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Silent_p.A395A|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000253506.5_Intron NM_001278669.1|NM_001278673.1|NM_172387.1 NP_001265598.1|NP_001265602.1|NP_765975.1 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 867 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GCAGCCCAGCGTGCCCGCCCG 0.741000 6 37 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 6 111 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78362441 78362441 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr12:78362441G>A ENST00000397909.2 + 5 803 c.630G>A c.(628-630)tcG>tcA p.S210S NAV3_ENST00000266692.7_Silent_p.S210S|NAV3_ENST00000228327.6_Silent_p.S210S|NAV3_ENST00000536525.2_Silent_p.S210S Q8IVL0 NAV3_HUMAN neuron navigator 3 210 S -> W (in dbSNP:rs34195711). nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CCCCTCCATCGGAAGCCAGCC 0.458000 HNSCC(70;0.22) 8 69 0 0 1 0 0 MIER1 57708 broad.mit.edu 37 1 67423735 67423744 + Splice_Site DEL TATTTAGGAA TATTTAGGAA - TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:67423735_67423744delTATTTAGGAA ENST00000357692.2 + 6 488_491 c.231_splice c.e6-1 p.77_splice MIER1_ENST00000371014.1_Splice_Site_p.113_splice|MIER1_ENST00000371016.1_Splice_Site_p.77_splice|MIER1_ENST00000355977.6_5'UTR|MIER1_ENST00000371018.3_Splice_Site_p.77_splice|MIER1_ENST00000401042.3_Splice_Site_p.60_splice|MIER1_ENST00000401041.1_Splice_Site_p.113_splice|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355356.3_Splice_Site_p.60_splice NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 84 Glu-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 TATTTTGATTTATTTAGGAAGGCGACATGC 0.367 8 69 --- --- --- --- HDGF 3068 broad.mit.edu 37 1 156713619 156713619 + Frame_Shift_Del DEL C C - TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr1:156713619delC ENST00000357325.5 - 5 855 c.541delG c.(541-543)agfs p.E181fs HDGF_ENST00000416666.2_Frame_Shift_Del_p.E149fs|HDGF_ENST00000368209.5_Frame_Shift_Del_p.E174fs|HDGF_ENST00000537739.1_Frame_Shift_Del_p.E181fs|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Frame_Shift_Del_p.E197fs NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 181 Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) GTGGCTGCCTCCTTCTCCTCT 0.607 8 42 --- --- --- --- EEF1A1 1915 broad.mit.edu 37 6 74228912 74228914 + In_Frame_Del DEL CAC CAC - TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr6:74228912_74228914delCAC ENST00000316292.9 - 3 1353_1355 c.362_364delGTG c.(361-366)gaa>g p.GE121del EEF1A1_ENST00000309268.6_In_Frame_Del_p.GE121del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.GE121del|EEF1A1_ENST00000491404.1_5'UTR NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 121 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GCTTCAAATTCACCAACACCAGC 0.448 OREG0003891 type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 39 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64966991 64966992 + Frame_Shift_Ins INS - - A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr10:64966991_64966992insA ENST00000399262.2 - 10 4655_4656 c.4437_4438insT c.(4435-4440)tttccafs p.P1480fs JMJD1C_ENST00000399251.1_Frame_Shift_Ins_p.P1261fs|JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.P1298fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.P1261fs NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1480 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTAAATGGATAAAATCAGTTG 0.416 12 84 --- --- --- --- TNP2 7142 broad.mit.edu 37 16 11363090 11363090 + Frame_Shift_Del DEL G G - TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr16:11363090delG ENST00000312693.3 - 1 99 c.30delC c.(28-30)atfs p.I10fs RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) 10 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 GAGTGTGGGTGATAGGAAGGC 0.602 9 84 --- --- --- --- ONECUT3 390874 broad.mit.edu 37 19 1775407 1775408 + Frame_Shift_Ins INS - - C rs140318443 by1000genomes TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr19:1775407_1775408insC ENST00000382349.4 + 2 2738_2739 c.1448_1449insC c.(1447-1449)gccfs p.A483fs NM_001080488.1 NP_001073957.1 O60422 ONEC3_HUMAN one cut homeobox 3 483 endocrine pancreas development sequence-specific DNA binding Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07) 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) gcccccgggggccccgccggcg 0.738 2 4 --- --- --- --- ITCH 83737 broad.mit.edu 37 20 33033102 33033103 + Frame_Shift_Ins INS - - G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e12d842d-b412-41d6-9be6-f8d1fe157564 b9f34058-a7c9-4b19-a4d9-331975a6a472 g.chr20:33033102_33033103insG ENST00000374864.4 + 11 1189_1190 c.976_977insG c.(976-978)ggtfs p.G326fs ITCH_ENST00000535650.1_Frame_Shift_Ins_p.G216fs|ITCH_ENST00000262650.6_Frame_Shift_Ins_p.G367fs NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 367 WW 1. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 CTGGGAACGGCGGGTTGACAAC 0.371 10 83 --- --- --- ---