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 SELL 6402 broad.mit.edu 37 1 169677858 169677858 + Nonsense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:169677858G>A ENST00000236147.4 - 3 371 c.211C>T c.(211-213)Cga>Tga p.R71* C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 58 C-type lectin. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TAATTGTCTCGGCAGAATCTT 0.433000 7 84 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29443582 29443582 + Missense_Mutation SNP C C T rs143790259 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:29443582C>T ENST00000389048.3 - 23 4541 c.3635G>A c.(3634-3636)cGc>cAc p.R1212H ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1212 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R1212H(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CGGGCGAGGGCGGGTCTCTCG 0.602000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 26 119 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 8 623 0 0 1 0 0 ACKR6 0 broad.mit.edu 37 17 6428759 6428759 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:6428759G>A ENST00000262483.8 - 3 230 c.143C>T c.(142-144)gCc>gTc p.A48V ACKR6_ENST00000421306.3_Intron NM_031220.3 NP_112497.2 AATGAGGATGGCATTCTTCCC 0.542000 6 380 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098791 11098791 + RNA SNP C C A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr21:11098791C>A ENST00000470054.1 - 0 134 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aacactccagctgcgctgcca 0.632000 6 623 0.00448238 0.00453246 1 1 0 EPOR 2057 broad.mit.edu 37 19 11492697 11492697 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:11492697G>A ENST00000592375.2 - 3 440 c.336C>T c.(334-336)gcC>gcT p.A112A EPOR_ENST00000222139.6_Silent_p.A112A P19235 EPOR_HUMAN erythropoietin receptor 112 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) TCGACGTGTCGGCTGTAGGCA 0.617000 33 229 0 0 1 0 0 PIAS3 10401 broad.mit.edu 37 1 145578668 145578668 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:145578668G>A ENST00000393045.2 + 3 564 c.474G>A c.(472-474)gcG>gcA p.A158A PIAS3_ENST00000369298.1_Silent_p.A123A|PIAS3_ENST00000369299.3_Silent_p.A149A NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 158 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGAGGAAGCGCACTTTACCT 0.537000 44 720 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210742 100210742 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:100210742C>T ENST00000317233.4 - 14 1616 c.1381G>A c.(1381-1383)Gca>Aca p.A461T AFF3_ENST00000409236.1_Missense_Mutation_p.A461T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 461 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A486T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TTAGAGGATGCCGGTTCAGCC 0.443000 7 985 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106431448 106431448 + Missense_Mutation SNP C C G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:106431448C>G ENST00000407775.2 + 2 367 c.117C>G c.(115-117)gaC>gaG p.D39E ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 39 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCAAAGGAGACTTTCCATTGG 0.423000 42 282 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 287 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73616169 73616169 + Nonsense_Mutation SNP G G T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr15:73616169G>T ENST00000261917.3 - 8 3258 c.2265C>A c.(2263-2265)tgC>tgA p.C755* NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 755 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) CGCGGTGCGCGCAGTGGGCCA 0.637000 36 189 1.04352e-10 1.11104e-10 1 1 0 IKZF2 22807 broad.mit.edu 37 2 213914507 213914507 + Missense_Mutation SNP G G C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:213914507G>C ENST00000457361.1 - 5 672 c.504C>G c.(502-504)ttC>ttG p.F168L IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L|IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000434687.1_Missense_Mutation_p.F168L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000374327.4_Intron NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) AAGGACATTTGAACGGCTTCT 0.493000 11 261 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860914 13860914 + Nonsense_Mutation SNP C C A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:13860914C>A ENST00000285018.4 - 4 881 c.577G>T c.(577-579)Gag>Tag p.E193* NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 193 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 ATGTTCTCCTCCAGGATCTGC 0.657000 5 352 0.0215528 0.0215528 1 1 0 MST1R 4486 broad.mit.edu 37 3 49936064 49936064 + Missense_Mutation SNP A A G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:49936064A>G ENST00000296474.3 - 4 1633 c.1606T>C c.(1606-1608)Tgc>Cgc p.C536R MST1R_ENST00000344206.4_Missense_Mutation_p.C536R NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 536 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GCCCTTAGGCAACGCCCACAG 0.612000 48 253 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674725 71674725 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:71674725G>A ENST00000299952.4 + 3 1071 c.1028G>A c.(1027-1029)cGc>cAc p.R343H PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron NM_001017967.2 NP_001017967.2 Q96A59 MALD3_HUMAN MARVEL domain containing 3 346 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) CTCTATGCCCGCAAGGGTCTC 0.587000 5 264 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 181 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73947567 73947567 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:73947567C>T ENST00000537812.1 - 8 1570 c.922G>A c.(922-924)Gca>Aca p.A308T ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T|ACOX1_ENST00000301608.4_Missense_Mutation_p.A346T NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 346 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TTCATGTATGCGCCCACAAAC 0.488000 5 470 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126771182 126771182 + Splice_Site SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:126771182G>A ENST00000274473.6 + 17 2371 c.e17+1 MEGF10_ENST00000503335.2_Splice_Site NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup p.?(1) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TGCTCTCAACGTAAGTCTTGT 0.373000 20 186 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 6 344 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113326150 113326150 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:113326150G>A ENST00000297405.5 - 49 7925 c.7681C>T c.(7681-7683)Cgg>Tgg p.R2561W CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2561 CUB 14. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATCTTATCCGGAAGCCTTTT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 259 0 0 1 0 0 FSD1 79187 broad.mit.edu 37 19 4310553 4310553 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:4310553G>A ENST00000221856.6 + 6 597 c.450G>A c.(448-450)gcG>gcA p.A150A FSD1_ENST00000597590.1_Silent_p.A150A|FSD1_ENST00000598010.1_3'UTR NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 150 COS. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) TGGACTTCGCGCAAGAGCGGC 0.592000 6 420 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7798217 7798217 + Missense_Mutation SNP C C T rs139225365 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:7798217C>T ENST00000303635.7 + 16 4064 c.3857C>T c.(3856-3858)aCa>aTa p.T1286I CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1286 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GTCCCCGAGACACTCAGCCCC 0.552000 T WWTR1 epitheliod hemangioendothelioma 5 195 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274343 39274343 + Silent SNP A A G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:39274343A>G ENST00000391413.2 - 1 263 c.225T>C c.(223-225)tgT>tgC p.C75C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 75 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCTGGGGCGACAGCAGCTGG 0.657000 7 352 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 156974879 156974879 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:156974879C>T ENST00000348165.5 + 8 1208 c.848C>T c.(847-849)cCg>cTg p.P283L UBE3C_ENST00000389103.4_Missense_Mutation_p.P240L NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 283 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TTCATCATTCCGGCGCTTGCA 0.438000 6 486 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56086734 56086734 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:56086734C>T ENST00000257880.7 - 22 3089 c.2870G>A c.(2869-2871)cGg>cAg p.R957Q ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q|ITGA7_ENST00000555728.1_Missense_Mutation_p.R957Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q Q13683 ITA7_HUMAN integrin, alpha 7 957 Poly-Arg. cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CAGCTCCCGCCGCCTCCTATC 0.597000 17 187 0 0 1 0 0 ADRA1D 146 broad.mit.edu 37 20 4202204 4202204 + Missense_Mutation SNP G G A rs147522815 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr20:4202204G>A ENST00000379453.4 - 2 1801 c.1685C>T c.(1684-1686)gCc>gTc p.A562V NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 562 KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) GCTGTAGTCGGCCAATTCGTA 0.667000 OREG0025743 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 239 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 8 348 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977377 29977377 + RNA SNP C C G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr6:29977377C>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TTTGTGACTTCAAGAACCCTG 0.458000 6 185 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79366517 79366517 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:79366517G>A ENST00000350881.2 + 12 1694 c.1504G>A c.(1504-1506)Ggc>Agc p.G502S THBS4_ENST00000511733.1_Missense_Mutation_p.G411S|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 502 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) AGACAGAGATGGCATTGGCGA 0.517000 30 472 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189850473 189850473 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:189850473G>A ENST00000304636.3 + 4 586 c.416G>A c.(415-417)gGa>gAa p.G139E COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 139 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGCCCCCCTGGAATCTGTGAA 0.448000 10 147 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048455 42048455 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:42048455C>T ENST00000372584.1 - 3 3028 c.2014G>A c.(2014-2016)Gca>Aca p.A672T HIVEP3_ENST00000247584.5_Missense_Mutation_p.A672T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A672T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A672T NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 672 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) ATGGGCTTTGCGATCTGAAGC 0.463000 6 557 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593261 1593261 + RNA SNP A A T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:1593261A>T ENST00000436493.2 - 0 364 CTCAGGGCACATGCCTGACCA 0.542000 16 224 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21562296 21562296 + Silent SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr13:21562296C>T ENST00000382592.4 - 4 2028 c.1623G>A c.(1621-1623)gaG>gaA p.E541E LATS2_ENST00000542899.1_Silent_p.E541E NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 541 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GGAGGCTCTGCTCCATGCCTG 0.657000 43 295 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51467710 51467710 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:51467710G>A ENST00000228515.1 - 3 604 c.307C>T c.(307-309)Cgg>Tgg p.R103W NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 103 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 GTATAGCTCCGTACAGAGTTA 0.537000 5 469 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55252908 55252908 + Missense_Mutation SNP A A C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:55252908A>C ENST00000337526.6 - 3 2570 c.2327T>G c.(2326-2328)tTt>tGt p.F776C RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000405240.1_Missense_Mutation_p.F570C|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C|RTN4_ENST00000357376.3_Missense_Mutation_p.F570C|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 776 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CATTGACTCAAATGAAGTCTC 0.363000 38 305 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 18 187 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11188775 11188775 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:11188775G>A ENST00000382435.4 + 1 379 c.160G>A c.(160-162)Gtg>Atg p.V54M NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 54 DUF6 1. integral to membrane TGCTGGCTTCGTGGGCCCCCT 0.662000 6 353 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611913 179611913 + Silent SNP T T G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:179611913T>G ENST00000360870.5 - 46 15436 c.15214A>C c.(15214-15216)Aga>Cga p.R5072R TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1179 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGGAGTATCTCTCTAGAGTC 0.532000 14 369 0 0 1 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G G T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:39305619G>T ENST00000343246.4 - 1 435 c.401C>A c.(400-402)tCt>tAt p.S134Y NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 139 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament p.S134Y(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.637000 6 110 1.58986e-06 1.64437e-06 1 1 0 IGFBP4 3487 broad.mit.edu 37 17 38609333 38609333 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:38609333G>A ENST00000269593.4 + 2 721 c.446G>A c.(445-447)cGg>cAg p.R149Q IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q NM_001552.2 NP_001543.2 P22692 IBP4_HUMAN insulin-like growth factor binding protein 4 149 DNA metabolic process|signal transduction|skeletal system development NS(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) ATTCGAGACCGGAGCACCAGT 0.602000 4 197 0 0 1 0 0 MARS2 92935 broad.mit.edu 37 2 198571112 198571112 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:198571112G>A ENST00000282276.6 + 1 1026 c.983G>A c.(982-984)gGc>gAc p.G328D AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 328 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity p.G328D(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TTAGGGGCCGGCATGAGCCCG 0.542000 6 890 0 0 1 0 0 GSG1 83445 broad.mit.edu 37 12 13240148 13240148 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:13240148C>T ENST00000396302.3 - 5 898 c.700G>A c.(700-702)Gac>Aac p.D234N GSG1_ENST00000457134.2_Silent_p.A141A|GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000337630.6_Silent_p.A192A|GSG1_ENST00000324458.8_Silent_p.A228A|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000396310.2_Silent_p.A161A NM_031289.3 NP_112579.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 0 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) AGTTGACAGTCGCTTGGAAGA 0.507000 79 430 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72347372 72347372 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr18:72347372C>T ENST00000299687.5 + 1 4397 c.4397C>T c.(4396-4398)gCc>gTc p.A1466V ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CTGGCTAGTGCCGGCCACATG 0.498000 4 77 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142572369 142572369 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:142572369G>A ENST00000359396.3 - 11 1572 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 443 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CTGATGAGCCGCATCACCATG 0.607000 4 119 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161147009 161147009 + RNA SNP A A G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:161147009A>G ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 CCGAATCAGGATGTTGACCTT 0.438000 5 483 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139360714 139360714 + Splice_Site SNP A A G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr9:139360714A>G ENST00000313050.7 - 5 4202 c.e5+1 SEC16A_ENST00000431893.2_Splice_Site|SEC16A_ENST00000371706.3_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GCCGCCGCGTACCTGGTGCGA 0.622000 5 41 0 0 1 0 0 KRTAP5-2 440021 broad.mit.edu 37 11 1619378 1619378 + Missense_Mutation SNP G G A rs138454470 byFrequency TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:1619378G>A ENST00000412090.1 - 1 146 c.103C>T c.(103-105)Cgt>Tgt p.R35C KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 35 keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGCCCCCACGGCCGGAGCCA 0.687000 6 257 0 0 1 0 0 CD55 1604 broad.mit.edu 37 1 207532957 207532957 + Silent SNP C C A rs56147367 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:207532957C>A ENST00000314754.8 + 11 1331 c.1266C>A c.(1264-1266)gcC>gcA p.A422A CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367062.4_3'UTR|CD55_ENST00000391920.4_3'UTR|CD55_ENST00000391921.4_3'UTR|CD55_ENST00000367065.5_Silent_p.A421A|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367064.3_3'UTR NM_001114752.1 NP_001108224.1 P08174 DAF_HUMAN CD55 molecule, decay accelerating factor for complement (Cromer blood group) 0 complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) CTGACTTAGCCAAAGAAGAGT 0.348000 4 264 0.000602214 0.000612364 1 1 0 STRADB 55437 broad.mit.edu 37 2 202337718 202337718 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:202337718G>A ENST00000194530.3 + 5 599 c.234G>A c.(232-234)cgG>cgA p.R78R STRADB_ENST00000392249.2_Silent_p.R78R NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 78 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity p.R78R(2) breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 ATCTTGCACGGCATACTCCCA 0.353000 7 541 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90421896 90421896 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr6:90421896C>T ENST00000369393.3 - 49 7625 c.7510G>A c.(7510-7512)Gaa>Aaa p.E2504K MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2504 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.E2504K(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTATTCACTTCGACTGCATTG 0.408000 9 675 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175331865 175331865 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:175331865C>T ENST00000367674.1 - 14 3496 c.2788G>A c.(2788-2790)Gaa>Aaa p.E930K TNR_ENST00000263525.2_Missense_Mutation_p.E930K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 930 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.E930K(2) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGGCTGATTTCGTATTCGGTA 0.532000 115 345 0 0 1 0 0 MLK4 0 broad.mit.edu 37 1 233511709 233511709 + Nonsense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:233511709C>T ENST00000366624.3 + 7 1984 c.1723C>T c.(1723-1725)Cga>Tga p.R575* MLK4_ENST00000366622.1_Nonsense_Mutation_p.R21* NM_032435.2 NP_115811.2 p.R575*(3) CACAGTCTTTCGACAAGAAGA 0.318000 32 248 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30723277 30723277 + Missense_Mutation SNP C C G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:30723277C>G ENST00000262518.4 + 12 1999 c.1614C>G c.(1612-1614)agC>agG p.S538R SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 538 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AATCACAGAGCCAAGCAGATG 0.498000 33 274 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167182058 167182058 + Translation_Start_Site SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:167182058G>A ENST00000519204.1 + 0 118 TENM2_ENST00000518659.1_Intron|TENM2_ENST00000520393.1_Intron|TENM2_ENST00000520394.1_De_novo_Start_InFrame|TENM2_ENST00000545108.1_Intron teneurin transmembrane protein 2 AGCTTACGCCGATGGTGAGCC 0.532000 44 586 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50223420 50223420 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr15:50223420C>T ENST00000284509.6 - 16 1679 c.1538G>A c.(1537-1539)cGg>cAg p.R513Q ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 513 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTCTGGGGTCCGGGATTTAAA 0.398000 41 298 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7696378 7696378 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:7696378G>A ENST00000572933.1 + 48 8884 c.7424G>A c.(7423-7425)gGc>gAc p.G2475D DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2475 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.G2475D(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCATTCGGGGGCAAAAGCATG 0.512000 7 397 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50946068 50946068 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr10:50946068G>A ENST00000374103.4 - 19 2527 c.2442C>T c.(2440-2442)atC>atT p.I814I OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000432695.1_Silent_p.I605I|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 814 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AGTTGACCACGATCCAGTTGC 0.622000 48 1019 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566499 4566499 + Missense_Mutation SNP G G A rs138278883 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:4566499G>A ENST00000360213.1 + 1 79 c.79G>A c.(79-81)Gtc>Atc p.V27I NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCCCTACACGTCTGGCTCTC 0.542000 6 257 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977409 29977409 + RNA SNP T T C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr6:29977409T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGCAAAGGCATCTGAATGTGT 0.512000 4 86 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 7 480 0 0 1 0 0 SPTLC1 10558 broad.mit.edu 37 9 94794825 94794825 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr9:94794825G>A ENST00000262554.2 - 15 1349 c.1344C>T c.(1342-1344)gtC>gtT p.V448V NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 448 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GTTCCACCGTGACCACAACCC 0.567000 37 320 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184931519 184931519 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr4:184931519G>A ENST00000308497.4 + 3 2963 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K STOX2_ENST00000438269.1_Missense_Mutation_p.E510K NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 510 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) AGGGACGCCGGAAGACCTTGC 0.547000 12 58 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 6 583 3.09899e-07 3.26114e-07 1 1 0 CSF2RA 0 broad.mit.edu 37 X 1422850 1422850 + Silent SNP T T C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chrX:1422850T>C ENST00000381524.3 + 11 1167 c.981T>C c.(979-981)atT>atC p.I327I CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000361536.3_Intron P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 327 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CTGTGTACATTTATGTGCTCC 0.498000 7 1261 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 6 359 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6926610 6926610 + Silent SNP T T C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:6926610T>C ENST00000312053.4 + 16 2257 c.2220T>C c.(2218-2220)aaT>aaC p.N740N EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000450315.3_Silent_p.N563N|EMR1_ENST00000250572.8_Silent_p.N675N|EMR1_ENST00000381404.4_Silent_p.N688N NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 740 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GAATGCATAATCGGTGAGTGA 0.502000 7 371 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 5 308 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276168 186276168 + Silent SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:186276168C>T ENST00000445192.2 + 7 1362 c.1317C>T c.(1315-1317)acC>acT p.T439T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 439 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGAAGC 0.657000 7 423 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176649 223176649 + Missense_Mutation SNP C C T rs148231227 by1000genomes TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:223176649C>T ENST00000284476.6 + 8 2074 c.1910C>T c.(1909-1911)gCg>gTg p.A637V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 637 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity p.A637V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GGGGTTTATGCGGGGACAGCT 0.448000 6 786 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 6 70 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 9 960 0 0 1 0 0 JUNB 3726 broad.mit.edu 37 19 12902601 12902601 + Nonsense_Mutation SNP G G T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:12902601G>T ENST00000302754.4 + 1 292 c.16G>T c.(16-18)Gaa>Taa p.E6* NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 6 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 CACTAAAATGGAACAGCCCTT 0.662000 5 93 1.23904e-05 1.27424e-05 1 1 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 7 616 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940318 82940318 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:82940318G>A ENST00000274341.4 - 4 1489 c.639C>T c.(637-639)ggC>ggT p.G213G NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 213 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) ATTGCACAGAGCCATCACTGA 0.587000 26 307 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49416473 49416473 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:49416473G>A ENST00000301067.7 - 51 16237 c.16238C>T c.(16237-16239)gCa>gTa p.A5413V NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTCCTTGGCTGCATAGAGCCC 0.552000 7 736 0 0 1 0 0 FASTKD1 79675 broad.mit.edu 37 2 170428438 170428438 + Missense_Mutation SNP G G C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:170428438G>C ENST00000453153.2 - 2 448 c.102C>G c.(100-102)atC>atG p.I34M FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 34 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 GTTCACAACTGATGGGTCGAA 0.358000 25 292 0 0 1 0 0 CRKL 1399 broad.mit.edu 37 22 21288172 21288172 + Silent SNP C C A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr22:21288172C>A ENST00000354336.3 + 2 926 c.417C>A c.(415-417)gcC>gcA p.A139A NM_005207.3 NP_005198.1 P46109 CRKL_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog-like 139 SH3 1. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7) 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) GGAATGATGCCGAAGACCTGC 0.502000 26 386 3.7963e-18 4.13934e-18 1 1 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 6 644 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30020212 30020212 + Nonsense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr15:30020212G>A ENST00000346128.6 - 16 2503 c.2029C>T c.(2029-2031)Cga>Tga p.R677* TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677* NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 677 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CCAGCGTCTCGTGGTTCACTC 0.393000 31 255 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7099798 7099798 + Missense_Mutation SNP G G C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:7099798G>C ENST00000399510.2 - 12 2161 c.1309C>G c.(1309-1311)Cca>Gca p.P437A DLG4_ENST00000302955.6_Missense_Mutation_p.P391A|DLG4_ENST00000399506.2_Missense_Mutation_p.P394A NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 394 SH3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GTACCTTCTGGTTTATACTGA 0.547000 38 195 0 0 1 0 0 IL23R 149233 broad.mit.edu 37 1 67724439 67724439 + Silent SNP C C G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:67724439C>G ENST00000347310.5 + 11 1689 c.1518C>G c.(1516-1518)tcC>tcG p.S506S IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 506 inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 AAATTACTTCCTTAACACTTA 0.353000 12 237 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 9 614 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184932370 184932370 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr4:184932370G>A ENST00000308497.4 + 3 3814 c.2379G>A c.(2377-2379)gaG>gaA p.E793E STOX2_ENST00000438269.1_Silent_p.E793E NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 793 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CAGAGGAGGAGAAAAATAGAG 0.498000 6 55 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105361169 105361169 + Silent SNP A A C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr14:105361169A>C ENST00000453495.1 + 19 4875 c.4647A>C c.(4645-4647)tcA>tcC p.S1549S CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000556508.1_Silent_p.S1478S centrosomal protein 170B p.S1513S(3)|p.S1479S(3)|p.S1478S(1) GCCCACCCTCACCCGCCTCAG 0.711000 11 79 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033513 30033513 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:30033513C>T ENST00000328224.6 - 2 1946 c.713G>A c.(712-714)gGa>gAa p.G238E NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 238 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CAGGCGGCCTCCTGATTGATA 0.483000 52 674 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 19 88 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021099 5021099 + Silent SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:5021099C>T ENST00000382545.3 + 2 1662 c.555C>T c.(553-555)tgC>tgT p.C185C KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 185 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCATCTTTTGCCTGGAGACGC 0.582000 5 343 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74014618 74014618 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:74014618C>T ENST00000301607.3 - 12 1601 c.1348G>A c.(1348-1350)Gtg>Atg p.V450M EVPL_ENST00000586740.1_Missense_Mutation_p.V450M NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 450 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGGCCCTGCACGACCCAGGCG 0.662000 13 66 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100692136 100692136 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:100692136G>A ENST00000306151.4 + 5 12610 c.12546G>A c.(12544-12546)gaG>gaA p.E4182E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4182 SEA. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCCACCGGAGACTATCTCTG 0.522000 27 361 0 0 1 0 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861564 27861564 + Silent SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr6:27861564C>T ENST00000303806.4 + 1 362 c.324C>T c.(322-324)gcC>gcT p.A108A NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 108 nucleosome assembly nucleosome|nucleus DNA binding GGGAGCTGGCCAAGCACGCCG 0.637000 7 367 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 99 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25051001 25051001 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:25051001G>A ENST00000260600.5 - 13 3053 c.2202C>T c.(2200-2202)ccC>ccT p.P734P ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 734 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TTGCATTGCTGGGTCCCGTGT 0.602000 OREG0014498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 161 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169529961 169529961 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:169529961G>A ENST00000367796.3 - 4 618 c.417C>T c.(415-417)gaC>gaT p.D139D F5_ENST00000367797.3_Silent_p.D139D|F5_ENST00000546081.1_Silent_p.D2D P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 139 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCACAGCGTCGTCCATCTTCT 0.517000 16 471 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 8 637 0 0 1 0 0 GSDMD 79792 broad.mit.edu 37 8 144645015 144645015 + Missense_Mutation SNP A A T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:144645015A>T ENST00000526406.1 + 14 2279 c.1396A>T c.(1396-1398)Atg>Ttg p.M466L GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L|GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 466 SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 CCAGGGCCGCATGTGTGCACT 0.687000 11 91 0 0 1 0 0 RPA1 6117 broad.mit.edu 37 17 1792037 1792037 + Silent SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:1792037C>T ENST00000254719.5 + 14 1553 c.1443C>T c.(1441-1443)tgC>tgT p.C481C NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 481 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 ACCAAGCCTGCCCGACTCAGG 0.483000 Nucleotide excision repair (NER) 5 326 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402643 248402643 + Missense_Mutation SNP C C T rs144805988 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:248402643C>T ENST00000306687.1 + 1 413 c.413C>T c.(412-414)cCg>cTg p.P138L NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P138L(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTCATGAATCCGAAACTCTGT 0.483000 73 349 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44060812 44060812 + Silent SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:44060812C>T ENST00000344290.5 + 6 964 c.642C>T c.(640-642)agC>agT p.S214S MAPT_ENST00000340799.5_Intron|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Silent_p.S214S|MAPT_ENST00000571987.1_Silent_p.S214S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000570299.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 214 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GGCCGGGGAGCAAGGAGGAGG 0.687000 6 72 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 4 156 0 0 1 0 0 DDHD2 23259 broad.mit.edu 37 8 38107250 38107250 + Missense_Mutation SNP C C G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:38107250C>G ENST00000397166.2 + 11 1798 c.1273C>G c.(1273-1275)Cag>Gag p.Q425E DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 425 SAM. lipid catabolic process centrosome hydrolase activity|metal ion binding p.Q425K(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) CCGAGATCTTCAGGAAATAGG 0.368000 13 125 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154116 22154116 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:22154116G>A ENST00000397126.4 - 4 3868 c.3720C>T c.(3718-3720)ctC>ctT p.L1240L ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TATGTTTAGTGAGGATTGAGA 0.388000 5 410 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561268 11561268 + Missense_Mutation SNP T T G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:11561268T>G ENST00000294484.6 + 2 357 c.219T>G c.(217-219)tgT>tgG p.C73W PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 73 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ATCCGTGCTGTGCTGGGCTGG 0.627000 10 291 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48584787 48584787 + Nonsense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr18:48584787C>T ENST00000342988.3 + 7 1403 c.865C>T c.(865-867)Cag>Tag p.Q289* SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*|SMAD4_ENST00000588745.1_Intron NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 289 SAD. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.Q289*(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CGGCCATCTTCAGCACCACCC 0.463000 21 362 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393494.2_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 6 178 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109367844 109367844 + Missense_Mutation SNP T T G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:109367844T>G ENST00000283195.6 + 10 1524 c.1398T>G c.(1396-1398)caT>caG p.H466Q NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 466 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding p.H466Q(6) RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTTGCCCCATGAAACCTCAA 0.358000 8 1479 0 0 1 0 0 NUP50 10762 broad.mit.edu 37 22 45580351 45580351 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr22:45580351G>A ENST00000347635.3 + 8 1688 c.1222G>A c.(1222-1224)Gtt>Att p.V408I NUP50_ENST00000425733.2_Missense_Mutation_p.V158I|NUP50_ENST00000396096.2_Missense_Mutation_p.V380I|NUP50_ENST00000407019.2_Missense_Mutation_p.V380I NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 408 RanBD1. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) ATTGCTGAACGTTCTGATTCC 0.393000 21 241 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885651 39885651 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr15:39885651G>A ENST00000260356.5 + 19 3214 c.3049G>A c.(3049-3051)Gaa>Aaa p.E1017K NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1017 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CATCAACACCGAAAGGGACGA 0.493000 7 1277 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 6 655 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149431136 149431136 + Nonstop_Mutation SNP A A G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:149431136A>G ENST00000255992.10 + 18 3489 c.3090A>G c.(3088-3090)tgA>tgG p.*1030W KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Nonstop_Mutation_p.*970W NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 0 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGCGCATTGATGGCATTCCT 0.662000 5 75 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 5 349 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21562295 21562295 + Missense_Mutation SNP G G T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr13:21562295G>T ENST00000382592.4 - 4 2029 c.1624C>A c.(1624-1626)Cag>Aag p.Q542K LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 542 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CGGAGGCTCTGCTCCATGCCT 0.657000 41 295 7.05121e-23 7.78213e-23 1 1 0 MFHAS1 9258 broad.mit.edu 37 8 8748773 8748773 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:8748773G>A ENST00000276282.6 - 1 2382 c.1796C>T c.(1795-1797)tCg>tTg p.S599L NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 599 Roc. endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GTTCTTGTCCGAAACGCCATA 0.642000 5 247 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578433 7578433 + Nonsense_Mutation SNP G G T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:7578433G>T ENST00000420246.2 - 5 629 c.497C>A c.(496-498)tCa>tAa p.S166* TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 166 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGTGCTGTGACTGCTTGTA 0.632000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 56 223 5.5144e-22 6.04913e-22 1 1 0 ATP2B2 491 broad.mit.edu 37 3 10443850 10443850 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:10443850C>T ENST00000397077.1 - 6 1155 c.580G>A c.(580-582)Gtg>Atg p.V194M ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 194 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GCCCGGACCACGGTAAATTTC 0.567000 51 732 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131471825 131471825 + Missense_Mutation SNP G G T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:131471825G>T ENST00000261654.5 + 6 1235 c.676G>T c.(676-678)Gat>Tat p.D226Y GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 226 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CGGTGCTTTCGATGAGTTCAT 0.542000 9 383 1.58986e-06 1.64437e-06 1 1 0 SDK1 221935 broad.mit.edu 37 7 4259748 4259748 + Missense_Mutation SNP C C G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:4259748C>G ENST00000404826.2 + 39 5686 c.5547C>G c.(5545-5547)agC>agG p.S1849R SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1849 Fibronectin type-III 12. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAGGGGTGAGCAAGGTGGTGA 0.572000 12 296 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14562025 14562025 + RNA SNP C C T rs115834067 by1000genomes TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:14562025C>T ENST00000273083.3 - 0 797 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TCAAGGGTCCCGAAGCATTAG 0.527000 4 186 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807517 20807517 + Missense_Mutation SNP A A C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:20807517A>C ENST00000601440.1 - 4 1312 c.1166T>G c.(1165-1167)aTa>aGa p.I389R CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AGTATGAATTATCTTATGCGT 0.383000 6 571 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83891489 83891489 + Silent SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr4:83891489C>T ENST00000340417.3 - 4 1319 c.942G>A c.(940-942)tcG>tcA p.S314S LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000446851.2_Silent_p.S93S|LIN54_ENST00000442461.2_Silent_p.S93S|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000510557.1_Silent_p.S93S|LIN54_ENST00000505397.1_Silent_p.S314S NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 314 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) CCTTATTTGGCGATTTCAAAG 0.308000 5 465 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276861 71276861 + Silent SNP T T C rs36179995 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:71276861T>C ENST00000398531.1 + 1 253 c.228T>C c.(226-228)tcT>tcC p.S76S KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 76 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 ACTGTGGCTCTTGTGGGGGCT 0.677000 5 528 0 0 1 0 0 GMDS 2762 broad.mit.edu 37 6 2116094 2116094 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr6:2116094C>T ENST00000380815.4 - 4 525 c.256G>A c.(256-258)Gat>Aat p.D86N GMDS_ENST00000530927.1_Missense_Mutation_p.D56N NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 86 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) TCAGTGAGATCGCCATAGTGC 0.383000 26 331 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15835859 15835859 + Missense_Mutation SNP C C G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr4:15835859C>G ENST00000226279.2 + 4 656 c.519C>G c.(517-519)tgC>tgG p.C173W NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 173 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 ATCAATCTTGCCCAGACTGGA 0.398000 5 306 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907303 153907303 + Silent SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:153907303C>T ENST00000361217.4 - 18 3124 c.2706G>A c.(2704-2706)caG>caA p.Q902Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 902 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgttgctgct 0.642000 5 277 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 5 416 0 0 1 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54675182 54675182 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:54675182C>T ENST00000546500.1 + 2 643 c.28C>T c.(28-30)Ccc>Tcc p.P10S HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P10S|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 10 Globular A domain. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 TCCTAAAGAGCCCGAACAGCT 0.488000 58 362 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595189 36595189 + Missense_Mutation SNP G G A rs4151026 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:36595189G>A ENST00000299440.5 + 2 447 c.335G>A c.(334-336)cGc>cAc p.R112H NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 112 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.R112L(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CATCTCTGCCGCATCTGTGGG 0.453000 Familial Hemophagocytic Lymphohistiocytosis 9 406 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16910925 16910925 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:16910925C>T ENST00000524140.2 + 17 4106 c.3688C>T c.(3688-3690)Ccc>Tcc p.P1230S NWD1_ENST00000552788.1_Missense_Mutation_p.P1230S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S|NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1230 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CGTCTACTTCCCCAAAATTGG 0.512000 80 425 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22117217 22117217 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chrX:22117217G>A ENST00000379374.4 + 9 1592 c.1027G>A c.(1027-1029)Gtc>Atc p.V343I PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.V246I|PHEX_ENST00000418858.3_Missense_Mutation_p.V46I|PHEX_ENST00000537599.1_Missense_Mutation_p.V343I NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 343 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 GGTGGTCCGCGTCCCGCAGTA 0.443000 41 286 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763870 77763870 + Missense_Mutation SNP A A T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:77763870A>T ENST00000521891.2 + 10 5161 c.4713A>T c.(4711-4713)aaA>aaT p.K1571N ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1526 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCTGAAAAAAGTTTTGCAGG 0.413000 HNSCC(33;0.089) 10 132 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140554386 140554386 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:140554386C>T ENST00000231137.3 + 1 2144 c.1970C>T c.(1969-1971)aCg>aTg p.T657M NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 657 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T657M(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCACCGCCACGCTGCACGTG 0.706000 15 655 0 0 1 0 0 SPARCL1 8404 broad.mit.edu 37 4 88412840 88412840 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr4:88412840G>A ENST00000418378.1 - 6 1792 c.1221C>T c.(1219-1221)gcC>gcT p.A407A SPARCL1_ENST00000503414.1_Silent_p.A282A|SPARCL1_ENST00000282470.6_Silent_p.A407A NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 407 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) CTGCTTTCTTGGCCTTTAGAA 0.393000 35 240 0 0 1 0 0 PHB 5245 broad.mit.edu 37 17 47482526 47482526 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:47482526C>T ENST00000300408.3 - 7 719 c.647G>A c.(646-648)gGc>gAc p.G216D RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron NM_002634.2 NP_002625.1 P35232 PHB_HUMAN prohibitin 216 cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis integral to plasma membrane|mitochondrial inner membrane|nucleoplasm histone deacetylase binding|transcription regulatory region DNA binding endometrium(4)|large_intestine(2)|lung(4) 10 all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18) Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) CTTGGAGTCGCCCTCAGCAGA 0.562000 15 115 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20355441 20355441 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:20355441G>A ENST00000396134.2 - 7 1458 c.1335C>T c.(1333-1335)atC>atT p.I445I UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000424589.1_Silent_p.I445I|UMOD_ENST00000302509.4_Silent_p.I412I|UMOD_ENST00000396142.2_Silent_p.I412I|UMOD_ENST00000570689.1_Silent_p.I412I NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 412 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CACGGATGATGATCTCATCTG 0.537000 18 256 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593386 1593386 + RNA SNP A A C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:1593386A>C ENST00000436493.2 - 0 239 CTGGCCATTCACGTGCCTCAG 0.597000 5 218 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228525760 228525760 + Missense_Mutation SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:228525760G>A ENST00000570156.2 + 78 19861 c.19787G>A c.(19786-19788)cGc>cAc p.R6596H OBSCN_ENST00000422127.1_Missense_Mutation_p.R5639H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5639 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACCCACTGCGCTGGCTTGTC 0.642000 7 120 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122929855 122929855 + Missense_Mutation SNP A A G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:122929855A>G ENST00000534624.1 - 6 1511 c.1235T>C c.(1234-1236)gTc>gCc p.V412A HSPA8_ENST00000532636.1_Missense_Mutation_p.V412A|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 412 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTTGATGAGGACAGTCATGAC 0.453000 4 285 0 0 1 0 0 WRAP73 49856 broad.mit.edu 37 1 3549997 3549998 + Frame_Shift_Ins INS - - C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:3549997_3549998insC ENST00000378322.3 - 9 944_945 c.886_887insG c.(886-888)cggfs p.R296fs WRAP73_ENST00000270708.7_Frame_Shift_Ins_p.R296fs Q9P2S5 WRP73_HUMAN WD repeat containing, antisense to TP73 296 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 gccggccccggcccggggcggc 0.569 8 174 --- --- --- --- MST1L 0 broad.mit.edu 37 1 17084791 17084791 + RNA DEL A A - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:17084791delA ENST00000455405.2 - 0 228 GGCCCTGCCTAGAGGAGTGGG 0.582 8 56 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 7 733 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 13 819 --- --- --- --- C1orf168 199920 broad.mit.edu 37 1 57192199 57192199 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:57192199delT ENST00000343433.6 - 16 1931 c.1851delA c.(1849-1851)aafs p.K617fs NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 617 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CGTTTTTCTCTTTTTTTTCCT 0.373 7 492 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 7 855 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 7 469 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 7 1027 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 7 61 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 5 10 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 11 303 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 8 745 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 26 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 7 83 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 9 107 --- --- --- --- DYNC1LI1 51143 broad.mit.edu 37 3 32571050 32571050 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:32571050delT ENST00000273130.4 - 11 1391 c.1288delA c.(1288-1290)ttfs p.I430fs DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 430 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 TTTGGATCAATTTTTTTTGAC 0.398 7 160 --- --- --- --- PDCD6IP 10015 broad.mit.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:33866811delT ENST00000307296.3 + 5 972 c.595delT c.(595-597)ttfs p.F200fs PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 200 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCAAGAAGTATTTTTTTTAAA 0.368 7 455 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38162039 38162040 + Frame_Shift_Del DEL GA GA - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:38162039_38162040delGA ENST00000308059.6 + 34 4826_4827 c.4805_4806delGA c.(4804-4806)gfs p.G1602fs DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs|DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1602 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGTGCGAGTGGAGAGAGAGAGA 0.579 8 261 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 9 991 --- --- --- --- NRROS 375387 broad.mit.edu 37 3 196386910 196386910 + Frame_Shift_Del DEL G G - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr3:196386910delG ENST00000328557.4 + 3 599 c.396delG c.(394-396)ccfs p.P132fs NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species ACGCCCTGCCGGGCCTGCGGA 0.672 13 169 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 11 554 --- --- --- --- WDR70 55100 broad.mit.edu 37 5 37396622 37396624 + In_Frame_Del DEL GAA GAA - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:37396622_37396624delGAA ENST00000265107.4 + 5 598_600 c.442_444delGAA c.(442-444)del p.E152del WDR70_ENST00000504564.1_In_Frame_Del_p.E152del NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 152 Glu-rich. central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACCTCTTAATgaagaagaagaag 0.394 7 293 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 7 996 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 11 900 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801684 137801686 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:137801684_137801686delCAG ENST00000239938.4 + 1 506_508 c.234_236delCAG c.(232-237)aac>aa p.NS78del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 78 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.724 7 134 --- --- --- --- PCDHA9 0 broad.mit.edu 37 5 140230589 140230590 + Frame_Shift_Ins INS - - T rs17844337 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:140230589_140230590insT ENST00000378122.3 + 1 3233_3234 c.2509_2510insT c.(2509-2511)tttfs p.F837fs PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATCCAGCAGATTTTTTTTCTG 0.282 7 1381 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 7 619 --- --- --- --- ZNRD1-AS1 0 broad.mit.edu 37 6 29977389 29977393 + RNA DEL CTTCT CTTCT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr6:29977389_29977393delCTTCT ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA AGAACCCTGACTTCTCTTTCTGCAA 0.488 35 157 --- --- --- --- CCHCR1 54535 broad.mit.edu 37 6 31110764 31110766 + In_Frame_Del DEL CTG CTG - rs140560656 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr6:31110764_31110766delCTG ENST00000396268.3 - 17 2653_2655 c.2465_2467delCAG c.(2464-2469)gtg>g p.AV822del CCHCR1_ENST00000451521.2_In_Frame_Del_p.AV786del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.AV680del|CCHCR1_ENST00000376266.5_In_Frame_Del_p.AV733del NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 733 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 CTGGTGGGCACTGCTGCTGCTAC 0.532 7 2008 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 9 835 --- --- --- --- GARS 2617 broad.mit.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:30634583_30634585delCTG ENST00000389266.3 + 1 287_289 c.46_48delCTG c.(46-48)del p.L20del NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 20 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TCGCGCCGCTCTGCTGCTGCTGC 0.749 8 62 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 14 574 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 9 635 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62751956 62751957 + RNA INS - - C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:62751956_62751957insC ENST00000331425.6 - 0 1478_1479 NR_003952.1 CTTGAATGCCACTTAAAAGCTT 0.391 34 547 --- --- --- --- VKORC1L1 154807 broad.mit.edu 37 7 65419353 65419354 + In_Frame_Ins INS - - TTA rs71982071 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:65419353_65419354insTTA ENST00000434382.2 + 2 490_491 c.487_488insTTA c.(487-489)tat>TTAtat p.162_163insL VKORC1L1_ENST00000360768.3_3'UTR Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 0 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) GCAGCAGGTTTttattattatt 0.416 8 42 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040750 72040751 + RNA INS - - A rs72347331 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:72040750_72040751insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATCCCTAGAAAAAAAAAAT 0.332 7 128 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 8 316 --- --- --- --- SLC4A2 6522 broad.mit.edu 37 7 150772809 150772810 + Frame_Shift_Ins INS - - A rs139739553 byFrequency TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr7:150772809_150772810insA ENST00000485713.1 + 21 4458_4459 c.3418_3419insA c.(3418-3420)tctfs p.S1140fs SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.S1126fs|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.S1140fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.S1131fs|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.S1058fs|RP11-148K1.12_ENST00000485974.1_RNA NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1140 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGAGCGGCTGCATCTGCTGCTC 0.599 36 386 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T rs34047276 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:6378797_6378798insT ENST00000325203.5 - 4 1174_1175 c.700_701insA c.(700-702)agtfs p.S234fs ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs O15123 ANGP2_HUMAN angiopoietin 2 234 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GGCAGTCACTATTTTTTTTTCT 0.366 7 383 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 11 328 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 8 829 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 9 1528 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 7 216 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974777 21974780 + Frame_Shift_Del DEL GCCA GCCA - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr9:21974777_21974780delGCCA ENST00000304494.5 - 1 317_320 c.47_50delTGGC c.(46-51)ccfs p.LA16fs CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 16 L -> P (in a biliary tract tumor and a familial melanoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGCGGCCGTGGCCAGCCAGTCAGC 0.755 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 30 179 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 8 516 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 10 17 --- --- --- --- HELLS 3070 broad.mit.edu 37 10 96331163 96331163 + Frame_Shift_Del DEL A A - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr10:96331163delA ENST00000348459.5 + 7 559 c.454delA c.(454-456)aafs p.K153fs HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394036.1_Stop_Codon_Del NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 153 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GTCTGTGGCTAAAAAAAATAA 0.254 7 241 --- --- --- --- PDZD7 79955 broad.mit.edu 37 10 102789811 102789811 + Frame_Shift_Del DEL G G - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr10:102789811delG ENST00000370215.3 - 2 391 c.166delC c.(166-168)gcfs p.R56fs PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 56 cilium|nucleus protein binding p.R56C(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CGGATTCCGCGGGGGGGCCCG 0.667 7 483 --- --- --- --- HMX2 3167 broad.mit.edu 37 10 124908058 124908064 + Frame_Shift_Del DEL AGCCGGA AGCCGGA - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr10:124908058_124908064delAGCCGGA ENST00000339992.3 + 1 421_427 c.164_170delAGCCGGA c.(163-171)gcfs p.EPD55fs NM_005519.1 NP_005510.1 A2RU54 HMX2_HUMAN H6 family homeobox 2 55 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) GAGGAGGAGGAGCCGGACGACGGCTGG 0.710 18 128 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 7 774 --- --- --- --- SWAP70 23075 broad.mit.edu 37 11 9735070 9735070 + Frame_Shift_Del DEL A A - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:9735070delA ENST00000318950.6 + 3 401 c.298delA c.(298-300)aafs p.K101fs SWAP70_ENST00000447399.2_Intron NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 101 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) CCTCTGTGTCAAAAAAAACCT 0.343 7 410 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 11 685 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 11 342 --- --- --- --- CD3G 917 broad.mit.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:118220583delA ENST00000532917.1 + 3 273 c.205delA c.(205-207)aafs p.K71fs CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 71 Ig-like. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AACTGAAGATAAAAAAAAATG 0.403 11 365 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 9 134 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 12 276 --- --- --- --- GPR19 2842 broad.mit.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:12814274delT ENST00000540510.1 - 2 1301 c.1109delA c.(1108-1110)acfs p.N370fs GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs Q15760 GPR19_HUMAN G protein-coupled receptor 19 370 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GCCAACGTAGTTTTTTTTGGC 0.398 10 806 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 25 1543 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559127 56559128 + Frame_Shift_Ins INS - - G TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr12:56559127_56559128insG ENST00000394023.3 - 27 3311_3312 c.3206_3207insC c.(3205-3207)cggfs p.R1069fs SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1038 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GGGGAACCCCTGGTGGGACTGC 0.584 10 304 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671804 25671806 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr13:25671804_25671806delGCT ENST00000281589.3 + 1 1505_1507 c.1468_1470delGCT c.(1468-1470)del p.A496del NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 496 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ACGTCctgcagctgctgctgctg 0.532 9 292 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr13:33344888delA ENST00000315596.10 + 33 4347 c.4161delA c.(4159-4161)ccfs p.P1387fs NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1387 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.N1390fs*4(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CATCACAACCAAAAAAAAATG 0.338 8 92 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 11 1079 --- --- --- --- RP11-394A14.2 0 broad.mit.edu 37 13 64407210 64407211 + RNA INS - - TACTGTCAG TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr13:64407210_64407211insTACTGTCAG ENST00000607822.1 - 0 2159 AGACCTTTATATAATTGCCAAA 0.366 7 636 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 12 227 --- --- --- --- ERCC5 2073 broad.mit.edu 37 13 103524612 103524612 + Frame_Shift_Del DEL A A - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr13:103524612delA ENST00000355739.4 + 13 4166 c.2743delA c.(2743-2745)aafs p.K917fs BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CACCAAAGTGAAAAAAAAATT 0.428 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 285 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32586406 32586406 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr14:32586406delT ENST00000345122.3 + 3 4093 c.3778delT c.(3778-3780)ttfs p.F1260fs ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.F1260fs|ARHGAP5_ENST00000433497.1_5'UTR|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.F1259fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.F1259fs|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1260 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AAGTAATTACTTTGGGATGCC 0.343 111 394 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr14:45693722delT ENST00000310806.4 - 11 2526 c.2068delA c.(2068-2070)gtfs p.S690fs NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 690 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 CTGATGGGACTTTTTTTTTGA 0.373 17 528 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 15 648 --- --- --- --- PTPN21 11099 broad.mit.edu 37 14 88945628 88945630 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr14:88945628_88945630delTCC ENST00000556564.1 - 13 2429_2431 c.2145_2147delGGA c.(2143-2148)gac>ga p.ED717del PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 717 Poly-Glu. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GAAGTCCTCGTCCTCCTCCTCCT 0.704 8 212 --- --- --- --- TLN2 83660 broad.mit.edu 37 15 63076122 63076123 + Frame_Shift_Del DEL CA CA - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr15:63076122_63076123delCA ENST00000472902.1 + 9 1201_1202 c.948_949delCA c.(946-951)tgcafs p.CT316fs TLN2_ENST00000306829.6_Intron|TLN2_ENST00000561311.1_Intron Q9Y4G6 TLN2_HUMAN talin 2 0 FERM.|Interaction with PIP5K1C (By similarity). cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TTTTAAGATGCACACACACACT 0.554 7 351 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 7 631 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 8 3310 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 7 253 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 8 373 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 8 1262 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822564 72822566 + In_Frame_Del DEL TGC TGC - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:72822564_72822566delTGC ENST00000268489.5 - 10 10281_10283 c.9609_9611delGCA c.(9607-9612)caa>ca p.QQ3203del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3203 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cacctgtggttgctgctgctgct 0.650 9 589 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 7 371 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 7 141 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 7 1015 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCGCAAGTATAAGAAGAAGAAGA 0.488 8 234 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 9 378 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 16 1160 --- --- --- --- MKNK2 2872 broad.mit.edu 37 19 2041037 2041038 + Splice_Site INS - - C rs67677928 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:2041037_2041038insC ENST00000250896.3 - 12 1355 c.e12+1 MKNK2_ENST00000541165.1_Splice_Site|MKNK2_ENST00000309340.7_Splice_Site|MKNK2_ENST00000591588.1_Splice_Site|MKNK2_ENST00000591601.1_Splice_Site|MKNK2_ENST00000591142.1_Splice_Site|MKNK2_ENST00000588014.1_Splice_Site NM_199054.2 NP_951009.1 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGTACTCACCCCCTGAACC 0.668 8 407 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 15 565 --- --- --- --- PPP1R12C 54776 broad.mit.edu 37 19 55607462 55607462 + Frame_Shift_Del DEL C C - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr19:55607462delC ENST00000263433.3 - 8 1125 c.1110delG c.(1108-1110)ggfs p.G370fs PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 370 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GGATGGGGGGCCCCCCAGCCC 0.647 7 586 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-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 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 CATCATTtgttgctgctgctgct 0.576 7 433 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 8 554 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - rs76572304 TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr22:35661544delA ENST00000216106.5 + 5 1291 c.1163delA c.(1162-1164)gafs p.E388fs HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 388 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGGCATAGTGAaaaaaaaaag 0.493 7 225 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 7 354 --- --- --- --- UTY 7404 broad.mit.edu 37 Y 15448217 15448218 + Splice_Site INS - - A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f17f4584-79ab-476e-860d-9b99d4d45141 617be344-0a3d-4f77-bc31-6950e06229b6 g.chrY:15448217_15448218insA ENST00000331397.4 - 16 2778 c.e16-2 UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 ATGAAGCCCCTAAAAAAAAAAA 0.361 7 67 --- --- --- ---