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 C20orf26 26074 broad.mit.edu 37 20 20232251 20232251 + Silent SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr20:20232251T>C ENST00000245957.5 + 20 2248 c.2172T>C c.(2170-2172)aaT>aaC p.N724N C20orf26_ENST00000377293.1_Silent_p.N80N|C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000389656.3_Silent_p.N80N NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 724 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ACTGTTTTAATGATAAAGATT 0.488000 17 170 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104056648 104056648 + Missense_Mutation SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr12:104056648G>A ENST00000388887.2 + 18 2098 c.1894G>A c.(1894-1896)Gca>Aca p.A632T NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 632 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AAATGATGTGGCAATGGAAGA 0.458000 10 74 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825493 21825493 + RNA SNP C C T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr17:21825493C>T ENST00000426869.3 + 0 197 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) tgaaatgggccgactaggatg 0.647000 3 54 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162338 90162338 + RNA SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr16:90162338T>C ENST00000564451.1 + 0 1691 TUBB8P7_ENST00000567960.1_RNA GACATCCCACTCCGGGGGCTA 0.483000 4 156 0 0 1 0 0 TTL 150465 broad.mit.edu 37 2 113260504 113260504 + Silent SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr2:113260504G>A ENST00000233336.5 + 5 812 c.621G>A c.(619-621)gtG>gtA p.V207V NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 207 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) GGGTCTTGGTGGATCATCAGT 0.388000 T ETV6 ALL 13 39 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121942294 121942294 + Silent SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr7:121942294G>A ENST00000442488.2 - 4 1252 c.1185C>T c.(1183-1185)aaC>aaT p.N395N FEZF1_ENST00000427185.2_Silent_p.N345N|FEZF1_ENST00000331178.4_Silent_p.N391N NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 395 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GCTTCTTGTCGTTGTGGGTGT 0.547000 5 113 0 0 1 0 0 AVPR1A 0 broad.mit.edu 37 12 63544328 63544328 + Missense_Mutation SNP C C A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr12:63544328C>A ENST00000299178.2 - 1 394 c.289G>T c.(289-291)Gac>Tac p.D97Y NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 97 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) ACGGCCAGGTCGGCCAGGCTG 0.667000 8 20 1.12685e-05 1.19728e-05 1 1 0 COL4A2 1284 broad.mit.edu 37 13 110960470 110960470 + Splice_Site SNP G G C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr13:110960470G>C ENST00000360467.5 + 3 405 c.99_splice c.e3+1 p.A33_splice NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 33 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GCGTCTTGGCGGTAAGTCCTG 0.662000 12 37 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938184 14938184 + Silent SNP A A G TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr19:14938184A>G ENST00000322301.3 - 2 957 c.870T>C c.(868-870)taT>taC p.Y290Y OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y290Y(2) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 TCCTCAGACTATAGATAAAGG 0.478000 4 85 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871088 170871088 + Silent SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr6:170871088G>A ENST00000392092.2 + 3 543 c.264G>A c.(262-264)caG>caA p.Q88Q TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 88 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q88Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 3 38 0 0 1 0 0 EDN3 1908 broad.mit.edu 37 20 57876663 57876663 + Missense_Mutation SNP C C T rs142051051 byFrequency TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr20:57876663C>T ENST00000311585.7 + 2 621 c.251C>T c.(250-252)gCg>gTg p.A84V EDN3_ENST00000371028.2_Missense_Mutation_p.A84V|EDN3_ENST00000395654.3_Missense_Mutation_p.A84V|EDN3_ENST00000371025.3_Missense_Mutation_p.A84V|EDN3_ENST00000337938.2_Missense_Mutation_p.A84V NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 84 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity p.A84E(4) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) CAGGAGCAGGCGGCCGAGGGG 0.662000 27 66 0 0 1 0 0 HMGCS1 3157 broad.mit.edu 37 5 43296014 43296014 + Missense_Mutation SNP T T A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr5:43296014T>A ENST00000325110.6 - 6 951 c.745A>T c.(745-747)Aat>Tat p.N249Y HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 249 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 TCTTTATCATTTCCCTCTGAA 0.318000 4 59 0 0 1 0 0 MBP 4155 broad.mit.edu 37 18 74702002 74702002 + Silent SNP C C T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr18:74702002C>T ENST00000355994.2 - 5 854 c.591G>A c.(589-591)ccG>ccA p.P197P MBP_ENST00000397865.5_Silent_p.P64P|MBP_ENST00000397866.4_Silent_p.P64P|MBP_ENST00000397869.3_Silent_p.P64P|MBP_ENST00000580402.1_Silent_p.P197P|MBP_ENST00000526111.1_Silent_p.P42P|MBP_ENST00000397875.3_Silent_p.P64P|MBP_ENST00000528160.1_Intron|MBP_ENST00000579129.1_Silent_p.P197P|MBP_ENST00000578193.1_Silent_p.P64P|MBP_ENST00000527041.1_Silent_p.P64P|MBP_ENST00000354542.4_Intron|MBP_ENST00000382582.3_Silent_p.P90P|MBP_ENST00000359645.3_Silent_p.P90P NM_001025101.1 NP_001020272.1 P02686 MBP_HUMAN myelin basic protein 197 Induces experimental autoimmune encephalomyelitis (EAE) 1. central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) CAGTTCTTGCCGGGTGGTGTG 0.572000 4 26 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50370408 50370408 + Silent SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr19:50370408T>C ENST00000322344.3 - 2 163 c.54A>G c.(52-54)ggA>ggG p.G18G PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000600573.1_Silent_p.G18G NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 18 G -> E (in Ref. 1; AAD51135). DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) TGGGGGGCGCTCCCCCAGGGG 0.711000 Other BER factors 5 21 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr6:29977358T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 7 52 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 4 103 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114275609 114275609 + Silent SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr4:114275609G>A ENST00000357077.4 + 38 5888 c.5835G>A c.(5833-5835)acG>acA p.T1945T ANK2_ENST00000264366.6_Silent_p.T1912T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1912 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCGGAAGAACGGACAAGCACC 0.532000 26 57 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73914270 73914270 + Missense_Mutation SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr17:73914270G>A ENST00000586717.1 - 20 2450 c.2177C>T c.(2176-2178)gCg>gTg p.A726V FBF1_ENST00000389570.4_Missense_Mutation_p.A726V|FBF1_ENST00000319129.5_Missense_Mutation_p.A725V A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 725 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 ACTGGTGGCCGCATCGACCTC 0.682000 3 26 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119964584 119964584 + Missense_Mutation SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr1:119964584T>C ENST00000543831.1 + 4 709 c.460T>C c.(460-462)Tac>Cac p.Y154H HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 154 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GCCCACTCCATACCCGTACAG 0.507000 59 110 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 3 59 0.00024832 0.000253286 1 1 0 TBC1D9B 23061 broad.mit.edu 37 5 179296821 179296821 + Silent SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr5:179296821G>A ENST00000356834.3 - 17 2776 c.2739C>T c.(2737-2739)caC>caT p.H913H TBC1D9B_ENST00000444477.2_Silent_p.H71H|TBC1D9B_ENST00000355235.3_Silent_p.H913H|TBC1D9B_ENST00000519746.1_Silent_p.H89H NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 913 EF-hand. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAGGTCCCCGTGGTACATCC 0.637000 13 27 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 48 0 0 1 0 0 TRGV2 0 broad.mit.edu 37 7 38402925 38402925 + RNA SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr7:38402925T>C ENST00000426402.2 - 0 194 TAGGGCCCACTGCATGCCTTC 0.507000 4 65 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57372333 57372333 + Missense_Mutation SNP C C A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr6:57372333C>A ENST00000607273.1 + 8 826 c.739C>A c.(739-741)Cag>Aag p.Q247K PRIM2_ENST00000389488.2_3'UTR NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 247 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TGAAAGACTTCAGCCTCTGCT 0.403000 4 41 1.23904e-05 1.28961e-05 1 1 0 NXPE4 54827 broad.mit.edu 37 11 114450926 114450926 + Missense_Mutation SNP C C T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr11:114450926C>T ENST00000375478.3 - 5 1207 c.1027G>A c.(1027-1029)Gga>Aga p.G343R NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 ATGAGTTTTCCTCTCAGGCAT 0.443000 17 83 0 0 1 0 0 KLK12 43849 broad.mit.edu 37 19 51534119 51534119 + Nonsense_Mutation SNP G G T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr19:51534119G>T ENST00000250352.11 - 4 859 c.186C>A c.(184-186)tgC>tgA p.C62* KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|KLK12_ENST00000525263.1_Nonsense_Mutation_p.C172* Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 172 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) ACACACCATGGCAGGTGGCAT 0.622000 8 121 5.18039e-06 5.62128e-06 1 1 0 CAPN5 726 broad.mit.edu 37 11 76823690 76823690 + Missense_Mutation SNP C C T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr11:76823690C>T ENST00000278559.3 + 4 542 c.353C>T c.(352-354)gCg>gTg p.A118V CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V|CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 118 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 AACGCCTACGCGGGCATCTTC 0.612000 8 52 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41758339 41758339 + Missense_Mutation SNP A A G TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr19:41758339A>G ENST00000301178.4 + 15 1985 c.1795A>G c.(1795-1797)Agg>Ggg p.R599G AXL_ENST00000359092.3_Missense_Mutation_p.R590G|AXL_ENST00000593513.1_Missense_Mutation_p.R331G NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 599 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 CAACGTCATGAGGCTCATCGG 0.552000 5 36 0 0 1 0 0 SIPA1 6494 broad.mit.edu 37 11 65413798 65413798 + Missense_Mutation SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr11:65413798T>C ENST00000394224.3 + 7 1666 c.1370T>C c.(1369-1371)gTg>gCg p.V457A SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A|SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 457 Rap-GAP. cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 TTCCAGCACGTGTTCCTAGTG 0.642000 8 44 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86198925 86198925 + Missense_Mutation SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr12:86198925T>C ENST00000361228.3 - 2 1231 c.863A>G c.(862-864)gAa>gGa p.E288G NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 288 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TACCTCTTTTTCTATTTCAGC 0.398000 21 97 0 0 1 0 0 ZNF300P1 0 broad.mit.edu 37 5 150322149 150322149 + RNA SNP A A G TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr5:150322149A>G ENST00000520773.1 - 0 1335 CCAGCATCACATCCCTGTACA 0.502000 12 57 0 0 1 0 0 BMP4 652 broad.mit.edu 37 14 54416914 54416914 + Missense_Mutation SNP C C T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr14:54416914C>T ENST00000245451.4 - 4 1456 c.1063G>A c.(1063-1065)Gcc>Acc p.A355T BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|BMP4_ENST00000558984.1_Missense_Mutation_p.A355T|BMP4_ENST00000417573.1_Missense_Mutation_p.A355T NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 355 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 TGCACAATGGCATGGTTGGTT 0.547000 37 54 0 0 1 0 0 KRT27 342574 broad.mit.edu 37 17 38936677 38936677 + Missense_Mutation SNP C C T rs116334559 by1000genomes TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr17:38936677C>T ENST00000301656.3 - 3 599 c.559G>A c.(559-561)Gtg>Atg p.V187M NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 187 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity p.V187M(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) TCCGCCTCCACGCTCTGGTGA 0.468000 7 20 0 0 1 0 0 IGHJ5 0 broad.mit.edu 37 14 106330052 106330052 + RNA SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr14:106330052G>A ENST00000488476.1 - 0 20 GGGTTCCCTGGCCCCAGGGGT 0.617000 3 8 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr6:29977359G>A ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 7 50 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2537012 2537012 + Silent SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr1:2537012G>A ENST00000288709.6 - 9 1014 c.774C>T c.(772-774)ggC>ggT p.G258G MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Silent_p.G267G NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 267 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GGTTGCTGCCGCCGTTGAAGT 0.652000 4 45 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 4 110 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129775615 129775615 + Missense_Mutation SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr11:129775615G>A ENST00000358825.5 - 21 3428 c.3197C>T c.(3196-3198)aCg>aTg p.T1066M PRDM10_ENST00000304538.6_Missense_Mutation_p.T929M|PRDM10_ENST00000360871.3_Missense_Mutation_p.T1062M|PRDM10_ENST00000526082.1_Missense_Mutation_p.T980M|PRDM10_ENST00000423662.2_Missense_Mutation_p.T967M|PRDM10_ENST00000528746.1_Missense_Mutation_p.T1023M NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1053 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CGGAGGAAGCGTCATCATTTG 0.433000 11 38 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44669099 44669099 + Missense_Mutation SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr20:44669099G>A ENST00000454036.1 + 7 845 c.769G>A c.(769-771)Ggc>Agc p.G257S SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000372315.1_Missense_Mutation_p.G234S|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G234S NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 257 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCGTGTTTACGGCACCTGTGT 0.542000 35 121 0 0 1 0 0 MFGE8 4240 broad.mit.edu 37 15 89442668 89442668 + Nonsense_Mutation SNP C C T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr15:89442668C>T ENST00000539437.1 - 9 1234 c.1098G>A c.(1096-1098)tgG>tgA p.W366* MFGE8_ENST00000268151.7_Nonsense_Mutation_p.W322*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.W374*|MFGE8_ENST00000542878.1_Nonsense_Mutation_p.W330*|MFGE8_ENST00000566497.1_Nonsense_Mutation_p.W374* Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 374 F5/8 type C 2. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) TGCGGTTGTGCCAGGCTACAG 0.607000 4 99 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109347896 109347897 + Frame_Shift_Del DEL TT TT - TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr2:109347896_109347897delTT ENST00000283195.6 + 4 497_498 c.371_372delTT c.(370-372)cfs p.L124fs NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 124 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 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 GCAGCCAAACTTTTCCCAGGAA 0.322 26 215 --- --- --- --- IFNB1 3456 broad.mit.edu 37 9 21077860 21077860 + Frame_Shift_Del DEL G G - TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr9:21077860delG ENST00000380232.2 - 1 83 c.9delC c.(7-9)aafs p.N3fs NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 3 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) GGAGACACTTGTTGGTCATGT 0.458 7 32 --- --- --- --- HSPA5 3309 broad.mit.edu 37 9 128003114 128003115 + Frame_Shift_Del DEL AT AT - TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr9:128003114_128003115delAT ENST00000324460.6 - 2 397_398 c.194_195delAT c.(193-195)tfs p.Y65fs NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 65 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) TGAAGGCGACATAGGACGGCGT 0.599 Prostate(1;0.17) 26 60 --- --- --- --- NPIPB11 728888 broad.mit.edu 37 16 29394767 29394769 + In_Frame_Del DEL TAT TAT - TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr16:29394767_29394769delTAT ENST00000524087.1 - 8 1558_1560 c.1484_1486delATA c.(1483-1488)atc>a p.NI495del SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 GGTGTCTTGATATTATCATCTGC 0.586 3 5 --- --- --- ---