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 NUPR1 26471 broad.mit.edu 37 16 28549403 28549403 + Silent SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr16:28549403G>A ENST00000324873.6 - 2 452 c.186C>T c.(184-186)caC>caT p.H62H NUPR1_ENST00000395641.2_Silent_p.H80H NM_001042483.1|NM_012385.2 NP_001035948.1|NP_036517.1 O60356 NUPR1_HUMAN nuclear protein, transcriptional regulator, 1 62 cell growth|induction of apoptosis nucleus breast(1)|large_intestine(1)|lung(1) 3 GTTTCCTCTCGTGCCCGCCAG 0.622000 49 73 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420425 27420425 + Missense_Mutation SNP G G T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:27420425G>T ENST00000211936.6 - 6 1197 c.913C>A c.(913-915)Cca>Aca p.P305T ZNF184_ENST00000377419.1_Missense_Mutation_p.P305T NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CATTTATATGGTTTTTCTCCA 0.388000 6 67 0.00116845 0.00123076 1 1 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212576 78212576 + RNA SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr15:78212576C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA GTCACGTGTGCGTTCAGCAGT 0.567000 4 35 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179188942 179188942 + Silent SNP C C T rs139099797 TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr2:179188942C>T ENST00000190611.4 + 4 517 c.141C>T c.(139-141)acC>acT p.T47T OSBPL6_ENST00000409631.1_Silent_p.T47T|OSBPL6_ENST00000409045.3_Silent_p.T47T|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000357080.4_Silent_p.T47T|OSBPL6_ENST00000315022.2_Silent_p.T26T|OSBPL6_ENST00000392505.2_Silent_p.T47T|OSBPL6_ENST00000359685.3_Silent_p.T47T NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 47 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CCTCTAGCACCGAGCCCTCTG 0.488000 9 21 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28748781 28748781 + Missense_Mutation SNP A A C TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr17:28748781A>C ENST00000225719.4 + 4 1313 c.1237A>C c.(1237-1239)Aca>Cca p.T413P CPD_ENST00000543464.2_Missense_Mutation_p.T166P NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 413 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 TAATATCACAACAGGCAGATT 0.368000 41 63 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156618650 156618650 + Nonsense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:156618650C>T ENST00000329117.4 + 6 1396 c.1060C>T c.(1060-1062)Cga>Tga p.R354* BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 354 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTACTGCTTCCGAGGTGAGCC 0.557000 9 74 0 0 1 0 0 HDAC3 8841 broad.mit.edu 37 5 141005788 141005788 + Missense_Mutation SNP T T G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr5:141005788T>G ENST00000305264.3 - 11 972 c.893A>C c.(892-894)tAt>tCt p.Y298S AC008781.7_ENST00000422040.1_RNA NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 298 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) TCGGACAGTATAACCACCACC 0.512000 15 24 0 0 1 0 0 OR5C1 392391 broad.mit.edu 37 9 125551593 125551593 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr9:125551593G>A ENST00000373680.2 + 1 444 c.382G>A c.(382-384)Gtg>Atg p.V128M NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 TGACCGCTACGTGGCCATCAG 0.562000 7 95 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155500568 155500568 + Silent SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:155500568G>A ENST00000461783.3 + 14 3958 c.2685G>A c.(2683-2685)aaG>aaA p.K895K TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000456144.1_Silent_p.K895K|TIAM2_ENST00000529824.2_Silent_p.K895K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000360366.4_Silent_p.K919K|TIAM2_ENST00000367174.2_Silent_p.K271K Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 895 PDZ. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCTCACGAAGACTGGGAGTG 0.413000 34 79 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83935780 83935780 + Silent SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr15:83935780C>T ENST00000345382.2 - 3 328 c.243G>A c.(241-243)caG>caA p.Q81Q BNC1_ENST00000569704.1_Silent_p.Q74Q|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 81 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CAATCTCCACCTGGCTTGTTG 0.443000 5 41 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 3 35 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761817 92761817 + Silent SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr7:92761817C>T ENST00000318238.4 - 5 4684 c.3468G>A c.(3466-3468)gcG>gcA p.A1156A SAMD9L_ENST00000411955.1_Silent_p.A1156A|SAMD9L_ENST00000437805.1_Silent_p.A1156A NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1156 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGGCTTTTTCCGCAGCTTCTA 0.413000 86 156 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35425294 35425294 + Missense_Mutation SNP C C G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr20:35425294C>G ENST00000237536.4 - 13 3814 c.3473G>C c.(3472-3474)gGt>gCt p.G1158A SOGA1_ENST00000279034.5_Missense_Mutation_p.G920A|SOGA1_ENST00000357779.3_Missense_Mutation_p.G920A|SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 920 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCTCTTTAAACCATTTCCTCC 0.582000 11 43 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85578964 85578964 + Missense_Mutation SNP G G A rs151321935 byFrequency TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr2:85578964G>A ENST00000295802.4 - 2 306 c.194C>T c.(193-195)cCg>cTg p.P65L RETSAT_ENST00000263854.6_Missense_Mutation_p.P65L|RETSAT_ENST00000457495.2_Intron NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 65 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) CAGCTTCTCCGGCACTTGGTT 0.532000 28 31 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96418836 96418836 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr9:96418836C>T ENST00000359246.4 + 9 1473 c.1106C>T c.(1105-1107)gCg>gTg p.A369V PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 369 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TTTGAAACTGCGTGCTGGTAC 0.562000 35 26 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46549634 46549634 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr13:46549634C>T ENST00000242848.4 - 12 2600 c.2252G>A c.(2251-2253)cGa>cAa p.R751Q ZC3H13_ENST00000282007.3_Missense_Mutation_p.R751Q Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 751 Arg/Glu-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ttctctttctcgttcccgttc 0.512000 9 23 0 0 1 0 0 PIGH 5283 broad.mit.edu 37 14 68066841 68066841 + Missense_Mutation SNP C C G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr14:68066841C>G ENST00000216452.4 - 1 163 c.80G>C c.(79-81)cGg>cCg p.R27P PIGH_ENST00000560722.1_Missense_Mutation_p.R27P|PIGH_ENST00000559581.1_Missense_Mutation_p.R27P NM_004569.3 NP_004560.1 Q14442 PIGH_HUMAN phosphatidylinositol glycan anchor biosynthesis, class H 27 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus phosphatidylinositol N-acetylglucosaminyltransferase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933) GCAGAATTCCCGGCAGGACGG 0.687000 OREG0022750 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 7 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50803477 50803477 + Silent SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr20:50803477G>A ENST00000216923.4 - 2 529 c.180C>T c.(178-180)tcC>tcT p.S60S ZFP64_ENST00000371518.2_Silent_p.S60S|ZFP64_ENST00000361387.2_Silent_p.S60S|ZFP64_ENST00000371515.4_Silent_p.S58S|ZFP64_ENST00000346617.4_Silent_p.S60S NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GGGCTGCTGCGGATGTGCCTG 0.567000 5 54 0 0 1 0 0 RBM11 54033 broad.mit.edu 37 21 15592040 15592040 + Nonsense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr21:15592040C>T ENST00000400577.3 + 2 262 c.253C>T c.(253-255)Cga>Tga p.R85* RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 85 RRM. nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CGTGCAGTATCGATTTGGTAG 0.373000 3 13 0 0 1 0 0 HDGFRP2 0 broad.mit.edu 37 19 4491627 4491627 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:4491627C>T ENST00000301284.4 + 5 618 c.554C>T c.(553-555)tCc>tTc p.S185F HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 185 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding GTGTCCCCATCCGAAGAGGAG 0.617000 9 52 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109793599 109793599 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr13:109793599C>T ENST00000356711.2 + 32 5099 c.4973C>T c.(4972-4974)gCg>gTg p.A1658V MYO16_ENST00000357550.2_Missense_Mutation_p.A1658V NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1658 Pro-rich. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCGCCCCCCGCGCCCTACAGC 0.701000 5 9 0 0 1 0 0 ADAD2 161931 broad.mit.edu 37 16 84229837 84229837 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr16:84229837G>A ENST00000268624.3 + 9 1726 c.1633G>A c.(1633-1635)Gcc>Acc p.A545T RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.A463T|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 463 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding p.A545T(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CGTCCGGACCGCCCTGCACCT 0.697000 11 66 0 0 1 0 0 CD207 50489 broad.mit.edu 37 2 71058207 71058207 + Nonsense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr2:71058207G>A ENST00000410009.3 - 6 1006 c.961C>T c.(961-963)Cga>Tga p.R321* NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 321 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 ACATAGGGTCGCTTACAAATG 0.478000 5 25 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123452701 123452701 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr3:123452701G>A ENST00000360772.3 - 11 1520 c.1142C>T c.(1141-1143)aCc>aTc p.T381I MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000475616.1_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I|MYLK_ENST00000359169.1_Missense_Mutation_p.T381I Q15746 MYLK_HUMAN myosin light chain kinase 381 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGTGGGGAAGGTGGCTGGACG 0.622000 5 74 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76811139 76811139 + Missense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr4:76811139C>A ENST00000286719.7 - 5 744 c.388G>T c.(388-390)Gcc>Tcc p.A130S NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 130 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTACCAGGGCAGTTGCATGG 0.527000 7 120 8.12818e-05 8.91842e-05 1 1 0 DSCAML1 57453 broad.mit.edu 37 11 117310071 117310071 + Missense_Mutation SNP G G C TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr11:117310071G>C ENST00000321322.6 - 23 4236 c.4235C>G c.(4234-4236)gCa>gGa p.A1412G DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1142G NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1352 Fibronectin type-III 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCCTTCACTGCACGCAGCAG 0.602000 24 30 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129371234 129371234 + Splice_Site SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:129371234G>A ENST00000421865.2 + 2 332 c.e2+1 NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AATCCAAACCGTATGTATTTT 0.443000 13 23 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925456 4925456 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chrY:4925456C>T ENST00000333703.4 + 4 1072 c.559C>T c.(559-561)Cct>Tct p.P187S PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P198S|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P198S NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 198 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GGCTGTTGATCCTGACGTAGG 0.348000 49 16 0 0 1 0 0 ZNF256 10172 broad.mit.edu 37 19 58453386 58453386 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:58453386C>T ENST00000282308.3 - 3 986 c.790G>A c.(790-792)Gaa>Aaa p.E264K ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 264 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) TAAGGCTTTTCTGAAGTGTGA 0.428000 67 360 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 3 52 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8793060 8793060 + Missense_Mutation SNP T T A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr18:8793060T>A ENST00000359865.3 + 8 2094 c.1952T>A c.(1951-1953)gTg>gAg p.V651E SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 GGTCAGCTCGTGCAGGCGGCC 0.498000 39 83 0 0 1 0 0 CCDC71 64925 broad.mit.edu 37 3 49200341 49200341 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr3:49200341C>T ENST00000321895.6 - 2 1407 c.1301G>A c.(1300-1302)cGg>cAg p.R434Q NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 434 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATCCGAGGACCGCCTATCTAC 0.582000 7 41 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181702649 181702649 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:181702649C>T ENST00000526775.1 + 20 3133 c.2968C>T c.(2968-2970)Ccc>Tcc p.P990S CACNA1E_ENST00000357570.5_Missense_Mutation_p.P960S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P941S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P990S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1009S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1009S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P616S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1009 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCTAGTCCTGCCCCATCCTGA 0.612000 9 19 0 0 1 0 0 IGLV3-25 0 broad.mit.edu 37 22 23029467 23029467 + RNA SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr22:23029467G>A ENST00000390305.2 + 0 112 CCTATGAGCTGACACAGCCAC 0.572000 7 74 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103488491 103488491 + Missense_Mutation SNP T T C TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:103488491T>C ENST00000358392.2 - 8 1405 c.1088A>G c.(1087-1089)cAg>cGg p.Q363R COL11A1_ENST00000353414.4_Missense_Mutation_p.Q312R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q351R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 351 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATTTTTCCTCTGGGAATCATA 0.338000 11 55 0 0 1 0 0 DPH2 1802 broad.mit.edu 37 1 44435899 44435899 + Missense_Mutation SNP G G C rs41270389 TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:44435899G>C ENST00000255108.3 + 1 224 c.52G>C c.(52-54)Ggg>Cgg p.G18R DPH2_ENST00000396758.2_Missense_Mutation_p.G18R|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 18 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GCGAGAGACCGGGGTGCCAGG 0.647000 6 59 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44532375 44532375 + Silent SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr22:44532375G>A ENST00000338758.6 + 7 732 c.669G>A c.(667-669)tcG>tcA p.S223S PARVB_ENST00000406477.3_Silent_p.S256S|PARVB_ENST00000404989.1_Silent_p.S186S NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 223 cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) GCCACATCTCGGAGGAGCTGA 0.552000 7 37 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178481831 178481831 + Silent SNP A A G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr2:178481831A>G ENST00000355689.4 - 1 1863 c.1599T>C c.(1597-1599)taT>taC p.Y533Y AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 533 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TTGGGTCATCATAAGAGAGCT 0.388000 101 172 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 12 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26707841 26707841 + Missense_Mutation SNP G G T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr22:26707841G>T ENST00000529632.2 + 8 1985 c.1789G>T c.(1789-1791)Ggc>Tgc p.G597C SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 597 Sushi 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTGCGACCCCGGCCACTCCCT 0.567000 4 187 0.000602214 0.000642905 1 1 0 OR5M8 219484 broad.mit.edu 37 11 56258436 56258436 + Missense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr11:56258436C>A ENST00000327216.2 - 1 435 c.411G>T c.(409-411)aaG>aaT p.K137N NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) AGCACACACTCTTGGACATTC 0.542000 21 34 1.87028e-06 2.08102e-06 1 1 0 EPHB1 2047 broad.mit.edu 37 3 134885817 134885817 + Silent SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr3:134885817C>T ENST00000398015.3 + 9 2098 c.1728C>T c.(1726-1728)agC>agT p.S576S EPHB1_ENST00000493838.1_Silent_p.S137S NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 576 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CTGTGTACAGCGATAAGCTCC 0.552000 7 178 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430713 43430713 + RNA SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:43430713G>A ENST00000446844.3 - 0 954 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TTTTCAATGCGTCGCTTTACC 0.493000 109 226 0 0 1 0 0 TMEM199 147007 broad.mit.edu 37 17 26687568 26687568 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr17:26687568G>A ENST00000292114.3 + 4 482 c.392G>A c.(391-393)gGg>gAg p.G131E CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E NM_152464.1 NP_689677.1 Q8N511 TM199_HUMAN transmembrane protein 199 131 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) AGACATGGTGGGACTCTCAGC 0.468000 7 26 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729884 88729884 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr14:88729884C>T ENST00000340700.5 - 2 500 c.49G>A c.(49-51)Gca>Aca p.A17T KCNK10_ENST00000312350.5_Missense_Mutation_p.A22T|KCNK10_ENST00000319231.5_Missense_Mutation_p.A22T NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 17 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GGTGCTGCTGCGGGAACGGCC 0.562000 7 53 0 0 1 0 0 CCSAP 126731 broad.mit.edu 37 1 229462538 229462538 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:229462538C>T ENST00000284617.2 - 3 707 c.583G>A c.(583-585)Gat>Aat p.D195N CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.D195N|CCSAP_ENST00000366686.1_Missense_Mutation_p.D81N NM_145257.3 NP_660300.3 centriole, cilia and spindle-associated protein CTTCCTGTATCGGTCTGTTTT 0.498000 53 87 0 0 1 0 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861251 27861251 + Missense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:27861251C>A ENST00000303806.4 + 1 49 c.11C>A c.(10-12)cCg>cAg p.P4Q NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 4 nucleosome assembly nucleosome|nucleus DNA binding ATGCCCGACCCGGCTAAATCT 0.507000 4 58 0.014758 0.0151413 1 1 0 SLC12A6 9990 broad.mit.edu 37 15 34528968 34528968 + Nonsense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr15:34528968C>A ENST00000354181.3 - 23 3475 c.2983G>T c.(2983-2985)Gaa>Taa p.E995* SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936* Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 995 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GACCTTTGTTCCATCATCAAA 0.458000 13 71 0.00316338 0.00328825 1 1 0 AARS 16 broad.mit.edu 37 16 70305754 70305754 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr16:70305754C>T ENST00000261772.8 - 5 744 c.601G>A c.(601-603)Gca>Aca p.A201T NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 201 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) ACAAGATGTGCGGCGTCCCGA 0.542000 4 68 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654353 8654353 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:8654353C>T ENST00000270328.4 - 16 2283 c.2017G>A c.(2017-2019)Gtc>Atc p.V673I ADAMTS10_ENST00000597188.1_Missense_Mutation_p.V673I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 673 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TCGCCACTGACGCAAATGTCC 0.657000 6 67 0 0 1 0 0 ETV5 2119 broad.mit.edu 37 3 185769859 185769859 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr3:185769859C>T ENST00000306376.5 - 12 1517 c.1271G>A c.(1270-1272)cGc>cAc p.R424H ETV5_ENST00000537818.1_Missense_Mutation_p.R466H|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.R424H NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 424 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) GCGGAGAGAGCGGCTCAGCTT 0.502000 T """TMPRSS2, SCL45A3""" Prostate 13 111 0 0 1 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65868658 65868658 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr15:65868658C>T ENST00000261875.5 + 11 1196 c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C PTPLAD1_ENST00000568793.1_Missense_Mutation_p.R319C|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.R289C|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.R382C NM_016395.2 NP_057479.2 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain containing 1 344 activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CATAAATTTTCGTCACCTTTA 0.358000 4 12 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145157535 145157535 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:145157535C>T ENST00000367545.3 + 70 9923 c.9923C>T c.(9922-9924)aCg>aTg p.T3308M UTRN_ENST00000367526.4_Missense_Mutation_p.T863M NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3308 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCCCATCACACGTCTGAGGAT 0.502000 13 153 0 0 1 0 0 LPPR5 0 broad.mit.edu 37 1 99387499 99387499 + Missense_Mutation SNP C C G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:99387499C>G ENST00000370188.3 - 4 1097 c.737G>C c.(736-738)cGa>cCa p.R246P LPPR5_ENST00000263177.4_Missense_Mutation_p.R246P NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 246 integral to membrane hydrolase activity CCAATGATTTCGATATTCTGC 0.363000 13 64 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73456962 73456962 + Missense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr7:73456962C>A ENST00000252034.7 + 6 650 c.251C>A c.(250-252)gCa>gAa p.A84E ELN_ENST00000445912.1_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000380553.4_Intron|ELN_ENST00000414324.1_Missense_Mutation_p.A74E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E|ELN_ENST00000380576.5_Missense_Mutation_p.A84E NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 84 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GCCTTCCCCGCAGTTACCTTT 0.637000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 10 52 1 1 1 1 0 KIF13A 63971 broad.mit.edu 37 6 17779890 17779890 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:17779890C>T ENST00000378814.5 - 31 3832 c.3833G>A c.(3832-3834)aGa>aAa p.R1278K KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1291 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CAGGGATATTCTCCTCTTCAA 0.299000 13 30 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028160 37028160 + Silent SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chrX:37028160C>T ENST00000358047.3 + 1 1729 c.1677C>T c.(1675-1677)cgC>cgT p.R559R NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 559 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCATCTCCGCCCAGAGCCTC 0.612000 36 12 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56257968 56257968 + Missense_Mutation SNP A A C TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr11:56257968A>C ENST00000327216.2 - 1 903 c.879T>G c.(877-879)aaT>aaG p.N293K NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TTACATTTTTATTTCTAAGGC 0.328000 17 30 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 61 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173495815 173495815 + Silent SNP A A G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:173495815A>G ENST00000367714.3 - 19 2774 c.2352T>C c.(2350-2352)gcT>gcC p.A784A SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 784 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATTCTTTGACAGCATCCTGTT 0.259000 10 62 0 0 1 0 0 PCDHA12 0 broad.mit.edu 37 5 140256502 140256502 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr5:140256502C>T ENST00000398631.2 + 1 1445 c.1445C>T c.(1444-1446)gCg>gTg p.A482V PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATGGGACGCGGACGCGCAG 0.662000 5 98 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207317225 207317225 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:207317225G>A ENST00000367070.3 + 11 1701 c.1507G>A c.(1507-1509)Gag>Aag p.E503K NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 503 Sushi 8. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TCAGTATGTTGAGCCTGAAAA 0.433000 4 53 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7976415 7976415 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:7976415C>T ENST00000545011.1 + 9 1222 c.1157C>T c.(1156-1158)cCc>cTc p.P386L MAP2K7_ENST00000397981.3_Missense_Mutation_p.P351L|MAP2K7_ENST00000397979.3_Missense_Mutation_p.P344L|MAP2K7_ENST00000397983.3_Missense_Mutation_p.P360L O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 344 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) CCGCTTCTGCCCGGACACATG 0.592000 3 13 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35831815 35831815 + Silent SNP A A G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:35831815A>G ENST00000085219.5 + 7 1347 c.1281A>G c.(1279-1281)caA>caG p.Q427Q CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000341773.6_Silent_p.Q250Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000270311.6_Silent_p.Q307Q|CD22_ENST00000544992.2_Silent_p.Q427Q NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 427 Ig-like C2-type 4. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CAGTGATTCAAAACCCCATGC 0.507000 3 83 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 31099824 31099824 + Missense_Mutation SNP A A C TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr17:31099824A>C ENST00000318217.5 - 5 905 c.601T>G c.(601-603)Ttt>Gtt p.F201V MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V|MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 201 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) AAAGAATGAAAGCTTCTTTCT 0.393000 5 207 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679543 100679543 + Missense_Mutation SNP G G A rs150842387 TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr7:100679543G>A ENST00000306151.4 + 3 4910 c.4846G>A c.(4846-4848)Gct>Act p.A1616T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1616 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.A1616T(1) 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) ATCTACAACCGCTGAAGGTAG 0.502000 120 200 0 0 1 0 0 HIST1H4A 8359 broad.mit.edu 37 6 26022184 26022184 + Missense_Mutation SNP G G T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:26022184G>T ENST00000359907.3 + 1 278 c.278G>T c.(277-279)cGc>cTc p.R93L NM_003538.3 NP_003529.1 P62805 H4_HUMAN histone cluster 1, H4a 93 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|skin(1) 2 GCGCTTAAGCGCCAGGGACGC 0.537000 5 71 0.217242 0.220027 1 1 0 C3 718 broad.mit.edu 37 19 6707507 6707507 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:6707507C>T ENST00000245907.6 - 16 2109 c.2017G>A c.(2017-2019)Gtg>Atg p.V673M NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 673 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTGAGCTGCACGGAACGGCGT 0.662000 5 64 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45381839 45381839 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:45381839G>A ENST00000252485.4 + 6 1753 c.1402G>A c.(1402-1404)Gac>Aac p.D468N PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 527 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) GTCCCAGCTGGACGGCTCCCT 0.637000 3 34 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126412664 126412664 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr4:126412664G>A ENST00000394329.3 + 17 14700 c.14687G>A c.(14686-14688)cGc>cAc p.R4896H FAT4_ENST00000335110.5_Missense_Mutation_p.R3137H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4896 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TACCACGGTCGCAGGGCCGAG 0.527000 5 47 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180833005 180833005 + Missense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:180833005C>A ENST00000367590.4 + 12 1861 c.1663C>A c.(1663-1665)Caa>Aaa p.Q555K XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 555 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TGTATACCCCCAAAAAGTATG 0.408000 4 82 0.00024832 0.00026873 1 1 0 RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 7 35 --- --- --- --- CREB3L4 148327 broad.mit.edu 37 1 153945522 153945524 + In_Frame_Del DEL GAA GAA - TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:153945522_153945524delGAA ENST00000368607.3 + 6 977_979 c.711_713delGAA c.(709-714)cgg>cg p.RK237del CREB3L4_ENST00000405694.3_In_Frame_Del_p.RK90del|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368600.3_In_Frame_Del_p.RK217del|CREB3L4_ENST00000368601.1_3'UTR|CREB3L4_ENST00000271889.4_In_Frame_Del_p.RK237del|CREB3L4_ENST00000368603.1_In_Frame_Del_p.RK237del NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 237 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GTCGGCGGCGGAAGAAGGAGTAC 0.576 10 71 --- --- --- --- SENP7 57337 broad.mit.edu 37 3 101086791 101086800 + Frame_Shift_Del DEL TTTAACATCC TTTAACATCC - TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr3:101086791_101086800delTTTAACATCC ENST00000394095.2 - 8 905_914 c.852_861delGGATGTTAAA c.(850-861)aafs p.KDVK284fs SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs|SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 284 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AATCAGAATATTTAACATCCTTGTTTCTGC 0.333 10 100 --- --- --- --- RP11-254I22.1 0 broad.mit.edu 37 5 95414786 95414787 + RNA INS - - TAAAA rs80243332 by1000genomes TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr5:95414786_95414787insTAAAA ENST00000507997.1 + 0 87 CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA acccatgcacttaaagttaaaa 0.361 4 2 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 3 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579408 7579430 + Frame_Shift_Del DEL CAGGGGCCAGGAGGGGGCTGGTG CAGGGGCCAGGAGGGGGCTGGTG - rs66998338 TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr17:7579408_7579430delCAGGGGCCAGGAGGGGGCTGGTG ENST00000420246.2 - 4 389_411 c.257_279delCACCAGCCCCCTCCTGGCCCCTG c.(256-279)gfs p.APAPSWPL86fs TP53_ENST00000445888.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.APAPSWPL86fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 86 Interaction with WWOX. A -> V (in a sporadic cancer; 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.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.S90fs*33(4)|p.A88fs*32(3)|p.A76_S90del15(3)|p.P87Q(3)|p.G59fs*23(3)|p.P89S(3)|p.A88fs*35(2)|p.P85fs*59(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.A86V(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.A79_A88del10(1)|p.P87fs*54(1)|p.P87P(1)|p.A86fs*59(1)|p.P89L(1)|p.P92fs*57(1)|p.A86fs*34(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.P89fs*60(1)|p.S90F(1)|p.P92A(1)|p.A83fs*35(1)|p.P92L(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) CAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGC 0.619 111 """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) 13 45 --- --- --- ---