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 SPAG17 200162 broad.mit.edu 37 1 118512703 118512703 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:118512703C>T ENST00000336338.5 - 46 6428 c.6363G>A c.(6361-6363)ctG>ctA p.L2121L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 2121 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AAGTCACTTTCAGTCCTGTGC 0.413000 9 34 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43222821 43222821 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr6:43222821G>A ENST00000259750.4 + 7 694 c.611G>A c.(610-612)cGc>cAc p.R204H TTBK1_ENST00000304139.5_Missense_Mutation_p.R153H NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 204 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGAACGGTTCGCTATGCCTCA 0.617000 12 38 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299869 125299869 + Silent SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chrX:125299869C>A ENST00000538699.1 - 2 119 c.39G>T c.(37-39)gcG>gcT p.A13A DCAF12L2_ENST00000360028.2_Silent_p.A13A NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 13 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CGACCGCGGGCGCTTTCCGTT 0.751000 4 11 0.000602214 0.000619298 1 1 0 COL4A3BP 10087 broad.mit.edu 37 5 74695169 74695169 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:74695169C>T ENST00000380494.5 - 12 1831 c.1538G>A c.(1537-1539)aGt>aAt p.S513N COL4A3BP_ENST00000261415.7_Intron|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S385N NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 385 START. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) ATCAGAGGCACTGACTAGATC 0.438000 9 31 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T A rs121913233 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:533874T>A ENST00000417302.1 - 3 369 c.182A>T c.(181-183)cAg>cTg p.Q61L HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 34 85 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24663185 24663185 + Silent SNP G G A rs144195527 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:24663185G>A ENST00000361548.4 + 4 710 c.480G>A c.(478-480)gtG>gtA p.V160V GRHL3_ENST00000356046.2_Silent_p.V114V|GRHL3_ENST00000350501.5_Silent_p.V160V|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000342072.4_Silent_p.V67V|GRHL3_ENST00000236255.4_Silent_p.V165V NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 160 V -> A (in dbSNP:rs34637004). regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CCGGCTCTGTGGACAGCTACC 0.592000 35 93 0 0 1 0 0 IRF2 3660 broad.mit.edu 37 4 185310172 185310172 + Missense_Mutation SNP T T C TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr4:185310172T>C ENST00000393593.3 - 9 997 c.790A>G c.(790-792)Agc>Ggc p.S264G NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 264 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) CCCATGTTGCTGAGGTACTGT 0.512000 34 155 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542417 133542417 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:133542417C>T ENST00000409261.1 - 14 2340 c.1967G>A c.(1966-1968)aGa>aAa p.R656K NCKAP5_ENST00000317721.6_Missense_Mutation_p.R656K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 656 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTTTACAACTCTTTGCTGCTT 0.438000 18 35 0 0 1 0 0 HSPA14 51182 broad.mit.edu 37 10 14909272 14909272 + Nonsense_Mutation SNP C C G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr10:14909272C>G ENST00000378372.3 + 11 1423 c.1184C>G c.(1183-1185)tCa>tGa p.S395* NM_016299.2 NP_057383.2 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 395 'de novo' cotranslational protein folding cytosol ATP binding|protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 17 ATAGAGTGTTCAGCCAGAGAT 0.343000 6 44 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202131229 202131229 + Missense_Mutation SNP T T G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:202131229T>G ENST00000358485.4 + 2 393 c.197T>G c.(196-198)cTt>cGt p.L66R CASP8_ENST00000323492.7_Missense_Mutation_p.L7R|CASP8_ENST00000392259.2_Missense_Mutation_p.L7R|CASP8_ENST00000392258.3_Missense_Mutation_p.L7R|CASP8_ENST00000432109.2_Missense_Mutation_p.L7R|CASP8_ENST00000392266.3_Missense_Mutation_p.L7R|CASP8_ENST00000264274.9_Missense_Mutation_p.L7R|CASP8_ENST00000264275.5_Missense_Mutation_p.L7R NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 7 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AGCAGAAATCTTTATGATATT 0.408000 HNSCC(4;0.00038) 19 48 0 0 1 0 0 C10orf111 221060 broad.mit.edu 37 10 15138578 15138578 + Silent SNP C C G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr10:15138578C>G ENST00000378207.3 - 2 519 c.246G>C c.(244-246)gtG>gtC p.V82V NM_153244.1 NP_694976.1 Q8N326 CJ111_HUMAN chromosome 10 open reading frame 111 82 integral to membrane lung(5)|upper_aerodigestive_tract(1) 6 GCCGCTTCATCACTTGTCCCC 0.507000 25 65 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94057708 94057708 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr7:94057708C>A ENST00000297268.6 + 50 4101 c.3630C>A c.(3628-3630)aaC>aaA p.N1210K NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1210 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AACCTGAAAACATCCCAGCCA 0.478000 HNSCC(75;0.22) 26 46 1.66031e-10 1.82382e-10 1 1 0 NEB 4703 broad.mit.edu 37 2 152518695 152518695 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:152518695G>A ENST00000397345.3 - 46 6126 c.5924C>T c.(5923-5925)tCg>tTg p.S1975L NEB_ENST00000427231.2_Missense_Mutation_p.S1975L|NEB_ENST00000603639.1_Missense_Mutation_p.S1975L|NEB_ENST00000604864.1_Missense_Mutation_p.S1975L|NEB_ENST00000172853.10_Missense_Mutation_p.S1975L|NEB_ENST00000409198.1_Missense_Mutation_p.S1975L NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1975 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CATGTTCATCGAGTCCATGAG 0.398000 15 30 0 0 1 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140799002 140799002 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:140799002C>A ENST00000398594.2 + 1 1576 c.1576C>A c.(1576-1578)Cgc>Agc p.R526S PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGCAGCTGCGCACCTTCGA 0.692000 18 54 4.96729e-08 5.41547e-08 1 1 0 SERPINA7 6906 broad.mit.edu 37 X 105277537 105277537 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chrX:105277537C>A ENST00000327674.4 - 4 1537 c.1202G>T c.(1201-1203)aGg>aTg p.R401M SERPINA7_ENST00000372563.1_Missense_Mutation_p.R401M P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 401 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GAGAATACTCCTTGTGCTTCT 0.403000 57 56 1.03172e-35 1.22623e-35 1 1 0 MCC 4163 broad.mit.edu 37 5 112379227 112379227 + Splice_Site SNP C C T rs149948216 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:112379227C>T ENST00000302475.4 - 15 2749 c.2186_splice c.e15+1 p.R729_splice MCC_ENST00000408903.3_Splice_Site_p.R919_splice|MCC_ENST00000515367.2_Splice_Site_p.R666_splice|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 729 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GGGTGCTTACCGACGAATGGC 0.562000 OREG0016728 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 16 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95526892 95526892 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:95526892C>T ENST00000356884.6 - 1 202 c.135G>A c.(133-135)gaG>gaA p.E45E BICD2_ENST00000375512.3_Silent_p.E45E NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 45 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CCAGCCCGTACTCGGCCGCCT 0.662000 3 9 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533873 533873 + Missense_Mutation SNP C C A rs121913496 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:533873C>A ENST00000417302.1 - 3 370 c.183G>T c.(181-183)caG>caT p.Q61H HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61H|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61H|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61H|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61H NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61H(20)|p.Q61R(4)|p.Q61Q(1)|p.Q61L(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TGTACTCCTCCTGGCCGGCGG 0.602000 Q61H(RL952_ENDOMETRIUM) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 34 83 3.93418e-24 4.63786e-24 1 1 0 ITSN2 50618 broad.mit.edu 37 2 24471560 24471560 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:24471560G>A ENST00000355123.4 - 27 3669 c.3226C>T c.(3226-3228)Cca>Tca p.P1076S ITSN2_ENST00000361999.3_Missense_Mutation_p.P1049S|ITSN2_ENST00000406921.3_Missense_Mutation_p.P1076S NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1076 SH3 4. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACTGTCCTGGTGCAAGGCTA 0.338000 3 18 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32024589 32024589 + Silent SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr6:32024589G>A ENST00000375244.3 - 23 8118 c.7917C>T c.(7915-7917)gcC>gcT p.A2639A TNXB_ENST00000375247.2_Silent_p.A2639A P22105 TENX_HUMAN tenascin XB 2699 Fibronectin type-III 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGTCAGGGGTGGCATCTGTCA 0.632000 25 70 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 6 102 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275591 71275591 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr4:71275591C>T ENST00000399575.2 + 3 720 c.546C>T c.(544-546)atC>atT p.I182I PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 182 Thr-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) CAGTACCTATCTCTTCAACAC 0.498000 27 69 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39500196 39500196 + Nonsense_Mutation SNP C C T rs145241880 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr7:39500196C>T ENST00000518318.2 + 9 1495 c.1453C>T c.(1453-1455)Cga>Tga p.R485* POU6F2_ENST00000403058.1_Nonsense_Mutation_p.R485*|POU6F2_ENST00000559001.1_Nonsense_Mutation_p.R430* P78424 PO6F2_HUMAN POU class 6 homeobox 2 485 POU-specific. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GGAGGAGATCCGAGAATTTGC 0.532000 6 17 0 0 1 0 0 TMEM110 375346 broad.mit.edu 37 3 52878919 52878919 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr3:52878919C>A ENST00000355083.5 - 5 611 c.466G>T c.(466-468)Gct>Tct p.A156S TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.A156S NM_198563.2 NP_940965.1 transmembrane protein 110 kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) ATGTAAAGAGCGCACTGCCCG 0.537000 13 65 0.00244969 0.00250145 1 1 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 36 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963134 73963134 + Missense_Mutation SNP G G T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chrX:73963134G>T ENST00000373468.1 - 3 1909 c.1258C>A c.(1258-1260)Caa>Aaa p.Q420K KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q420K Q5QGS0 K2022_HUMAN KIAA2022 420 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTCTTAAGTTGCTCTACTTCA 0.423000 42 38 3.43241e-23 4.01371e-23 1 1 0 GRIN3A 116443 broad.mit.edu 37 9 104499889 104499889 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:104499889G>A ENST00000361820.3 - 1 973 c.373C>T c.(373-375)Cgg>Tgg p.R125W NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 125 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGGGCGTCCCGTGGCCACAGG 0.697000 5 29 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6263958 6263958 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr18:6263958C>A ENST00000400104.3 - 5 407 c.207G>T c.(205-207)gaG>gaT p.E69D L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E69D|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.E69D|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E69D Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 69 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TGGAAAACAGCTCAACAGGTG 0.453000 7 48 2.17888e-05 2.30611e-05 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139413161 139413161 + Missense_Mutation SNP C C G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:139413161C>G ENST00000277541.6 - 6 1056 c.981G>C c.(979-981)tgG>tgC p.W327C NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 327 EGF-like 8; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCTCACCAGTCCAGCCGTTGA 0.617000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 52 14 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140481411 140481411 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr7:140481411C>T ENST00000288602.6 - 11 1457 c.1397G>A c.(1396-1398)gGa>gAa p.G466E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 466 Protein kinase. G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G466V(15)|p.G466E(5)|p.G466A(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCCAAATGATCCAGATCCAAT 0.378000 G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 30 84 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25436366 25436366 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr20:25436366C>A ENST00000278886.6 - 23 3973 c.3900G>T c.(3898-3900)atG>atT p.M1300I NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.M951I NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1300 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TCTTCAGAATCATCTCCGCCT 0.517000 50 191 2.48909e-17 2.86443e-17 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79318958 79318958 + Missense_Mutation SNP G G T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:79318958G>T ENST00000428286.1 - 9 7694 c.6494C>A c.(6493-6495)cCt>cAt p.P2165H PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2524H Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2524 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TATCTGCTCAGGCTCTTTGGT 0.373000 16 114 2.62699e-14 2.97588e-14 1 1 0 PDZD2 23037 broad.mit.edu 37 5 31983414 31983414 + Silent SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:31983414G>A ENST00000438447.1 + 3 1018 c.630G>A c.(628-630)gcG>gcA p.A210A PDZD2_ENST00000282493.3_Silent_p.A210A O15018 PDZD2_HUMAN PDZ domain containing 2 210 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACCGAACTGCGAAAAAGGGGA 0.537000 25 57 0 0 1 0 0 UBALD1 124402 broad.mit.edu 37 16 4659674 4659674 + Nonsense_Mutation SNP G G C TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr16:4659674G>C ENST00000590891.1 - 1 1850 c.599C>G c.(598-600)tCa>tGa p.S200* UBALD1_ENST00000591897.1_Nonsense_Mutation_p.S105*|UBALD1_ENST00000283474.7_Nonsense_Mutation_p.S165*|UBALD1_ENST00000587615.1_Nonsense_Mutation_p.S140*|UBALD1_ENST00000590965.1_3'UTR|UBALD1_ENST00000591401.1_Nonsense_Mutation_p.S144* UBA-like domain containing 1 CCTGGGTTCTGAGGTGGCCTG 0.716000 10 32 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94069643 94069643 + Silent SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr14:94069643C>A ENST00000553484.1 + 26 3787 c.3633C>A c.(3631-3633)atC>atA p.I1211I UNC79_ENST00000256339.4_Silent_p.I1034I|UNC79_ENST00000555664.1_Silent_p.I1211I|UNC79_ENST00000393151.2_Silent_p.I1211I Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1211 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TATGGAAGATCAAGAGAGCTC 0.512000 20 68 2.37509e-13 2.66968e-13 1 1 0 KBTBD12 166348 broad.mit.edu 37 3 127682161 127682161 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr3:127682161G>A ENST00000405109.1 + 5 2089 c.1622G>A c.(1621-1623)cGc>cAc p.R541H KBTBD12_ENST00000343941.4_Missense_Mutation_p.R116H|KBTBD12_ENST00000405256.1_Missense_Mutation_p.R541H|KBTBD12_ENST00000407609.3_Missense_Mutation_p.R148H|KBTBD12_ENST00000492025.1_3'UTR Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 541 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 CTCTCACTCCGCACCAATTCC 0.542000 8 12 0 0 1 0 0 C5orf34 375444 broad.mit.edu 37 5 43506488 43506488 + Silent SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:43506488G>A ENST00000306862.2 - 4 669 c.294C>T c.(292-294)ttC>ttT p.F98F RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 98 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) TTATGTCAATGAAGATATGCT 0.368000 10 16 0 0 1 0 0 CIZ1 25792 broad.mit.edu 37 9 130941637 130941637 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:130941637C>T ENST00000538431.1 - 8 1096 c.849G>A c.(847-849)ccG>ccA p.P283P CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000277465.4_Silent_p.P283P|CIZ1_ENST00000372938.5_Silent_p.P283P|CIZ1_ENST00000393608.1_Silent_p.P283P|CIZ1_ENST00000372954.1_Silent_p.P259P|CIZ1_ENST00000541172.1_Silent_p.P182P|CIZ1_ENST00000357558.5_Silent_p.P283P|CIZ1_ENST00000325721.8_Silent_p.P254P|CIZ1_ENST00000372948.3_Silent_p.P283P NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 283 Gln-rich. nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 TCCGGGCCTGCGGCTGGGCCT 0.567000 18 67 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30695298 30695298 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr8:30695298C>T ENST00000256246.2 - 3 7427 c.7353G>A c.(7351-7353)aaG>aaA p.K2451K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2451 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CACAATCTTTCTTATCACTTT 0.358000 30 116 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812097 140812097 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:140812097G>A ENST00000252085.3 + 1 1913 c.1771G>A c.(1771-1773)Gtg>Atg p.V591M PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGACCAAGGTGGTGGCGGT 0.687000 50 117 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66992739 66992739 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr8:66992739C>T ENST00000276570.5 + 5 748 c.461C>T c.(460-462)tCc>tTc p.S154F DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 154 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) TTCTATGTGTCCCCAGAGGAT 0.552000 7 15 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3109525 3109525 + Silent SNP C C G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:3109525C>G ENST00000263650.7 - 22 2709 c.2550G>C c.(2548-2550)ccG>ccC p.P850P OSBPL5_ENST00000525498.1_Silent_p.P761P|OSBPL5_ENST00000348039.5_Silent_p.P782P|OSBPL5_ENST00000542243.1_Silent_p.P481P|OSBPL5_ENST00000389989.3_Silent_p.P782P|OSBPL5_ENST00000478260.1_Silent_p.P304P NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 850 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GGCCTGGGGTCGGTGCCTGTG 0.632000 10 29 0 0 1 0 0 RMND5B 64777 broad.mit.edu 37 5 177569714 177569714 + Silent SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:177569714C>A ENST00000515098.1 + 5 621 c.270C>A c.(268-270)ggC>ggA p.G90G RMND5B_ENST00000313386.4_Silent_p.G90G|RMND5B_ENST00000542098.1_Silent_p.G77G Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 90 endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCGAGTGGGCAAAGCCATTG 0.567000 20 67 1.40151e-16 1.60015e-16 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11666861 11666861 + Missense_Mutation SNP A A C TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr17:11666861A>C ENST00000262442.3 + 36 7168 c.7100A>C c.(7099-7101)aAg>aCg p.K2367T DNAH9_ENST00000454412.2_Missense_Mutation_p.K2367T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2367 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GACTGCCCTAAGGAAATTTAT 0.488000 16 53 0 0 1 0 0 BCL3 602 broad.mit.edu 37 19 45259540 45259540 + Silent SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:45259540G>A ENST00000164227.5 + 3 706 c.462G>A c.(460-462)ctG>ctA p.L154L NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 154 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) TGCACCGGCTGGTCAACCTCT 0.622000 T IGH@ CLL 6 25 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 407546 407546 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr6:407546G>A ENST00000380956.4 + 9 1430 c.1304G>A c.(1303-1305)aGc>aAc p.S435N NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 435 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GAACACATCAGCAATCCAGAA 0.353000 T IGH@ MM 13 44 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123984545 123984545 + Missense_Mutation SNP T T C TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:123984545T>C ENST00000306315.5 - 4 1967 c.1532A>G c.(1531-1533)aAc>aGc p.N511S ZNF608_ENST00000504926.1_Missense_Mutation_p.N84S NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 511 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) AGAGCTGGAGTTCAGGTCCAG 0.512000 19 54 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 21 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41158815 41158815 + Silent SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:41158815C>A ENST00000263413.3 - 13 2193 c.1929G>T c.(1927-1929)ggG>ggT p.G643G C6_ENST00000337836.5_Silent_p.G643G NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 643 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCTGAGGACACCCGGAATCTG 0.403000 7 36 0.00307968 0.00312275 1 1 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217341 26217341 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr6:26217341G>A ENST00000303910.2 + 1 177 c.139G>A c.(139-141)Ggc>Agc p.G47S NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 47 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) AGTCGGGGCCGGCGCTCCAGT 0.587000 15 45 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7727541 7727541 + Missense_Mutation SNP A A T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr6:7727541A>T ENST00000283147.6 + 1 512 c.353A>T c.(352-354)cAg>cTg p.Q118L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 118 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.Q118L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) cagcagcagcagcTGCCTCGC 0.731000 3 14 0 0 1 0 0 CCL25 6370 broad.mit.edu 37 19 8122796 8122796 + Missense_Mutation SNP C C G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:8122796C>G ENST00000253451.4 + 5 540 c.434C>G c.(433-435)gCt>gGt p.A145G CCL25_ENST00000390669.3_Missense_Mutation_p.A146G NM_001201359.1|NM_005624.3 NP_001188288.1|NP_005615.2 O15444 CCL25_HUMAN chemokine (C-C motif) ligand 25 146 chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|hormone activity NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1) 5 ctgatatcagctaattcaggt 0.478000 18 64 0 0 1 0 0 TOMM20 9804 broad.mit.edu 37 1 235291945 235291945 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:235291945C>T ENST00000366607.4 - 1 306 c.86G>A c.(85-87)cGa>cAa p.R29Q NM_014765.2 NP_055580.1 Q15388 TOM20_HUMAN translocase of outer mitochondrial membrane 20 homolog (yeast) 29 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding lung(2)|prostate(1) 3 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05) GGGGTCACTTCGTCTTTTGCG 0.602000 39 106 0 0 1 0 0 IGHV4-59 28392 broad.mit.edu 37 14 107083671 107083671 + RNA SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr14:107083671C>T ENST00000455737.1 - 0 54 GAAGGAAGAACCACAGATGTT 0.512000 4 37 0 0 1 0 0 OR2AG1 144125 broad.mit.edu 37 11 6807091 6807091 + Missense_Mutation SNP T T A rs112661648 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:6807091T>A ENST00000307401.4 + 1 844 c.823T>A c.(823-825)Tct>Act p.S275T NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAACATCATCTCTGTTTTCTA 0.498000 11 39 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53573249 53573249 + Nonsense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:53573249G>A ENST00000601421.1 - 3 1306 c.430C>T c.(430-432)Cag>Tag p.Q144* ZNF160_ENST00000418871.1_Nonsense_Mutation_p.Q180*|ZNF160_ENST00000429604.1_Nonsense_Mutation_p.Q180*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.Q180* Q9HCG1 ZN160_HUMAN zinc finger protein 160 180 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) ACTCCAAGCTGATTGTTCATA 0.403000 16 54 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26874260 26874260 + Missense_Mutation SNP T T A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr12:26874260T>A ENST00000242737.5 - 6 540 c.541A>T c.(541-543)Att>Ttt p.I181F ITPR2_ENST00000381340.3_Intron Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 0 MIR 2. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CCAAATTAAATCCAGAAGCTT 0.338000 3 11 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34269411 34269411 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr14:34269411C>T ENST00000346562.2 + 11 1876 c.1802C>T c.(1801-1803)cCc>cTc p.P601L NPAS3_ENST00000548645.1_Missense_Mutation_p.P603L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P638L|NPAS3_ENST00000357798.5_Missense_Mutation_p.P620L|NPAS3_ENST00000356141.4_Missense_Mutation_p.P633L NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 633 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CTGGTGGAGCCCCCGCGGCTG 0.652000 6 20 0 0 1 0 0 LACTB2 51110 broad.mit.edu 37 8 71570088 71570088 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr8:71570088G>A ENST00000276590.4 - 3 352 c.316C>T c.(316-318)Cgg>Tgg p.R106W RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.R106W NM_016027.2 NP_057111.1 Q53H82 LACB2_HUMAN lactamase, beta 2 106 hydrolase activity|metal ion binding endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1) 10 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) TGAGGATTCCGTGGGAGTTTT 0.323000 23 22 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131431 72131431 + Silent SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:72131431G>A ENST00000265381.4 - 2 918 c.696C>T c.(694-696)ggC>ggT p.G232G NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 232 Munc-18-1 binding. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GCAGCCGCGCGCCCAGGGCCT 0.726000 5 17 0 0 1 0 0 PHOX2B 8929 broad.mit.edu 37 4 41749390 41749390 + Silent SNP G G A rs147497096 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr4:41749390G>A ENST00000226382.2 - 2 764 c.405C>T c.(403-405)atC>atT p.I135I NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 135 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 CTGTGAGGTCGATCTTCAGGG 0.647000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 20 46 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74927661 74927661 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr16:74927661C>T ENST00000262144.6 - 19 2046 c.1916G>A c.(1915-1917)cGa>cAa p.R639Q NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 639 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CTTGATCTGTCGATTGCCAGA 0.458000 34 74 0 0 1 0 0 SPECC1L 23384 broad.mit.edu 37 22 24717411 24717411 + Missense_Mutation SNP C C T rs148203655 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr22:24717411C>T ENST00000314328.9 + 5 748 c.463C>T c.(463-465)Cgc>Tgc p.R155C SPECC1L_ENST00000437398.1_Missense_Mutation_p.R155C|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.R155C|SPECC1L_ENST00000541492.1_Missense_Mutation_p.R155C|SPECC1L_ENST00000416735.1_Intron NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 155 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 CAAACGTTCCCGCAGTCGAAC 0.463000 27 77 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141035785 141035785 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:141035785C>T ENST00000239440.4 - 28 3913 c.3848G>A c.(3847-3849)cGc>cAc p.R1283H ARAP3_ENST00000508305.1_Missense_Mutation_p.R1114H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R945H NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1283 PH 3. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TAACTTCTTGCGGATTCCCAG 0.557000 4 116 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152801884 152801884 + Missense_Mutation SNP G G T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chrX:152801884G>T ENST00000370186.1 + 2 505 c.179G>T c.(178-180)tGc>tTc p.C60F ATP2B3_ENST00000370181.2_Missense_Mutation_p.C60F|ATP2B3_ENST00000349466.2_Missense_Mutation_p.C60F|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C60F|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C60F|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C60F Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 60 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCGGGCTCTGCCGGAGGCTG 0.662000 2 2 1 1 1 1 0 ITPKC 80271 broad.mit.edu 37 19 41223947 41223947 + Silent SNP T T C TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:41223947T>C ENST00000263370.2 + 1 940 c.907T>C c.(907-909)Tta>Cta p.L303L NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 303 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGATGGCCCATTAGAGGAACC 0.572000 15 52 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214830486 214830486 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:214830486G>A ENST00000366955.3 + 18 8864 c.8696G>A c.(8695-8697)gGg>gAg p.G2899E NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2995 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GATTCCCGAGGGTCTCCTTTG 0.438000 37 105 0 0 1 0 0 BOLL 66037 broad.mit.edu 37 2 198646521 198646521 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:198646521C>T ENST00000321801.7 - 2 660 c.90G>A c.(88-90)ttG>ttA p.L30L BOLL_ENST00000392296.4_Silent_p.L18L|BOLL_ENST00000430004.1_Silent_p.L18L|BOLL_ENST00000433157.1_Silent_p.L18L|BOLL_ENST00000282278.8_5'UTR NM_197970.2 NP_932074.1 Q8N9W6 BOLL_HUMAN boule-like RNA-binding protein 18 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 TTGGGTTATTCAAAGGCACAG 0.378000 26 111 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47776172 47776172 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:47776172C>A ENST00000263773.5 - 3 370 c.358G>T c.(358-360)Gac>Tac p.D120Y FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 120 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 ACATCATTGTCATCGTCATCA 0.393000 7 48 8.12818e-05 8.54048e-05 1 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904872 144904872 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chrX:144904872G>A ENST00000370490.1 + 1 5184 c.929G>A c.(928-930)cGt>cAt p.R310H SLITRK2_ENST00000428560.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R310H Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 310 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) ATGAGAAATCGTCCAACTCCT 0.552000 19 20 0 0 1 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420807 55420807 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr12:55420807C>T ENST00000242994.3 + 2 962 c.584C>T c.(583-585)tCt>tTt p.S195F NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 195 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 ATTTGTGACTCTGCCATCTCT 0.517000 17 40 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70466245 70466245 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chrX:70466245C>T ENST00000373998.1 - 15 3191 c.2494G>A c.(2494-2496)Gtc>Atc p.V832I ZMYM3_ENST00000314425.5_Missense_Mutation_p.V844I|ZMYM3_ENST00000373988.1_Missense_Mutation_p.V846I|ZMYM3_ENST00000353904.2_Missense_Mutation_p.V844I|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.V846I NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 844 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TTGCAGGAGACGCCCCGATTC 0.592000 10 13 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48267105 48267105 + Silent SNP A A G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:48267105A>G ENST00000302329.3 + 1 498 c.450A>G c.(448-450)gcA>gcG p.A150A NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 ATTCCTTTGCACAAATCCTTC 0.498000 31 115 0 0 1 0 0 LRWD1 222229 broad.mit.edu 37 7 102106340 102106340 + Missense_Mutation SNP G G T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr7:102106340G>T ENST00000292616.5 + 2 309 c.157G>T c.(157-159)Gac>Tac p.D53Y NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 53 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 GCAGGAGCTTGACCTGTCTAA 0.622000 13 49 4.3838e-07 4.74367e-07 1 1 0 PCCA 5095 broad.mit.edu 37 13 100955251 100955251 + Splice_Site SNP G G C TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr13:100955251G>C ENST00000376285.1 + 14 1321 c.1284_splice c.e14+1 p.G428_splice PCCA_ENST00000376279.3_Splice_Site_p.G428_splice|PCCA_ENST00000376286.4_Splice_Site_p.G402_splice NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 428 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) CATCTACCTGGTGTAAGTCAT 0.383000 7 32 0 0 1 0 0 TMOD1 7111 broad.mit.edu 37 9 100328229 100328229 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:100328229G>A ENST00000395211.2 + 7 854 c.718G>A c.(718-720)Gtg>Atg p.V240M TMOD1_ENST00000259365.3_Missense_Mutation_p.V240M|TMOD1_ENST00000375175.1_Missense_Mutation_p.V113M NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 240 muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) TAATGACCCCGTGGCGTATGT 0.493000 16 64 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 7 27 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101844291 101844291 + Missense_Mutation SNP G G C TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr13:101844291G>C ENST00000251127.6 - 14 1822 c.1741C>G c.(1741-1743)Ctc>Gtc p.L581V NALCN_ENST00000376196.3_Missense_Mutation_p.L581V|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 581 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGATGATAGAGAATGAAATAG 0.413000 5 20 0 0 1 0 0 GJB3 2707 broad.mit.edu 37 1 35250780 35250780 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:35250780C>T ENST00000373366.2 + 2 1032 c.417C>T c.(415-417)ctC>ctT p.L139L GJB3_ENST00000373362.3_Silent_p.L139L|RP1-34M23.5_ENST00000542839.1_RNA NM_024009.2 NP_076872.1 O75712 CXB3_HUMAN gap junction protein, beta 3, 31kDa 139 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TCTTCAAGCTCATCATTGAGT 0.587000 25 81 0 0 1 0 0 TAS2R13 50838 broad.mit.edu 37 12 11061430 11061430 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr12:11061430C>T ENST00000390677.2 - 1 731 c.468G>A c.(466-468)ctG>ctA p.L156L PRR4_ENST00000536668.1_Intron NM_023920.2 NP_076409.1 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 156 sensory perception of taste integral to membrane taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CATATCGGTCCAGCCAGTCTT 0.348000 13 36 0 0 1 0 0 SHB 6461 broad.mit.edu 37 9 37974673 37974673 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:37974673C>T ENST00000377707.3 - 3 1565 c.1000G>A c.(1000-1002)Gat>Aat p.D334N RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 334 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TCGTACTCATCGGCGGGCCTG 0.632000 31 76 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031885 26031885 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr6:26031885C>T ENST00000244661.2 - 1 403 c.404G>A c.(403-405)aGa>aAa p.R135K NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 135 Missing (in Ref. 2; AAA52651). blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 CATTTACGCTCTTTCTCCGCG 0.453000 25 56 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631389 32631389 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:32631389G>A ENST00000242310.4 - 1 4278 c.4189C>T c.(4189-4191)Cgc>Tgc p.R1397C NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1397 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGGTCTGTGCGGCGTCGGTGG 0.468000 77 123 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543010 133543010 + Silent SNP C C G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:133543010C>G ENST00000409261.1 - 14 1747 c.1374G>C c.(1372-1374)ggG>ggC p.G458G NCKAP5_ENST00000317721.6_Silent_p.G458G|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 458 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGCAGGGGCTCCCCAGGTCAG 0.468000 14 11 0 0 1 0 0 VAPA 9218 broad.mit.edu 37 18 9936135 9936135 + Silent SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr18:9936135G>A ENST00000400000.2 + 3 516 c.261G>A c.(259-261)ccG>ccA p.P87P VAPA_ENST00000340541.4_Silent_p.P87P|VAPA_ENST00000584796.1_3'UTR NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 87 MSP. cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 ACTATGATCCGAATGAAAAGA 0.333000 5 56 0 0 1 0 0 DESI1 27351 broad.mit.edu 37 22 41999360 41999360 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr22:41999360G>A ENST00000263256.6 - 5 572 c.316C>T c.(316-318)Cac>Tac p.H106Y DESI1_ENST00000463886.1_5'UTR NM_015704.2 NP_056519.1 Q6ICB0 PPDE2_HUMAN desumoylating isopeptidase 1 106 PPPDE peptidase. TTACAATTGTGTTCAAAGAGG 0.463000 29 89 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74459765 74459765 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:74459765C>T ENST00000394019.2 - 24 3002 c.2605G>A c.(2605-2607)Ggc>Agc p.G869S RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G869S|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G869S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G767S|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G767S|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G869S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G869S NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 869 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGATGGTAGCCGGCAGCCTTC 0.602000 6 35 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142562010 142562010 + Missense_Mutation SNP G G A rs145358081 byFrequency TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr7:142562010G>A ENST00000392957.2 + 7 1239 c.452G>A c.(451-453)cGc>cAc p.R151H EPHB6_ENST00000442129.1_Missense_Mutation_p.R151H|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 151 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CACCTCAAACGCTGGACCAAG 0.627000 27 67 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230643687 230643687 + Missense_Mutation SNP G G T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:230643687G>T ENST00000283943.5 - 34 5067 c.4889C>A c.(4888-4890)cCt>cAt p.P1630H TRIP12_ENST00000389045.3_Missense_Mutation_p.P1360H|TRIP12_ENST00000389044.4_Missense_Mutation_p.P1678H NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1630 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTCCAGTGTAGGCCCAAGACC 0.408000 25 90 3.28513e-13 3.63621e-13 1 1 0 USP6 9098 broad.mit.edu 37 17 5064823 5064823 + Splice_Site SNP T T A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr17:5064823T>A ENST00000574788.1 + 32 5059 c.2828_splice c.e32-1 p.R943_splice USP6_ENST00000304328.5_Splice_Site_p.R626_splice|USP6_ENST00000250066.6_Splice_Site_p.R943_splice|USP6_ENST00000332776.4_3'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 943 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCTGTTTCAGTGATAACTGTA 0.433000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 8 15 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123662084 123662084 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr10:123662084C>T ENST00000369043.3 - 6 721 c.635G>A c.(634-636)cGg>cAg p.R212Q ATE1_ENST00000369040.3_Missense_Mutation_p.R116Q|ATE1_ENST00000224652.6_Missense_Mutation_p.R212Q|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.R205Q|ATE1_ENST00000543447.1_Missense_Mutation_p.R97Q NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 212 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) CCTTTCTTTCCGGATTTCCTT 0.408000 10 24 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24491935 24491935 + Splice_Site SNP A A G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:24491935A>G ENST00000264463.4 - 11 2133 c.1624_splice c.e11-1 p.D542_splice CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 542 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TGGCAGTATTATCTAAAACAA 0.289000 HNSCC(23;0.051) 5 15 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57746758 57746758 + Silent SNP G G T rs140410966 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:57746758G>T ENST00000302804.7 + 7 1089 c.903G>T c.(901-903)ctG>ctT p.L301L AURKC_ENST00000415300.2_Silent_p.L282L|AURKC_ENST00000448930.1_Silent_p.L267L|AURKC_ENST00000598785.1_Silent_p.L267L|AURKC_ENST00000599062.1_Silent_p.L298L NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 301 cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) GAAGGGTGCTGCCTCCCTGTG 0.577000 23 60 3.28513e-13 3.63621e-13 1 1 0 NEK10 152110 broad.mit.edu 37 3 27157603 27157603 + Missense_Mutation SNP A A G rs111622636 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr3:27157603A>G ENST00000429845.2 - 37 3739 c.3377T>C c.(3376-3378)aTt>aCt p.I1126T NEK10_ENST00000295720.6_Missense_Mutation_p.I438T|NEK10_ENST00000383771.4_Missense_Mutation_p.I428T|NEK10_ENST00000383770.3_Missense_Mutation_p.I381T Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 1126 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CTCCAATTCAATGCTGGTTGG 0.333000 7 25 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95504027 95504027 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr8:95504027C>T ENST00000297591.5 - 22 4994 c.4919G>A c.(4918-4920)cGt>cAt p.R1640H KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1640 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTTTCTCTGACGAAAAATATC 0.453000 17 86 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30795057 30795057 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr16:30795057G>A ENST00000262525.4 - 3 799 c.592C>T c.(592-594)Cgc>Tgc p.R198C NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) GTGTGCGTGCGCTGGTGCTGC 0.672000 11 35 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57075893 57075893 + Missense_Mutation SNP C C G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:57075893C>G ENST00000532437.1 - 5 4603 c.4292G>C c.(4291-4293)gGa>gCa p.G1431A TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1431A Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1431 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GAGGGCTTCTCCTGTCTCCAT 0.567000 63 213 0 0 1 0 0 FAM53A 152877 broad.mit.edu 37 4 1657255 1657255 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr4:1657255G>A ENST00000308132.6 - 4 524 c.332C>T c.(331-333)tCg>tTg p.S111L FAM53A_ENST00000472884.2_Missense_Mutation_p.S111L|FAM53A_ENST00000461064.1_Missense_Mutation_p.S111L|FAM53A_ENST00000489363.1_Missense_Mutation_p.S111L NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 111 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) GGCCGTGGACGAGCCTGTGCT 0.701000 5 9 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976393 38976393 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:38976393G>A ENST00000355481.4 + 34 5229 c.5098G>A c.(5098-5100)Gcg>Acg p.A1700T RYR1_ENST00000360985.3_Missense_Mutation_p.A1700T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1700T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1700 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTGGAGGACGCGCACCTGCC 0.657000 16 70 0 0 1 0 0 ANKRD29 147463 broad.mit.edu 37 18 21214078 21214078 + Silent SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr18:21214078G>A ENST00000592179.1 - 5 520 c.366C>T c.(364-366)taC>taT p.Y122Y ANKRD29_ENST00000322980.9_Silent_p.Y122Y|ANKRD29_ENST00000284207.7_Silent_p.Y122Y NM_173505.2 NP_775776.2 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 122 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) GCATGTGCCCGTACTGACTGG 0.512000 15 46 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45515201 45515201 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:45515201C>T ENST00000221452.8 + 4 321 c.171C>T c.(169-171)atC>atT p.I57I RELB_ENST00000540120.1_Silent_p.I57I|RELB_ENST00000505236.1_Silent_p.I54I NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 57 Leucine-zipper. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) CAGAGATCATCGACGAGTACA 0.557000 3 15 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196545452 196545452 + Missense_Mutation SNP C C T rs139926734 by1000genomes TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:196545452C>T ENST00000409086.3 + 2 961 c.686C>T c.(685-687)cCg>cTg p.P229L SLC39A10_ENST00000359634.5_Missense_Mutation_p.P229L|SLC39A10_ENST00000541054.1_Intron NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 229 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GTTAAACTACCGAAAGGAAAG 0.413000 9 35 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54475631 54475631 + Missense_Mutation SNP T T A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chrX:54475631T>A ENST00000375135.3 - 15 2952 c.2219A>T c.(2218-2220)cAg>cTg p.Q740L NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 740 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GAAGGGCTCCTGGCAGCGCAT 0.602000 3 42 0 0 1 0 0 ATXN10 25814 broad.mit.edu 37 22 46125410 46125410 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr22:46125410C>T ENST00000252934.5 + 7 1099 c.834C>T c.(832-834)acC>acT p.T278T ATXN10_ENST00000381061.4_Silent_p.T214T NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 278 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) TTGCAAGCACCTTTGTGGATC 0.488000 12 61 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34053609 34053609 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr20:34053609C>A ENST00000397527.1 + 6 1005 c.285C>A c.(283-285)aaC>aaA p.N95K CEP250_ENST00000397524.1_Missense_Mutation_p.N95K|CEP250_ENST00000342580.4_Missense_Mutation_p.N95K NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 95 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AGGAGCCAAACCTGGATGAGC 0.542000 4 10 0.150653 0.1517 1 1 0 TNK2 10188 broad.mit.edu 37 3 195599248 195599248 + Silent SNP C C T rs112025939 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr3:195599248C>T ENST00000333602.6 - 10 1967 c.1350G>A c.(1348-1350)tcG>tcA p.S450S TNK2_ENST00000392400.1_Silent_p.S450S|TNK2_ENST00000381916.2_Silent_p.S513S|TNK2_ENST00000316664.3_Silent_p.S450S|TNK2_ENST00000428187.1_Silent_p.S482S NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 450 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TGTCCTGGGCCGACAGGCCGG 0.672000 16 53 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250635 140250635 + Silent SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr5:140250635G>A ENST00000398640.2 + 1 1947 c.1947G>A c.(1945-1947)ctG>ctA p.L649L PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTAGTACTGGTGAAGGATC 0.667000 26 63 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38647361 38647361 + RNA SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr10:38647361C>T ENST00000494540.1 + 0 232 NR_003086.1 GGCCTCTCACCCCACTGCTGA 0.537000 7 24 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237374200 237374200 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:237374200C>A ENST00000409907.3 - 6 1148 c.874G>T c.(874-876)Gat>Tat p.D292Y IQCA1_ENST00000431676.2_Missense_Mutation_p.D292Y|IQCA1_ENST00000309507.5_Missense_Mutation_p.D288Y Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 292 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TCCTTGATATCCACGCCTTCT 0.483000 3 25 0.00024832 0.000259039 1 1 0 DMXL2 23312 broad.mit.edu 37 15 51743860 51743860 + Missense_Mutation SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr15:51743860C>T ENST00000251076.5 - 41 8952 c.8665G>A c.(8665-8667)Gga>Aga p.G2889R DMXL2_ENST00000449909.3_Missense_Mutation_p.G2253R|DMXL2_ENST00000543779.2_Missense_Mutation_p.G2890R|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2889 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AGGCTGTTTCCGGGTGATATT 0.323000 7 19 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146480607 146480607 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr6:146480607G>A ENST00000392299.2 + 3 1294 c.824G>A c.(823-825)cGc>cAc p.R275H GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 275 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R275H(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CGACTCTTGCGCAAACTCCGA 0.577000 3 43 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 59 0 0 1 0 0 APOA1BP 128240 broad.mit.edu 37 1 156562233 156562233 + Missense_Mutation SNP A A T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:156562233A>T ENST00000368235.3 + 3 411 c.368A>T c.(367-369)gAt>gTt p.D123V APOA1BP_ENST00000368234.3_Missense_Mutation_p.D123V|APOA1BP_ENST00000368233.3_Missense_Mutation_p.D123V|APOA1BP_ENST00000467374.1_3'UTR NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 123 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AATGGAGGAGATGGTCTGGTC 0.587000 19 76 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74357800 74357800 + Missense_Mutation SNP C C G rs151113361 byFrequency TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr4:74357800C>G ENST00000226355.3 + 8 1148 c.1055C>G c.(1054-1056)gCg>gGg p.A352G NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 352 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACCTTCTTTGCGAAGTAATAT 0.343000 8 48 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57326722 57326722 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:57326722G>A ENST00000326441.9 - 10 3451 c.3088C>T c.(3088-3090)Cgg>Tgg p.R1030W PEG3_ENST00000423103.2_Missense_Mutation_p.R1030W|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R904W|PEG3_ENST00000598410.1_Missense_Mutation_p.R906W|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1030 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CATTTGTTCCGCGCTTGCTCT 0.468000 16 31 0 0 1 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20190989 20190989 + Splice_Site SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chrX:20190989G>A ENST00000379565.3 - 15 1435 c.1227_splice c.e15-1 p.Q410_splice RPS6KA3_ENST00000379548.4_Intron|RPS6KA3_ENST00000544447.1_Splice_Site_p.Q382_splice|RPS6KA3_ENST00000540702.1_Intron NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 410 Missing (in Ref. 3; BAD92170). axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 CTGTGTAACTGCTACAAAAAA 0.353000 7 6 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 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.Q76Q(4) 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) agcaacagcagcagcagcagc 0.572000 5 58 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111346 7111346 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:7111346G>A ENST00000306904.5 + 1 1182 c.995G>A c.(994-996)cGg>cAg p.R332Q NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 332 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGTTATGGCCGGAGCGACCGC 0.652000 6 33 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214557391 214557391 + Nonsense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:214557391G>A ENST00000366956.5 - 13 2001 c.1807C>T c.(1807-1809)Cag>Tag p.Q603* PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 603 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) ACCGAGAGCTGCACCTTCCGG 0.662000 10 31 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86880613 86880613 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chrX:86880613C>A ENST00000373119.4 + 6 1286 c.1141C>A c.(1141-1143)Ctg>Atg p.L381M KLHL4_ENST00000373114.4_Missense_Mutation_p.L381M NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 381 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TTTTCAGTTACTGGCAGATCT 0.408000 9 9 2.17888e-05 2.30611e-05 1 1 0 CLCA4 22802 broad.mit.edu 37 1 87040331 87040331 + Missense_Mutation SNP C C G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:87040331C>G ENST00000370563.3 + 10 1618 c.1576C>G c.(1576-1578)Ctg>Gtg p.L526V RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 526 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) ATGGAACAGTCTGCCTCCCAG 0.423000 13 49 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 977193 977193 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:977193G>A ENST00000448903.2 + 5 713 c.572G>A c.(571-573)cGa>cAa p.R191Q AP2A2_ENST00000534328.1_Missense_Mutation_p.R191Q|AP2A2_ENST00000332231.5_Missense_Mutation_p.R191Q NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 191 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGACATCCCGAGTGGTGCAC 0.607000 6 22 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185190929 185190929 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr3:185190929G>A ENST00000265026.3 + 11 2144 c.1810G>A c.(1810-1812)Gca>Aca p.A604T MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 604 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGACTTTGCCGCAATCTTGAA 0.507000 5 388 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187521451 187521451 + Nonsense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr4:187521451G>A ENST00000441802.2 - 22 11913 c.11704C>T c.(11704-11706)Cag>Tag p.Q3902* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3902 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGAATGCTCTGAACAGAGACA 0.473000 HNSCC(5;0.00058) 5 11 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17833690 17833690 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr7:17833690C>T ENST00000428135.3 - 26 3051 c.2853G>A c.(2851-2853)gcG>gcA p.A951A SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000409389.1_3'UTR NM_015132.4 NP_055947.1 Q9Y5W8 SNX13_HUMAN sorting nexin 13 962 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) GCAAAGAAGGCGCTTGAGTAG 0.398000 6 16 0 0 1 0 0 CLOCK 9575 broad.mit.edu 37 4 56301652 56301652 + Missense_Mutation SNP T T A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr4:56301652T>A ENST00000309964.4 - 22 2721 c.2471A>T c.(2470-2472)cAg>cTg p.Q824L CLOCK_ENST00000381322.1_Missense_Mutation_p.Q824L|CLOCK_ENST00000513440.1_Missense_Mutation_p.Q824L NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 824 Poly-Gln. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CTGCTGTTGCTGAGACTGATG 0.527000 4 102 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16475080 16475094 + In_Frame_Del DEL GCAGCAGCTCGGGGC GCAGCAGCTCGGGGC - TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:16475080_16475094delGCAGCAGCTCGGGGC ENST00000358432.5 - 3 756_770 c.602_616delGCCCCGAGCTGCTGC c.(601-618)tag>t p.CPELLQ201del EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 201 Cys-rich. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GCCAGGCCCTGCAGCAGCTCGGGGCACTTCTTGTA 0.665 16 25 --- --- --- --- NES 10763 broad.mit.edu 37 1 156639587 156639590 + Frame_Shift_Del DEL CACT CACT - TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr1:156639587_156639590delCACT ENST00000368223.3 - 4 4522_4525 c.4390_4393delAGTG c.(4390-4395)tcfs p.SV1466fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1466 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGACACTGACACTCACAGAATCA 0.637 11 52 --- --- --- --- NIFK-AS1 254128 broad.mit.edu 37 2 122466739 122466740 + RNA INS - - T rs6733674 by1000genomes TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr2:122466739_122466740insT ENST00000419902.1 + 0 637 NR_037857.1 tttttttgttgttttttttttg 0.460 3 5 --- --- --- --- STAB1 23166 broad.mit.edu 37 3 52555493 52555494 + Frame_Shift_Del DEL TG TG - TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr3:52555493_52555494delTG ENST00000321725.6 + 56 6101_6102 c.6025_6026delTG c.(6025-6027)tfs p.C2009fs NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2009 Laminin EGF-like 2. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CTGTGAACTCTGTGCTCCTGGT 0.604 22 59 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 2 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149526874 149526874 + RNA DEL C C - TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr7:149526874delC ENST00000378016.2 + 0 15142 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) cctcctgtgtcccccccacag 0.657 2 4 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971199 21971200 + Frame_Shift_Ins INS - - AT rs104894095 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr9:21971199_21971200insAT ENST00000579755.1 - 2 493_494 c.201_202insAT c.(199-204)gaatggfs p.W68fs CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.W68fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.W109fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.N2fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 44 A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M53I(2)|p.0(1)|p.V28_V51del(1)|p.D109H(1)|p.M53T(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGCTGCCCATCATCATGACCTG 0.678 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 18 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118771661 118771662 + Frame_Shift_Ins INS - - C TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr11:118771661_118771662insC ENST00000334801.3 - 6 3754_3755 c.2790_2791insG c.(2788-2793)ggacttfs p.L931fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 931 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GACTTCAAGTGCCCCATGCCCG 0.619 36 47 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23447645 23447646 + Frame_Shift_Ins INS - - T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr14:23447645_23447646insT ENST00000262713.2 - 2 1390_1391 c.1015_1016insA c.(1015-1017)caafs p.Q339fs AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.Q339fs|RP11-298I3.5_ENST00000555074.1_Intron NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 339 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding GTTGCACTTGATACAGGTGCCT 0.540 20 79 --- --- --- --- ZNF594 84622 broad.mit.edu 37 17 5087404 5087404 + Frame_Shift_Del DEL T T - TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr17:5087404delT ENST00000399604.4 - 1 288 c.148delA c.(148-150)gcfs p.S50fs ZNF594_ENST00000575779.1_Frame_Shift_Del_p.S50fs Q96JF6 ZN594_HUMAN zinc finger protein 594 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTTAAAGGGCTTACCCAGTGC 0.458 26 52 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 4 4 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36218439 36218440 + Frame_Shift_Ins INS - - G TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:36218439_36218440insG ENST00000420124.1 + 16 4218_4219 c.4218_4219insG c.(4216-4221)aggggcfs p.RG1406fs WBP7_ENST00000222270.7_Frame_Shift_Ins_p.RG1406fs|KMT2B_ENST00000607650.1_RNA AGGCCCTGAGCGGGGCCCTCCA 0.688 25 69 --- --- --- --- HNRNPUL1 11100 broad.mit.edu 37 19 41770697 41770697 + Frame_Shift_Del DEL G G - TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:41770697delG ENST00000392006.3 + 1 462 c.289delG c.(289-291)gafs p.G97fs HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.G54fs|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.G97fs NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 97 Necessary for interaction with HRMT1L1. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 GGGGCCGGACGGACATTGTGA 0.776 2 4 --- --- --- --- SNRNP70 6625 broad.mit.edu 37 19 49611236 49611236 + Frame_Shift_Del DEL A A - TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 971ca2bc-cd7b-4ce1-a471-81445b85e3a4 20f2c75b-d578-4332-83cb-0e2307d84fff g.chr19:49611236delA ENST00000221448.5 + 10 1019 c.823delA c.(823-825)agfs p.K275fs SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.K284fs NM_003089.4 NP_003080.2 P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 284 Arg/Glu-rich (mixed charge). nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 GAGCAAGGACAAGGACCGGGA 0.751 2 4 --- --- --- ---