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 ADORA3 140 broad.mit.edu 37 1 112042634 112042634 + Missense_Mutation SNP C C A TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr1:112042634C>A ENST00000241356.4 - 2 1300 c.895G>T c.(895-897)Gct>Tct p.A299S ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 299 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled p.A299T(1) NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) ACCACACAAGCTTTGAGGATC 0.438 23 35 --- --- --- --- TXNIP 10628 broad.mit.edu 37 1 145441198 145441198 + Missense_Mutation SNP C C T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr1:145441198C>T ENST00000369317.4 + 8 1490 c.1156C>T c.(1156-1158)Ctc>Ttc p.L386F TXNIP_ENST00000475171.1_3'UTR NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 386 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCCCTGCATCCTCAACAACAA 0.393 15 24 --- --- --- --- TXNIP 10628 broad.mit.edu 37 1 145441200 145441200 + Silent SNP C C T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr1:145441200C>T ENST00000369317.4 + 8 1492 c.1158C>T c.(1156-1158)ctC>ctT p.L386L TXNIP_ENST00000475171.1_3'UTR NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 386 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding p.N389delN(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCTGCATCCTCAACAACAATG 0.393 14 24 --- --- --- --- OR10J3 441911 broad.mit.edu 37 1 159283812 159283812 + Missense_Mutation SNP C C G TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr1:159283812C>G ENST00000332217.5 - 1 637 c.638G>C c.(637-639)gGc>gCc p.G213A NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AAAGACCAGGCCCATAGGTAG 0.502 44 81 --- --- --- --- GPA33 10223 broad.mit.edu 37 1 167024285 167024285 + Missense_Mutation SNP A A G TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr1:167024285A>G ENST00000367868.3 - 6 1098 c.755T>C c.(754-756)aTt>aCt p.I252T GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 252 integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GATGATGCCAATGATAATGAG 0.582 34 74 --- --- --- --- THADA 63892 broad.mit.edu 37 2 43625211 43625211 + Missense_Mutation SNP T T C TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr2:43625211T>C ENST00000405006.4 - 29 4477 c.4126A>G c.(4126-4128)Ata>Gta p.I1376V THADA_ENST00000405975.2_Missense_Mutation_p.I1376V|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000330266.7_Intron NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1376 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ATGTGATCTATCATAACAAAT 0.478 32 75 --- --- --- --- SLC4A10 57282 broad.mit.edu 37 2 162804174 162804174 + Silent SNP T T C TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr2:162804174T>C ENST00000375514.5 + 17 2432 c.2145T>C c.(2143-2145)ttT>ttC p.F715F SLC4A10_ENST00000272716.5_Silent_p.F704F|SLC4A10_ENST00000421911.1_Silent_p.F734F|SLC4A10_ENST00000415876.2_Silent_p.F704F|SLC4A10_ENST00000446997.1_Silent_p.F734F NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 734 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TCCTGTTCTTTTCCACAGTTA 0.413 31 88 --- --- --- --- TMEM45A 55076 broad.mit.edu 37 3 100287665 100287665 + Splice_Site SNP G G C TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr3:100287665G>C ENST00000403410.1 + 7 1256 c.e7-1 TMEM45A_ENST00000323523.4_Splice_Site Q9NWC5 TM45A_HUMAN transmembrane protein 45A integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 CTAAATTACAGATTGGATTTG 0.348 13 47 --- --- --- --- DIRC2 84925 broad.mit.edu 37 3 122552285 122552285 + Missense_Mutation SNP A A C TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr3:122552285A>C ENST00000261038.5 + 4 1223 c.825A>C c.(823-825)agA>agC p.R275S NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 275 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) GCGTTTGTAGATTATTAAGGT 0.398 30 55 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152647580 152647580 + Silent SNP G G A TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr6:152647580G>A ENST00000367255.5 - 79 15745 c.15144C>T c.(15142-15144)aaC>aaT p.N5048N SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000448038.1_Silent_p.N4977N|SYNE1_ENST00000341594.5_Silent_p.N4795N|SYNE1_ENST00000423061.1_Silent_p.N4977N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5048 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCTCCTCCAGGTTACTATGGA 0.512 HNSCC(10;0.0054) 19 42 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158510938 158510938 + Missense_Mutation SNP A A T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr6:158510938A>T ENST00000355585.4 + 25 3599 c.3524A>T c.(3523-3525)gAg>gTg p.E1175V SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1175V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1130V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.E260V NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1175 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AATGCCCAGGAGGCAGAAGCA 0.493 3 15 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103341383 103341383 + Silent SNP C C T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr7:103341383C>T ENST00000428762.1 - 9 1035 c.876G>A c.(874-876)gcG>gcA p.A292A RELN_ENST00000343529.5_Silent_p.A292A|RELN_ENST00000424685.2_Silent_p.A292A NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 292 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAATCCAGTCCGCAGAGTTAT 0.358 12 58 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140481402 140481402 + Missense_Mutation SNP C C G rs121913358 TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr7:140481402C>G ENST00000288602.6 - 11 1466 c.1406G>C c.(1405-1407)gGa>gCa p.G469A NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 469 Protein kinase. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). 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.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5) 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) GTAGACTGTTCCAAATGATCC 0.373 G469A(NCIH1395_LUNG)|G469A(NCIH1755_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 23 84 --- --- --- --- PPP1R42 286187 broad.mit.edu 37 8 67900709 67900709 + Missense_Mutation SNP A A G TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr8:67900709A>G ENST00000522909.1 - 6 780 c.596T>C c.(595-597)aTt>aCt p.I199T PPP1R42_ENST00000324682.5_Missense_Mutation_p.I199T Q7Z4L9 LRC67_HUMAN protein phosphatase 1, regulatory subunit 42 199 ATTTAGATCAATTTTCCACAG 0.308 5 9 --- --- --- --- LRRC55 219527 broad.mit.edu 37 11 56949994 56949994 + Silent SNP C C T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr11:56949994C>T ENST00000497933.1 + 1 774 c.627C>T c.(625-627)gaC>gaT p.D209D NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 179 LRRCT. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 AGCTCCGAGACCTGGACCTCA 0.652 27 58 --- --- --- --- PPP1CA 5499 broad.mit.edu 37 11 67167115 67167115 + Missense_Mutation SNP T T A TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr11:67167115T>A ENST00000376745.4 - 4 588 c.440A>T c.(439-441)aAa>aTa p.K147I PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I NM_001008709.1|NM_002708.3 NP_001008709.1|NP_002699.1 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha isozyme 147 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TTTCCACAGTTTGATGTTGTA 0.607 5 31 --- --- --- --- PPP2R1B 5519 broad.mit.edu 37 11 111625227 111625227 + Missense_Mutation SNP A A C TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr11:111625227A>C ENST00000527614.1 - 8 1090 c.1025T>G c.(1024-1026)aTa>aGa p.I342R PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I342R|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I342R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I278R|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I215R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 342 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) GTTTACCTTTATATAAGGCAG 0.294 11 18 --- --- --- --- SLC4A8 9498 broad.mit.edu 37 12 51882523 51882523 + Missense_Mutation SNP G G T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr12:51882523G>T ENST00000453097.2 + 18 2544 c.2327G>T c.(2326-2328)gGc>gTc p.G776V SLC4A8_ENST00000358657.3_Missense_Mutation_p.G803V NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 776 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) AATCCCATTGGCCCCAATCCC 0.393 27 73 --- --- --- --- USP30 84749 broad.mit.edu 37 12 109523652 109523652 + Silent SNP G G T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr12:109523652G>T ENST00000257548.5 + 13 1563 c.1470G>T c.(1468-1470)ctG>ctT p.L490L USP30_ENST00000392784.2_Silent_p.L459L NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 490 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 AGGAGGTCCTGTCCTCCAGCG 0.597 5 34 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73581030 73581030 + Missense_Mutation SNP G G A TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr14:73581030G>A ENST00000261973.7 + 18 2713 c.2428G>A c.(2428-2430)Gat>Aat p.D810N RBM25_ENST00000527432.1_Missense_Mutation_p.D810N|RBM25_ENST00000532483.1_3'UTR NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 810 PWI. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) CATTTTAGATGATGTTGCCAT 0.259 19 50 --- --- --- --- HEATR3 55027 broad.mit.edu 37 16 50136206 50136206 + Missense_Mutation SNP G G T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr16:50136206G>T ENST00000299192.7 + 14 1971 c.1780G>T c.(1780-1782)Gat>Tat p.D594Y HEATR3_ENST00000285767.4_Missense_Mutation_p.D508Y|RP11-429P3.5_ENST00000566770.1_RNA NM_182922.2 NP_891552.1 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 594 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 TACCACCAAAGATCCTTCCCT 0.398 32 79 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27614574 27614574 + Missense_Mutation SNP T T A TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr17:27614574T>A ENST00000225388.4 - 2 496 c.438A>T c.(436-438)aaA>aaT p.K146N NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 146 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) TAATTCCTGCTTTCCCAAAGG 0.408 14 78 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696644 47696644 + Missense_Mutation SNP A A C TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr17:47696644A>C ENST00000393331.3 - 6 774 c.304T>G c.(304-306)Ttc>Gtc p.F102V SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 102 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAGAATTTGAATTTTGCCCGA 0.408 Prostate(2;0.17) 24 46 --- --- --- --- DSG1 1828 broad.mit.edu 37 18 28934953 28934953 + Missense_Mutation SNP G G A TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr18:28934953G>A ENST00000257192.4 + 15 3006 c.2794G>A c.(2794-2796)Ggc>Agc p.G932S RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G291S|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 932 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ACCAACTTCCGGCATGATAGG 0.468 65 165 --- --- --- --- PPFIA3 8541 broad.mit.edu 37 19 49653359 49653359 + Silent SNP G G C TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr19:49653359G>C ENST00000334186.4 + 29 3898 c.3549G>C c.(3547-3549)cgG>cgC p.R1183R PPFIA3_ENST00000602351.1_Silent_p.R1174R NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 1183 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GGAGTTCCCGGGCAGACGGCG 0.652 4 17 --- --- --- --- LAMA5 3911 broad.mit.edu 37 20 60887332 60887332 + Missense_Mutation SNP C C T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr20:60887332C>T ENST00000252999.3 - 69 9467 c.9401G>A c.(9400-9402)cGc>cAc p.R3134H NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3134 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGCGCCAGGCGAAGGAAGCC 0.682 3 24 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41551004 41551004 + Nonsense_Mutation SNP G G A TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr21:41551004G>A ENST00000400454.1 - 15 3274 c.2797C>T c.(2797-2799)Cag>Tag p.Q933* NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 933 Fibronectin type-III 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTGGTTCTCTGAGCAGAATCC 0.448 14 35 --- --- --- --- SGSM3 27352 broad.mit.edu 37 22 40805725 40805725 + Missense_Mutation SNP G G C TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr22:40805725G>C ENST00000248929.9 + 22 2401 c.2212G>C c.(2212-2214)Gtg>Ctg p.V738L NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 738 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 GGACATGCTGGTGAAGCACCA 0.667 35 92 --- --- --- --- CYBB 1536 broad.mit.edu 37 X 37660566 37660566 + Missense_Mutation SNP T T A TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chrX:37660566T>A ENST00000378588.4 + 8 929 c.862T>A c.(862-864)Ttt>Att p.F288I CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I|CYBB_ENST00000536160.1_Missense_Mutation_p.F21I|TM4SF2_ENST00000465127.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 288 FAD-binding FR-type. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 GTTGGTGCGGTTTTGGCGATC 0.408 61 42 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33226030 33226030 + Frame_Shift_Del DEL T T - TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 914ddd96-a9b1-469b-8114-ed57c1184729 dcb67253-4e94-409e-a5cf-5a86196c1877 g.chr13:33226030delT ENST00000315596.10 + 3 384 c.198delT c.(196-198)gatfs p.D66fs NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 66 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TTGCTTCAGATTTTTTTCTCA 0.383 32 82 --- --- --- ---