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 OR1I1 126370 broad.mit.edu 37 19 15198440 15198440 + Silent SNP C C T rs147792989 byFrequency TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr19:15198440C>T ENST00000209540.2 + 1 650 c.564C>T c.(562-564)tcC>tcT p.S188S NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S188S(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 TGAAGCTCTCCGGCTCAGACA 0.547000 50 36 0 0 1 0 0 MZF1 7593 broad.mit.edu 37 19 59074376 59074376 + Missense_Mutation SNP C C A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr19:59074376C>A ENST00000215057.2 - 6 1828 c.1268G>T c.(1267-1269)cGc>cTc p.R423L MZF1_ENST00000599369.1_Missense_Mutation_p.R423L|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 423 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) GCGCGCGCTGCGCACGAAGCC 0.687000 18 48 1.01871e-10 1.15537e-10 1 1 0 KIAA0319 9856 broad.mit.edu 37 6 24596359 24596359 + Silent SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr6:24596359C>T ENST00000535378.1 - 4 1158 c.516G>A c.(514-516)gaG>gaA p.E172E KIAA0319_ENST00000537886.1_Silent_p.E181E|KIAA0319_ENST00000378214.3_Silent_p.E181E|KIAA0319_ENST00000543707.1_Silent_p.E181E|KIAA0319_ENST00000430948.2_Silent_p.E136E NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 181 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 AGTCCGTGTACTCGGCACTCC 0.637000 31 31 0 0 1 0 0 RASL10B 91608 broad.mit.edu 37 17 34062267 34062267 + Missense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:34062267C>T ENST00000268864.3 + 2 441 c.64C>T c.(64-66)Cgc>Tgc p.R22C NM_033315.3 NP_201572.1 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B 22 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGCCATCGTGCGCCAGTTCTT 0.672000 31 42 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173830397 173830397 + Missense_Mutation SNP G G T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:173830397G>T ENST00000264111.6 + 9 990 c.803G>T c.(802-804)gGt>gTt p.G268V RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G269V|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G269V|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G125V|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G98V|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G49V|RAPGEF4_ENST00000473043.1_3'UTR Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 269 DEP. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) TTAGAAGATGGTGTTCTCAAC 0.502000 4 85 0.00909568 0.00929559 1 1 0 PIK3CA 5290 broad.mit.edu 37 3 178952084 178952084 + Missense_Mutation SNP C C T rs121913281 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr3:178952084C>T ENST00000263967.3 + 21 3296 c.3139C>T c.(3139-3141)Cat>Tat p.H1047Y NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047Y(37) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAATGATGCACATCATGGTGG 0.373000 H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 36 40 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101648744 101648744 + Missense_Mutation SNP T T C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:101648744T>C ENST00000409318.1 - 11 2052 c.1922A>G c.(1921-1923)aAc>aGc p.N641S TBC1D8_ENST00000376840.4_Missense_Mutation_p.N626S NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 626 Rab-GAP TBC. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CACTCGGTGGTTGAAGTAATC 0.532000 28 44 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 32983377 32983377 + Nonsense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:32983377C>T ENST00000317907.4 + 13 1702 c.1471C>T c.(1471-1473)Caa>Taa p.Q491* NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 491 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 AATCCTTAGACAAGAGCTGGA 0.383000 4 87 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11170774 11170774 + Missense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr19:11170774C>T ENST00000358026.2 + 35 5202 c.4918C>T c.(4918-4920)Cgg>Tgg p.R1640W SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1608W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1578W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1608W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1574W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1578W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1577W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1575W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1577W NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1608 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGCACAGGACCGGCTGAAGGG 0.652000 """F, N, Mis""" NSCLC 3 7 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057258 72057258 + Missense_Mutation SNP T T C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr12:72057258T>C ENST00000378743.3 - 1 491 c.133A>G c.(133-135)Agc>Ggc p.S45G ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G|THAP2_ENST00000308086.2_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCGCCGCCGCTGCTGCTGCTG 0.637000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 145 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 5 115 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112686937 112686937 + Missense_Mutation SNP G G T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:112686937G>T ENST00000295408.4 + 2 559 c.302G>T c.(301-303)gGa>gTa p.G101V MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Missense_Mutation_p.G101V Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 101 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity p.G101V(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CACACAGTTGGACACATAATA 0.448000 26 51 1.26454e-06 1.38356e-06 1 1 0 HSPA6 3310 broad.mit.edu 37 1 161495873 161495873 + Missense_Mutation SNP G G C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:161495873G>C ENST00000309758.4 + 1 1838 c.1425G>C c.(1423-1425)caG>caC p.Q475H NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 475 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) GAGTCCCCCAGATAGAGGTGA 0.537000 16 50 0 0 1 0 0 CYP2B7P1 0 broad.mit.edu 37 19 41450388 41450388 + RNA SNP C C G TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr19:41450388C>G ENST00000599198.1 + 0 1171 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CATTGTCACCCAACACACCAG 0.537000 15 19 0 0 1 0 0 IP6K1 9807 broad.mit.edu 37 3 49764567 49764567 + Missense_Mutation SNP G G C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr3:49764567G>C ENST00000321599.4 - 6 1615 c.1314C>G c.(1312-1314)gaC>gaG p.D438E IP6K1_ENST00000395238.1_Missense_Mutation_p.D273E|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000460540.1_Missense_Mutation_p.D273E NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 438 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity p.D438D(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 ACTGGTTCTCGTCCCGCATCT 0.587000 31 28 0 0 1 0 0 ARFRP1 10139 broad.mit.edu 37 20 62331872 62331872 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr20:62331872G>A ENST00000359715.4 - 7 1095 c.529C>T c.(529-531)Cgc>Tgc p.R177C ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000324228.2_Missense_Mutation_p.R177C|ARFRP1_ENST00000440854.1_3'UTR Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 177 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) ATGCCCTCGCGCACCCCTTTG 0.697000 12 184 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2540796 2540796 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:2540796G>A ENST00000288709.6 - 6 730 c.490C>T c.(490-492)Cgc>Tgc p.R164C MMEL1_ENST00000378412.3_Missense_Mutation_p.R173C|MMEL1_ENST00000502556.1_Intron NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 173 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) ATGCAGGAGCGGTACAGCGTC 0.687000 9 12 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167381351 167381351 + Missense_Mutation SNP A A C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:167381351A>C ENST00000367862.5 + 14 1913 c.1678A>C c.(1678-1680)Acc>Ccc p.T560P POU2F1_ENST00000367866.2_Missense_Mutation_p.T571P|POU2F1_ENST00000541643.3_Missense_Mutation_p.T548P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.T508P|POU2F1_ENST00000420254.3_Missense_Mutation_p.T548P NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 548 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CACAACACAGACCACCTCCAC 0.602000 16 59 0 0 1 0 0 GTF3A 2971 broad.mit.edu 37 13 28009312 28009312 + Nonsense_Mutation SNP A A T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr13:28009312A>T ENST00000381140.4 + 8 1110 c.916A>T c.(916-918)Aag>Tag p.K306* GTF3A_ENST00000470606.1_3'UTR NM_002097.2 NP_002088.2 Q92664 TF3A_HUMAN general transcription factor IIIA 306 regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter nucleoplasm DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|lung(1) 2 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158) TCCTGACAAGAAGAAAATGAA 0.338000 29 23 0 0 1 0 0 CD80 941 broad.mit.edu 37 3 119276562 119276562 + Missense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr3:119276562C>T ENST00000264246.3 - 2 376 c.14G>A c.(13-15)cGg>cAg p.R5Q CD80_ENST00000383668.3_Missense_Mutation_p.R5Q|CD80_ENST00000478182.1_Missense_Mutation_p.R5Q|CD80_ENST00000383669.3_Missense_Mutation_p.R5Q NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 5 interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) TCCCTGCCTCCGTGTGTGGCC 0.498000 9 17 0 0 1 0 0 DHRS7C 201140 broad.mit.edu 37 17 9676126 9676126 + Missense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:9676126C>T ENST00000330255.4 - 5 700 c.688G>A c.(688-690)Gtg>Atg p.V230M DHRS7C_ENST00000571134.1_Missense_Mutation_p.V229M NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 230 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TCTGGATACACGTGGTACGAC 0.582000 32 7 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24566850 24566850 + Missense_Mutation SNP C C A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr6:24566850C>A ENST00000535378.1 - 15 2882 c.2240G>T c.(2239-2241)cGg>cTg p.R747L KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 756 PKD 5. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTGGCCATCCCGGATCCACAG 0.463000 10 78 6.42651e-13 7.37859e-13 1 1 0 MED4 29079 broad.mit.edu 37 13 48654103 48654103 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr13:48654103G>A ENST00000258648.2 - 6 542 c.517C>T c.(517-519)Cgg>Tgg p.R173W MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R127W NM_014166.2 NP_054885.1 Q9NPJ6 MED4_HUMAN mediator complex subunit 4 173 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;5.18e-07) TAGGGTCTCCGGGGGTCCCCT 0.393000 14 28 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152554983 152554983 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr6:152554983G>A ENST00000367255.5 - 112 21246 c.20645C>T c.(20644-20646)tCg>tTg p.S6882L SYNE1_ENST00000341594.5_Missense_Mutation_p.S6494L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6882L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1406L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6882 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) ATCAATGCGCGACAGCTCAGA 0.512000 HNSCC(10;0.0054) 24 38 0 0 1 0 0 DHX58 79132 broad.mit.edu 37 17 40253875 40253875 + Missense_Mutation SNP G G C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:40253875G>C ENST00000251642.3 - 14 2163 c.1941C>G c.(1939-1941)atC>atG p.I647M NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 647 RNA-binding. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TTTTGGCCTGGATCCGCCCCT 0.592000 OREG0024418 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 60 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29879422 29879422 + Silent SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr22:29879422G>A ENST00000310624.6 + 2 975 c.942G>A c.(940-942)gcG>gcA p.A314A NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 314 Coil 2B.|Rod. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 TGCGCTCAGCGCAGGAGGAGA 0.612000 49 152 0 0 1 0 0 MSRB3 253827 broad.mit.edu 37 12 65857094 65857094 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr12:65857094G>A ENST00000308259.5 + 7 824 c.550G>A c.(550-552)Gag>Aag p.E184K MSRB3_ENST00000535664.1_Missense_Mutation_p.E184K|MSRB3_ENST00000355192.3_Missense_Mutation_p.E191K NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 191 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) AGACAAAGCGGAGCTCTAGAG 0.448000 18 31 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66082813 66082813 + Silent SNP A A G TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr11:66082813A>G ENST00000311330.3 - 1 1702 c.1686T>C c.(1684-1686)ggT>ggC p.G562G RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 562 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GTAGCTGGGCACCGAGGGTGG 0.622000 47 54 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179195869 179195869 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr5:179195869G>A ENST00000292599.3 + 3 2013 c.1750G>A c.(1750-1752)Gtc>Atc p.V584I MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 584 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTTCCAGTGTCCCTGTGCA 0.562000 67 149 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269569 150269569 + Silent SNP C C A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr7:150269569C>A ENST00000255945.2 + 3 586 c.411C>A c.(409-411)atC>atA p.I137I GIMAP4_ENST00000461940.1_Silent_p.I151I|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 137 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGAGAAGATCCTGAAAATGT 0.483000 17 44 1.15088e-07 1.27419e-07 1 1 0 MAZ 4150 broad.mit.edu 37 16 29821543 29821543 + Missense_Mutation SNP A A T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr16:29821543A>T ENST00000322945.6 + 5 1590 c.1425A>T c.(1423-1425)caA>caT p.Q475H MAZ_ENST00000566906.2_Missense_Mutation_p.T130S|MAZ_ENST00000545521.1_Missense_Mutation_p.Q452H|MAZ_ENST00000568544.1_Missense_Mutation_p.Q76H|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000563402.1_Missense_Mutation_p.T132S|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000562337.1_Missense_Mutation_p.Q170H NM_002383.2 NP_002374.2 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 475 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 TTCCCTCCCAACCCTGGTGAG 0.637000 15 6 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14741318 14741318 + Silent SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr7:14741318G>A ENST00000403951.2 - 7 923 c.504C>T c.(502-504)ttC>ttT p.F168F DGKB_ENST00000407950.1_Silent_p.F161F|DGKB_ENST00000406247.3_Silent_p.F168F|DGKB_ENST00000402815.1_Silent_p.F168F|DGKB_ENST00000399322.3_Silent_p.F168F|DGKB_ENST00000258767.5_Silent_p.F168F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Silent_p.F161F Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 168 EF-hand 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) AGCTGTCCAGGAAGCCATTCC 0.328000 8 25 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83826061 83826061 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr4:83826061G>A ENST00000302236.5 + 2 304 c.253G>A c.(253-255)Gtg>Atg p.V85M NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 85 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) AAAAGGAGCTGTGCCTTCTGT 0.363000 8 17 0 0 1 0 0 MZF1 7593 broad.mit.edu 37 19 59074528 59074528 + Silent SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr19:59074528C>T ENST00000215057.2 - 6 1676 c.1116G>A c.(1114-1116)ctG>ctA p.L372L MZF1_ENST00000599369.1_Silent_p.L372L|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_Silent_p.*291*|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 372 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) TCTGGTGCCTCAGCAGGTTGC 0.687000 22 43 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37881332 37881332 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:37881332G>A ENST00000406381.2 + 23 2944 c.2434G>A c.(2434-2436)Gta>Ata p.V812I ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 842 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V842I(6) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TGTGCGGCTCGTACACAGGGA 0.597000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 43 57 0 0 1 0 0 RTCB 51493 broad.mit.edu 37 22 32784075 32784075 + Silent SNP G G T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr22:32784075G>T ENST00000216038.5 - 12 1520 c.1422C>A c.(1420-1422)tcC>tcA p.S474S RTCB_ENST00000451746.2_3'UTR NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase CATTCTTATAGGACTCAGGAG 0.403000 3 18 0.00024832 0.000265446 1 1 0 MAP3K4 4216 broad.mit.edu 37 6 161530808 161530808 + Nonsense_Mutation SNP G G T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr6:161530808G>T ENST00000392142.4 + 23 4406 c.4258G>T c.(4258-4260)Gag>Tag p.E1420* MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E1366*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E1370*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E1416* NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1420 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CATCTTCATGGAGTACTGCGA 0.443000 35 33 9.04072e-19 1.05098e-18 1 1 0 CCL1 6346 broad.mit.edu 37 17 32687649 32687649 + Missense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:32687649C>T ENST00000225842.3 - 3 289 c.220G>A c.(220-222)Gcc>Acc p.A74T NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 74 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) GTGTCCAAGGCGCAGGCCTCT 0.522000 56 89 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17488843 17488843 + Silent SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr22:17488843C>T ENST00000400588.1 - 1 269 c.162G>A c.(160-162)aaG>aaA p.K54K GAB4_ENST00000523144.1_5'UTR NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 54 PH. breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) AGAGCCTCAGCTTCTTCTCGG 0.697000 8 13 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153251907 153251907 + Nonsense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr4:153251907G>A ENST00000281708.4 - 7 2328 c.1099C>T c.(1099-1101)Cga>Tga p.R367* FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R287*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R191*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R249* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 367 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R367*(10)|p.R287*(3)|p.R128*(3)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTTCTCCTCGCCTCCAGTTA 0.388000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 17 33 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 7 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46329516 46329516 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr19:46329516G>A ENST00000245934.7 - 17 2541 c.2297C>T c.(2296-2298)cCg>cTg p.P766L NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 766 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CAGCACAGACGGTGGGTTGGG 0.572000 6 17 0 0 1 0 0 LMO3 55885 broad.mit.edu 37 12 16704161 16704161 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr12:16704161G>A ENST00000320122.6 - 4 955 c.433C>T c.(433-435)Cgc>Tgc p.R145C LMO3_ENST00000537304.1_Missense_Mutation_p.R145C|LMO3_ENST00000541846.1_Missense_Mutation_p.R145C|LMO3_ENST00000447609.1_Missense_Mutation_p.R145C|LMO3_ENST00000541295.1_Missense_Mutation_p.R163C|LMO3_ENST00000441439.2_Missense_Mutation_p.R145C|LMO3_ENST00000354662.1_Missense_Mutation_p.R145C|LMO3_ENST00000540848.1_Missense_Mutation_p.R145C|LMO3_ENST00000534946.1_Missense_Mutation_p.R145C|LMO3_ENST00000535535.1_Missense_Mutation_p.R145C|LMO3_ENST00000261169.6_Missense_Mutation_p.R156C|LMO3_ENST00000540445.1_Missense_Mutation_p.R167C NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) ATAGATCAGCGAACCTGGGGT 0.378000 28 12 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7188289 7188289 + Missense_Mutation SNP C C A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr3:7188289C>A ENST00000486284.1 + 2 944 c.670C>A c.(670-672)Ctc>Atc p.L224I GRM7_ENST00000389336.4_Missense_Mutation_p.L224I|GRM7_ENST00000402647.2_Missense_Mutation_p.L224I|GRM7_ENST00000357716.4_Missense_Mutation_p.L224I|GRM7_ENST00000403881.1_Missense_Mutation_p.L224I NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 224 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TGTGTCTACCCTCGCATCGGA 0.522000 8 48 0.00621372 0.00649298 1 1 0 ABCA4 24 broad.mit.edu 37 1 94528265 94528265 + Missense_Mutation SNP C C T rs61749410 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:94528265C>T ENST00000370225.3 - 13 1891 c.1805G>A c.(1804-1806)cGg>cAg p.R602Q ABCA4_ENST00000535735.1_Missense_Mutation_p.R602Q NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 602 R -> Q (in STGD1).|R -> W (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCAGATGTACCGGAAATCTTC 0.557000 23 24 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70607151 70607151 + Missense_Mutation SNP A A G TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chrX:70607151A>G ENST00000449580.1 + 15 2315 c.2264A>G c.(2263-2265)cAt>cGt p.H755R TAF1_ENST00000276072.3_Missense_Mutation_p.H776R|TAF1_ENST00000423759.1_Missense_Mutation_p.H776R|TAF1_ENST00000373790.4_Missense_Mutation_p.H755R P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 755 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) ATTTATCTTCATAAGATGCCA 0.373000 67 13 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6506275 6506275 + Splice_Site SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr10:6506275G>A ENST00000263125.5 - 13 1544 c.1445_splice c.e13+1 p.T482_splice PRKCQ_ENST00000539722.1_Splice_Site_p.T357_splice|PRKCQ_ENST00000397176.2_Splice_Site_p.T482_splice NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 482 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 AGCCTCTTACGTCGCTCTGGA 0.458000 175 210 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48603954 48603954 + Missense_Mutation SNP C C G TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr3:48603954C>G ENST00000328333.8 - 112 8454 c.8347G>C c.(8347-8349)Gct>Cct p.A2783P COL7A1_ENST00000454817.1_Missense_Mutation_p.A2751P NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2783 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTCAGTGCAGCTTCTCCCTTC 0.672000 7 106 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71743757 71743757 + Missense_Mutation SNP A A G TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr7:71743757A>G ENST00000395275.2 - 3 546 c.158T>C c.(157-159)tTg>tCg p.L53S CALN1_ENST00000431984.1_Missense_Mutation_p.L11S|CALN1_ENST00000395276.2_Missense_Mutation_p.L11S|CALN1_ENST00000405452.2_Missense_Mutation_p.L11S|CALN1_ENST00000412588.1_Missense_Mutation_p.L53S|CALN1_ENST00000329008.5_Missense_Mutation_p.L11S NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 11 EF-hand 1. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CCCCTTGTACAACAAGCCGGC 0.522000 12 27 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74137476 74137476 + Missense_Mutation SNP T T C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr5:74137476T>C ENST00000389156.4 - 2 116 c.26A>G c.(25-27)gAa>gGa p.E9G FAM169A_ENST00000510496.1_Missense_Mutation_p.E9G|FAM169A_ENST00000380515.3_Missense_Mutation_p.E9G NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 9 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 GCTGCAATTTTCCAGCATATC 0.378000 10 41 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37049341 37049341 + Missense_Mutation SNP C C T rs80358376 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr5:37049341C>T ENST00000282516.8 + 40 7391 c.6892C>T c.(6892-6894)Cgc>Tgc p.R2298C NIPBL_ENST00000448238.2_Missense_Mutation_p.R2298C NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2298 R -> C (in CDLS1).|R -> H (in CDLS1). brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GTCAAGTGTACGCCACTTTGC 0.413000 21 134 0 0 1 0 0 VPS53 55275 broad.mit.edu 37 17 556625 556625 + Missense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:556625C>T ENST00000437048.2 - 7 660 c.514G>A c.(514-516)Gga>Aga p.G172R VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.G172R|VPS53_ENST00000291074.5_Missense_Mutation_p.G143R|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000576149.1_Intron NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 172 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GCAACTTCTCCGTATTGTCTT 0.458000 21 26 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127670549 127670549 + Missense_Mutation SNP C C G TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr7:127670549C>G ENST00000249363.3 - 2 402 c.145G>C c.(145-147)Gtc>Ctc p.V49L SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 49 LRRNT. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) CACGAGCAGACGGAGGGGCAG 0.647000 5 126 0 0 1 0 0 SAP130 79595 broad.mit.edu 37 2 128757879 128757879 + Splice_Site SNP A A C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:128757879A>C ENST00000357702.5 - 8 1227 c.e8+1 SAP130_ENST00000259234.6_Splice_Site|SAP130_ENST00000259235.3_Splice_Site NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TTTTGGTTTTACCTGAGCCAT 0.483000 13 51 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78346514 78346514 + Missense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:78346514C>T ENST00000582970.1 + 48 12874 c.12731C>T c.(12730-12732)tCg>tTg p.S4244L CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4293L|RNF213_ENST00000336301.6_Missense_Mutation_p.S2317L|CTD-2047H16.4_ENST00000575034.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 280 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GATTTCCTCTCGGAGCCTGAG 0.557000 23 26 0 0 1 0 0 LZTS1 11178 broad.mit.edu 37 8 20107496 20107496 + Missense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr8:20107496C>T ENST00000381569.1 - 4 1885 c.1528G>A c.(1528-1530)Gag>Aag p.E510K LZTS1_ENST00000522290.1_Intron|LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 510 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TCCCGCAGCTCGGCCCGCAGC 0.701000 36 13 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41265493 41265493 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr19:41265493G>A ENST00000243563.3 + 3 954 c.404G>A c.(403-405)gGg>gAg p.G135E SNRPA_ENST00000599570.1_3'UTR NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 135 nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCCGTGGTGGGGGCTGTCCAG 0.682000 31 25 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911930 101911930 + Missense_Mutation SNP G G T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chrX:101911930G>T ENST00000537097.1 + 6 3902 c.3089G>T c.(3088-3090)tGt>tTt p.C1030F GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1030F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1030F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.C1030F NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1030 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGGTCCACGTGTTCAGTTGAA 0.562000 4 131 1 1 1 1 0 EXO1 9156 broad.mit.edu 37 1 242042601 242042601 + Missense_Mutation SNP G G C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:242042601G>C ENST00000366548.3 + 13 2658 c.2065G>C c.(2065-2067)Gca>Cca p.A689P EXO1_ENST00000348581.5_Missense_Mutation_p.A689P|EXO1_ENST00000518483.1_Missense_Mutation_p.A689P NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 689 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) GAGTTCAAATGCATCAAAGCT 0.413000 Editing and processing nucleases 17 22 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214029 7214029 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr10:7214029G>A ENST00000361972.4 - 19 2333 c.2243C>T c.(2242-2244)tCg>tTg p.S748L SFMBT2_ENST00000397167.1_Missense_Mutation_p.S748L NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 748 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CTCCGCCGACGAGGTGTCCGT 0.711000 5 22 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3600104 3600104 + Missense_Mutation SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr5:3600104G>A ENST00000302006.3 + 2 1094 c.1042G>A c.(1042-1044)Gcc>Acc p.A348T CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 348 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 cgggccctccgccggggcgcc 0.706000 7 0 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72799764 72799764 + Missense_Mutation SNP C C G TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr3:72799764C>G ENST00000325599.8 - 11 1544 c.1405G>C c.(1405-1407)Gaa>Caa p.E469Q SHQ1_ENST00000463369.1_Missense_Mutation_p.E441Q|SHQ1_ENST00000468371.1_5'UTR NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 469 Ser-rich. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) CCTGAGTCTTCGTTTCCAGAT 0.473000 16 19 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162746131 162746131 + Missense_Mutation SNP C C T rs121964863 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:162746131C>T ENST00000367922.2 + 17 2692 c.2254C>T c.(2254-2256)Cgc>Tgc p.R752C DDR2_ENST00000367921.3_Missense_Mutation_p.R752C NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 752 Protein kinase. R -> C (in SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GCTCCCTATCCGCTGGATGTC 0.502000 7 111 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139865785 139865785 + Silent SNP G G A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chrX:139865785G>A ENST00000370532.2 - 1 938 c.747C>T c.(745-747)acC>acT p.T249T NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 249 breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) AAGAAATCCAGGTCTTCCAGT 0.418000 96 12 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004287 75004287 + Missense_Mutation SNP C C A TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chrX:75004287C>A ENST00000373359.2 - 1 792 c.600G>T c.(598-600)tgG>tgT p.W200C NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 200 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCAGCAAGTCCCAAATGGAGG 0.512000 18 26 3.41278e-10 3.82396e-10 1 1 0 KBTBD7 84078 broad.mit.edu 37 13 41768108 41768108 + Missense_Mutation SNP A A C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr13:41768108A>C ENST00000379483.3 - 1 594 c.286T>G c.(286-288)Ttc>Gtc p.F96V NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 96 BTB. protein binding p.Y95fs*42(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) ATGCTCTTGAAGTAGGGACAC 0.602000 20 27 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19642904 19642904 + Missense_Mutation SNP C C T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:19642904C>T ENST00000457500.2 - 7 1362 c.1033G>A c.(1033-1035)Gtg>Atg p.V345M ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V272M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V345M|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.V281M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V345M NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 345 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) AGGCTGCGCACGCACACGATG 0.632000 9 19 0 0 1 0 0 MS4A15 219995 broad.mit.edu 37 11 60541407 60541407 + Missense_Mutation SNP A A T TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr11:60541407A>T ENST00000405633.3 + 6 675 c.596A>T c.(595-597)cAt>cTt p.H199L MS4A15_ENST00000337911.4_Missense_Mutation_p.H106L|MS4A15_ENST00000528170.1_Missense_Mutation_p.H158L NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 199 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 CAAGCCATCCATGCCCAGGCC 0.607000 57 6 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11711183 11711183 + Missense_Mutation SNP G G A rs146734343 byFrequency TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr17:11711183G>A ENST00000262442.3 + 44 8623 c.8555G>A c.(8554-8556)cGc>cAc p.R2852H DNAH9_ENST00000454412.2_Missense_Mutation_p.R2852H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2852 AAA 4 (By similarity). 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) ATCACACTGCGCAAAGGCTAC 0.557000 3 32 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945182 16945184 + RNA DEL AAT AAT - rs59197507 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:16945182_16945184delAAT ENST00000412962.1 - 0 2335_2337 TACTGATGAAAATAATAACAGAT 0.325 4 9 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16951775 16951776 + RNA INS - - ATT rs148059330 by1000genomes TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:16951775_16951776insATT ENST00000412962.1 - 0 1000 TAATCTGTATCAttattattat 0.431 4 3 --- --- --- --- RP11-567C20.3 0 broad.mit.edu 37 1 50680480 50680480 + RNA DEL C C - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:50680480delC ENST00000440897.1 - 0 25 GTTGCAGATACCCCCCAGCCC 0.607 2 4 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143183213 143183213 + RNA DEL A A - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:143183213delA ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA ctaaagcaggagcaggaggat 0.423 3 3 --- --- --- --- RP11-435B5.7 0 broad.mit.edu 37 1 143532972 143532973 + RNA INS - - G rs111952315 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:143532972_143532973insG ENST00000418607.2 - 0 204 TAACAAACTTTTTTTTTGTCTT 0.317 3 6 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144011657 144011658 + RNA INS - - G rs66670828 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:144011657_144011658insG ENST00000467933.1 + 0 915 GGttcttttttttgttgtttgt 0.520 3 4 --- --- --- --- RP11-403I13.7 0 broad.mit.edu 37 1 149285546 149285547 + RNA INS - - A rs144216017 by1000genomes TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr1:149285546_149285547insA ENST00000424684.1 + 0 254 NR_046136.1|NR_046138.1|NR_046139.1 ttctgtctctcaaaaaaaaTGC 0.525 4 5 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65894933 65894933 + RNA DEL A A - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:65894933delA ENST00000377977.3 + 0 862 TCAGAGGTTTAAAAAAAAAAA 0.517 4 8 --- --- --- --- AC079305.8 0 broad.mit.edu 37 2 178063463 178063463 + RNA DEL T T - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:178063463delT ENST00000455416.1 - 0 166 ATTCAATTGCttttttttttt 0.577 3 5 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217578817 217578817 + RNA DEL C C - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:217578817delC ENST00000447289.1 + 0 388 TATGACAGCACCCCCACTGAC 0.458 2 4 --- --- --- --- AC131097.3 0 broad.mit.edu 37 2 242851021 242851021 + RNA DEL T T - rs147815662 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:242851021delT ENST00000430555.1 + 0 192 AC131097.3_ENST00000429947.1_RNA|AC131097.3_ENST00000457686.1_RNA|AC131097.3_ENST00000415434.1_RNA gacctcagacttccggtcccc 0.587 4 2 --- --- --- --- AC131097.3 0 broad.mit.edu 37 2 242980560 242980560 + RNA DEL G G - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr2:242980560delG ENST00000415434.1 + 0 310 GCCACTCTGTGGGGAGTCACG 0.488 2 4 --- --- --- --- RP11-260O18.1 0 broad.mit.edu 37 3 82386024 82386025 + RNA DEL GT GT - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr3:82386024_82386025delGT ENST00000470263.1 + 0 472 gttttgcacggtgtgtgtgtgt 0.416 2 4 --- --- --- --- CUL9 23113 broad.mit.edu 37 6 43155158 43155159 + Frame_Shift_Del DEL TT TT - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr6:43155158_43155159delTT ENST00000252050.4 + 6 1646_1647 c.1562_1563delTT c.(1561-1563)cfs p.L521fs CUL9_ENST00000372647.2_Frame_Shift_Del_p.L521fs|CUL9_ENST00000354495.3_Intron NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 521 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TTCCAGAATCTTTGGAAGAACC 0.450 62 64 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100384030 100384033 + RNA DEL TTGT TTGT - rs71973809 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr7:100384030_100384033delTTGT ENST00000542585.1 + 0 7124 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ttttcttttcttgtttgtttgttt 0.505 4 2 --- --- --- --- RP11-262H14.1 0 broad.mit.edu 37 9 66463991 66463992 + RNA DEL TT TT - rs3068011 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr9:66463991_66463992delTT ENST00000424345.1 + 0 224 AGCCATTCTCTTTTCATTCCCC 0.446 2 4 --- --- --- --- RP11-834C11.3 0 broad.mit.edu 37 12 54503718 54503718 + RNA DEL G G - rs79863277 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr12:54503718delG ENST00000515617.1 + 0 311 NR_026655.1 GGTAGTCCCCGCCGTGGTTCT 0.607 2 4 --- --- --- --- RP11-13G14.4 0 broad.mit.edu 37 12 108870050 108870050 + RNA DEL C C - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr12:108870050delC ENST00000502160.2 - 0 1196 CATCCCCCTGCCCCCCAATAA 0.572 2 4 --- --- --- --- NOVA1 4857 broad.mit.edu 37 14 26941517 26941517 + Frame_Shift_Del DEL A A - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr14:26941517delA ENST00000547619.1 - 4 586 c.528delT c.(526-528)tafs p.Y176fs NOVA1_ENST00000344429.5_Intron|NOVA1_ENST00000267422.7_Intron|NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000465357.2_Intron P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 0 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGACAGGATGATACTGTACCT 0.438 6 7 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5578597 5578598 + RNA INS - - TC TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr16:5578597_5578598insTC ENST00000569895.1 + 0 343 CCCCAATTCATTCTCTCTCTCT 0.475 2 4 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr16:30736370_30736371insC ENST00000262518.4 + 25 6010_6011 c.5625_5626insC c.(5623-5628)caccccfs p.HP1875fs SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 7 156 --- --- --- --- ABHD17A 81926 broad.mit.edu 37 19 1877579 1877579 + Frame_Shift_Del DEL G G - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr19:1877579delG ENST00000292577.7 - 4 1068 c.635delC c.(634-636)tgfs p.S212fs ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.S263fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.R182fs NM_001130111.1 NP_001123583.1 abhydrolase domain containing 17A GGTGAGCGGCGAGTGCAGCAC 0.692 7 37 --- --- --- --- CTC-525D6.1 0 broad.mit.edu 37 19 29859695 29859695 + RNA DEL G G - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr19:29859695delG ENST00000582581.1 - 0 2030 NR_040029.1 aaaaaTGACAGGGTGGCCCAA 0.537 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11061894 11061894 + RNA DEL G G - rs56157850 TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr21:11061894delG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAAAGGAAAAGTTATGTATAT 0.318 5 5 --- --- --- --- RP11-191L9.4 0 broad.mit.edu 37 22 48109485 48109485 + RNA DEL G G - TCGA-N5-A4RJ-01A-11D-A28R-08 TCGA-N5-A4RJ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f3072d-c24a-4583-95bc-4967588e6d82 623428f9-997a-484d-98e4-f6ef172d75a3 g.chr22:48109485delG ENST00000423737.1 + 0 982 TTCCAGATCTGGGGGTGGTGG 0.522 2 4 --- --- --- ---