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 TTC4 7268 broad.mit.edu 37 1 55207175 55207175 + Missense_Mutation SNP C C G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:55207175C>G uc001cxv.3 + 9 1318 c.1186C>G c.(1186-1188)Cag>Gag p.Q396E HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.Q385E O95801 TTC4_HUMAN Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA. 385 binding breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1) 9 AAAGGTGTACCAGATACGATG 0.517 RPE65 6121 broad.mit.edu 37 1 68905261 68905261 + Missense_Mutation SNP C C A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:68905261C>A uc001dei.1 - 6 762 c.708G>T c.(706-708)aaG>aaT p.K236N NM_000329 NP_000320 Q16518 RPE65_HUMAN Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA. 236 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 CGTAAGATGGCTTGAATCGGT 0.403 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:145367767G>A uc021oul.1 + 82 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3455 p.E3455K(10) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423 RPRD2 23248 broad.mit.edu 37 1 150437160 150437160 + Silent SNP T T A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:150437160T>A uc009wlr.3 + 9 1770 c.1569T>A c.(1567-1569)tcT>tcA p.S523S RPRD2_uc010pcc.1_Silent_p.S497S|RPRD2_uc001eup.4_Silent_p.S497S NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 523 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GCATTCTGTCTGCACTTTCCA 0.502 OREG0013786 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC9C2 284525 broad.mit.edu 37 1 173526582 173526582 + Missense_Mutation SNP C C G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:173526582C>G uc001giz.2 - 9 1535 c.1112G>C c.(1111-1113)tGg>tCg p.W371S SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 371 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TACAACTCCCCATCGCCAATT 0.368 RYR2 6262 broad.mit.edu 37 1 237791219 237791219 + Silent SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:237791219C>T uc001hyl.1 + 40 6399 c.6279C>T c.(6277-6279)gaC>gaT p.D2093D NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2093 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCAGTATGACGGCATTGGGG 0.552 KIAA0913 23053 broad.mit.edu 37 10 75556970 75556970 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr10:75556970G>A uc001jvj.3 + 16 3614 c.3359G>A c.(3358-3360)cGt>cAt p.R1120H KIAA0913_uc001jve.3_Missense_Mutation_p.R1125H|KIAA0913_uc009xrl.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvf.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.R555H|KIAA0913_uc010qkr.2_Missense_Mutation_p.R543H|KIAA0913_uc009xrn.2_5'Flank NM_001242488 NP_001229417 A7E2V4 K0913_HUMAN Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA. 1120 zinc ion binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6) 19 Prostate(51;0.0112) CTTGGCAGTCGTGGAGGCTAT 0.577 PTEN 5728 broad.mit.edu 37 10 89720661 89720661 + Missense_Mutation SNP T T C rs142420551 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr10:89720661T>C uc001kfb.3 + 7 1844 c.812T>C c.(811-813)tTt>tCt p.F271S PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 271 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.F271S(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.M270I(1)|p.F271L(1)|p.G165_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GACAAAATGTTTCACTTTTGG 0.274 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) MUC5B 727897 broad.mit.edu 37 11 1273709 1273709 + Silent SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:1273709G>A uc001lta.3 + 31 15059 c.15000G>A c.(14998-15000)tcG>tcA p.S5000S NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 5000 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGCTGTCCTCGCCCTCCCCTG 0.682 OR5P2 120065 broad.mit.edu 37 11 7818411 7818411 + Nonsense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:7818411G>A uc001mfp.1 - 0 79 c.79C>T c.(79-81)Cga>Tga p.R27* NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA. 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L26F(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGATGACTCGAAGGATTGGA 0.428 OR5W2 390148 broad.mit.edu 37 11 55681277 55681277 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:55681277C>T uc010rir.2 - 0 782 c.782G>A c.(781-783)cGg>cAg p.R261Q NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA. 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261W(2)|p.R261Q(2) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGAACTTGGCCGGAAATACAT 0.443 MAP3K11 4296 broad.mit.edu 37 11 65375157 65375157 + Silent SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:65375157C>T uc001oew.3 - 3 1693 c.1200G>A c.(1198-1200)aaG>aaA p.K400K MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.K143K|MAP3K11_uc001oex.1_5'UTR NM_002419 NP_002410 Q16584 M3K11_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA. 400 activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 GGATCTCGCGCTTCCAGCCTT 0.617 HEPHL1 341208 broad.mit.edu 37 11 93808410 93808410 + Silent SNP C C T rs61746203 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:93808410C>T uc001pep.2 + 8 1732 c.1575C>T c.(1573-1575)agC>agT p.S525S AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 525 Plastocyanin-like 3. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGCCTGAGAGCGTAAGCCCAA 0.468 PDZD3 79849 broad.mit.edu 37 11 119059542 119059542 + Missense_Mutation SNP G G T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:119059542G>T uc001pwb.3 + 6 1975 c.1451G>T c.(1450-1452)tGt>tTt p.C484F PDZD3_uc001pvz.3_Missense_Mutation_p.C418F|PDZD3_uc010rzd.2_Missense_Mutation_p.C405F|PDZD3_uc001pvy.3_Missense_Mutation_p.C404F|PDZD3_uc001pwa.3_Missense_Mutation_p.C114F Q86UT5 NHRF4_HUMAN Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA. 484 PDZ 4. cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CGACTCAGTTGTGTGGCCAGT 0.572 CSDA 8531 broad.mit.edu 37 12 10854621 10854621 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr12:10854621G>A uc001qyt.3 - 7 1234 c.991C>T c.(991-993)Cgt>Tgt p.R331C CSDA_uc001qyu.3_Missense_Mutation_p.R262C NM_003651 NP_003642 P16989 DBPA_HUMAN Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA. 331 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 19 Glioma(1;0.155) TTGTAGGGACGCCGGTATCCA 0.567 KRT86 3892 broad.mit.edu 37 12 52699175 52699175 + Nonsense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr12:52699175G>A uc010snq.2 + 5 1020 c.887G>A c.(886-888)tGg>tAg p.W296* KRT86_uc009zmg.3_Nonsense_Mutation_p.W296*|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Nonsense_Mutation_p.W296* NM_002284 NP_002275 O43790 KRT86_HUMAN Homo sapiens keratin 86 (KRT86), mRNA. 296 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCGAGTCCTGGTACCGCAGC 0.542 PTPRB 5787 broad.mit.edu 37 12 70990028 70990028 + Silent SNP A A G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr12:70990028A>G uc001swb.4 - 2 435 c.405T>C c.(403-405)tcT>tcC p.S135S PTPRB_uc010sto.2_Silent_p.S135S|PTPRB_uc010stp.2_Silent_p.S135S|PTPRB_uc001swc.4_Silent_p.S353S|PTPRB_uc001swa.4_Silent_p.S353S|PTPRB_uc001swd.4_Silent_p.S352S|PTPRB_uc009zrr.2_Silent_p.S232S|PTPRB_uc001swe.3_Silent_p.S353S NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 135 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTTTTCCGGAAGAAGGAGTCC 0.408 RIMBP2 23504 broad.mit.edu 37 12 130907060 130907060 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr12:130907060C>T uc001uil.2 - 12 2624 c.2408G>A c.(2407-2409)cGg>cAg p.R803Q NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 803 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGGAAACCTCCGGCCCATGTG 0.567 SACS 26278 broad.mit.edu 37 13 23913301 23913301 + Missense_Mutation SNP T T C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr13:23913301T>C uc001uon.2 - 9 5303 c.4714A>G c.(4714-4716)Att>Gtt p.I1572V SACS_uc001uoo.2_Missense_Mutation_p.I1425V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 1572 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CGACTCATAATGATGGGAATG 0.338 RB1 5925 broad.mit.edu 37 13 48941694 48941694 + Nonsense_Mutation SNP T T G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr13:48941694T>G uc001vcb.3 + 9 1170 c.1004T>G c.(1003-1005)tTa>tGa p.L335* RB1_uc010act.1_Nonsense_Mutation_p.L36* NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 335 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(7) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATGCAAGATTATTTTTGGAT 0.284 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) FARP1 10160 broad.mit.edu 37 13 98865588 98865588 + Missense_Mutation SNP C C T rs113972742 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr13:98865588C>T uc001vnh.3 + 1 331 c.92C>T c.(91-93)cCg>cTg p.P31L FARP1_uc001vni.3_Missense_Mutation_p.P31L|FARP1_uc001vnj.3_Missense_Mutation_p.P31L NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA. 31 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GGACAGAAGCCGCCCCCAACA 0.537 OR11H12 440153 broad.mit.edu 37 14 19378054 19378054 + Missense_Mutation SNP A A C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr14:19378054A>C uc010tkp.2 + 0 461 c.461A>C c.(460-462)cAt>cCt p.H154P NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G153W(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGACTGGGCATCTCTGTGCC 0.478 DYNC1H1 1778 broad.mit.edu 37 14 102467294 102467294 + Nonsense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr14:102467294C>T uc001yks.2 + 18 4242 c.4078C>T c.(4078-4080)Cga>Tga p.R1360* NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 1360 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TCGACAGCTTCGACAAAATTT 0.443 EHD4 30844 broad.mit.edu 37 15 42193062 42193062 + Silent SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr15:42193062G>A uc001zot.3 - 5 1470 c.1407C>T c.(1405-1407)aaC>aaT p.N469N NM_139265 NP_644670 Q9H223 EHD4_HUMAN Homo sapiens EH-domain containing 4 (EHD4), mRNA. 469 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) CCTTCTTGGCGTTGACACCTG 0.592 KIF7 374654 broad.mit.edu 37 15 90188330 90188330 + Missense_Mutation SNP C C T rs149078926 byFrequency TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr15:90188330C>T uc002bof.2 - 9 2182 c.2105G>A c.(2104-2106)cGg>cAg p.R702Q KIF7_uc010upw.1_Missense_Mutation_p.R188Q NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN Homo sapiens kinesin family member 7 (KIF7), mRNA. 702 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CTGGGCCAGCCGCCACTCTGA 0.652 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr15:102515299G>A uc002cdi.3 + 8 1943 c.523G>A c.(523-525)Ggc>Agc p.G175S WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652 NXN 64359 broad.mit.edu 37 17 708351 708351 + Silent SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:708351G>A uc002fsa.3 - 5 1037 c.957C>T c.(955-957)aaC>aaT p.N319N NXN_uc010vqd.2_Intron|NXN_uc010vqe.2_Silent_p.N211N NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA. 319 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GCTGCGCGGCGTTGGAGTCGG 0.692 TP53 7157 broad.mit.edu 37 17 7572986 7572986 + Missense_Mutation SNP G G T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:7572986G>T uc002gim.2 - 10 1317 c.1123C>A c.(1123-1125)Cag>Aag p.Q375K TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.Q243K|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.Q375K NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 375 Basic (repression of DNA-binding).|Interaction with CARM1. 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.0?(8)|p.Q375*(2)|p.?(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) GAGGTAGACTGACCCTTTTTG 0.527 111 """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) TP53 7157 broad.mit.edu 37 17 7577580 7577580 + Missense_Mutation SNP T T C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:7577580T>C uc002gim.2 - 6 895 c.701A>G c.(700-702)tAc>tGc p.Y234C TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 234 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> 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.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(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) CATGTAGTTGTAGTGGATGGT 0.572 111 """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) TBC1D3 729873 broad.mit.edu 37 17 36288289 36288289 + Silent SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:36288289C>T uc010wdk.1 + 4 559 c.558C>T c.(556-558)ccC>ccT p.P186P TBC1D3_uc002hoo.2_Silent_p.P125P|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Silent_p.P45P|TBC1D3_uc010cvf.1_Silent_p.P125P|TBC1D3_uc002hoq.2_Silent_p.P125P|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank NM_032258 NP_115634 Q8IZP1 TBC3A_HUMAN Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA. 125 Rab-GAP TBC. intracellular Rab GTPase activator activity p.P125P(1) breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGAAAAACCCCGGAAGATACC 0.572 GRB7 2886 broad.mit.edu 37 17 37901165 37901165 + Missense_Mutation SNP G G C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:37901165G>C uc002hsr.3 + 8 1214 c.939G>C c.(937-939)aaG>aaC p.K313N GRB7_uc002hss.3_Missense_Mutation_p.K313N|GRB7_uc021twu.1_Missense_Mutation_p.K336N|GRB7_uc010cwc.3_Missense_Mutation_p.K313N|GRB7_uc002hst.3_Missense_Mutation_p.K313N NM_005310 NP_005301 Q14451 GRB7_HUMAN Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA. 313 PH. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ATGGCCACAAGGGGCTTCGGA 0.582 KRT25 147183 broad.mit.edu 37 17 38910206 38910206 + Missense_Mutation SNP A A G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:38910206A>G uc002hve.3 - 2 636 c.575T>C c.(574-576)gTt>gCt p.V192A NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN Homo sapiens keratin 25 (KRT25), mRNA. 192 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTCATCCAAAACTCTTCGTAA 0.403 INTS2 57508 broad.mit.edu 37 17 59946709 59946709 + Silent SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:59946709G>A uc002izn.3 - 21 3163 c.3087C>T c.(3085-3087)gtC>gtT p.V1029V INTS2_uc002izm.3_Silent_p.V1021V NM_020748 NP_065799 Q9H0H0 INT2_HUMAN Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA. 1029 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding p.V1029V(2) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 GAATACCTGCGACCGTCAGAG 0.373 MRPS7 51081 broad.mit.edu 37 17 73258939 73258939 + Silent SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:73258939C>T uc002jnm.4 + 2 563 c.330C>T c.(328-330)ctC>ctT p.L110L GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank NM_015971 NP_057055 Q9Y2R9 RT07_HUMAN Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA. 110 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CCAGATCCCTCATGATTCAGG 0.448 GAMT 2593 broad.mit.edu 37 19 1397419 1397419 + Missense_Mutation SNP G G A rs139890971 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:1397419G>A uc002lsj.3 - 5 727 c.650C>T c.(649-651)cCg>cTg p.P217L AK126693_uc002lsi.1_5'Flank NM_000156 NP_000147 Q14353 GAMT_HUMAN Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA. 217 creatine biosynthetic process|muscle contraction cytosol guanidinoacetate N-methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1) 6 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Creatine(DB00148) GCAGTCGGCCGGTGGGACCAG 0.701 TJP3 27134 broad.mit.edu 37 19 3738562 3738562 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:3738562G>A uc010xhv.2 + 10 1393 c.1393G>A c.(1393-1395)Gtg>Atg p.V465M TJP3_uc010xhs.2_Missense_Mutation_p.V432M|TJP3_uc010xht.2_Missense_Mutation_p.V396M|TJP3_uc010xhu.2_Missense_Mutation_p.V441M|TJP3_uc010xhw.2_Missense_Mutation_p.V451M NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 446 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGAATGACGTGCCATTCCA 0.577 PNPLA6 10908 broad.mit.edu 37 19 7607932 7607932 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:7607932G>A uc010xjq.2 + 14 1837 c.1597G>A c.(1597-1599)Gcc>Acc p.A533T PNPLA6_uc002mgq.2_Missense_Mutation_p.A485T|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Missense_Mutation_p.A485T|PNPLA6_uc002mgs.3_Missense_Mutation_p.A524T NM_001166111 NP_001159583 Q8IY17 PLPL6_HUMAN Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA. 524 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GCTGCACCACGCCAAAGCTGG 0.627 SLC1A6 6511 broad.mit.edu 37 19 15067342 15067342 + Missense_Mutation SNP G G C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:15067342G>C uc002naa.1 - 5 1122 c.1115C>G c.(1114-1116)cCc>cGc p.P372R SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.P308R NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 372 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) CCCAATGAAGGGGAAGGGGTT 0.592 RASAL3 64926 broad.mit.edu 37 19 15574925 15574925 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:15574925C>T uc002nbe.2 - 1 331 c.245G>A c.(244-246)cGc>cAc p.R82H NM_022904 NP_075055 Q86YV0 RASL3_HUMAN Homo sapiens RAS protein activator like 3 (RASAL3), mRNA. 82 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GAGTCGAAGGCGACTGGTCCG 0.672 F2RL3 9002 broad.mit.edu 37 19 17000842 17000842 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:17000842C>T uc002nfa.3 + 1 743 c.568C>T c.(568-570)Cgg>Tgg p.R190W NM_003950 NP_003941 Q96RI0 PAR4_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA. 190 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCTGCGTGGCCGGCGCCTGGC 0.711 FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:38899502_38899504delAAG uc002oin.1 + 7 1049_1051 c.1030_1032delAAG c.(1030-1032)aagdel p.K349del FAM98C_uc002oio.1_In_Frame_Del_p.K267del|FAM98C_uc010xtz.1_3'UTR NM_174905 NP_777565 Q17RN3 FA98C_HUMAN Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA. 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 RASGRP4 115727 broad.mit.edu 37 19 38909096 38909096 + Missense_Mutation SNP C C G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:38909096C>G uc021uub.1 - 6 986 c.772G>C c.(772-774)Gtg>Ctg p.V258L RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.V258L|RASGRP4_uc021uua.1_Missense_Mutation_p.V224L|RASGRP4_uc021uuc.1_Missense_Mutation_p.V258L|RASGRP4_uc021uud.1_Intron|RASGRP4_uc021uue.1_Intron|RASGRP4_uc021uuf.1_Missense_Mutation_p.V244L NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA. 258 Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGGCTCAGCACCATCACCTGC 0.662 SIGLEC10 89790 broad.mit.edu 37 19 51919569 51919569 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:51919569G>A uc002pwo.3 - 3 971 c.749C>T c.(748-750)aCg>aTg p.T250M SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 250 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGTACCTGGCGTGTTGTCACG 0.547 ZSCAN1 284312 broad.mit.edu 37 19 58564824 58564824 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:58564824C>T uc002qrc.1 + 5 879 c.632C>T c.(631-633)cCg>cTg p.P211L NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 211 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCTCTGAAGCCGAGTATCTGG 0.652 TTC7A 57217 broad.mit.edu 37 2 47206005 47206005 + Silent SNP A A G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:47206005A>G uc010fbb.3 + 4 1091 c.723A>G c.(721-723)gaA>gaG p.E241E TTC7A_uc002rvm.3_Silent_p.E207E|TTC7A_uc002rvn.1_Silent_p.E122E|TTC7A_uc002rvo.3_Silent_p.E241E|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.E122E|TTC7A_uc002rvq.3_5'UTR NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 241 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) ACTTCCTGGAAGCTGCCCTCC 0.537 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809567 48809567 + Missense_Mutation SNP C C T rs147440328 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:48809567C>T uc002rwp.2 + 1 1909 c.1795C>T c.(1795-1797)Cgc>Tgc p.R599C STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.R599C NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 599 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex p.R599C(3) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TAAAATGAACCGCCGAGCATG 0.483 EDAR 10913 broad.mit.edu 37 2 109522815 109522815 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:109522815G>A uc010fjn.3 - 10 1616 c.1069C>T c.(1069-1071)Cgg>Tgg p.R357W EDAR_uc010yws.2_Missense_Mutation_p.R357W|EDAR_uc002teq.4_Missense_Mutation_p.R325W NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 325 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 TTTTTCCTCCGGCTTTGAATC 0.512 CNTNAP5 129684 broad.mit.edu 37 2 125504853 125504853 + Missense_Mutation SNP C C A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:125504853C>A uc010flu.3 + 13 2489 c.2125C>A c.(2125-2127)Cct>Act p.P709T CNTNAP5_uc002tno.3_Missense_Mutation_p.P708T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 708 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGAAAGGCACCCTTACTGGGG 0.537 POTEE 445582 broad.mit.edu 37 2 131984443 131984443 + Silent SNP A A G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:131984443A>G uc002tsn.2 + 3 910 c.858A>G c.(856-858)caA>caG p.Q286Q PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 286 ATP binding AAAAACAGCAAGTCGTGAAAT 0.333 LOC401010 401010 broad.mit.edu 37 2 132201663 132201663 + Silent SNP T T C rs1317139 by1000genomes TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:132201663T>C uc002tst.2 - 0 805 c.339A>G c.(337-339)gcA>gcG p.A113A Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. CCATCGTCTCTGCCACACAGG 0.607 LOC401010 401010 broad.mit.edu 37 2 132201718 132201718 + Missense_Mutation SNP T T C rs2001215 by1000genomes TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:132201718T>C uc002tst.2 - 0 750 c.284A>G c.(283-285)cAt>cGt p.H95R Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. GATGTCCACATGGAGCTTCCC 0.597 ZNF804A 91752 broad.mit.edu 37 2 185731110 185731110 + Missense_Mutation SNP G G C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:185731110G>C uc002uph.3 + 1 720 c.126G>C c.(124-126)aaG>aaC p.K42N NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 42 intracellular zinc ion binding p.E41Q(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ATGCTGAGAAGGAAAATACCA 0.363 MPP4 58538 broad.mit.edu 37 2 202552079 202552079 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:202552079G>A uc002uyk.4 - 4 503 c.295C>T c.(295-297)Cgt>Tgt p.R99C MPP4_uc010ftj.3_Missense_Mutation_p.R99C|MPP4_uc010zhq.2_Missense_Mutation_p.R99C|MPP4_uc010zht.2_Intron|MPP4_uc010zhr.2_Missense_Mutation_p.R99C|MPP4_uc010zhs.2_Missense_Mutation_p.R99C|MPP4_uc002uyj.4_Missense_Mutation_p.R99C|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.R99C|MPP4_uc002uym.1_Missense_Mutation_p.R112C|MPP4_uc002uyn.3_Missense_Mutation_p.R99C NM_033066 NP_149055 Q96JB8 MPP4_HUMAN Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA. 99 L27 2. cytoplasm protein binding p.R99C(1) kidney(1)|lung(11) 12 GGGGTTTCACGTAATAACTCC 0.408 ZNF831 128611 broad.mit.edu 37 20 57768855 57768855 + Missense_Mutation SNP A A C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr20:57768855A>C uc002yan.3 + 0 2781 c.2781A>C c.(2779-2781)agA>agC p.R927S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 927 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGGCTCCTAGAGTGCTCTCTG 0.632 CDH4 1002 broad.mit.edu 37 20 60503346 60503346 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr20:60503346G>A uc002ybn.2 + 11 1958 c.1870G>A c.(1870-1872)Gag>Aag p.E624K CDH4_uc002ybr.2_Missense_Mutation_p.E587K|CDH4_uc002ybp.2_Missense_Mutation_p.E550K NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 624 Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding p.C623C(1) NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCAGATCTGCGAGAAGCCCAA 0.642 HRH3 11255 broad.mit.edu 37 20 60793588 60793588 + Missense_Mutation SNP C C T rs142903103 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr20:60793588C>T uc002yci.3 - 1 673 c.376G>A c.(376-378)Gtg>Atg p.V126M HRH3_uc002ycf.2_Missense_Mutation_p.V126M|HRH3_uc002ych.3_Missense_Mutation_p.V126M|HRH3_uc002ycg.3_Missense_Mutation_p.V126M NM_007232 NP_009163 Q9Y5N1 HRH3_HUMAN Homo sapiens histamine receptor H3 (HRH3), mRNA. 126 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) CTGATGAGCACGATGTTGAAG 0.647 KRTAP13-1 140258 broad.mit.edu 37 21 31768677 31768677 + Silent SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr21:31768677C>T uc002yoa.3 + 0 286 c.273C>T c.(271-273)ccC>ccT p.P91P NM_181599 NP_853630 Q8IUC0 KR131_HUMAN Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA. 91 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTGCAGTCCCTGCCAGACAA 0.612 FAM3B 54097 broad.mit.edu 37 21 42720528 42720528 + Silent SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr21:42720528C>T uc002yzb.1 + 6 641 c.495C>T c.(493-495)aaC>aaT p.N165N FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Silent_p.N117N NM_058186 NP_478066 P58499 FAM3B_HUMAN Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA. 165 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GACTGAATAACGATGCCAAGA 0.463 SHISA5 51246 broad.mit.edu 37 3 48520627 48520627 + Silent SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr3:48520627C>T uc003ctp.1 - 2 407 c.273G>A c.(271-273)tcG>tcA p.S91S SHISA5_uc011bbl.2_5'UTR|SHISA5_uc003cto.1_Silent_p.S60S|SHISA5_uc003cts.1_Silent_p.S60S NM_016479 NP_057563 Q8N114 SHSA5_HUMAN Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA. 91 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding large_intestine(1)|lung(1) 2 ACCTCAGCGCCGAGCCCAGCT 0.592 CACNA2D2 9254 broad.mit.edu 37 3 50513588 50513588 + Silent SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr3:50513588G>A uc003daq.3 - 1 287 c.249C>T c.(247-249)ggC>ggT p.G83G CACNA2D2_uc003dap.3_Silent_p.G83G NM_001174051 NP_001167522 Q9NY47 CA2D2_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA. 83 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.G83D(1) breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TCCGCATCACGCCGTCGACCT 0.632 ZNF717 100131827 broad.mit.edu 37 3 75790798 75790798 + Silent SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr3:75790798G>A uc011bgi.2 - 2 470 c.147C>T c.(145-147)gaC>gaT p.D49D ZNF717_uc003dpw.3_Non-coding_Transcript NM_001128223 NP_001121695 C9JSV9 C9JSV9_HUMAN Homo sapiens zinc finger protein 717 (ZNF717), mRNA. 49 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCAGCATCACGTCCCTGTACA 0.502 PIK3CA 5290 broad.mit.edu 37 3 178916726 178916726 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr3:178916726G>A uc003fjk.3 + 1 270 c.113G>A c.(112-114)cGt>cAt p.R38H NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 38 PI3K-ABD. R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). 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.R38H(18)|p.R38L(3)|p.R38C(2)|p.R38S(1)|p.R38G(1) 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) GAATGCCTCCGTGAGGCTACA 0.393 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:56336954delA uc003haz.1 - 8 1294 c.368delT c.(367-369)ttafs p.L123fs CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs NM_004898 NP_004889 O15516 CLOCK_HUMAN Homo sapiens clock homolog (mouse) (CLOCK), mRNA. 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(4) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 PF4V1 5197 broad.mit.edu 37 4 74719597 74719597 + Silent SNP C C T rs147144357 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:74719597C>T uc003hhg.1 + 1 265 c.198C>T c.(196-198)gcC>gcT p.A66A NM_002620 NP_002611 P10720 PF4V_HUMAN Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA. 66 immune response extracellular region chemokine activity|heparin binding p.A66G(2) endometrium(1)|liver(2) 3 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TGATCAAGGCCGGACCCCACT 0.612 TACR3 6870 broad.mit.edu 37 4 104579420 104579420 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:104579420C>T uc003hxe.1 - 1 830 c.689G>A c.(688-690)cGt>cAt p.R230H NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 230 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GCAGAGAGTACGGCCTGGCAT 0.393 ZNF827 152485 broad.mit.edu 37 4 146697085 146697085 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:146697085C>T uc003ikn.3 - 9 2597 c.2549G>A c.(2548-2550)tGc>tAc p.C850Y ZNF827_uc003ikm.3_Missense_Mutation_p.C850Y|ZNF827_uc010iox.3_Missense_Mutation_p.C500Y|ZNF827_uc003ikl.3_5'UTR NM_178835 NP_849157 Q17R98 ZN827_HUMAN Homo sapiens zinc finger protein 827 (ZNF827), mRNA. 850 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AGCATAGGGGCACAAGTGGCA 0.498 ODZ3 55714 broad.mit.edu 37 4 183651467 183651467 + Silent SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:183651467C>T uc003ivd.1 + 13 2775 c.2700C>T c.(2698-2700)gaC>gaT p.D900D ODZ3_uc003ive.1_Silent_p.D306D NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 900 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCCGCCAGGACGGAATGTGAG 0.398 FCHO2 115548 broad.mit.edu 37 5 72383422 72383422 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr5:72383422G>A uc003kcl.3 + 24 2368 c.2252G>A c.(2251-2253)gGg>gAg p.G751E FCHO2_uc011csl.2_Missense_Mutation_p.G718E|FCHO2_uc010izb.3_Missense_Mutation_p.G179E|FCHO2_uc011csn.2_Missense_Mutation_p.G179E NM_138782 NP_620137 Q0JRZ9 FCHO2_HUMAN Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA. 751 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) GTAGGTTCTGGGTCCCTCCGA 0.398 GABRA6 2559 broad.mit.edu 37 5 161119060 161119060 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr5:161119060G>A uc003lyu.2 + 7 1278 c.940G>A c.(940-942)Gtc>Atc p.V314I GABRA6_uc003lyv.2_Missense_Mutation_p.V85I NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 314 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.V314I(2) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTTGCATTCGTCTTCTCTGC 0.478 TCGA Ovarian(5;0.080) LRRC16A 55604 broad.mit.edu 37 6 25450163 25450163 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr6:25450163C>T uc011djw.2 + 5 777 c.409C>T c.(409-411)Cgc>Tgc p.R137C LRRC16A_uc010jpy.3_Missense_Mutation_p.R137C|LRRC16A_uc003nez.1_5'Flank NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA. 137 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GCCATCTGAGCGCCTGGCTAG 0.468 ABCF1 23 broad.mit.edu 37 6 30548286 30548286 + Missense_Mutation SNP A A G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr6:30548286A>G uc003nql.3 + 7 763 c.668A>G c.(667-669)aAg>aGg p.K223R ABCF1_uc003nqk.2_Missense_Mutation_p.K224R|ABCF1_uc003nqm.3_Missense_Mutation_p.K223R NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA. 223 Glu-rich. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 AAGGCCAAGAAGGCAGAGCAG 0.453 CYP21A2 1589 broad.mit.edu 37 6 31973481 31973483 + In_Frame_Del DEL CTG CTG - TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr6:31973481_31973483delCTG uc021yvd.1 + 0 123_125 c.16_18delCTG c.(16-18)ctgdel p.L10del CYP21A1P_uc021yve.1_5'UTR P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 9 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 gctcctgggcctgctgctgctgc 0.660 ZDHHC4 55146 broad.mit.edu 37 7 6628405 6628405 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr7:6628405G>A uc003sqi.3 + 8 1257 c.899G>A c.(898-900)cGt>cAt p.R300H ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank NM_001134388 NP_060576 Q9NPG8 ZDHC4_HUMAN Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA. 300 integral to membrane acyltransferase activity|zinc ion binding p.R300H(4)|p.Q299*(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) TGGTGCCAGCGTTGTCCCCTT 0.577 PCLO 27445 broad.mit.edu 37 7 82583736 82583736 + Missense_Mutation SNP G G T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr7:82583736G>T uc003uhx.2 - 4 6822 c.6533C>A c.(6532-6534)cCc>cAc p.P2178H PCLO_uc003uhv.2_Missense_Mutation_p.P2178H|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2109 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGTGTCAGAGGGTGGGACAGA 0.428 MUC17 140453 broad.mit.edu 37 7 100684314 100684314 + Missense_Mutation SNP C C G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr7:100684314C>G uc003uxp.1 + 2 9670 c.9617C>G c.(9616-9618)aCt>aGt p.T3206S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3206 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCATCTACAACTGCTGAAGGT 0.502 EZH2 2146 broad.mit.edu 37 7 148529726 148529726 + Missense_Mutation SNP C C G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr7:148529726C>G uc003wfd.2 - 4 556 c.363_splice c.e4+1 p.M121_splice EZH2_uc022aov.1_Intron|EZH2_uc011kug.2_Splice_Site_p.M112_splice|EZH2_uc003wfb.2_Splice_Site_p.M121_splice|EZH2_uc003wfc.2_Intron|EZH2_uc011kuh.2_Splice_Site_p.M112_splice|EZH2_uc011kui.2_Splice_Site_p.M121_splice|EZH2_uc011kuj.2_Splice_Site NM_001203247 NP_001190176 Q15910 EZH2_HUMAN Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA. 121 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ATTTACATACCATAAAATTCT 0.313 Mis DLBCL TNFRSF10C 8794 broad.mit.edu 37 8 22972207 22972207 + Silent SNP G G A rs74480765 byFrequency TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr8:22972207G>A uc003xcy.3 + 2 512 c.204G>A c.(202-204)ccG>ccA p.P68P TNFRSF10C_uc011kzr.2_Non-coding_Transcript NM_003841 NP_003832 O14798 TR10C_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA. 68 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CCTGTAACCCGTGCACAGAGG 0.468 SLCO5A1 81796 broad.mit.edu 37 8 70617355 70617355 + Silent SNP A A G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr8:70617355A>G uc003xyl.3 - 5 2240 c.1533T>C c.(1531-1533)agT>agC p.S511S SLCO5A1_uc010lzb.3_Silent_p.S456S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.S511S|SLCO5A1_uc010lzc.2_Silent_p.S456S NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 511 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AAGACACACCACTGCAGATCA 0.408 RIMS2 9699 broad.mit.edu 37 8 104897848 104897848 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr8:104897848C>T uc003yls.3 + 1 596 c.355C>T c.(355-357)Cgt>Tgt p.R119C RIMS2_uc003ylp.3_Missense_Mutation_p.R341C|RIMS2_uc003ylw.2_Missense_Mutation_p.R149C|RIMS2_uc003ylq.3_Missense_Mutation_p.R149C|RIMS2_uc003ylr.3_Missense_Mutation_p.R149C NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 372 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAATTTGGCCCGTTATCCAGT 0.473 HNSCC(12;0.0054) CNTLN 54875 broad.mit.edu 37 9 17330744 17330744 + Missense_Mutation SNP A A G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:17330744A>G uc003zmz.2 + 8 1482 c.1456A>G c.(1456-1458)Ata>Gta p.I486V CNTLN_uc003zmy.3_Missense_Mutation_p.I486V|CNTLN_uc010mio.3_Missense_Mutation_p.I165V NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA. 486 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) GTCAGAAAACATATCTGCCAA 0.368 FBXO10 26267 broad.mit.edu 37 9 37515999 37515999 + Silent SNP G G T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:37515999G>T uc004aac.3 - 9 2726 c.2646C>A c.(2644-2646)atC>atA p.I882I FBXO10_uc004aab.3_Silent_p.I866I|FBXO10_uc004aad.3_Silent_p.I416I NM_012166 NP_036298 Q9UK96 FBX10_HUMAN Homo sapiens F-box protein 10 (FBXO10), mRNA. 866 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CCTGGAAGATGATGTTTTCCT 0.522 TMC1 117531 broad.mit.edu 37 9 75435855 75435855 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:75435855G>A uc004aiz.1 + 19 2401 c.1861G>A c.(1861-1863)Gtt>Att p.V621I TMC1_uc010moz.1_Missense_Mutation_p.V579I|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.V475I|TMC1_uc010mpa.1_Missense_Mutation_p.V475I NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. 621 sensory perception of sound integral to membrane p.N620S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GTGCTGCAATGTTCCTGAGGC 0.502 ASTN2 23245 broad.mit.edu 37 9 119770488 119770488 + Silent SNP A A G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:119770488A>G uc004bjt.2 - 5 1422 c.1321T>C c.(1321-1323)Tta>Cta p.L441L ASTN2_uc022bml.1_Silent_p.L141L|ASTN2_uc022bmm.1_Silent_p.L141L NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 492 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCCGGGTTTAACCAGTCGGAG 0.512 GPSM1 26086 broad.mit.edu 37 9 139250804 139250804 + Silent SNP G G A rs79557901 byFrequency TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:139250804G>A uc004chd.2 + 12 1843 c.1623G>A c.(1621-1623)tcG>tcA p.S541S GPSM1_uc011mdu.1_Silent_p.S32S|GPSM1_uc022bpn.1_Silent_p.S32S|GPSM1_uc004che.2_Silent_p.S32S NM_001145638 NP_001139110 Q86YR5 GPSM1_HUMAN Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA. 541 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) CCCAGCCCTCGATGACGGCCT 0.716 MSL3 10943 broad.mit.edu 37 X 11790368 11790371 + Frame_Shift_Del DEL TTGT TTGT - TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:11790368_11790371delTTGT uc004cuw.3 + 10 1480_1483 c.1375_1378delTTGT c.(1375-1380)ttgtttfs p.L459fs MSL3_uc011mig.2_Frame_Shift_Del_p.L310fs|MSL3_uc011mih.2_Frame_Shift_Del_p.L447fs|MSL3_uc004cuy.3_Frame_Shift_Del_p.L293fs NM_078629 NP_006791 Q8N5Y2 MS3L1_HUMAN Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA. 459 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 TTTGCTGCGATTGTTTGGTAAGAA 0.451 KCND1 3750 broad.mit.edu 37 X 48819889 48819889 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:48819889C>T uc004dlx.1 - 5 3470 c.1897G>A c.(1897-1899)Ggt>Agt p.G633S KCND1_uc004dlw.1_Missense_Mutation_p.G256S NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA. 633 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 CAAGGGGTACCCAGGCTGGAG 0.612 VSIG4 11326 broad.mit.edu 37 X 65242302 65242302 + Missense_Mutation SNP T T C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:65242302T>C uc004dwh.2 - 7 1130 c.1003A>G c.(1003-1005)Agg>Ggg p.R335G VSIG4_uc004dwi.2_Missense_Mutation_p.R241G|VSIG4_uc004dwj.3_3'UTR|VSIG4_uc011moy.2_3'UTR NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA. 335 complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATGGCCACCCTCATGGTTTCT 0.567 USP26 83844 broad.mit.edu 37 X 132161219 132161219 + Missense_Mutation SNP G G A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:132161219G>A uc011mvf.2 - 0 1082 c.1030C>T c.(1030-1032)Cgg>Tgg p.R344W USP26_uc010nrm.1_Missense_Mutation_p.R344W NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 344 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) AAAAGTAGCCGTGCCAAGCAC 0.378 AFF2 2334 broad.mit.edu 37 X 147924922 147924922 + Silent SNP C C A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:147924922C>A uc004fcp.3 + 6 1706 c.1227C>A c.(1225-1227)acC>acA p.T409T AFF2_uc004fco.3_Silent_p.T376T|AFF2_uc004fcq.3_Silent_p.T405T|AFF2_uc004fcr.3_Silent_p.T376T|AFF2_uc011mxb.2_Silent_p.T380T|AFF2_uc004fcs.3_Silent_p.T376T|AFF2_uc011mxc.2_Silent_p.T50T NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 409 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ATGACCCAACCACCAGAGCTT 0.378 FLNA 2316 broad.mit.edu 37 X 153588445 153588445 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:153588445C>T uc004fkk.2 - 21 3967 c.3718G>A c.(3718-3720)Gtg>Atg p.V1240M FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 1240 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGTTGGGCACGGGCTGGCCG 0.627