Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PKD1L2 114780 broad.mit.edu 37 16 81157274 81157274 + Silent SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr16:81157274G>A uc002fgh.1 - 38 6460 c.6460C>T c.(6460-6462)Cta>Tta p.L2154L PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 2156 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTGGTCTCTAGCGTCAGCGTG 0.597000 4 94 0 0 1 0 0 SENP7 57337 broad.mit.edu 37 3 101090962 101090962 + Missense_Mutation SNP T T G TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr3:101090962T>G uc003dut.3 - 6 797 c.686A>C c.(685-687)cAa>cCa p.Q229P SENP7_uc003duu.3_Missense_Mutation_p.Q164P|SENP7_uc003duv.3_Missense_Mutation_p.Q196P|SENP7_uc003duw.3_Missense_Mutation_p.Q163P|SENP7_uc003dux.3_Missense_Mutation_p.Q65P NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA. 229 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTTACTTCGTTGTGAGCCCCT 0.348000 3 88 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18860687 18860687 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr16:18860687T>C uc002dfm.3 - 35 5838 c.5475A>G c.(5473-5475)caA>caG p.Q1825Q SMG1_uc010bwb.3_Silent_p.Q1685Q|SMG1_uc010bwa.3_Silent_p.Q556Q|SMG1_uc021ted.1_Silent_p.Q123Q NM_015092 NP_055907 Q96Q15 SMG1_HUMAN Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA. 1825 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GTGAGAAAAGTTGCGGAATAA 0.388000 7 70 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21467494 21467494 + Missense_Mutation SNP G G C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr12:21467494G>C uc001res.3 - 4 1045 c.324C>G c.(322-324)ttC>ttG p.F108L SLCO1A2_uc010siq.2_Intron|SLCO1A2_uc010sio.2_Intron|SLCO1A2_uc001rer.3_Missense_Mutation_p.F108L|SLCO1A2_uc010sip.2_Intron|SLCO1A2_uc001ret.3_Missense_Mutation_p.F106L|SLCO1A2_uc001reu.2_Missense_Mutation_p.F88L NM_134431 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 1, mRNA. 108 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GGTTCATGAGGAAATGAGGTA 0.398000 3 85 0 0 1 0 0 IFIT1B 439996 broad.mit.edu 37 10 91144286 91144286 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr10:91144286T>C uc001kgh.3 + 1 1296 c.1216T>C c.(1216-1218)Ttg>Ctg p.L406L LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron NM_001010987 NP_001010987 Q5T764 IFT1B_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA. 406 binding endometrium(2)|large_intestine(3)|lung(8) 13 TTTAAAAGGTTTGAAAATAGA 0.363000 36 66 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215792548 215792548 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr1:215792548T>C uc001hks.3 + 16 2095 c.1801T>C c.(1801-1803)Ttg>Ctg p.L601L KCTD3_uc001hkt.3_Silent_p.L599L|KCTD3_uc010pub.2_Silent_p.L499L|KCTD3_uc009xdn.3_Silent_p.L325L NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA. 601 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TCAATGTGATTTGAGCACATC 0.393000 18 88 0 0 1 0 0 PTENP1 11191 broad.mit.edu 37 9 33676262 33676262 + Nonsense_Mutation SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr9:33676262G>A uc003zth.4 - 0 1157 c.286C>T c.(286-288)Cga>Tga p.R96* Homo sapiens phosphatase and tensin homolog pseudogene 1 (PTENP1), non-coding RNA. ATACCAGTTCGTCCCTTTCCA 0.393000 24 99 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 30 45 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104782687 104782687 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr7:104782687T>C uc003vcv.3 - 10 1399 c.1311A>G c.(1309-1311)acA>acG p.T437T SRPK2_uc003vct.3_Silent_p.T426T|SRPK2_uc003vcu.3_Silent_p.T426T|SRPK2_uc003vcw.1_Silent_p.T426T NM_182692 NP_872634 P78362 SRPK2_HUMAN Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 1, mRNA. 426 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 AGCTGCTATATGTGTAATCAC 0.428000 8 139 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834453 178834453 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr1:178834453T>C uc001gma.3 - 2 935 c.459A>G c.(457-459)caA>caG p.Q153Q RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Silent_p.Q153Q|ANGPTL1_uc010pnc.1_Silent_p.Q75Q NM_004673 NP_004664 O95841 ANGL1_HUMAN Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA. 153 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 TGTTTTCCAGTTGGGAAAGTT 0.388000 11 26 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148044403 148044403 + Missense_Mutation SNP C C T TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chrX:148044403C>T uc004fcp.3 + 12 3328 c.2849C>T c.(2848-2850)aCa>aTa p.T950I AFF2_uc004fcq.3_Missense_Mutation_p.T940I|AFF2_uc004fcr.3_Missense_Mutation_p.T911I|AFF2_uc011mxb.2_Missense_Mutation_p.T915I|AFF2_uc004fcs.3_Missense_Mutation_p.T917I|AFF2_uc011mxc.2_Missense_Mutation_p.T591I NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 950 RNA splicing|brain development|mRNA processing|regulation of 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) GGACAAATCACATCTACCAAA 0.433000 6 52 0 0 1 0 0 STC2 8614 broad.mit.edu 37 5 172755126 172755126 + Missense_Mutation SNP C C G TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr5:172755126C>G uc003mco.1 - 0 1381 c.71G>C c.(70-72)gGg>gCg p.G24A STC2_uc003mcn.1_5'Flank NM_003714 NP_003705 O76061 STC2_HUMAN Homo sapiens stanniocalcin 2 (STC2), mRNA. 24 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGCGTCGGTCCCCCGCGCCGG 0.637000 22 101 0 0 1 0 0 GALNT1 2589 broad.mit.edu 37 18 33271056 33271056 + Silent SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr18:33271056G>A uc010dmu.3 + 7 1112 c.1059G>A c.(1057-1059)acG>acA p.T353T GALNT1_uc002kyz.4_Silent_p.T293T|GALNT1_uc002kzb.3_Silent_p.T353T NM_020474 NP_065207 Q10472 GALT1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA. 353 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.T353T(2) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 CACCTTACACGTTTCCAGGAG 0.403000 9 158 0 0 1 0 0 WDR45L 56270 broad.mit.edu 37 17 80579584 80579584 + Silent SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr17:80579584G>A uc002kfq.3 - 5 714 c.519C>T c.(517-519)agC>agT p.S173S WDR45L_uc002kfr.3_Non-coding_Transcript NM_019613 NP_062559 Q5MNZ6 WIPI3_HUMAN Homo sapiens WDR45-like (WDR45L), mRNA. 173 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 12 Breast(20;0.00106)|all_neural(118;0.0952) all_cancers(8;0.101)|all_epithelial(8;0.198) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835) GCTTCTCCGTGCTGGCCAGGT 0.582000 7 35 0 0 1 0 0 KIAA0141 9812 broad.mit.edu 37 5 141307808 141307808 + Silent SNP C C A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr5:141307808C>A uc003lls.3 + 3 479 c.357C>A c.(355-357)tcC>tcA p.S119S KIAA0141_uc003llt.3_Silent_p.S119S NM_001142603 NP_055588 Q14154 DELE_HUMAN Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 119 apoptosis|regulation of caspase activity mitochondrion protein binding p.C118*(1) endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACACTGCTCCTGGCACAGTC 0.627000 6 58 0 0 1 0 0 PARPBP 55010 broad.mit.edu 37 12 102559570 102559570 + Missense_Mutation SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr12:102559570G>A uc010swa.2 + 6 1073 c.961G>A c.(961-963)Gat>Aat p.D321N PARPBP_uc001tjf.3_Missense_Mutation_p.D244N|PARPBP_uc001tjg.3_Missense_Mutation_p.D163N|PARPBP_uc001tjh.3_Missense_Mutation_p.D163N|PARPBP_uc010swb.2_Missense_Mutation_p.D130N|PARPBP_uc009zuc.3_Intron|PARPBP_uc001tjj.3_5'UTR|PARPBP_uc001tjk.3_Missense_Mutation_p.D244N|PARPBP_uc009zud.3_Missense_Mutation_p.D244N NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN Homo sapiens PARP1 binding protein (PARPBP), mRNA. 244 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 ACCACCATCAGATCCTTTAAG 0.363000 7 126 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074483 9074483 + Silent SNP A A G TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr19:9074483A>G uc002mkp.3 - 2 13167 c.12963T>C c.(12961-12963)gcT>gcC p.A4321A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4323 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGTCTCTGTAGCAGAGCTGG 0.502000 14 20 0 0 1 0 0