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 PTCH2 8643 broad.mit.edu 37 1 45295299 45295299 + Missense_Mutation SNP C C T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr1:45295299C>T ENST00000447098.2 - 8 1081 c.1070G>A c.(1069-1071)cGg>cAg p.R357Q PTCH2_ENST00000372192.3_Missense_Mutation_p.R357Q NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 357 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CACAAAGCGCCGCTGCCAGGC 0.617 Basal Cell Nevus syndrome 13 155 --- --- --- --- LRRIQ3 127255 broad.mit.edu 37 1 74575077 74575077 + Splice_Site SNP C C A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr1:74575077C>A ENST00000354431.4 - 5 1059 c.e5+1 LRRIQ3_ENST00000468759.1_Splice_Site|LRRIQ3_ENST00000395089.1_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 ATTATACTTACATGTTTCCAA 0.269 4 6 --- --- --- --- PTGS2 5743 broad.mit.edu 37 1 186647446 186647446 + Missense_Mutation SNP G G A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr1:186647446G>A ENST00000367468.5 - 4 540 c.404C>T c.(403-405)aCt>aTt p.T135I PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 135 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) AAGGGCTCTAGTATAATAGGA 0.438 8 46 --- --- --- --- HHAT 55733 broad.mit.edu 37 1 210522367 210522367 + Silent SNP C C T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr1:210522367C>T ENST00000367010.1 + 2 275 c.48C>T c.(46-48)ggC>ggT p.G16G HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 16 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CCTCACTAGGCTTCCACTTCT 0.478 18 30 --- --- --- --- ADCK3 56997 broad.mit.edu 37 1 227170646 227170646 + Missense_Mutation SNP T T G TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr1:227170646T>G ENST00000366779.1 + 13 3762 c.991T>G c.(991-993)Ttc>Gtc p.F331V ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V|ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V|ADCK3_ENST00000478406.1_3'UTR Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 331 Protein kinase. cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 GTTGGAATACTTCGAGGAGCG 0.647 10 12 --- --- --- --- PPM1G 5496 broad.mit.edu 37 2 27604624 27604624 + Missense_Mutation SNP A A G TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr2:27604624A>G ENST00000344034.4 - 10 1747 c.1483T>C c.(1483-1485)Tgt>Cgt p.C495R PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 495 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) ATGTTGTCACACCCTGTACCA 0.547 4 89 --- --- --- --- SMEK2 57223 broad.mit.edu 37 2 55844316 55844316 + Missense_Mutation SNP T T C TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr2:55844316T>C ENST00000272313.5 - 1 433 c.106A>G c.(106-108)Aag>Gag p.K36E SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000345102.5_Missense_Mutation_p.K36E|SMEK2_ENST00000477749.1_5'UTR NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 36 WH1. microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GACATCCCCTTGAGCTCCTCC 0.592 38 52 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166908358 166908358 + Nonsense_Mutation SNP G G A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr2:166908358G>A ENST00000423058.2 - 6 852 c.835C>T c.(835-837)Caa>Taa p.Q279* AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279* NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 279 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGAGGCCATTGTATACATTTA 0.393 32 27 --- --- --- --- SP3 6670 broad.mit.edu 37 2 174777796 174777796 + Splice_Site SNP A A G TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr2:174777796A>G ENST00000310015.6 - 6 2560 c.e6+1 SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) AGTATTAGTAACCTGTATGTG 0.353 13 26 --- --- --- --- ECE2 9718 broad.mit.edu 37 3 183994314 183994314 + Missense_Mutation SNP G G A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr3:183994314G>A ENST00000404464.3 + 2 223 c.85G>A c.(85-87)Gag>Aag p.E29K ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K|EIF2B5_ENST00000444495.1_Intron NM_001100120.1|NM_001100121.1 NP_001093590.1|NP_001093591.1 O60344 ECE2_HUMAN endothelin converting enzyme 2 0 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGACGCACCCGAGACCCCCGT 0.667 16 33 --- --- --- --- ECE2 9718 broad.mit.edu 37 3 183995186 183995186 + Missense_Mutation SNP G G A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr3:183995186G>A ENST00000402825.3 + 4 764 c.764G>A c.(763-765)gGg>gAg p.G255E ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 255 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGCCCGATGGGCGTTCTCGC 0.602 27 54 --- --- --- --- PCDH18 54510 broad.mit.edu 37 4 138452262 138452262 + Silent SNP T T C TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr4:138452262T>C ENST00000344876.4 - 1 1367 c.981A>G c.(979-981)caA>caG p.Q327Q PCDH18_ENST00000507846.1_Silent_p.Q107Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.Q327Q NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 327 Cadherin 3. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GACCCAAATCTTGAGCCTGAA 0.353 14 21 --- --- --- --- VCAN 1462 broad.mit.edu 37 5 82815919 82815919 + Silent SNP G G A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr5:82815919G>A ENST00000265077.3 + 7 2359 c.1794G>A c.(1792-1794)gaG>gaA p.E598E VCAN_ENST00000512590.2_Silent_p.E550E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 598 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAGACTTGGAGTCAGTCTCAG 0.418 62 62 --- --- --- --- CCNJL 79616 broad.mit.edu 37 5 159680553 159680553 + Silent SNP G G A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr5:159680553G>A ENST00000393977.3 - 7 1425 c.1140C>T c.(1138-1140)acC>acT p.T380T CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.T332T NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 380 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTTGGTACGGGGTGTGGAGGG 0.632 33 54 --- --- --- --- TFAP2B 7021 broad.mit.edu 37 6 50810837 50810837 + Missense_Mutation SNP C C T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr6:50810837C>T ENST00000263046.4 + 8 1308 c.1142C>T c.(1141-1143)gCg>gTg p.A381V TFAP2B_ENST00000393655.3_Missense_Mutation_p.A372V Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 372 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) GATCTACTGGCGCAGGACCGG 0.567 7 235 --- --- --- --- PKHD1 5314 broad.mit.edu 37 6 51484229 51484229 + Missense_Mutation SNP T T C TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr6:51484229T>C ENST00000371117.3 - 67 12150 c.11875A>G c.(11875-11877)Att>Gtt p.I3959V RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3959 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TCTCGGACAATGTGGCGGCTA 0.552 77 71 --- --- --- --- TAS2R4 50832 broad.mit.edu 37 7 141478836 141478836 + Missense_Mutation SNP T T G TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr7:141478836T>G ENST00000247881.2 + 1 595 c.548T>G c.(547-549)tTg>tGg p.L183W SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 183 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) TCTTTGGTCTTGAGCTCATCT 0.408 86 137 --- --- --- --- TACC1 6867 broad.mit.edu 37 8 38699927 38699927 + Missense_Mutation SNP T T G TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr8:38699927T>G ENST00000379931.3 + 11 2498 c.2119T>G c.(2119-2121)Tat>Gat p.Y707D TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000317827.4_Missense_Mutation_p.Y695D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 695 Interaction with CH-TOG. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) CTTCAGGAGATATGAGAACCT 0.473 37 50 --- --- --- --- SH3GL2 6456 broad.mit.edu 37 9 17791307 17791307 + Nonsense_Mutation SNP C C T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr9:17791307C>T ENST00000380607.4 + 7 823 c.703C>T c.(703-705)Caa>Taa p.Q235* SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188* NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 235 BAR. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GATCCTGCAGCAAGTCACGGT 0.423 36 6 --- --- --- --- ALDH1A1 216 broad.mit.edu 37 9 75526938 75526938 + Missense_Mutation SNP C C A rs142280224 TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr9:75526938C>A ENST00000297785.3 - 10 1190 c.1136G>T c.(1135-1137)gGc>gTc p.G379V NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 379 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GACAAAGTAGCCTTTATTCCC 0.443 45 78 --- --- --- --- CDH23 64072 broad.mit.edu 37 10 73468898 73468898 + Silent SNP C C T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr10:73468898C>T ENST00000224721.6 + 26 3170 c.3165C>T c.(3163-3165)gcC>gcT p.A1055A NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1050 Cadherin 10. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ACCGCGATGCCGTTGTGAGAA 0.627 6 60 --- --- --- --- CTSD 1509 broad.mit.edu 37 11 1776173 1776173 + Missense_Mutation SNP C C T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr11:1776173C>T ENST00000236671.2 - 6 922 c.790G>A c.(790-792)Gtc>Atc p.V264I RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 264 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTGCGGGTGACATTCAGGTAG 0.622 36 51 --- --- --- --- KCNJ5 3762 broad.mit.edu 37 11 128781513 128781513 + Silent SNP G G T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr11:128781513G>T ENST00000529694.1 + 2 721 c.345G>T c.(343-345)cgG>cgT p.R115R KCNJ5_ENST00000533599.1_Silent_p.R115R|KCNJ5_ENST00000338350.4_Silent_p.R115R NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 115 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CTTATATCCGGGGTGACCTGG 0.507 58 61 --- --- --- --- ZBTB44 29068 broad.mit.edu 37 11 130130970 130130970 + Missense_Mutation SNP C C G TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr11:130130970C>G ENST00000525842.1 - 2 1166 c.799G>C c.(799-801)Gct>Cct p.A267P ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000357899.4_Missense_Mutation_p.A267P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) ACATAATCAGCCATTCTTCTA 0.433 7 143 --- --- --- --- DDX47 51202 broad.mit.edu 37 12 12976860 12976860 + Missense_Mutation SNP C C A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr12:12976860C>A ENST00000358007.3 + 8 829 c.807C>A c.(805-807)ttC>ttA p.F269L DDX47_ENST00000352940.4_Intron NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 269 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) TTATGATATTCTGCAGCACCT 0.413 4 138 --- --- --- --- NTRK3 4916 broad.mit.edu 37 15 88576148 88576148 + Missense_Mutation SNP G G A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr15:88576148G>A ENST00000394480.2 - 14 1846 c.1525C>T c.(1525-1527)Cct>Tct p.P509S NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000360948.2_Missense_Mutation_p.P509S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TCAATGACAGGGATGCGAGTC 0.607 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 12 16 --- --- --- --- ITGA3 3675 broad.mit.edu 37 17 48151325 48151325 + Missense_Mutation SNP T T A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr17:48151325T>A ENST00000320031.8 + 8 1532 c.1202T>A c.(1201-1203)aTc>aAc p.I401N ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N|ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 401 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 AAAGTGTACATCTATCACAGT 0.577 25 40 --- --- --- --- SPIRE1 56907 broad.mit.edu 37 18 12463458 12463458 + Silent SNP G G T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr18:12463458G>T ENST00000409402.4 - 12 1797 c.1530C>A c.(1528-1530)ccC>ccA p.P510P SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P|SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000464481.1_5'UTR NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 510 cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 TCTCTGGCTGGGGTGTTGATG 0.458 5 45 --- --- --- --- MAG 4099 broad.mit.edu 37 19 35800810 35800810 + Missense_Mutation SNP C C T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr19:35800810C>T ENST00000361922.4 + 8 1415 c.1265C>T c.(1264-1266)gCg>gTg p.A422V MAG_ENST00000392213.3_Missense_Mutation_p.A422V|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.A397V NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 422 Ig-like C2-type 4. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) TCCCACTGCGCGGCAGCCCGA 0.677 5 201 --- --- --- --- NOVA2 4858 broad.mit.edu 37 19 46443285 46443285 + Missense_Mutation SNP G G A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr19:46443285G>A ENST00000263257.5 - 4 1509 c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 439 KH 3. nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) ATCTGGATGCGAGCGCCCGTC 0.657 20 207 --- --- --- --- ZNF134 7693 broad.mit.edu 37 19 58132424 58132424 + Missense_Mutation SNP G G A TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr19:58132424G>A ENST00000396161.5 + 3 1247 c.937G>A c.(937-939)Gaa>Aaa p.E313K NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 313 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TCACACTGGAGAAAATCCTTA 0.423 88 98 --- --- --- --- COL6A1 1291 broad.mit.edu 37 21 47410706 47410706 + Missense_Mutation SNP G G A rs121912935 TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr21:47410706G>A ENST00000361866.3 + 14 1136 c.1022G>A c.(1021-1023)gGc>gAc p.G341D NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 341 Triple-helical region. G -> D (in BM).|G -> V (in BM). axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GGGTACCCAGGCCTGCCAGGC 0.542 42 57 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8484295 8484295 + Frame_Shift_Del DEL T T - TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5949750-2444-4081-ad78-05d4614f4467 9e26e7c1-58ba-4e1d-b9bc-bdac163f4834 g.chr9:8484295delT ENST00000381196.4 - 27 3780 c.3237delA c.(3235-3237)aaafs p.K1079fs PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1079 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATGAATATGATTTCTCAGGCT 0.448 TSP Lung(15;0.13) 2 4 --- --- --- ---