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 ATG4C 84938 broad.mit.edu 37 1 63307165 63307165 + Missense_Mutation SNP T T C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr1:63307165T>C ENST00000317868.4 + 10 1363 c.1156T>C c.(1156-1158)Ttt>Ctt p.F386L ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L NM_032852.3 NP_116241.2 Q96DT6 ATG4C_HUMAN autophagy related 4C, cysteine peptidase 386 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity p.F386L(2) ATG4C/FBXO38(2) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2) 19 TACAATAGGATTTTACTGTCG 0.303 4 137 --- --- --- --- DEPDC1 55635 broad.mit.edu 37 1 68947728 68947728 + Splice_Site SNP C C A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr1:68947728C>A ENST00000456315.2 - 8 1877 c.e8+1 RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding p.?(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) AACAGCCTTACTTTGTGTGCC 0.353 87 111 --- --- --- --- TGFBR3 7049 broad.mit.edu 37 1 92185486 92185486 + Silent SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr1:92185486C>T ENST00000212355.4 - 9 1842 c.1377G>A c.(1375-1377)gaG>gaA p.E459E TGFBR3_ENST00000525962.1_Silent_p.E459E|TGFBR3_ENST00000370399.2_Silent_p.E458E NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 459 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding p.E459E(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CGATCATCTTCTCATTGTCAC 0.502 7 221 --- --- --- --- REG4 83998 broad.mit.edu 37 1 120342381 120342381 + Silent SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr1:120342381C>T ENST00000354219.1 - 5 709 c.270G>A c.(268-270)caG>caA p.Q90Q REG4_ENST00000530654.1_Silent_p.Q90Q|REG4_ENST00000256585.5_Silent_p.Q90Q NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 90 C-type lectin. extracellular region sugar binding p.Q90Q(1) central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) TCCATATCGGCTGGCTTCTCT 0.522 20 322 --- --- --- --- PGLYRP3 114771 broad.mit.edu 37 1 153274900 153274900 + Missense_Mutation SNP C C A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr1:153274900C>A ENST00000290722.1 - 5 765 c.713G>T c.(712-714)tGt>tTt p.C238F NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 238 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.C238F(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TCCAATGTCACAAAAGTTCCG 0.473 104 469 --- --- --- --- PM20D1 148811 broad.mit.edu 37 1 205817085 205817085 + Missense_Mutation SNP G G T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr1:205817085G>T ENST00000367136.4 - 2 228 c.184C>A c.(184-186)Cca>Aca p.P62T PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 62 extracellular region metal ion binding|peptidase activity p.P62T(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GTCACTGTTGGAATCTGGATG 0.408 57 84 --- --- --- --- ADCK3 56997 broad.mit.edu 37 1 227153070 227153070 + Nonsense_Mutation SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr1:227153070C>T ENST00000366779.1 + 8 3318 c.547C>T c.(547-549)Cag>Tag p.Q183* ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*|ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131* Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 183 cell death mitochondrion ATP binding|protein serine/threonine kinase activity p.Q183*(1) endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 GAAGGCCCGGCAGGCTAAGGC 0.617 30 3 --- --- --- --- ARID4B 51742 broad.mit.edu 37 1 235490233 235490233 + Translation_Start_Site SNP A A C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr1:235490233A>C ENST00000264183.3 - 2 499 c.2T>G c.(1-3)aTg>aGg p.M1R ARID4B_ENST00000366603.2_Start_Codon_SNP_p.M1R|ARID4B_ENST00000349213.3_Start_Codon_SNP_p.M1R NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding p.M1R(1) NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TCTTACCTTCATGATGACTCT 0.522 136 28 --- --- --- --- IWS1 55677 broad.mit.edu 37 2 128262862 128262862 + Missense_Mutation SNP G G A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr2:128262862G>A ENST00000295321.4 - 3 876 c.617C>T c.(616-618)cCt>cTt p.P206L IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 206 Glu-rich. transcription, DNA-dependent nucleus DNA binding p.P206L(1) cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) ACTCATTCGAGGTTTGGGAGG 0.493 101 250 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G C rs28931588 TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr3:41266097G>C ENST00000349496.5 + 3 374 c.94G>C c.(94-96)Gac>Cac p.D32H CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 32 D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GTCTTACCTGGACTCTGGAAT 0.478 D32N(KE39_STOMACH) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 19 31 --- --- --- --- NAAA 27163 broad.mit.edu 37 4 76861916 76861916 + Missense_Mutation SNP C C G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr4:76861916C>G ENST00000286733.4 - 1 288 c.187G>C c.(187-189)Gcg>Ccg p.A63P NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P|NAAA_ENST00000507956.1_Missense_Mutation_p.A63P NM_014435.3 NP_055250.2 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase 63 lipid metabolic process lysosome hydrolase activity p.A63P(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 TGCGCCATCGCGGCGCGCACC 0.706 14 53 --- --- --- --- MTTP 4547 broad.mit.edu 37 4 100534280 100534280 + Missense_Mutation SNP C C A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr4:100534280C>A ENST00000457717.1 + 16 2456 c.2200C>A c.(2200-2202)Cta>Ata p.L734I MTTP_ENST00000265517.5_Missense_Mutation_p.L734I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 734 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.L734I(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) ACTTATTCTGCTAATAGATCA 0.408 39 34 --- --- --- --- TACR3 6870 broad.mit.edu 37 4 104511030 104511030 + Missense_Mutation SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr4:104511030C>T ENST00000304883.2 - 5 1347 c.1207G>A c.(1207-1209)Gtg>Atg p.V403M RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 403 integral to plasma membrane tachykinin receptor activity p.V403M(1) 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) ATTCTGGTCACGGTGTACATA 0.498 166 232 --- --- --- --- MEF2C 4208 broad.mit.edu 37 5 88027676 88027676 + Missense_Mutation SNP A A G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr5:88027676A>G ENST00000504921.2 - 7 1352 c.680T>C c.(679-681)gTc>gCc p.V227A MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000437473.2_Missense_Mutation_p.V227A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 227 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.V225A(1)|p.V227A(1) breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) ACCAGGTGAGACCAGCAGACC 0.413 HNSCC(66;0.2) 28 45 --- --- --- --- AIM1 202 broad.mit.edu 37 6 106969054 106969054 + Nonsense_Mutation SNP T T A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr6:106969054T>A ENST00000369066.3 + 2 3234 c.2747T>A c.(2746-2748)tTg>tAg p.L916* NM_001624.2 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 916 sugar binding p.L916*(1) breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CACTCCAGTTTGAAAAGTCCA 0.423 11 167 --- --- --- --- DCBLD1 285761 broad.mit.edu 37 6 117824981 117824981 + Missense_Mutation SNP C C G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr6:117824981C>G ENST00000338728.5 + 2 284 c.164C>G c.(163-165)tCt>tGt p.S55C GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C|DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 55 CUB. cell adhesion integral to membrane p.S55C(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) ACAATGACATCTAAGAATTAT 0.428 65 99 --- --- --- --- ENPP1 5167 broad.mit.edu 37 6 132195477 132195477 + Splice_Site SNP A A G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr6:132195477A>G ENST00000360971.2 + 16 1655 c.1635A>G c.(1633-1635)caA>caG p.Q545Q NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 545 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity p.Q493Q(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CAAATATGCAAGTGAGTAAAC 0.279 10 252 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24874112 24874112 + Missense_Mutation SNP T T C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr7:24874112T>C ENST00000313367.2 - 15 2190 c.1739A>G c.(1738-1740)gAa>gGa p.E580G OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 580 lipid transport lipid binding|protein binding p.E580G(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 CACCATCCTTTCCAGGGGGCT 0.642 66 116 --- --- --- --- TNKS 8658 broad.mit.edu 37 8 9605603 9605603 + Missense_Mutation SNP A A T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr8:9605603A>T ENST00000310430.6 + 18 2739 c.2713A>T c.(2713-2715)Act>Tct p.T905S TNKS_ENST00000518281.1_Missense_Mutation_p.T668S NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 905 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding p.T905S(3) NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) GTGGGCGTTTACTCCCCTCCA 0.478 63 36 --- --- --- --- PRSS55 203074 broad.mit.edu 37 8 10388864 10388864 + Missense_Mutation SNP T T C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr8:10388864T>C ENST00000328655.3 + 3 447 c.407T>C c.(406-408)aTa>aCa p.I136T PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 136 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity p.I136T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 TCCATGGAAATAAAGGAGGTC 0.517 169 63 --- --- --- --- NEFM 4741 broad.mit.edu 37 8 24775968 24775968 + Missense_Mutation SNP A A T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr8:24775968A>T ENST00000221166.5 + 3 3382 c.2600A>T c.(2599-2601)gAt>gTt p.D867V NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V P07197 NFM_HUMAN neurofilament, medium polypeptide 867 Tail. neurofilament protein binding|structural constituent of cytoskeleton p.D867V(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GAGGGGGGAGATGGTGCTACC 0.438 55 14 --- --- --- --- CYP7B1 9420 broad.mit.edu 37 8 65537016 65537016 + Missense_Mutation SNP C C A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr8:65537016C>A ENST00000310193.3 - 2 376 c.203G>T c.(202-204)aGg>aTg p.R68M NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 68 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity p.R68M(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TTTCATGAACCTTAAGGGGTC 0.383 84 383 --- --- --- --- CCNE2 9134 broad.mit.edu 37 8 95895044 95895044 + Missense_Mutation SNP T T G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr8:95895044T>G ENST00000520509.1 - 10 1160 c.908A>C c.(907-909)cAt>cCt p.H303P CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P O96020 CCNE2_HUMAN cyclin E2 303 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding p.H303P(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) GGAGGTAAAATGGCACAAGGC 0.383 89 371 --- --- --- --- TRPS1 7227 broad.mit.edu 37 8 116426955 116426955 + Missense_Mutation SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr8:116426955C>T ENST00000395715.3 - 7 3758 c.3181G>A c.(3181-3183)Gat>Aat p.D1061N TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N|TRPS1_ENST00000220888.5_Missense_Mutation_p.D1048N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 1048 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D1061N(2)|p.D1048N(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTCCTGGATCTCCAGTACTT 0.438 Langer-Giedion syndrome 8 519 --- --- --- --- KHDRBS3 10656 broad.mit.edu 37 8 136554944 136554944 + Missense_Mutation SNP G G T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr8:136554944G>T ENST00000355849.5 + 3 665 c.255G>T c.(253-255)aaG>aaT p.K85N KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 85 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding p.K85N(1) NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) ATTCTCTGAAGCGTTTACAAG 0.368 87 366 --- --- --- --- TBC1D2 55357 broad.mit.edu 37 9 100991289 100991289 + Missense_Mutation SNP A A C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr9:100991289A>C ENST00000375066.5 - 5 1014 c.923T>G c.(922-924)gTg>gGg p.V308G TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V308G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 308 Interaction with RAC1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity p.V308G(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CAAGGCTGCCACTTTCTCCTG 0.542 61 88 --- --- --- --- COL27A1 85301 broad.mit.edu 37 9 117068939 117068939 + Missense_Mutation SNP T T C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr9:117068939T>C ENST00000356083.3 + 58 5469 c.5078T>C c.(5077-5079)cTc>cCc p.L1693P NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1693 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent p.L1693P(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TGCAGGGACCTCATGGACTGT 0.582 OREG0019417 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 58 --- --- --- --- CHAT 1103 broad.mit.edu 37 10 50854677 50854677 + Missense_Mutation SNP A A T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr10:50854677A>T ENST00000395562.2 + 9 1461 c.992A>T c.(991-993)tAc>tTc p.Y331F CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000337653.2_Missense_Mutation_p.Y413F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F NM_001142933.1|NM_001142934.1 NP_001136405|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 413 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.Y413F(1) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GGCGGAGGCTACAGCAAGAAC 0.632 33 48 --- --- --- --- GPR123 84435 broad.mit.edu 37 10 134942935 134942935 + Silent SNP T T C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr10:134942935T>C ENST00000607359.1 + 16 3760 c.3760T>C c.(3760-3762)Ttg>Ctg p.L1254L GPR123_ENST00000392607.3_Silent_p.L535L|GPR123_ENST00000392606.2_Silent_p.L438L Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 535 integral to membrane|plasma membrane G-protein coupled receptor activity p.L1254L(1)|p.L535L(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CAAGGGTAAATTGCTAGAAGG 0.632 16 18 --- --- --- --- GTF2H1 2965 broad.mit.edu 37 11 18362866 18362866 + Silent SNP A A G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr11:18362866A>G ENST00000265963.4 + 6 826 c.666A>G c.(664-666)acA>acG p.T222T GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T|GTF2H1_ENST00000453096.2_Silent_p.T222T NM_005316.3 NP_005307.1 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 62kDa 222 BSD 2. mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding p.T222T(2) endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 AATTCTGGACACGTTTTTTCC 0.363 Nucleotide excision repair (NER) 53 99 --- --- --- --- OR9Q2 219957 broad.mit.edu 37 11 57958582 57958582 + Missense_Mutation SNP T T G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr11:57958582T>G ENST00000311591.3 + 1 677 c.620T>G c.(619-621)aTg>aGg p.M207R NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M207R(1) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CTTTTCGTCATGCCTGCCTGT 0.488 57 95 --- --- --- --- FGFR1OP2 26127 broad.mit.edu 37 12 27109591 27109591 + Missense_Mutation SNP A A G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr12:27109591A>G ENST00000229395.3 + 3 593 c.251A>G c.(250-252)aAa>aGa p.K84R FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R NM_015633.2 NP_056448.1 Q9NVK5 FGOP2_HUMAN FGFR1 oncogene partner 2 84 cytoplasm p.K84R(1) cervix(1)|large_intestine(4)|lung(1)|prostate(2) 8 Colorectal(261;0.0847) CAAGAAAACAAAGGTAAGATA 0.388 35 67 --- --- --- --- GLI1 2735 broad.mit.edu 37 12 57864730 57864730 + Missense_Mutation SNP A A T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr12:57864730A>T ENST00000228682.2 + 12 2298 c.2207A>T c.(2206-2208)gAa>gTa p.E736V GLI1_ENST00000543426.1_Missense_Mutation_p.E608V|GLI1_ENST00000546141.1_Missense_Mutation_p.E695V NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 736 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding p.E736V(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GGGGGACCTGAAGGGGCAGCA 0.602 69 129 --- --- --- --- CCDC41 51134 broad.mit.edu 37 12 94763729 94763729 + Silent SNP T T C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr12:94763729T>C ENST00000397809.5 - 9 1566 c.1017A>G c.(1015-1017)agA>agG p.R339R CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000547575.1_Silent_p.R339R|CCDC41_ENST00000339839.5_Silent_p.R339R NM_016122.2 NP_057206.2 Q9Y592 CCD41_HUMAN coiled-coil domain containing 41 331 p.R339R(1) breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 TATTCCTTTCTCTTTCTAGCT 0.333 5 411 --- --- --- --- RNF6 6049 broad.mit.edu 37 13 26788080 26788080 + Nonsense_Mutation SNP G G A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr13:26788080G>A ENST00000381588.4 - 5 2691 c.1939C>T c.(1939-1941)Caa>Taa p.Q647* RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000468480.1_Intron NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 647 Required for polyubiquitination (By similarity). negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding p.Q647*(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) CAAGGTAATTGCCTGAGCTTG 0.408 82 39 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77718680 77718680 + Missense_Mutation SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr13:77718680C>T ENST00000407578.2 - 49 7469 c.7203G>A c.(7201-7203)atG>atA p.M2401I MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M2363I|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.M2363I(2)|p.M2401I(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CACGGATCAGCATATTCTCAC 0.368 14 106 --- --- --- --- PROZ 8858 broad.mit.edu 37 13 113824784 113824784 + Missense_Mutation SNP A A C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr13:113824784A>C ENST00000342783.4 + 8 704 c.697A>C c.(697-699)Aat>Cat p.N233H PROZ_ENST00000375547.2_Missense_Mutation_p.N211H|PROZ_ENST00000493630.1_3'UTR NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 211 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity p.N211H(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) AATACGGGAAAATTTTGTACT 0.303 5 70 --- --- --- --- UNC79 57578 broad.mit.edu 37 14 94004551 94004551 + Nonsense_Mutation SNP G G T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr14:94004551G>T ENST00000553484.1 + 12 1493 c.1339G>T c.(1339-1341)Gaa>Taa p.E447* UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E447* Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 447 integral to membrane p.E447*(1)|p.E270*(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTGCGCCGTGGAAGCCGTGAT 0.557 16 15 --- --- --- --- TRPM1 4308 broad.mit.edu 37 15 31294406 31294406 + Silent SNP G G A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr15:31294406G>A ENST00000542188.1 - 27 4861 c.4548C>T c.(4546-4548)atC>atT p.I1516I RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I1477I|TRPM1_ENST00000256552.6_Silent_p.I1499I NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1477 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity p.I1477I(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GAGAGCGCGTGATCTTTTGAA 0.478 12 452 --- --- --- --- MYO5C 55930 broad.mit.edu 37 15 52571856 52571856 + Missense_Mutation SNP C C G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr15:52571856C>G ENST00000261839.7 - 3 315 c.154G>C c.(154-156)Gtc>Ctc p.V52L MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_5'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 52 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V52L(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCTGGATTGACAGAATAATCC 0.468 29 30 --- --- --- --- LRRC37B 114659 broad.mit.edu 37 17 30349140 30349140 + Silent SNP A A C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr17:30349140A>C ENST00000327564.7 + 1 1117 c.1056A>C c.(1054-1056)acA>acC p.T352T LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000341671.7_Silent_p.T325T Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 325 integral to membrane p.T325T(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ATGAAGTGACAGTTCAACCTC 0.483 70 105 --- --- --- --- KRT25 147183 broad.mit.edu 37 17 38905556 38905556 + Nonsense_Mutation SNP G G C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr17:38905556G>C ENST00000312150.4 - 7 1257 c.1197C>G c.(1195-1197)taC>taG p.Y399* NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 399 Tail. cytoplasm|intermediate filament structural molecule activity p.Y399*(1) endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CTTTAGACTTGTAACCCCCAG 0.353 12 280 --- --- --- --- SCN4A 6329 broad.mit.edu 37 17 62050100 62050100 + Missense_Mutation SNP C C G TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr17:62050100C>G ENST00000578147.1 - 1 178 c.102G>C c.(100-102)gaG>gaC p.E34D SCN4A_ENST00000435607.1_Missense_Mutation_p.E34D P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 34 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.E34D(2) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGGCCTCCTCCTCCACCGCCC 0.622 16 22 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48604690 48604690 + Missense_Mutation SNP T T A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr18:48604690T>A ENST00000342988.3 + 12 2050 c.1512T>A c.(1510-1512)agT>agA p.S504R SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R|SMAD4_ENST00000586253.1_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 504 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.S504R(2)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TCAGGATGAGTTTTGTGAAAG 0.488 7 69 --- --- --- --- ABCA7 10347 broad.mit.edu 37 19 1058148 1058148 + Silent SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr19:1058148C>T ENST00000263094.6 + 37 5260 c.5029C>T c.(5029-5031)Ctg>Ttg p.L1677L ABCA7_ENST00000433129.1_Silent_p.L1677L|ABCA7_ENST00000435683.2_Silent_p.L1539L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1677 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity p.L1677L(1) NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) TGAGCAGAAGCTGCAGGAGGT 0.612 38 10 --- --- --- --- MAP1S 55201 broad.mit.edu 37 19 17836873 17836873 + Missense_Mutation SNP T T A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr19:17836873T>A ENST00000324096.4 + 5 831 c.680T>A c.(679-681)cTg>cAg p.L227Q MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q|MAP1S_ENST00000597681.1_Intron NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 227 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding p.L227Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 TTCGAGCTGCTGGAGCCCCCG 0.687 32 25 --- --- --- --- LILRA4 23547 broad.mit.edu 37 19 54848198 54848198 + Missense_Mutation SNP G G A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr19:54848198G>A ENST00000291759.4 - 6 1225 c.1169C>T c.(1168-1170)gCg>gTg p.A390V AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 390 Ig-like C2-type 4. integral to membrane receptor activity p.A390V(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GTAGGTCCCCGCGTGGGCTGA 0.622 86 130 --- --- --- --- ZIK1 284307 broad.mit.edu 37 19 58101497 58101497 + Silent SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr19:58101497C>T ENST00000597850.1 + 4 533 c.318C>T c.(316-318)gtC>gtT p.V106V ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000599456.1_Silent_p.V51V|ZIK1_ENST00000307468.4_3'UTR NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 106 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V106V(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 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;0.0257) AGATGTGTGTCCCAGTCCTGA 0.463 50 81 --- --- --- --- MYH7B 57644 broad.mit.edu 37 20 33575571 33575571 + Missense_Mutation SNP G G T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr20:33575571G>T ENST00000262873.7 + 16 1488 c.1396G>T c.(1396-1398)Gtg>Ttg p.V466L NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 424 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity p.V466L(1) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCTCCAGGTGGTGTTTGCTGT 0.662 6 171 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45503102 45503102 + Silent SNP T T C TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr21:45503102T>C ENST00000291574.4 + 14 2332 c.2157T>C c.(2155-2157)gcT>gcC p.A719A NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 719 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.A719A(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 CAGGGGTGGCTCTGGAGGAGG 0.572 62 217 --- --- --- --- HDAC6 10013 broad.mit.edu 37 X 48673411 48673411 + Missense_Mutation SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chrX:48673411C>T ENST00000334136.5 + 14 1280 c.1102C>T c.(1102-1104)Cac>Tac p.H368Y HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y|HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y Q9UBN7 HDAC6_HUMAN histone deacetylase 6 368 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.H368Y(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) CCAGCTAACCCACCTGCTCAT 0.642 7 6 --- --- --- --- NR1D2 9975 broad.mit.edu 37 3 24001168 24001168 + Frame_Shift_Del DEL T T - TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr3:24001168delT ENST00000312521.4 + 4 698 c.379delT c.(379-381)tttfs p.F127fs NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 127 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 TTAGGGTTTCTTTCGGAGAAG 0.358 82 127 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578242 7578242 + Frame_Shift_Del DEL C C - TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr17:7578242delC ENST00000420246.2 - 6 739 c.607delG c.(607-609)gtgfs p.V203fs TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 203 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (in a sporadic cancer; 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.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(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) AAATACTCCACACGCAAATTT 0.557 111 """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) 28 13 --- --- --- --- SRSF2 6427 broad.mit.edu 37 17 74732433 74732456 + In_Frame_Del DEL GACCGAGATCGAGAACGAGTGCGG GACCGAGATCGAGAACGAGTGCGG - TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr17:74732433_74732456delGACCGAGATCGAGAACGAGTGCGG ENST00000392485.2 - 2 625_648 c.453_476delCCGCACTCGTTCTCGATCTCGGTC c.(451-477)tcccgcactcgttctcgatctcggtcg>tcg p.151_159SRTRSRSRS>S RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.139_147SRTRSRSRS>S|SRSF2_ENST00000359995.5_In_Frame_Del_p.151_159SRTRSRSRS>S|MFSD11_ENST00000588460.1_5'UTR NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 151 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity p.R156R(1)|p.R136R(1) haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 CTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACT 0.661 Mis """MDS, CLL""" 25 231 --- --- --- --- ITSN1 6453 broad.mit.edu 37 21 35195922 35195922 + Frame_Shift_Del DEL T T - TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3953b74a-6ac2-443c-9c61-be6894c76d92 800eb17e-206d-461a-8dad-15d3a09dfb9a g.chr21:35195922delT ENST00000381318.3 + 25 3436 c.3148delT c.(3148-3150)ttcfs p.F1050fs ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1050 SH3 3. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 GGCCGGAGTCTTCCCTTCTAA 0.473 71 115 --- --- --- ---