Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ACE 1636 broad.mit.edu 37 17 61557164 61557164 + Silent SNP C C T TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr17:61557164C>T ENST00000290866.4 + 4 570 c.546C>T c.(544-546)taC>taT p.Y182Y ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.Y182Y|ACE_ENST00000428043.1_Silent_p.Y182Y NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 182 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CGCGAAGCTACGCCATGCTCC 0.592000 7 164 0 0 1 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44028017 44028017 + Missense_Mutation SNP G G A rs141895414 TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr2:44028017G>A ENST00000260605.8 + 9 792 c.692G>A c.(691-693)cGt>cAt p.R231H DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.R105H|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.R232H|DYNC2LI1_ENST00000489222.2_3'UTR NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 231 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTAAAAATACGTGGAGTTATC 0.313000 5 37 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr4:71347185T>C ENST00000413702.1 + 4 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 6 385 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr19:53116804G>A ENST00000597597.1 - 2 3267 c.1014C>T c.(1012-1014)atC>atT p.I338I ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 338 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I338I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413000 4 113 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458716 248458716 + Silent SNP C C T TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:248458716C>T ENST00000317996.1 - 1 164 c.165G>A c.(163-165)agG>agA p.R55R NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AGTACATGGGCCTGTGGAGCC 0.527000 8 30 0 0 1 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043861 26043861 + Missense_Mutation SNP G G C TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr6:26043861G>C ENST00000357905.2 - 1 24 c.25C>G c.(25-27)Cca>Gca p.P9A NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 9 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 TTAGGGGCTGGAGCAGACTTA 0.458000 4 46 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874077 36874077 + Missense_Mutation SNP C C A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr3:36874077C>A ENST00000301807.6 - 21 7112 c.5215G>T c.(5215-5217)Gcc>Tcc p.A1739S TRANK1_ENST00000429976.2_Missense_Mutation_p.A2289S|TRANK1_ENST00000428977.2_Missense_Mutation_p.A1739S NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2289 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding p.A1739S(1)|p.A1732S(1)|p.A2289S(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GCTTGCATGGCACTCAGCCAC 0.498000 5 40 0.184627 0.184627 1 1 0 TFEB 7942 broad.mit.edu 37 6 41658430 41658430 + Silent SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr6:41658430G>A ENST00000394283.1 - 3 1665 c.439C>T c.(439-441)Ctg>Ttg p.L147L TFEB_ENST00000373033.1_Silent_p.L147L|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000230323.4_Silent_p.L147L|TFEB_ENST00000403298.4_Silent_p.L147L|TFEB_ENST00000358871.2_Silent_p.L161L P19484 TFEB_HUMAN transcription factor EB 147 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CCAATGTGCAGCATGGCCATG 0.642000 T ALPHA renal (childhood epithelioid) 3 59 0 0 1 0 0 MAPK7 5598 broad.mit.edu 37 17 19284535 19284535 + Missense_Mutation SNP C C T TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr17:19284535C>T ENST00000308406.5 + 4 1399 c.1013C>T c.(1012-1014)gCa>gTa p.A338V MAPK7_ENST00000395604.3_Missense_Mutation_p.A338V|MAPK7_ENST00000299612.7_Missense_Mutation_p.A199V|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A338V NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 338 Necessary for oligomerization (By similarity).|Poly-Ala.|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CGCATCTCAGCAGCTGCTGCC 0.622000 6 72 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176289826 176289826 + Missense_Mutation SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr5:176289826G>A ENST00000329542.4 + 2 546 c.272G>A c.(271-273)cGc>cAc p.R91H NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 91 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGATCGAGCGCAGCACAGAC 0.677000 5 321 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 3 31 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 4 40 0 0 1 0 0 FBLIM1 54751 broad.mit.edu 37 1 16101379 16101379 + Silent SNP C C T TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:16101379C>T ENST00000441801.2 + 6 1185 c.978C>T c.(976-978)tgC>tgT p.C326C FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000375766.3_Intron|FBLIM1_ENST00000400773.1_Intron NM_001024215.1 NP_001019386.1 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 0 LIM zinc-binding 3.|PLEKHC1-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) GTCCTGGGTGCTGGGCCAGAG 0.572000 3 19 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037126 129037126 + Silent SNP A A G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr5:129037126A>G ENST00000274487.4 + 20 3127 c.2982A>G c.(2980-2982)aaA>aaG p.K994K CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 994 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTTGTGGAAAAGGAATGCAGA 0.483000 3 130 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223900426 223900426 + Silent SNP C C G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:223900426C>G ENST00000295006.5 + 1 393 c.84C>G c.(82-84)ctC>ctG p.L28L CAPN2_ENST00000433674.2_Intron NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 28 proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) TCAAGTACCTCAACCAGGACT 0.716000 9 16 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4674358 4674358 + Missense_Mutation SNP A A C TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr11:4674358A>C ENST00000396952.5 + 2 1252 c.602A>C c.(601-603)tAt>tCt p.Y201S OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) AATGTCGTCTATGGCCTTATC 0.493000 4 136 0 0 1 0 0 CLCNKA 0 broad.mit.edu 37 1 16352610 16352610 + Silent SNP A A G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:16352610A>G ENST00000375692.1 + 6 494 c.366A>G c.(364-366)ggA>ggG p.G122G CLCNKA_ENST00000420078.1_Silent_p.G122G|CLCNKA_ENST00000331433.4_Silent_p.G122G|CLCNKA_ENST00000439316.2_Silent_p.G79G|CLCNKA_ENST00000464764.1_3'UTR P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 122 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) AAGGTTCTGGAATCCCGGAGC 0.552000 49 338 0 0 1 0 0 FAHD2A 51011 broad.mit.edu 37 2 96071501 96071501 + Silent SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr2:96071501G>A ENST00000233379.4 + 2 348 c.195G>A c.(193-195)acG>acA p.T65T FAHD2A_ENST00000447036.1_Silent_p.T65T NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 65 hydrolase activity|metal ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 TCCCGAAGACGATGACGCAGT 0.617000 7 27 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49443673 49443673 + Missense_Mutation SNP T T C TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr12:49443673T>C ENST00000301067.7 - 11 3697 c.3698A>G c.(3697-3699)gAg>gGg p.E1233G NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCCACCCCCCTCCGGGTCTGG 0.587000 3 86 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390463 45390463 + Silent SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr6:45390463G>A ENST00000371438.1 + 2 550 c.192G>A c.(190-192)caG>caA p.Q64Q RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 64 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcagcaacagcagc 0.736000 4 34 0 0 1 0 0 PAX6 5080 broad.mit.edu 37 11 31816308 31816308 + Silent SNP T T C TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr11:31816308T>C ENST00000419022.1 - 9 1062 c.594A>G c.(592-594)ggA>ggG p.G198G PAX6_ENST00000379111.2_Silent_p.G184G|PAX6_ENST00000379132.3_Silent_p.G184G|PAX6_ENST00000379107.2_Silent_p.G198G|PAX6_ENST00000379129.2_Silent_p.G198G|PAX6_ENST00000379123.5_Silent_p.G184G|PAX6_ENST00000241001.8_Silent_p.G184G|PAX6_ENST00000379115.4_Silent_p.G198G NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 184 Gln/Gly-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TGGTATTCTCTCCCCCTCCTT 0.463000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 3 80 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12315446 12315446 + Silent SNP A A G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr11:12315446A>G ENST00000256186.2 + 3 759 c.468A>G c.(466-468)aaA>aaG p.K156K NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 156 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) ACCGGGAAAAAGGGAGTACTG 0.562000 3 37 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 21 58 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C A rs28934576 by1000genomes TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr17:7577120C>A ENST00000420246.2 - 8 950 c.818G>T c.(817-819)cGt>cTt p.R273L TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 15 10 1.5739e-10 1.6647e-10 1 1 0 HIC2 23119 broad.mit.edu 37 22 21799992 21799992 + Missense_Mutation SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr22:21799992G>A ENST00000443632.2 + 2 1180 c.808G>A c.(808-810)Gca>Aca p.A270T HIC2_ENST00000407598.2_Missense_Mutation_p.A270T|HIC2_ENST00000407464.2_Missense_Mutation_p.A270T Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 270 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) TCCCGATGACGCAGCCCAGCT 0.672000 4 162 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 4 125 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 4 64 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 5 115 0 0 1 0 0 GCNT3 9245 broad.mit.edu 37 15 59911328 59911328 + Silent SNP G G A rs139760962 TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr15:59911328G>A ENST00000396065.1 + 3 1339 c.891G>A c.(889-891)gcG>gcA p.A297A GCNT3_ENST00000560585.1_Silent_p.A297A NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 297 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAGGGAATGCGTACATTGTGG 0.408000 21 146 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 196812552 196812552 + Silent SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr3:196812552G>A ENST00000346964.2 - 17 2025 c.1836C>T c.(1834-1836)atC>atT p.I612I DLG1_ENST00000443183.1_Silent_p.I496I|DLG1_ENST00000314062.3_Silent_p.I561I|DLG1_ENST00000450955.1_Silent_p.I579I|DLG1_ENST00000452595.1_Silent_p.I496I|DLG1_ENST00000419354.1_Silent_p.I612I|DLG1_ENST00000448528.2_Silent_p.I612I|DLG1_ENST00000357674.4_Silent_p.I579I|DLG1_ENST00000392382.2_Silent_p.I579I|DLG1_ENST00000422288.1_Silent_p.I561I NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 612 SH3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TAACATGGAGGATATCTCCAA 0.448000 6 97 0 0 1 0 0 RASL11A 387496 broad.mit.edu 37 13 27847183 27847183 + Missense_Mutation SNP A A T TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr13:27847183A>T ENST00000241463.4 + 4 899 c.281A>T c.(280-282)cAg>cTg p.Q94L RASL11A_ENST00000480803.1_3'UTR NM_206827.1 NP_996563.1 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 94 Small GTPase-like. positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 10 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) AGCCTCCCCCAGGTCGTCGAT 0.498000 4 124 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27434129 27434129 + Missense_Mutation SNP C C T TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr17:27434129C>T ENST00000527372.1 - 20 3590 c.3410G>A c.(3409-3411)gGg>gAg p.G1137E MYO18A_ENST00000531253.1_Missense_Mutation_p.G1137E|MYO18A_ENST00000354329.4_Missense_Mutation_p.G1137E|MYO18A_ENST00000533112.1_Missense_Mutation_p.G1137E NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1137 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GTAGTTACGCCCGTGTTTCTT 0.612000 41 119 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76814188 76814188 + Nonsense_Mutation SNP A A C TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chrX:76814188A>C ENST00000373344.5 - 29 6670 c.6456T>G c.(6454-6456)taT>taG p.Y2152* ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y2114*|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2152 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GTCCAAAGCGATAAACTCTGA 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 36 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18218071 18218071 + Missense_Mutation SNP T T G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr6:18218071T>G ENST00000388870.2 + 21 2584 c.2343T>G c.(2341-2343)gaT>gaG p.D781E KDM1B_ENST00000297792.5_Missense_Mutation_p.D548E|KDM1B_ENST00000546309.2_Missense_Mutation_p.D71E|KDM1B_ENST00000397244.1_Missense_Mutation_p.D549E Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 780 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 AGGCCTACGATATCATTGCTG 0.438000 4 81 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18432755 18432755 + Missense_Mutation SNP A A G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr8:18432755A>G ENST00000440756.2 - 13 2630 c.2528T>C c.(2527-2529)tTg>tCg p.L843S PSD3_ENST00000327040.8_Missense_Mutation_p.L841S|PSD3_ENST00000286485.8_Missense_Mutation_p.L307S|PSD3_ENST00000523619.1_Missense_Mutation_p.L776S|PSD3_ENST00000428502.2_Missense_Mutation_p.L170S Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 842 PH. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) AGCGTTTTTCAAGTCCTCTTC 0.418000 3 69 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30001004 30001004 + Nonsense_Mutation SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr15:30001004G>A ENST00000346128.6 - 25 5083 c.4609C>T c.(4609-4611)Cga>Tga p.R1537* TJP1_ENST00000356107.6_Nonsense_Mutation_p.R1537*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R1457*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.R1461* NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1537 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction p.R1537R(1) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TCAAATGGTCGGGCAGAACTT 0.403000 71 160 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39227182 39227182 + Missense_Mutation SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr3:39227182G>A ENST00000340369.3 - 2 3983 c.3755C>T c.(3754-3756)gCc>gTc p.A1252V XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1252 Pro-rich. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGGAACAAAGGCATTATGGGG 0.622000 10 25 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 4 38 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57861814 57861814 + Missense_Mutation SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr12:57861814G>A ENST00000228682.2 + 10 1206 c.1115G>A c.(1114-1116)cGc>cAc p.R372H GLI1_ENST00000546141.1_Missense_Mutation_p.R331H|GLI1_ENST00000543426.1_Missense_Mutation_p.R244H NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 372 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 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) TGCACCAAACGCTATACAGAT 0.542000 10 91 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378296 16378296 + Silent SNP A A C TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:16378296A>C ENST00000375679.4 + 14 1500 c.1389A>C c.(1387-1389)ccA>ccC p.P463P CLCNKB_ENST00000375667.3_Silent_p.P294P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCATCATGCCAGGGGGGTATG 0.622000 5 124 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898019 6898019 + Missense_Mutation SNP C C G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr11:6898019C>G ENST00000379829.2 + 1 164 c.141C>G c.(139-141)atC>atG p.I47M NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCCTCATCATCCTGGTCACTA 0.453000 9 125 0 0 1 0 0 NDUFA3 4696 broad.mit.edu 37 19 54611759 54611759 + Missense_Mutation SNP A A G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr19:54611759A>G ENST00000391764.3 + 4 186 c.176A>G c.(175-177)aAg>aGg p.K59R TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391759.1_Intron O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 60 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1) 2 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) NADH(DB00157) GCTGGGGAAAAGGGCCACAGG 0.602000 3 73 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 4 62 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084484 248084484 + Silent SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:248084484G>A ENST00000319968.4 + 1 165 c.165G>A c.(163-165)acG>acA p.T55T NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCTCCACACGCCCATGTACT 0.522000 4 111 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 4 134 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116801 53116801 + Silent SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr19:53116801G>A ENST00000597597.1 - 2 3270 c.1017C>T c.(1015-1017)caC>caT p.H339H ZNF83_ENST00000545872.1_Silent_p.H339H|ZNF83_ENST00000391789.4_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H339H|ZNF83_ENST00000541777.2_Silent_p.H339H|ZNF83_ENST00000536937.1_Silent_p.H339H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H339H|ZNF83_ENST00000600714.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 339 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTGTGGATTCTCC 0.418000 4 115 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 5 284 0 0 1 0 0 MAPK7 5598 broad.mit.edu 37 17 19283952 19283952 + Missense_Mutation SNP C C G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr17:19283952C>G ENST00000308406.5 + 4 816 c.430C>G c.(430-432)Ctg>Gtg p.L144V MAPK7_ENST00000395604.3_Missense_Mutation_p.L144V|MAPK7_ENST00000299612.7_Missense_Mutation_p.L5V|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.L144V NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 144 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) GGAAAGCGACCTGCACCAGAT 0.582000 14 91 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10699141 10699146 + In_Frame_Del DEL TCGTCG TCGTCG - TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:10699141_10699146delTCGTCG ENST00000377022.3 - 21 5450_5455 c.5133_5138delCGACGA c.(5131-5139)gag>ga p.DDE1711del NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1711 Asp-rich.|Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.D1711_D1712delDD(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCGCAGgtcctcgtcgtcgtcgtcct 0.752 7 6 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 7 445 --- --- --- --- WDR78 79819 broad.mit.edu 37 1 67390426 67390426 + Frame_Shift_Del DEL T T - TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr1:67390426delT ENST00000371026.3 - 1 144 c.89delA c.(88-90)agfs p.K30fs WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 30 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GCACCACCCCTTTTTTTGGCC 0.622 7 220 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 7 52 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 17 429 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 8 381 --- --- --- --- POM121 9883 broad.mit.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC rs67569765 byFrequency TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr7:72413723_72413724insCTC ENST00000395270.1 + 14 3437_3438 c.2396_2397insCTC c.(2395-2397)ttt>tCTCtt p.799_799F>SL POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1064 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACTGCTGTCTTCTTCGGTGCAG 0.663 7 118 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101721933 101721933 + Frame_Shift_Del DEL T T - rs112966887 TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr8:101721933delT ENST00000318607.5 - 8 2127 c.999delA c.(997-999)aafs p.K333fs PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K288fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K301fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 333 RRM 4. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) AACCAAACCCTTTGCTGCGAC 0.383 8 52 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 7 224 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 3 4 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 7 116 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 175 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 8 39 --- --- --- --- KCTD1 284252 broad.mit.edu 37 18 24128262 24128264 + In_Frame_Del DEL TCC TCC - TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr18:24128262_24128264delTCC ENST00000417602.1 - 1 236_238 c.237_239delGGA c.(235-240)gac>ga p.ED79del KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000408011.3_Intron NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 0 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) cccacctccgtcctcctcctcct 0.690 3 5 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 11 113 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a240da2-0f4a-4b1c-b220-b220ad4d5749 216b595d-09da-487c-b319-fc9748c68efd g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 9 73 --- --- --- ---