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 PLIN4 729359 broad.mit.edu 37 19 4510855 4510855 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:4510855G>A ENST00000301286.3 - 3 3074 c.3075C>T c.(3073-3075)aaC>aaT p.N1025N NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 1025 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CTGTCGCCACGTTCCCTGACC 0.647000 8 48 0 0 1 0 0 SEC61A1 29927 broad.mit.edu 37 3 127786357 127786357 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:127786357G>A ENST00000243253.3 + 10 1253 c.1069G>A c.(1069-1071)Gac>Aac p.D357N SEC61A1_ENST00000464451.1_Missense_Mutation_p.D363N|SEC61A1_ENST00000424880.2_Missense_Mutation_p.D237N|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 357 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 CGTGTTAGAAGACCCGGTCCA 0.522000 8 90 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51298100 51298100 + Silent SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:51298100C>G ENST00000270593.1 + 10 1044 c.1044C>G c.(1042-1044)ctC>ctG p.L348L ACPT_ENST00000270594.3_Silent_p.L255L NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 348 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCCTGCCTCTCAGCCTCCCCG 0.677000 76 202 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112998769 112998769 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:112998769C>T ENST00000495514.1 + 13 2823 c.2119C>T c.(2119-2121)Cgc>Tgc p.R707C BOC_ENST00000273395.4_Missense_Mutation_p.R708C|BOC_ENST00000355385.3_Missense_Mutation_p.R707C Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 707 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CTACAGCGGTCGCGTGTACGA 0.627000 6 58 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22922654 22922654 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:22922654C>G ENST00000166244.3 + 9 1825 c.1753C>G c.(1753-1755)Cag>Gag p.Q585E NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 585 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGCACTATCAGAATGGACA 0.657000 5 42 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89350973 89350973 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr16:89350973G>A ENST00000301030.4 - 9 2437 c.1977C>T c.(1975-1977)taC>taT p.Y659Y ANKRD11_ENST00000378330.2_Silent_p.Y659Y NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 659 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCTCATATTCGTAAGTAAAAC 0.383000 11 95 0 0 1 0 0 BLMH 642 broad.mit.edu 37 17 28618492 28618492 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr17:28618492C>G ENST00000261714.6 - 2 222 c.48G>C c.(46-48)caG>caC p.Q16H BLMH_ENST00000394819.3_5'UTR NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 16 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 AATTCAGTTTCTGTATCAGAG 0.572000 7 99 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6655354 6655354 + Missense_Mutation SNP C C A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr11:6655354C>A ENST00000299441.3 - 3 2392 c.1981G>T c.(1981-1983)Gat>Tat p.D661Y RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 661 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTACCCCATCCACAGCTGTC 0.602000 8 73 0.00307968 0.0032089 1 1 0 IGHV3-64 28414 broad.mit.edu 37 14 107113848 107113848 + RNA SNP A A G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr14:107113848A>G ENST00000454421.2 - 0 323 CCCTTCACAGAGTCTGCATAA 0.488000 14 169 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71134994 71134994 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr7:71134994G>C ENST00000333538.5 + 8 1938 c.1304G>C c.(1303-1305)aGa>aCa p.R435T WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 435 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCCGAAAGAAGAGCATTAAGG 0.463000 6 58 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102477157 102477157 + Silent SNP G G T rs149707073 TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr14:102477157G>T ENST00000360184.4 + 32 6650 c.6486G>T c.(6484-6486)tcG>tcT p.S2162S NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2162 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GCCTCCTGTCGGACGTGTTCC 0.552000 10 93 0.00621372 0.00642947 1 1 0 THUMPD3 25917 broad.mit.edu 37 3 9425935 9425935 + Silent SNP T T C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:9425935T>C ENST00000345094.3 + 9 1609 c.1275T>C c.(1273-1275)gcT>gcC p.A425A THUMPD3_ENST00000515662.2_Silent_p.A425A|THUMPD3_ENST00000452837.2_Silent_p.A425A|SETD5-AS1_ENST00000468186.1_RNA NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 425 methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) TTTATCCAGCTTGCCTACGGG 0.428000 35 194 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91726934 91726934 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr7:91726934G>C ENST00000359028.2 + 42 10670 c.10445G>C c.(10444-10446)aGa>aCa p.R3482T AKAP9_ENST00000358100.2_Missense_Mutation_p.R3428T|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3478T Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3482 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GATAGAACTAGAAATTGGGTT 0.358000 T BRAF papillary thyroid 5 27 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579765 43579765 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:43579765G>A ENST00000406487.1 - 3 548 c.450C>T c.(448-450)tcC>tcT p.S150S NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 150 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TGCTGGAGATGGAGGGCTTGG 0.498000 25 122 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8769120 8769120 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr20:8769120G>A ENST00000378641.3 + 28 3611 c.3136G>A c.(3136-3138)Gca>Aca p.A1046T PLCB1_ENST00000378637.2_Missense_Mutation_p.A1046T|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.A1046T NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1046 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GACGGATGTCGCAGAAGAGTG 0.383000 5 11 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77530275 77530275 + Missense_Mutation SNP C C A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:77530275C>A ENST00000461745.1 + 4 1472 c.572C>A c.(571-573)tCc>tAc p.S191Y ROBO2_ENST00000332191.8_Missense_Mutation_p.S191Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.S207Y NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 191 Ig-like C2-type 2. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CTGATGATCTCCAATACCAGG 0.383000 7 73 1.76689e-08 1.92166e-08 1 1 0 SLTM 79811 broad.mit.edu 37 15 59182488 59182488 + Missense_Mutation SNP T T C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr15:59182488T>C ENST00000380516.2 - 15 2158 c.2071A>G c.(2071-2073)Att>Gtt p.I691V SLTM_ENST00000536328.1_Missense_Mutation_p.I260V|AC025918.2_ENST00000452467.1_RNA NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 691 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACCTGTTCAATACGAATGCGT 0.413000 10 62 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89838138 89838138 + Nonsense_Mutation SNP G G C rs113436495 TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr16:89838138G>C ENST00000389301.3 - 23 2129 c.2099C>G c.(2098-2100)tCa>tGa p.S700* FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Nonsense_Mutation_p.S700* NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 700 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CTGAATCTTTGATATCTCAAC 0.517000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 59 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455004 187455004 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr4:187455004G>A ENST00000307161.5 - 2 1093 c.892C>T c.(892-894)Ctg>Ttg p.L298L RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 298 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TTTTGGTTCAGTAGCCCGTAT 0.502000 9 79 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50354235 50354235 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr16:50354235C>T ENST00000394688.3 - 15 1839 c.1680G>A c.(1678-1680)caG>caA p.Q560Q BRD7_ENST00000394689.2_Silent_p.Q561Q Q9NPI1 BRD7_HUMAN bromodomain containing 7 560 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) AACGTTCATTCTGGGCTTCCT 0.463000 9 60 0 0 1 0 0 USP16 10600 broad.mit.edu 37 21 30426392 30426392 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr21:30426392G>A ENST00000334352.4 + 19 2587 c.2356G>A c.(2356-2358)Gaa>Aaa p.E786K USP16_ENST00000399975.3_Missense_Mutation_p.E785K|USP16_ENST00000535828.1_Missense_Mutation_p.E415K|USP16_ENST00000399976.2_Missense_Mutation_p.E786K NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 786 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 GACAGATTTTGAAATGGAATC 0.373000 4 22 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278758 152278758 + Silent SNP A A G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:152278758A>G ENST00000368799.1 - 3 8639 c.8604T>C c.(8602-8604)tcT>tcC p.S2868S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2868 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGAGTGTCTAGAGATGTCGG 0.562000 Ichthyosis 34 621 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811616 140811616 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr5:140811616G>A ENST00000252085.3 + 1 1432 c.1290G>A c.(1288-1290)ccG>ccA p.P430P PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGAACCCCGCCCCTATCCA 0.522000 6 42 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134343004 134343004 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr9:134343004C>T ENST00000357304.4 + 12 1830 c.1775C>T c.(1774-1776)cCc>cTc p.P592L PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P592L|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P592L NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 592 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GAAGAGGCACCCACAGTGTCC 0.557000 4 28 0 0 1 0 0 KCTD5 54442 broad.mit.edu 37 16 2752370 2752370 + Missense_Mutation SNP C C A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr16:2752370C>A ENST00000301738.4 + 5 640 c.566C>A c.(565-567)tCc>tAc p.S189Y KCTD5_ENST00000564195.1_Silent_p.L158L NM_018992.3 NP_061865.1 Q9NXV2 KCTD5_HUMAN potassium channel tetramerization domain containing 5 189 interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 AGCATCGGCTCCTCTTACAAC 0.607000 5 42 0.184627 0.185875 1 1 0 C20orf194 25943 broad.mit.edu 37 20 3240184 3240184 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr20:3240184G>C ENST00000252032.9 - 33 3064 c.2997C>G c.(2995-2997)atC>atG p.I999M C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 999 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 GACTTGGCTTGATGGAGGACT 0.532000 8 82 0 0 1 0 0 GULP1 51454 broad.mit.edu 37 2 189433990 189433990 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:189433990G>A ENST00000409580.1 + 9 1138 c.424G>A c.(424-426)Ggc>Agc p.G142S GULP1_ENST00000409843.1_Missense_Mutation_p.G142S|GULP1_ENST00000359135.3_Missense_Mutation_p.G142S|GULP1_ENST00000409830.1_Missense_Mutation_p.G142S|GULP1_ENST00000409805.1_Missense_Mutation_p.G39S|GULP1_ENST00000409609.1_Missense_Mutation_p.G142S Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 142 PID. apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) TTTAACAATTGGCCAAGCATT 0.333000 4 26 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33704320 33704320 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr13:33704320C>T ENST00000336934.5 - 5 610 c.494G>A c.(493-495)cGa>cAa p.R165Q STARD13_ENST00000255486.4_Missense_Mutation_p.R157Q|STARD13_ENST00000399365.3_Missense_Mutation_p.R47Q NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 165 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TCTGTCTCCTCGAGGGAGCAG 0.562000 5 27 0 0 1 0 0 FA2H 79152 broad.mit.edu 37 16 74750318 74750318 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr16:74750318C>T ENST00000219368.3 - 6 1035 c.966G>A c.(964-966)tcG>tcA p.S322S FA2H_ENST00000544337.1_Silent_p.S109S NM_024306.4 NP_077282.3 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 322 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 CCTTGTGCGGCGAGCCAAAGT 0.602000 4 27 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111145939 111145939 + Missense_Mutation SNP T T C rs149776127 TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:111145939T>C ENST00000485317.1 - 3 2139 c.1466A>G c.(1465-1467)tAt>tGt p.Y489C KCNA2_ENST00000440270.1_Missense_Mutation_p.Y489C|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.Y489C P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 489 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) AATATTCACATAGTTTGTGTT 0.378000 4 40 0 0 1 0 0 APMAP 57136 broad.mit.edu 37 20 24944656 24944656 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr20:24944656G>C ENST00000447138.1 - 8 886 c.851C>G c.(850-852)tCt>tGt p.S284C APMAP_ENST00000217456.2_Silent_p.L348L adipocyte plasma membrane associated protein CTTGACTAAAGAGCTAGAGGG 0.577000 13 61 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45867834 45867834 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr20:45867834G>A ENST00000311275.7 - 15 2526 c.2273C>T c.(2272-2274)cCg>cTg p.P758L ZMYND8_ENST00000471951.2_Missense_Mutation_p.P778L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P695L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P758L|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P778L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P758L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P753L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P753L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P706L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P778L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P758L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P785L NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 758 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CGGTGTTTCCGGGGGAGAATG 0.592000 14 199 0 0 1 0 0 LIG4 3981 broad.mit.edu 37 13 108860980 108860980 + Missense_Mutation SNP T T A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr13:108860980T>A ENST00000356922.4 - 2 2909 c.2637A>T c.(2635-2637)agA>agT p.R879S LIG4_ENST00000405925.1_Missense_Mutation_p.R879S|LIG4_ENST00000442234.1_Missense_Mutation_p.R879S NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 879 BRCT 2. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TAAAAGTTCTTCTAAAAGCTT 0.323000 Non-homologous end-joining 6 22 0 0 1 0 0 STARD8 9754 broad.mit.edu 37 X 67937195 67937195 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chrX:67937195G>A ENST00000252336.6 + 5 571 c.199G>A c.(199-201)Gag>Aag p.E67K STARD8_ENST00000374599.3_Missense_Mutation_p.E147K|STARD8_ENST00000374597.3_Missense_Mutation_p.E67K NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 67 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CTCAAGCTGTGAGAGCGTCCT 0.637000 4 7 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15297741 15297741 + Silent SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:15297741G>C ENST00000263388.2 - 12 1974 c.1899C>G c.(1897-1899)gtC>gtG p.V633V NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 633 EGF-like 16; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CATCACGGCAGACTCCAAAGG 0.587000 8 42 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9965125 9965125 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:9965125G>A ENST00000264833.4 - 6 1287 c.1102C>T c.(1102-1104)Cgc>Tgc p.R368C OLFM2_ENST00000590841.1_Missense_Mutation_p.R290C NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 368 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 CCAGCGCTGCGCTTGGGGTAG 0.622000 32 63 0 0 1 0 0 HAUS4 54930 broad.mit.edu 37 14 23415832 23415832 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr14:23415832C>T ENST00000206474.7 - 10 1246 c.994G>A c.(994-996)Gag>Aag p.E332K HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000342454.8_Missense_Mutation_p.E287K|RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000397409.4_Missense_Mutation_p.E206K|HAUS4_ENST00000541587.1_Missense_Mutation_p.E332K|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G161E|HAUS4_ENST00000490506.1_Missense_Mutation_p.E208K|HAUS4_ENST00000347758.2_Missense_Mutation_p.E206K|HAUS4_ENST00000555367.1_Missense_Mutation_p.E287K|HAUS4_ENST00000555986.1_Missense_Mutation_p.E287K Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 332 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 TCAAACTCCTCCCCAAGGACC 0.562000 6 27 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280897 238280897 + Missense_Mutation SNP T T C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:238280897T>C ENST00000295550.4 - 9 4215 c.3763A>G c.(3763-3765)Ata>Gta p.I1255V COL6A3_ENST00000409809.1_Missense_Mutation_p.I1049V|COL6A3_ENST00000353578.4_Missense_Mutation_p.I1049V|COL6A3_ENST00000346358.4_Missense_Mutation_p.I1055V|COL6A3_ENST00000392003.2_Missense_Mutation_p.I848V|COL6A3_ENST00000347401.3_Missense_Mutation_p.I1054V|COL6A3_ENST00000472056.1_Missense_Mutation_p.I648V|COL6A3_ENST00000392004.3_Missense_Mutation_p.I1049V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1255 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGCCTCTCTATGAGGGTGCGA 0.572000 8 39 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97563232 97563232 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr9:97563232C>T ENST00000375315.2 + 4 1312 c.1312C>T c.(1312-1314)Cgg>Tgg p.R438W C9orf3_ENST00000297979.5_Missense_Mutation_p.R438W|C9orf3_ENST00000395357.2_Missense_Mutation_p.R58W|C9orf3_ENST00000277198.2_Missense_Mutation_p.R438W NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 438 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) CCCGTTCTCTCGGCTGGATGT 0.552000 22 62 0 0 1 0 0 RNF214 257160 broad.mit.edu 37 11 117152353 117152353 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr11:117152353G>A ENST00000530849.1 + 9 819 c.809G>A c.(808-810)gGa>gAa p.G270E RNF214_ENST00000300650.4_Missense_Mutation_p.G425E|RNF214_ENST00000531287.1_Missense_Mutation_p.G270E|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531452.1_Missense_Mutation_p.G425E Q8ND24 RN214_HUMAN ring finger protein 214 425 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) GTGAGGAACGGAGCCAAGCTG 0.458000 13 140 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171056743 171056743 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:171056743G>A ENST00000334231.6 + 3 297 c.297G>A c.(295-297)atG>atA p.M99I MYO3B_ENST00000408978.4_Missense_Mutation_p.M90I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.M90I Q8WXR4 MYO3B_HUMAN myosin IIIB 90 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TTTATGGGATGTTTTACAAAG 0.443000 4 25 0 0 1 0 0 PHLDA3 23612 broad.mit.edu 37 1 201437671 201437671 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:201437671C>T ENST00000367311.3 - 1 641 c.244G>A c.(244-246)Gag>Aag p.E82K PHLDA3_ENST00000367309.1_Missense_Mutation_p.E82K|PHLDA3_ENST00000485436.1_5'UTR NM_012396.3 NP_036528.1 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, member 3 82 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding lung(1)|prostate(1) 2 AAGTCGATCTCGCCGCCCCCT 0.652000 10 77 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113718678 113718678 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr13:113718678G>A ENST00000397030.1 + 6 686 c.649G>A c.(649-651)Gag>Aag p.E217K MCF2L_ENST00000421756.1_Missense_Mutation_p.E188K|MCF2L_ENST00000423482.2_Missense_Mutation_p.E182K|MCF2L_ENST00000375597.4_Missense_Mutation_p.E182K|MCF2L_ENST00000434480.2_Missense_Mutation_p.E190K|MCF2L_ENST00000535094.2_Missense_Mutation_p.E184K|MCF2L_ENST00000375608.3_Missense_Mutation_p.E214K|MCF2L_ENST00000375604.2_Missense_Mutation_p.E241K|MCF2L_ENST00000442652.2_Missense_Mutation_p.E214K|MCF2L_ENST00000375601.3_Missense_Mutation_p.E188K O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 214 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 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_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GCAGCTGACCGAGGACCTGGG 0.602000 11 60 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36081868 36081868 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr4:36081868C>T ENST00000303965.4 - 31 5067 c.4578G>A c.(4576-4578)acG>acA p.T1526T NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1526 PH 5. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCATCCACTCCGTCTGAGTTC 0.383000 3 12 0 0 1 0 0 SLC25A23 79085 broad.mit.edu 37 19 6444307 6444307 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:6444307C>T ENST00000301454.4 - 9 1183 c.1077G>A c.(1075-1077)ctG>ctA p.L359L SLC25A23_ENST00000334510.5_Silent_p.L359L|SLC25A23_ENST00000414491.2_Silent_p.L120L NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 359 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 ACCAGTTCTTCAGAGTCTGGA 0.607000 3 14 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088657 94088657 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr14:94088657C>T ENST00000553484.1 + 31 5298 c.5144C>T c.(5143-5145)tCc>tTc p.S1715F UNC79_ENST00000393151.2_Missense_Mutation_p.S1693F|UNC79_ENST00000256339.4_Missense_Mutation_p.S1516F|UNC79_ENST00000555664.1_Missense_Mutation_p.S1693F Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1693 integral to membrane 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 GAGGATTGTTCCAAAGACTTT 0.527000 15 48 0 0 1 0 0 HMBOX1 79618 broad.mit.edu 37 8 28827755 28827755 + Silent SNP G G T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr8:28827755G>T ENST00000397358.3 + 4 923 c.219G>T c.(217-219)ggG>ggT p.G73G HMBOX1_ENST00000519047.1_Silent_p.G73G|HMBOX1_ENST00000444075.1_Silent_p.G73G|HMBOX1_ENST00000558662.1_Silent_p.G73G|HMBOX1_ENST00000524238.1_Silent_p.G73G|HMBOX1_ENST00000403668.2_Silent_p.G73G|HMBOX1_ENST00000287701.10_Silent_p.G73G|HMBOX1_ENST00000523613.1_Silent_p.G73G|HMBOX1_ENST00000355231.5_Silent_p.G73G NM_024567.3 NP_078843.2 Q6NT76 HMBX1_HUMAN homeobox containing 1 73 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) GTTCATATGGGAATAGTACTA 0.453000 4 38 1 1 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73732376 73732376 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr17:73732376G>A ENST00000200181.3 + 15 1956 c.1769G>A c.(1768-1770)tGt>tAt p.C590Y ITGB4_ENST00000449880.2_Missense_Mutation_p.C590Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.C590Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.C590Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.C590Y|ITGB4_ENST00000584558.1_3'UTR NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 590 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGGGCATCTGTAATGGACGT 0.627000 8 104 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48304149 48304149 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr16:48304149G>A ENST00000285737.4 + 7 1298 c.1205G>A c.(1204-1206)gGa>gAa p.G402E LONP2_ENST00000535754.1_Missense_Mutation_p.G358E NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 402 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 ATTGCACTTGGAGGAGTATGT 0.453000 5 67 0 0 1 0 0 ERAL1 26284 broad.mit.edu 37 17 27185605 27185605 + Silent SNP G G A rs114192384 byFrequency TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr17:27185605G>A ENST00000254928.5 + 7 820 c.723G>A c.(721-723)ttG>ttA p.L241L NM_005702.2 NP_005693.1 O75616 ERAL1_HUMAN Era-like 12S mitochondrial rRNA chaperone 1 241 ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) TAGATTGTTTGAAGCAGAAGT 0.552000 18 132 0 0 1 0 0 CDSN 1041 broad.mit.edu 37 6 31083988 31083988 + Silent SNP A A G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr6:31083988A>G ENST00000376288.2 - 2 1430 c.1404T>C c.(1402-1404)acT>acC p.T468T PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR NM_001264.4 NP_001255 Q15517 CDSN_HUMAN corneodesmosin 468 cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 CGGGGCCCCCAGTCAGTGTCA 0.597000 4 40 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13919931 13919931 + Silent SNP G G T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:13919931G>T ENST00000254323.2 + 5 1098 c.909G>T c.(907-909)ctG>ctT p.L303L ZSWIM4_ENST00000440752.2_Silent_p.L20L NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 303 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CGCGCATGCTGATTCTCATGA 0.697000 8 63 5.4927e-09 6.01774e-09 1 1 0 AKR1E2 83592 broad.mit.edu 37 10 4879734 4879734 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr10:4879734G>C ENST00000298375.7 + 5 614 c.543G>C c.(541-543)ttG>ttC p.L181F AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Missense_Mutation_p.L181F|AKR1E2_ENST00000532248.1_Missense_Mutation_p.L181F NM_001040177.2 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 181 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 AGAGGCTTTTGAATAAGCCTG 0.527000 7 38 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194118298 194118298 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:194118298G>A ENST00000401815.1 - 1 785 c.714C>T c.(712-714)ttC>ttT p.F238F GP5_ENST00000323007.3_Silent_p.F238F P40197 GPV_HUMAN glycoprotein V (platelet) 238 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GGAGCCGGTCGAAGGCCCCGG 0.567000 28 169 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61102546 61102546 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr13:61102546C>T ENST00000196169.3 + 11 1696 c.908C>T c.(907-909)tCa>tTa p.S303L TDRD3_ENST00000377881.2_Missense_Mutation_p.S303L|TDRD3_ENST00000377894.2_Missense_Mutation_p.S303L|TDRD3_ENST00000535286.1_Missense_Mutation_p.S396L NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 303 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CAATACAGATCATCAAATACT 0.373000 9 81 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272733 1272733 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr11:1272733C>G ENST00000447027.1 + 31 14690 c.14632C>G c.(14632-14634)Cac>Gac p.H4878D MUC5B_ENST00000529681.1_Missense_Mutation_p.H4875D Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4875 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGAACAGCTCACACCCCCAA 0.657000 5 49 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65359467 65359467 + Nonsense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr11:65359467C>T ENST00000309295.4 + 18 4643 c.4378C>T c.(4378-4380)Cag>Tag p.Q1460* EHBP1L1_ENST00000529596.1_Intron|EHBP1L1_ENST00000533364.1_Nonsense_Mutation_p.Q65*|AP001362.1_ENST00000597463.1_Intron NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 1460 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 AACGTCCGCTCAGCAGCACCG 0.652000 9 76 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116520170 116520170 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:116520170C>T ENST00000410059.1 + 12 1577 c.1097C>T c.(1096-1098)aCg>aTg p.T366M DPP10_ENST00000409163.1_Missense_Mutation_p.T316M|DPP10_ENST00000310323.8_Missense_Mutation_p.T359M|DPP10_ENST00000393147.2_Missense_Mutation_p.T370M NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 366 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ACATCAGATACGTGGCTCTCT 0.353000 9 62 0 0 1 0 0 PRSS50 29122 broad.mit.edu 37 3 46757143 46757143 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:46757143C>T ENST00000460241.1 - 8 2022 c.352G>A c.(352-354)Gaa>Aaa p.E118K PRSS50_ENST00000315170.7_Missense_Mutation_p.E118K Q9UI38 TSP50_HUMAN protease, serine, 50 118 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 GCCACGGCTTCTGGGTCCCTG 0.627000 4 16 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43109248 43109248 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr15:43109248G>A ENST00000267890.6 - 7 693 c.585C>T c.(583-585)atC>atT p.I195I TTBK2_ENST00000567274.1_Silent_p.I160I|TTBK2_ENST00000567840.1_Silent_p.I195I NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 195 Protein kinase. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GATGTGCGTTGATTGATGCAT 0.368000 6 28 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96829101 96829101 + Nonsense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr10:96829101C>T ENST00000371270.3 - 1 153 c.59G>A c.(58-60)tGg>tAg p.W20* CYP2C8_ENST00000535898.1_5'UTR|CYP2C8_ENST00000539050.1_5'UTR NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 20 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCTCTGTCTCCAGAGTGAAAA 0.448000 4 32 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100076755 100076755 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr9:100076755C>T ENST00000375202.2 + 20 2024 c.672C>T c.(670-672)ctC>ctT p.L224L CCDC180_ENST00000529487.1_Silent_p.L224L|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Silent_p.L363L|CCDC180_ENST00000357054.1_Silent_p.L363L|CCDC180_ENST00000411667.2_Silent_p.L221L|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 TGAACCGTCTCTTCCTAAAGG 0.527000 5 56 0 0 1 0 0 KREMEN1 83999 broad.mit.edu 37 22 29533567 29533567 + Missense_Mutation SNP C C A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr22:29533567C>A ENST00000400338.2 + 6 922 c.869C>A c.(868-870)cCa>cAa p.P290Q KREMEN1_ENST00000327813.5_Missense_Mutation_p.P290Q|KREMEN1_ENST00000400335.4_Missense_Mutation_p.P290Q|KREMEN1_ENST00000407188.1_Missense_Mutation_p.P288Q Q96MU8 KREM1_HUMAN kringle containing transmembrane protein 1 288 CUB. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 AGGAGCCGCCCACCTCTGTCC 0.542000 6 33 8.12818e-05 8.65071e-05 1 1 0 CAPZA1 829 broad.mit.edu 37 1 113212635 113212635 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:113212635C>G ENST00000263168.3 + 10 1414 c.742C>G c.(742-744)Caa>Gaa p.Q248E CAPZA1_ENST00000476936.1_3'UTR NM_006135.2 NP_006126.1 P52907 CAZA1_HUMAN capping protein (actin filament) muscle Z-line, alpha 1 248 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGAAAACTATCAAACAATGTC 0.418000 7 50 0 0 1 0 0 DLX1 1745 broad.mit.edu 37 2 172952885 172952885 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:172952885G>A ENST00000361725.4 + 3 1120 c.668G>A c.(667-669)gGg>gAg p.G223E DLX1_ENST00000550686.1_3'UTR|DLX1_ENST00000341900.6_3'UTR NM_178120.4 NP_835221.2 P56177 DLX1_HUMAN distal-less homeobox 1 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) TCTTCATCCGGGAAGGGCTCA 0.627000 9 92 0 0 1 0 0 BBC3 27113 broad.mit.edu 37 19 47725137 47725137 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:47725137C>G ENST00000439096.2 - 4 784 c.504G>C c.(502-504)tgG>tgC p.W168C BBC3_ENST00000449228.1_Missense_Mutation_p.E203Q|BBC3_ENST00000341983.4_Missense_Mutation_p.W106C|BBC3_ENST00000300880.7_Missense_Mutation_p.E43Q NM_014417.4 NP_055232.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 168 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) ACAGGACCCTCCAGGGTGAGG 0.622000 6 27 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46600948 46600948 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr12:46600948C>G ENST00000398637.5 - 8 1247 c.553G>C c.(553-555)Gag>Cag p.E185Q SLC38A1_ENST00000549049.1_Missense_Mutation_p.E185Q|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E185Q|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E185Q|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E185Q NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 185 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) GAAAATGTCTCTTCCTTTCCC 0.308000 5 22 0 0 1 0 0 MS4A5 64232 broad.mit.edu 37 11 60201334 60201334 + Missense_Mutation SNP A A G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr11:60201334A>G ENST00000300190.2 + 4 522 c.436A>G c.(436-438)Att>Gtt p.I146V MS4A5_ENST00000534071.1_3'UTR NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 146 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 TCAAAACTACATTTGTGGTTA 0.368000 12 53 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124036416 124036416 + Silent SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr10:124036416G>C ENST00000368994.2 + 3 383 c.132G>C c.(130-132)ctG>ctC p.L44L BTBD16_ENST00000260723.4_Silent_p.L43L Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 43 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) GCAAGGCTCTGAGCATAGACT 0.562000 6 36 0 0 1 0 0 THUMPD1 55623 broad.mit.edu 37 16 20749188 20749188 + Nonsense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr16:20749188G>C ENST00000381337.2 - 3 841 c.497C>G c.(496-498)tCa>tGa p.S166* THUMPD1_ENST00000431224.2_Nonsense_Mutation_p.S252*|THUMPD1_ENST00000396083.2_Nonsense_Mutation_p.S166* NM_017736.3 NP_060206.2 Q9NXG2 THUM1_HUMAN THUMP domain containing 1 166 THUMP. NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1) 12 GCATGTGCCTGAGATGGGTAA 0.363000 8 43 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5805041 5805041 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr9:5805041G>A ENST00000339450.5 - 10 1989 c.1900C>T c.(1900-1902)Ctc>Ttc p.L634F ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000543230.1_Missense_Mutation_p.L212F NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 634 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) TAGGACGAGAGAATCATTGTA 0.363000 8 28 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27004760 27004760 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr17:27004760G>A ENST00000314616.6 + 8 1208 c.925G>A c.(925-927)Gaa>Aaa p.E309K SUPT6H_ENST00000347486.4_Missense_Mutation_p.E309K NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 309 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CAAGGGGGCTGAAGATGATGA 0.443000 9 132 0 0 1 0 0 GTF3A 2971 broad.mit.edu 37 13 28009278 28009278 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr13:28009278C>T ENST00000381140.4 + 8 1076 c.882C>T c.(880-882)ctC>ctT p.L294L GTF3A_ENST00000470606.1_3'UTR NM_002097.2 NP_002088 Q92664 TF3A_HUMAN general transcription factor IIIA 294 regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter nucleoplasm DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|lung(1) 2 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158) AGCAAAGTCTCACTAGGCATG 0.343000 5 38 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306151 2306151 + Nonsense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr4:2306151G>C ENST00000290974.2 - 8 2255 c.1916C>G c.(1915-1917)tCa>tGa p.S639* RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.S609*|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.S569* NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 639 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CTGGGAACCTGAGGTGTGAGG 0.667000 8 110 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75078530 75078530 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr14:75078530C>T ENST00000261978.4 - 1 504 c.118G>A c.(118-120)Gta>Ata p.V40I LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.V40I NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 40 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TATCTCCCTACGGGGTCCCTT 0.706000 6 21 0 0 1 0 0 CALHM1 255022 broad.mit.edu 37 10 105215487 105215487 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr10:105215487G>A ENST00000329905.5 - 2 709 c.573C>T c.(571-573)ttC>ttT p.F191F RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 191 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 TCAGCAGCACGAAGGACCAGC 0.607000 4 39 0 0 1 0 0 SEC61A1 29927 broad.mit.edu 37 3 127786858 127786858 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:127786858G>A ENST00000243253.3 + 11 1384 c.1200G>A c.(1198-1200)gtG>gtA p.V400V SEC61A1_ENST00000464451.1_Silent_p.V406V|SEC61A1_ENST00000424880.2_Silent_p.V280V|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 400 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 AGCAGATGGTGATGAGAGGCC 0.557000 OREG0015775 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 72 0 0 1 0 0 ATG9A 79065 broad.mit.edu 37 2 220087388 220087388 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:220087388C>T ENST00000409618.1 - 11 2266 c.1827G>A c.(1825-1827)caG>caA p.Q609Q ATG9A_ENST00000409422.1_Silent_p.Q548Q|ATG9A_ENST00000361242.4_Silent_p.Q609Q|ATG9A_ENST00000396761.2_Silent_p.Q609Q Q7Z3C6 ATG9A_HUMAN autophagy related 9A 609 autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATTGTAAGGACTGGATAGACG 0.577000 32 197 0 0 1 0 0 TRIM7 81786 broad.mit.edu 37 5 180622175 180622175 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr5:180622175G>C ENST00000393315.1 - 7 1600 c.903C>G c.(901-903)atC>atG p.I301M TRIM7_ENST00000274773.7_Missense_Mutation_p.I509M|TRIM7_ENST00000361809.3_Missense_Mutation_p.I301M|TRIM7_ENST00000393319.3_Missense_Mutation_p.I327M|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000422067.2_Missense_Mutation_p.I301M NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 509 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CTCAAGGCCAGATTCGCAAGT 0.632000 4 31 0 0 1 0 0 OSR1 130497 broad.mit.edu 37 2 19553061 19553061 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:19553061G>A ENST00000536433.1 - 1 3616 c.506C>T c.(505-507)tCc>tTc p.S169F OSR1_ENST00000272223.2_Missense_Mutation_p.S169F Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 169 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) CTTGGTCTTGGAAGGCAGACG 0.617000 16 61 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 336616 336616 + Silent SNP C C A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr9:336616C>A ENST00000432829.2 + 12 1432 c.1116C>A c.(1114-1116)gcC>gcA p.A372A DOCK8_ENST00000453981.1_Silent_p.A440A|DOCK8_ENST00000469391.1_Silent_p.A372A NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 440 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GGACATTGGCCCAATCTAGAA 0.448000 7 22 2.0095e-06 2.16967e-06 1 1 0 HAX1 10456 broad.mit.edu 37 1 154246432 154246432 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:154246432C>G ENST00000328703.7 + 3 712 c.499C>G c.(499-501)Cat>Gat p.H167D HAX1_ENST00000483970.2_Missense_Mutation_p.H175D|HAX1_ENST00000457918.2_Missense_Mutation_p.H119D|HAX1_ENST00000532105.1_Missense_Mutation_p.H39D NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 167 Involved in HCLS1 binding. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GAGGCCATTTCATAGGGTGAG 0.542000 Kostmann syndrome 7 62 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79383369 79383369 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:79383369C>T ENST00000370742.3 - 12 1762 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 567 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AAGTTGTTTTCGGTGCTAAGC 0.279000 3 10 0 0 1 0 0 TUSC5 286753 broad.mit.edu 37 17 1183553 1183553 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr17:1183553G>A ENST00000333813.3 + 1 597 c.258G>A c.(256-258)gcG>gcA p.A86A NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 86 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CAAGGAGGGCGTCCTCCATCG 0.667000 14 61 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169484782 169484782 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:169484782G>C ENST00000367796.3 - 24 6644 c.6443C>G c.(6442-6444)tCt>tGt p.S2148C F5_ENST00000367797.3_Missense_Mutation_p.S2143C P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2143 F5/8 type C 2. M -> T (in dbSNP:rs9332701). cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.S2143F(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGAGGACAGAGACTTGCAGCC 0.413000 11 56 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187692864 187692864 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:187692864C>G ENST00000295131.2 - 9 1788 c.1749G>C c.(1747-1749)tgG>tgC p.W583C NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 583 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TAGCTGTGCTCCAATTGACAA 0.378000 5 23 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103340046 103340046 + Missense_Mutation SNP G G T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr8:103340046G>T ENST00000520539.1 - 12 2011 c.1405C>A c.(1405-1407)Caa>Aaa p.Q469K UBR5_ENST00000521922.1_Missense_Mutation_p.Q463K|UBR5_ENST00000220959.4_Missense_Mutation_p.Q469K NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 469 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CGCTCTCCTTGAAGTTCAGAG 0.408000 16 41 1.5739e-10 1.73712e-10 1 1 0 UTP14C 9724 broad.mit.edu 37 13 52604242 52604242 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr13:52604242C>T ENST00000521776.2 + 2 2035 c.1302C>T c.(1300-1302)ctC>ctT p.L434L NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 434 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) GATCTGAGCTCAACCAGGATG 0.448000 7 45 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89424266 89424266 + RNA SNP A A G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr11:89424266A>G ENST00000532352.1 + 0 1729 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 AATCTACAATATTTCTATGAA 0.353000 8 60 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116417769 116417769 + Missense_Mutation SNP C C A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr10:116417769C>A ENST00000277895.5 - 1 288 c.191G>T c.(190-192)tGt>tTt p.C64F ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000533213.2_Intron NM_002313.5 NP_002304.3 O14639 ABLM1_HUMAN actin binding LIM protein 1 64 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GTCCTTGGGACAGAGATACAG 0.493000 5 49 0.184627 0.185875 1 1 0 FNDC1 84624 broad.mit.edu 37 6 159653935 159653935 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr6:159653935C>T ENST00000297267.9 + 11 2591 c.2391C>T c.(2389-2391)ggC>ggT p.G797G FNDC1_ENST00000340366.6_Silent_p.G734G NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 797 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGGAAGACGGCGGAAGGCAGG 0.637000 3 15 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159779996 159779996 + Missense_Mutation SNP G G T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:159779996G>T ENST00000321935.6 + 7 1106 c.1020G>T c.(1018-1020)tgG>tgT p.W340C FCRL6_ENST00000368106.3_Missense_Mutation_p.W333C|FCRL6_ENST00000339348.5_Missense_Mutation_p.W333C|FCRL6_ENST00000392235.3_Missense_Mutation_p.W238C NM_001284217.1 NP_001271146.1 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 333 integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) TGAGATCCTGGAGAAAAGCTG 0.547000 7 62 0.00307968 0.0032089 1 1 0 FAM179B 23116 broad.mit.edu 37 14 45523713 45523713 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr14:45523713C>T ENST00000361462.2 + 16 4703 c.4520C>T c.(4519-4521)tCa>tTa p.S1507L FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.S1454L Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1454 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AATACAAGATCATCATCTGTT 0.373000 8 34 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51488289 51488289 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chrX:51488289G>C ENST00000340438.4 + 1 1809 c.1567G>C c.(1567-1569)Gat>Cat p.D523H NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 523 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) ACGCACGTTTGATGTTCAGAT 0.408000 7 43 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60351457 60351457 + Silent SNP G G A rs4968502 by1000genomes TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr17:60351457G>A ENST00000602932.1 - 2 234 c.204C>T c.(202-204)cgC>cgT p.R68R TBC1D3P2_ENST00000581291.1_RNA CCAACTACCCGCGACCTCTAC 0.537000 19 256 0 0 1 0 0 APH1A 51107 broad.mit.edu 37 1 150238948 150238948 + Nonsense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:150238948G>A ENST00000360244.4 - 6 1210 c.718C>T c.(718-720)Cag>Tag p.Q240* APH1A_ENST00000414276.2_Nonsense_Mutation_p.Q170*|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Nonsense_Mutation_p.Q240* NM_016022.3 NP_057106.2 Q96BI3 APH1A_HUMAN APH1A gamma secretase subunit 240 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGGCTGCGCTGAATACTTCGG 0.607000 5 46 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15599842 15599842 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr7:15599842G>C ENST00000342526.3 - 2 350 c.181C>G c.(181-183)Ctc>Gtc p.L61V NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 61 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TTTCCTTTGAGAATCCAGCTG 0.438000 4 30 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7293876 7293876 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr12:7293876C>T ENST00000537408.1 + 8 1936 c.1398C>T c.(1396-1398)ctC>ctT p.L466L CLSTN3_ENST00000266546.6_Silent_p.L454L Q9BQT9 CSTN3_HUMAN calsyntenin 3 454 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CTCTGAACCTCGAGTTCCCCA 0.567000 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 175 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154308191 154308191 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr5:154308191C>T ENST00000285873.7 - 6 885 c.810G>A c.(808-810)ctG>ctA p.L270L NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 270 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTCTTCTCTTCAGAAAGGGCA 0.473000 10 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179605187 179605187 + Missense_Mutation SNP T T C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:179605187T>C ENST00000589042.1 - 48 12997 c.12773A>G c.(12772-12774)cAa>cGa p.Q4258R TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q4087R|TTN_ENST00000591111.1_Missense_Mutation_p.Q3941R|TTN_ENST00000359218.5_Missense_Mutation_p.Q4020R|TTN_ENST00000460472.2_Missense_Mutation_p.Q3895R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3941 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGCGCACTTTGTGCCTCTTG 0.468000 3 16 0 0 1 0 0 C7orf26 79034 broad.mit.edu 37 7 6631278 6631278 + Splice_Site SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr7:6631278G>C ENST00000344417.5 + 2 461 c.194G>C c.(193-195)aGa>aCa p.R65T C7orf26_ENST00000359073.5_Intron NM_024067.2 NP_076972.2 Q96N11 CG026_HUMAN chromosome 7 open reading frame 26 65 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) CTTTTGCAGAGACTGAATTCC 0.408000 5 70 0 0 1 0 0 PPM1J 333926 broad.mit.edu 37 1 113252905 113252905 + Silent SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:113252905G>C ENST00000464951.1 - 11 2188 c.780C>G c.(778-780)gtC>gtG p.V260V PPM1J_ENST00000359994.4_Silent_p.V260V|PPM1J_ENST00000309276.6_Silent_p.V466V|RP11-426L16.10_ENST00000606505.1_Intron|RP11-426L16.10_ENST00000471038.2_Intron Q5JR12 PPM1J_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1J 466 PP2C-like. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGCCCCCAGGACCAGAGCTT 0.597000 7 60 0 0 1 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572042 186572042 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:186572042C>T ENST00000412955.2 + 3 425 c.284C>T c.(283-285)cCg>cTg p.P95L ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.P95L|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.P95L Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 95 Collagen-like. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) CGAGGCTTTCCGGGAATCCAA 0.517000 6 47 0 0 1 0 0 ANP32E 81611 broad.mit.edu 37 1 150204216 150204216 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:150204216C>G ENST00000314136.8 - 2 472 c.103G>C c.(103-105)Gaa>Caa p.E35Q ANP32E_ENST00000436748.2_Missense_Mutation_p.E35Q|ANP32E_ENST00000369114.5_Missense_Mutation_p.E35Q|ANP32E_ENST00000369119.3_5'UTR|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000533654.1_Missense_Mutation_p.E35Q NM_001136478.2|NM_001280559.1|NM_030920.3 NP_001129950.1|NP_001267488.1|NP_112182.1 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 35 cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1) 15 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TTCAGGCCTTCAATTTCCCCA 0.378000 8 44 0 0 1 0 0 CWC22 57703 broad.mit.edu 37 2 180818987 180818987 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:180818987C>T ENST00000410053.3 - 16 1933 c.1634G>A c.(1633-1635)cGa>cAa p.R545Q CWC22_ENST00000295749.6_Missense_Mutation_p.R545Q NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 545 MI. catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 AGCAACATTTCGCAACTTGTT 0.368000 3 13 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237946988 237946988 + Missense_Mutation SNP T T A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:237946988T>A ENST00000366574.2 + 90 12293 c.11976T>A c.(11974-11976)aaT>aaA p.N3992K RYR2_ENST00000542537.1_Missense_Mutation_p.N3976K|RYR2_ENST00000360064.6_Missense_Mutation_p.N3998K|RYR2_ENST00000609119.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3992 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGTTGTTAATGGAACGATTG 0.323000 4 8 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81574897 81574897 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr14:81574897G>C ENST00000554435.1 + 9 723 c.697G>C c.(697-699)Gaa>Caa p.E233Q TSHR_ENST00000554263.1_3'UTR|TSHR_ENST00000342443.6_Intron|RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000541158.2_Intron|TSHR_ENST00000298171.2_Intron P16473 TSHR_HUMAN thyroid stimulating hormone receptor 237 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TTCAAGGGTAGAAAATGTTGC 0.368000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 7 32 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662755 99662755 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chrX:99662755C>T ENST00000373034.4 - 1 2516 c.841G>A c.(841-843)Gtc>Atc p.V281I PCDH19_ENST00000420881.2_Missense_Mutation_p.V281I|PCDH19_ENST00000255531.7_Missense_Mutation_p.V281I NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 281 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CGGTCGTTGACGTAGCCATAG 0.602000 8 65 0 0 1 0 0 ELF1 1997 broad.mit.edu 37 13 41533090 41533090 + Silent SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr13:41533090G>C ENST00000239882.3 - 3 449 c.135C>G c.(133-135)ctC>ctG p.L45L ELF1_ENST00000442101.1_Silent_p.L45L|ELF1_ENST00000498824.1_5'UTR NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 45 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CATAACTATTGAGAATATCAG 0.438000 12 42 0 0 1 0 0 PUS3 83480 broad.mit.edu 37 11 125763945 125763945 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr11:125763945G>A ENST00000227474.3 - 4 1278 c.1181C>T c.(1180-1182)tCt>tTt p.S394F HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.S394F|HYLS1_ENST00000356438.3_Intron NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 394 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) CTTTATGACAGAGGGCTTAAC 0.473000 5 56 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 114986147 114986147 + Nonsense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr9:114986147G>C ENST00000334318.6 - 15 1838 c.1652C>G c.(1651-1653)tCa>tGa p.S551* PTBP3_ENST00000343327.2_Nonsense_Mutation_p.S453*|PTBP3_ENST00000374255.2_Nonsense_Mutation_p.S548*|PTBP3_ENST00000374257.1_Nonsense_Mutation_p.S520*|PTBP3_ENST00000458258.1_Nonsense_Mutation_p.S554* NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 548 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding TGTAGATTTTGAGAAGGAAAC 0.403000 20 66 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202407109 202407109 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:202407109C>T ENST00000608999.1 + 10 1568 c.1415C>T c.(1414-1416)tCt>tTt p.S472F PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S472F|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.S472F NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TATCGCTCCTCTTCAAGCCCT 0.478000 10 79 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65271870 65271870 + RNA SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr11:65271870G>C ENST00000534336.1 + 0 6638 NR_002819.2 GTACTGTTCTGATCCCGCTGC 0.388000 4 18 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203681195 203681195 + Silent SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:203681195G>C ENST00000357681.5 + 13 3262 c.2139G>C c.(2137-2139)ctG>ctC p.L713L ATP2B4_ENST00000341360.2_Silent_p.L713L|ATP2B4_ENST00000367218.3_Silent_p.L713L|ATP2B4_ENST00000367219.3_Silent_p.L701L|ATP2B4_ENST00000391954.2_Silent_p.L713L NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 713 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GTGGCATTCTGACACCTGGGG 0.527000 11 62 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566291 155566291 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:155566291C>T ENST00000295101.2 + 2 1356 c.879C>T c.(877-879)ttC>ttT p.F293F KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 293 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CTGAACAGTTCGAGATTGTCG 0.403000 4 45 0 0 1 0 0 POC1A 25886 broad.mit.edu 37 3 52183972 52183972 + Silent SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:52183972G>C ENST00000394970.2 - 3 452 c.135C>G c.(133-135)gtC>gtG p.V45V POC1A_ENST00000296484.2_Silent_p.V45V|POC1A_ENST00000474012.1_Silent_p.V7V NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 45 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 TCATGTGCCAGACCATGAGGC 0.572000 5 54 0 0 1 0 0 RHCE 6006 broad.mit.edu 37 1 25717408 25717408 + Splice_Site SNP T T C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:25717408T>C ENST00000349320.3 - 7 975 c.e7-2 RHCE_ENST00000243186.6_Splice_Site|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Splice_Site|RHCE_ENST00000425135.1_Splice_Site|RHCE_ENST00000294413.7_Splice_Site|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000374352.2_Splice_Site|RHCE_ENST00000413854.1_Splice_Site P18577 RHCE_HUMAN Rh blood group, CcEe antigens integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) AGAGGGCGCCTGGGGGCCAGA 0.542000 7 87 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144889733 144889733 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr8:144889733C>G ENST00000356994.2 - 16 2173 c.2167G>C c.(2167-2169)Gag>Cag p.E723Q SCRIB_ENST00000320476.3_Missense_Mutation_p.E723Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.E642Q NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 723 Interaction with ARHGEF7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TCTTCCTCCTCAATGCGAGCA 0.627000 27 71 0 0 1 0 0 SLC25A24 29957 broad.mit.edu 37 1 108742638 108742638 + Silent SNP G G T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:108742638G>T ENST00000565488.1 - 1 342 c.123C>A c.(121-123)atC>atA p.I41I RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Silent_p.I41I NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 41 EF-hand 1. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) GCAGCTCGCCGATGTCCACCA 0.726000 6 13 0.0381472 0.0389311 1 1 0 CCDC141 285025 broad.mit.edu 37 2 179730590 179730590 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:179730590C>T ENST00000420890.2 - 17 2745 c.2628G>A c.(2626-2628)gaG>gaA p.E876E CCDC141_ENST00000295723.5_Silent_p.E301E NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 301 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TGCTGTCCTCCTCAAGGAGCT 0.507000 20 125 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43762600 43762600 + Missense_Mutation SNP C C A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:43762600C>A ENST00000244293.7 - 4 784 c.718G>T c.(718-720)Gac>Tac p.D240Y PSG9_ENST00000593948.1_Missense_Mutation_p.D240Y|PSG9_ENST00000443718.3_Missense_Mutation_p.D240Y|PSG9_ENST00000418820.2_Missense_Mutation_p.D240Y|PSG9_ENST00000291752.5_Missense_Mutation_p.D147Y|PSG9_ENST00000270077.3_Missense_Mutation_p.D333Y|PSG9_ENST00000596730.1_Missense_Mutation_p.D147Y Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 238 female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CTGGGGAGGTCTGGACCATCT 0.493000 29 123 3.21399e-22 3.57377e-22 1 1 0 OSBPL5 114879 broad.mit.edu 37 11 3141765 3141765 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr11:3141765C>T ENST00000263650.7 - 6 651 c.492G>A c.(490-492)caG>caA p.Q164Q OSBPL5_ENST00000389989.3_Intron|OSBPL5_ENST00000525498.1_Intron|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Intron NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 164 PH. cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGCCCACCCACTGGCCCACCT 0.647000 11 79 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137654926 137654926 + Silent SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr5:137654926C>T ENST00000323760.6 - 7 875 c.597G>A c.(595-597)ctG>ctA p.L199L CDC25C_ENST00000356505.3_Silent_p.L169L|CDC25C_ENST00000514555.1_Silent_p.L169L|CDC25C_ENST00000357274.3_Silent_p.L156L|CDC25C_ENST00000348983.3_Silent_p.L126L|CDC25C_ENST00000415130.2_Silent_p.L126L|CDC25C_ENST00000513970.1_Silent_p.L199L NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 199 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CTTGATCTTTCAGGGAAAACT 0.353000 6 38 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31665270 31665270 + Missense_Mutation SNP G G T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:31665270G>T ENST00000295770.2 + 11 1853 c.1644G>T c.(1642-1644)atG>atT p.M548I NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 548 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 TGCTATTGATGATGTTTGCTG 0.423000 6 49 0.00116845 0.00123474 1 1 0 TOX 9760 broad.mit.edu 37 8 60031503 60031503 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr8:60031503G>A ENST00000361421.1 - 1 264 c.44C>T c.(43-45)gCg>gTg p.A15V NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 15 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) AGCGTCGGGCGCAGCGGCGGG 0.498000 10 46 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52917885 52917885 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr4:52917885G>A ENST00000295213.4 + 1 389 c.15G>A c.(13-15)ctG>ctA p.L5L SPATA18_ENST00000419395.2_Silent_p.L5L|SPATA18_ENST00000506829.1_3'UTR NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 5 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) CGGAAAACCTGAAAAGACTGG 0.567000 20 118 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78293187 78293187 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr17:78293187G>A ENST00000319921.4 + 17 3240 c.3099G>A c.(3097-3099)atG>atA p.M1033I RNF213_ENST00000508628.2_Intron|RNF213_ENST00000582970.1_Intron|RNF213_ENST00000456466.1_Intron NM_020954.3 NP_066005.2 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TAAGGGCTATGAAGCACCCGC 0.577000 8 63 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12430445 12430445 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:12430445C>T ENST00000293725.5 - 4 599 c.394G>A c.(394-396)Gag>Aag p.E132K ZNF563_ENST00000595977.1_Missense_Mutation_p.E132K NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TCCTGATACTCATGTGGTTTG 0.453000 13 88 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218712347 218712347 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:218712347G>A ENST00000171887.4 - 17 2970 c.2518C>T c.(2518-2520)Cct>Tct p.P840S TNS1_ENST00000419504.1_Missense_Mutation_p.P840S|TNS1_ENST00000430930.1_Missense_Mutation_p.P840S NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 840 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GTGAGGCCAGGGAGAGAGGCT 0.607000 7 60 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7755183 7755183 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr10:7755183G>C ENST00000358415.4 + 5 568 c.402G>C c.(400-402)gaG>gaC p.E134D ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.E123D NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 134 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CTATTAAGGAGAAAACTGTGG 0.483000 4 41 0 0 1 0 0 ZNF398 57541 broad.mit.edu 37 7 148876736 148876736 + Missense_Mutation SNP A A G rs116863926 TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr7:148876736A>G ENST00000420008.2 + 6 2047 c.1259A>G c.(1258-1260)aAt>aGt p.N420S ZNF398_ENST00000426851.2_Missense_Mutation_p.N420S|ZNF398_ENST00000540950.1_Missense_Mutation_p.N596S|ZNF398_ENST00000475153.1_Missense_Mutation_p.N591S|ZNF398_ENST00000335901.4_Missense_Mutation_p.N420S|ZNF398_ENST00000483892.1_Missense_Mutation_p.N420S|ZNF398_ENST00000491174.1_Missense_Mutation_p.N420S NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) TCAGGCCACAATGGAGGCTGT 0.602000 10 64 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240078424 240078424 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:240078424G>A ENST00000345617.3 - 7 1448 c.657C>T c.(655-657)agC>agT p.S219S HDAC4_ENST00000541256.1_Silent_p.S188S NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 219 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TCGACACTCCGCTCTGGGGTG 0.557000 11 49 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5733206 5733206 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr4:5733206G>A ENST00000382674.2 + 4 623 c.439G>A c.(439-441)Gtt>Att p.V147I EVC_ENST00000264956.6_Missense_Mutation_p.V147I|EVC_ENST00000509451.1_Missense_Mutation_p.V147I P57679 EVC_HUMAN Ellis van Creveld syndrome 147 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) AAAGCAGGCTGTTTTGCCACA 0.597000 11 81 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150801570 150801570 + Splice_Site SNP T T C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr1:150801570T>C ENST00000358595.5 - 12 1366 c.1166A>G c.(1165-1167)cAg>cGg p.Q389R ARNT_ENST00000505755.1_Splice_Site_p.Q374R|ARNT_ENST00000515192.1_Splice_Site_p.Q375R|ARNT_ENST00000354396.2_Splice_Site_p.Q389R NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 389 PAS 2. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GCTCCTCACCTGTGGCTGGTA 0.453000 T ETV6 AML 12 42 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51992348 51992348 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr3:51992348G>C ENST00000461554.1 - 14 1272 c.941C>G c.(940-942)tCt>tGt p.S314C PCBP4_ENST00000322099.7_Missense_Mutation_p.S314C|PCBP4_ENST00000428823.2_Missense_Mutation_p.S271C|PCBP4_ENST00000355852.2_Missense_Mutation_p.S314C|PCBP4_ENST00000395013.3_Missense_Mutation_p.S154C|PCBP4_ENST00000484633.1_Missense_Mutation_p.S271C|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000395014.2_Missense_Mutation_p.S335C NM_001174100.1 NP_001167571.1 P57723 PCBP4_HUMAN poly(rC) binding protein 4 314 cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCCAGAGGTAGACTTGGCCGT 0.652000 3 10 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32842873 32842873 + Nonsense_Mutation SNP G G T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr2:32842873G>T ENST00000421745.2 + 74 14610 c.14476G>T c.(14476-14478)Gag>Tag p.E4826* NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4826 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CGATGCCCCAGAGGTGTGCAG 0.537000 5 27 0.014758 0.0151651 1 1 0 CSPG4 1464 broad.mit.edu 37 15 75981700 75981700 + Missense_Mutation SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr15:75981700G>A ENST00000308508.5 - 3 1798 c.1706C>T c.(1705-1707)aCg>aTg p.T569M NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 569 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CGGCTTCTGCGTGTGTTCCAG 0.612000 4 28 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102750291 102750291 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr10:102750291C>T ENST00000370228.1 + 3 1768 c.1583C>T c.(1582-1584)tCc>tTc p.S528F C10orf2_ENST00000311916.2_Missense_Mutation_p.S528F|C10orf2_ENST00000473656.1_3'UTR NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 528 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GAGCAGCTGTCCACAGACAGG 0.498000 11 69 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43075741 43075743 + In_Frame_Del DEL CCA CCA - TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr15:43075741_43075743delCCA ENST00000267890.6 - 11 1179_1181 c.1071_1073delTGG c.(1069-1074)aatggc>aac p.G358del TTBK2_ENST00000567274.1_In_Frame_Del_p.G323del|TTBK2_ENST00000567840.1_In_Frame_Del_p.G358del NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 358 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AACAGGGATGCCATTTTCTCCAT 0.473 8 253 --- --- --- --- EBI3 10148 broad.mit.edu 37 19 4237029 4237029 + Frame_Shift_Del DEL G G - TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a9bf4ef-30c2-467a-ae63-bc25ea881c59 939a9556-0a03-4f74-a07c-dcf4fa99671c g.chr19:4237029delG ENST00000221847.5 + 5 687 c.634delG c.(634-636)gggfs p.G212fs NM_005755.2 NP_005746.2 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 212 Fibronectin type-III 2. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) CACAGACTACGGGGAACTGAG 0.637 8 44 --- --- --- ---