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 SORL1 6653 broad.mit.edu 37 11 121340814 121340814 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:121340814G>A ENST00000260197.7 + 2 513 c.384G>A c.(382-384)gcG>gcA p.A128A SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 128 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGGCATTGGCGAGGCCCAAGA 0.522000 23 69 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138208467 138208467 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:138208467C>T ENST00000409968.1 + 15 3190 c.3012C>T c.(3010-3012)agC>agT p.S1004S THSD7B_ENST00000272643.3_Silent_p.S1004S|THSD7B_ENST00000413152.2_Silent_p.S973S|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCAAGTTAAGCGATTGGTCTA 0.383000 17 23 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317460 30317460 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr10:30317460T>C ENST00000375377.1 - 3 1718 c.1617A>G c.(1615-1617)agA>agG p.R539R NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 539 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AGGAAACTTGTCTTCCAGTGT 0.552000 50 58 0 0 1 0 0 SDC2 6383 broad.mit.edu 37 8 97621651 97621651 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:97621651A>G ENST00000302190.4 + 5 1402 c.481A>G c.(481-483)Att>Gtt p.I161V SDC2_ENST00000518385.1_Missense_Mutation_p.I125V|SDC2_ENST00000519914.1_Missense_Mutation_p.I132V|SDC2_ENST00000522911.1_Missense_Mutation_p.I132V NM_002998.3 NP_002989.2 P34741 SDC2_HUMAN syndecan 2 161 integral to plasma membrane cytoskeletal protein binding|PDZ domain binding breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2) 16 Breast(36;3.41e-05) Sargramostim(DB00020) TCTCTTTGCAATTTTTCTTAT 0.418000 55 77 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:7577099C>G ENST00000420246.2 - 8 971 c.839G>C c.(838-840)aGa>aCa p.R280T TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCGGTCTCTCCCAGGACA 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 6 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41257379 41257379 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:41257379G>A ENST00000243563.3 + 1 616 c.66G>A c.(64-66)aaG>aaA p.K22K SNRPA_ENST00000599570.1_3'UTR NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 22 RRM 1. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGAAGATCAAGAAGGATGGTG 0.522000 59 24 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28586890 28586890 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr18:28586890C>T ENST00000434452.1 - 12 2025 c.1871G>A c.(1870-1872)aGc>aAc p.S624N DSC3_ENST00000360428.4_Missense_Mutation_p.S624N NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 624 Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TTTGGTGAGGCTCCACAGTCT 0.348000 8 19 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44918692 44918692 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr15:44918692C>T ENST00000261866.7 - 11 2097 c.2081G>A c.(2080-2082)aGc>aAc p.S694N SPG11_ENST00000558319.1_Missense_Mutation_p.S694N|SPG11_ENST00000535302.2_Missense_Mutation_p.S694N|SPG11_ENST00000559193.1_Missense_Mutation_p.S694N|SPG11_ENST00000427534.2_Missense_Mutation_p.S694N NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 694 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TAAAATGGCGCTGGCAATAAC 0.338000 27 28 0 0 1 0 0 MED4 29079 broad.mit.edu 37 13 48669145 48669145 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr13:48669145T>C ENST00000258648.2 - 1 95 c.70A>G c.(70-72)Aac>Gac p.N24D MED4_ENST00000378586.1_Intron NM_014166.3 NP_054885.1 Q9NPJ6 MED4_HUMAN mediator complex subunit 4 24 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;5.18e-07) CGTGTGCTGTTACCACCCGCC 0.662000 OREG0022406 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 2 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67223676 67223676 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:67223676C>T ENST00000438189.2 + 3 413 c.69C>T c.(67-69)ccC>ccT p.P23P CABP4_ENST00000325656.5_Silent_p.P128P P57796 CABP4_HUMAN calcium binding protein 4 128 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) AACTGGGCCCCGAGGAGCTAG 0.657000 34 38 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75843688 75843688 + Silent SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:75843688C>G ENST00000322507.8 - 33 5859 c.5550G>C c.(5548-5550)ctG>ctC p.L1850L COL12A1_ENST00000345356.6_Silent_p.L686L|COL12A1_ENST00000416123.2_Silent_p.L1850L|COL12A1_ENST00000483888.2_Silent_p.L1850L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1850 Fibronectin type-III 14. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CATACACTCTCAGGTTCCTTA 0.458000 5 13 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140306726 140306726 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr5:140306726C>T ENST00000253807.2 + 1 249 c.249C>T c.(247-249)cgC>cgT p.R83R PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R83R|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCGGACCGCGAACAGCTGT 0.612000 6 21 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102047609 102047609 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr13:102047609G>A ENST00000251127.6 - 3 297 c.216C>T c.(214-216)ttC>ttT p.F72F NALCN_ENST00000376196.3_Silent_p.F72F|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.F72F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 72 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TATCCAAAGTGAAGGTCACAT 0.438000 5 39 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112699228 112699228 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:112699228T>C ENST00000550722.1 - 18 2711 c.2316A>G c.(2314-2316)ctA>ctG p.L772L HECTD4_ENST00000430131.2_Silent_p.L486L|HECTD4_ENST00000377560.5_Silent_p.L736L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TACTGACTTTTAGCTCCTAGG 0.368000 24 68 0 0 1 0 0 LRIG3 121227 broad.mit.edu 37 12 59268026 59268026 + Missense_Mutation SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:59268026G>T ENST00000320743.3 - 18 3212 c.2926C>A c.(2926-2928)Cct>Act p.P976T LRIG3_ENST00000379141.4_Missense_Mutation_p.P916T NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 976 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TCTTCTGAAGGATGAGAACAT 0.433000 T ROS1 NSCLC 47 52 1.51926e-22 1.72737e-22 1 1 0 FAM111B 374393 broad.mit.edu 37 11 58893358 58893358 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:58893358C>T ENST00000343597.3 + 4 1979 c.1788C>T c.(1786-1788)aaC>aaT p.N596N FAM111B_ENST00000411426.1_Silent_p.N566N|FAM111B_ENST00000529618.1_Silent_p.N566N NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 596 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TTCCTCTAAACGAACGATTGA 0.368000 38 46 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257413 9257413 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr18:9257413C>T ENST00000262126.4 + 9 4388 c.4148C>T c.(4147-4149)tCa>tTa p.S1383L ANKRD12_ENST00000383440.2_Missense_Mutation_p.S1360L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1360L NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AAGTATGTTTCAGCTGATAGA 0.408000 14 63 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590432 140590432 + Silent SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr5:140590432G>T ENST00000239450.2 + 1 2142 c.1953G>T c.(1951-1953)ccG>ccT p.P651P PCDHB12_ENST00000541609.1_Silent_p.P314P NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 651 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.P651P(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGAGCCTCCGCGCTCGGCCA 0.731000 21 28 7.38237e-10 8.09784e-10 1 1 0 ECH1 1891 broad.mit.edu 37 19 39321993 39321993 + Nonsense_Mutation SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:39321993G>C ENST00000594769.1 - 6 724 c.725C>G c.(724-726)tCa>tGa p.S242* ECH1_ENST00000221418.4_Silent_p.L72L|ECH1_ENST00000597805.1_Intron TGGGCCGGTTGAGCTGGACAT 0.607000 21 83 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43510517 43510517 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr21:43510517G>A ENST00000400424.2 + 6 1080 c.684G>A c.(682-684)acG>acA p.T228T UMODL1_ENST00000400427.1_Silent_p.T228T|UMODL1_ENST00000408989.2_Silent_p.T300T|UMODL1_ENST00000408910.2_Silent_p.T300T NM_001199528.2 NP_001186457 Q5DID0 UROL1_HUMAN uromodulin-like 1 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity p.T300T(1)|p.T228T(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CTCCAGCCACGTCTCCACGGA 0.552000 7 45 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28824566 28824566 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr10:28824566C>T ENST00000375664.4 + 3 628 c.19C>T c.(19-21)Cct>Tct p.P7S WAC_ENST00000347934.4_Missense_Mutation_p.P52S|WAC_ENST00000375646.1_Missense_Mutation_p.P7S|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_Missense_Mutation_p.P7S|WAC_ENST00000354911.4_Missense_Mutation_p.P52S Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 CGCCGGAGATCCTTCACCACC 0.453000 8 44 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33071779 33071779 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr9:33071779G>A ENST00000397149.3 - 3 399 c.349C>T c.(349-351)Ctg>Ttg p.L117L SMU1_ENST00000536631.1_Intron NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 117 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) AGGTTCTCCAGATGAATATAT 0.403000 12 95 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 39 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40322302 40322302 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:40322302C>T ENST00000264661.3 - 8 1545 c.1213G>A c.(1213-1215)Ggc>Agc p.G405S KCNH4_ENST00000607371.1_Missense_Mutation_p.G405S NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 405 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGACGCTTGCCCAACTCATGC 0.632000 8 10 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68525119 68525119 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:68525119T>C ENST00000265641.5 - 19 2469 c.2315A>G c.(2314-2316)aAa>aGa p.K772R CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Missense_Mutation_p.K772R|CPT1A_ENST00000376618.2_Intron NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 772 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GAATTACTTTTTGGAATTAGA 0.403000 46 31 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206365 104206365 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr14:104206365T>C ENST00000202556.9 - 12 2670 c.2388A>G c.(2386-2388)ttA>ttG p.L796L PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.L215L NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 796 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CGGGGGAAGGTAACTCATTAT 0.602000 43 6 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40101990 40101990 + Missense_Mutation SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr20:40101990G>C ENST00000373233.3 - 17 2813 c.2636C>G c.(2635-2637)tCt>tGt p.S879C CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 879 Helicase C-terminal. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GTTCCAGTCAGAATCAAATAT 0.493000 11 19 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2150177 2150177 + Silent SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:2150177C>A ENST00000262304.4 - 28 9910 c.9702G>T c.(9700-9702)gtG>gtT p.V3234V PKD1_ENST00000423118.1_Silent_p.V3234V NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3234 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCGCGGCCAGCACCTCCTTCT 0.667000 5 6 0.00116845 0.00122761 1 1 0 ANXA10 11199 broad.mit.edu 37 4 169105800 169105800 + Nonsense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr4:169105800C>T ENST00000359299.3 + 11 1060 c.874C>T c.(874-876)Cga>Tga p.R292* NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 292 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) ATACAAAGAGCGATATGGAAA 0.348000 6 99 0 0 1 0 0 TMEM106C 79022 broad.mit.edu 37 12 48359980 48359980 + Missense_Mutation SNP G G T rs115720444 by1000genomes TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:48359980G>T ENST00000429772.2 + 5 633 c.520G>T c.(520-522)Gtc>Ttc p.V174F TMEM106C_ENST00000552561.1_Missense_Mutation_p.V174F|TMEM106C_ENST00000256686.6_Intron|TMEM106C_ENST00000552546.1_Missense_Mutation_p.V103F|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000550552.1_Intron|TMEM106C_ENST00000449758.2_Intron NM_001143842.1 NP_001137314.1 Q9BVX2 T106C_HUMAN transmembrane protein 106C 174 endoplasmic reticulum membrane|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) GACTACTAACGTCTCCCTTAT 0.493000 6 37 0.0215528 0.0220849 1 1 0 NAIF1 203245 broad.mit.edu 37 9 130826118 130826118 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr9:130826118C>T ENST00000373078.4 - 2 792 c.573G>A c.(571-573)gaG>gaA p.E191E NAIF1_ENST00000488519.1_5'UTR NM_197956.3 NP_931045.1 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 191 apoptosis|induction of apoptosis nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GTGGGGGCGCCTCAGCCGTGC 0.612000 22 48 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165548251 165548251 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:165548251G>A ENST00000264381.3 - 2 737 c.571C>T c.(571-573)Cca>Tca p.P191S BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 191 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ATGTTCCCTGGAGCCTCAGGA 0.438000 47 35 0 0 1 0 0 KIR2DL4 3805 broad.mit.edu 37 19 55315377 55315377 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:55315377C>G ENST00000396284.2 + 2 66 c.66C>G c.(64-66)caC>caG p.H22Q KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Missense_Mutation_p.H24Q|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.H24Q|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.H24Q|KIR2DL4_ENST00000396293.1_Missense_Mutation_p.H24Q|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.H24Q killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TGTGGGCACACGTGGGTGAGT 0.522000 10 31 0 0 1 0 0 BCL2L11 10018 broad.mit.edu 37 2 111907666 111907666 + Nonsense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:111907666G>A ENST00000393256.3 + 3 713 c.440G>A c.(439-441)tGg>tAg p.W147* BCL2L11_ENST00000393253.2_Nonsense_Mutation_p.W57*|BCL2L11_ENST00000308659.8_Nonsense_Mutation_p.W87*|BCL2L11_ENST00000357757.2_Nonsense_Mutation_p.W147* NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3 NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1 O43521 B2L11_HUMAN BCL2-like 11 (apoptosis facilitator) 147 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 CCAGAGATATGGATCGCCCAA 0.478000 16 7 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1017207 1017207 + Missense_Mutation SNP G G A rs71472140 TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:1017207G>A ENST00000421673.2 - 31 5644 c.5594C>T c.(5593-5595)aCt>aTt p.T1865I NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1865 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAGGCAGAAGTGGCCATCTG 0.572000 48 231 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32822962 32822962 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:32822962C>T ENST00000421745.2 + 69 13891 c.13757C>T c.(13756-13758)tCa>tTa p.S4586L NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4586 Ubiquitin-conjugating. 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) GTGACGCTTTCAACCTCACTG 0.438000 6 12 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3233278 3233278 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr20:3233278C>T ENST00000252032.9 - 37 3541 c.3474G>A c.(3472-3474)gaG>gaA p.E1158E C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 1158 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 GGTTATACTTCTCAATTTCCC 0.512000 10 115 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38885056 38885056 + Silent SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:38885056A>G ENST00000359357.3 + 67 9785 c.9531A>G c.(9529-9531)gcA>gcG p.A3177A DNAH8_ENST00000449981.2_Silent_p.A3394A|DNAH8_ENST00000441566.1_Silent_p.A3141A dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGAAACTTGCAAAACCACCAC 0.333000 36 29 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142217452 142217452 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:142217452C>G ENST00000350721.4 - 32 5666 c.5545G>C c.(5545-5547)Gaa>Caa p.E1849Q ATR_ENST00000383101.3_Missense_Mutation_p.E1785Q NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1849 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.E1849K(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ACAATATATTCATATCCTCGT 0.343000 Other conserved DNA damage response genes 10 33 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196762472 196762472 + Missense_Mutation SNP T T A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:196762472T>A ENST00000312428.6 - 29 4666 c.4566A>T c.(4564-4566)gaA>gaT p.E1522D NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1522 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTCTTCATTTTCATTTGGAT 0.343000 4 19 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20939763 20939763 + Silent SNP G G T rs138535444 byFrequency TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:20939763G>T ENST00000298925.5 + 7 876 c.723G>T c.(721-723)ccG>ccT p.P241P NELL1_ENST00000325319.5_Silent_p.P156P|NELL1_ENST00000357134.5_Silent_p.P213P|NELL1_ENST00000532434.1_Silent_p.P213P Q92832 NELL1_HUMAN NEL-like 1 (chicken) 213 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TCTTTATGCCGAATGGATATA 0.368000 34 78 2.75727e-19 3.10661e-19 1 1 0 OR11H12 440153 broad.mit.edu 37 14 19377743 19377743 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr14:19377743T>C ENST00000550708.1 + 1 222 c.150T>C c.(148-150)taT>taC p.Y50Y NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTACAACATATGCACTGACTA 0.408000 23 93 0 0 1 0 0 MCHR1 2847 broad.mit.edu 37 22 41077747 41077747 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr22:41077747T>C ENST00000249016.4 + 2 1780 c.1084T>C c.(1084-1086)Tac>Cac p.Y362H MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.Y236H NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 362 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 TGTCTACTTATACAATGCGGC 0.552000 17 47 0 0 1 0 0 NPLOC4 55666 broad.mit.edu 37 17 79567371 79567371 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:79567371C>G ENST00000374747.5 - 9 1046 c.917G>C c.(916-918)cGg>cCg p.R306P NPLOC4_ENST00000331134.6_Missense_Mutation_p.R306P|NPLOC4_ENST00000539314.1_Missense_Mutation_p.R145P Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 306 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CAGTACCTTCCGCAGGCCAAG 0.592000 3 16 0 0 1 0 0 CTSF 8722 broad.mit.edu 37 11 66332460 66332460 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:66332460C>T ENST00000310325.5 - 9 1172 c.1063G>A c.(1063-1065)Gat>Aat p.D355N NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 355 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CTGTAGTCATCCTCTGTCTCC 0.557000 11 58 0 0 1 0 0 EBAG9 9166 broad.mit.edu 37 8 110573070 110573070 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:110573070G>A ENST00000337573.5 + 6 733 c.433G>A c.(433-435)Gaa>Aaa p.E145K EBAG9_ENST00000531677.1_Missense_Mutation_p.E145K|EBAG9_ENST00000395785.2_Missense_Mutation_p.E145K NM_001278938.1|NM_004215.3 NP_001265867.1|NP_004206.1 O00559 RCAS1_HUMAN estrogen receptor binding site associated, antigen, 9 145 apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2) 10 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) ATTGTAGTCTGAATTAGGTGA 0.383000 10 20 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99651700 99651700 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:99651700A>G ENST00000393483.3 - 17 2451 c.1607T>C c.(1606-1608)aTa>aCa p.I536T TSGA10_ENST00000539964.1_Missense_Mutation_p.I536T|TSGA10_ENST00000410001.1_Missense_Mutation_p.I536T|TSGA10_ENST00000355053.4_Missense_Mutation_p.I536T NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 536 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TACCATTTCTATTTCTTGATC 0.284000 6 31 0 0 1 0 0 SDE2 163859 broad.mit.edu 37 1 226179060 226179060 + Missense_Mutation SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:226179060C>A ENST00000272091.7 - 5 543 c.525G>T c.(523-525)atG>atT p.M175I NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) AGGCAGCCTGCATACCTAACC 0.413000 25 30 4.72057e-08 5.13285e-08 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11039066 11039066 + RNA SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr21:11039066A>G ENST00000470054.1 - 0 1137 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCCAGTAGAAAGTTCAGAATC 0.393000 23 347 0 0 1 0 0 DMKN 93099 broad.mit.edu 37 19 36003646 36003646 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:36003646C>T ENST00000339686.3 - 2 649 c.473G>A c.(472-474)gGa>gAa p.G158E DMKN_ENST00000440396.1_Missense_Mutation_p.G158E|DMKN_ENST00000424570.2_Missense_Mutation_p.G158E|DMKN_ENST00000447113.2_Missense_Mutation_p.G158E|DMKN_ENST00000419602.1_Missense_Mutation_p.G158E|DMKN_ENST00000418261.1_Missense_Mutation_p.G158E|DMKN_ENST00000451297.2_Missense_Mutation_p.G158E|DMKN_ENST00000429837.1_Missense_Mutation_p.G158E NM_033317.4 NP_201574 Q6E0U4 DMKN_HUMAN dermokine 158 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCCCTGGCCTCCAAGGCCACC 0.572000 5 20 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415909 86415909 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:86415909C>T ENST00000361669.2 + 3 1900 c.801C>T c.(799-801)ccC>ccT p.P267P GRM3_ENST00000439827.1_Silent_p.P267P|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Silent_p.P265P|GRM3_ENST00000536043.1_Silent_p.P139P NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 267 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCAGAAGCCCAACGCGCGCG 0.657000 25 7 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2692481 2692481 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr4:2692481C>G ENST00000324666.5 + 13 2065 c.1714C>G c.(1714-1716)Cca>Gca p.P572A FAM193A_ENST00000382839.3_Missense_Mutation_p.P572A|FAM193A_ENST00000502458.1_Missense_Mutation_p.P594A|FAM193A_ENST00000545951.1_Missense_Mutation_p.P572A|FAM193A_ENST00000505311.1_Missense_Mutation_p.P572A NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 572 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CCTTCCACCTCCATCTAGCAA 0.403000 11 53 0 0 1 0 0 NDC1 55706 broad.mit.edu 37 1 54238133 54238133 + Silent SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:54238133A>G ENST00000371429.3 - 17 2428 c.1830T>C c.(1828-1830)caT>caC p.H610H NDC1_ENST00000537333.1_Silent_p.H275H|NDC1_ENST00000234725.8_Silent_p.H495H|NDC1_ENST00000540001.1_3'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TACTGGAAGCATGAGGAAGCT 0.423000 23 49 0 0 1 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20224376 20224376 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr13:20224376G>A ENST00000361479.5 + 5 1620 c.1552G>A c.(1552-1554)Gtg>Atg p.V518M MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.V518M NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 518 cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) TTTAGACAGCGTGTGCCAAGC 0.403000 47 26 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31664748 31664748 + Missense_Mutation SNP G G A rs145269002 byFrequency TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:31664748G>A ENST00000395952.3 - 5 568 c.406C>T c.(406-408)Cgg>Tgg p.R136W ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.R103W|ABHD16A_ENST00000538874.1_Silent_p.I37I|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR NM_021160.2 NP_066983.1 O95870 ABHGA_HUMAN abhydrolase domain containing 16A 136 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 GACTGGTTCCGATGTGTTGCT 0.517000 12 75 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71756562 71756562 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr5:71756562C>T ENST00000318442.5 - 2 1252 c.762G>A c.(760-762)caG>caA p.Q254Q NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) AGGTGGGGCACTGCCAGCGCT 0.622000 18 56 0 0 1 0 0 RNF170 81790 broad.mit.edu 37 8 42711506 42711506 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:42711506G>A ENST00000534961.1 - 7 1049 c.573C>T c.(571-573)gtC>gtT p.V191V RNF170_ENST00000319073.4_Silent_p.V95V|RNF170_ENST00000319104.3_Intron|RNF170_ENST00000526349.1_Silent_p.V107V|RNF170_ENST00000527424.1_Silent_p.V191V NM_001160223.1 NP_001153695.1 Q96K19 RN170_HUMAN ring finger protein 170 191 integral to membrane zinc ion binding lung(3) 3 all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AAAGGCCCCCGACTGAAAACA 0.388000 26 53 0 0 1 0 0 NOTUM 147111 broad.mit.edu 37 17 79914810 79914810 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:79914810C>T ENST00000409678.3 - 7 1219 c.836G>A c.(835-837)tGc>tAc p.C279Y NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 279 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CGTGTCGACGCAGTCTGTGTG 0.667000 7 15 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3318783 3318783 + Missense_Mutation SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr4:3318783G>T ENST00000336727.3 + 2 1790 c.886G>T c.(886-888)Gcc>Tcc p.A296S RGS12_ENST00000382788.3_Missense_Mutation_p.A296S|RGS12_ENST00000543385.1_Missense_Mutation_p.A296S|RGS12_ENST00000344733.5_Missense_Mutation_p.A296S NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 296 PID. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGAGTACCCGGCCGAGAAGCT 0.617000 4 36 1 1 1 1 0 CCDC178 374864 broad.mit.edu 37 18 30969579 30969579 + Nonsense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr18:30969579G>A ENST00000383096.3 - 5 315 c.133C>T c.(133-135)Caa>Taa p.Q45* CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q45*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q45*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q45*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q45*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q45*|CCDC178_ENST00000579916.1_Nonsense_Mutation_p.Q45*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q45* coiled-coil domain containing 178 ACCAAACTTTGAGACATGGCA 0.299000 6 29 0 0 1 0 0 CSRP3 8048 broad.mit.edu 37 11 19206586 19206586 + Missense_Mutation SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:19206586G>T ENST00000533783.1 - 6 661 c.421C>A c.(421-423)Cac>Aac p.H141N CSRP3_ENST00000265968.3_Missense_Mutation_p.H141N NM_003476.4 NP_003467.1 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 (cardiac LIM protein) 141 LIM zinc-binding 2. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 CAGGTCTTGTGCCAAGGCTGA 0.478000 4 21 0.150653 0.152491 1 1 0 INTS8 55656 broad.mit.edu 37 8 95844222 95844222 + Silent SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:95844222C>G ENST00000523731.1 + 6 706 c.573C>G c.(571-573)ctC>ctG p.L191L INTS8_ENST00000447247.1_Silent_p.L191L NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 191 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) TTCTGTAGCTCAAAGAACAAG 0.303000 19 38 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666708 19666708 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr21:19666708T>C ENST00000284885.3 - 21 2398 c.2365A>G c.(2365-2367)Agt>Ggt p.S789G NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 789 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TTGGCATTACTTCCTCCAACA 0.483000 21 95 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169764145 169764145 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:169764145G>A ENST00000375363.3 + 5 716 c.624G>A c.(622-624)ctG>ctA p.L208L SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 208 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 GCACATACCTGAAGACCAACC 0.512000 21 49 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43821054 43821054 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr22:43821054C>T ENST00000417669.2 + 2 507 c.63C>T c.(61-63)tgC>tgT p.C21C MPPED1_ENST00000542779.1_Silent_p.C21C|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Silent_p.C54C|MPPED1_ENST00000443721.1_Silent_p.C21C O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) TCCTCCCCTGCGGCCTGGGCA 0.701000 7 7 0 0 1 0 0 PKN2 5586 broad.mit.edu 37 1 89270113 89270113 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:89270113C>T ENST00000370521.3 + 9 1680 c.1321C>T c.(1321-1323)Cgg>Tgg p.R441W PKN2_ENST00000370505.3_Missense_Mutation_p.R284W|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000544045.1_Missense_Mutation_p.R115W|PKN2_ENST00000316005.7_Missense_Mutation_p.R441W NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 441 C2. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GCGTGATTGGCGGTCTCTGTG 0.368000 5 36 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56495375 56495375 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:56495375G>A ENST00000267101.3 + 28 4005 c.3565G>A c.(3565-3567)Gaa>Aaa p.E1189K ERBB3_ENST00000553131.1_Missense_Mutation_p.E430K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1130K|ERBB3_ENST00000549832.1_Missense_Mutation_p.E309K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E546K|RP11-603J24.9_ENST00000548861.1_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1189 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCTGGGTACTGAAGAAGAAGA 0.522000 13 36 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79657709 79657709 + Silent SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:79657709A>G ENST00000329138.4 + 7 609 c.474A>G c.(472-474)ccA>ccG p.P158P NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 158 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CTCAGGCCCCAGACTGGGTGG 0.682000 13 31 0 0 1 0 0 RNF169 254225 broad.mit.edu 37 11 74546845 74546845 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:74546845C>T ENST00000299563.4 + 6 1210 c.1197C>T c.(1195-1197)ggC>ggT p.G399G NM_001098638.1 NP_001092108.1 Q8NCN4 RN169_HUMAN ring finger protein 169 399 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 TCCCTGATGGCCGTGTGCTAA 0.498000 4 127 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38810212 38810212 + Missense_Mutation SNP A A C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:38810212A>C ENST00000359357.3 + 32 4138 c.3884A>C c.(3883-3885)tAt>tCt p.Y1295S DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1512S|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y1295S dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATTAGTGGTTATTATGAAATA 0.338000 4 79 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54673273 54673273 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:54673273G>A ENST00000376591.4 - 3 568 c.437C>T c.(436-438)gCg>gTg p.A146V TMC4_ENST00000301187.4_Missense_Mutation_p.A140V|TMC4_ENST00000476013.2_5'UTR NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 146 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAGTGTCCACGCCCAGGGCTG 0.642000 5 41 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183676210 183676210 + Missense_Mutation SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr4:183676210C>A ENST00000511685.1 + 22 4813 c.4690C>A c.(4690-4692)Ctt>Att p.L1564I TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.L1564I teneurin transmembrane protein 3 TGGCAACACCCTTAGAATTAG 0.403000 6 19 0.00198382 0.00206682 1 1 0 RBBP8NL 140893 broad.mit.edu 37 20 60990648 60990648 + Nonsense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr20:60990648G>A ENST00000252998.1 - 8 769 c.613C>T c.(613-615)Cga>Tga p.R205* NM_080833.2 NP_543023.2 RBBP8 N-terminal like TCTGGGGCTCGCGACTCAGGC 0.647000 9 25 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48465157 48465157 + Silent SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:48465157C>A ENST00000358536.4 - 3 1133 c.864G>T c.(862-864)gcG>gcT p.A288A PLXNB1_ENST00000456774.1_Silent_p.A288A|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Silent_p.A288A|PLXNB1_ENST00000358459.4_Silent_p.A288A NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 288 Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCTCCCCATGCGCCACCTCCC 0.667000 8 6 5.4927e-09 5.99861e-09 1 1 0 FRMD1 79981 broad.mit.edu 37 6 168468070 168468070 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:168468070C>T ENST00000283309.6 - 3 425 c.361G>A c.(361-363)Gat>Aat p.D121N FRMD1_ENST00000440994.2_Missense_Mutation_p.D53N|FRMD1_ENST00000537786.1_5'UTR NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 121 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TTCTTCCAATCTTTTGAGAAG 0.488000 10 68 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885597 180885597 + Nonsense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:180885597C>T ENST00000367588.4 + 2 413 c.358C>T c.(358-360)Cga>Tga p.R120* NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 120 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CCAATGCAGACGAGGCAAGGC 0.592000 22 36 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720198 95720198 + RNA SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr10:95720198C>T ENST00000480546.1 - 0 1099 NR_002319.2 GCCACCCCGTCGAGCCTCTCC 0.517000 8 27 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245027270 245027270 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:245027270C>T ENST00000444376.2 - 1 574 c.340G>A c.(340-342)Ggg>Agg p.G114R HNRNPU_ENST00000283179.9_Missense_Mutation_p.G114R NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 114 Asp/Glu-rich (acidic). CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TCGGCCGCCCCCGCGGCCCCG 0.662000 3 17 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23111491 23111491 + Missense_Mutation SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:23111491G>T ENST00000400191.3 + 3 751 c.733G>T c.(733-735)Ggc>Tgc p.G245C EPHB2_ENST00000374627.1_Missense_Mutation_p.G239C|EPHB2_ENST00000544305.1_Missense_Mutation_p.G245C|EPHB2_ENST00000374632.3_Missense_Mutation_p.G245C|EPHB2_ENST00000374630.3_Missense_Mutation_p.G245C NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 245 Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TAACGGGGACGGCGAGTGGCT 0.652000 8 59 0.000442599 0.000468967 1 1 0 CDC27 996 broad.mit.edu 37 17 45247377 45247377 + Nonsense_Mutation SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:45247377C>A ENST00000066544.3 - 4 376 c.283G>T c.(283-285)Gga>Tga p.G95* CDC27_ENST00000446365.2_Nonsense_Mutation_p.G34*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.G95*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.G95*|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 95 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTAAACACTCCACCAGATAAG 0.313000 4 128 0.184627 0.186122 1 1 0 ITGA7 3679 broad.mit.edu 37 12 56087054 56087054 + Silent SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:56087054G>C ENST00000257880.7 - 21 2934 c.2715C>G c.(2713-2715)ctC>ctG p.L905L ITGA7_ENST00000553804.1_Silent_p.L865L|ITGA7_ENST00000394230.2_Silent_p.L865L|ITGA7_ENST00000347027.6_Silent_p.L855L|ITGA7_ENST00000452168.2_Silent_p.L768L|ITGA7_ENST00000257879.6_Silent_p.L861L|ITGA7_ENST00000394229.2_Silent_p.L861L|ITGA7_ENST00000555728.1_Silent_p.L905L Q13683 ITA7_HUMAN integrin, alpha 7 905 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ACATGATGTTGAGGAAGGCAG 0.527000 14 34 0 0 1 0 0 LFNG 3955 broad.mit.edu 37 7 2565890 2565890 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:2565890C>T ENST00000222725.5 + 6 854 c.834C>T c.(832-834)ttC>ttT p.F278F LFNG_ENST00000359574.3_Silent_p.F278F|LFNG_ENST00000402045.1_Silent_p.F149F|LFNG_ENST00000402506.1_Silent_p.F207F|LFNG_ENST00000338732.3_Silent_p.F149F NM_001040167.1 NP_001035257.1 Q8NES3 LFNG_HUMAN LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 278 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) GGGGTCACTTCATGAATACGG 0.672000 14 31 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68968169 68968169 + Missense_Mutation SNP A A C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:68968169A>C ENST00000288368.4 + 10 1475 c.1198A>C c.(1198-1200)Aag>Cag p.K400Q PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 400 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CAAAGACCGAAAGAGAAAACT 0.398000 6 104 0 0 1 0 0 CEP85L 387119 broad.mit.edu 37 6 118844983 118844983 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:118844983T>C ENST00000368491.3 - 4 1742 c.1121A>G c.(1120-1122)aAa>aGa p.K374R CEP85L_ENST00000419517.2_Missense_Mutation_p.K374R|CEP85L_ENST00000368488.5_Missense_Mutation_p.K377R|CEP85L_ENST00000360290.3_Missense_Mutation_p.K272R|CEP85L_ENST00000392500.3_Missense_Mutation_p.K377R NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 374 centrosome TACAATTTCTTTCTGCCTTAG 0.318000 6 29 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328426 88328426 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr13:88328426T>C ENST00000325089.6 + 2 1002 c.783T>C c.(781-783)gaT>gaC p.D261D SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 261 LRRCT 1. integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGGTGGGGGATGTAGTTTGTG 0.498000 22 70 0 0 1 0 0 HOXC-AS3 100874365 broad.mit.edu 37 12 54378959 54378959 + RNA SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:54378959C>T ENST00000514702.1 - 0 44 cccctccaaccgcgccccccc 0.542000 4 54 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73020091 73020091 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:73020091G>A ENST00000313375.3 - 7 875 c.828C>T c.(826-828)gtC>gtT p.V276V MLXIPL_ENST00000414749.2_Silent_p.V276V|MLXIPL_ENST00000354613.1_Silent_p.V276V|MLXIPL_ENST00000434326.1_Silent_p.V183V|MLXIPL_ENST00000429400.2_Silent_p.V276V|MLXIPL_ENST00000395189.1_Silent_p.V183V NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 276 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) CAGCATTGCCGACGTAGGCTG 0.662000 5 7 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155291669 155291669 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:155291669G>A ENST00000368352.5 + 2 256 c.105G>A c.(103-105)ggG>ggA p.G35G RUSC1_ENST00000368354.3_Silent_p.G35G|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 35 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TACAGGAGGGGCCTTTGAGCA 0.637000 6 26 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7283158 7283158 + Missense_Mutation SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:7283158C>A ENST00000436587.2 + 4 1115 c.892C>A c.(892-894)Cct>Act p.P298T C1GALT1_ENST00000223122.3_Missense_Mutation_p.P298T NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 298 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TTTTTAGGGTCCTGGTTGCTG 0.338000 18 145 1.01871e-10 1.12737e-10 1 1 0 COL15A1 1306 broad.mit.edu 37 9 101807038 101807038 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr9:101807038G>A ENST00000375001.3 + 26 3088 c.2665G>A c.(2665-2667)Gcc>Acc p.A889T NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 889 Triple-helical region 5 (COL5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AATGCATGGAGCCCCAGGACC 0.468000 5 29 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130442089 130442089 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:130442089C>T ENST00000529410.1 + 22 2431 c.1952C>T c.(1951-1953)tCa>tTa p.S651L L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S651L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S626L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S651L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S626L|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S626L Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 651 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) ATGAGAACATCACATGAAGCC 0.338000 16 71 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72338244 72338244 + Missense_Mutation SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:72338244G>T ENST00000333850.3 + 3 567 c.426G>T c.(424-426)tgG>tgT p.W142C TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 142 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) AGAACATTTGGACAGAGGAAG 0.408000 35 64 2.05212e-20 2.32263e-20 1 1 0 TM9SF4 9777 broad.mit.edu 37 20 30738461 30738461 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr20:30738461G>A ENST00000217315.5 + 11 1413 c.1073G>A c.(1072-1074)cGg>cAg p.R358Q TM9SF4_ENST00000398022.2_Missense_Mutation_p.R375Q Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 375 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCCTCCAGCCGGGGAGCTCTC 0.632000 11 98 0 0 1 0 0 PDXDC1 23042 broad.mit.edu 37 16 15126720 15126720 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:15126720A>G ENST00000396410.4 + 18 1671 c.1574A>G c.(1573-1575)tAt>tGt p.Y525C PDXDC1_ENST00000450288.2_Missense_Mutation_p.Y497C|PDXDC1_ENST00000563679.1_Missense_Mutation_p.Y543C|PDXDC1_ENST00000325823.7_Missense_Mutation_p.Y510C|PDXDC1_ENST00000569715.1_Missense_Mutation_p.Y498C|PDXDC1_ENST00000447912.2_Missense_Mutation_p.Y434C|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 525 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TGTTTTAGGTATGAACATGCT 0.373000 18 60 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48691020 48691020 + Splice_Site SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:48691020C>T ENST00000314191.2 - 84 11906 c.11850G>A c.(11848-11850)caG>caA p.Q3950Q PRKDC_ENST00000338368.3_Splice_Site_p.Q3919Q|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3951 PI3K/PI4K. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCAAGTGCACCTGTGTAGCGG 0.493000 Non-homologous end-joining 10 9 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154938917 154938917 + Missense_Mutation SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:154938917G>C ENST00000448116.2 - 8 1280 c.1060C>G c.(1060-1062)Ccg>Gcg p.P354A SHC1_ENST00000368445.5_Missense_Mutation_p.P354A|SHC1_ENST00000368450.1_Missense_Mutation_p.P244A|SHC1_ENST00000606391.1_Missense_Mutation_p.P155A|SHC1_ENST00000368449.4_Missense_Mutation_p.P125A|SHC1_ENST00000368453.4_Missense_Mutation_p.P244A NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 354 CH1. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCTTCCCCGGGAAGTCATTA 0.612000 11 5 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18142470 18142470 + Nonsense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr20:18142470C>G ENST00000435364.3 + 5 1030 c.689C>G c.(688-690)tCa>tGa p.S230* CSRP2BP_ENST00000377681.3_Nonsense_Mutation_p.S229*|CSRP2BP_ENST00000489634.2_Nonsense_Mutation_p.S102* NM_020536.4 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 TTAGCAGCCTCAAAACCAACT 0.403000 30 42 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76731913 76731913 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:76731913G>A ENST00000369950.3 - 6 775 c.586C>T c.(586-588)Cct>Tct p.P196S IMPG1_ENST00000369963.3_3'UTR NM_001282368.1|NM_001563.2 NP_001269297.1|NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 196 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AGAGGGAAAGGCCCAAGTGAG 0.383000 4 33 0 0 1 0 0 PSMB9 5698 broad.mit.edu 37 6 32827271 32827271 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:32827271A>G ENST00000395330.1 + 6 701 c.553A>G c.(553-555)Atc>Gtc p.I185V PSMB9_ENST00000374859.2_Missense_Mutation_p.I208V P28065 PSB9_HUMAN proteasome (prosome, macropain) subunit, beta type, 9 208 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity large_intestine(4)|lung(4)|skin(1) 9 CCATCGAGTCATCTTGGGCAA 0.493000 33 229 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53045805 53045805 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:53045805G>A ENST00000309680.3 - 1 143 c.122C>T c.(121-123)tCc>tTc p.S41F NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 41 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) GCTCAAGCAGGAGAAGCTGGA 0.607000 3 21 0 0 1 0 0 TMEM161A 54929 broad.mit.edu 37 19 19231584 19231584 + Silent SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:19231584G>C ENST00000450333.2 - 9 904 c.867C>G c.(865-867)ctC>ctG p.L289L TMEM161A_ENST00000587583.2_Silent_p.L367L|TMEM161A_ENST00000162044.9_Silent_p.L392L NM_001256766.1 NP_001243695.1 Q9NX61 T161A_HUMAN transmembrane protein 161A 392 cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) CCAGCGTCTTGAGCAGAAGTG 0.622000 9 35 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67052451 67052451 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:67052451C>T ENST00000308595.5 + 19 2078 c.1788C>T c.(1786-1788)gcC>gcT p.A596A ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 596 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) AGGGCGAGGCCCCGGTAAGGA 0.706000 9 19 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70517050 70517050 + Silent SNP T T G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:70517050T>G ENST00000260128.4 + 13 1977 c.1260T>G c.(1258-1260)cgT>cgG p.R420R SULF1_ENST00000419716.3_Silent_p.R420R|SULF1_ENST00000458141.2_Silent_p.R420R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.R420R NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 420 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AATTTCTACGTAAGAAGGAAG 0.443000 25 68 0 0 1 0 0 CTSB 1508 broad.mit.edu 37 8 11703241 11703241 + Missense_Mutation SNP C C G rs73209021 by1000genomes TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:11703241C>G ENST00000353047.6 - 9 1104 c.851G>C c.(850-852)gGc>gCc p.G284A CTSB_ENST00000531089.1_Missense_Mutation_p.G284A|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000534510.1_Missense_Mutation_p.G284A|CTSB_ENST00000345125.3_Missense_Mutation_p.G284A|CTSB_ENST00000434271.1_Missense_Mutation_p.G284A|CTSB_ENST00000530640.2_Missense_Mutation_p.G284A|CTSB_ENST00000533455.1_Missense_Mutation_p.G284A|CTSB_ENST00000453527.2_Missense_Mutation_p.G284A NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B 284 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CACTCCCCAGCCCAGGATGCG 0.592000 4 11 0 0 1 0 0 LOC101928517 101928517 broad.mit.edu 37 19 51671510 51671510 + RNA SNP T T G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:51671510T>G ENST00000600074.1 - 0 493 SIGLEC17P_ENST00000598286.1_RNA CCTCCACTCCTCAGTGCTCAC 0.637000 6 29 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70617325 70617325 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:70617325T>C ENST00000260126.4 - 6 2269 c.1563A>G c.(1561-1563)ctA>ctG p.L521L SLCO5A1_ENST00000524945.1_Silent_p.L521L|SLCO5A1_ENST00000530307.1_Silent_p.L466L NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 integral to membrane|plasma membrane transporter activity p.L521L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CAACAATAAATAGGGTTGAAA 0.403000 22 99 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7283159 7283159 + Missense_Mutation SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:7283159C>A ENST00000436587.2 + 4 1116 c.893C>A c.(892-894)cCt>cAt p.P298H C1GALT1_ENST00000223122.3_Missense_Mutation_p.P298H NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 298 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TTTTAGGGTCCTGGTTGCTGC 0.338000 18 142 1.01871e-10 1.12737e-10 1 1 0 CDX1 1044 broad.mit.edu 37 5 149562432 149562432 + Missense_Mutation SNP C C T rs140956520 TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr5:149562432C>T ENST00000231656.8 + 2 629 c.547C>T c.(547-549)Cgg>Tgg p.R183W NM_001804.2 NP_001795.2 P47902 CDX1_HUMAN caudal type homeobox 1 183 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|lung(1)|ovary(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACAATCCGGCGGAAATCAGA 0.557000 12 47 0 0 1 0 0 CYB561A3 220002 broad.mit.edu 37 11 61124063 61124063 + Missense_Mutation SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:61124063G>C ENST00000546151.1 - 3 391 c.123C>G c.(121-123)atC>atG p.I41M CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.I41M|CYB561A3_ENST00000536915.1_Missense_Mutation_p.I41M|CYB561A3_ENST00000426130.2_Missense_Mutation_p.I58M|CYB561A3_ENST00000294072.4_Missense_Mutation_p.I41M|CYB561A3_ENST00000539890.1_Missense_Mutation_p.I41M|CYB561A3_ENST00000544118.1_Missense_Mutation_p.I41M cytochrome b561 family, member A3 TGAACATGTAGATGCTGCCAT 0.552000 3 76 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42067506 42067506 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr15:42067506G>A ENST00000457542.2 + 2 319 c.33G>A c.(31-33)cgG>cgA p.R11R MAPKBP1_ENST00000456763.2_Silent_p.R11R|MAPKBP1_ENST00000514566.1_Silent_p.R11R|MAPKBP1_ENST00000221214.6_Silent_p.R11R|MAPKBP1_ENST00000260357.7_5'UTR NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 11 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TTACCAGCCGGATCAAGAATC 0.552000 15 14 0 0 1 0 0 CDC25A 993 broad.mit.edu 37 3 48215811 48215811 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:48215811C>T ENST00000302506.3 - 9 1301 c.893G>A c.(892-894)aGc>aAc p.S298N CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.S258N NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 298 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CTCTTTGGGGCTGGCCCCAGA 0.463000 3 40 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34773104 34773104 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr20:34773104C>T ENST00000338074.2 + 7 793 c.632C>T c.(631-633)aCg>aTg p.T211M EPB41L1_ENST00000373950.2_Missense_Mutation_p.T114M|EPB41L1_ENST00000373941.1_Missense_Mutation_p.T211M|EPB41L1_ENST00000441639.1_Missense_Mutation_p.T149M|EPB41L1_ENST00000202028.5_Missense_Mutation_p.T149M|EPB41L1_ENST00000373946.3_Missense_Mutation_p.T180M NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 211 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) TCCTTTGTCACGCATGCCCTA 0.617000 10 35 0 0 1 0 0 CBFA2T3 863 broad.mit.edu 37 16 88945773 88945773 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:88945773C>G ENST00000268679.4 - 11 1963 c.1567G>C c.(1567-1569)Gag>Cag p.E523Q CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E447Q|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E485Q|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E437Q|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E437Q NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 523 cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) TTGGCACGCTCCGTGGTGATG 0.662000 T RUNX1 AML 11 11 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48026079 48026079 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:48026079G>A ENST00000234420.5 + 4 1109 c.957G>A c.(955-957)acG>acA p.T319T MSH6_ENST00000538136.1_Silent_p.T17T|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.T189T NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGAAGGAAACGCCCTCAGCCA 0.463000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 15 133 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65268354 65268354 + RNA SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:65268354G>A ENST00000534336.1 + 0 3122 NR_002819.2 ATTTATATGGGGACGTAGGCC 0.403000 17 14 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1730407 1730407 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr4:1730407C>T ENST00000313288.4 + 4 1384 c.1278C>T c.(1276-1278)tgC>tgT p.C426C NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 426 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AGTCTGGTTGCAGTGAGGCCC 0.627000 8 54 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179096498 179096498 + Missense_Mutation SNP A A C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:179096498A>C ENST00000471841.1 + 14 1684 c.1558A>C c.(1558-1560)Att>Ctt p.I520L MFN1_ENST00000263969.5_Missense_Mutation_p.I520L|MFN1_ENST00000280653.7_Intron NM_033540.2 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 520 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TCAAGAGGATATTGTATTTCC 0.383000 9 75 0 0 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20876526 20876526 + RNA SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr15:20876526T>C ENST00000556948.1 - 0 74 CTCCATGAGATAAACCATCAA 0.348000 6 62 0 0 1 0 0 GTF2IRD2B 389524 broad.mit.edu 37 7 74564051 74564051 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:74564051G>A ENST00000312575.7 + 16 1973 c.1798G>A c.(1798-1800)Gag>Aag p.E600K GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.E147K NM_001003795.2 NP_001003795.1 Q6EKJ0 GTD2B_HUMAN GTF2I repeat domain containing 2B 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|ovary(2)|prostate(1) 4 tttgcgtgttgagaagagcct 0.507000 41 14 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9254672 9254672 + Silent SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr18:9254672A>G ENST00000262126.4 + 9 1647 c.1407A>G c.(1405-1407)aaA>aaG p.K469K ANKRD12_ENST00000383440.2_Silent_p.K446K|ANKRD12_ENST00000400020.3_Silent_p.K446K NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ACAaacagaaaggcaaagtta 0.299000 6 33 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195611833 195611833 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:195611833C>T ENST00000333602.6 - 4 923 c.306G>A c.(304-306)tcG>tcA p.S102S TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000316664.3_Silent_p.S102S|TNK2_ENST00000428187.1_Silent_p.S134S|TNK2_ENST00000381916.2_Silent_p.S165S|TNK2_ENST00000392400.1_Silent_p.S102S NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 102 SAM-like domain. positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CAGGGGCGGGCGAGGTCTTCC 0.647000 4 45 0 0 1 0 0 KIF12 113220 broad.mit.edu 37 9 116857561 116857561 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr9:116857561G>A ENST00000374118.3 - 7 770 c.533C>T c.(532-534)cCt>cTt p.P178L KIF12_ENST00000473174.1_5'UTR NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 311 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 GTCCCGGAAAGGGATGTGGCT 0.612000 12 3 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37210291 37210291 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:37210291G>A ENST00000585696.1 + 3 1802 c.572G>A c.(571-573)aGg>aAg p.R191K ZNF567_ENST00000360729.4_Missense_Mutation_p.R191K|ZNF567_ENST00000536254.2_Missense_Mutation_p.R222K|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.R191K|ZNF567_ENST00000392163.2_Missense_Mutation_p.R191K Q8N184 ZN567_HUMAN zinc finger protein 567 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTCCTTCAAAGGGGAGGCCTG 0.353000 26 11 0 0 1 0 0 LRRC14B 389257 broad.mit.edu 37 5 195214 195214 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr5:195214C>T ENST00000328278.3 + 2 1319 c.1291C>T c.(1291-1293)Ccc>Tcc p.P431S NM_001080478.1 NP_001073947.1 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 431 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 10 GGACTGCTACCCCGAGGGTGC 0.667000 86 100 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257198 9257198 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr18:9257198C>G ENST00000262126.4 + 9 4173 c.3933C>G c.(3931-3933)agC>agG p.S1311R ANKRD12_ENST00000383440.2_Missense_Mutation_p.S1288R|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1288R NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GAAGATGTAGCATGCCTTCTG 0.388000 15 63 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31123760 31123760 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:31123760G>A ENST00000304166.4 + 7 622 c.333G>A c.(331-333)atG>atA p.M111I ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.M90I|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.M111I|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.M111I NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 111 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CTGCAGACATGGGAGTGGTGA 0.478000 3 12 0 0 1 0 0 KRTAP19-7 337974 broad.mit.edu 37 21 31933600 31933600 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr21:31933600G>A ENST00000334849.2 - 1 33 c.9C>T c.(7-9)taC>taT p.Y3Y NM_181614.1 NP_853645.1 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 3 intermediate filament endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 11 AGCTGCCGGAGTAGCTCATGT 0.522000 32 21 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101446301 101446301 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:101446301G>A ENST00000341893.3 + 3 1013 c.261G>A c.(259-261)ttG>ttA p.L87L CEP97_ENST00000327230.4_Silent_p.L87L|CEP97_ENST00000494050.1_Silent_p.L87L Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 87 centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TATTAAATTTGCCTCATAATA 0.393000 104 90 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145771084 145771084 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:145771084C>T ENST00000276826.5 - 5 2271 c.2070G>A c.(2068-2070)tcG>tcA p.S690S ARHGAP39_ENST00000540274.1_Silent_p.S690S|ARHGAP39_ENST00000377307.2_Silent_p.S690S Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 690 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TGTCCGTCTCCGAGGAGGGCT 0.647000 17 28 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793575 17793575 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:17793575G>A ENST00000379472.3 + 2 964 c.934G>A c.(934-936)Gtc>Atc p.V312I KCNC1_ENST00000265969.6_Missense_Mutation_p.V312I NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 312 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CTTCCTGCGCGTCGTCCGCTT 0.627000 6 24 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148489822 148489822 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:148489822C>T ENST00000325222.4 + 17 2090 c.1811C>T c.(1810-1812)tCg>tTg p.S604L CUL1_ENST00000602748.1_Missense_Mutation_p.S604L|CUL1_ENST00000409469.1_Missense_Mutation_p.S604L NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 604 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GCAAAGGCGTCGACATTCCAG 0.423000 18 8 0 0 1 0 0 MRPL34 64981 broad.mit.edu 37 19 17416678 17416678 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:17416678G>A ENST00000595444.1 + 2 285 c.253G>A c.(253-255)Ggt>Agt p.G85S MRPL34_ENST00000252602.1_5'UTR|MRPL34_ENST00000594999.1_5'UTR|MRPL34_ENST00000600434.1_5'UTR Q9BQ48 RM34_HUMAN mitochondrial ribosomal protein L34 0 translation structural constituent of ribosome endometrium(1)|lung(1) 2 GCCCGCAGCCGGTACTGCGGG 0.602000 11 18 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47236577 47236577 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:47236577T>C ENST00000300404.2 + 6 916 c.857T>C c.(856-858)aTa>aCa p.I286T B4GALNT2_ENST00000504681.1_Missense_Mutation_p.I200T|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.I226T NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 286 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) AAGGTAGACATAGGTGAGAGC 0.493000 60 57 0 0 1 0 0 DHX40 79665 broad.mit.edu 37 17 57644014 57644014 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:57644014G>A ENST00000251241.4 + 2 286 c.139G>A c.(139-141)Gga>Aga p.G47R DHX40_ENST00000425628.3_Missense_Mutation_p.G47R|DHX40_ENST00000451169.2_5'UTR NM_024612.4 NP_078888.4 Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 47 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GTCCCAGGAGGGAGGAACTAC 0.353000 18 23 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28331596 28331596 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:28331596G>A ENST00000341901.4 + 4 1418 c.629G>A c.(628-630)gGc>gAc p.G210D NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 210 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 CGCGTGAGCGGCACCATCCCT 0.721000 3 9 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 5 62 0 0 1 0 0 LMNB1 4001 broad.mit.edu 37 5 126154823 126154823 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr5:126154823C>T ENST00000261366.5 + 6 1510 c.1149C>T c.(1147-1149)ggC>ggT p.G383G LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Silent_p.G383G NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 383 Coil 2.|Rod. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) TCTTAGAAGGCGAAGAAGAGA 0.388000 8 31 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 5 46 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234593467 234593467 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:234593467G>A ENST00000040877.1 - 9 1667 c.1668C>T c.(1666-1668)ctC>ctT p.L556L NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 556 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity p.L556L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCAGAGACATGAGAAAAGTTG 0.328000 5 35 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30900155 30900155 + Silent SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:30900155C>A ENST00000597505.1 - 36 5327 c.5328G>T c.(5326-5328)ctG>ctT p.L1776L P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GTGCCAGAGACAGCAGCTTCG 0.448000 7 22 0.00198382 0.00206682 1 1 0 BRWD1 54014 broad.mit.edu 37 21 40650731 40650731 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr21:40650731G>A ENST00000342449.3 - 10 1019 c.941C>T c.(940-942)cCc>cTc p.P314L BRWD1_ENST00000333229.2_Missense_Mutation_p.P314L|BRWD1_ENST00000380800.3_Missense_Mutation_p.P314L NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GAACTTCAGGGGACGTGGGCT 0.308000 14 84 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145502057 145502057 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr5:145502057C>G ENST00000394434.2 - 30 3356 c.3190G>C c.(3190-3192)Gaa>Caa p.E1064Q LARS_ENST00000545646.1_Missense_Mutation_p.E1018Q|LARS_ENST00000274562.9_Missense_Mutation_p.E1037Q|LARS_ENST00000510191.1_Missense_Mutation_p.E1010Q NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 1064 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CAACTTACTTCTATTCTAAAA 0.353000 6 40 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123366124 123366124 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:123366124G>A ENST00000360772.3 - 28 4944 c.4566C>T c.(4564-4566)gtC>gtT p.V1522V MYLK_ENST00000359169.1_Silent_p.V1522V|MYLK_ENST00000354792.5_Silent_p.V322V|MYLK_ENST00000475616.1_Silent_p.V1522V|MYLK_ENST00000346322.5_Silent_p.V1453V|MYLK_ENST00000360304.3_Silent_p.V1522V Q15746 MYLK_HUMAN myosin light chain kinase 1522 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCACACACTGGACCAGCTTAG 0.537000 10 65 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18745306 18745306 + Missense_Mutation SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:18745306G>T ENST00000304081.4 - 9 1509 c.1409C>A c.(1408-1410)cCt>cAt p.P470H NT5C1B_ENST00000359846.2_Missense_Mutation_p.P530H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P530H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P530H NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGTCCTGATAGGACAAAGTAA 0.478000 15 50 1.5739e-10 1.73407e-10 1 1 0 RNF43 54894 broad.mit.edu 37 17 56492721 56492721 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:56492721G>A ENST00000584437.1 - 1 2173 c.218C>T c.(217-219)gCt>gTt p.A73V RNF43_ENST00000500597.2_Missense_Mutation_p.A73V|RNF43_ENST00000583753.1_Missense_Mutation_p.A73V|RNF43_ENST00000577716.1_Missense_Mutation_p.A73V|RNF43_ENST00000407977.2_Missense_Mutation_p.A73V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron Q68DV7 RNF43_HUMAN ring finger protein 43 73 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGTTATTTCAGCAACACCAGC 0.378000 12 46 0 0 1 0 0 RPL10L 140801 broad.mit.edu 37 14 47120594 47120594 + Nonsense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr14:47120594G>A ENST00000298283.3 - 1 434 c.346C>T c.(346-348)Cga>Tga p.R116* NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 116 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 AAGGCACCTCGCATACCTGTC 0.547000 3 37 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31201100 31201100 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:31201100A>G ENST00000254108.7 + 10 1156 c.1051A>G c.(1051-1053)Att>Gtt p.I351V FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Missense_Mutation_p.I350V|FUS_ENST00000568685.1_Missense_Mutation_p.I352V NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 351 RRM. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) TAAAGCAGCTATTGACTGGTT 0.493000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 23 28 0 0 1 0 0 CTSB 1508 broad.mit.edu 37 8 11703250 11703250 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:11703250C>G ENST00000353047.6 - 9 1095 c.842G>C c.(841-843)cGc>cCc p.R281P CTSB_ENST00000531089.1_Missense_Mutation_p.R281P|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000534510.1_Missense_Mutation_p.R281P|CTSB_ENST00000345125.3_Missense_Mutation_p.R281P|CTSB_ENST00000434271.1_Missense_Mutation_p.R281P|CTSB_ENST00000530640.2_Missense_Mutation_p.R281P|CTSB_ENST00000533455.1_Missense_Mutation_p.R281P|CTSB_ENST00000453527.2_Missense_Mutation_p.R281P NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B 281 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity p.R281H(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) GCCCAGGATGCGGATGGCATG 0.612000 3 14 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134039286 134039286 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr9:134039286A>G ENST00000359428.5 + 20 2897 c.2753A>G c.(2752-2754)aAt>aGt p.N918S RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.N908S|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588325.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.N919S P35658 NU214_HUMAN nucleoporin 214kDa 918 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AGCCTGTGCAATGCTTTGTTG 0.443000 T """DEK, SET, ABL1""" """AML, T-ALL""" 36 124 0 0 1 0 0 MLLT4-AS1 653483 broad.mit.edu 37 6 168226674 168226674 + RNA SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:168226674G>T ENST00000359760.5 - 0 715 NR_027906.1 CGCCCATTTGGATACTGCACC 0.677000 8 113 0.000274275 0.000291857 1 1 0 CCDC129 223075 broad.mit.edu 37 7 31682827 31682827 + Nonsense_Mutation SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:31682827G>T ENST00000319386.3 + 11 2392 c.1399G>T c.(1399-1401)Gag>Tag p.E467* CCDC129_ENST00000407970.3_Nonsense_Mutation_p.E615*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.E523*|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.E641* Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 615 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGTTGACTCTGAGGCCCCACG 0.502000 16 49 5.01169e-05 5.35585e-05 1 1 0 SPSB2 84727 broad.mit.edu 37 12 6981997 6981997 + Silent SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:6981997G>C ENST00000519357.1 - 2 255 c.69C>G c.(67-69)ctC>ctG p.L23L SPSB2_ENST00000523102.1_Silent_p.L23L|SPSB2_ENST00000524270.1_Silent_p.L23L Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box containing 2 23 intracellular signal transduction cytoplasm protein binding kidney(2)|lung(2)|upper_aerodigestive_tract(1) 5 CGGGACAGGAGAGGTCAGGGT 0.652000 OREG0021639 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 39 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26046043 26046043 + Silent SNP G G A rs150572643 byFrequency TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:26046043G>A ENST00000540144.1 + 1 405 c.405G>A c.(403-405)agG>agA p.R135R NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 135 Missing (in Ref. 2; AAA52651). blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GTGGGGAAAGGGCATAAGTCT 0.473000 39 23 0 0 1 0 0 USP14 9097 broad.mit.edu 37 18 178985 178985 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr18:178985C>T ENST00000261601.7 + 4 339 c.248C>T c.(247-249)tCa>tTa p.S83L USP14_ENST00000400266.3_Missense_Mutation_p.S72L|USP14_ENST00000383589.2_Intron|USP14_ENST00000582707.1_Intron NM_005151.3 NP_005142.1 P54578 UBP14_HUMAN ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2) 11 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) GAAGAACCCTCAGCCAAAACT 0.373000 16 40 0 0 1 0 0 HARBI1 283254 broad.mit.edu 37 11 46637624 46637624 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:46637624G>A ENST00000326737.3 - 2 411 c.164C>T c.(163-165)gCg>gTg p.A55V NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 55 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 AGAAAGATTCGCCCCCAAGAG 0.483000 15 23 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30902828 30902828 + Missense_Mutation SNP T T G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:30902828T>G ENST00000597505.1 - 35 5100 c.5101A>C c.(5101-5103)Aaa>Caa p.K1701Q P59894 DCDC1_HUMAN doublecortin domain containing 1 207 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGGGTCATTTTGAGACGAGAG 0.498000 15 31 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673331 186673331 + Nonsense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:186673331C>G ENST00000343098.5 + 17 19565 c.19565C>G c.(19564-19566)tCa>tGa p.S6522* FSIP2_ENST00000424728.1_Nonsense_Mutation_p.S6433* NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CTGCAACAATCAGGAACCAAC 0.318000 12 42 0 0 1 0 0 MIR1283-2 100302205 broad.mit.edu 37 19 54261513 54261513 + RNA SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:54261513C>A ENST00000408621.1 + 0 28 NR_031696.1 CAAAGGAAAGCGCTTTCTGTT 0.403000 21 118 7.87624e-14 8.83417e-14 1 1 0 CADPS 8618 broad.mit.edu 37 3 62464049 62464049 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:62464049G>A ENST00000383710.4 - 23 3565 c.3216C>T c.(3214-3216)gaC>gaT p.D1072D CADPS_ENST00000357948.3_Silent_p.D993D|CADPS_ENST00000283269.9_Silent_p.D1033D NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1072 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TCTGAAGGGCGTCAAGTTTCC 0.478000 7 23 0 0 1 0 0 RPL23A 6147 broad.mit.edu 37 17 27049770 27049770 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:27049770C>T ENST00000422514.2 + 3 852 c.239C>T c.(238-240)cCg>cTg p.P80L RPL23A_ENST00000394938.4_Missense_Mutation_p.P118L|RPL23A_ENST00000472628.1_5'UTR|RPL23A_ENST00000496182.1_5'UTR|AC010761.8_ENST00000582718.1_RNA NM_000984.5 NP_000975.2 P62750 RL23A_HUMAN ribosomal protein L23a 80 cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome endometrium(1)|lung(3)|ovary(1) 5 Lung NSC(42;0.00431) ATCAAGTTTCCGCTGACCACT 0.502000 12 108 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20027397 20027397 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:20027397C>T ENST00000343769.5 + 3 187 c.159C>T c.(157-159)atC>atT p.I53I ZNF93_ENST00000592160.1_Silent_p.I53I|AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000591366.1_Silent_p.I53I NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 53 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 CAGACCTGATCGCCCATCTGG 0.398000 12 61 0 0 1 0 0 HOXB5 3215 broad.mit.edu 37 17 46670879 46670879 + Missense_Mutation SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:46670879C>A ENST00000239151.5 - 1 444 c.166G>T c.(166-168)Gtc>Ttc p.V56F HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 56 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 GAGCGGTTGACGCTGAGGTCC 0.652000 8 21 3.09899e-07 3.35499e-07 1 1 0 ZNF16 7564 broad.mit.edu 37 8 146157424 146157424 + Nonsense_Mutation SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:146157424G>T ENST00000276816.4 - 4 935 c.749C>A c.(748-750)tCa>tAa p.S250* ZNF16_ENST00000394909.2_Nonsense_Mutation_p.S250* NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TTTAAGAACTGAGTTCTGGCT 0.463000 70 97 2.49587e-40 2.87718e-40 1 1 0 KIF19 124602 broad.mit.edu 37 17 72340420 72340420 + Missense_Mutation SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:72340420G>T ENST00000389916.4 + 6 653 c.515G>T c.(514-516)cGg>cTg p.R172L NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 172 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CTGGAGCTGCGGGAGGACTCT 0.617000 7 28 0.0293803 0.0299824 1 1 0 MYO10 4651 broad.mit.edu 37 5 16672920 16672920 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr5:16672920C>T ENST00000513610.1 - 37 5641 c.5187G>A c.(5185-5187)ctG>ctA p.L1729L MYO10_ENST00000515803.1_Silent_p.L1068L|MYO10_ENST00000274203.9_Silent_p.L1086L|MYO10_ENST00000505695.1_Silent_p.L1068L|MYO10_ENST00000427430.2_Silent_p.L1086L NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1729 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GGCCTCGGATCAGCTTCTCCA 0.562000 3 30 0 0 1 0 0 CAPG 822 broad.mit.edu 37 2 85626397 85626397 + Silent SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:85626397G>C ENST00000263867.4 - 6 777 c.528C>G c.(526-528)gcC>gcG p.A176A CAPG_ENST00000409724.1_Silent_p.A176A|CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409921.1_Silent_p.A176A|CAPG_ENST00000409670.1_Silent_p.A176A NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 176 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 CACCACACCAGGCGAAGATGT 0.617000 5 4 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55120086 55120086 + Missense_Mutation SNP T T G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:55120086T>G ENST00000370862.3 + 3 891 c.555T>G c.(553-555)atT>atG p.I185M NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 185 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTATAATGATTCCTCAGGCCA 0.502000 11 60 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49244222 49244222 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:49244222T>C ENST00000332955.2 - 10 1543 c.996A>G c.(994-996)ggA>ggG p.G332G NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 332 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) GCTCGGCCGCTCCACTGCCAA 0.507000 5 45 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271407 1271407 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:1271407T>C ENST00000447027.1 + 31 13364 c.13306T>C c.(13306-13308)Tcc>Ccc p.S4436P MUC5B_ENST00000529681.1_Missense_Mutation_p.S4433P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4433 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) TACGACTGCGTCCACTGGATC 0.662000 18 171 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115064375 115064375 + Missense_Mutation SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr13:115064375G>C ENST00000375299.3 + 8 963 c.907G>C c.(907-909)Gag>Cag p.E303Q UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.E270Q NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 303 mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) AGAAAGAGGAGAGGAGATTGA 0.502000 4 14 0 0 1 0 0 ELF1 1997 broad.mit.edu 37 13 41556139 41556139 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr13:41556139C>T ENST00000239882.3 - 2 366 c.52G>A c.(52-54)Gtc>Atc p.V18I ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.V18I NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 18 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V18I(1) 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) TCCTCCATGACGTTACTAGCA 0.323000 14 40 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895343 42895343 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr4:42895343C>T ENST00000399770.2 + 1 60 c.60C>T c.(58-60)atC>atT p.I20I NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 20 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GGTTTCGGATCGCGTCCTCTC 0.507000 15 38 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113585 117113585 + Missense_Mutation SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:117113585C>A ENST00000310357.3 - 6 2522 c.2501G>T c.(2500-2502)tGc>tTc p.C834F GPRC6A_ENST00000368549.3_Missense_Mutation_p.C763F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.C659F NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 834 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AATAACATAGCATTTGGGGAT 0.368000 9 38 0.00448238 0.00463117 1 1 0 ZC3H4 23211 broad.mit.edu 37 19 47585484 47585484 + Missense_Mutation SNP G G C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:47585484G>C ENST00000253048.5 - 10 1324 c.1287C>G c.(1285-1287)atC>atG p.I429M ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 429 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AAAATCCAGTGATGTAAAACT 0.458000 9 65 0 0 1 0 0 ATG4A 115201 broad.mit.edu 37 X 107372017 107372017 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chrX:107372017C>G ENST00000372232.3 + 3 287 c.128C>G c.(127-129)tCt>tGt p.S43C ATG4A_ENST00000345734.3_Missense_Mutation_p.S43C|ATG4A_ENST00000372254.3_Intron|ATG4A_ENST00000545696.1_5'UTR NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 43 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 ACAGAAAAATCTAAGCTGTTG 0.299000 27 2 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145058783 145058783 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:145058783C>G ENST00000313028.7 - 5 1481 c.1387G>C c.(1387-1389)Gag>Cag p.E463Q PARP10_ENST00000525773.1_Missense_Mutation_p.E475Q|PARP10_ENST00000524918.1_Missense_Mutation_p.E463Q NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 463 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGAAGGTCCTCATGGTAGAGC 0.602000 29 27 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101705330 101705330 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:101705330G>A ENST00000305352.6 + 2 1165 c.790G>A c.(790-792)Gtc>Atc p.V264I NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 264 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.V264I(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 CGTCCTGAGCGTCTTCATCGC 0.587000 8 137 0 0 1 0 0 ARMC1 55156 broad.mit.edu 37 8 66539524 66539524 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:66539524T>C ENST00000276569.3 - 2 354 c.110A>G c.(109-111)gAt>gGt p.D37G ARMC1_ENST00000458464.2_5'UTR|ARMC1_ENST00000523384.1_5'UTR NM_018120.4 NP_060590.1 Q9NVT9 ARMC1_HUMAN armadillo repeat containing 1 37 metal ion transport metal ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1) 14 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) ACATCCCTGATCCTGGACGAT 0.478000 48 64 0 0 1 0 0 EME2 197342 broad.mit.edu 37 16 1825954 1825954 + Silent SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:1825954C>G ENST00000307394.7 + 7 1131 c.1131C>G c.(1129-1131)gtC>gtG p.V377V EME2_ENST00000568449.1_Silent_p.V312V A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 326 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 ATGCAGTTGTCACAGCCTTCC 0.697000 Direct reversal of damage;Homologous recombination 4 4 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135622802 135622802 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr8:135622802T>C ENST00000520727.1 - 5 808 c.509A>G c.(508-510)cAg>cGg p.Q170R ZFAT_ENST00000520356.1_Missense_Mutation_p.Q170R|ZFAT_ENST00000377838.3_Missense_Mutation_p.Q182R|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q170R|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q170R NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TGAGATCTTCTGGACTTTCTC 0.463000 39 67 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67576026 67576026 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:67576026G>A ENST00000540839.3 + 14 1617 c.1397G>A c.(1396-1398)cGg>cAg p.R466Q CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.R466Q|FAM65A_ENST00000042381.4_Missense_Mutation_p.R446Q|FAM65A_ENST00000379312.3_Missense_Mutation_p.R450Q|FAM65A_ENST00000428437.2_Missense_Mutation_p.R460Q Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 450 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CCCTACAGTCGGACTCTGAGC 0.632000 7 33 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43326463 43326463 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr10:43326463G>A ENST00000374518.5 + 23 3831 c.3768G>A c.(3766-3768)aaG>aaA p.K1256K NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ACCTCAGGAAGAAGCTCTTCA 0.542000 5 7 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107698335 107698335 + Silent SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:107698335C>G ENST00000388781.3 - 24 3404 c.3321G>C c.(3319-3321)ggG>ggC p.G1107G LAMB4_ENST00000388780.3_Silent_p.G1107G|LAMB4_ENST00000205386.4_Silent_p.G1107G NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1107 Laminin EGF-like 12. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGCAACGTTTCCCGCCGTAAC 0.428000 8 17 0 0 1 0 0 KCTD10 83892 broad.mit.edu 37 12 109895442 109895442 + Missense_Mutation SNP A A T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:109895442A>T ENST00000228495.6 - 5 801 c.520T>A c.(520-522)Tat>Aat p.Y174N KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_5'UTR|KCTD10_ENST00000540089.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.Y171N NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 174 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 TACCTGGTATATGAGTATTTG 0.473000 29 34 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561102 145561102 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:145561102C>G ENST00000355594.4 + 10 877 c.790C>G c.(790-792)Cca>Gca p.P264A ANKRD35_ENST00000544626.1_3'UTR NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 264 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATAGGCCTCTCCATCTGAGCC 0.527000 6 12 0 0 1 0 0 CEP85L 387119 broad.mit.edu 37 6 118786692 118786692 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:118786692C>T ENST00000368491.3 - 13 2915 c.2294G>A c.(2293-2295)aGc>aAc p.S765N CEP85L_ENST00000368488.5_Missense_Mutation_p.S768N NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 765 centrosome TGTTTCTGTGCTGTGGTCATT 0.373000 5 77 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9256862 9256862 + Silent SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr18:9256862C>G ENST00000262126.4 + 9 3837 c.3597C>G c.(3595-3597)ctC>ctG p.L1199L ANKRD12_ENST00000383440.2_Silent_p.L1176L|ANKRD12_ENST00000400020.3_Silent_p.L1176L NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AGCCGGGTCTCAGCTCCAGAT 0.418000 8 30 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810816 123810816 + Nonsense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:123810816C>T ENST00000307033.2 + 1 567 c.493C>T c.(493-495)Cag>Tag p.Q165* NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ATTGACTATCCAGCTGCCATT 0.483000 9 89 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89499462 89499462 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:89499462C>T ENST00000336596.2 + 15 2857 c.2632C>T c.(2632-2634)Ctg>Ttg p.L878L EPHA3_ENST00000494014.1_Silent_p.L878L NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 878 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGTTAGTATTCTGGACAAGCT 0.493000 TSP Lung(6;0.00050) 11 39 0 0 1 0 0 TMEM143 55260 broad.mit.edu 37 19 48866578 48866578 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:48866578G>A ENST00000293261.3 - 2 550 c.234C>T c.(232-234)tcC>tcT p.S78S TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000436660.2_Silent_p.S78S|TMEM143_ENST00000377431.2_Silent_p.S78S|TMEM143_ENST00000435956.3_Silent_p.S78S|TMEM143_ENST00000541566.1_Intron NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 78 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GCTGCTCCTTGGAGAAGGGAA 0.657000 5 37 0 0 1 0 0 ZNF277 11179 broad.mit.edu 37 7 111967834 111967834 + Missense_Mutation SNP T T A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr7:111967834T>A ENST00000361822.3 + 6 749 c.620T>A c.(619-621)aTt>aAt p.I207N ZNF277_ENST00000450657.1_Missense_Mutation_p.I207N NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 207 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 CCAGACAACATTGTAAACTGC 0.338000 4 18 0 0 1 0 0 LENG1 79165 broad.mit.edu 37 19 54662076 54662076 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:54662076C>G ENST00000222224.3 - 2 442 c.256G>C c.(256-258)Ggg>Cgg p.G86R NM_024316.1 NP_077292.1 Q96BZ8 LENG1_HUMAN leukocyte receptor cluster (LRC) member 1 86 breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ACTCCTTTCCCTTCCTCCAGC 0.552000 63 50 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32824809 32824809 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:32824809C>G ENST00000421745.2 + 70 13968 c.13834C>G c.(13834-13836)Cta>Gta p.L4612V NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4612 Ubiquitin-conjugating. 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) TATCCAGGTTCTAATAACTGG 0.358000 19 17 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10792179 10792179 + Splice_Site SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:10792179G>A ENST00000361367.2 + 18 2798 c.2372G>A c.(2371-2373)aGa>aAa p.R791K NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 791 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CTTGCACATAGGTAAAGATTT 0.378000 9 73 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53815627 53815627 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:53815627T>C ENST00000288139.4 + 40 4903 c.4785T>C c.(4783-4785)gcT>gcC p.A1595A CACNA1D_ENST00000422281.2_Silent_p.A1560A|CACNA1D_ENST00000540742.1_Silent_p.A467A|CACNA1D_ENST00000350061.5_Silent_p.A1575A NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AACTTCGGGCTGTGATAAAGA 0.453000 11 22 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194158135 194158135 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr3:194158135A>G ENST00000439040.1 - 19 2695 c.1904T>C c.(1903-1905)aTg>aCg p.M635T ATP13A3_ENST00000256031.4_Missense_Mutation_p.M635T Q9H7F0 AT133_HUMAN ATPase type 13A3 635 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AACCACACTCATACGTTGCAA 0.458000 34 57 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66136030 66136030 + Nonsense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr14:66136030C>T ENST00000360689.5 + 7 2394 c.667C>T c.(667-669)Cag>Tag p.Q223* FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000557164.1_Nonsense_Mutation_p.Q60*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.Q223*|FUT8_ENST00000358307.2_Nonsense_Mutation_p.Q94*|FUT8_ENST00000394585.1_Nonsense_Mutation_p.Q223* NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 223 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CTATGGCTGTCAGCTCCATCA 0.463000 8 40 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179593052 179593052 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:179593052A>G ENST00000589042.1 - 67 19723 c.19499T>C c.(19498-19500)aTg>aCg p.M6500T TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M5256T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.M6183T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6183 Ig-like 46. 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) CTTGCACTCCATATGAATAGA 0.383000 25 18 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854213 12854213 + Missense_Mutation SNP C C A rs147163117 TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:12854213C>A ENST00000332296.7 + 3 540 c.437C>A c.(436-438)cCc>cAc p.P146H NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 146 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCACCAGCCCTTAAAGGTG 0.542000 50 234 5.73376e-24 6.54911e-24 1 1 0 ANKRD12 23253 broad.mit.edu 37 18 9254968 9254968 + Nonsense_Mutation SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr18:9254968C>A ENST00000262126.4 + 9 1943 c.1703C>A c.(1702-1704)tCa>tAa p.S568* ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.S545*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.S545* NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ACATGTTTATCACCAGGAAGT 0.333000 10 55 0.000673444 0.000710541 1 1 0 GTPBP2 54676 broad.mit.edu 37 6 43592644 43592644 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:43592644G>A ENST00000307126.5 - 6 860 c.861C>T c.(859-861)gtC>gtT p.V287V GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.V199V NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 287 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TGTTGGCACTGACGAGGAGCA 0.577000 10 38 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325353 158325353 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:158325353C>T ENST00000444681.2 + 2 615 c.322C>T c.(322-324)Cgg>Tgg p.R108W CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R205W|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R207W|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R207W|CD1E_ENST00000368160.3_Missense_Mutation_p.R207W|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.R207W|CD1E_ENST00000368157.1_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 207 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AGAACTGAAACGGAAAGGTGA 0.453000 3 14 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854214 12854214 + Silent SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:12854214C>A ENST00000332296.7 + 3 541 c.438C>A c.(436-438)ccC>ccA p.P146P NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 146 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGCACCAGCCCTTAAAGGTGT 0.547000 51 233 4.09106e-26 4.69436e-26 1 1 0 CNGB1 1258 broad.mit.edu 37 16 57994749 57994749 + Missense_Mutation SNP A A C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:57994749A>C ENST00000564448.1 - 8 589 c.529T>G c.(529-531)Tct>Gct p.S177A CNGB1_ENST00000311183.4_Missense_Mutation_p.S177A|CNGB1_ENST00000251102.8_Missense_Mutation_p.S177A Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 177 Pro-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CTCACCTCAGAGGATTTGGGG 0.637000 3 7 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404638 20404638 + Silent SNP T T G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr14:20404638T>G ENST00000285600.4 + 1 872 c.813T>G c.(811-813)ctT>ctG p.L271L NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ACAAATTTCTTTCTGTGTTCT 0.423000 5 327 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39154682 39154682 + Missense_Mutation SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr12:39154682T>C ENST00000331366.5 - 10 785 c.689A>G c.(688-690)aAa>aGa p.K230R CPNE8_ENST00000360449.3_Missense_Mutation_p.K218R NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 230 C2 2. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) CACCTCTACTTTGATTGTTCT 0.323000 28 68 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427357 119427357 + Nonstop_Mutation SNP A A T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:119427357A>T ENST00000369429.3 - 8 1816 c.1807T>A c.(1807-1809)Taa>Aaa p.*603K TBX15_ENST00000207157.3_Nonstop_Mutation_p.*497K Q96SF7 TBX15_HUMAN T-box 15 0 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) ACTGGCCTTTAAACCATGTGC 0.537000 36 41 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053722 95053722 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr14:95053722G>A ENST00000329597.7 + 3 233 c.23G>A c.(22-24)tGc>tAc p.C8Y SERPINA5_ENST00000554866.1_Missense_Mutation_p.C8Y|SERPINA5_ENST00000553780.1_Missense_Mutation_p.C8Y|SERPINA5_ENST00000554276.1_Missense_Mutation_p.C8Y NM_000624.5 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 8 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CTCCTCTTGTGCCTGGTGCTT 0.597000 8 32 0 0 1 0 0 CSRP3 8048 broad.mit.edu 37 11 19206587 19206587 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:19206587C>G ENST00000533783.1 - 6 660 c.420G>C c.(418-420)tgG>tgC p.W140C CSRP3_ENST00000265968.3_Missense_Mutation_p.W140C NM_003476.4 NP_003467.1 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 (cardiac LIM protein) 140 LIM zinc-binding 2. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 AGGTCTTGTGCCAAGGCTGAG 0.473000 4 21 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74273926 74273926 + Silent SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:74273926C>A ENST00000409262.3 + 1 477 c.477C>A c.(475-477)gtC>gtA p.V159V NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 159 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGTCTGTGGTCATGGAAGGAG 0.647000 8 39 0.00448238 0.00463117 1 1 0 ADRA2B 151 broad.mit.edu 37 2 96780785 96780785 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:96780785G>A ENST00000409345.3 - 1 1199 c.1104C>T c.(1102-1104)ttC>ttT p.F368F NM_000682.5 NP_000673 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 371 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CAGCCAGCACGAAGGTGAAGC 0.642000 6 6 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110302370 110302370 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:110302370C>T ENST00000369805.3 - 4 414 c.185G>A c.(184-186)cGg>cAg p.R62Q EPS8L3_ENST00000361852.4_Missense_Mutation_p.R62Q|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.R62Q NM_139053.2 NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 62 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) GCTCCACACCCGGCCCTGTGC 0.597000 6 40 0 0 1 0 0 PPAPDC3 84814 broad.mit.edu 37 9 134165681 134165681 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr9:134165681C>T ENST00000372264.3 + 1 601 c.297C>T c.(295-297)tgC>tgT p.C99C PPAPDC3_ENST00000372261.1_Silent_p.C99C NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 99 endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) TGGGGGTGTGCGCTGGCCGGG 0.652000 4 86 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3318782 3318782 + Silent SNP G G T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr4:3318782G>T ENST00000336727.3 + 2 1789 c.885G>T c.(883-885)ccG>ccT p.P295P RGS12_ENST00000382788.3_Silent_p.P295P|RGS12_ENST00000543385.1_Silent_p.P295P|RGS12_ENST00000344733.5_Silent_p.P295P NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 295 PID. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCGAGTACCCGGCCGAGAAGC 0.617000 4 35 0.217242 0.218118 1 1 0 PRM2 5620 broad.mit.edu 37 16 11370006 11370006 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:11370006G>A ENST00000435245.2 - 1 331 c.222C>T c.(220-222)tgC>tgT p.C74C PRM2_ENST00000241808.4_Silent_p.C74C|RMI2_ENST00000572173.1_Intron P04554 PRM2_HUMAN protamine 2 74 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding p.0?(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2) 7 TGCGCCTTCTGCAGGAGCGAT 0.652000 9 11 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30409410 30409410 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr16:30409410G>A ENST00000320159.2 + 2 1215 c.839G>A c.(838-840)tGc>tAc p.C280Y NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 TGCACTGATTGCGGCAAGAGG 0.622000 5 16 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057813 27057820 + Frame_Shift_Del DEL ACCACCAC ACCACCAC - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr1:27057813_27057820delACCACCAC ENST00000324856.7 + 3 1892_1899 c.1521_1528delACCACCAC c.(1519-1530)caaccaccacagfs p.QPPQ507fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.QPPQ507fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.QPPQ124fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 507 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CACAGTCTCAACCACCACAGCTCCAGTC 0.615 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 28 125 --- --- --- --- VRK2 7444 broad.mit.edu 37 2 58276063 58276063 + Frame_Shift_Del DEL A A - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:58276063delA ENST00000435505.2 + 5 842 c.97delA c.(97-99)aagfs p.K34fs VRK2_ENST00000412104.2_Frame_Shift_Del_p.K34fs|VRK2_ENST00000340157.4_Frame_Shift_Del_p.K34fs|VRK2_ENST00000417641.2_Frame_Shift_Del_p.K34fs|VRK2_ENST00000440705.2_Frame_Shift_Del_p.K11fs Q86Y07 VRK2_HUMAN vaccinia related kinase 2 34 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 GGTACTGGGCAAGAAGATTGG 0.358 22 22 --- --- --- --- POLR1B 84172 broad.mit.edu 37 2 113332743 113332744 + Frame_Shift_Ins INS - - TGTA TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr2:113332743_113332744insTGTA ENST00000263331.5 + 15 3425_3426 c.2845_2846insTGTA c.(2845-2847)cccfs p.P949fs POLR1B_ENST00000537335.1_Frame_Shift_Ins_p.P738fs|POLR1B_ENST00000409894.3_Frame_Shift_Ins_p.P766fs|POLR1B_ENST00000541869.1_Frame_Shift_Ins_p.P987fs|POLR1B_ENST00000417433.2_Frame_Shift_Ins_p.P893fs NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 949 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 TGATGCTACACCCTTCATCTTC 0.480 14 50 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacacfs p.H529fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 529 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 7 52 --- --- --- --- CNPY3 10695 broad.mit.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr6:42897358_42897360delTGC ENST00000372836.4 + 1 421_423 c.50_52delTGC c.(49-54)ttgctg>ttg p.17_18LL>L CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L NM_006586.3 NP_006577.2 Q9BT09 CNPY3_HUMAN canopy FGF signaling regulator 3 17 innate immune response endoplasmic reticulum p.L25delL(1) central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1) 6 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTTCTTCCCTtgctgctgctgct 0.695 3 3 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505403 125505404 + Frame_Shift_Ins INS - - A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr11:125505403_125505404insA ENST00000534070.1 + 7 948_949 c.693_694insA c.(694-696)aaafs p.K232fs CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K232fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K232fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K232fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K248fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K232fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K232fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 232 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TCAACCCTTGGAAAAAAATCGA 0.381 Other conserved DNA damage response genes 12 238 --- --- --- --- BEGAIN 57596 broad.mit.edu 37 14 101005271 101005273 + In_Frame_Del DEL CCT CCT - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr14:101005271_101005273delCCT ENST00000556751.1 - 5 4027_4029 c.623_625delAGG c.(622-627)gaggcc>gcc p.E208del BEGAIN_ENST00000443071.2_In_Frame_Del_p.E272del|BEGAIN_ENST00000355173.2_In_Frame_Del_p.E272del Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 272 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GCCGCCTCGGCCTCCTCCTCCTC 0.724 3 6 --- --- --- --- PPP1R13B 23368 broad.mit.edu 37 14 104206432 104206432 + Frame_Shift_Del DEL G G - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr14:104206432delG ENST00000202556.9 - 12 2603 c.2321delC c.(2320-2322)cctfs p.P774fs PPP1R13B_ENST00000423488.2_Frame_Shift_Del_p.P193fs|PPP1R13B_ENST00000555391.1_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 774 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GGGCTGGGCAGGGGGGAGCTC 0.597 49 16 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 16004808 16004808 + Frame_Shift_Del DEL C C - rs76080188 TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr17:16004808delC ENST00000268712.3 - 20 2703 c.2446delG c.(2446-2448)gctfs p.A816fs NCOR1_ENST00000395848.1_Frame_Shift_Del_p.A723fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.A832fs NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 816 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GCTTTGGTAGCGGGTGGGGGA 0.493 31 8 --- --- --- --- ANKRD12 23253 broad.mit.edu 37 18 9257318 9257318 + Frame_Shift_Del DEL C C - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr18:9257318delC ENST00000262126.4 + 9 4293 c.4053delC c.(4051-4053)ttcfs p.F1351fs ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.F1328fs|ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.F1328fs NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 CTGAGGTATTCTCAAATGTGC 0.393 14 72 --- --- --- --- MAST1 22983 broad.mit.edu 37 19 12951847 12951847 + Frame_Shift_Del DEL C C - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr19:12951847delC ENST00000251472.4 + 3 254 c.215delC c.(214-216)accfs p.T72fs MAST1_ENST00000591495.1_Frame_Shift_Del_p.T68fs NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 72 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCCCCCAACACCCCCGCCCAC 0.647 40 25 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-147)aaatatfs p.KY48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 8 105 --- --- --- --- MAPK11 5600 broad.mit.edu 37 22 50706337 50706337 + Frame_Shift_Del DEL T T - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2b59a88-8556-47cc-bf94-ff74a009c389 50ba68a5-d463-4687-8d35-f9a1a6e37c1e g.chr22:50706337delT ENST00000330651.6 - 2 258 c.158delA c.(157-159)aagfs p.K54fs MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_5'UTR NM_002751.5 NP_002742.3 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 54 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGACAGCTTCTTCACCGCCAC 0.716 2 4 --- --- --- ---