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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NYAP2 57624 broad.mit.edu 37 2 226516259 226516259 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:226516259C>T uc002voe.2 + 5 2115 c.1940C>T c.(1939-1941)tCa>tTa p.S647L NYAP2_uc010fxa.1_3'UTR|NYAP2_uc002vof.1_Intron NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 647 CAGGTACCATCATCGTTAGCC 0.512000 128 90 0 0 1 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55614817 55614817 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:55614817G>A uc002qix.3 - 3 707 c.691C>T c.(691-693)Ctg>Ttg p.L231L PPP1R12C_uc010yfs.2_Silent_p.L157L|PPP1R12C_uc002qiy.3_Silent_p.L231L NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA. 231 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GCCACGTGCAGGGCAGAGGCG 0.597000 39 11 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888526 38888526 + Missense_Mutation SNP G A A rs143537709 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:38888526G>A uc021wvy.1 - 25 5234 c.5035C>T c.(5035-5037)Cgc>Tgc p.R1679C NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1679 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1679C(2)|p.R1679H(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAGTGGAGGCGATCTTCACTC 0.463000 103 60 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116960716 116960716 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:116960716C>T uc003viz.3 - 1 515 c.215G>A c.(214-216)tGg>tAg p.W72* WNT2_uc003vja.3_5'UTR NM_003391 NP_003382 P09544 WNT2_HUMAN Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA. 72 Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TTCTGCTGTCCACTCGGCCAC 0.592000 30 19 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495390 20495390 + RNA SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:20495390C>T uc001ytf.1 + 4 c.593C>T Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. GAGAAAGTTTCAAGATCTTCT 0.413000 94 16 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43965500 43965500 + Missense_Mutation SNP T G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:43965500T>G uc010yny.2 + 19 3047 c.2964T>G c.(2962-2964)aaT>aaG p.N988K PLEKHH2_uc002rtf.3_Missense_Mutation_p.N987K NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. 988 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTTTATAAATGCTGCAGTTG 0.363000 52 22 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701421 56701421 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:56701421G>A uc010ygh.2 - 3 1263 c.1263C>T c.(1261-1263)gcC>gcT p.A421A NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 421 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGGACTCGTGGGCGAACCGCT 0.567000 39 19 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113670641 113670641 + Missense_Mutation SNP G A A rs145730208 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:113670641G>A uc002tij.3 + 0 94 c.52G>A c.(52-54)Gaa>Aaa p.E18K IL37_uc002tim.3_Missense_Mutation_p.E18K|IL37_uc002tik.3_Missense_Mutation_p.E18K|IL37_uc002til.3_Missense_Mutation_p.E18K|IL37_uc002tin.3_5'Flank NM_014439 NP_055254 Q9NZH6 IL37_HUMAN Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA. 18 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding p.E18K(2) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TGAGGACTGGGAAAAAGATGA 0.438000 39 27 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90499510 90499510 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:90499510G>A uc003pnn.1 - 6 1335 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S MDN1_uc003pnp.1_Missense_Mutation_p.P407S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 407 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACGTCTAAGGGGGCATAGTCA 0.453000 32 25 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532927 113532927 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:113532927C>T uc001tuk.1 + 6 1803 c.1467C>T c.(1465-1467)ttC>ttT p.F489F NM_004416 NP_004407 Q86Y01 DTX1_HUMAN Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA. 489 Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.E488*(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 AGATGGAGTTCCACCTCATCC 0.652000 48 38 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213921659 213921659 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:213921659C>T uc002vem.3 - 3 473 c.304G>A c.(304-306)Gag>Aag p.E102K IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.E49K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E102K|IKZF2_uc002vel.3_Missense_Mutation_p.E49K|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_Intron|IKZF2_uc010fuy.3_Missense_Mutation_p.E102K|IKZF2_uc002ven.3_Missense_Mutation_p.E102K NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ATTCCTCCCTCGCCTTGAAGC 0.512000 49 31 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158300698 158300698 + Silent SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:158300698A>G uc001frx.3 - 1 324 c.216T>C c.(214-216)tcT>tcC p.S72S CD1B_uc001frw.3_Silent_p.S72S|CD1B_uc010pic.1_Silent_p.S72S NM_001764 NP_001755 P29016 CD1B_HUMAN Homo sapiens CD1b molecule (CD1B), mRNA. 72 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AGTTACCTTTAGACCAAGGCT 0.473000 362 65 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43575909 43575909 + Missense_Mutation SNP C A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:43575909C>A uc002ovr.3 - 3 1079 c.907G>T c.(907-909)Gtt>Ttt p.V303F PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 303 Ig-like C2-type 2. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GAGTTACGAACAGAGCAAACA 0.453000 152 102 4.82855e-46 4.95328e-46 1 1 0 CFHR2 3080 broad.mit.edu 37 1 196928040 196928040 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:196928040G>A uc001gtq.1 + 4 720 c.643G>A c.(643-645)Gaa>Aaa p.E215K CFHR2_uc001gtr.1_Missense_Mutation_p.E91K NM_005666 NP_005657 P36980 FHR2_HUMAN Homo sapiens complement factor H-related 2 (CFHR2), mRNA. 215 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 AGAAATTATGGAAAAATATAA 0.284000 121 15 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45632499 45632499 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:45632499G>A uc003tne.4 + 1 799 c.781G>A c.(781-783)Gag>Aag p.E261K ADCY1_uc003tnd.3_Missense_Mutation_p.E36K NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 261 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GGATGAGAACGAGAAGCAGGT 0.607000 39 18 0 0 1 0 0 CXCL5 6374 broad.mit.edu 37 4 74863796 74863796 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:74863796C>T uc003hhk.3 - 2 377 c.259G>A c.(259-261)Ggg>Agg p.G87R NM_002994 NP_002985 P42830 CXCL5_HUMAN Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA. 87 cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction extracellular space chemokine activity endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) ATTTCCTTCCCGTTCTTCAGG 0.433000 25 28 0 0 1 0 0 P2RX7 5027 broad.mit.edu 37 12 121600297 121600297 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:121600297C>T uc001tzm.3 + 4 659 c.507C>T c.(505-507)ccC>ccT p.P169P P2RX7_uc001tzn.3_Silent_p.P79P|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_Intron NM_002562 NP_002553 A8K2Z0 A8K2Z0_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA. 169 integral to membrane ATP binding|ion channel activity|receptor activity p.P169R(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCTGGTGCCCCATCGAGGCAG 0.592000 21 16 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179733897 179733897 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:179733897C>T uc002une.2 - 14 2459 c.2341G>A c.(2341-2343)Gat>Aat p.D781N CCDC141_uc002unf.1_Missense_Mutation_p.D260N NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 206 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCCTCGTAATCCTGGATTCTC 0.418000 44 37 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50534545 50534545 + Missense_Mutation SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:50534545A>G uc001zxz.3 - 11 2243 c.1901T>C c.(1900-1902)aTc>aCc p.I634T HDC_uc001zxy.3_Missense_Mutation_p.I377T|HDC_uc010uff.2_Missense_Mutation_p.I601T NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 634 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GTAGAATTTGATGAGTTTTTT 0.507000 109 63 0 0 1 0 0 TAAR5 9038 broad.mit.edu 37 6 132910399 132910399 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:132910399G>A uc003qdk.2 - 0 479 c.427C>T c.(427-429)Ccc>Tcc p.P143S NM_003967 NP_003958 O14804 TAAR5_HUMAN Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA. 143 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) AACTTGGAGGGATAGAGCAGG 0.547000 35 25 0 0 1 0 0 C1orf49 84066 broad.mit.edu 37 1 178482356 178482356 + Silent SNP A T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:178482356A>T uc001glt.2 + 0 145 c.33A>T c.(31-33)acA>acT p.T11T C1orf49_uc021pfd.1_Silent_p.T11T|C1orf49_uc001glu.1_Silent_p.T11T|C1orf49_uc021pfe.1_Silent_p.T11T|C1orf49_uc001glw.2_Silent_p.T11T|C1orf49_uc001glv.1_Non-coding_Transcript NM_032126 NP_115502 Q5T0J7 CA049_HUMAN Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA. 11 microtubule cytoskeleton breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1) 13 TGAAGAAAACACATCTGGTAA 0.547000 25 12 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59730346 59730346 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:59730346G>A uc001xdz.1 + 1 276 c.151G>A c.(151-153)Gag>Aag p.E51K DAAM1_uc001xea.1_Missense_Mutation_p.E51K|DAAM1_uc001xeb.1_Missense_Mutation_p.E51K|DAAM1_uc001xdy.3_Missense_Mutation_p.E51K NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA. 51 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane Rho GTPase binding|actin binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) GCCCCCTGTGGAGGAGCTGGA 0.502000 53 23 0 0 1 0 0 SLC35C1 55343 broad.mit.edu 37 11 45832452 45832452 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:45832452C>T uc001nbp.3 + 1 1373 c.661C>T c.(661-663)Ccg>Tcg p.P221S SLC35C1_uc001nbo.3_Missense_Mutation_p.P208S|SLC35C1_uc010rgm.2_Missense_Mutation_p.P208S NM_018389 NP_001138738 Q96A29 FUCT1_HUMAN Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA. 221 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GBM - Glioblastoma multiforme(35;0.227) GAAGGTGCTCCCGGCGGTGGA 0.647000 29 25 0 0 1 0 0 MPV17L 255027 broad.mit.edu 37 16 15501843 15501843 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr16:15501843C>T uc002ddn.2 + 3 609 c.465C>T c.(463-465)gtC>gtT p.V155V MPV17L_uc002ddm.2_Silent_p.L132L NM_001128423 NP_001121895 Q2QL34 MP17L_HUMAN Homo sapiens MPV17 mitochondrial membrane protein-like (MPV17L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 155 integral to membrane|peroxisomal membrane kidney(2)|large_intestine(1)|skin(1) 4 ACGCTGGAGTCTGTGGTTTTC 0.498000 31 14 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39672255 39672255 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr21:39672255G>A uc021wjc.1 + 0 1072 c.1072G>A c.(1072-1074)Gag>Aag p.E358K KCNJ15_uc002ywv.3_Missense_Mutation_p.E358K|KCNJ15_uc002yww.3_Missense_Mutation_p.E358K|KCNJ15_uc002ywx.3_Missense_Mutation_p.E358K NM_170737 NP_733933 Q99712 IRK15_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA. 358 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 GTACAGGCAGGAGGATCAGAG 0.468000 71 23 0 0 1 0 0 NBPF7 343505 broad.mit.edu 37 1 120381833 120381833 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:120381833C>T uc010oxk.2 - 4 1433 c.812G>A c.(811-813)tGg>tAg p.W271* NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA. 271 NBPF 1. cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2) 24 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) AGCATCCTGCCATTCATCTTG 0.413000 107 37 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234526430 234526430 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:234526430G>A uc002vup.3 + 0 140 c.77G>A c.(76-78)gGg>gAg p.G26E UGT1A1_uc010zmv.1_Missense_Mutation_p.G26E NM_019076 NP_061949 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA. 28 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GCTGAGGCAGGGAAGCTGCTG 0.582000 58 37 0 0 1 0 0 MAFB 9935 broad.mit.edu 37 20 39316997 39316997 + Missense_Mutation SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:39316997T>C uc002xji.3 - 0 880 c.494A>G c.(493-495)cAt>cGt p.H165R NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB), mRNA. 165 Poly-His. negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(1)|large_intestine(1) 2 Myeloproliferative disorder(115;0.00878) TTGGTGATGATGGTGATGGTG 0.756000 T IGH@ MM 3 6 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140220944 140220944 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:140220944G>A uc003lhs.2 + 0 38 c.38G>A c.(37-39)cGa>cAa p.R13Q PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R13Q NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 0 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATCCTGGCGACTACTACTC 0.512000 64 36 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85331371 85331371 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:85331371C>T uc001dkl.2 - 0 472 c.433G>A c.(433-435)Gtg>Atg p.V145M LPAR3_uc009wcj.1_Missense_Mutation_p.V145M NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA. 145 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 AGCAGTGTCACCCTCTTTTTG 0.537000 224 113 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96799182 96799182 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:96799182G>A uc010yui.2 - 4 437 c.437C>T c.(436-438)tCc>tTc p.S146F NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA. 146 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GGGGATGATGGAAATGAAGTC 0.527000 61 36 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538645 63538645 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:63538645C>T uc011kdm.2 + 3 1397 c.1218C>T c.(1216-1218)acC>acT p.T406T NM_001159522 NP_001152994 A8MUV8 ZN727_HUMAN Homo sapiens zinc finger protein 727 (ZNF727), mRNA. 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 AAAGCTTTACCTGCTCCTCAA 0.398000 17 16 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123964219 123964219 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:123964219G>A uc022bag.1 + 0 469 c.469G>A c.(469-471)Gaa>Aaa p.E157K ZHX2_uc003ypk.1_Missense_Mutation_p.E157K NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 157 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ACAGTCCATCGAAACCACCAA 0.507000 93 39 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107431189 107431189 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:107431189G>A uc004enw.4 - 21 1762 c.1659C>T c.(1657-1659)atC>atT p.I553I COL4A6_uc004env.4_Silent_p.I552I|COL4A6_uc011msn.2_Silent_p.I552I|COL4A6_uc010npk.3_Silent_p.I552I NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 553 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GCATTCCTTGGATTGTACTGA 0.532000 Alport syndrome with Diffuse Leiomyomatosis 25 58 0 0 1 0 0 A4GALT 53947 broad.mit.edu 37 22 43088926 43088926 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:43088926C>T uc003bdb.3 - 2 1293 c.1032G>A c.(1030-1032)acG>acA p.T344T A4GALT_uc021wqo.1_Silent_p.T344T|A4GALT_uc021wqp.1_Silent_p.T344T|A4GALT_uc010gzd.3_Silent_p.T344T|A4GALT_uc021wqq.1_Silent_p.T344T NM_017436 NP_059132 Q9NPC4 A4GAT_HUMAN Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA. 344 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 CCTCGTGCGTCGTGGGGCAGT 0.662000 27 23 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88693758 88693758 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:88693758G>A uc001xwm.3 - 3 764 c.642C>T c.(640-642)atC>atT p.I214I KCNK10_uc001xwn.3_Silent_p.I214I|KCNK10_uc001xwo.3_Silent_p.I209I NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 209 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TTTTCCCAAAGATGGTTCCAA 0.408000 97 58 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767845 105767845 + Missense_Mutation SNP A T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:105767845A>T uc004bbs.2 + 4 1002 c.932A>T c.(931-933)gAa>gTa p.E311V NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 311 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) ACTGAGAAAGAATCTGCTGAT 0.393000 22 6 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155264286 155264286 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:155264286C>T uc001fkb.4 - 5 991 c.952G>A c.(952-954)Gaa>Aaa p.E318K PKLR_uc001fka.4_Missense_Mutation_p.E287K NM_000298 NP_000289 P30613 KPYR_HUMAN Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 318 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) TTCACGCCTTCGTGGTTCTCA 0.582000 56 120 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180044257 180044257 + Missense_Mutation SNP C T T rs148196085 byFrequency TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:180044257C>T uc001gnt.3 + 27 6051 c.5668C>T c.(5668-5670)Cgt>Tgt p.R1890C CEP350_uc009wxl.2_Missense_Mutation_p.R1889C|CEP350_uc001gnv.3_Missense_Mutation_p.R25C NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 1890 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AGCAGAAATTCGTCAAATGGA 0.438000 18 7 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31305313 31305314 + Missense_Mutation DNP CC TT TT TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:31305313_31305314CC>TT uc003jhe.2 + 6 1392_1393 c.1032_1033CC>TT c.(1030-1035)accctt>acTTtt p.L345F CDH6_uc003jhd.2_Missense_Mutation_p.L345F NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 345 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AAGTGTATACCCTTAAAGTGGA 0.455000 56 25 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52141932 52141932 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:52141932G>A uc003pan.1 - 7 1208 c.1098C>T c.(1096-1098)atC>atT p.I366I MCM3_uc011dwu.1_Silent_p.I320I NM_002388 NP_002379 P25205 MCM3_HUMAN Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA. 366 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) CAGTGGTGGGGATAGCTCGGG 0.597000 47 29 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22375890 22375890 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:22375890G>A uc002nqs.1 - 1 376 c.58C>T c.(58-60)Ctg>Ttg p.L20L NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L20M(2) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAAATGATCAGGTCTGGCTTA 0.403000 54 29 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78923611 78923611 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:78923611G>A uc004akc.2 + 27 4112 c.3574G>A c.(3574-3576)Gga>Aga p.G1192R NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 847 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 AACCTGCAATGGATCTGCAAC 0.433000 28 8 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230253102 230253102 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:230253102G>A uc002vpv.3 - 10 1881 c.1734C>T c.(1732-1734)tgC>tgT p.C578C NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 578 EGF-like 9. Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.C578C(2) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGTCAATGTCGCACTCTTCAC 0.502000 68 50 0 0 1 0 0 PIGS 94005 broad.mit.edu 37 17 26883892 26883892 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:26883892G>A uc002hbo.2 - 8 1406 c.1033C>T c.(1033-1035)Cca>Tca p.P345S PIGS_uc002hbn.2_Missense_Mutation_p.P337S|PIGS_uc010wap.1_Missense_Mutation_p.P284S NM_033198 NP_149975 Q96S52 PIGS_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA. 345 C-terminal protein lipidation|attachment of GPI anchor to protein GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) GTGGCCACTGGAGCGCCATCC 0.562000 21 19 0 0 1 0 0 B3GNT2 10678 broad.mit.edu 37 2 62450370 62450370 + Missense_Mutation SNP T G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:62450370T>G uc021vii.1 + 0 1015 c.1015T>G c.(1015-1017)Tgc>Ggc p.C339G B3GNT2_uc002sbs.3_Missense_Mutation_p.C339G NM_006577 NP_006568 Q9NY97 B3GN2_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA. 339 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) TACTGGAATGTGCCTTCAGAA 0.488000 47 37 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428151 10428151 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:10428151C>T uc010coi.3 - 33 5022 c.4894G>A c.(4894-4896)Gaa>Aaa p.E1632K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1632K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1632 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AGCTGGATTTCCATTTCATTG 0.507000 57 58 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81609793 81609793 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:81609793G>A uc001xvd.1 + 9 1547 c.1391G>A c.(1390-1392)gGg>gAg p.G464E NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 464 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.M463V(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TTCTGCATGGGGATGTACCTG 0.542000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 97 56 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26822711 26822711 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:26822711C>T uc010wan.2 + 9 1561 c.1494C>T c.(1492-1494)acC>acT p.T498T SLC13A2_uc010wam.2_Silent_p.T405T|SLC13A2_uc002hbh.3_Silent_p.T449T|SLC13A2_uc010wao.2_Silent_p.T406T|SLC13A2_uc002hbi.3_Silent_p.T378T NM_001145975 NP_001139447 Q13183 S13A2_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA. 449 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) ACAAGCTGACCCCACTGCAGA 0.617000 66 42 0 0 1 0 0 CLSTN1 22883 broad.mit.edu 37 1 9791880 9791880 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:9791880C>T uc001aqh.3 - 16 3261 c.2502G>A c.(2500-2502)ccG>ccA p.P834P CLSTN1_uc001aqi.3_Silent_p.P824P|CLSTN1_uc010oag.2_Silent_p.P815P|CLSTN1_uc001aqf.3_Silent_p.P70P NM_001009566 NP_001009566 O94985 CSTN1_HUMAN Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA. 834 homophilic cell adhesion Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) AGCGGTGTTCCGGGTGCACGA 0.587000 52 20 0 0 1 0 0 ABI3 51225 broad.mit.edu 37 17 47299945 47299945 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:47299945G>A uc002iop.1 + 7 1467 c.969G>A c.(967-969)aaG>aaA p.K323K ABI3_uc002ioq.1_Silent_p.K317K NM_016428 NP_057512 Q9P2A4 ABI3_HUMAN Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA. 323 SH3. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CCAGCCAGAAGGACAATGAGC 0.597000 HNSCC(55;0.14) 38 17 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145947433 145947433 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:145947433G>A uc003zdv.4 - 4 1868 c.1612C>T c.(1612-1614)Ccc>Tcc p.P538S NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 538 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P538P(1) autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCTCCAGTGGGAATCTGTCCA 0.483000 67 35 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94159577 94159577 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:94159577C>T uc011cdt.2 + 7 1439 c.1181C>T c.(1180-1182)cCc>cTc p.P394L GRID2_uc011cdu.2_Missense_Mutation_p.P299L|GRID2_uc010ikz.1_Missense_Mutation_p.P75L NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 394 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGAGGCAATCCCAATGTCCAC 0.403000 29 31 0 0 1 0 0 TIGD6 81789 broad.mit.edu 37 5 149374406 149374406 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:149374406C>T uc003lri.3 - 1 2268 c.1506G>A c.(1504-1506)atG>atA p.M502I TIGD6_uc003lrj.3_Missense_Mutation_p.M502I|TIGD6_uc021yft.1_Missense_Mutation_p.M502I NM_001243253 NP_001230182 Q17RP2 TIGD6_HUMAN Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA. 502 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCACTCTTTTCATTAAATATT 0.313000 22 23 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11364989 11364989 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:11364989G>A uc003jfa.1 - 7 1336 c.1191C>T c.(1189-1191)gcC>gcT p.A397A CTNND2_uc010itt.2_Silent_p.A306A|CTNND2_uc011cmy.1_Silent_p.A60A|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 397 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGCTGTATGAGGCTCGGGAAC 0.493000 26 9 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9609151 9609151 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:9609151C>T uc003wss.3 + 18 2870 c.2865C>T c.(2863-2865)gcC>gcT p.A955A TNKS_uc011kww.2_Silent_p.A718A|TNKS_uc010lrt.1_Non-coding_Transcript NM_003747 NP_003738 O95271 TNKS1_HUMAN Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA. 955 Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) TGATAGATGCCATGCCCCCAG 0.428000 119 69 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52676362 52676362 + Missense_Mutation SNP G T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr13:52676362G>T uc001vge.3 - 9 816 c.676C>A c.(676-678)Ccg>Acg p.P226T NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA. 226 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity p.P225S(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GAAAACCCCGGAGATATTGGG 0.423000 118 63 1.7104e-27 1.74813e-27 1 1 0 C17orf58 284018 broad.mit.edu 37 17 65988212 65988212 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:65988212C>T uc002jgi.4 - 2 426 c.111G>A c.(109-111)agG>agA p.R37R C17orf58_uc002jgj.4_3'UTR NM_181655 NP_858041 Q2M2W7 CQ058_HUMAN Homo sapiens chromosome 17 open reading frame 58 (C17orf58), transcript variant 1, mRNA. 37 lung(2) 2 all_cancers(12;4.57e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) TCACAATATACCTGCTGCCTG 0.473000 64 29 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353965 45353965 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:45353965C>T uc002xsl.3 + 1 387 c.290C>T c.(289-291)tCc>tTc p.S97F NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 97 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CTGGCTGGTTCCCTGGCCTGG 0.632000 82 25 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318098 30318098 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:30318098C>T uc009xle.2 - 2 1116 c.979G>A c.(979-981)Gag>Aag p.E327K KIAA1462_uc001iux.3_Missense_Mutation_p.E327K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E189K NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 327 Pro-rich. 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 AGGCAGAGCTCATGCCTGGGG 0.597000 129 57 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193049065 193049065 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:193049065G>A uc011bsq.2 - 11 1308 c.1308C>T c.(1306-1308)atC>atT p.I436I NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 436 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.L435L(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CGGTGAGGAGGATCAGGGCCA 0.512000 38 22 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157566 154157566 + Missense_Mutation SNP G T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:154157566G>T uc004fmt.3 - 13 4670 c.4499C>A c.(4498-4500)cCg>cAg p.P1500Q NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1500 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GTCTGGTTTCGGGAGAACAGT 0.448000 13 51 3.21987e-24 3.27884e-24 1 1 0 CLEC18B 497190 broad.mit.edu 37 16 74443458 74443458 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr16:74443458G>A uc002fct.3 - 11 1520 c.1320C>T c.(1318-1320)atC>atT p.I440I CLEC18B_uc002fcu.3_Silent_p.I431I NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA. 440 C-type lectin. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAAACTGGCAGATGTAACGGT 0.597000 50 10 0 0 1 0 0 HSPD1 3329 broad.mit.edu 37 2 198355012 198355012 + Missense_Mutation SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:198355012A>G uc002uui.3 - 7 1015 c.878T>C c.(877-879)gTt>gCt p.V293A HSPD1_uc010zgx.2_Missense_Mutation_p.V284A|HSPD1_uc010fsm.3_Missense_Mutation_p.V104A|HSPD1_uc002uuk.3_Missense_Mutation_p.V293A NM_002156 NP_955472 P10809 CH60_HUMAN Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 293 'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) CTGAAGACCAACCTTTAGCCT 0.383000 44 16 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39006788 39006788 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:39006788C>T uc002oit.3 + 64 9746 c.9616C>T c.(9616-9618)Ctg>Ttg p.L3206L RYR1_uc002oiu.3_Silent_p.L3206L|RYR1_uc002oiv.1_Silent_p.L126L|RYR1_uc010xuf.1_Silent_p.L126L NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3206 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGTGGCGTTCCTGGAGCCGCA 0.682000 4 4 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502223 140502223 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:140502223G>A uc003lip.1 + 0 643 c.643G>A c.(643-645)Gat>Aat p.D215N NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 215 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTGGCGCTGGATGGTGGGTC 0.517000 81 39 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56504991 56504991 + Silent SNP T C C rs74519150 byFrequency TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:56504991T>C uc001sjm.3 + 10 1382 c.963T>C c.(961-963)ttT>ttC p.F321F NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA. 321 Necessary for nucleolar localization. cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) AGTTTAAATTTACAGTTCTGC 0.443000 108 5 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75705148 75705148 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:75705148G>A uc002bai.3 - 4 971 c.712C>T c.(712-714)Cct>Tct p.P238S SIN3A_uc002baj.3_Missense_Mutation_p.P238S|SIN3A_uc010uml.2_Missense_Mutation_p.P238S NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. 238 Interaction with REST (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex|nucleolus protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 ggctgggcaggagctggggct 0.572000 41 37 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183811 197183811 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:197183811G>A uc002utm.1 - 8 1986 c.1803C>T c.(1801-1803)ctC>ctT p.L601L HECW2_uc002utl.1_Silent_p.L245L NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 601 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGCCCTGATCGAGAGACTCGG 0.592000 30 23 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35705811 35705811 + Silent SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:35705811A>G uc003ola.3 + 1 279 c.252A>G c.(250-252)gcA>gcG p.A84A FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Silent_p.A57A NM_145028 NP_659465 Q5T9G4 CF081_HUMAN Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA. 57 binding TAGGCCTGGCAGTCGAGCGAG 0.592000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 32 0 0 1 0 0 RSG1 79363 broad.mit.edu 37 1 16560109 16560109 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:16560109G>A uc001ayd.3 - 1 685 c.263C>T c.(262-264)aCc>aTc p.T88I NM_030907 NP_112169 Q9BU20 RSG1_HUMAN Homo sapiens REM2 and RAB-like small GTPase 1 (RSG1), mRNA. 88 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 CCACTCACCGGTGGTCTCGTG 0.622000 65 38 0 0 1 0 0 SIAH2 6478 broad.mit.edu 37 3 150460058 150460058 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:150460058G>A uc003eyi.3 - 1 1472 c.845C>T c.(844-846)tCg>tTg p.S282L NM_005067 NP_005058 O43255 SIAH2_HUMAN Homo sapiens seven in absentia homolog 2 (Drosophila) (SIAH2), mRNA. 282 SBD. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.R281H(1) endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1) 16 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GTCATGAATCGAACGGGGCGT 0.547000 76 11 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45461956 45461956 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:45461956C>T uc003jok.3 - 2 1028 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 335 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ACAACCATTTCATTTAAAGAC 0.398000 28 11 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617672 111617672 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:111617672G>A uc004bdi.3 - 0 604 c.539C>T c.(538-540)tCc>tTc p.S180F NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN Homo sapiens actin-like 7B (ACTL7B), mRNA. 180 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton p.T179M(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CAACGACTGGGACGTCACGTG 0.647000 52 11 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127669886 127669886 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:127669886C>T uc003vmk.3 - 1 945 c.808G>A c.(808-810)Gaa>Aaa p.E270K SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.E270K NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA. 270 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) AAGTTGAGTTCCACAAGTGAA 0.532000 62 49 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43347890 43347890 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:43347890G>A uc002iiw.1 - 11 1968 c.1859C>T c.(1858-1860)tCc>tTc p.S620F MAP3K14_uc002iiu.1_Missense_Mutation_p.S151F|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.S205F NM_003954 NP_003945 Q99558 M3K14_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA. 621 Interaction with ZFP91.|Protein kinase. I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AGGGGCGCAGGAGGGTGGGAT 0.642000 18 10 0 0 1 0 0 SOX10 6663 broad.mit.edu 37 22 38373873 38373874 + Splice_Site DNP CC TT TT TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:38373873_38373874CC>TT uc003aun.1 - 3 975 c.697_splice c.e3+1 p.G233_splice AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Splice_Site_p.G233_splice NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 233 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) TCAGCACTCACCTGAGGGGTGC 0.644000 43 16 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922930 17922930 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:17922930G>A uc002nhl.1 + 2 1265 c.1118G>A c.(1117-1119)tGa>tAa p.*373* B3GNT3_uc010ebd.1_Silent_p.*373*|B3GNT3_uc010ebe.1_Silent_p.*373* NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA. 0 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CAGATCTACTGAGTCAGCATC 0.572000 20 34 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16877063 16877063 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:16877063G>A uc001ioo.3 - 63 10364 c.10312C>T c.(10312-10314)Cat>Tat p.H3438Y NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 3438 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCAAGTGAATGAAAAAAGAGG 0.428000 45 30 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34164422 34164422 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:34164422C>T uc001bxm.1 - 23 4033 c.3856G>A c.(3856-3858)Ggt>Agt p.G1286S CSMD2_uc001bxn.1_Missense_Mutation_p.G1246S|CSMD2_uc001bxo.1_Missense_Mutation_p.G159S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1246 CUB 8. integral to membrane|plasma membrane protein binding p.G1246S(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCTCACTACCCCGCAGGCTG 0.607000 61 18 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74453587 74453587 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:74453587G>A uc003hhd.1 - 4 571 c.448C>T c.(448-450)Cct>Tct p.P150S RASSF6_uc003hhc.1_Missense_Mutation_p.P118S|RASSF6_uc010iik.1_Missense_Mutation_p.P118S|RASSF6_uc010iil.1_Missense_Mutation_p.P106S NM_201431 NP_803876 Q6ZTQ3 RASF6_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA. 150 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TCAGACATAGGAATCTGGGTC 0.373000 29 30 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141708471 141708471 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:141708471G>A uc003vwy.3 + 2 347 c.293G>A c.(292-294)cGa>cAa p.R98Q NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 98 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R98Q(4) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAATTGGAACGAATTAATTGC 0.403000 56 26 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30881671 30881671 + Missense_Mutation SNP T G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:30881671T>G uc001rji.1 - 7 2444 c.1693A>C c.(1693-1695)Att>Ctt p.I565L CAPRIN2_uc001rjf.1_Missense_Mutation_p.I362L|CAPRIN2_uc001rjg.1_Missense_Mutation_p.I232L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.I565L|CAPRIN2_uc001rjk.4_Missense_Mutation_p.I565L|CAPRIN2_uc001rjj.1_Missense_Mutation_p.I232L|CAPRIN2_uc001rjl.4_Missense_Mutation_p.I565L|CAPRIN2_uc001rjm.1_Missense_Mutation_p.I232L|CAPRIN2_uc001rjn.1_Missense_Mutation_p.I232L NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA. 565 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex RNA binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TTTGGAGAAATCTGTGACTGT 0.448000 101 38 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55508782 55508783 + Missense_Mutation DNP CC TT TT TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:55508782_55508783CC>TT uc021vbq.1 + 11 3088_3089 c.2977_2978CC>TT c.(2977-2979)ccc>TTc p.P993F NLRP2_uc010yfp.2_Missense_Mutation_p.P970F|NLRP2_uc002qij.3_Missense_Mutation_p.P993F|NLRP2_uc010esp.3_Missense_Mutation_p.P971F|NLRP2_uc010esn.3_Missense_Mutation_p.P969F|NLRP2_uc010eso.3_Missense_Mutation_p.P990F NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 993 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GGGTCAGAATCCCTTGGGGTCT 0.545000 102 28 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103496791 103496791 + Nonsense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:103496791G>A uc001dum.3 - 4 979 c.661C>T c.(661-663)Cag>Tag p.Q221* COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Nonsense_Mutation_p.Q221*|COL11A1_uc001dun.3_Nonsense_Mutation_p.Q221*|COL11A1_uc009weh.3_Nonsense_Mutation_p.Q221* NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 221 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.Q221K(3) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AAAAACTGCTGAATGTCCCCC 0.403000 24 9 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14749103 14749103 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:14749103G>A uc002mzi.4 - 10 1446 c.1298C>T c.(1297-1299)gCc>gTc p.A433V EMR3_uc010dzp.3_Missense_Mutation_p.A381V|EMR3_uc010xnv.2_Missense_Mutation_p.A307V NM_032571 NP_115960 Q9BY15 EMR3_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA. 433 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.A432A(1) NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 CCAGGTGAAGGCGGCCAGGTA 0.562000 56 16 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230372422 230372422 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:230372422C>T uc010pwa.1 + 5 630 c.558C>T c.(556-558)ctC>ctT p.L186L GALNT2_uc010pvy.1_Silent_p.L148L|GALNT2_uc010pvz.1_Non-coding_Transcript NM_004481 NP_004472 Q10471 GALT2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA. 186 Catalytic subdomain A. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACGGGGCTCTCTTGGGGAAAA 0.408000 61 32 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51729165 51729165 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:51729165G>A uc002pwa.2 + 2 565 c.525G>A c.(523-525)ccG>ccA p.P175P CD33_uc010eos.1_Silent_p.P175P|CD33_uc010eot.1_Silent_p.P48P|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 175 Ig-like C2-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GAACACCCCCGATCTTCTCCT 0.627000 52 34 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960983 73960983 + Nonsense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:73960983G>A uc004eby.3 - 2 4026 c.3409C>T c.(3409-3411)Cag>Tag p.Q1137* NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 1137 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATATGGAACTGAAACTGGTGA 0.413000 15 43 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79361262 79361262 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:79361262G>A uc021yaw.1 + 8 1347 c.1156G>A c.(1156-1158)Gga>Aga p.G386R NM_003248 NP_003239 P35443 TSP4_HUMAN Homo sapiens thrombospondin 4 (THBS4), mRNA. 386 EGF-like 3; calcium-binding (Potential). endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGTCGAAATGGAGCGTGCGT 0.388000 71 26 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28024150 28024150 + Splice_Site SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:28024150C>T uc001ity.4 - 4 727 c.502_splice c.e4+1 p.D168_splice MKX_uc001itx.4_Splice_Site_p.D168_splice NM_173576 NP_775847 Q8IYA7 MKX_HUMAN Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. 168 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 ATTAACAAACCTTCAGAACAT 0.358000 51 28 0 0 1 0 0 CACNG6 59285 broad.mit.edu 37 19 54503006 54503006 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:54503006C>T uc002qct.3 + 2 1115 c.525C>T c.(523-525)gcC>gcT p.A175A CACNG6_uc002qcu.3_Intron|CACNG6_uc002qcv.3_Intron NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA. 175 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) GAGTTGGAGCCGTCTGCTTTG 0.587000 86 59 0 0 1 0 0 LIPH 200879 broad.mit.edu 37 3 185237043 185237043 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:185237043G>A uc003fpm.3 - 5 883 c.773C>T c.(772-774)tCc>tTc p.S258F LIPH_uc010hyh.3_Missense_Mutation_p.S224F NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN Homo sapiens lipase, member H (LIPH), mRNA. 258 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CTCTCTCAGGGAAGACAGGTA 0.463000 81 12 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43508618 43508618 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:43508618G>A uc003tid.1 + 15 3618 c.3013G>A c.(3013-3015)Gac>Aac p.D1005N HECW1_uc011kbi.1_Missense_Mutation_p.D971N NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 1005 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GCACAACCGGGACTTGGTGAA 0.537000 83 69 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28872089 28872089 + Nonsense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:28872089G>A uc003nlr.3 - 7 1659 c.1300C>T c.(1300-1302)Cag>Tag p.Q434* TRIM27_uc003nls.3_Intron|TRIM27_uc003nlt.1_3'UTR NM_006510 NP_006501 P14373 TRI27_HUMAN Homo sapiens tripartite motif containing 27 (TRIM27), mRNA. 434 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CCCACCCGCTGGAGCGGGGTC 0.532000 T RET papillary thyroid 117 51 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70450945 70450945 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:70450945C>T uc002lkw.3 - 6 1120 c.836G>A c.(835-837)cGa>cAa p.R279Q NETO1_uc002lky.2_Missense_Mutation_p.R279Q NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 279 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CATCTGAAATCGGCTGTTTCG 0.453000 102 46 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53986346 53986346 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:53986346C>T uc011dxa.2 + 1 231 c.198C>T c.(196-198)ttC>ttT p.F66F MLIP_uc003pcf.2_Silent_p.F55F|MLIP_uc003pcg.4_Silent_p.F55F|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 55 PML body|nuclear envelope protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CCTCTAAATTCCTTGTTAAAA 0.358000 55 25 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 55 65 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64022912 64022912 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:64022912C>T uc009ypi.3 + 5 639 c.512C>T c.(511-513)cCc>cTc p.P171L PLCB3_uc009ypg.2_Missense_Mutation_p.P171L|PLCB3_uc009yph.2_Missense_Mutation_p.P104L NM_000932 NP_000923 Q01970 PLCB3_HUMAN Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA. 171 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GGTCGGATCCCCGTCAAGAAG 0.607000 100 27 0 0 1 0 0 UBE2Z 65264 broad.mit.edu 37 17 47004478 47004478 + Silent SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:47004478T>C uc002ioi.3 + 6 1182 c.1047T>C c.(1045-1047)caT>caC p.H349H NM_023079 NP_075567 Q9H832 UBE2Z_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2Z (UBE2Z), mRNA. 349 apoptosis cytoplasm|nucleus ATP binding|ubiquitin-protein ligase activity CAGACCTTCATGGGAGCCTGA 0.557000 20 13 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18882973 18882973 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:18882973C>T uc002guw.3 - 3 871 c.704G>A c.(703-705)cGg>cAg p.R235Q SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA. 235 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CCCGCTGCTCCGCACTCTGAG 0.592000 24 36 0 0 1 0 0 C14orf169 79697 broad.mit.edu 37 14 73959321 73959321 + Nonsense_Mutation SNP G T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:73959321G>T uc001xok.1 + 1 1676 c.1597G>T c.(1597-1599)Gaa>Taa p.E533* HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron NM_024644 NP_078920 Q9H6W3 NO66_HUMAN Homo sapiens chromosome 14 open reading frame 169 (C14orf169), mRNA. 534 negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215) GGAGGCTGGAGAACCTGTAAA 0.532000 36 21 1.40151e-16 1.4168e-16 1 1 0 EPS8L1 54869 broad.mit.edu 37 19 55591124 55591124 + Silent SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:55591124T>C uc002qis.4 + 4 288 c.184T>C c.(184-186)Ttg>Ctg p.L62L EPS8L1_uc010ess.1_Silent_p.L44L|EPS8L1_uc010est.1_Silent_p.L62L|EPS8L1_uc010yfr.2_5'UTR|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_5'Flank|EPS8L1_uc002qiv.3_5'Flank|EPS8L1_uc002qiw.3_5'Flank NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA. 62 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CTCCAGGAAGTTGGCCGTCAT 0.632000 22 16 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179440911 179440911 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:179440911G>A uc021vsy.1 - 274 62469 c.62244C>T c.(62242-62244)atC>atT p.I20748I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I14443I|TTN_uc021vta.1_Silent_p.I14376I|TTN_uc021vtb.1_Silent_p.I14251I|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21675 Fibronectin type-III 50. 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) TGATGGCACTGATTCTGAAGT 0.478000 47 22 0 0 1 0 0 KIAA1653 0 broad.mit.edu 37 22 20294126 20294126 + RNA SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:20294126G>A uc002zrw.1 + 0 c.2566G>A Homo sapiens mRNA for KIAA1653 protein, partial cds. TGGGGACCCGGGACTCATGCA 0.642000 10 4 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61827755 61827755 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:61827755G>A uc001jky.3 - 37 12595 c.12257C>T c.(12256-12258)cCa>cTa p.P4086L ANK3_uc001jkw.3_Missense_Mutation_p.P607L|ANK3_uc009xpa.3_Missense_Mutation_p.P607L|ANK3_uc001jkx.3_Missense_Mutation_p.P651L|ANK3_uc010qih.2_Missense_Mutation_p.P1474L|ANK3_uc001jkz.4_Missense_Mutation_p.P1467L|ANK3_uc001jkv.3_Missense_Mutation_p.P6L|ANK3_uc009xpb.1_Non-coding_Transcript NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 4086 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCGTTCACATGGACTCTGTGG 0.383000 70 29 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161481 43161481 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr21:43161481G>A uc002yzn.1 - 7 1920 c.1872C>T c.(1870-1872)atC>atT p.I624I NM_020639 NP_065690 Q96T11 Q96T11_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA. 624 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.I624M(2) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AGCACAGGTCGATGAGGATGC 0.692000 107 49 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25568558 25568558 + Silent SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:25568558A>G uc002kwg.2 - 10 2130 c.1671T>C c.(1669-1671)gcT>gcC p.A557A CDH2_uc010xbn.1_Silent_p.A526A NM_001792 NP_001783 P19022 CADH2_HUMAN Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA. 557 Cadherin 4. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GGTCCAAAACAGCAATTGTAG 0.323000 24 20 0 0 1 0 0 EBLN2 55096 broad.mit.edu 37 3 73111848 73111848 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:73111848C>T uc003dpj.3 + 0 1039 c.616C>T c.(616-618)Ctc>Ttc p.L206F PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron NM_018029 NP_060499 Q6P2I7 EBLN2_HUMAN Homo sapiens endogenous Bornavirus-like nucleoprotein 2 (EBLN2), mRNA. 206 protein binding endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 CACCAGCAGTCTCCAAGTTCA 0.458000 54 40 0 0 1 0 0 PRM2 5620 broad.mit.edu 37 16 11369782 11369782 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr16:11369782C>T uc002dau.1 - 1 394 c.284G>A c.(283-285)aGg>aAg p.R95K RMI2_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank NM_002762 NP_002753 P04554 PRM2_HUMAN Homo sapiens protamine 2 (PRM2), mRNA. 95 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding p.0?(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2) 7 TGTTCTCTTCCTGGTTCTGCA 0.547000 20 11 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764720 82764720 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:82764720G>A uc003uhx.2 - 2 2435 c.2146C>T c.(2146-2148)Cct>Tct p.P716S PCLO_uc003uhv.2_Missense_Mutation_p.P716S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 662 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGGCTGAAGGAGAGCCATGA 0.547000 58 30 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204045234 204045234 + Splice_Site SNP T G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:204045234T>G uc002uzt.3 + 42 6841 c.6508_splice c.e42+1 p.Q2170_splice NBEAL1_uc021vvj.1_Splice_Site_p.Q873_splice NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 2170 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 AAAATCAAAATCGTAAGAAAT 0.338000 25 13 0 0 1 0 0 TMEM208 29100 broad.mit.edu 37 16 67262476 67262476 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr16:67262476G>A uc002esi.2 + 3 347 c.241G>A c.(241-243)Gag>Aag p.E81K LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript NM_014187 NP_054906 Q9BTX3 TM208_HUMAN Homo sapiens transmembrane protein 208 (TMEM208), mRNA. 81 integral to membrane breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) AGCGTTCTCTGAGGATGGGGC 0.617000 12 6 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15894599 15894599 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:15894599C>T uc001aws.3 + 14 2396 c.2276C>T c.(2275-2277)tCt>tTt p.S759F DNAJC16_uc001awt.3_Missense_Mutation_p.S447F|DNAJC16_uc001awu.3_Non-coding_Transcript NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA. 759 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AGCAAGCTCTCTTTATGGATG 0.488000 57 34 0 0 1 0 0 RRM2 6241 broad.mit.edu 37 2 10269209 10269209 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:10269209G>A uc021vdr.1 + 8 1176 c.1125G>A c.(1123-1125)atG>atA p.M375I NM_001034 NP_001159403 P31350 RIR2_HUMAN Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA. 315 DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) TCATTGGGATGAATTGCACTC 0.418000 43 54 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 61924338 61924338 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:61924338C>T uc001xfn.3 + 8 1524 c.1219C>T c.(1219-1221)Ctg>Ttg p.L407L PRKCH_uc010tsa.2_Silent_p.L246L NM_006255 NP_006246 P24723 KPCL_HUMAN Homo sapiens protein kinase C, eta (PRKCH), mRNA. 407 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GAAAAGGATCCTGTCTCTGGC 0.488000 149 78 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672737 141672737 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:141672737G>A uc003vwx.1 - 0 837 c.753C>T c.(751-753)tcC>tcT p.S251S NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 251 sensory perception of taste integral to membrane G-protein coupled receptor activity p.V250I(1) NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) AGCAGAAAAAGGAGACAAGAG 0.502000 93 46 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56729236 56729236 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:56729236G>A uc010dcz.2 - 1 245 c.127C>T c.(127-129)Ctt>Ttt p.L43F TEX14_uc002iwr.2_Missense_Mutation_p.L43F|TEX14_uc002iws.2_Missense_Mutation_p.L43F|TEX14_uc010dda.2_5'UTR NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 43 cytoplasm ATP binding|protein kinase activity p.L43I(3) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTTTCTTAAGAATTTTCTTC 0.413000 77 39 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 886159 886159 + Missense_Mutation SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:886159A>G uc002lqd.1 - 4 641 c.490T>C c.(490-492)Ttc>Ctc p.F164L MED16_uc010drw.2_5'UTR|MED16_uc002lqe.3_Missense_Mutation_p.F153L|MED16_uc002lqf.3_Missense_Mutation_p.F153L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.F153L|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN Homo sapiens mediator complex subunit 16 (MED16), mRNA. 164 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 receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACGGTGAGAACTTGACTCGG 0.682000 18 11 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117708985 117708985 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:117708985C>T uc003pxp.1 - 12 2171 c.1972G>A c.(1972-1974)Ggc>Agc p.G658S ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 658 Fibronectin type-III 3. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GACCAGGGGCCTGGCCTCTTT 0.478000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 52 51 0 0 1 0 0 FYTTD1 84248 broad.mit.edu 37 3 197508692 197508692 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:197508692C>T uc003fyi.2 + 8 1088 c.869C>T c.(868-870)aCg>aTg p.T290M FYTTD1_uc011bui.1_Missense_Mutation_p.T264M|FYTTD1_uc011buj.1_Non-coding_Transcript|FYTTD1_uc011buk.1_Missense_Mutation_p.T223M NM_032288 NP_115664 Q96QD9 UIF_HUMAN Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA. 290 mRNA export from nucleus nuclear speck mRNA binding|protein binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) ACAGGGATGACGTTGAATGAG 0.418000 23 16 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398311 10398311 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:10398311C>T uc002gmo.3 - 36 5497 c.5403G>A c.(5401-5403)ctG>ctA p.L1801L AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1801 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.R1800H(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CAGCCTCATCCAGACGATGCT 0.547000 46 79 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19380941 19380941 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:19380941C>T uc022btq.1 - 25 3594 c.3594G>A c.(3592-3594)gaG>gaA p.E1198E MAP3K15_uc004czj.2_Silent_p.E633E|MAP3K15_uc004czk.2_Silent_p.E673E|MAP3K15_uc004czi.2_Silent_p.E132E NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 1198 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GGTACTCTCTCTCTTTTTCAA 0.328000 22 61 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60742008 60742008 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:60742008C>T uc002jad.3 + 1 620 c.218C>T c.(217-219)cCt>cTt p.P73L Y_RNA_uc021ubi.1_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 73 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 ACCAGCCTCCCTGCCCAGCGC 0.647000 61 43 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52257747 52257747 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:52257747G>A uc003ddb.3 - 4 1086 c.876C>T c.(874-876)ctC>ctT p.L292L TLR9_uc003dda.2_Silent_p.L195L NM_017442 NP_059138 Q9NR96 TLR9_HUMAN Homo sapiens toll-like receptor 9 (TLR9), mRNA. 195 I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CCAGGCCAAGGAGGGCACCCG 0.612000 59 37 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184009960 184009960 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:184009960C>T uc003fni.4 + 18 2624 c.2586C>T c.(2584-2586)ttC>ttT p.F862F ECE2_uc003fnl.4_Silent_p.F790F|ECE2_uc003fnm.4_Silent_p.F744F|ECE2_uc003fnk.4_Silent_p.F715F NM_014693 NP_055508 O60344 ECE2_HUMAN Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA. 862 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing Golgi membrane|cytoplasmic vesicle membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCGTGACTTCCTGCGGCACT 0.662000 41 18 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38079395 38079395 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:38079395C>T uc001cbl.2 - 6 1498 c.606G>A c.(604-606)agG>agA p.R202R RSPO1_uc009vvf.2_Silent_p.R175R|RSPO1_uc001cbm.2_Silent_p.R202R|RSPO1_uc009vvg.2_Intron NM_001038633 NP_001229837 Q2MKA7 RSPO1_HUMAN Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA. 202 TSP type-1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACGGCACTCTCCTCACTGTGC 0.667000 31 10 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21971084 21971084 + Splice_Site SNP C G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:21971084C>G uc001rfh.3 - 30 3791 c.3771_splice c.e30+1 p.T1257_splice ABCC9_uc001rfi.1_Splice_Site_p.T1257_splice NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1257 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.T1257T(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCATACCTACCGTAAGTGCAT 0.418000 89 31 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785936 111785936 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:111785936C>T uc001tsa.2 + 21 4422 c.4268C>T c.(4267-4269)tCc>tTc p.S1423F NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1423 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S1423S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 ATCTCCCCATCCCCACCTGGC 0.652000 72 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542513 179542513 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:179542513C>T uc021vsy.1 - 142 30619 c.30394G>A c.(30394-30396)Gaa>Aaa p.E10132K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6793K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11059 Glu-rich. 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) GGTAGAACTTCCTCTTCCTCA 0.438000 80 47 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761907 130761907 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:130761907C>T uc003qcb.3 + 1 2718 c.340C>T c.(340-342)Cgc>Tgc p.R114C TMEM200A_uc003qca.3_Missense_Mutation_p.R114C|TMEM200A_uc010kfh.3_Missense_Mutation_p.R114C|TMEM200A_uc010kfi.3_Missense_Mutation_p.R114C|TMEM200A_uc021zfg.1_Missense_Mutation_p.R114C NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 114 integral to membrane p.R114H(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TGTGGTGGTTCGCTTCTTTGA 0.408000 36 36 0 0 1 0 0 DL492607 0 broad.mit.edu 37 11 113661650 113661650 + RNA SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:113661650C>T uc001pof.1 + 0 c.1698C>T Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4. TGCCATGATCCCTCAGTGCAT 0.502000 32 11 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672471 186672471 + Silent SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:186672471T>C uc002upl.3 + 16 18705 c.18705T>C c.(18703-18705)gtT>gtC p.V6235V FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GTGTGGAAGTTGAAAACATCG 0.393000 42 45 0 0 1 0 0 UPP1 7378 broad.mit.edu 37 7 48146999 48146999 + Missense_Mutation SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:48146999A>G uc003toj.3 + 8 1217 c.688A>G c.(688-690)Aag>Gag p.K230E UPP1_uc003tok.3_Missense_Mutation_p.K230E|UPP1_uc003tol.3_Missense_Mutation_p.K230E|UPP1_uc011kch.2_Missense_Mutation_p.K23E|UPP1_uc003ton.3_Missense_Mutation_p.K93E NM_181597 NP_853628 Q16831 UPP1_HUMAN Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA. 230 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 CTACACGGAGAAGGACAAGCA 0.592000 56 47 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986578 51986578 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:51986578C>T uc002pwv.1 + 4 1164 c.1164C>T c.(1162-1164)tgC>tgT p.C388C NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 388 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGGCTCATGCTTTGCACATC 0.592000 25 21 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12976590 12976590 + Missense_Mutation SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:12976590T>C uc002mvm.3 + 15 1992 c.1864T>C c.(1864-1866)Tcc>Ccc p.S622P NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 622 Protein kinase. 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 ACTCCTCATATCCAGCCTCCT 0.577000 44 14 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3028268 3028268 + Silent SNP C T T rs144086355 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:3028268C>T uc022brz.1 + 9 1501 c.1365C>T c.(1363-1365)gcC>gcT p.A455A ARSF_uc004cre.2_Silent_p.A455A|ARSF_uc004crf.2_Silent_p.A455A NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 455 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACCTGCACGCCGTGCGGTGGA 0.582000 30 42 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29296428 29296429 + Missense_Mutation DNP CC TA TA TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:29296428_29296429CC>TA uc002rmt.2 - 0 699_700 c.699_700GG>TA c.(697-702)ttgggg>ttTAgg p.233_234LG>FR NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 233 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GAGATCTCCCCCAACAGCTGGC 0.564000 71 21 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195594947 195594947 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:195594947G>A uc003fvu.1 - 11 2720 c.2177C>T c.(2176-2178)gCc>gTc p.A726V TNK2_uc003fvq.1_Missense_Mutation_p.A133V|TNK2_uc003fvr.1_Missense_Mutation_p.A251V|TNK2_uc003fvs.1_Missense_Mutation_p.A758V|TNK2_uc003fvt.1_Missense_Mutation_p.A804V|TNK2_uc010hzw.1_Non-coding_Transcript NM_005781 NP_005772 Q07912 ACK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA. 726 Pro-rich. Missing (in Ref. 4; AAH08884). 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) GGGAGAGGGGGCCGGGGAGCC 0.721000 8 7 0 0 1 0 0 CAMKV 79012 broad.mit.edu 37 3 49898218 49898218 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:49898218G>A uc003cxt.1 - 7 899 c.706C>T c.(706-708)Ctc>Ttc p.L236F CAMKV_uc011bcy.1_Missense_Mutation_p.L161F|CAMKV_uc003cxv.1_Missense_Mutation_p.L208F|CAMKV_uc003cxw.1_Missense_Mutation_p.L68F|CAMKV_uc003cxx.1_Missense_Mutation_p.L68F|CAMKV_uc003cxu.2_Missense_Mutation_p.L236F|CAMKV_uc011bcz.1_Missense_Mutation_p.L199F|CAMKV_uc011bda.1_Missense_Mutation_p.L193F|CAMKV_uc011bdb.1_Non-coding_Transcript NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA. 236 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TTGCGGAAGAGATTCTTATCA 0.498000 129 62 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47711663 47711663 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:47711663G>A uc001ngg.3 - 9 1898 c.1596C>T c.(1594-1596)ttC>ttT p.F532F AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Silent_p.F494F|AGBL2_uc001ngh.1_Silent_p.F476F NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA. 532 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 AAATACAAGGGAAAGACTCCT 0.428000 57 17 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154744645 154744645 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:154744645G>A uc021pah.1 - 2 1568 c.1254C>T c.(1252-1254)atC>atT p.I418I KCNN3_uc001ffo.3_Silent_p.I113I|KCNN3_uc001ffp.3_Silent_p.I418I|KCNN3_uc009wox.1_Silent_p.I418I NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 423 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TGACTCGGGCGATCAGGTACA 0.602000 109 23 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5067968 5067968 + Silent SNP T A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:5067968T>A uc010qyv.2 + 0 213 c.213T>A c.(211-213)atT>atA p.I71I NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTCCACTATTGATTTGGCCC 0.493000 48 12 0 0 1 0 0 PRAMEF8 391002 broad.mit.edu 37 1 12979762 12979762 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:12979762C>T uc001aup.3 + 3 1037 c.954C>T c.(952-954)atC>atT p.I318I NM_001012276 NP_001012277 Q5VWM4 PRAM8_HUMAN Homo sapiens PRAME family member 8 (PRAMEF8), mRNA. 318 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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) GCCCGAGCATCCGTCAATTAA 0.582000 137 49 0 0 1 0 0 PXN 5829 broad.mit.edu 37 12 120657891 120657891 + RNA SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:120657891T>C uc001tya.3 - 0 c.30A>G PXN_uc001txu.3_5'Flank|PXN_uc001txx.3_Intron|PXN_uc001txt.3_Intron|PXN_uc001txv.3_Intron|PXN_uc001txy.3_Intron|PXN_uc001txz.3_Non-coding_Transcript P49023 PAXI_HUMAN Homo sapiens cDNA: FLJ23042 fis, clone LNG02323. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGGAGGAGCTGGTCTGGAGA 0.612000 11 5 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38163216 38163216 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:38163216G>A uc003chp.1 + 34 4985 c.4964G>A c.(4963-4965)cGg>cAg p.R1655Q DLEC1_uc003cho.1_Missense_Mutation_p.R1655Q|DLEC1_uc010hgv.1_Missense_Mutation_p.R1658Q|DLEC1_uc003chr.1_Missense_Mutation_p.R726Q|DLEC1_uc003chs.1_Missense_Mutation_p.R212Q NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 1655 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CAGCGAGTCCGGGAGGTCTAC 0.632000 37 14 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862259 5862259 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:5862259G>A uc010qzq.2 - 0 869 c.869C>T c.(868-870)cCt>cTt p.P290L TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P289S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATAGATTACAGGATTGAGGGT 0.413000 24 31 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69692192 69692192 + Nonsense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:69692192G>A uc003hee.3 + 3 1089 c.1064G>A c.(1063-1065)tGg>tAg p.W355* UGT2B10_uc011cam.2_Nonsense_Mutation_p.W271* NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 355 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CTGTACAAGTGGATACCCCAG 0.393000 33 38 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203591027 203591027 + Nonsense_Mutation SNP C T T rs61740247 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:203591027C>T uc010zhx.2 + 3 911 c.901C>T c.(901-903)Cga>Tga p.R301* NM_173511 NP_775782 Q6P1L5 F117B_HUMAN Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA. 301 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 TCGGCATCATCGAGATAAAGA 0.403000 66 17 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415789 86415789 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:86415789C>T uc003uid.3 + 2 1780 c.681C>T c.(679-681)atC>atT p.I227I GRM3_uc010lef.3_Silent_p.I225I|GRM3_uc010leg.3_Silent_p.I99I|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 227 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) AGACAGGGATCGAGGCCTTCG 0.597000 67 50 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183522201 183522201 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:183522201G>A uc003ivd.1 + 2 711 c.636G>A c.(634-636)agG>agA p.R212R ODZ3_uc021xux.1_Silent_p.R119R NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 212 Teneurin N-terminal. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCAATAGAAGGAACCAGAGTC 0.587000 48 47 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20871992 20871992 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:20871992G>A uc001vxe.3 - 5 1124 c.1084C>T c.(1084-1086)Cgt>Tgt p.R362C TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Intron NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 362 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ATGGCAGTACGGAGACAGGCG 0.582000 87 40 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060344 16060344 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:16060344A>C uc010xov.2 + 0 527 c.527A>C c.(526-528)cAc>cCc p.H176P NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 AATGTGATCCACCATTTTTTC 0.498000 118 42 0 0 1 0 0 LAMP3 27074 broad.mit.edu 37 3 182871567 182871567 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:182871567G>A uc003flh.4 - 1 886 c.662C>T c.(661-663)tCg>tTg p.S221L NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA. 221 cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) CTTGACTGACGATGGCTGAGG 0.547000 89 47 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165173242 165173242 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:165173242C>T uc001gcz.2 - 8 1218 c.1024G>A c.(1024-1026)Gac>Aac p.D342N LMX1A_uc021pdz.1_Missense_Mutation_p.D342N|LMX1A_uc021pdy.1_Missense_Mutation_p.D93N|LMX1A_uc001gcw.2_Missense_Mutation_p.D60N NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 342 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D342N(2)|p.D341N(1) NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) AGGGAGGTGTCGTCGCTATCC 0.512000 77 30 0 0 1 0 0 CD8A 925 broad.mit.edu 37 2 87016468 87016468 + Silent SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:87016468A>C uc002srt.3 - 3 1492 c.603T>G c.(601-603)gtT>gtG p.V201V RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Silent_p.V201V|CD8A_uc010ytn.2_Silent_p.V242V|CD8A_uc002sru.3_Intron NM_001768 NP_001759 P01732 CD8A_HUMAN Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA. 201 antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway T cell receptor complex|extracellular region|integral to plasma membrane MHC class I protein binding|coreceptor activity lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 AAAGGGTGATAACCAGTGACA 0.617000 58 25 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90280815 90280815 + Missense_Mutation SNP T A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:90280815T>A uc002boj.3 + 14 1721 c.1620T>A c.(1618-1620)ttT>ttA p.F540L WDR93_uc010bnr.3_Missense_Mutation_p.F512L|WDR93_uc010upz.2_Missense_Mutation_p.F257L NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 540 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TGCTCATCTTTTCCAAGAATG 0.552000 89 62 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191876 66191876 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:66191876C>T uc001ohx.1 + 6 1691 c.1515C>T c.(1513-1515)acC>acT p.T505T NPAS4_uc010rpc.1_Silent_p.T295T NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 505 transcription, DNA-dependent DNA binding|signal transducer activity p.T505I(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTCCCTGCACCTCCACCTTCC 0.587000 171 116 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150789286 150789286 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:150789286G>A uc001evr.2 - 17 1981 c.1780C>T c.(1780-1782)Ccc>Tcc p.P594S ARNT_uc010pck.2_Missense_Mutation_p.P83S|ARNT_uc001evs.2_Missense_Mutation_p.P579S|ARNT_uc009wmd.2_Missense_Mutation_p.P579S|ARNT_uc009wmb.2_Missense_Mutation_p.P580S|ARNT_uc009wmc.2_Missense_Mutation_p.P594S NM_001668 NP_001659 P27540 ARNT_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA. 594 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GCCGGCCGGGGGGTAGGAGGG 0.527000 T ETV6 AML 105 27 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70926736 70926736 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:70926736C>T uc003pfg.4 - 37 2789 c.2630G>A c.(2629-2631)cGa>cAa p.R877Q COL9A1_uc003pfe.4_Missense_Mutation_p.R426Q|COL9A1_uc003pff.4_Missense_Mutation_p.R634Q NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 877 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TGGGGGGCCTCGCTCACCGTC 0.607000 12 20 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40395860 40395860 + Missense_Mutation SNP T G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:40395860T>G uc002omp.4 - 14 7545 c.7537A>C c.(7537-7539)Acg>Ccg p.T2513P NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 2513 VWFD 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACCTGGACCGTGATCACCCTG 0.652000 107 18 0 0 1 0 0 SCN1B 6324 broad.mit.edu 37 19 35523450 35523450 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:35523450G>A uc002nxo.2 + 1 192 c.59G>A c.(58-60)gGc>gAc p.G20D SCN1B_uc002nxp.3_Missense_Mutation_p.G20D|SCN1B_uc010xsg.2_Missense_Mutation_p.G20D NM_199037 NP_950238 Q07699 SCN1B_HUMAN Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA. 20 axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity p.G19R(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCCTGCGGGGGCTGCGTGGAG 0.607000 55 31 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50857568 50857568 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:50857568G>A uc001jhz.2 + 9 1550 c.1397G>A c.(1396-1398)aGg>aAg p.R466K CHAT_uc001jhv.1_Missense_Mutation_p.R348K|CHAT_uc001jhx.1_Missense_Mutation_p.R348K|CHAT_uc001jhy.1_Missense_Mutation_p.R348K|CHAT_uc001jia.2_Missense_Mutation_p.R384K|CHAT_uc010qgs.1_Missense_Mutation_p.R348K NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 466 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CAGAGCAGCAGGAAGCTGATC 0.622000 43 21 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11666799 11666799 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:11666799G>A uc002gne.3 + 35 7106 c.7038G>A c.(7036-7038)caG>caA p.Q2346Q DNAH9_uc010coo.3_Silent_p.Q1640Q NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2346 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCATGGTTCAGATGGTGTGTC 0.483000 40 54 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181104 57181105 + Missense_Mutation DNP CC TT TT TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:57181104_57181105CC>TT uc003hbk.2 + 7 1827_1828 c.1436_1437CC>TT c.(1435-1437)ccc>cTT p.P479L KIAA1211_uc010iha.2_Missense_Mutation_p.P472L|KIAA1211_uc011bzz.1_Missense_Mutation_p.P389L|KIAA1211_uc003hbm.1_Missense_Mutation_p.P365L NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 479 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CGTCCTGGGCCCGAGGAAAAGA 0.653000 1 3 0 0 1 0 0 GMCL1P1 64396 broad.mit.edu 37 5 177612955 177612955 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:177612955C>T uc003mit.1 - 0 1479 c.1346G>A c.(1345-1347)cGa>cAa p.R449Q Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA. TATGCTCCTTCGAGGCCGTAA 0.393000 36 11 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890185 139890185 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:139890185C>T uc003yvd.3 - 2 913 c.466G>A c.(466-468)Gac>Aac p.D156N NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 156 VWFA. cell adhesion collagen|cytoplasm structural molecule activity p.D156E(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGCACCAGGTCCTGGCTGCGG 0.721000 HNSCC(7;0.00092) 8 5 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178634626 178634626 + Missense_Mutation SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:178634626T>C uc003mjw.3 - 3 881 c.779A>G c.(778-780)cAt>cGt p.H260R ADAMTS2_uc011dgm.2_Missense_Mutation_p.H260R NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 260 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTCCGCAGCATGCCTGCGTGC 0.642000 89 52 0 0 1 0 0 TMIGD2 126259 broad.mit.edu 37 19 4298091 4298091 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:4298091C>T uc002lzx.2 - 1 344 c.298G>A c.(298-300)Gac>Aac p.D100N TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Missense_Mutation_p.D100N NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA. 100 Ig-like. integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CTCACAGGGTCCAGCTGCAGG 0.637000 28 61 0 0 1 0 0 SLC22A17 51310 broad.mit.edu 37 14 23817427 23817427 + Nonsense_Mutation SNP C A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:23817427C>A uc001wjl.3 - 4 1018 c.781G>T c.(781-783)Gag>Tag p.E261* SLC22A17_uc010akk.3_Nonsense_Mutation_p.E43*|SLC22A17_uc001wjm.3_Nonsense_Mutation_p.E261*|SLC22A17_uc001wjn.3_Non-coding_Transcript NM_020372 NP_065105 Q8WUG5 S22AH_HUMAN Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA. 261 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) CGGTTTCGCTCAGCCAGGATC 0.632000 53 35 8.73648e-17 8.84787e-17 1 1 0 LRP12 29967 broad.mit.edu 37 8 105509456 105509456 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:105509456C>T uc003yma.3 - 4 1451 c.1324G>A c.(1324-1326)Ggc>Agc p.G442S LRP12_uc003ymb.3_Missense_Mutation_p.G423S|LRP12_uc003ylz.3_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA. 442 LDL-receptor class A 4. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCATCTGAGCCATTTGGGCAA 0.403000 80 42 0 0 1 0 0 CDRT15P1 94158 broad.mit.edu 37 17 13927886 13927886 + RNA SNP G A A rs11649821 by1000genomes TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:13927886G>A uc002god.1 + 0 c.72G>A Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA. AACGGAGGGAGTGAGAGCCTT 0.562000 35 4 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42800254 42800254 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:42800254C>T uc002ihf.3 + 2 302 c.89C>T c.(88-90)tCc>tTc p.S30F DBF4B_uc002ihd.2_Missense_Mutation_p.S30F|DBF4B_uc010wjb.1_Non-coding_Transcript|DBF4B_uc002ihe.3_5'UTR|DBF4B_uc010wjc.2_Missense_Mutation_p.S30F|DBF4B_uc002ihg.3_Missense_Mutation_p.S14F NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA. 30 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) CTAGGAGTTTCCAGGTGTCTA 0.468000 74 31 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42132129 42132129 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:42132129G>A uc010xwd.1 - 1 381 c.270C>T c.(268-270)atC>atT p.I90I CEACAM4_uc002orh.1_Silent_p.I90I NM_001817 NP_001808 O75871 CEAM4_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA. 90 Ig-like V-type. integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CGGCCCCTGGGATATTTGCTT 0.478000 141 33 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28224012 28224012 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:28224012C>T uc009xky.3 - 15 2520 c.2422G>A c.(2422-2424)Gga>Aga p.G808R ARMC4_uc010qds.2_Missense_Mutation_p.G333R|ARMC4_uc010qdt.2_Missense_Mutation_p.G500R|ARMC4_uc001itz.3_Missense_Mutation_p.G808R NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 808 binding p.G808R(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TGGTTTATTCCAACAAGGAGG 0.458000 115 50 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919887 12919887 + Missense_Mutation SNP G T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:12919887G>T uc001aum.1 + 2 714 c.627G>T c.(625-627)gaG>gaT p.E209D NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 209 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTATTGGGGAGCTGGAAATTC 0.383000 161 77 9.12251e-31 9.34092e-31 1 1 0 ELP3 55140 broad.mit.edu 37 8 27989810 27989810 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:27989810G>A uc003xgo.4 + 8 943 c.795G>A c.(793-795)aaG>aaA p.K265K ELP3_uc003xgn.4_Silent_p.K250K|ELP3_uc011las.2_Silent_p.K146K|ELP3_uc011lat.2_Silent_p.K146K|ELP3_uc011laq.2_Silent_p.K193K|ELP3_uc011lar.2_Silent_p.K173K NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA. 265 K -> M (in Ref. 1; BAB14138). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) ACACTGTGAAGGCAGTGTGTG 0.433000 29 15 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219602568 219602568 + Missense_Mutation SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:219602568A>G uc002viy.3 + 2 539 c.169A>G c.(169-171)Aag>Gag p.K57E TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.3_Missense_Mutation_p.K57E NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 57 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) GAAGCTGGAAAAGAAGCAAGT 0.582000 80 16 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39781267 39781267 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:39781267C>T uc021olt.1 + 25 3420 c.3368C>T c.(3367-3369)cCa>cTa p.P1123L MACF1_uc021ols.1_Missense_Mutation_p.P1123L|MACF1_uc001cdc.2_Missense_Mutation_p.P1123L|MACF1_uc001cda.1_Missense_Mutation_p.P1031L|MACF1_uc009vvq.1_Missense_Mutation_p.P180L|MACF1_uc001cdb.1_Missense_Mutation_p.P210L NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 1123 Poly-Ser. Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CATCAGTCTCCATCTAGTTCA 0.458000 67 39 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1262038 1262038 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr16:1262038C>T uc002cks.3 + 24 4907 c.4659C>T c.(4657-4659)gtC>gtT p.V1553V CACNA1H_uc002ckt.3_Silent_p.V1553V|CACNA1H_uc002cku.3_Silent_p.V259V|CACNA1H_uc010brj.3_Silent_p.V259V|CACNA1H_uc002ckv.3_Silent_p.V259V NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1553 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TCGTGGGCGTCGTGGTCGAGA 0.627000 132 59 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5461845 5461845 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:5461845C>T uc010qze.2 - 0 939 c.900G>A c.(898-900)gaG>gaA p.E300E HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E300D(2)|p.E300*(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTTGCGGATCTCCTTGGTTT 0.473000 40 32 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129520822 129520822 + Missense_Mutation SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:129520822T>C uc003kvd.3 + 2 1987 c.1987T>C c.(1987-1989)Tct>Cct p.S663P NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA. 663 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CAGTAGGGATTCTGGCCAAGA 0.408000 68 38 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88039902 88039902 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:88039902G>A uc003dqr.2 + 1 161 c.3G>A c.(1-3)atG>atA p.M1I HTR1F_uc021xbd.1_Missense_Mutation_p.M1I NM_000866 NP_000857 P30939 5HT1F_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA. 1 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CAAAGAAAATGGATTTCTTAA 0.368000 62 22 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1083069 1083069 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:1083069G>A uc001lsx.1 + 15 1996 c.1969G>A c.(1969-1971)Gat>Aat p.D657N NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 657 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|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;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGCAGACAAGGATGTGGGCTC 0.662000 8 3 0 0 1 0 0 C20orf3 57136 broad.mit.edu 37 20 24959419 24959419 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:24959419G>A uc002wtz.3 - 2 413 c.312C>T c.(310-312)tcC>tcT p.S104S C20orf3_uc002wty.3_Silent_p.S104S|C20orf3_uc010zsw.2_Silent_p.S104S NM_020531 NP_065392 Q9HDC9 APMAP_HUMAN Homo sapiens chromosome 20 open reading frame 3 (C20orf3), mRNA. 104 biosynthetic process cell surface|integral to membrane arylesterase activity|strictosidine synthase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2) 21 TATGTGCTATGGACTCCGGTC 0.552000 37 45 0 0 1 0 0 FSHB 2488 broad.mit.edu 37 11 30255117 30255117 + Splice_Site SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:30255117G>A uc001msl.3 + 3 229 c.160_splice c.e3-1 p.D54_splice FSHB_uc001msm.3_Splice_Site_p.D54_splice|FSHB_uc001msn.3_Splice_Site_p.D54_splice NM_000510 NP_001018090 P01225 FSHB_HUMAN Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA. 54 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) AACTCCTCAGGATCTGGTGTA 0.428000 21 12 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328320 3328320 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:3328320C>T uc001akf.3 + 8 1641 c.1559C>T c.(1558-1560)cCa>cTa p.P520L PRDM16_uc001ake.3_Missense_Mutation_p.P520L|PRDM16_uc009vlh.3_Missense_Mutation_p.P221L|PRDM16_uc001akc.3_Missense_Mutation_p.P520L NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 520 Pro-rich. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ATCTTCCCTCCATCCTTGTAC 0.687000 T EVI1 """MDS, AML""" 107 49 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874853 10874853 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:10874853G>A uc003mzn.4 - 4 968 c.896C>T c.(895-897)cCt>cTt p.P299L SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA. 299 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TGTGTCATTAGGGATACTGGT 0.423000 177 109 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600221 29600221 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr13:29600221G>A uc001usl.4 + 0 1474 c.1416G>A c.(1414-1416)ggG>ggA p.G472G NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 462 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TGGGCAGTGGGAATAAGGACA 0.502000 41 17 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104190802 104190802 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:104190802C>T uc004bbk.2 - 3 410 c.328G>A c.(328-330)Gac>Aac p.D110N NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 110 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) CCTCCTTGGTCTAACTGTGGA 0.403000 69 42 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116048750 116048750 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:116048750G>A uc001lbl.1 + 11 1945 c.1624G>A c.(1624-1626)Gta>Ata p.V542I VWA2_uc001lbk.1_Missense_Mutation_p.V542I|VWA2_uc009xyf.1_Missense_Mutation_p.V238I NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA. 542 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) CTCTGCCTCAGTAGGGCCCGA 0.577000 27 23 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7639546 7639546 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:7639546G>A uc001qsz.3 - 8 2215 c.2087C>T c.(2086-2088)tCg>tTg p.S696L CD163_uc001qta.3_Missense_Mutation_p.S696L|CD163_uc009zfw.2_Missense_Mutation_p.S729L NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 696 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.S696L(2) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCCCAAAGACGATGAATTGCA 0.438000 53 25 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40705264 40705264 + Silent SNP T G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:40705264T>G uc001cfc.4 + 7 4921 c.4890T>G c.(4888-4890)ggT>ggG p.G1630G RLF_uc001cfd.4_Silent_p.G1321G NM_012421 NP_036553 Q13129 RLF_HUMAN Homo sapiens rearranged L-myc fusion (RLF), mRNA. 1630 DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ATTCCCCGGGTGACAGTAGTG 0.463000 54 21 0 0 1 0 0 C8orf47 203111 broad.mit.edu 37 8 99101873 99101874 + Missense_Mutation DNP GG AA AA TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:99101873_99101874GG>AA uc003yih.1 + 1 776_777 c.628_629GG>AA c.(628-630)gga>AAa p.G210K C8orf47_uc022ayz.1_Intron NM_173549 NP_775820 Q6P6B1 CH047_HUMAN Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA. 210 kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) GGGCACAGTGGGAAAGGATGAG 0.465000 39 18 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641459 179641459 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:179641459G>A uc021vsy.1 - 27 5357 c.5132C>T c.(5131-5133)tCc>tTc p.S1711F TTN_uc021vsz.1_Missense_Mutation_p.S1665F|TTN_uc021vta.1_Missense_Mutation_p.S1665F|TTN_uc021vtb.1_Missense_Mutation_p.S1665F|TTN_uc002unb.2_Missense_Mutation_p.S1711F|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1711 Ig-like 8. 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) AAGTCTTAAGGAAGTGAGTTT 0.473000 34 14 0 0 1 0 0 MSTN 2660 broad.mit.edu 37 2 190922148 190922148 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:190922148G>A uc002urp.3 - 2 1097 c.964C>T c.(964-966)Cct>Tct p.P322S NM_005259 NP_005250 O14793 GDF8_HUMAN Homo sapiens myostatin (MSTN), mRNA. 322 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity p.P322L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TGAGTATGAGGATATTTTTGT 0.393000 42 23 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450870 55450870 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:55450870C>T uc002qih.4 - 3 1393 c.1317G>A c.(1315-1317)ggG>ggA p.G439G NLRP7_uc010esk.3_Silent_p.G439G|NLRP7_uc002qig.4_Silent_p.G439G|NLRP7_uc002qii.4_Silent_p.G439G|NLRP7_uc010esl.3_Silent_p.G467G NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 439 NACHT. ATP binding p.G439W(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) ACTCCTGCACCCCGAGCCTTT 0.662000 29 15 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769414 57769414 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:57769414C>T uc002yan.3 + 0 3340 c.3340C>T c.(3340-3342)Cct>Tct p.P1114S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1114 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCCAGAAGATCCTTCTTCAGG 0.672000 33 56 0 0 1 0 0 DDX50 79009 broad.mit.edu 37 10 70703013 70703013 + Splice_Site SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:70703013G>A uc001jou.3 + 14 2042 c.1935_splice c.e14+1 p.Q645_splice NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA. 645 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 AAAGGTTACAGGTATTTTTAA 0.294000 42 16 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087124 39087124 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr21:39087124C>T uc011aej.1 - 2 389 c.336G>A c.(334-336)tgG>tgA p.W112* KCNJ6_uc002ywo.2_Nonsense_Mutation_p.W112* NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 112 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) ATGCGATCAACCACCAGATCA 0.448000 185 70 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69002868 69002868 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:69002868A>C uc003xxv.1 + 19 2195 c.2168A>C c.(2167-2169)aAt>aCt p.N723T PREX2_uc003xxu.1_Missense_Mutation_p.N723T|PREX2_uc011lez.1_Missense_Mutation_p.N658T NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 723 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding 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 ATCAAGGTGAATGGAATCAAT 0.448000 52 23 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113233760 113233760 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:113233760G>A uc010mtz.3 - 15 3219 c.2882C>T c.(2881-2883)cCc>cTc p.P961L SVEP1_uc010mua.1_Missense_Mutation_p.P961L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 961 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGAATACATGGGGTCTTTGTT 0.413000 30 7 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57489238 57489238 + Missense_Mutation SNP A T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:57489238A>T uc009vzx.1 - 10 1181 c.861T>A c.(859-861)agT>agA p.S287R DAB1_uc001cyt.1_Missense_Mutation_p.S285R|DAB1_uc001cyq.1_Missense_Mutation_p.S285R|DAB1_uc001cyr.1_Missense_Mutation_p.S201R|DAB1_uc009vzw.1_Missense_Mutation_p.S269R|DAB1_uc001cys.1_Missense_Mutation_p.S287R NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 320 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 AAGGTACAGAACTAAACACAT 0.512000 13 7 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45414960 45414960 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:45414960G>A uc001wvq.3 - 1 418 c.172C>T c.(172-174)Ccg>Tcg p.P58S KLHL28_uc001wvr.3_Missense_Mutation_p.P58S|KLHL28_uc001wvt.4_Missense_Mutation_p.P58S NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA. 58 BTB. breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTGAAATACGGGCTGACGCTG 0.428000 69 39 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49762735 49762735 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr13:49762735G>A uc001vcm.3 + 16 2215 c.1910G>A c.(1909-1911)cGa>cAa p.R637Q FNDC3A_uc001vcn.3_Missense_Mutation_p.R637Q|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.R563Q|FNDC3A_uc001vcq.3_Missense_Mutation_p.R581Q NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA. 637 Fibronectin type-III 4. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TATCGTTTACGAGTTTACTGC 0.413000 178 52 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138672022 138672022 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:138672022C>T uc011mwn.1 - 22 2783 c.2777G>A c.(2776-2778)gGt>gAt p.G926D MCF2_uc004fav.3_Missense_Mutation_p.G797D|MCF2_uc004fau.3_Missense_Mutation_p.G781D|MCF2_uc010nsh.2_Missense_Mutation_p.G781D|MCF2_uc011mwm.2_Missense_Mutation_p.G742D|MCF2_uc011mwl.2_Missense_Mutation_p.G758D|MCF2_uc011mwo.1_Missense_Mutation_p.G857D|MCF2_uc004faw.2_Missense_Mutation_p.G841D NM_001171878 NP_001165349 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA. 781 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction Rho guanyl-nucleotide exchange factor activity|protein binding NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTCCTTTTCACCATACCAGAT 0.313000 14 34 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91628400 91628400 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:91628400C>T uc004aqf.2 - 11 2054 c.1747G>A c.(1747-1749)Gag>Aag p.E583K NM_016848 NP_058544 Q92529 SHC3_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA. 583 SH2. Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 AGACACAGCTCACTCCCTGCA 0.557000 39 35 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39247098 39247098 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:39247098G>A uc003thb.2 + 4 533 c.390G>A c.(388-390)caG>caA p.Q130Q POU6F2_uc022acb.1_Silent_p.Q130Q|POU6F2_uc010kxo.3_Silent_p.Q122Q NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 130 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 TGGCGGGACAGCTAGGAGGCC 0.607000 134 45 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346845 48346845 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:48346845C>T uc010rhv.2 + 0 353 c.353C>T c.(352-354)tCt>tTt p.S118F NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 AGAACCATCTCTTATGAGTGC 0.438000 243 13 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35485075 35485075 + Nonsense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:35485075G>A uc001byh.3 - 3 535 c.307C>T c.(307-309)Caa>Taa p.Q103* ZMYM6_uc001byf.1_Nonsense_Mutation_p.Q103*|ZMYM6_uc010oht.2_Nonsense_Mutation_p.Q6*|ZMYM6_uc009vup.3_Intron|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.Q103*|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byi.2_Nonsense_Mutation_p.Q103*|ZMYM6_uc001byj.2_Nonsense_Mutation_p.Q103*|ZMYM6_uc001byk.2_Nonsense_Mutation_p.Q103* NM_007167 NP_009098 O95789 ZMYM6_HUMAN Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA. 103 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TATGCAGTTTGGCCCTTATAA 0.448000 78 26 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214209143 214209143 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:214209143C>T uc001hkh.3 + 4 2452 c.2180C>T c.(2179-2181)tCc>tTc p.S727F NM_002763 NP_002754 Q92786 PROX1_HUMAN Homo sapiens prospero homeobox 1 (PROX1), mRNA. 727 Prospero-like. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) ATTTTCAAATCCCCGAACTGC 0.423000 31 55 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431966 56431966 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:56431966G>A uc010rjm.2 + 0 805 c.805G>A c.(805-807)Gac>Aac p.D269N OR8U8_uc001nit.2_Intron NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA. 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 CTACTCCCTGGACCAAGACAA 0.488000 47 35 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 441409 441409 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:441409G>A uc003zgf.2 + 40 5459 c.5347G>A c.(5347-5349)Gtt>Att p.V1783I DOCK8_uc022bcu.1_Missense_Mutation_p.V1715I|DOCK8_uc010mgv.3_Missense_Mutation_p.V1683I|DOCK8_uc010mgu.3_Missense_Mutation_p.V1085I|DOCK8_uc003zgk.2_Missense_Mutation_p.V1241I NM_203447 NP_001180465 Q8NF50 DOCK8_HUMAN Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA. 1783 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CGACAGCATCGTTAACAAGGT 0.567000 46 19 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170127610 170127610 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:170127610C>T uc002ues.3 - 15 2337 c.2124G>A c.(2122-2124)caG>caA p.Q708Q LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 708 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGAGGAAATTCTGAACAGCTG 0.438000 15 11 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179816679 179816679 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:179816679A>C uc001gnl.3 - 5 1460 c.646T>G c.(646-648)Tgg>Ggg p.W216G TOR1AIP2_uc001gnk.3_Missense_Mutation_p.W216G NM_001199260 NP_001186189 Q8NFQ8 TOIP2_HUMAN Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA. 216 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 CCATAGCTCCAAAAACCCTTT 0.378000 49 23 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1562489 1562489 + Missense_Mutation SNP C G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:1562489C>G uc001agg.3 + 10 1666 c.1621C>G c.(1621-1623)Cag>Gag p.Q541E MIB2_uc001agh.3_Missense_Mutation_p.Q527E|MIB2_uc001agi.3_Missense_Mutation_p.Q537E|MIB2_uc001agj.3_Missense_Mutation_p.Q325E|MIB2_uc001agk.3_Missense_Mutation_p.Q476E|MIB2_uc001agl.2_Missense_Mutation_p.Q440E|MIB2_uc001agm.3_Missense_Mutation_p.Q361E|MIB2_uc010nyq.2_Missense_Mutation_p.Q440E|MIB2_uc009vkh.3_Missense_Mutation_p.Q290E|MIB2_uc001agn.3_Missense_Mutation_p.Q116E|MIB2_uc001ago.3_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA. 484 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCTTCGGGCCCAGAAGAGTGA 0.706000 13 3 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81613796 81613796 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:81613796G>A uc001szl.1 + 10 1546 c.1455G>A c.(1453-1455)atG>atA p.M485I ACSS3_uc001szm.1_Missense_Mutation_p.M484I|ACSS3_uc001szn.1_Missense_Mutation_p.M167I NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 485 mitochondrion ATP binding|acetate-CoA ligase activity p.M485V(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTGTAGTTATGATTTTGGATG 0.254000 49 22 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31537312 31537312 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:31537312A>C uc010dmi.3 - 7 1704 c.1406T>G c.(1405-1407)aTg>aGg p.M469R NOL4_uc010xbs.2_Missense_Mutation_p.M184R|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.M395R|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 469 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 ACTTCTTTTCATCCGCCTGCA 0.423000 48 18 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50893056 50893056 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:50893056G>A uc003blh.3 - 35 5123 c.4928C>T c.(4927-4929)cCc>cTc p.P1643L SBF1_uc003ble.3_Missense_Mutation_p.P107L|SBF1_uc011arx.2_Missense_Mutation_p.P1281L NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 1617 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TTCCTCTGGGGGTTCAGGGGG 0.667000 67 33 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45800590 45800590 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:45800590G>A uc011bai.2 - 10 1783 c.1659C>T c.(1657-1659)gcC>gcT p.A553A SLC6A20_uc003cow.3_Silent_p.A203A|SLC6A20_uc011baj.2_Silent_p.A516A NM_020208 NP_064593 Q9NP91 S6A20_HUMAN Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA. 553 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CCAGTGCATAGGCCGGGTAAT 0.632000 40 18 0 0 1 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62885866 62885866 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:62885866A>C uc004dvl.2 - 6 1795 c.956T>G c.(955-957)cTg>cGg p.L319R ARHGEF9_uc011mos.1_Missense_Mutation_p.L298R|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc004dvm.1_Missense_Mutation_p.L298R|ARHGEF9_uc004dvj.2_Missense_Mutation_p.L217R|ARHGEF9_uc011mot.2_Missense_Mutation_p.L266R|ARHGEF9_uc004dvn.3_Missense_Mutation_p.L326R NM_015185 NP_001166951 O43307 ARHG9_HUMAN Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA. 319 PH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 AGTGTAGATCAGCTCCGAGCT 0.592000 15 23 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150498808 150498808 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:150498808C>T uc003whx.1 + 1 248 c.170C>T c.(169-171)tCg>tTg p.S57L TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank NM_018487 NP_060957 Q96HP8 T176A_HUMAN Homo sapiens transmembrane protein 176A (TMEM176A), mRNA. 57 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGGTGGCCTCGTGGGTGAGT 0.716000 13 7 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197656111 197656111 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:197656111C>T uc002uts.3 - 3 642 c.485G>A c.(484-486)cGa>cAa p.R162Q GTF3C3_uc010zgu.2_Missense_Mutation_p.R162Q|GTF3C3_uc002utu.3_Missense_Mutation_p.R162Q NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA. 162 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ACGTTCTCCTCGAGCAAAACG 0.418000 48 37 0 0 1 0 0 PTF1A 256297 broad.mit.edu 37 10 23482639 23482639 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:23482639C>T uc001irp.3 + 1 791 c.791C>T c.(790-792)cCc>cTc p.P264L NM_178161 NP_835455 Q7RTS3 PTF1A_HUMAN Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA. 264 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CCAGGGTCCCCCTCCCCCAGC 0.507000 188 88 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101005380 101005380 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:101005380C>T uc010txa.2 - 5 854 c.708G>A c.(706-708)ccG>ccA p.P236P BEGAIN_uc001yhp.3_Silent_p.P172P|BEGAIN_uc001yhq.3_Silent_p.P236P NM_001159531 NP_065887 Q9BUH8 BEGIN_HUMAN Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA. 236 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GCCGCTCCTCCGGGCAGTAGA 0.716000 16 8 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999314 72999314 + Missense_Mutation SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:72999314A>G uc002lly.3 + 1 2380 c.1817A>G c.(1816-1818)aAc>aGc p.N606S TSHZ1_uc021uln.1_Missense_Mutation_p.N606S NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 651 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N606S(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGCAAGGTCAACATCAAGAAG 0.587000 41 22 0 0 1 0 0 ACOT4 122970 broad.mit.edu 37 14 74060573 74060573 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:74060573G>A uc001xoo.3 + 1 879 c.625G>A c.(625-627)Gaa>Aaa p.E209K NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA. 209 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) GGAGTACTTCGAAGAAGCCGT 0.433000 88 22 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71389811 71389811 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:71389811C>T uc010dfm.3 - 26 3786 c.3786G>A c.(3784-3786)caG>caA p.Q1262Q SDK2_uc002jjt.4_Silent_p.Q421Q|SDK2_uc010dfn.2_Silent_p.Q941Q NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1262 Fibronectin type-III 7. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 AGCCGGTGAGCTGGGCACTGC 0.627000 35 25 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409762 79409762 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:79409762C>T uc002kaf.2 + 3 1201 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA. 463 DNA binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1) 26 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) GGCCCTCAACCCCCGGCTAAA 0.667000 13 9 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62568807 62568807 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:62568807G>A uc001nvf.1 - 7 928 c.792C>T c.(790-792)atC>atT p.I264I NXF1_uc001nvg.1_Silent_p.I264I|NXF1_uc009yog.1_Silent_p.I307I|NXF1_uc010rmh.1_Silent_p.I127I NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA. 264 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTACCTCAGGGATGTTCTCTT 0.517000 32 12 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687310 21687310 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:21687310C>T uc002wsj.2 + 1 575 c.521C>T c.(520-522)aCt>aTt p.T174I PAX1_uc010zsl.2_Missense_Mutation_p.T174I|PAX1_uc010zsm.2_Missense_Mutation_p.T150I NM_006192 NP_006183 P15863 PAX1_HUMAN Homo sapiens paired box 1 (PAX1), mRNA. 174 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CGCGTCACCACTCCCAACGTG 0.662000 57 61 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74473797 74473797 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:74473797C>T uc002axj.3 - 16 2000 c.1640G>A c.(1639-1641)cGa>cAa p.R547Q STRA6_uc002axi.3_Missense_Mutation_p.R317Q|STRA6_uc010ulh.2_Missense_Mutation_p.R546Q|STRA6_uc002axk.3_Missense_Mutation_p.R508Q|STRA6_uc002axl.3_Missense_Mutation_p.R440Q|STRA6_uc010bji.3_Missense_Mutation_p.R508Q|STRA6_uc021sqg.1_Missense_Mutation_p.R523Q|STRA6_uc002axm.3_Missense_Mutation_p.R508Q|STRA6_uc002axn.3_Missense_Mutation_p.R499Q|STRA6_uc010uli.2_Missense_Mutation_p.R545Q NM_001199042 NP_001185971 Q9BX79 STRA6_HUMAN Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA. 508 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 ATAGAGCACTCGCCTAGGATG 0.592000 16 7 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72173169 72173169 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:72173169C>T uc003kck.4 + 8 1063 c.916C>T c.(916-918)Cct>Tct p.P306S TNPO1_uc011csi.1_Non-coding_Transcript|TNPO1_uc011csj.1_Missense_Mutation_p.P256S|TNPO1_uc003kci.4_Missense_Mutation_p.P298S|TNPO1_uc003kcg.4_Missense_Mutation_p.P298S|MIR4804_uc021yal.1_5'Flank NM_002270 NP_694858 Q92973 TNPO1_HUMAN Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA. 306 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) AAGGCATCTTCCTAAGTAAGT 0.338000 45 22 0 0 1 0 0 EPYC 1833 broad.mit.edu 37 12 91363837 91363837 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:91363837C>T uc001tbk.3 - 5 875 c.782G>A c.(781-783)cGa>cAa p.R261Q NM_004950 NP_004941 Q99645 EPYC_HUMAN Homo sapiens epiphycan (EPYC), mRNA. 261 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding p.R261G(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 GTGAAGGGCTCGTAGATTTTC 0.473000 108 58 0 0 1 0 0 C11orf48 79081 broad.mit.edu 37 11 62430766 62430766 + Missense_Mutation SNP C T T rs144393003 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:62430766C>T uc001nuf.3 - 5 919 c.703G>A c.(703-705)Gcg>Acg p.A235T METTL12_uc001nug.1_5'Flank|METTL12_uc001nuh.3_5'Flank|SNORA57_uc009yoa.1_5'Flank|METTL12_uc010rmc.1_5'Flank NM_024099 NP_077004 Q9BQE6 CK048_HUMAN Homo sapiens chromosome 11 open reading frame 48 (C11orf48), mRNA. 261 endometrium(1)|lung(5)|urinary_tract(1) 7 GTTTTCTGCGCTTCTTCCCTG 0.512000 29 20 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67567606 67567606 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:67567606G>A uc001xiy.3 + 11 2293 c.1172G>A c.(1171-1173)gGg>gAg p.G391E GPHN_uc001xix.3_Missense_Mutation_p.G424E|GPHN_uc010tss.2_Missense_Mutation_p.G437E|GPHN_uc010tst.2_Missense_Mutation_p.G360E|GPHN_uc010tsu.2_Missense_Mutation_p.G314E NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA. 391 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TTCATCATTGGGGAATCCCAA 0.448000 T MLL AL 35 22 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45891085 45891085 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:45891085C>T uc010rgn.2 + 6 996 c.974C>T c.(973-975)tCc>tTc p.S325F CRY2_uc009ykw.3_Missense_Mutation_p.S243F|CRY2_uc010rgo.2_Missense_Mutation_p.S47F NM_021117 NP_066940 Q49AN0 CRY2_HUMAN Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA. 304 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 CCTCCCCTCTCCCTATTTGGG 0.562000 77 19 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807720 20807720 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:20807720G>A uc002npb.1 - 3 1113 c.963C>T c.(961-963)gcC>gcT p.A321A ZNF626_uc002npc.1_Silent_p.A245A NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AGTACTTAAAGGCTTTGTCAC 0.378000 59 38 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79686870 79686870 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:79686870C>T uc010wut.2 + 13 1312 c.1180C>T c.(1180-1182)Cac>Tac p.H394Y SLC25A10_uc002kbi.3_Missense_Mutation_p.H239Y|SLC25A10_uc010dif.3_Missense_Mutation_p.H248Y|SLC25A10_uc010wuu.2_Missense_Mutation_p.H193Y NM_012140 NP_036272 Q9UBX3 DIC_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA. 239 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) GGGCGTTTTCCACTGCGCCGT 0.612000 235 111 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164341 150164341 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:150164341C>T uc003whj.3 + 1 885 c.555C>T c.(553-555)ctC>ctT p.L185L NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 185 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TGTTGGAGCTCCTTCGCAAGG 0.433000 147 54 0 0 1 0 0 ZWILCH 55055 broad.mit.edu 37 15 66824698 66824698 + Silent SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:66824698T>C uc002aqb.3 + 12 1515 c.1269T>C c.(1267-1269)atT>atC p.I423I ZWILCH_uc010bhu.1_Silent_p.I309I|ZWILCH_uc002aqa.3_Silent_p.I309I|ZWILCH_uc010bhv.3_Silent_p.I309I NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA. 423 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 TTTTGGAAATTGGTTTGGACA 0.343000 31 22 0 0 1 0 0 CRLF1 9244 broad.mit.edu 37 19 18710534 18710534 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:18710534C>T uc010ebt.2 - 1 432 c.238G>A c.(238-240)Ggg>Agg p.G80R NM_004750 NP_004741 O75462 CRLF1_HUMAN Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA. 80 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 AGGCGGCGCCCGTTGAGGGTC 0.682000 7 5 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113302262 113302262 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:113302262G>A uc021xcn.1 + 6 1405 c.754G>A c.(754-756)Gat>Aat p.D252N SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.D252N|SIDT1_uc011big.2_Missense_Mutation_p.D5N NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA. 252 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 GCAGAAGAAGGATTTTCCAGG 0.458000 31 10 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803485 185803485 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:185803485C>T uc002uph.3 + 3 3956 c.3362C>T c.(3361-3363)aCc>aTc p.T1121I NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 1121 intracellular zinc ion binding p.G1120R(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 gctgcagGAACCTTTAAAGTG 0.527000 61 36 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128346131 128346131 + Splice_Site SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:128346131G>A uc002top.3 + 15 1907 c.1854_splice c.e15+1 p.K618_splice NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 618 Myosin head-like. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TCTCTTCAAGGTGGGCTCCCA 0.542000 39 21 0 0 1 0 0 ELOVL2 54898 broad.mit.edu 37 6 10990062 10990062 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:10990062G>A uc003mzp.4 - 6 800 c.639C>T c.(637-639)ttC>ttT p.F213F NM_017770 NP_060240 Q9NXB9 ELOV2_HUMAN Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA. 213 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) TGGTGAGCACGAACTGCACCT 0.547000 69 25 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884910 39884910 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:39884910G>A uc003axv.4 + 1 1797 c.1558G>A c.(1558-1560)Gga>Aga p.G520R MGAT3_uc010gxy.3_Missense_Mutation_p.G520R NM_002409 NP_002400 Q09327 MGAT3_HUMAN Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA. 520 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GGGTCCCGAGGGAAGGCCGCC 0.687000 5 6 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 61989096 61989096 + Silent SNP G A A rs140851159 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:61989096G>A uc003dlb.3 + 3 1163 c.444G>A c.(442-444)gtG>gtA p.V148V PTPRG_uc003dlc.3_Silent_p.V148V NM_002841 NP_002832 P23470 PTPRG_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA. 148 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CTGAGAAGGTGGAATTTCACT 0.493000 62 30 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56435334 56435335 + Missense_Mutation DNP GG AT AT TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:56435334_56435335GG>AT uc002iwf.3 - 7 3758_3759 c.1802_1803CC>AT c.(1801-1803)tcc>tAT p.S601Y RNF43_uc010wnv.2_Missense_Mutation_p.S560Y|RNF43_uc002iwh.4_Missense_Mutation_p.S601Y|RNF43_uc002iwg.4_Missense_Mutation_p.S601Y|RNF43_uc010dcw.3_Missense_Mutation_p.S474Y NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 601 Pro-rich. 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) CTGCTGAGTTGGATCTGGTGAC 0.653000 109 43 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141328324 141328324 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:141328324C>T uc010huq.1 + 22 2300 c.2300C>T c.(2299-2301)tCc>tTc p.S767F RASA2_uc003etz.1_Missense_Mutation_p.S763F|RASA2_uc003eua.1_Missense_Mutation_p.S764F NM_006506 NP_006497 Q15283 RASA2_HUMAN Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA. 763 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm Ras GTPase activator activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 AGAATTTATTCCCTTTTTACC 0.289000 51 22 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836184 12836184 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:12836184C>T uc001aui.3 + 1 813 c.786C>T c.(784-786)ttC>ttT p.F262F NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 262 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTCTCAGTTCCTCAAGCTGG 0.502000 121 38 0 0 1 0 0 CAV3 859 broad.mit.edu 37 3 8787320 8787320 + Missense_Mutation SNP C A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:8787320C>A uc003bra.3 + 1 300 c.223C>A c.(223-225)Ctg>Atg p.L75M C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.L75M NM_001234 NP_001225 P56539 CAV3_HUMAN Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. 75 Required for interaction with DAG1. T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity p.L75M(2) breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 GTGCTACCGTCTGTTGTCCAC 0.592000 26 12 7.03913e-09 7.09013e-09 1 1 0 TRPV3 162514 broad.mit.edu 37 17 3448530 3448530 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:3448530G>A uc002fvr.2 - 2 477 c.155C>T c.(154-156)cCc>cTc p.P52L TRPV3_uc010vrh.1_Missense_Mutation_p.P36L|TRPV3_uc010vri.1_Missense_Mutation_p.P36L|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.P52L|TRPV3_uc010vrj.1_Missense_Mutation_p.P36L|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.P36L|TRPV3_uc002fvu.3_Missense_Mutation_p.P52L NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA. 52 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) TGTGGGGTTGGGTTCAAACCC 0.597000 12 22 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21121299 21121299 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:21121299G>A uc002kum.4 - 14 2618 c.2344C>T c.(2344-2346)Ctc>Ttc p.L782F NPC1_uc010xaz.2_Missense_Mutation_p.L515F|NPC1_uc010xba.1_Missense_Mutation_p.L627F NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 782 SSD. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AACCCCAAGAGACTCACGAAA 0.453000 68 24 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78587109 78587109 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:78587109C>T uc003kfx.4 + 3 2063 c.1514C>T c.(1513-1515)gCa>gTa p.A505V JMY_uc003kfw.1_Missense_Mutation_p.A151V NM_152405 NP_689618 Q8N9B5 JMY_HUMAN Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA. 505 Interaction with p300/EP300 (By similarity). 'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) CGGAAACATGCACTAAAGGAA 0.358000 44 21 0 0 1 0 0 FAM75E1 286234 broad.mit.edu 37 9 90500129 90500129 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:90500129C>T uc004app.4 + 3 762 c.727C>T c.(727-729)Cct>Tct p.P243S FAM75E1_uc004apo.1_Missense_Mutation_p.P55S NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 243 Pro-rich. integral to membrane TGTGGTTTTTCCTCCTTCACC 0.617000 67 55 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9237504 9237504 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:9237504C>T uc010xkl.2 - 0 123 c.123G>A c.(121-123)ggG>ggA p.G41G NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 TGAGCAGGTTCCCCAGCATTG 0.542000 44 61 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44676716 44676716 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:44676716G>A uc010zxl.1 + 15 2149 c.2073G>A c.(2071-2073)aaG>aaA p.K691K SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.K668K NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 691 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACACACCAAGAACTGGAGGT 0.602000 12 5 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8176611 8176611 + Missense_Mutation SNP T G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:8176611T>G uc002mjf.3 - 30 4022 c.4005A>C c.(4003-4005)agA>agC p.R1335S NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1335 EGF-like 20; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GACAGTCACCTCTTGGGCTGC 0.632000 22 6 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125671770 125671770 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:125671770G>A uc010flu.3 + 23 4193 c.3829G>A c.(3829-3831)Gag>Aag p.E1277K CNTNAP5_uc002tno.3_Missense_Mutation_p.E1276K NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 1276 cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCAGATGAAGGAGAAGGAATA 0.433000 64 27 0 0 1 0 0 TDG 6996 broad.mit.edu 37 12 104373722 104373722 + Nonsense_Mutation SNP A T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:104373722A>T uc001tkg.3 + 2 503 c.280A>T c.(280-282)Aaa>Taa p.K94* TDG_uc010swh.1_Nonsense_Mutation_p.K94*|TDG_uc009zuk.3_Nonsense_Mutation_p.K90*|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR NM_003211 NP_003202 Q13569 TDG_HUMAN Homo sapiens thymine-DNA glycosylase (TDG), mRNA. 94 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) ATCAAAAGAAAAACAAGAAAA 0.348000 Base excision repair (BER), DNA glycosylases 92 7 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43596108 43596108 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:43596108C>T uc001jal.3 + 1 465 c.275C>T c.(274-276)aCc>aTc p.T92I RET_uc001jak.1_Missense_Mutation_p.T92I NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 92 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CAGGAGGACACCGGCCTCCTC 0.647000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 17 12 0 0 1 0 0 GRPR 2925 broad.mit.edu 37 X 16170454 16170454 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:16170454C>T uc004cxj.3 + 2 1494 c.841C>T c.(841-843)Cat>Tat p.H281Y NM_005314 NP_005305 P30550 GRPR_HUMAN Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA. 281 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) GCTCCCCAATCATGTCATCTA 0.547000 32 72 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89429874 89429874 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:89429874C>T uc001pda.3 + 12 1646 c.1120C>T c.(1120-1122)Cca>Tca p.P374S NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN Homo sapiens folate hydrolase 1B (FOLH1B), mRNA. 374 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity p.P374P(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATTAGGGTTACCAGACAGACC 0.294000 19 16 0 0 1 0 0 G6PC 2538 broad.mit.edu 37 17 41063317 41063317 + Silent SNP C T T rs137978566 byFrequency TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:41063317C>T uc002icb.1 + 4 1027 c.948C>T c.(946-948)tcC>tcT p.S316S G6PC_uc010whf.1_3'UTR NM_000151 NP_000142 P35575 G6PC_HUMAN Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA. 316 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) AACCCCCATCCCAAGTCGAGC 0.587000 146 59 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223507637 223507637 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:223507637G>A uc010zlq.1 - 3 297 c.262C>T c.(262-264)Cct>Tct p.P88S FARSB_uc002vne.1_Missense_Mutation_p.P68S|FARSB_uc002vnf.1_5'UTR NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA. 68 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) CTATTGGCAGGGACGTCAATT 0.388000 33 21 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156766193 156766193 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:156766193C>T uc021ygm.1 + 21 2649 c.2511C>T c.(2509-2511)atC>atT p.I837I CYFIP2_uc011ddn.2_Silent_p.I812I|CYFIP2_uc011ddo.2_Silent_p.I642I|CYFIP2_uc021ygn.1_Silent_p.I837I|CYFIP2_uc021ygo.1_Silent_p.I837I|CYFIP2_uc003lwt.3_Silent_p.I741I|CYFIP2_uc011ddp.2_Silent_p.I572I NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 863 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGGCCGTATCACCCTGCATG 0.562000 56 23 0 0 1 0 0 MKRN7P 7686 broad.mit.edu 37 20 45092571 45092571 + RNA SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:45092571G>A uc010zxt.2 - 0 c.1361C>T Homo sapiens makorin ring finger protein 7, pseudogene (MKRN7P), non-coding RNA. GATCATCATGGAACAAGTCCC 0.493000 9 11 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90651311 90651311 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:90651311G>A uc001xye.1 + 1 1633 c.1191G>A c.(1189-1191)atG>atA p.M397I NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA. 397 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) TTGCAATCATGAACAACAGGT 0.592000 21 13 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684339 75684339 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:75684339G>A uc010oqz.1 - 15 1548 c.1482C>T c.(1480-1482)acC>acT p.T494T SLC44A5_uc001dgt.2_Silent_p.T455T|SLC44A5_uc001dgs.2_Silent_p.T413T|SLC44A5_uc001dgr.2_Silent_p.T413T|SLC44A5_uc001dgu.3_Silent_p.T455T|SLC44A5_uc010ora.2_Silent_p.T449T|SLC44A5_uc010orb.2_Silent_p.T325T NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 455 integral to membrane|plasma membrane choline transmembrane transporter activity p.D494Y(1) kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ATACATGGAAGGTAGGGATGT 0.423000 70 55 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47143405 47143405 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr16:47143405G>A uc002eer.2 - 6 1285 c.872C>T c.(871-873)tCc>tTc p.S291F NETO2_uc002eeq.2_Missense_Mutation_p.S64F|NETO2_uc010vgf.2_Missense_Mutation_p.S284F NM_018092 NP_060562 Q8NC67 NETO2_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA. 291 CUB 2. integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CTCCACAAAGGAAGTAAAGAG 0.353000 HNSCC(25;0.065) 17 25 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723511 48723511 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:48723511G>A uc001rrm.3 + 0 749 c.437G>A c.(436-438)aGg>aAg p.R146K NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA. 146 Arg-rich. chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 GCTCCCTGGAGGACCCCAGCC 0.716000 12 5 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150445417 150445417 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:150445417C>T uc009wlr.3 + 10 4194 c.3993C>T c.(3991-3993)ctC>ctT p.L1331L RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Silent_p.L1305L NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 1331 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 ATAGTTCCCTCCTTCAAGGGA 0.632000 43 12 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168849246 168849246 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:168849246G>A uc011bpj.1 - 3 987 c.584C>T c.(583-585)cCc>cTc p.P195L MECOM_uc010hwk.1_Missense_Mutation_p.P30L|MECOM_uc003ffj.3_Missense_Mutation_p.P71L|MECOM_uc003ffi.3_Missense_Mutation_p.P7L|MECOM_uc011bpi.1_Missense_Mutation_p.P7L|MECOM_uc003ffn.3_Missense_Mutation_p.P7L|MECOM_uc003ffk.2_Missense_Mutation_p.P7L|MECOM_uc003ffl.2_Missense_Mutation_p.P167L|MECOM_uc011bpk.1_Missense_Mutation_p.P7L|MECOM_uc010hwn.2_Missense_Mutation_p.P195L|MECOM_uc003ffm.1_Missense_Mutation_p.P71L NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 102 sequence-specific DNA binding transcription factor activity p.P7>?(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AGTTTCATGGGGATAGTCTTC 0.463000 32 19 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74475553 74475553 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:74475553C>T uc002sko.1 - 12 1716 c.1714G>A c.(1714-1716)Gga>Aga p.G572R SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G572R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G572R|SLC4A5_uc002skp.1_Missense_Mutation_p.G508R|SLC4A5_uc002sks.1_Missense_Mutation_p.G572R NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 572 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGAGGCTGTCCCGAGAAGAGG 0.577000 34 4 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138732434 138732434 + Missense_Mutation SNP G A A rs141924548 byFrequency TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:138732434G>A uc003vun.3 - 12 3003 c.2615C>T c.(2614-2616)tCg>tTg p.S872L NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA. 872 PARP catalytic. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 GGAGGGATTCGATCTGGTATC 0.423000 101 94 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110030288 110030288 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:110030288C>T uc001dxr.3 + 4 577 c.562C>T c.(562-564)Cct>Tct p.P188S ATXN7L2_uc001dxs.3_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA. 188 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CATGGCTCCCCCTTCTAAAGA 0.602000 84 46 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47399664 47399664 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:47399664C>T uc001cqp.4 - 8 1227 c.1176G>A c.(1174-1176)gaG>gaA p.E392E CYP4A11_uc001cqq.2_Silent_p.E392E|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 392 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GAGTGCTGAGCTCTCTGCCAA 0.582000 31 12 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95404065 95404065 + Silent SNP G A A rs144225041 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:95404065G>A uc003ygk.3 - 9 1712 c.1581C>T c.(1579-1581)atC>atT p.I527I RAD54B_uc010may.2_Silent_p.I343I|RAD54B_uc003ygl.2_Non-coding_Transcript NM_012415 NP_001192192 O95073 FSBP_HUMAN Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA. 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding p.I527I(2)|p.F526F(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TTCTTCTAAGGATAAAGAGTC 0.368000 Direct reversal of damage;Homologous recombination 86 69 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76382001 76382001 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr13:76382001G>A uc021rkq.1 + 9 1917 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.E295K|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.E201K NM_005358 NP_005349 Q8WWI1 LMO7_HUMAN Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA. 580 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ACAGAAGAAAGAAGTGCCGCT 0.448000 97 20 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599728 136599728 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:136599728C>T uc003qgx.1 - 3 544 c.291G>A c.(289-291)tgG>tgA p.W97* BCLAF1_uc003qgy.1_Nonsense_Mutation_p.W95*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.W95*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.W97* NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 97 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GCCTTCTATTCCAGACAGGTC 0.478000 95 34 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105174066 105174066 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:105174066C>T uc001kwy.1 + 10 1437 c.1350C>T c.(1348-1350)atC>atT p.I450I NM_014976 NP_055791 Q14690 RRP5_HUMAN Homo sapiens programmed cell death 11 (PDCD11), mRNA. 450 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ATCATGACATCGAACCTGGGG 0.443000 14 14 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7843299 7843299 + Splice_Site SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:7843299A>G uc001qte.3 - 2 305 c.269_splice c.e2-1 p.G90_splice NM_020634 NP_065685 Q9NR23 GDF3_HUMAN Homo sapiens growth differentiation factor 3 (GDF3), mRNA. 90 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 AAAGAAAGAAACCTAGATGGG 0.388000 30 24 0 0 1 0 0 EXOC3 11336 broad.mit.edu 37 5 462402 462402 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:462402G>A uc003jba.3 + 8 1761 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_007277 NP_009208 O60645 EXOC3_HUMAN Homo sapiens exocyst complex component 3 (EXOC3), mRNA. 556 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TTTGCTGGAGGAGGTCTTCCT 0.597000 89 41 0 0 1 0 0 GPR155 151556 broad.mit.edu 37 2 175311446 175311446 + Nonsense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:175311446G>A uc002uit.3 - 12 2297 c.1906C>T c.(1906-1908)Cag>Tag p.Q636* GPR155_uc002uiu.3_Nonsense_Mutation_p.Q636*|GPR155_uc002uiv.3_Nonsense_Mutation_p.Q636*|GPR155_uc010fqs.3_Nonsense_Mutation_p.Q608* NM_001033045 NP_689742 Q7Z3F1 GP155_HUMAN Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA. 636 intracellular signal transduction|transmembrane transport integral to membrane p.Q636K(2) breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 ATGCAGCTCTGGGAGTTACAG 0.393000 83 25 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116617101 116617101 + Missense_Mutation SNP T G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:116617101T>G uc003yny.3 - 3 1673 c.1095A>C c.(1093-1095)caA>caC p.Q365H TRPS1_uc011lhy.2_Missense_Mutation_p.Q356H|TRPS1_uc003ynz.3_Missense_Mutation_p.Q352H|TRPS1_uc010mcy.3_Missense_Mutation_p.Q352H NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA. 352 NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GAAGAAAATGTTGTTCTAATT 0.423000 Langer-Giedion syndrome 66 21 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146086315 146086315 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:146086315G>A uc003ika.4 - 3 272 c.134C>T c.(133-135)tCt>tTt p.S45F OTUD4_uc021xsl.1_Missense_Mutation_p.S45F NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA. 110 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GTACATAAGAGAAAGGGCACT 0.308000 20 14 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107083118 107083118 + Silent SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:107083118T>C uc001tlt.3 + 6 812 c.672T>C c.(670-672)acT>acC p.T224T LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.T215T|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Silent_p.T224T|RFX4_uc001tlv.3_Silent_p.T121T NM_001206691 NP_001193620 Q33E94 RFX4_HUMAN Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA. 215 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 TACTGGACACTGTAATAAGAG 0.393000 79 19 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128332407 128332407 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:128332407C>T uc010sbs.1 - 7 1491 c.1175G>A c.(1174-1176)gGc>gAc p.G392D ETS1_uc001qej.2_Missense_Mutation_p.G436D|ETS1_uc009zch.2_Missense_Mutation_p.G176D|ETS1_uc009zcg.2_3'UTR NM_005238 NP_005229 P14921 ETS1_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA. 392 PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GTAGCGTAGGCCACGGCTCAG 0.468000 28 35 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470430 470430 + Nonsense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:470430A>C uc002wdw.1 - 9 1110 c.717T>G c.(715-717)taT>taG p.Y239* CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.Y239*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.Y103* NM_177559 NP_808228 P68400 CSK21_HUMAN Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA. 239 Protein kinase. Wnt receptor signaling pathway|axon guidance NuRD complex|Sin3 complex|cytosol|plasma membrane ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) TTACCTGATCATAATTGTCAT 0.393000 57 9 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9536216 9536216 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:9536216G>A uc010coc.3 + 10 1445 c.1216G>A c.(1216-1218)Ggt>Agt p.G406S WDR16_uc002gly.3_Missense_Mutation_p.G396S|WDR16_uc002glz.3_Missense_Mutation_p.G328S Q8N1V2 WDR16_HUMAN Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA. 396 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 ATGGAACGACGGTAAAATCCG 0.557000 27 39 0 0 1 0 0 DQX1 165545 broad.mit.edu 37 2 74747158 74747158 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:74747158G>A uc010yrw.2 - 8 1664 c.1499C>T c.(1498-1500)gCc>gTc p.A500V DQX1_uc002smc.3_Missense_Mutation_p.A61V NM_133637 NP_598376 Q8TE96 DQX1_HUMAN Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA. 500 nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 AAACCCAGGGGCAGCTGGAGG 0.537000 66 13 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 266289 266289 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:266289C>T uc021xka.1 - 3 357 c.357G>A c.(355-357)agG>agA p.R119R ZNF732_uc011buu.1_Silent_p.R87R NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN Homo sapiens zinc finger protein 732 (ZNF732), mRNA. 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 TCTGCACCTTCCTTTTACAGC 0.328000 11 5 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47505115 47505115 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:47505115C>T uc001cqt.3 + 7 1234 c.984C>T c.(982-984)atC>atT p.I328I CYP4X1_uc001cqr.3_Silent_p.I327I|CYP4X1_uc001cqs.3_Silent_p.I263I NM_178033 NP_828847 Q8N118 CP4X1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA. 328 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TCTCCTGGATCCTTTACTGCC 0.517000 62 27 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170725 113170725 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:113170725G>A uc010mtz.3 - 37 7492 c.7155C>T c.(7153-7155)ccC>ccT p.P2385P SVEP1_uc010mty.3_Silent_p.P311P NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2385 Sushi 17. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.T2385T(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGGAAATTAGGGGAGGTGGGG 0.453000 33 15 0 0 1 0 0 EPYC 1833 broad.mit.edu 37 12 91358079 91358079 + Missense_Mutation SNP C T T rs138857092 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:91358079C>T uc001tbk.3 - 6 916 c.823G>A c.(823-825)Gaa>Aaa p.E275K NM_004950 NP_004941 Q99645 EPYC_HUMAN Homo sapiens epiphycan (EPYC), mRNA. 275 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding p.E275K(4) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 AACGTATCTTCGTGCATTTCC 0.338000 36 16 0 0 1 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013383 142013383 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:142013383C>T uc003vxg.3 + 1 267 c.238C>T c.(238-240)Cga>Tga p.R80* TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; TGAAAGTGTGCGAAGTCGCTT 0.507000 145 109 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100189396 100189396 + Silent SNP G A A rs142866619 byFrequency TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:100189396G>A uc011kjz.1 + 3 611 c.543G>A c.(541-543)aaG>aaA p.K181K FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.K129K|FBXO24_uc003uvm.1_Silent_p.K143K|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.K131K NM_012172 NP_036304 O75426 FBX24_HUMAN Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA. 143 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCCCACCAAGGATCACGTCT 0.607000 94 66 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915142 39915142 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:39915142C>T uc010xuz.2 + 18 3694 c.3369C>T c.(3367-3369)atC>atT p.I1123I PLEKHG2_uc010xuy.2_Silent_p.I1064I|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.I901I NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 1123 Pro-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACCATCGGATCCCAGCCAACG 0.592000 68 23 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41199882 41199882 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:41199882G>A uc003jmk.2 - 3 643 c.433C>T c.(433-435)Cgc>Tgc p.R145C C6_uc003jml.1_Missense_Mutation_p.R145C NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 145 LDL-receptor class A. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.R145P(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGTCACAGCGAAATTTATTC 0.413000 84 50 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65289681 65289681 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:65289681C>T uc001xht.3 - 0 183 c.132G>A c.(130-132)cgG>cgA p.R44R SPTB_uc001xhr.3_Silent_p.R44R|SPTB_uc001xhs.3_Silent_p.R44R|SPTB_uc001xhu.3_Silent_p.R44R NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 44 Actin-binding. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.S43S(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGGCCTTTATCCGGGACCTCT 0.572000 OREG0022736 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 39 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175273 51175273 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr16:51175273G>A uc021tif.1 - 1 891 c.569C>T c.(568-570)tCc>tTc p.S190F SALL1_uc021tid.1_Missense_Mutation_p.S190F|SALL1_uc021tie.1_Missense_Mutation_p.S287F|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 287 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGATAAATGGGAACTTAGCGT 0.507000 40 28 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1746454 1746454 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:1746454C>T uc003gdo.3 + 14 2501 c.2346C>T c.(2344-2346)atC>atT p.I782I TACC3_uc003gdp.3_Silent_p.I422I NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA. 782 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) ACGAGGAGATCGCCCAGGTCC 0.682000 6 9 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109031524 109031524 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:109031524C>T uc003dxo.3 - 2 296 c.49G>A c.(49-51)Gaa>Aaa p.E17K NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA. 17 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCATCTACTTCCCCCTCCAAG 0.398000 70 47 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76415947 76415947 + Missense_Mutation SNP C G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr13:76415947C>G uc021rkq.1 + 23 4194 c.3859C>G c.(3859-3861)Cag>Gag p.Q1287E LMO7_uc010thv.2_Missense_Mutation_p.Q1005E|LMO7_uc001vjt.1_Missense_Mutation_p.Q953E|LMO7_uc001vjv.3_Missense_Mutation_p.Q1054E|LMO7_uc010thw.2_Missense_Mutation_p.Q931E|LMO7_uc001vjw.1_Missense_Mutation_p.Q960E NM_005358 NP_005349 Q8WWI1 LMO7_HUMAN Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA. 1339 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AAAGAAGCCGCAGGATCAGCT 0.527000 70 16 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5968604 5968604 + Missense_Mutation SNP T A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:5968604T>A uc010qzt.2 + 0 28 c.28T>A c.(28-30)Tcc>Acc p.S10T NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA. 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGACACCCTCTCCACTGAAGC 0.453000 12 30 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108072555 108072555 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:108072555G>A uc003dwz.3 + 3 760 c.346G>A c.(346-348)Gaa>Aaa p.E116K HHLA2_uc011bhl.2_Missense_Mutation_p.E52K|HHLA2_uc010hpu.3_Missense_Mutation_p.E116K|HHLA2_uc003dwy.4_Missense_Mutation_p.E116K NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 116 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 CCTTCTGGACGAAGGAATTTA 0.398000 30 12 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56735006 56735006 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:56735006C>T uc002qmq.3 - 2 748 c.582G>A c.(580-582)agG>agA p.R194R ZSCAN5A_uc010ygi.2_Silent_p.R77R|ZSCAN5A_uc002qmr.3_Silent_p.R194R|ZSCAN5A_uc002qms.1_Silent_p.R194R NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA. 194 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R194M(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCACCTGCCTCCTGGACAATG 0.612000 25 11 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110416793 110416793 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:110416793G>A uc003yne.3 + 14 1488 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 462 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATACTATATTGAAATCTTGCT 0.299000 HNSCC(38;0.096) 16 10 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26502153 26502153 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:26502153C>T uc003nif.4 + 1 472 c.415C>T c.(415-417)Ctg>Ttg p.L139L NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 139 extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 CCTGGTGCATCTGAAGGTGGC 0.532000 38 11 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106763 55106763 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:55106763C>T uc002qgh.1 + 4 739 c.557C>T c.(556-558)cCc>cTc p.P186L LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.P186L NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 186 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TCTGTGGGCCCCGTGAGCCCG 0.572000 99 69 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95765009 95765009 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:95765009C>T uc003kls.2 - 1 432 c.193G>A c.(193-195)Gaa>Aaa p.E65K PCSK1_uc021ybq.1_Missense_Mutation_p.E18K NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 65 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAGTGATTTTCAAGTGAACCA 0.338000 23 18 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147381031 147381031 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:147381031C>T uc021ovm.1 + 0 949 c.949C>T c.(949-951)Caa>Taa p.Q317* GJA8_uc001epu.2_Nonsense_Mutation_p.Q317* NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 317 cell communication|visual perception connexon complex|integral to plasma membrane channel activity p.Q317E(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCGGGGCTACCAAGAGACACT 0.627000 57 19 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764958 92764958 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:92764958C>T uc003umh.1 - 4 1543 c.327G>A c.(325-327)aaG>aaA p.K109K SAMD9L_uc003umj.1_Silent_p.K109K|SAMD9L_uc003umi.1_Silent_p.K109K|SAMD9L_uc010lfb.1_Silent_p.K109K|SAMD9L_uc003umk.1_Silent_p.K109K|SAMD9L_uc010lfc.1_Silent_p.K109K|SAMD9L_uc010lfd.1_Silent_p.K109K|SAMD9L_uc022ahh.1_Silent_p.K109K NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 109 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTTCTTCTTCCTTTTTGGTGT 0.333000 107 54 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:58385546G>T uc002qqo.2 - 2 1484 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN Homo sapiens zinc finger protein 814 (ZNF814), mRNA. 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(20) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 26 6 0.217242 0.217242 1 1 0 ANKRD20A2 441430 broad.mit.edu 37 2 95481750 95481750 + Splice_Site SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:95481750C>T uc010fhq.2 - 2 630 c.238_splice c.e2-1 p.D80_splice ANKRD20A2_uc010fhp.3_Splice_Site NM_001012421 NP_001012421 Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA. 500 large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 TTATGAAAATCCTAAATAAAA 0.303000 91 28 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158256885 158256885 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:158256885G>A uc003ipm.4 + 9 1788 c.1329G>A c.(1327-1329)gaG>gaA p.E443E GRIA2_uc011cit.2_Silent_p.E396E|GRIA2_uc003ipl.4_Silent_p.E443E|GRIA2_uc003ipk.4_Silent_p.E396E|GRIA2_uc010iqh.1_Non-coding_Transcript NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 443 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGCGCTATGAGGGCTACTGTG 0.418000 22 19 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35258649 35258649 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr21:35258649G>A uc002yta.1 + 38 5170 c.4902G>A c.(4900-4902)acG>acA p.T1634T DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.T1629T|ITSN1_uc002ytj.2_Silent_p.T1573T|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript NM_003024 NP_003015 Q15811 ITSN1_HUMAN Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA. 1634 C2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TCACCAAGACGATCCAGGACA 0.552000 47 38 0 0 1 0 0 DUSP15 128853 broad.mit.edu 37 20 30458380 30458380 + Splice_Site SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:30458380C>T uc002wwu.1 - 1 89 c.12_splice c.e1+1 p.G4_splice DUSP15_uc002wwv.1_5'Flank|DUSP15_uc002www.1_5'Flank|DUSP15_uc002wwx.1_5'UTR|TTLL9_uc010gdx.1_5'Flank|TTLL9_uc002wwy.1_5'Flank|TTLL9_uc002wwz.1_5'Flank|TTLL9_uc002wxa.1_5'Flank|TTLL9_uc002wxb.1_5'Flank Q9H1R2 DUS15_HUMAN Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA. 4 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCCTCCTACCCCTTCGGTCAT 0.776000 3 5 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34101012 34101012 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:34101012G>A uc003oir.4 - 0 625 c.262C>T c.(262-264)Cgc>Tgc p.R88C GRM4_uc011dsn.2_Missense_Mutation_p.R88C|GRM4_uc010jvh.3_Missense_Mutation_p.R88C|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Missense_Mutation_p.R7C NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 88 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TTGTTGATGCGATCCAGGGCG 0.632000 28 15 0 0 1 0 0 ATP1B2 482 broad.mit.edu 37 17 7557429 7557429 + Missense_Mutation SNP G A A rs139562417 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:7557429G>A uc002gif.1 + 3 989 c.406G>A c.(406-408)Gaa>Aaa p.E136K NM_001678 NP_001669 P14415 AT1B2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA. 136 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.E136K(2)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) ACGCTATTACGAACAGCCAGA 0.552000 63 103 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79933704 79933704 + Missense_Mutation SNP G C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:79933704G>C uc001xun.3 + 12 2775 c.2284G>C c.(2284-2286)Gac>Cac p.D762H NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.D130H|NRXN3_uc010asw.3_Missense_Mutation_p.D130H|NRXN3_uc001xur.4_Missense_Mutation_p.D130H NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 130 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGTCCGCATCGACAGTGCTCC 0.557000 49 30 0 0 1 0 0 NDFIP1 80762 broad.mit.edu 37 5 141511443 141511443 + Missense_Mutation SNP T A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:141511443T>A uc003lmi.4 + 1 350 c.134T>A c.(133-135)aTt>aAt p.I45N NDFIP1_uc003lmj.1_Missense_Mutation_p.I45N NM_030571 NP_085048 Q9BT67 NFIP1_HUMAN Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA. 45 cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination Golgi membrane|endosome membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm signal transducer activity large_intestine(3)|lung(1)|ovary(1) 5 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACAGCAGCATTTCTGCAGAG 0.398000 99 67 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111658403 111658403 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:111658403G>A uc010hqa.3 + 6 2623 c.2212G>A c.(2212-2214)Gaa>Aaa p.E738K PHLDB2_uc003dyc.3_Missense_Mutation_p.E722K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E695K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E738K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E695K|PHLDB2_uc003dyi.3_Missense_Mutation_p.E324K NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 738 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CCGTCTAGATGAAGAAAAGGA 0.433000 57 31 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52549028 52549028 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:52549028G>A uc003dej.3 + 35 3905 c.3831G>A c.(3829-3831)agG>agA p.R1277R NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1277 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACTGCACCAGGAGATTCCGCT 0.582000 27 15 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26689100 26689100 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:26689100G>A uc003acb.3 + 1 1019 c.823G>A c.(823-825)Gag>Aag p.E275K SEZ6L_uc003acd.3_Missense_Mutation_p.E275K|SEZ6L_uc011akd.2_Missense_Mutation_p.E275K|SEZ6L_uc003ace.3_Missense_Mutation_p.E275K|SEZ6L_uc011akc.2_Missense_Mutation_p.E275K|SEZ6L_uc003acc.3_Missense_Mutation_p.E275K|SEZ6L_uc003acf.1_Missense_Mutation_p.E48K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E48K NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 275 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 catcaccaccGAGCAGGCACC 0.552000 8 6 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151773552 151773552 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:151773552G>A uc001ezf.1 - 1 1819 c.1629C>T c.(1627-1629)ttC>ttT p.F543F LINGO4_uc021oyu.1_Silent_p.F543F NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA. 543 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTGAGGTGAGGAAGGGGAGGA 0.567000 460 59 0 0 1 0 0 POLI 11201 broad.mit.edu 37 18 51820709 51820709 + Missense_Mutation SNP G C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:51820709G>C uc002lfj.4 + 9 2163 c.2095G>C c.(2095-2097)Gat>Cat p.D699H POLI_uc010xds.2_Missense_Mutation_p.D620H|POLI_uc002lfk.4_Missense_Mutation_p.D596H|POLI_uc010dpg.3_Missense_Mutation_p.D295H NM_007195 NP_009126 Q9UNA4 POLI_HUMAN Homo sapiens polymerase (DNA directed) iota (POLI), mRNA. 699 DNA repair|DNA replication nucleoplasm DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AGATTCTGTTGATGAGAAAAT 0.418000 DNA polymerases (catalytic subunits) 74 12 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118374333 118374333 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:118374333C>T uc001pta.3 + 26 7740 c.7717C>T c.(7717-7719)Cca>Tca p.P2573S MLL_uc001ptb.3_Missense_Mutation_p.P2576S NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 2573 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGTGGCCCAACCAAGCCCCAA 0.463000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 22 31 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43913845 43913845 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:43913845C>T uc001cjk.2 + 67 9572 c.6962C>T c.(6961-6963)cCt>cTt p.P2321L SZT2_uc001cjl.2_Missense_Mutation_p.P309L NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 3220 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 AGACTGCCCCCTGAGCCAGAG 0.652000 19 11 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43360327 43360327 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:43360327C>T uc003tid.1 + 4 1051 c.446C>T c.(445-447)tCg>tTg p.S149L HECW1_uc011kbi.1_Missense_Mutation_p.S149L|HECW1_uc003tie.1_Missense_Mutation_p.S181L NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 149 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.A148A(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GATGCCAGCTCGTACTTTGTG 0.448000 48 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179467008 179467009 + Splice_Site DNP CC TT TT TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:179467008_179467009CC>TT uc021vsy.1 - 232 47641 c.47416_splice c.e232+1 p.E15806_splice MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Splice_Site_p.E9501_splice|TTN_uc021vta.1_Splice_Site_p.E9434_splice|TTN_uc021vtb.1_Splice_Site_p.E9309_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16733 Fibronectin type-III 14. 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) AGTACTAGTACCTTGAATATCA 0.351000 44 20 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42012084 42012084 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:42012084G>A uc011kbh.2 - 12 2046 c.1955C>T c.(1954-1956)cCc>cTc p.P652L GLI3_uc011kbg.2_Missense_Mutation_p.P593L NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 652 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ATCTCTCGGGGGTGGCGGCCG 0.612000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 99 75 0 0 1 0 0 HOXB1 3211 broad.mit.edu 37 17 46608194 46608194 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:46608194G>A uc002ink.1 - 0 79 c.73C>T c.(73-75)Cac>Tac p.H25Y HOXB1_uc021tzf.1_Missense_Mutation_p.H25Y NM_002144 NP_002135 P14653 HXB1_HUMAN Homo sapiens homeobox B1 (HOXB1), mRNA. 25 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGGGCGCTGTGGGCGCTGTAG 0.632000 55 37 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21991238 21991238 + Missense_Mutation SNP C A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:21991238C>A uc002nqj.3 - 3 1731 c.1601G>T c.(1600-1602)gGa>gTa p.G534V ZNF43_uc002nql.3_Missense_Mutation_p.G528V|ZNF43_uc002nqm.3_Missense_Mutation_p.G528V|ZNF43_uc010ecv.3_Missense_Mutation_p.G528V|ZNF43_uc002nqk.3_Missense_Mutation_p.G464V NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGGTTTCTCTCCAGTATGAGT 0.363000 64 12 2.27111e-07 2.28343e-07 1 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54537566 54537566 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:54537566G>A uc003dhf.3 + 4 477 c.429G>A c.(427-429)ggG>ggA p.G143G CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.G49G|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 143 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.G143G(2)|p.D142D(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACAAAGACGGGAATTTTTTGG 0.398000 49 22 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37770734 37770734 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:37770734G>A uc003asq.4 - 2 1627 c.841C>T c.(841-843)Ctt>Ttt p.L281F ELFN2_uc021wph.1_Missense_Mutation_p.L281F NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 281 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) TCCACCGAAAGGATCTCGTCG 0.692000 52 41 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46937273 46937273 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:46937273G>A uc003cqm.3 + 4 430 c.227G>A c.(226-228)gGg>gAg p.G76E PTH1R_uc021wxg.1_Missense_Mutation_p.G76E NM_000316 NP_001171673 Q03431 PTH1R_HUMAN Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. 76 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 TCCACATCAGGGAAGCCCAGG 0.542000 OREG0015543 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 20 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57136744 57136744 + Missense_Mutation SNP G A A rs138933353 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:57136744G>A uc002lib.3 - 3 431 c.361C>T c.(361-363)Cgg>Tgg p.R121W NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 121 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding p.R121L(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) TGTCTCTCCCGGTCATATCGG 0.522000 135 88 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961235 73961235 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:73961235G>A uc004eby.3 - 2 3774 c.3157C>T c.(3157-3159)Ctg>Ttg p.L1053L NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 1053 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GATATATCCAGGAGGTCAGTG 0.498000 25 42 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906468 13906468 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:13906468C>T uc001rbt.2 - 2 972 c.793G>A c.(793-795)Gat>Aat p.D265N NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 265 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.G264G(1)|p.G264E(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTGTCTGTATCCCCTGCCACC 0.547000 58 32 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323035 29323035 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:29323035G>A uc011dlo.2 - 0 1020 c.938C>T c.(937-939)tCc>tTc p.S313F NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA. 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S313F(4) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATCCAAAGAGGAAATTGGTGG 0.358000 75 32 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826592 43826592 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:43826592C>T uc010skx.2 - 19 2743 c.2743G>A c.(2743-2745)Gaa>Aaa p.E915K ADAMTS20_uc001rno.1_Missense_Mutation_p.E69K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E69K NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 915 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GATGAACATTCACTTTTGCCA 0.363000 63 40 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104125257 104125257 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:104125257C>T uc010mtd.3 - 3 819 c.710G>A c.(709-711)gGa>gAa p.G237E BAAT_uc004bbd.4_Missense_Mutation_p.G237E NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 237 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) AATCTGTACTCCTTGACATAC 0.388000 63 33 0 0 1 0 0 C12orf54 121273 broad.mit.edu 37 12 48884616 48884616 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:48884616C>T uc001rrr.3 + 5 321 c.190C>T c.(190-192)Cga>Tga p.R64* C12orf54_uc009zky.1_Non-coding_Transcript NM_152319 NP_689532 Q6X4T0 CL054_HUMAN Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA. 64 endometrium(1)|large_intestine(4) 5 TGCTCGGATTCGAGGTAAAAC 0.433000 64 46 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24921036 24921036 + Missense_Mutation SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:24921036T>C uc001ywo.3 + 0 496 c.22T>C c.(22-24)Ttt>Ctt p.F8L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 8 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ACTTAGTAAATTTAGACCCGG 0.662000 5 11 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175395 159175395 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:159175395C>T uc001ftp.4 + 0 347 c.172C>T c.(172-174)Ctg>Ttg p.L58L DARC_uc001fto.3_Silent_p.L56L NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 56 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CTCCTGTAACCTGCTGGATGA 0.522000 65 49 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89154685 89154685 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:89154685C>T uc021ryf.1 - 17 2921 c.2672G>A c.(2671-2673)aGa>aAa p.R891K EML5_uc021ryg.1_Missense_Mutation_p.R891K|EML5_uc001xxh.1_Missense_Mutation_p.R30K NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 891 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AAAGATGTCTCTCCAGATACA 0.403000 206 91 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47861238 47861238 + Missense_Mutation SNP G T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:47861238G>T uc010xyn.2 + 3 1482 c.1133G>T c.(1132-1134)cGg>cTg p.R378L DHX34_uc010elc.1_Intron NM_014681 NP_055496 Q14147 DHX34_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA. 378 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCTGAGGAGCGGGGTGACCTC 0.657000 30 12 3.07112e-06 3.0822e-06 1 1 0 ABL1 25 broad.mit.edu 37 9 133760430 133760430 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:133760430C>T uc004bzw.3 + 10 2756 c.2753C>T c.(2752-2754)cCg>cTg p.P918L ABL1_uc004bzv.3_Missense_Mutation_p.P937L NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 918 DNA-binding (By similarity).|Pro-rich. SPS -> RPG (in Ref. 1; AAA51561). DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding p.P918L(2) breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TCGCAGAGCCCGAGCCAGGAG 0.662000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 23 9 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201533398 201533398 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:201533398C>T uc002uvx.3 + 32 3771 c.3670C>T c.(3670-3672)Ccc>Tcc p.P1224S AOX1_uc010zhf.2_Missense_Mutation_p.P780S|AOX1_uc010fsu.3_Missense_Mutation_p.P590S NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 1224 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity p.S1223Y(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GAATTATTCTCCCCAGGGCAT 0.433000 62 15 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212488718 212488718 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:212488718G>A uc002veg.1 - 17 2229 c.2131C>T c.(2131-2133)Cgt>Tgt p.R711C ERBB4_uc002veh.1_Missense_Mutation_p.R711C|ERBB4_uc010zji.1_Missense_Mutation_p.R701C|ERBB4_uc010zjj.1_Missense_Mutation_p.R701C|ERBB4_uc010fut.1_Missense_Mutation_p.R711C NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 711 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.R711C(2) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTCAAAATACGAAGTTGAGCT 0.423000 TSP Lung(8;0.080) 39 16 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062219 76062219 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:76062219G>A uc001oxh.1 - 4 1975 c.1975C>T c.(1975-1977)Ccg>Tcg p.P659S PRKRIR_uc021qnn.1_Missense_Mutation_p.P484S|PRKRIR_uc010rrz.1_Missense_Mutation_p.P484S NM_004705 NP_004696 O43422 P52K_HUMAN Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA. 659 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 ATGGTGGACGGAAGCTCTATA 0.448000 87 60 0 0 1 0 0 TRBV30 28557 broad.mit.edu 37 7 142510476 142510476 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:142510476C>T uc003wbp.2 - 1 242 c.130G>A c.(130-132)Gga>Aga p.G44R TRBV30_uc022aob.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; TTTGATGTTCCCTCCACAGTG 0.572000 12 9 0 0 1 0 0 RWDD2B 10069 broad.mit.edu 37 21 30378954 30378954 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr21:30378954C>T uc002yms.3 - 4 831 c.744G>A c.(742-744)tgG>tgA p.W248* NM_016940 NP_058636 P57060 RWD2B_HUMAN Homo sapiens RWD domain containing 2B (RWDD2B), mRNA. 248 endometrium(1)|kidney(1)|large_intestine(8)|lung(2) 12 AAATTCTCTTCCAGTTTAATT 0.284000 19 11 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784796 32784796 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:32784796C>T uc022bfh.1 + 0 615 c.615C>T c.(613-615)atC>atT p.I205I TMEM215_uc003zri.4_Silent_p.I205I NM_212558 NP_997723 Q68D42 TM215_HUMAN Homo sapiens transmembrane protein 215 (TMEM215), mRNA. 205 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 ACAGTATCATCGTTTGCTCCT 0.502000 51 41 0 0 1 0 0 ING1 3621 broad.mit.edu 37 13 111368055 111368056 + Missense_Mutation DNP CC TT TT TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr13:111368055_111368056CC>TT uc001vri.3 + 0 697_698 c.265_266CC>TT c.(265-267)cct>TTt p.P89F CARS2_uc010tjm.1_5'Flank|DJ031140_uc001vre.3_5'Flank|ING1_uc001vrf.3_Intron|ING1_uc001vrg.3_Intron|ING1_uc001vrh.3_Intron NM_005537 NP_005528 Q9UK53 ING1_HUMAN Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA. 89 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) CTCCTCCTGGCCTCCGCCCTCC 0.698000 11 6 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139416379 139416379 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:139416379G>A uc003vvf.4 - 1 726 c.455C>T c.(454-456)cCc>cTc p.P152L HIPK2_uc003vvd.4_Missense_Mutation_p.P152L NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA. 152 Transcriptional corepression (By similarity). DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction PML body|centrosome|nuclear membrane ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) CTGAATCATGGGTGGATGCTC 0.542000 91 35 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891358 89891358 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:89891358G>A uc001pdf.4 + 6 951 c.842G>A c.(841-843)cGa>cAa p.R281Q NAALAD2_uc009yvx.3_Missense_Mutation_p.R281Q|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.R281Q|NAALAD2_uc001pde.3_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 281 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity p.R281*(2)|p.R281R(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GGAATCCCCCGAATACCTGTA 0.313000 49 55 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102818663 102818663 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:102818663C>T uc001phl.3 - 7 1197 c.1168G>A c.(1168-1170)Gat>Aat p.D390N NM_002427 NP_002418 P45452 MMP13_HUMAN Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. 390 Hemopexin-like 3. D -> G (in dbSNP:rs17860568). collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TTGCCTGTATCCTCAAAGTGA 0.438000 19 22 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128494698 128494698 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:128494698G>A uc003vnz.4 + 40 7168 c.6959G>A c.(6958-6960)gGa>gAa p.G2320E FLNC_uc003voa.4_Missense_Mutation_p.G2287E NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 2320 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GTGCGGGCCGGAGGCACAGGG 0.677000 16 23 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42085847 42085847 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:42085847G>A uc002ore.4 + 2 662 c.566G>A c.(565-567)aGg>aAg p.R189K CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.R189K NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA. 189 Ig-like C2-type. integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 GTCACGAAGAGGATGAAGCTG 0.537000 16 7 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856119 12856119 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:12856119G>A uc001auj.2 + 3 1502 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 467 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) ACCGTCTGAGGAACTGGAGCT 0.547000 114 11 0 0 1 0 0 SDHAF2 54949 broad.mit.edu 37 11 61205222 61205222 + Silent SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:61205222A>G uc001nrt.3 + 1 184 c.162A>G c.(160-162)ccA>ccG p.P54P NM_017841 NP_060311 Q9NX18 SDHF2_HUMAN Homo sapiens succinate dehydrogenase complex assembly factor 2 (SDHAF2), nuclear gene encoding mitochondrial protein, mRNA. 54 mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage mitochondrion protein binding large_intestine(3)|lung(4)|ovary(2) 9 CTTTGCCTCCATGGCAGGAGA 0.458000 122 29 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76231053 76231053 + Missense_Mutation SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:76231053T>C uc010ask.2 + 19 1963 c.1688T>C c.(1687-1689)cTg>cCg p.L563P TTLL5_uc001xrx.3_Missense_Mutation_p.L549P|TTLL5_uc001xrz.3_Missense_Mutation_p.L124P|TTLL5_uc001xry.1_Non-coding_Transcript NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA. 549 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CTCCTGTCTCTGGAGGTGCGA 0.502000 70 47 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101092788 101092788 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:101092788C>T uc011mrk.1 - 13 1245 c.885G>A c.(883-885)aaG>aaA p.K295K NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA. 295 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 TCCTGCTATCCTTGAAGTACT 0.502000 37 66 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350642 100350643 + Missense_Mutation DNP CC TT TT TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:100350642_100350643CC>TT uc003uwj.3 + 13 3079_3080 c.2914_2915CC>TT c.(2914-2916)ccc>TTc p.P972F ZAN_uc003uwk.3_Missense_Mutation_p.P972F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 972 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATCCCCACGGAAAAA 0.530000 149 82 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 54025254 54025254 + Silent SNP C T T rs148643501 byFrequency TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:54025254C>T uc002acj.2 - 1 135 c.93G>A c.(91-93)acG>acA p.T31T WDR72_uc010bfi.1_Silent_p.T31T NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 31 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CAGTCACAATCGTTCGCTGGT 0.512000 74 42 0 0 1 0 0 XRCC5 7520 broad.mit.edu 37 2 217012832 217012832 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:217012832C>T uc002vfy.3 + 13 1643 c.1503C>T c.(1501-1503)ccC>ccT p.P501P XRCC5_uc002vfz.3_Silent_p.P387P NM_021141 NP_066964 P13010 XRCC5_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA. 501 Pro-rich. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) CTTTACATCCCCGGGAGCCTC 0.413000 Non-homologous end-joining 92 22 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128659 152128659 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:152128659G>A uc001ezs.1 - 2 981 c.916C>T c.(916-918)Cat>Tat p.H306Y NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 306 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGACCATAATGATAACTCTGG 0.522000 788 184 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198704380 198704380 + Splice_Site SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:198704380A>G uc001gur.1 + 23 2577 c.2397_splice c.e23+1 p.N799_splice PTPRC_uc001gut.1_Splice_Site_p.N638_splice|PTPRC_uc021pgy.1_Splice_Site_p.N753_splice|PTPRC_uc010ppg.1_Splice_Site_p.N735_splice NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 799 Tyrosine-protein phosphatase 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AACATTGTAAATGTGAGTTTG 0.279000 56 19 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185184743 185184743 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:185184743G>A uc010hyf.3 + 10 1926 c.1635G>A c.(1633-1635)caG>caA p.Q545Q MAP3K13_uc011brt.2_Silent_p.Q338Q|MAP3K13_uc011bru.2_Silent_p.Q401Q|MAP3K13_uc003fpi.3_Silent_p.Q545Q|MAP3K13_uc010hyg.3_Silent_p.Q235Q NM_001242314 NP_001229243 O43283 M3K13_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA. 545 JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CTGGGATGCAGACCAAACGGT 0.483000 44 19 0 0 1 0 0 GLRX3 10539 broad.mit.edu 37 10 131959074 131959074 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:131959074C>T uc001lkn.2 + 3 337 c.291C>T c.(289-291)atC>atT p.I97I GLRX3_uc001lkm.2_Silent_p.I97I|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_5'UTR NM_001199868 NP_001186797 O76003 GLRX3_HUMAN Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA. 97 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) CTCAGAAAATCGACCGATTAG 0.378000 12 25 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41556696 41556696 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:41556696C>T uc003azl.4 + 19 4036 c.3641C>T c.(3640-3642)tCt>tTt p.S1214F NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 1214 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(2)|p.S1214Y(2) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GAGAGCGTTTCTTTGGGGGAT 0.438000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 45 25 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41712480 41712480 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:41712480G>A uc003ora.2 - 1 193 c.126C>T c.(124-126)ttC>ttT p.F42F PGC_uc021yzm.1_Silent_p.F42F NM_002630 NP_002621 P20142 PEPC_HUMAN Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA. 42 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGGTCCTCAGGAACTCCCCCA 0.532000 27 13 0 0 1 0 0 ZNF154 7710 broad.mit.edu 37 19 58213352 58213352 + Missense_Mutation SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:58213352A>G uc010euf.3 - 2 1205 c.965T>C c.(964-966)gTt>gCt p.V322A ZNF551_uc002qpx.3_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript NM_001085384 NP_001078853 Q13106 ZN154_HUMAN Homo sapiens zinc finger protein 154 (ZNF154), mRNA. 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCAGTGTGAACCCTATGGTG 0.478000 64 36 0 0 1 0 0 SLC25A41 284427 broad.mit.edu 37 19 6432083 6432083 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:6432083C>T uc010dus.3 - 1 426 c.340G>A c.(340-342)Gac>Aac p.D114N SLC25A41_uc010dut.3_5'UTR NM_173637 NP_775908 Q8N5S1 S2541_HUMAN Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA. 114 transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 TTGGCTCTGTCCAGAGGTGCC 0.612000 15 25 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234402192 234402192 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:234402192G>A uc010zmr.2 - 23 2829 c.2829C>T c.(2827-2829)ttC>ttT p.F943F USP40_uc010zms.1_Silent_p.F41F|USP40_uc002vuo.1_Silent_p.F107F NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. 931 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GCACCTTCAGGAAACCCTGAA 0.458000 11 11 0 0 1 0 0 SPDYE4 388333 broad.mit.edu 37 17 8658901 8658901 + Missense_Mutation SNP G A A rs74844184 by1000genomes TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:8658901G>A uc010cnz.1 - 3 599 c.422C>T c.(421-423)gCg>gTg p.A141V NM_001128076 NP_001121548 A6NLX3 SPDE4_HUMAN Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA. 141 breast(1)|endometrium(2)|kidney(1) 4 GCTAAAATACGCTATGACCAT 0.483000 133 6 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193016960 193016960 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:193016960G>A uc011bsq.2 - 24 2808 c.2808C>T c.(2806-2808)ctC>ctT p.L936L NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 936 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CATCTTGCATGAGATACTGGT 0.308000 31 19 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240267 3240267 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:3240267C>T uc004crg.4 - 4 3616 c.3459G>A c.(3457-3459)ggG>ggA p.G1153G NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1153 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATCTCCTTCTCCCGTTGGGTC 0.507000 20 42 0 0 1 0 0 AP1M1 8907 broad.mit.edu 37 19 16345240 16345240 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:16345240C>T uc002ndv.2 + 12 1475 c.1302C>T c.(1300-1302)acC>acT p.T434T AP1M1_uc002ndu.2_Silent_p.T422T|AP1M1_uc010xpd.1_Silent_p.T369T NM_001130524 NP_001123996 Q9BXS5 AP1M1_HUMAN Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA. 422 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 AGCTCCGGACCCAGTGAGGGG 0.687000 13 28 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115569077 115569077 + Missense_Mutation SNP A T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:115569077A>T uc004eqi.3 + 1 299 c.168A>T c.(166-168)ttA>ttT p.L56F SLC6A14_uc011mtm.2_Non-coding_Transcript NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 56 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CAGTGGGATTAGGAAATGTGT 0.438000 17 38 0 0 1 0 0 NPDC1 56654 broad.mit.edu 37 9 139934479 139934479 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:139934479C>T uc004cks.2 - 6 1736 c.1063G>A c.(1063-1065)Gat>Aat p.D355N NPDC1_uc004ckt.2_Missense_Mutation_p.D277N NM_015392 NP_056207 Q9NQX5 NPDC1_HUMAN Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA. 277 integral to membrane NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) TTCTCCTCATCCGAGGAGGCC 0.672000 36 16 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73566026 73566026 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:73566026C>T uc001jrx.4 + 54 8547 c.8157C>T c.(8155-8157)ttC>ttT p.F2719F CDH23_uc001jsg.4_Silent_p.F482F|CDH23_uc001jsh.4_Silent_p.F482F|CDH23_uc001jsi.4_Silent_p.F482F NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 2722 Cadherin 25. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 AACCCCTTTTCGTGAGGCCTC 0.602000 2 4 0 0 1 0 0 FAIM3 9214 broad.mit.edu 37 1 207086375 207086375 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:207086375G>A uc001hey.3 - 2 565 c.386C>T c.(385-387)tCa>tTa p.S129L FAIM3_uc010prz.2_Missense_Mutation_p.S17L|FAIM3_uc021pif.1_Missense_Mutation_p.S129L|FAIM3_uc010psa.2_Missense_Mutation_p.S38L NM_005449 NP_005440 O60667 FAIM3_HUMAN Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA. 129 anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) CTCTTCCCATGATGGCTCGTA 0.463000 OREG0014185 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 127 63 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33517487 33517487 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:33517487G>A uc002nuf.3 - 2 303 c.237C>T c.(235-237)ttC>ttT p.F79F RHPN2_uc010xro.2_5'UTR|RHPN2_uc002nue.3_5'UTR NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA. 79 signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) CTGAGTTGACGAAGCTCAGCT 0.562000 72 51 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78547326 78547326 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:78547326A>C uc004akc.2 + 1 762 c.224A>C c.(223-225)tAc>tCc p.Y75S PCSK5_uc004ajy.2_Missense_Mutation_p.Y75S|PCSK5_uc004ajz.3_Missense_Mutation_p.Y75S|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 75 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TACCACTTCTACCATAGCAGG 0.448000 44 13 0 0 1 0 0 LOC338579 338579 broad.mit.edu 37 10 45669997 45669997 + RNA SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:45669997A>G uc001jcb.1 + 7 c.1076A>G LOC338579_uc009xmr.1_Non-coding_Transcript Homo sapiens ankyrin repeat domain-containing protein 30B pseudogene (LOC338579), non-coding RNA. TGGGTACTACAAAAGGAACTA 0.333000 4 7 0 0 1 0 0 NDRG2 57447 broad.mit.edu 37 14 21488717 21488717 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:21488717C>T uc001vyy.3 - 8 643 c.493G>A c.(493-495)Ggt>Agt p.G165S NDRG2_uc010tll.2_Missense_Mutation_p.G161S|NDRG2_uc001vyt.3_Missense_Mutation_p.G78S|NDRG2_uc001vyu.3_Intron|NDRG2_uc001vyv.3_Missense_Mutation_p.G151S|NDRG2_uc001vyw.3_Missense_Mutation_p.G151S|NDRG2_uc001vzb.3_Missense_Mutation_p.G105S|NDRG2_uc001vyx.3_Missense_Mutation_p.G165S|NDRG2_uc001vza.3_Missense_Mutation_p.G151S|NDRG2_uc001vyz.3_Missense_Mutation_p.G151S|NDRG2_uc001vzc.3_Missense_Mutation_p.G151S|NDRG2_uc010aig.3_Missense_Mutation_p.G165S|NDRG2_uc001vze.3_Missense_Mutation_p.G165S|NDRG2_uc001vzd.3_Missense_Mutation_p.G165S|NDRG2_uc001vzg.3_Missense_Mutation_p.G151S|NDRG2_uc001vzf.3_Missense_Mutation_p.G151S NM_201540 NP_963834 Q9UN36 NDRG2_HUMAN Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA. 165 cell differentiation|nervous system development Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) AGGACAAGACCTTCAACAGTG 0.562000 17 7 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79662080 79662080 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:79662080C>T uc002kbg.3 + 12 1237 c.1102C>T c.(1102-1104)Ccc>Tcc p.P368S NM_004712 NP_004703 O14964 HGS_HUMAN Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA. 368 Interaction with SNX1 (By similarity).|Pro-rich. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|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) GCACGCAGCCCCCACCAACGT 0.682000 50 31 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160807914 160807914 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:160807914G>A uc002ube.2 - 23 3689 c.3477C>T c.(3475-3477)tcC>tcT p.S1159S PLA2R1_uc010zcp.2_Silent_p.S1159S|PLA2R1_uc002ubf.3_Silent_p.S1159S NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 1159 C-type lectin 7. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding p.S1159S(2) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CAGTGAGGAAGGACTGGTGAT 0.438000 86 24 0 0 1 0 0 HAUS6 54801 broad.mit.edu 37 9 19093291 19093291 + Missense_Mutation SNP C A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:19093291C>A uc003znk.3 - 3 567 c.314G>T c.(313-315)gGa>gTa p.G105V HAUS6_uc022bdv.1_5'UTR|HAUS6_uc003znl.1_5'UTR NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA. 105 cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AAAGCTACTTCCACATTCACC 0.333000 30 26 2.4375e-19 2.47308e-19 1 1 0 UPP2 151531 broad.mit.edu 37 2 158962636 158962636 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:158962636C>T uc002tzo.3 + 3 279 c.259C>T c.(259-261)Cct>Tct p.P87S UPP2_uc002tzp.3_Missense_Mutation_p.P30S NM_001135098 NP_775491 O95045 UPP2_HUMAN Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA. 30 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity p.A87D(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 CGTTAAAAATCCTTACTTGGA 0.318000 15 8 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31123775 31123775 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:31123775G>A uc003tca.2 + 6 637 c.348G>A c.(346-348)cgG>cgA p.R116R ADCYAP1R1_uc003tcg.3_Silent_p.R116R|ADCYAP1R1_uc003tce.2_Silent_p.R116R|ADCYAP1R1_uc003tcb.2_Silent_p.R95R|ADCYAP1R1_uc003tcc.2_Silent_p.R116R|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 116 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 TGGTGAGCCGGAACTGCACGG 0.483000 52 33 0 0 1 0 0 CRYZ 1429 broad.mit.edu 37 1 75172072 75172072 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:75172072C>T uc001dgk.3 - 9 1403 c.898G>A c.(898-900)Ggt>Agt p.G300S CRYZ_uc001dgj.3_Missense_Mutation_p.G300S|CRYZ_uc001dgl.3_Missense_Mutation_p.G266S|CRYZ_uc001dgm.3_Missense_Mutation_p.G163S NM_001130042 NP_001880 Q08257 QOR_HUMAN Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA. 300 protein homotetramerization|visual perception|xenobiotic catabolic process Golgi apparatus|cytosol NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicumarol(DB00266) TATTGAGAACCTATCACAGGT 0.388000 72 35 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488755 20488755 + RNA SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:20488755G>A uc001ytf.1 + 1 c.238G>A Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. TTAGATTACTGATTTTGGGCA 0.398000 72 12 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138264082 138264082 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:138264082C>T uc003vuc.3 + 14 2605 c.2390C>T c.(2389-2391)tCc>tTc p.S797F TRIM24_uc003vub.3_Missense_Mutation_p.S763F NM_015905 NP_056989 O15164 TIF1A_HUMAN Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA. 797 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 CAGGACAATTCCTCAAATGGA 0.473000 124 55 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9017514 9017514 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:9017514C>T uc002mkp.3 - 25 38014 c.37810G>A c.(37810-37812)Gag>Aag p.E12604K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12606 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCATCCTTCTCGGACCTGAGG 0.527000 18 42 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9236773 9236773 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:9236773A>C uc010xkl.2 - 0 854 c.854T>G c.(853-855)cTg>cGg p.L285R NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GAGTGGGTTCAGCATGGGGGT 0.473000 54 32 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153073876 153073876 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:153073876C>T uc004fja.1 - 1 485 c.235G>A c.(235-237)Gag>Aag p.E79K PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fiz.1_Missense_Mutation_p.E79K|PDZD4_uc004fix.2_5'UTR|PDZD4_uc011mze.1_Intron NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 79 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATGATATGCTCGAAGGTGATG 0.662000 9 21 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41561563 41561563 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:41561563C>T uc003xok.3 - 19 2375 c.2291G>A c.(2290-2292)aGc>aAc p.S764N NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S72N|ANK1_uc003xoi.3_Missense_Mutation_p.S764N|ANK1_uc003xoj.3_Missense_Mutation_p.S764N|ANK1_uc003xol.3_Missense_Mutation_p.S764N|ANK1_uc003xom.3_Missense_Mutation_p.S797N NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 764 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACTCACCGAGCTGACCTCGTT 0.547000 60 47 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54964031 54964031 + Missense_Mutation SNP G A A rs112699956 TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:54964031G>A uc001sgd.2 + 5 877 c.484G>A c.(484-486)Gat>Aat p.D162N PDE1B_uc010soz.2_Missense_Mutation_p.D25N|PDE1B_uc010spa.1_Missense_Mutation_p.D121N|PDE1B_uc001sge.3_Missense_Mutation_p.D142N|PDE1B_uc001sgf.3_Missense_Mutation_p.D25N|PDE1B_uc009znq.3_5'UTR NM_000924 NP_000915 Q01064 PDE1B_HUMAN Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA. 162 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 ATAGAACCTGGATCTCTGGTG 0.458000 47 22 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238726726 238726726 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:238726726G>A uc002vxi.4 + 2 1299 c.1167G>A c.(1165-1167)tcG>tcA p.S389S NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN Homo sapiens RNA binding motif protein 44 (RBM44), mRNA. 388 RNA binding|nucleotide binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TTGATGATTCGATAATTTCTG 0.388000 50 36 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924640 188924640 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:188924640G>A uc003izh.1 + 3 1087 c.679G>A c.(679-681)Gtt>Att p.V227I ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc021xvm.1_Missense_Mutation_p.V227I NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 227 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GAAAGCGTTCGTTGAGAGCTC 0.502000 47 37 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486595 125486595 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:125486595G>A uc004bmu.1 + 0 327 c.327G>A c.(325-327)ggG>ggA p.G109G NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA. 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G109R(2) breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 TGGCATTTGGGAACACTGACA 0.483000 72 62 0 0 1 0 0 MAFB 9935 broad.mit.edu 37 20 39317166 39317166 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr20:39317166C>T uc002xji.3 - 0 711 c.325G>A c.(325-327)Gaa>Aaa p.E109K NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB), mRNA. 109 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(1)|large_intestine(1) 2 Myeloproliferative disorder(115;0.00878) ATGAGCGCTTCCACCGCGTCC 0.632000 T IGH@ MM 69 20 0 0 1 0 0 FAM13B 51306 broad.mit.edu 37 5 137289908 137289908 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:137289908G>A uc003lbz.2 - 13 2133 c.1599C>T c.(1597-1599)ttC>ttT p.F533F FAM13B_uc003lcb.2_Silent_p.F437F|FAM13B_uc003lca.2_Silent_p.F533F NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA. 533 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 GATCATGTAGGAAACGCTGGC 0.403000 60 22 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330300 125330300 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:125330300G>A uc004bmp.1 - 0 457 c.457C>T c.(457-459)Cct>Tct p.P153S NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGGAGGTGAGGAAATGAGCAG 0.547000 54 30 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725246 87725246 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:87725246C>T uc003pli.3 + 1 897 c.194C>T c.(193-195)gCc>gTc p.A65V HTR1E_uc021zcg.1_Missense_Mutation_p.A65V NM_000865 NP_000856 P28566 5HT1E_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA. 65 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TGTTCTCTGGCCGTGACGGAC 0.552000 32 45 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908219 164908219 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:164908219C>T uc003fej.4 - 1 844 c.400G>A c.(400-402)Gaa>Aaa p.E134K SLITRK3_uc003fek.3_Missense_Mutation_p.E134K|SLITRK3_uc021xgy.1_Missense_Mutation_p.E134K NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 134 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 AGTTTGTTTTCATGTAGATAT 0.368000 HNSCC(40;0.11) 41 21 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415686 86415686 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:86415686C>T uc003uid.3 + 2 1677 c.578C>T c.(577-579)cCc>cTc p.P193L GRM3_uc010lef.3_Missense_Mutation_p.P191L|GRM3_uc010leg.3_Missense_Mutation_p.P65L|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 193 synaptic transmission integral to plasma membrane p.P192L(1) 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) ACCGTGCCCCCCGACTTCTAC 0.572000 161 58 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63269214 63269214 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:63269214C>T uc001xfx.3 - 8 1706 c.1655G>A c.(1654-1656)cGa>cAa p.R552Q KCNH5_uc001xfy.3_Missense_Mutation_p.R552Q|KCNH5_uc001xfz.1_Missense_Mutation_p.R494Q NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 552 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GCTGGCCAATCGAAAAGCAGG 0.498000 74 27 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71197432 71197432 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:71197432G>A uc001xmm.3 - 11 2980 c.2980C>T c.(2980-2982)Cgg>Tgg p.R994W MAP3K9_uc010ttk.2_Missense_Mutation_p.R722W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R727W|MAP3K9_uc001xml.3_Missense_Mutation_p.R1008W NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 994 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.D994N(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GGACGCGGCCGAGGCAGAAAC 0.627000 57 24 0 0 1 0 0 ZNF641 121274 broad.mit.edu 37 12 48738482 48738482 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:48738482G>A uc001rrn.2 - 5 724 c.462C>T c.(460-462)ccC>ccT p.P154P ZNF641_uc001rro.2_Silent_p.P140P|ZNF641_uc010sls.2_Silent_p.P131P NM_152320 NP_001166152 Q96N77 ZN641_HUMAN Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA. 154 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TGTCCAGTTTGGGAATTGGAA 0.408000 42 28 0 0 1 0 0 FZD9 8326 broad.mit.edu 37 7 72848928 72848928 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:72848928G>A uc003tyb.3 + 0 820 c.591G>A c.(589-591)gaG>gaA p.E197E NM_003508 NP_003499 O00144 FZD9_HUMAN Homo sapiens frizzled family receptor 9 (FZD9), mRNA. 197 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) GCACCTGCGAGAACCCCGAGA 0.751000 10 12 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139391526 139391527 + Missense_Mutation DNP GG AA AA TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:139391526_139391527GG>AA uc004chz.3 - 33 6664_6665 c.6664_6665CC>TT c.(6664-6666)ccg>TTg p.P2222L NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 2222 Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.S2163_T2283del(2)|p.K2182fs*61(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTGCTGGAACGGGGAGGGCAGC 0.688000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 27 17 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108363309 108363309 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:108363309C>T uc003dxd.3 + 13 1862 c.1440C>T c.(1438-1440)ttC>ttT p.F480F DZIP3_uc003dxf.1_Silent_p.F480F|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Silent_p.F480F|DZIP3_uc003dxg.1_Silent_p.F203F NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA. 480 protein polyubiquitination cytoplasm RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TAAATGTGTTCCCTGCACCCA 0.418000 89 43 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8752548 8752548 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:8752548C>T uc001mgt.3 - 2 475 c.289G>A c.(289-291)Gcc>Acc p.A97T ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Missense_Mutation_p.A97T|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.A97T NM_213618 NP_998783 P78524 ST5_HUMAN Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA. 97 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CCGAAGCTGGCGGTCTTGAAG 0.612000 79 4 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167379611 167379611 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:167379611G>A uc010jjd.3 + 3 731 c.731G>A c.(730-732)aGc>aAc p.S244N ODZ2_uc021yhi.1_Missense_Mutation_p.S174N|ODZ2_uc003lzq.2_Missense_Mutation_p.S123N|ODZ2_uc003lzr.4_Missense_Mutation_p.S53N NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AACCACCACAGCCAGTCGACT 0.547000 14 4 0 0 1 0 0 C1QC 714 broad.mit.edu 37 1 22974015 22974015 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:22974015C>T uc001bgc.4 + 2 580 c.477C>T c.(475-477)acC>acT p.T159T C1QC_uc001bga.4_Silent_p.T159T NM_172369 NP_758957 P02747 C1QC_HUMAN Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA. 159 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCAAGTTCACCTGCAAAGTCC 0.592000 58 13 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98363750 98363750 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:98363750C>T uc001kmq.3 - 14 2355 c.2227G>A c.(2227-2229)Gaa>Aaa p.E743K PIK3AP1_uc001kmo.3_Missense_Mutation_p.E342K|PIK3AP1_uc001kmp.3_Missense_Mutation_p.E565K NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA. 743 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TTGTCCCCTTCCATCCCGCTG 0.552000 3 4 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453936 84453936 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr13:84453936G>A uc001vlk.3 - 0 2593 c.1707C>T c.(1705-1707)ttC>ttT p.F569F NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 569 LRRCT 2. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AGAGGAGCATGAAATCCTTTC 0.527000 24 10 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55543745 55543745 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:55543745G>A uc002qik.3 - 2 115 c.87C>T c.(85-87)tcC>tcT p.S29S GP6_uc002qil.3_Silent_p.S29S|GP6_uc010esq.3_Silent_p.S29S|RDH13_uc010esr.1_Intron NM_016363 NP_057447 Q9HCN6 GPVI_HUMAN Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA. 29 Ig-like C2-type 1. enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) GAGCCTGGAGGGAGGGCTTGG 0.721000 21 13 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339669 55339669 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:55339669G>A uc010rih.2 + 0 66 c.66G>A c.(64-66)aaG>aaA p.K22K NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) CTTTTTGGAAGAAAATAGTGT 0.398000 61 30 0 0 1 0 0 CLEC4E 26253 broad.mit.edu 37 12 8688796 8688796 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:8688796G>A uc001quo.1 - 4 543 c.378C>T c.(376-378)ttC>ttT p.F126F NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA. 126 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TGTAGGAAAGGAATTCCTATG 0.373000 47 14 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114462380 114462380 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:114462380G>A uc003kqs.3 - 9 2516 c.2007C>T c.(2005-2007)ttC>ttT p.F669F TRIM36_uc011cwc.2_Silent_p.F657F|TRIM36_uc003kqt.3_Silent_p.F514F NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA. 669 B30.2/SPRY. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CACAGTCAAGGAAAATCCCAA 0.373000 48 21 0 0 1 0 0 DGCR14 8220 broad.mit.edu 37 22 19130241 19130241 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:19130241G>A uc002zou.3 - 1 339 c.302C>T c.(301-303)cCc>cTc p.P101L NM_022719 NP_073210 Q96DF8 DGC14_HUMAN Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA. 101 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) CCTCATACAGGGTGGCGGGGG 0.577000 88 25 0 0 1 0 0 PCDP1 200373 broad.mit.edu 37 2 120388191 120388191 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:120388191C>T uc002tmb.3 + 18 2031 c.919C>T c.(919-921)Cac>Tac p.H307Y PCDP1_uc010yyq.2_Missense_Mutation_p.H437Y NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 593 cilium calmodulin binding Colorectal(110;0.196) ATTCTCTGTCCACAAGTCTTC 0.423000 26 12 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66982433 66982433 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:66982433G>A uc002jhu.3 - 31 4223 c.4080C>T c.(4078-4080)ccC>ccT p.P1360P ABCA9_uc010dez.3_Silent_p.P1322P NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA. 1360 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity p.E1359K(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GGAAGCCCAGGGGTTCCCCTC 0.517000 52 34 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28023530 28023530 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:28023530C>T uc001ity.4 - 4 918 c.693G>A c.(691-693)ttG>ttA p.L231L MKX_uc001itx.4_Silent_p.L231L NM_173576 NP_775847 Q8IYA7 MKX_HUMAN Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. 231 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TGACATGTCTCAAAGAGTCAT 0.478000 94 48 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231993 7231993 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:7231993G>A uc010wzk.2 + 0 857 c.857G>A c.(856-858)gGg>gAg p.G286E NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 286 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CTGGTGGAGGGGGGCCTGGAG 0.582000 151 64 0 0 1 0 0 FZD9 8326 broad.mit.edu 37 7 72849776 72849776 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:72849776C>T uc003tyb.3 + 0 1668 c.1439C>T c.(1438-1440)gCc>gTc p.A480V NM_003508 NP_003499 O00144 FZD9_HUMAN Homo sapiens frizzled family receptor 9 (FZD9), mRNA. 480 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) CGCCTTCGGGCCACAGAGCAG 0.657000 48 28 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205085105 205085105 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:205085105G>A uc010prd.2 - 0 312 c.31C>T c.(31-33)Cgt>Tgt p.R11C RBBP5_uc010pre.2_Intron|RBBP5_uc001hbu.2_Intron|RBBP5_uc001hbv.2_Intron NM_005057 NP_005048 Q15291 RBBP5_HUMAN Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA. 0 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) CTGACAAAACGAAAAGGGGGA 0.423000 52 18 0 0 1 0 0 HBG1 3047 broad.mit.edu 37 11 5275535 5275535 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr11:5275535G>A uc001mai.1 - 1 739 c.302C>T c.(301-303)cCt>cTt p.P101L HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.P101L NM_000559 NP_000550 P69891 HBG1_HUMAN Homo sapiens hemoglobin, gamma A (HBG1), mRNA. 101 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding large_intestine(1)|lung(3)|skin(1) 5 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGTTCTCAGGATCCACATG 0.502000 81 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048383 9048383 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:9048383G>A uc002mkp.3 - 4 33452 c.33248C>T c.(33247-33249)tCa>tTa p.S11083L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11085 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAACAGCTGAGCTGGCTTC 0.488000 64 13 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158326582 158326582 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:158326582C>T uc001fse.3 + 5 1356 c.1063C>T c.(1063-1065)Cag>Tag p.Q355* CD1E_uc001fsh.3_Nonsense_Mutation_p.Q154*|CD1E_uc001fry.3_Nonsense_Mutation_p.Q288*|CD1E_uc001fsf.3_Nonsense_Mutation_p.Q343*|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Nonsense_Mutation_p.Q256*|CD1E_uc001fsj.3_Nonsense_Mutation_p.Q198*|CD1E_uc001fsk.3_Nonsense_Mutation_p.Q265*|CD1E_uc001fsa.3_Nonsense_Mutation_p.Q111*|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Nonsense_Mutation_p.Q253*|CD1E_uc010pig.2_Nonsense_Mutation_p.Q99*|CD1E_uc001fsc.3_Nonsense_Mutation_p.Q166*|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_Silent_p.L69L NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 355 antigen processing and presentation|immune response Golgi membrane|early endosome|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) AGCCAACACTCAGGACACCAA 0.433000 61 28 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161130935 161130935 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:161130935C>T uc010pkc.2 + 2 882 c.505C>T c.(505-507)Ctg>Ttg p.L169L USP21_uc010pkd.2_Silent_p.L169L NM_001014443 NP_036607 Q9UK80 UBP21_HUMAN Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA. 169 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ACCCCCTACCCTGTTCAGCAT 0.612000 43 25 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35700639 35700639 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:35700639C>T uc003jjo.3 + 15 2294 c.2183C>T c.(2182-2184)cCa>cTa p.P728L SPEF2_uc003jjq.4_Missense_Mutation_p.P723L|SPEF2_uc003jjp.1_Missense_Mutation_p.P214L NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 728 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATGGTTTTCCAATGACTTTA 0.368000 50 19 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24788604 24788604 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:24788604G>A uc001wow.3 - 21 3191 c.2772C>T c.(2770-2772)atC>atT p.I924I ADCY4_uc010toh.2_Silent_p.I610I|ADCY4_uc001wox.3_Silent_p.I924I|ADCY4_uc001woy.3_Silent_p.I924I NM_001198568 NP_001185497 Q8NFM4 ADCY4_HUMAN Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA. 924 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CGATGGTCTTGATCTTCTCCA 0.532000 61 29 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154808 22154808 + Missense_Mutation SNP A G G TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:22154808A>G uc021urr.1 - 3 3177 c.3028T>C c.(3028-3030)Ttc>Ctc p.F1010L ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. p.E1010D(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GACCAGTTGAAAGCTTTGCCA 0.398000 58 25 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30860859 30860859 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr22:30860859G>A uc003ahy.3 - 7 701 c.612C>T c.(610-612)ctC>ctT p.L204L SEC14L3_uc003ahz.3_Silent_p.L127L|SEC14L3_uc003aia.3_Silent_p.L145L|SEC14L3_uc003aib.3_Silent_p.L145L NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 204 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) ATGGCTTCATGAGGTTGTAGC 0.443000 74 55 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430723 37430723 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:37430723G>A uc021ppc.1 + 6 829 c.730G>A c.(730-732)Gaa>Aaa p.E244K ANKRD30A_uc001iza.1_Missense_Mutation_p.E244K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 300 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E244K(2)|p.E244G(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAGCTTGGTGGAAAAAACACC 0.507000 44 15 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11687031 11687031 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr17:11687031C>T uc002gne.3 + 39 7855 c.7787C>T c.(7786-7788)aCg>aTg p.T2596M DNAH9_uc010coo.3_Missense_Mutation_p.T1890M NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2596 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.T2596M(2) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATGAACCCCACGGCAGGCAGC 0.507000 13 16 0 0 1 0 0 ERVW-1 30816 broad.mit.edu 37 7 92098549 92098549 + Nonsense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:92098549G>A uc022ahe.1 - 0 1147 c.1147C>T c.(1147-1149)Cga>Tga p.R383* NM_014590 NP_055405 Q9UQF0 ENW1_HUMAN Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA. 383 Immunosuppression (By similarity). syncytium formation integral to membrane|plasma membrane|virion p.R383*(2) endometrium(1)|large_intestine(1)|lung(15) 17 aaagctcttcgattttgaagg 0.448000 32 24 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101005784 101005784 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:101005784C>T uc001thu.3 + 5 536 c.310C>T c.(310-312)Cca>Tca p.P104S GAS2L3_uc009zty.3_Missense_Mutation_p.P104S|GAS2L3_uc001thv.3_5'UTR NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA. 104 CH. cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CCAGAATTTTCCAATGAGAAA 0.353000 57 31 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1686902 1686903 + Missense_Mutation DNP GG AA AA TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:1686902_1686903GG>AA uc001aic.3 - 6 820_821 c.598_599CC>TT c.(598-600)ccg>TTg p.P200L NADK_uc001aid.4_Missense_Mutation_p.P200L|NADK_uc001aie.3_Missense_Mutation_p.P345L|NADK_uc010nyv.2_Missense_Mutation_p.P168L|NADK_uc009vkx.1_Missense_Mutation_p.P78L NM_023018 NP_075394 O95544 NADK_HUMAN Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA. 200 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|NAD+ kinase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) GGCCATGACCGGAGGGACGCTG 0.619000 107 51 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34276406 34276406 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:34276406G>A uc001bxm.1 - 9 1561 c.1384C>T c.(1384-1386)Ccc>Tcc p.P462S CSMD2_uc001bxn.1_Missense_Mutation_p.P422S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 422 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TACTGAATGGGGAAATTGGGG 0.542000 84 28 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367283 248367283 + Missense_Mutation SNP T C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:248367283T>C uc010pzg.2 + 0 914 c.914T>C c.(913-915)tTa>tCa p.L305S NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGAAGATCTTAGGAAAGGGC 0.418000 112 52 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956252 42956252 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:42956252C>T uc003cmk.2 + 3 951 c.765C>T c.(763-765)ttC>ttT p.F255F ZNF662_uc003cmi.2_Silent_p.F229F|ZNF662_uc003cmj.2_Silent_p.F121F NM_001134656 NP_001128128 Q6ZS27 ZN662_HUMAN Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA. 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) GGAAGGCTTTCAGTTTTCGAT 0.413000 108 23 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179380393 179380393 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:179380393G>A uc001gmo.3 + 11 1609 c.1222G>A c.(1222-1224)Gcc>Acc p.A408T AXDND1_uc001gmn.2_Missense_Mutation_p.A196T|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.A366T NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 408 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ATATGAATTGGCCCTGAAGGT 0.323000 79 48 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138661967 138661967 + Missense_Mutation SNP A T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:138661967A>T uc003ldw.3 + 14 3034 c.2631A>T c.(2629-2631)aaA>aaT p.K877N MATR3_uc003ldt.3_Missense_Mutation_p.K491N|MATR3_uc003ldu.3_Missense_Mutation_p.K829N|MATR3_uc010jfb.3_Missense_Mutation_p.K829N|MATR3_uc003ldx.3_Missense_Mutation_p.K829N|MATR3_uc003ldz.3_Missense_Mutation_p.K829N|MATR3_uc011czb.2_Missense_Mutation_p.K541N|MATR3_uc003leb.3_Missense_Mutation_p.K491N|MATR3_uc003lec.3_Missense_Mutation_p.K506N NM_018834 NP_954659 P43243 MATR3_HUMAN Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA. 829 nuclear inner membrane|nuclear matrix RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ATTATCAGAAATTAAAGGTAA 0.323000 45 26 0 0 1 0 0 GBP2 2634 broad.mit.edu 37 1 89579900 89579900 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:89579900G>A uc001dmz.1 - 6 1219 c.948C>T c.(946-948)gcC>gcT p.A316A GBP2_uc001dmy.1_Non-coding_Transcript NM_004120 NP_004111 P32456 GBP2_HUMAN Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA. 316 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) TCTGGGCCAAGGCCAGGACTG 0.547000 48 36 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130855797 130855797 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:130855797A>C uc001uik.3 + 19 2669 c.2398A>C c.(2398-2400)Aac>Cac p.N800H PIWIL1_uc001uij.2_Missense_Mutation_p.N800H NM_004764 NP_004755 Q96J94 PIWL1_HUMAN Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA. 800 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development P granule|chromatoid body mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CATCTATGACAACAGCGGCCT 0.453000 101 58 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139399982 139399982 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr9:139399982C>T uc004chz.3 - 24 4366 c.4366G>A c.(4366-4368)Gag>Aag p.E1456K NOTCH1_uc004cia.1_Missense_Mutation_p.E686K NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 1456 Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCCGCGTCCTCCTGGCACTCG 0.667000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 14 20 0 0 1 0 0 RGNEF 64283 broad.mit.edu 37 5 73205313 73205313 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:73205313G>A uc010izf.3 + 33 4414 c.4238G>A c.(4237-4239)gGc>gAc p.G1413D RGNEF_uc011csq.2_Missense_Mutation_p.G1413D|RGNEF_uc021yam.1_Missense_Mutation_p.G1413D|RGNEF_uc011csr.2_Missense_Mutation_p.G1100D|RGNEF_uc003kcz.4_Missense_Mutation_p.G377D|RGNEF_uc003kda.4_Missense_Mutation_p.G333D NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 1413 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) CTGTCTCTCGGCCACTCTATC 0.607000 17 13 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228155552 228155552 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:228155552G>A uc002vom.2 + 36 3322 c.3160G>A c.(3160-3162)Gga>Aga p.G1054R BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 1054 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGGAGATAAGGGAGAGCCAGG 0.493000 35 11 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140767861 140767861 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr5:140767861C>T uc003lkc.2 + 0 410 c.410C>T c.(409-411)tCc>tTc p.S137F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 137 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCAAAATTCCTTTGAGCTG 0.433000 34 26 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43534617 43534617 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:43534617C>T uc002lbm.3 - 1 851 c.751G>A c.(751-753)Gaa>Aaa p.E251K EPG5_uc002lbo.1_Missense_Mutation_p.E251K NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 251 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GGTACTAGTTCCAGTTGAGAC 0.463000 73 36 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21533018 21533018 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr18:21533018G>A uc002kuq.3 + 73 9887 c.9801G>A c.(9799-9801)caG>caA p.Q3267Q LAMA3_uc002kur.3_Silent_p.Q3211Q|LAMA3_uc002kus.4_Silent_p.Q1658Q|LAMA3_uc002kut.4_Silent_p.Q1602Q NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 3267 Laminin G-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCTGGACAGATCCCCTTCC 0.522000 75 42 0 0 1 0 0 CYP2U1 113612 broad.mit.edu 37 4 108870613 108870613 + Nonsense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr4:108870613C>T uc003hyp.3 + 3 1479 c.1396C>T c.(1396-1398)Cga>Tga p.R466* CYP2U1_uc011cfi.2_Nonsense_Mutation_p.R257* NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA. 466 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) CTACCCTAATCGATTTCTGGA 0.378000 35 15 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103136376 103136376 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:103136376G>A uc002tbz.4 + 8 2237 c.1780G>A c.(1780-1782)Gac>Aac p.D594N NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 594 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GTCCATAAGGGACATTCTGAC 0.448000 44 22 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38573667 38573667 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:38573667C>T uc002ohk.3 + 2 1971 c.1462C>T c.(1462-1464)Cgg>Tgg p.R488W NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 488 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GACGCAGAGTCGGCCCCGGCA 0.657000 31 8 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86278331 86278331 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:86278331G>A uc002blv.1 + 30 7561 c.7391G>A c.(7390-7392)aGa>aAa p.R2464K AKAP13_uc002blu.1_Missense_Mutation_p.R2468K|AKAP13_uc002blw.1_Missense_Mutation_p.R929K|AKAP13_uc002blx.1_Missense_Mutation_p.R709K NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 2464 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CTGCCCCGGAGAGCAGAGACC 0.502000 175 84 0 0 1 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177323 89177323 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chrX:89177323A>C uc022bzr.1 + 0 239 c.239A>C c.(238-240)gAa>gCa p.E80A TGIF2LX_uc004efe.3_Missense_Mutation_p.E80A NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA. 80 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 TACCCTTCAGAAGAAGAGAAG 0.473000 25 65 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510307 169510307 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:169510307G>A uc001ggg.1 - 12 4166 c.4021C>T c.(4021-4023)Cca>Tca p.P1341S NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 1341 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.P1341A(2) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTGAGTTCTGGAGAGAGGTTT 0.527000 208 94 0 0 1 0 0 KLHDC8B 200942 broad.mit.edu 37 3 49212334 49212334 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:49212334G>A uc003cwh.3 + 3 936 c.701G>A c.(700-702)gGg>gAg p.G234E KLHDC8B_uc003cwi.1_Missense_Mutation_p.G107E NM_173546 NP_775817 Q8IXV7 KLD8B_HUMAN Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA. 234 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCAGCCTGGGCCCCACAAC 0.617000 54 31 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295729 20295729 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr14:20295729G>A uc010tkv.2 + 0 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTCCCTGGAAATTTTCTC 0.448000 295 81 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33368105 33368105 + Nonsense_Mutation SNP A T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr21:33368105A>T uc002yph.3 + 9 1690 c.1330A>T c.(1330-1332)Aaa>Taa p.K444* NM_014586 NP_055401 P57058 HUNK_HUMAN Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA. 444 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity p.E443V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 AGAACAAGAAAAAAGAGGGGA 0.418000 85 27 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26243883 26243883 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:26243883G>A uc001isn.2 + 3 609 c.249G>A c.(247-249)ggG>ggA p.G83G MYO3A_uc009xko.1_Silent_p.G83G|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.G83G|MYO3A_uc001ism.2_Silent_p.G83G NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 83 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GATTCTATGGGATATACTTTA 0.373000 106 55 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59851890 59851890 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr8:59851890C>T uc003xtw.1 - 2 603 c.382G>A c.(382-384)Gga>Aga p.G128R NM_014729 NP_055544 O94900 TOX_HUMAN Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA. 128 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) AGCAGTGTTCCATCCTGGCCC 0.473000 59 47 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4217174 4217174 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:4217174G>A uc010dtt.1 + 17 2293 c.2017G>A c.(2017-2019)Gag>Aag p.E673K ANKRD24_uc002lzs.2_Missense_Mutation_p.E644K|ANKRD24_uc002lzt.2_Missense_Mutation_p.E645K NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 673 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CACAAACATGGAGGCCACGGG 0.612000 14 6 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830360 61830360 + Missense_Mutation SNP A C C TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr10:61830360A>C uc001jky.3 - 36 10617 c.10279T>G c.(10279-10281)Ttg>Gtg p.L3427V ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3427 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTCTCTGTCAAGCCATCATCT 0.463000 60 32 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107950319 107950319 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:107950319C>T uc001dvh.4 + 4 1794 c.1076C>T c.(1075-1077)tCc>tTc p.S359F NTNG1_uc001dvc.4_Missense_Mutation_p.S359F|NTNG1_uc010out.2_Missense_Mutation_p.S359F|NTNG1_uc001dvf.4_Missense_Mutation_p.S359F|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_Intron|NTNG1_uc001dvd.1_Missense_Mutation_p.S359F NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 359 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CCCAGTATTTCCAGTATTGGT 0.308000 70 19 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74468143 74468143 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:74468143C>T uc002axg.1 + 1 1226 c.944C>T c.(943-945)cCc>cTc p.P315L ISLR_uc002axh.1_Missense_Mutation_p.P315L|ISLR_uc021sqf.1_Missense_Mutation_p.P315L NM_005545 NP_958934 O14498 ISLR_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA. 315 Ig-like. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 CTGCTTATCCCCGACTTTGGC 0.662000 37 27 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81714125 81714125 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:81714125C>T uc003uhr.1 - 6 874 c.618G>A c.(616-618)caG>caA p.Q206Q NM_000722 NP_000713 P54289 CA2D1_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA. 206 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGCCAAAAACCTGCCACAATA 0.408000 55 41 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24421410 24421410 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:24421410G>A uc001bin.4 - 8 1024 c.861C>T c.(859-861)ccC>ccT p.P287P MYOM3_uc001bim.4_5'UTR|MYOM3_uc001bio.3_Silent_p.P287P|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 287 Ig-like C2-type 2. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ACAGGGAGAAGGGTTCCTTCT 0.557000 29 16 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130992377 130992377 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr3:130992377C>T uc003eny.3 + 16 2003 c.1677C>T c.(1675-1677)ttC>ttT p.F559F NEK11_uc003eoa.3_Intron|NEK11_uc003enz.3_Silent_p.F377F|NEK11_uc011blk.2_Silent_p.F375F|NEK11_uc011bll.2_Silent_p.F454F NM_024800 NP_079076 Q8NG66 NEK11_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA. 559 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 CACCAATTTTCAACAGTGTGA 0.478000 38 16 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142654986 142654986 + Missense_Mutation SNP C A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:142654986C>A uc003wcb.3 - 5 810 c.600G>T c.(598-600)caG>caT p.Q200H NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 200 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AATGGCCATACTGACTCATCA 0.517000 60 48 3.39706e-21 3.45295e-21 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158654955 158654955 + Silent SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:158654955G>A uc001fst.1 - 1 406 c.207C>T c.(205-207)atC>atT p.I69I NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 69 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.I69I(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTTTCTCCATGATCCACTtcc 0.448000 63 29 0 0 1 0 0 NUFIP1 26747 broad.mit.edu 37 13 45563313 45563313 + Missense_Mutation SNP G A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr13:45563313G>A uc001uzp.2 - 0 301 c.259C>T c.(259-261)Ccc>Tcc p.P87S KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.3_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.3_5'Flank NM_012345 NP_036477 Q9UHK0 NUFP1_HUMAN Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA. 87 Pro-rich. RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) TGCGCCCCGGGAAGAATCTGG 0.652000 16 9 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43045290 43045290 + Silent SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:43045290C>T uc001zqo.2 - 13 2593 c.2154G>A c.(2152-2154)gaG>gaA p.E718E TTBK2_uc010bcy.2_Silent_p.E649E NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 718 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GAGGTTCACCCTCTGTCACAA 0.468000 124 57 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37416129 37416129 + Missense_Mutation SNP C T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:37416129C>T uc002ofc.3 + 3 622 c.104C>T c.(103-105)tCc>tTc p.S35F ZNF568_uc010efg.3_Missense_Mutation_p.S35F|ZNF568_uc010xtn.2_5'UTR|ZNF568_uc021uts.1_Missense_Mutation_p.S35F|ZNF568_uc002ofd.3_5'UTR|ZNF568_uc010efe.3_Intron|ZNF568_uc010eff.2_Missense_Mutation_p.S21F NM_198539 NP_001191766 Q3ZCX4 ZN568_HUMAN Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA. 35 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTGCCCTTTCCGAGGAAGAA 0.418000 28 16 0 0 1 0 0 RPL22 6146 broad.mit.edu 37 1 6257784 6257785 + Frame_Shift_Ins INS - T T TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:6257784_6257785insT uc001amd.3 - 1 90_91 c.44_45insA c.(43-45)aagfs p.K15fs RPL22_uc001ame.3_Frame_Shift_Ins_p.K15fs NM_000983 NP_000974 P35268 RL22_HUMAN Homo sapiens ribosomal protein L22 (RPL22), mRNA. 15 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|heparin binding|structural constituent of ribosome p.K15fs*5(2) kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GAACTTGCTTCTTTTTTTTGCC 0.401 T RUNX1 """AML, CML""" --- 31 --- --- 12 --- PRG4 10216 broad.mit.edu 37 1 186276143 186276145 + In_Frame_Del DEL CTC - - TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr1:186276143_186276145delCTC uc001gru.4 + 6 1343_1345 c.1292_1294delCTC c.(1291-1296)actccc>acc p.P432del MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.P391del|PRG4_uc009wyl.3_In_Frame_Del_p.P339del|PRG4_uc009wym.3_In_Frame_Del_p.P298del|PRG4_uc010poo.2_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 432 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCACCCACCACTCCCAAGGAGCC 0.655 --- 197 --- --- 9 --- DNMT3A 1788 broad.mit.edu 37 2 25458594 25458595 + Frame_Shift_Ins INS - A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr2:25458594_25458595insA uc002rgc.3 - 21 2835_2836 c.2578_2579insT c.(2578-2580)tggfs p.W860fs DNMT3A_uc002rgd.3_Frame_Shift_Ins_p.W860fs|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Frame_Shift_Ins_p.W671fs NM_022552 NP_783328 Q9Y6K1 DNM3A_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA. 860 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.W860R(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCAGTGCACCATAAGATGTCC 0.510 """Mis, F, N, S""" AML --- 12 --- --- 22 --- FAXC 84553 broad.mit.edu 37 6 99790802 99790803 + Frame_Shift_Ins INS - A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr6:99790802_99790803insA uc003ppj.4 - 1 656_657 c.373_374insT c.(373-375)tatfs p.Y125fs FAXC_uc003ppi.4_5'UTR NM_032511 NP_115900 Q5TGI0 CF168_HUMAN Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA. 125 CATCCTTAAATAAGTTTCCATC 0.361 --- 38 --- --- 18 --- MLL3 58508 broad.mit.edu 37 7 151845985 151845985 + Frame_Shift_Del DEL C - - TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr7:151845985delC uc003wla.3 - 51 13246 c.13027delG c.(13027-13029)gaafs p.E4343fs MLL3_uc003wkz.3_Frame_Shift_Del_p.E3461fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.E501fs|MLL3_uc003wky.3_Frame_Shift_Del_p.E1907fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 4343 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CTGCAATCTTCAAACCCACCA 0.483 N medulloblastoma --- 59 --- --- 27 --- CDK17 5128 broad.mit.edu 37 12 96688890 96688901 + Splice_Site DEL TACAGAAACAGC - - rs151204882 byFrequency TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr12:96688890_96688901delTACAGAAACAGC uc001tep.2 - 10 1506 c.874_splice c.e10-1 p.L292_splice CDK17_uc009ztk.3_Splice_Site_p.L292_splice|CDK17_uc010svb.2_Splice_Site_p.L239_splice NM_002595 NP_002586 Q00537 CDK17_HUMAN Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA. 292 Protein kinase. ATP binding|cyclin-dependent protein kinase activity p.Y295N(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 TAGAATTTGGTACAGAAACAGCTACAGAAACA 0.354 --- 55 --- --- 11 --- TBC1D21 161514 broad.mit.edu 37 15 74181422 74181422 + Frame_Shift_Del DEL T - - TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr15:74181422delT uc002avz.3 + 10 1074 c.991delT c.(991-993)ttafs p.L331fs TBC1D21_uc010ulc.2_Frame_Shift_Del_p.L295fs NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA. 331 intracellular Rab GTPase activator activity p.L331I(2) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 TCCTCAGACATTAAAGGATTT 0.537 --- 19 --- --- 8 --- BRSK1 84446 broad.mit.edu 37 19 55813012 55813013 + Frame_Shift_Ins INS - A A TCGA-EB-A430-01A-11D-A24R-08 TCGA-EB-A430-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7776ae0a-1862-4ad8-82cf-fec550878c89 ebd64ba0-7354-455a-bc52-7588dab77dd6 g.chr19:55813012_55813013insA uc002qkf.3 + 9 986_987 c.859_860insA c.(859-861)gaafs p.E287fs BRSK1_uc021vbs.1_Frame_Shift_Ins_p.E271fs|BRSK1_uc002qkg.3_Frame_Shift_Ins_p.E271fs|BRSK1_uc002qkh.3_5'Flank|Mir_324_uc021vbt.1_5'Flank NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA. 271 G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.L286L(1)|p.L286I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) AGTGGAGCCCGAAAAAAGGCTC 0.584 --- 11 --- --- 6 ---