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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut VWA1 64856 broad.mit.edu 37 1 1372746 1372746 + Silent SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:1372746C>A uc001afs.2 + 2 733 c.513C>A c.(511-513)GGC>GGA p.G171G VWA1_uc001afr.2_5'UTR NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 171 VWFA. basement membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-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)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCAGCACCGGCCGAGGCAACT 0.632 NA 15 5 3.45872e-05 3.84302e-05 0.028581 1 0 C1orf94 84970 broad.mit.edu 37 1 34666416 34666416 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:34666416C>A uc001bxs.3 + 3 882 c.483C>A c.(481-483)AGC>AGA p.S161R C1orf94_uc001bxt.2_Missense_Mutation_p.S351R NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 161 protein binding 0 Myeloproliferative disorder(586;0.0393) GTCAAGGGAGCCTCTTTCTCA 0.592 NA 36 7 2.47316e-13 3.40059e-13 0.015359 1 0 TMEM53 79639 broad.mit.edu 37 1 45120854 45120854 + Missense_Mutation SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:45120854G>A uc001cmc.2 - 3 247 c.211C>T c.(211-213)CCG>TCG p.P71S TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_5'UTR|TMEM53_uc009vxh.1_Intron|TMEM53_uc010ola.1_Intron NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN transmembrane protein 53 71 integral to membrane ovary(2) 2 Acute lymphoblastic leukemia(166;0.155) ATGTGCCACGGGGCTGTGTAT 0.552 NA OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 29 0 0 0.024245 0 0 INADL 10207 broad.mit.edu 37 1 62235060 62235060 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:62235060G>T uc001dab.2 + 5 604 c.490G>T c.(490-492)GTG>TTG p.V164L INADL_uc009waf.1_Missense_Mutation_p.V164L|INADL_uc001daa.2_Missense_Mutation_p.V164L|INADL_uc001dad.3_5'Flank NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 164 PDZ 1. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 TGATATCTTCGTGAAGGATGT 0.398 NA 63 87 1.38705e-31 2.4609e-31 0.01441 1 0 SF3B4 10262 broad.mit.edu 37 1 149898433 149898433 + Missense_Mutation SNP C C G TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:149898433C>G uc001etj.1 - 3 592 c.541G>C c.(541-543)GAC>CAC p.D181H SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.D181H|SF3B4_uc009wll.1_Missense_Mutation_p.D181H NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 181 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCCTTGGAGTCCTTCTTGAAG 0.522 NA 34 43 0 0 0.017118 0 0 IL6R 3570 broad.mit.edu 37 1 154401899 154401899 + Missense_Mutation SNP A A T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:154401899A>T uc001fez.1 + 2 750 c.313A>T c.(313-315)ACT>TCT p.T105S IL6R_uc001ffa.1_Missense_Mutation_p.T105S NM_000565 NP_000556 P08887 IL6RA_HUMAN interleukin 6 receptor isoform 1 precursor 105 Extracellular (Potential).|Ig-like C2-type. acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity ovary(3)|breast(1) 4 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCCAGCTGGGACTGTGCACTT 0.587 NA 38 16 0 0 0.007835 0 0 VHLL 391104 broad.mit.edu 37 1 156268923 156268923 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:156268923C>A uc001fok.2 - 1 506 c.58G>T c.(58-60)GCA>TCA p.A20S NM_001004319 NP_001004319 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 20 protein ubiquitination nucleus ovary(1) 1 Hepatocellular(266;0.158) TCTGGGCCTGCCTCCTGGGTG 0.637 NA 27 78 2.2171e-23 3.75202e-23 0.009535 1 0 TNN 63923 broad.mit.edu 37 1 175048765 175048765 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:175048765G>T uc001gkl.1 + 3 819 c.706G>T c.(706-708)GAC>TAC p.D236Y TNN_uc010pmx.1_Missense_Mutation_p.D236Y NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 236 EGF-like 3. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTGTCCCGGCGACTGCAGCGG 0.667 NA 13 6 4.3838e-07 5.18514e-07 0.016723 1 0 RYR2 6262 broad.mit.edu 37 1 237777543 237777543 + Silent SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:237777543G>T uc001hyl.1 + 37 5235 c.5115G>T c.(5113-5115)CTG>CTT p.L1705L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1705 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACTATGACCTGCTGATTGACA 0.537 NA 60 24 3.07184e-27 5.36353e-27 0.01441 1 0 ABCC2 1244 broad.mit.edu 37 10 101560182 101560182 + Silent SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr10:101560182G>A uc001kqf.2 + 9 1210 c.1071G>A c.(1069-1071)TTG>TTA p.L357L NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 357 ABC transmembrane type-1 1.|Extracellular (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACACATATTTGTGGATTGGAT 0.453 NA 161 221 0 0 0.01441 0 0 GRK5 2869 broad.mit.edu 37 10 121196346 121196346 + Missense_Mutation SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr10:121196346G>A uc001led.2 + 9 1155 c.922G>A c.(922-924)GTC>ATC p.V308I GRK5_uc009xzh.2_Missense_Mutation_p.V203I|GRK5_uc010qta.1_Missense_Mutation_p.V203I NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 308 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TGAGAACACCGTCTACCGGTG 0.607 NA 10 9 0 0 0.006214 0 0 MKI67 4288 broad.mit.edu 37 10 129903806 129903806 + Missense_Mutation SNP T T C TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr10:129903806T>C uc001lke.2 - 13 6493 c.6298A>G c.(6298-6300)AAA>GAA p.K2100E MKI67_uc001lkf.2_Missense_Mutation_p.K1740E|MKI67_uc009yav.1_Missense_Mutation_p.K1675E|MKI67_uc009yaw.1_Missense_Mutation_p.K1250E NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2100 16 X 122 AA approximate repeats.|10. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CAGGCTATTTTGGTAGTTTTG 0.483 NA 161 224 0 0 0.01441 0 0 MKI67 4288 broad.mit.edu 37 10 129905293 129905293 + Nonsense_Mutation SNP G G C TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr10:129905293G>C uc001lke.2 - 13 5006 c.4811C>G c.(4810-4812)TCA>TGA p.S1604* MKI67_uc001lkf.2_Nonsense_Mutation_p.S1244*|MKI67_uc009yav.1_Nonsense_Mutation_p.S1179*|MKI67_uc009yaw.1_Nonsense_Mutation_p.S754* NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1604 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTTAGTCATTGATTCCTCAGT 0.498 NA 79 119 0 0 0.01441 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128838914 128838914 + Missense_Mutation SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr11:128838914G>A uc009zcp.2 - 22 6152 c.6152C>T c.(6151-6153)CCT>CTT p.P2051L ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.P1010L|ARHGAP32_uc001qez.2_Missense_Mutation_p.P1702L NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 2051 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GGGAAAGCCAGGGGGCACATA 0.577 NA 6 4 0 0 0.001984 0 0 KCNA5 3741 broad.mit.edu 37 12 5154154 5154155 + Nonsense_Mutation DNP CT CT TA TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr12:5154154_5154155CT>TA uc001qni.2 + 1 1070_1071 c.841_842CT>TA c.(841-843)CTG>TAG p.L281* NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 281 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TGAACGTGAGCTGCTCCGCCAC 0.693 NA 17 44 0 0 0.004672 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 15 14 0.00400662 0.00419742 0.028581 1 0 IPO8 10526 broad.mit.edu 37 12 30814173 30814173 + Missense_Mutation SNP T T A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr12:30814173T>A uc001rjd.2 - 16 1953 c.1783A>T c.(1783-1785)AGT>TGT p.S595C IPO8_uc001rje.1_Missense_Mutation_p.S84C|IPO8_uc010sjt.1_Missense_Mutation_p.S390C NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 595 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TATTCATCACTTTGAAGAACT 0.328 NA 28 28 0 0 0.027356 0 0 CCDC41 51134 broad.mit.edu 37 12 94772782 94772782 + Missense_Mutation SNP T T C TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr12:94772782T>C uc001tdd.2 - 7 1172 c.586A>G c.(586-588)AAC>GAC p.N196D CCDC41_uc001tde.2_Missense_Mutation_p.N196D|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.N196D NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 188 Potential. 0 AGCAGCTGGTTACGTAGTTCT 0.328 NA 55 28 0 0 0.01441 0 0 SOHLH2 54937 broad.mit.edu 37 13 36788621 36788621 + Missense_Mutation SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr13:36788621C>T uc001uvj.2 - 1 132 c.43G>A c.(43-45)GGC>AGC p.G15S SOHLH2_uc010tei.1_Intron NM_017826 NP_060296 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic 15 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CTTACCTGGCCCGAGATCTGG 0.672 NA 4 6 0 0 0.009096 0 0 TFDP1 7027 broad.mit.edu 37 13 114290924 114290925 + Missense_Mutation DNP GG GG TT TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr13:114290924_114290925GG>TT uc001vtw.2 + 10 1127_1128 c.915_916GG>TT c.(913-918)ATGGCT>ATTTCT p.305_306MA>IS TFDP1_uc010tkd.1_Missense_Mutation_p.210_211MA>IS|TFDP1_uc010tke.1_Missense_Mutation_p.210_211MA>IS|TFDP1_uc001vty.3_Missense_Mutation_p.305_306MA>IS|TFDP1_uc001vtx.2_Missense_Mutation_p.185_186MA>IS NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 305_306 DCB2.|Enhances binding of RB protein to E2F. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) GGATGGGCATGGCTTGCGGGCT 0.505 NA TSP Lung(29;0.18) 27 43 0 0 0.004672 0 0 OR4M2 390538 broad.mit.edu 37 15 22368728 22368728 + Silent SNP A A G TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr15:22368728A>G uc010tzu.1 + 1 153 c.153A>G c.(151-153)CTA>CTG p.L51L LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCATCAGTCTAGACCCTCATC 0.418 NA 97 814 0 0 0.01441 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40284993 40284993 + Missense_Mutation SNP A A T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr15:40284993A>T uc001zkm.1 + 18 2760 c.2710A>T c.(2710-2712)ACT>TCT p.T904S EIF2AK4_uc010bbj.1_Missense_Mutation_p.T605S|EIF2AK4_uc001zkn.1_Missense_Mutation_p.T4S NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 904 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GATGGTTGGCACTGCTCTCTA 0.418 NA 37 50 0 0 0.00874 0 0 ADAM10 102 broad.mit.edu 37 15 58889786 58889786 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr15:58889786C>A uc002afd.1 - 16 2651 c.2207G>T c.(2206-2208)CGG>CTG p.R736L ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.R435L|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 736 Cytoplasmic (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) CTCTCGGGGCCGCTGACGCTG 0.478 NA 21 35 3.28513e-13 4.46128e-13 0.021523 1 0 Unknown 0 broad.mit.edu 37 15 76074431 76074431 + Missense_Mutation SNP C C T rs149323153 by1000genomes TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr15:76074431C>T uc010umm.1 + 8 610 c.533C>T c.(532-534)TCG>TTG p.S178L uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; NA CTCCAGTCCTCGAGCTGCAGA 0.547 NA 3 26 0 0 0.021553 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 3 11 0 0 0.009096 0 0 ADCY9 115 broad.mit.edu 37 16 4057495 4057495 + Silent SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr16:4057495G>A uc002cvx.2 - 3 2297 c.1758C>T c.(1756-1758)GCC>GCT p.A586A NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 586 Cytoplasmic (Potential). 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 CAGAAAGCAAGGCCTCTGCAC 0.527 NA 32 41 0 0 0.010818 0 0 ZNF276 92822 broad.mit.edu 37 16 89795695 89795695 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr16:89795695G>T uc002fos.3 + 6 1235 c.1138G>T c.(1138-1140)GAC>TAC p.D380Y ZNF276_uc010ciq.2_Missense_Mutation_p.D166Y|ZNF276_uc002fop.2_Missense_Mutation_p.D288Y|ZNF276_uc002foq.3_Missense_Mutation_p.D305Y|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.D166Y|ZNF276_uc010cis.2_Missense_Mutation_p.D139Y|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.D218Y|ZNF276_uc010cit.1_Missense_Mutation_p.D139Y NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CCAGTCTTCGGACGAGTCCTT 0.547 NA 37 40 5.04308e-16 7.49647e-16 0.025465 1 0 SREBF1 6720 broad.mit.edu 37 17 17720399 17720399 + Missense_Mutation SNP T T C TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr17:17720399T>C uc002gru.1 - 9 1852 c.1658A>G c.(1657-1659)AAT>AGT p.N553S SREBF1_uc002grp.1_Missense_Mutation_p.N172S|SREBF1_uc002grq.1_Missense_Mutation_p.N72S|SREBF1_uc002grr.1_Missense_Mutation_p.N299S|SREBF1_uc002grs.1_Missense_Mutation_p.N529S|SREBF1_uc002grt.1_Missense_Mutation_p.N583S NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 553 Helical; (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 CAACAGCCCATTGAGCAGCCA 0.627 NA 37 37 0 0 0.010771 0 0 CBX2 84733 broad.mit.edu 37 17 77758474 77758474 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr17:77758474G>T uc002jxc.2 + 5 1274 c.1232G>T c.(1231-1233)AGT>ATT p.S411I NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 411 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) ACAAGCAAAAGTGAGAAGCTG 0.662 NA 6 18 3.59834e-05 3.95817e-05 0.021553 1 0 L3MBTL4 91133 broad.mit.edu 37 18 6241361 6241361 + Missense_Mutation SNP C C G TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr18:6241361C>G uc002kmz.3 - 8 708 c.548G>C c.(547-549)AGT>ACT p.S183T L3MBTL4_uc010dkt.2_Missense_Mutation_p.S183T|L3MBTL4_uc002kmy.3_Missense_Mutation_p.S21T NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 183 MBT 2. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) ACTTACAGGACTTCTGTTTCT 0.289 Esophageal Squamous(41;748 902 17366 28959 43175) NA 73 128 0 0 0.01441 0 0 DSG3 1830 broad.mit.edu 37 18 29054174 29054174 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr18:29054174C>A uc002kws.2 + 15 2301 c.2192C>A c.(2191-2193)TCT>TAT p.S731Y DSG3_uc002kwt.2_Missense_Mutation_p.S13Y NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 731 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GCCACTGAATCTGGAGGTGCT 0.517 NA 20 37 5.45024e-15 7.99369e-15 0.01892 1 0 B4GALT6 9331 broad.mit.edu 37 18 29206995 29206995 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr18:29206995C>A uc002kwz.3 - 7 1163 c.866G>T c.(865-867)GGA>GTA p.G289V B4GALT6_uc010dma.2_Missense_Mutation_p.G250V|B4GALT6_uc010dmb.2_Missense_Mutation_p.G250V|B4GALT6_uc002kwy.3_5'Flank NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN beta-1,4-galactosyltransferase 6 289 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(10;0.00791) TCCTCCCCATCCCCAGAAGGC 0.338 NA 43 56 1.06522e-23 1.83085e-23 0.013114 1 0 PQLC1 80148 broad.mit.edu 37 18 77679237 77679237 + Silent SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr18:77679237C>A uc002lnl.2 - 5 727 c.555G>T c.(553-555)CTG>CTT p.L185L PQLC1_uc010dre.2_Silent_p.L102L|PQLC1_uc002lnk.2_Silent_p.L167L|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 185 PQ-loop 2.|Helical; (Potential). integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) GGGGCACACCCAGCATGGCTT 0.652 NA 13 23 5.50884e-06 6.24713e-06 0.013537 1 0 STK11 6794 broad.mit.edu 37 19 1220448 1220448 + Missense_Mutation SNP A A T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr19:1220448A>T uc002lrl.1 + 4 1656 c.541A>T c.(541-543)AAC>TAC p.N181Y NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 181 Protein kinase. N -> E (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; requires 2 nucleotide substitutions). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.Y156fs*87(4)|p.?(4) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGCCGGGGAACCTGCTGCT 0.662 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 6 1 0 0 0.021553 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4493990 4493990 + Missense_Mutation SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr19:4493990C>T uc002mao.2 + 8 943 c.850C>T c.(850-852)CTC>TTC p.L284F HDGFRP2_uc002map.2_Missense_Mutation_p.L284F|HDGFRP2_uc010dtz.1_RNA NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN hepatoma-derived growth factor-related protein 2 284 transcription, DNA-dependent nucleus DNA binding|protein binding 0 GGAGAAGCCTCTCCCGAAGCC 0.701 NA 5 1 0 0 0.014758 0 0 MUC16 94025 broad.mit.edu 37 19 9075084 9075084 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr19:9075084G>T uc002mkp.2 - 3 12566 c.12362C>A c.(12361-12363)ACT>AAT p.T4121N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4123 Thr-rich.|Extracellular (Potential).|Ser-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGCCAGTGGAGTCCCTGTCCA 0.502 NA 34 12 5.91797e-21 9.57318e-21 0.012213 1 0 OR7E24 26648 broad.mit.edu 37 19 9362240 9362240 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr19:9362240C>A uc002mlb.1 + 1 521 c.521C>A c.(520-522)TCC>TAC p.S174Y NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 174 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTTTTGGACTCCCAGTTGCAC 0.438 NA 14 8 0.00185496 0.00196197 0.016723 1 0 PSG11 5680 broad.mit.edu 37 19 43519460 43519460 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr19:43519460C>A uc002ovm.1 - 4 879 c.772G>T c.(772-774)GAC>TAC p.D258Y PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.D264Y|PSG11_uc002ovo.1_Missense_Mutation_p.D136Y|PSG11_uc002ovp.1_Missense_Mutation_p.D136Y NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 258 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) CAGGACAAGTCGAGGTTCTCT 0.448 NA 125 86 3.42828e-54 6.5019e-54 0.01441 1 0 CRX 1406 broad.mit.edu 37 19 48339553 48339553 + Nonsense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr19:48339553G>T uc002phq.3 + 3 358 c.154G>T c.(154-156)GAG>TAG p.E52* CRX_uc010elm.1_RNA NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 52 Homeobox. organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) GAGCCAACTGGAGGAGCTGGA 0.627 Pancreas(57;461 1196 22201 40716 47188) NA 26 9 3.01185e-09 3.72251e-09 0.021523 1 0 ZNF350 59348 broad.mit.edu 37 19 52468837 52468837 + Missense_Mutation SNP T T C TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr19:52468837T>C uc002pyd.2 - 5 1097 c.869A>G c.(868-870)TAT>TGT p.Y290C uc002pyb.2_Intron|uc002pyc.2_Intron NM_021632 NP_067645 Q9GZX5 ZN350_HUMAN zinc finger protein 350 290 C2H2-type 4. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(1) 1 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) ACTGCATATATAGGGTTTCTC 0.398 NA 3 95 0 0 0.004672 0 0 PXDN 7837 broad.mit.edu 37 2 1652105 1652105 + Silent SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr2:1652105C>T uc002qxa.2 - 17 3511 c.3447G>A c.(3445-3447)ACG>ACA p.T1149T NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1149 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCAGAGCCACCGTGTGTGCCA 0.652 NA 32 53 0 0 0.013726 0 0 APOB 338 broad.mit.edu 37 2 21234296 21234296 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr2:21234296C>A uc002red.2 - 26 5572 c.5444G>T c.(5443-5445)CGG>CTG p.R1815L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1815 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGGTTCTAGCCGTAGTTTCCC 0.413 NA 83 125 5.71386e-39 1.04754e-38 0.01441 1 0 PLB1 151056 broad.mit.edu 37 2 28748151 28748151 + Silent SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr2:28748151G>A uc002rmb.1 + 5 261 c.261G>A c.(259-261)ACG>ACA p.T87T PLB1_uc010ezj.1_Silent_p.T87T NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 87 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) ACCCAGGGACGGGCGATCTGG 0.353 NA 12 16 0 0 0.020292 0 0 TTC21B 79809 broad.mit.edu 37 2 166747433 166747433 + Missense_Mutation SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr2:166747433G>A uc002udk.2 - 23 3149 c.3016C>T c.(3016-3018)CCA>TCA p.P1006S TTC21B_uc002udj.1_RNA NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1006 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 AAAAATCTTGGGACATCCTCG 0.348 NA 25 36 0 0 0.01892 0 0 AQP12B 653437 broad.mit.edu 37 2 241621974 241621975 + Missense_Mutation DNP GG GG TT TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr2:241621974_241621975GG>TT uc010fzj.2 - 1 343_344 c.280_281CC>AA c.(280-282)CCC>AAC p.P94N AQP12B_uc002vzt.2_Intron NM_001102467 NP_001095937 A6NM10 AQ12B_HUMAN aquaporin 12B 82 integral to membrane transporter activity 0 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GGACACGGTGGGGTTGGCCGAG 0.698 NA 23 26 0 0 0.004672 0 0 SNED1 25992 broad.mit.edu 37 2 242009519 242009519 + Silent SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr2:242009519G>A uc002wah.1 + 24 3492 c.3492G>A c.(3490-3492)CTG>CTA p.L1164L SNED1_uc002wai.1_Silent_p.L399L|SNED1_uc002waj.1_Silent_p.L251L|SNED1_uc002wak.2_Silent_p.L251L|SNED1_uc002wal.2_5'Flank NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN 6720455I24Rik homolog precursor 1164 Fibronectin type-III 3. cell-matrix adhesion extracellular region calcium ion binding breast(1)|central_nervous_system(1) 2 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TGCGCGACCTGCTGCCGGGAC 0.632 NA 11 11 0 0 0.010729 0 0 TTLL9 164395 broad.mit.edu 37 20 30510852 30510852 + Missense_Mutation SNP A A G TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr20:30510852A>G uc010gdx.1 + 8 913 c.660A>G c.(658-660)ATA>ATG p.I220M TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.I107M|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 220 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CTTACCTGATAGGAGGTGAGA 0.483 NA 38 37 0 0 0.025465 0 0 SLC13A3 64849 broad.mit.edu 37 20 45221081 45221081 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr20:45221081C>A uc002xsf.1 - 6 920 c.882G>T c.(880-882)TGG>TGT p.W294C SLC13A3_uc010ghn.1_Missense_Mutation_p.W263C|SLC13A3_uc010zxw.1_Missense_Mutation_p.W244C|SLC13A3_uc002xsg.1_Missense_Mutation_p.W247C|SLC13A3_uc010gho.1_Missense_Mutation_p.W247C|SLC13A3_uc010zxx.1_Missense_Mutation_p.W196C NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 294 Helical; (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) AGATCCAGAGCCAGCCTGCCA 0.512 NA 14 21 0.000219431 0.000234344 0.020292 1 0 MC3R 4159 broad.mit.edu 37 20 54824041 54824041 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr20:54824041C>A uc002xxb.2 + 1 254 c.142C>A c.(142-144)CTG>ATG p.L48M NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 85 Helical; Name=1; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) TTTCCTGTCTCTGGGCATCGT 0.572 NA 40 45 4.67007e-22 7.66727e-22 0.00874 1 0 EEF1A2 1917 broad.mit.edu 37 20 62126186 62126186 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr20:62126186C>A uc002yfd.1 - 3 694 c.593G>T c.(592-594)GGT>GTT p.G198V EEF1A2_uc002yfe.1_Missense_Mutation_p.G198V|EEF1A2_uc010gkg.1_Missense_Mutation_p.G198V NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 198 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CATGTTGTCACCGTGCCAGCC 0.667 NA 17 16 4.96729e-08 6.00442e-08 0.008871 1 0 ADARB1 104 broad.mit.edu 37 21 46624492 46624492 + Nonsense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr21:46624492G>T uc002zgy.2 + 10 2143 c.1708G>T c.(1708-1710)GGA>TGA p.G570* ADARB1_uc002zgr.2_Nonsense_Mutation_p.G570*|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Nonsense_Mutation_p.G530*|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Nonsense_Mutation_p.G530*|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 570 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) GGGCATCCAGGGATCCCTGCT 0.592 NA 32 19 8.88839e-20 1.39675e-19 0.010818 1 0 OXTR 5021 broad.mit.edu 37 3 8809379 8809379 + Silent SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr3:8809379C>T uc003brc.2 - 3 1117 c.495G>A c.(493-495)CTG>CTA p.L165L NM_000916 NP_000907 P30559 OXYR_HUMAN oxytocin receptor 165 Helical; Name=4; (Potential). female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity 0 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) CGCTGGCCACCAGGCAGCCGA 0.711 NA 7 1 0 0 0.008291 0 0 MTMR14 64419 broad.mit.edu 37 3 9704014 9704014 + Silent SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr3:9704014G>T uc003brz.2 + 3 496 c.372G>T c.(370-372)CGG>CGT p.R124R MTMR14_uc003bsa.2_Silent_p.R124R|MTMR14_uc003bsb.2_Silent_p.R124R|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN jumpy isoform 2 124 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(99;0.227) AGATGGCCCGGTGCAGAGGAC 0.532 NA 18 6 2.35188e-11 2.97364e-11 0.006122 1 0 EPHA3 2042 broad.mit.edu 37 3 89448468 89448468 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr3:89448468C>A uc003dqy.2 + 7 1657 c.1432C>A c.(1432-1434)CAG>AAG p.Q478K EPHA3_uc003dqx.1_Missense_Mutation_p.Q478K|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 478 Extracellular (Potential).|Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GACCTCAAAGCAGGAACAAGA 0.343 NA TSP Lung(6;0.00050) 25 10 6.38683e-12 8.36371e-12 0.008361 1 0 SPATA18 132671 broad.mit.edu 37 4 52943040 52943040 + Missense_Mutation SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr4:52943040G>A uc003gzl.2 + 7 1132 c.854G>A c.(853-855)AGA>AAA p.R285K SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R253K|SPATA18_uc003gzk.1_Missense_Mutation_p.R285K NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 285 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) AAGGTCAGGAGACCGTCCCCA 0.667 NA 14 22 0 0 0.020292 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361157 70361157 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr4:70361157C>A uc003hek.3 - 1 470 c.423G>T c.(421-423)CAG>CAT p.Q141H UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.Q141H NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 141 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 ATCTTGACTCCTGTAGTTTCT 0.368 NA 7 15 5.18039e-06 5.93587e-06 0.00308 1 0 FRAS1 80144 broad.mit.edu 37 4 79428721 79428721 + Nonsense_Mutation SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr4:79428721C>T uc003hlb.2 + 62 9903 c.9463C>T c.(9463-9465)CAG>TAG p.Q3155* FRAS1_uc003hlc.1_Nonsense_Mutation_p.Q157* NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3150 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 AATTCTAGACCAGGAGGCAGC 0.512 NA 16 29 0 0 0.00499 0 0 ANK2 287 broad.mit.edu 37 4 114095577 114095577 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr4:114095577C>A uc003ibe.3 + 2 190 c.90C>A c.(88-90)GAC>GAA p.D30E ANK2_uc003ibd.3_Missense_Mutation_p.D9E|ANK2_uc003ibf.3_Missense_Mutation_p.D30E|ANK2_uc003ibc.2_Missense_Mutation_p.D6E|ANK2_uc011cgb.1_Missense_Mutation_p.D45E NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 30 ANK 1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CGCAGTCTGACAGCAATGCAA 0.403 NA 11 12 3.86212e-05 4.20627e-05 0.008291 1 0 ANK2 287 broad.mit.edu 37 4 114238920 114238920 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr4:114238920G>T uc003ibe.3 + 25 2851 c.2751G>T c.(2749-2751)AGG>AGT p.R917S ANK2_uc003ibd.3_Missense_Mutation_p.R896S|ANK2_uc003ibf.3_Missense_Mutation_p.R917S|ANK2_uc011cgc.1_Missense_Mutation_p.R126S|ANK2_uc003ibg.3_5'Flank|ANK2_uc003ibc.2_Missense_Mutation_p.R893S|ANK2_uc011cgb.1_Missense_Mutation_p.R932S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 917 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCTACCTGAGGGACAGTGCCG 0.498 NA 11 24 3.07112e-06 3.55603e-06 0.010729 1 0 SPATA5 166378 broad.mit.edu 37 4 123855380 123855380 + Missense_Mutation SNP A A T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr4:123855380A>T uc003iez.3 + 5 707 c.634A>T c.(634-636)ACT>TCT p.T212S SPATA5_uc003iey.2_Missense_Mutation_p.T211S NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 212 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 TGACTCTGACACTGATGCCCA 0.483 NA 32 48 0 0 0.017118 0 0 TRIO 7204 broad.mit.edu 37 5 14359507 14359507 + Missense_Mutation SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr5:14359507C>T uc003jff.2 + 13 2264 c.2258C>T c.(2257-2259)TCC>TTC p.S753F TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.S704F|TRIO_uc003jfh.1_Missense_Mutation_p.S402F NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 753 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CACAACAGCTCCATCAACCAC 0.547 NA 30 31 0 0 0.012213 0 0 CWC27 10283 broad.mit.edu 37 5 64267586 64267586 + Missense_Mutation SNP T T A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr5:64267586T>A uc003jtn.1 + 12 1318 c.1099T>A c.(1099-1101)TAT>AAT p.Y367N CWC27_uc010iwt.1_Missense_Mutation_p.Y367N NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 367 Potential. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 AAAGCAAAAGTATGAAGCTTT 0.373 NA 19 29 0 0 0.014323 0 0 LOC644936 644936 broad.mit.edu 37 5 79596032 79596032 + Missense_Mutation SNP T T A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr5:79596032T>A uc010jai.2 - 1 266 c.125A>T c.(124-126)TAC>TTC p.Y42F NR_004845 Homo sapiens cytoplasmic beta-actin pseudogene, mRNA (cDNA clone IMAGE:30378151). 0 GGTGAAGCTGTAGCCACACTG 0.547 NA 4 12 0 0 0.009096 0 0 GPR98 84059 broad.mit.edu 37 5 90020785 90020785 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr5:90020785G>T uc003kju.2 + 46 9981 c.9885G>T c.(9883-9885)CAG>CAT p.Q3295H GPR98_uc003kjt.2_Missense_Mutation_p.Q1001H|GPR98_uc003kjv.2_Missense_Mutation_p.Q895H NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3295 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACCGATGGCAGGGGATTTTTA 0.284 NA 15 24 7.93312e-07 9.28344e-07 0.020292 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140723683 140723683 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr5:140723683C>A uc003ljm.1 + 1 83 c.83C>A c.(82-84)TCC>TAC p.S28Y PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.S28Y NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 28 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAACAGGATCCGGTCAGATC 0.587 NA OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 110 1.92282e-43 3.58492e-43 0.01441 1 0 DRD1 1812 broad.mit.edu 37 5 174869091 174869091 + Silent SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr5:174869091G>T uc003mcz.2 - 2 1957 c.1012C>A c.(1012-1014)CGG>AGG p.R338R NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 338 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AATGCCTTCCGAAAATCAGCA 0.458 NA 36 66 3.03874e-20 4.84437e-20 0.015359 1 0 HIST1H4J 8363 broad.mit.edu 37 6 27792201 27792201 + Missense_Mutation SNP G G A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr6:27792201G>A uc003njp.2 + 1 299 c.299G>A c.(298-300)GGT>GAT p.G100D uc003njq.2_5'Flank NM_021968 NP_068803 P62805 H4_HUMAN histone cluster 1, H4j 100 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1)|pancreas(1) 2 ACCCTCTACGGTTTCGGTGGT 0.567 NA 6 23 0 0 0.016723 0 0 KIAA0240 23506 broad.mit.edu 37 6 42797677 42797677 + Nonsense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr6:42797677G>T uc003osn.1 + 6 1757 c.1606G>T c.(1606-1608)GGA>TGA p.G536* KIAA0240_uc003osm.1_Nonsense_Mutation_p.G536*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.G536*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.G536*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.G536* NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 536 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) AAGCATGTCAGGACCTAGTCG 0.552 NA 39 30 6.97489e-18 1.06561e-17 0.021022 1 0 RUNX2 860 broad.mit.edu 37 6 45480133 45480133 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr6:45480133G>T uc011dvx.1 + 7 1220 c.1010G>T c.(1009-1011)AGG>ATG p.R337M RUNX2_uc011dvy.1_Missense_Mutation_p.R337M|RUNX2_uc003oxt.2_Missense_Mutation_p.R323M NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 337 Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 GATGTGCCTAGGCGCATTTCA 0.592 NA 46 38 2.77807e-22 4.63012e-22 0.013114 1 0 TAGAP 117289 broad.mit.edu 37 6 159456981 159456981 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr6:159456981G>T uc003qrz.2 - 10 2406 c.2074C>A c.(2074-2076)CTC>ATC p.L692I TAGAP_uc011eft.1_Missense_Mutation_p.L629I|TAGAP_uc003qsa.2_Missense_Mutation_p.L514I NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 692 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CTCAGCGGGAGGAGCTCAGGT 0.602 NA 36 39 1.08052e-11 1.38206e-11 0.019004 1 0 ITGB8 3696 broad.mit.edu 37 7 20418673 20418673 + Splice_Site SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr7:20418673G>T uc003suu.2 + 4 1094 c.389_splice c.e4-1 p.G130_splice ITGB8_uc011jyh.1_Splice_Site|ITGB8_uc003sut.2_Splice_Site_p.G130_splice NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 TATTGAACTAGGAGCCGAAGC 0.328 NA 35 68 1.67305e-13 2.32956e-13 0.025465 1 0 PDE1C 5137 broad.mit.edu 37 7 31877567 31877567 + Silent SNP T T A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr7:31877567T>A uc003tcm.1 - 10 1468 c.999A>T c.(997-999)GTA>GTT p.V333V PDE1C_uc003tcn.1_Silent_p.V333V|PDE1C_uc003tco.1_Silent_p.V393V|PDE1C_uc003tcr.2_Silent_p.V333V|PDE1C_uc003tcs.2_Silent_p.V333V NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 333 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CCATTTCAATTACCAAGGTTC 0.408 NA 100 145 0 0 0.01441 0 0 PHKG1 5260 broad.mit.edu 37 7 56149703 56149703 + Silent SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr7:56149703G>T uc003trz.1 - 8 870 c.675C>A c.(673-675)GCC>GCA p.A225A PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Silent_p.A119A|PHKG1_uc011kdb.1_Silent_p.A257A|PHKG1_uc011kdc.1_Silent_p.A216A|PHKG1_uc011kdd.1_Silent_p.A171A NM_006213 NP_006204 Q16816 PHKG1_HUMAN phosphorylase kinase gamma subunit 1 225 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity large_intestine(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCGGGGAGCCGGCCAGCAGCG 0.647 Melanoma(184;580 2064 5329 24177 35303) NA 12 16 2.80697e-09 3.50872e-09 0.010729 1 0 LOC643955 643955 broad.mit.edu 37 7 62758678 62758678 + Silent SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr7:62758678C>A uc011kdj.1 - 2 200 c.132G>T c.(130-132)GTG>GTT p.V44V NR_003952 Homo sapiens cDNA clone IMAGE:30377995, containing frame-shift errors. 0 TCTCTAACATCACATGTCTAT 0.378 NA 24 142 5.61819e-17 8.46576e-17 0.027356 1 0 PION 54103 broad.mit.edu 37 7 76950085 76950085 + Silent SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr7:76950085C>T uc003ugf.2 - 26 2125 c.2046G>A c.(2044-2046)AGG>AGA p.R682R PION_uc011kgo.1_Silent_p.R3R|PION_uc003ugd.2_Silent_p.R76R NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 682 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 CTTCCAGAATCCTGGTCATGA 0.408 NA 16 32 0 0 0.006122 0 0 ZNF789 285989 broad.mit.edu 37 7 99077308 99077308 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr7:99077308G>T uc003uqq.1 + 3 268 c.49G>T c.(49-51)GCG>TCG p.A17S ZNF789_uc003uqp.2_Missense_Mutation_p.A17S|ZNF789_uc010lfw.1_5'UTR NM_213603 NP_998768 Q5FWF6 ZN789_HUMAN zinc finger protein 789 isoform 1 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGAGGATGTGGCGATGTACTT 0.393 NA 27 44 1.04121e-07 1.24493e-07 0.027356 1 0 VPS13B 157680 broad.mit.edu 37 8 100108540 100108540 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr8:100108540G>T uc003yiv.2 + 4 403 c.292G>T c.(292-294)GAT>TAT p.D98Y VPS13B_uc003yiw.2_Missense_Mutation_p.D98Y|VPS13B_uc003yit.2_Missense_Mutation_p.D98Y|VPS13B_uc003yiu.1_Missense_Mutation_p.D98Y|VPS13B_uc003yis.2_Missense_Mutation_p.D98Y|VPS13B_uc011lgy.1_5'UTR NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 98 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATAAAAATAGGATGACCATGA 0.358 Colon(161;2205 2542 7338 31318) NA 28 50 1.06801e-11 1.38206e-11 0.009535 1 0 RNF19A 25897 broad.mit.edu 37 8 101271232 101271232 + Missense_Mutation SNP C C A TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr8:101271232C>A uc003yjj.1 - 11 2386 c.2069G>T c.(2068-2070)AGA>ATA p.R690I RNF19A_uc003yjk.1_Missense_Mutation_p.R690I NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 690 Interaction with CASR. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CATGTCCTCTCTCGTCTCATT 0.423 NA OREG0018897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 74 95 1.10782e-18 1.71634e-18 0.01441 1 0 RIMS2 9699 broad.mit.edu 37 8 104928660 104928660 + Missense_Mutation SNP G G T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr8:104928660G>T uc003yls.2 + 6 1506 c.1265G>T c.(1264-1266)TGG>TTG p.W422L RIMS2_uc003ylp.2_Missense_Mutation_p.W644L|RIMS2_uc003ylw.2_Missense_Mutation_p.W452L|RIMS2_uc003ylq.2_Missense_Mutation_p.W452L|RIMS2_uc003ylr.2_Missense_Mutation_p.W499L|RIMS2_uc003ylt.2_Missense_Mutation_p.W45L|RIMS2_uc003ylu.1_Missense_Mutation_p.W35L|RIMS2_uc003ylv.1_Missense_Mutation_p.W35L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 722 PDZ. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTATTAGAATGGAATGGAAGA 0.353 NA HNSCC(12;0.0054) 34 45 2.20474e-14 3.19106e-14 0.017118 1 0 PTPRD 5789 broad.mit.edu 37 9 8521415 8521415 + Missense_Mutation SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr9:8521415C>T uc003zkk.2 - 19 1534 c.823G>A c.(823-825)GAT>AAT p.D275N PTPRD_uc003zkp.2_Missense_Mutation_p.D275N|PTPRD_uc003zkq.2_Missense_Mutation_p.D275N|PTPRD_uc003zkr.2_Missense_Mutation_p.D269N|PTPRD_uc003zks.2_Missense_Mutation_p.D265N|PTPRD_uc003zkl.2_Missense_Mutation_p.D275N|PTPRD_uc003zkm.2_Missense_Mutation_p.D262N|PTPRD_uc003zkn.2_Missense_Mutation_p.D275N|PTPRD_uc003zko.2_Missense_Mutation_p.D272N NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 275 Extracellular (Potential).|Ig-like C2-type 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTGTCAGATCTTCTGCCCCC 0.448 NA TSP Lung(15;0.13) 28 17 0 0 0.009535 0 0 PTENP1 11191 broad.mit.edu 37 9 33676271 33676271 + Missense_Mutation SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr9:33676271C>T uc003zth.3 - 1 1148 c.277G>A c.(277-279)GGA>AGA p.G93R NR_023917 SubName: Full=Phosphatase and tensin homolog 2; Flags: Fragment; 0 CGTCCCTTTCCAGCTTTACAG 0.398 NA 56 27 0 0 0.01441 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995628 140995628 + Missense_Mutation SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chrX:140995628C>T uc004fbt.2 + 4 2724 c.2438C>T c.(2437-2439)CCT>CTT p.P813L MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 813 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTCCAGAGTCCTGTGAGCTCC 0.547 NA HNSCC(15;0.026) 104 60 0 0 0.01441 0 0 ATP6AP1 537 broad.mit.edu 37 X 153662571 153662571 + Silent SNP C C T rs138051216 TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chrX:153662571C>T uc004flf.1 + 7 763 c.702C>T c.(700-702)GCC>GCT p.A234A ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Silent_p.A194A|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank NM_001183 NP_001174 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory 234 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(3)|breast(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGATGTAGCCGTGGTGGCCG 0.582 NA 3 43 0 0 0.004672 0 0 SPATA6 54558 broad.mit.edu 37 1 48764544 48764556 + Frame_Shift_Del DEL GCCACGTGGCTGC GCCACGTGGCTGC - TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 GCCACGTGGCTGC GCCACGTGGCTGC - - GCCACGTGGCTGC GCCACGTGGCTGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr1:48764544_48764556delGCCACGTGGCTGC uc001crr.1 - 13 1461_1473 c.1296_1308delGCAGCCACGTGGC c.(1294-1308)CAGCAGCCACGTGGCfs p.Q432fs SPATA6_uc001crs.1_Frame_Shift_Del_p.Q416fs|SPATA6_uc010omv.1_Frame_Shift_Del_p.Q418fs NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 432_436 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 AATGGAAAGTGCCACGTGGCTGCTGACATGAGC 0.357 NA 23 84 --- --- --- --- NA NA NA NA NA MRGPRX1 259249 broad.mit.edu 37 11 18956320 18956320 + Frame_Shift_Del DEL G G - TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr11:18956320delG uc001mpg.2 - 1 230 c.12delC c.(10-12)ACCfs p.T4fs NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 4 Extracellular (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 AGGTTGAGATGGTTGGATCCA 0.423 NA 118 191 --- --- --- --- NA NA NA NA NA TLK1 9874 broad.mit.edu 37 2 171854326 171854337 + Splice_Site DEL GTAAATACCTGT GTAAATACCTGT - TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 GTAAATACCTGT GTAAATACCTGT - - GTAAATACCTGT GTAAATACCTGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr2:171854326_171854337delGTAAATACCTGT uc002ugn.2 - 19 2377 c.1905_splice c.e19-1 p.W635_splice TLK1_uc002ugo.2_Splice_Site_p.W656_splice|TLK1_uc002ugp.2_Splice_Site_p.W587_splice|TLK1_uc002ugq.2_Splice_Site|TLK1_uc010zdn.1_Splice_Site_p.W539_splice NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 CACTCAGGAGGTAAATACCTGTAAGTTTTGTG 0.344 NA 50 121 --- --- --- --- NA NA NA NA NA ZBED4 9889 broad.mit.edu 37 22 50277679 50277679 + Frame_Shift_Del DEL T T - TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr22:50277679delT uc003bix.2 + 2 839 c.369delT c.(367-369)CATfs p.H123fs NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 123 BED-type 1. cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CCTGGAAGCATTTTTTTATCT 0.512 NA 21 15 --- --- --- --- NA NA NA NA NA OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chr7:44684936delT uc003tln.2 + 3 342 c.233delT c.(232-234)ATTfs p.I78fs OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 NA 7 195 --- --- --- --- NA NA NA NA NA CAPN6 827 broad.mit.edu 37 X 110494814 110494824 + Frame_Shift_Del DEL AGGGGTTTCTC AGGGGTTTCTC - TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 AGGGGTTTCTC AGGGGTTTCTC - - AGGGGTTTCTC AGGGGTTTCTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6726c157-f688-491d-8b56-35628645df89 5c91a9d6-124c-4ffe-acf5-ce43a4c2c742 g.chrX:110494814_110494824delAGGGGTTTCTC uc004epc.1 - 6 1014_1024 c.846_856delGAGAAACCCCT c.(844-858)CTGAGAAACCCCTTGfs p.L282fs CAPN6_uc011msu.1_Frame_Shift_Del_p.L27fs NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 282_286 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 TGTCTTCCCAAGGGGTTTCTCAGGCGAACCA 0.488 NA 51 246 --- --- --- --- NA NA NA NA NA