Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RNASE2 6036 broad.mit.edu 37 14 21424254 21424254 + Missense_Mutation SNP C C G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr14:21424254C>G ENST00000304625.2 + 2 414 c.324C>G c.(322-324)atC>atG p.I108M NM_002934.2 NP_002925.1 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 108 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity p.I108I(2) breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TGCCTTTAATCCACTGTAACC 0.418000 24 102 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5086992 5086992 + Missense_Mutation SNP T T C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr17:5086992T>C ENST00000399604.4 - 1 700 c.560A>G c.(559-561)gAa>gGa p.E187G ZNF594_ENST00000575779.1_Missense_Mutation_p.E187G Q96JF6 ZN594_HUMAN zinc finger protein 594 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTTTCCACATTCATGACATAT 0.373000 16 131 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131826374 131826374 + Missense_Mutation SNP G G A rs150152490 TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr8:131826374G>A ENST00000286355.5 - 14 4946 c.2854C>T c.(2854-2856)Cgg>Tgg p.R952W ADCY8_ENST00000377928.3_Missense_Mutation_p.R821W NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 952 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAGATATTCCGGAGCATGTTC 0.552000 HNSCC(32;0.087) 8 117 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61433915 61433915 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr2:61433915C>T ENST00000398571.2 - 71 9102 c.9026G>A c.(9025-9027)cGc>cAc p.R3009H NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3009 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) AAGATAAGGGCGTGTAGACTT 0.393000 7 77 0 0 1 0 0 LAPTM4A 9741 broad.mit.edu 37 2 20237127 20237127 + Missense_Mutation SNP T T C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr2:20237127T>C ENST00000175091.4 - 4 889 c.382A>G c.(382-384)Att>Gtt p.I128V NM_014713.4 NP_055528.1 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 128 transport endomembrane system|Golgi apparatus|integral to membrane endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGAACTAATAGCAACCAGG 0.343000 10 69 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175899049 175899049 + Silent SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:175899049G>A ENST00000359240.3 + 5 3043 c.2373G>A c.(2371-2373)acG>acA p.T791T ADAM29_ENST00000404450.4_Silent_p.T791T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.T791T|ADAM29_ENST00000445694.1_Silent_p.T791T NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 791 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.T791T(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CTCAGTTGACGCCTTCCCAGA 0.572000 17 160 0 0 1 0 0 KCTD20 222658 broad.mit.edu 37 6 36447401 36447401 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr6:36447401G>C ENST00000373731.2 + 5 962 c.571G>C c.(571-573)Gat>Cat p.D191H KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_Missense_Mutation_p.D46H NM_173562.3 NP_775833.2 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerization domain containing 20 191 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity p.D191H(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 CAATTGTCCTGATGGCATCTC 0.358000 10 133 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136170943 136170943 + Missense_Mutation SNP T T C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr3:136170943T>C ENST00000383202.2 - 14 1616 c.1360A>G c.(1360-1362)Agg>Ggg p.R454G STAG1_ENST00000434713.2_Missense_Mutation_p.R228G|STAG1_ENST00000536929.1_Missense_Mutation_p.R38G|STAG1_ENST00000236698.5_Missense_Mutation_p.R454G NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 454 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 CTTCCCCTCCTCTTTGCTAAT 0.373000 16 115 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32891896 32891896 + RNA SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:32891896G>C ENST00000330048.5 - 0 2827 NR_003083.2 TGGTCCCACTGTTGATGACAG 0.627000 9 70 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308964 248308964 + Missense_Mutation SNP G G T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:248308964G>T ENST00000366476.1 + 1 515 c.515G>T c.(514-516)cGg>cTg p.R172L NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 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;0.0388) TGTGGGTCTCGGGAAATAGCC 0.428000 35 492 1.36161e-19 1.50426e-19 1 1 0 CLPS 1208 broad.mit.edu 37 6 35765036 35765036 + Silent SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr6:35765036G>A ENST00000259938.2 - 1 52 c.30C>T c.(28-30)gtC>gtT p.V10V NM_001832.3 NP_001823.1 P04118 COL_HUMAN colipase, pancreatic 10 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 CAGAGAGGGCGACAAGCAGGA 0.607000 15 153 0 0 1 0 0 PPM1F 9647 broad.mit.edu 37 22 22277783 22277783 + Silent SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr22:22277783C>T ENST00000407142.1 - 6 1603 c.543G>A c.(541-543)acG>acA p.T181T PPM1F_ENST00000263212.5_Silent_p.T349T|PPM1F_ENST00000538191.1_Silent_p.T245T P49593 PPM1F_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1F 349 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) CCTCGGAGCCCGTCAGCGCCC 0.642000 8 70 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47746457 47746457 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr21:47746457C>T ENST00000359568.5 + 2 328 c.221C>T c.(220-222)tCa>tTa p.S74L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 74 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AAAAGCACATCATGTGACGAC 0.522000 13 120 0 0 1 0 0 KLF7 8609 broad.mit.edu 37 2 207988567 207988567 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr2:207988567G>C ENST00000309446.6 - 2 1040 c.664C>G c.(664-666)Cag>Gag p.Q222E KLF7_ENST00000412414.2_Missense_Mutation_p.Q194E|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.Q189E NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 222 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) CCGTTAAACTGACAGCGGTGA 0.557000 15 128 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349129 30349129 + Missense_Mutation SNP C C G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr17:30349129C>G ENST00000327564.7 + 1 1106 c.1045C>G c.(1045-1047)Cat>Gat p.H349D LRRC37B_ENST00000584368.1_Missense_Mutation_p.H334D|LRRC37B_ENST00000543378.2_Missense_Mutation_p.H240D|LRRC37B_ENST00000394713.3_Missense_Mutation_p.H322D|LRRC37B_ENST00000341671.7_Missense_Mutation_p.H322D Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 322 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TCCACTGAATCATGAAGTGAC 0.493000 11 183 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6639024 6639024 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:6639024G>A ENST00000333172.6 + 6 2099 c.1906G>A c.(1906-1908)Gcc>Acc p.A636T TAS1R1_ENST00000351136.3_Missense_Mutation_p.A382T|TAS1R1_ENST00000328191.4_3'UTR NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 636 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GCTACGCCAGGCCCTCTTTGC 0.537000 14 131 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79917892 79917892 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr9:79917892G>C ENST00000360280.3 + 34 4134 c.3874G>C c.(3874-3876)Gag>Cag p.E1292Q VPS13A_ENST00000376636.3_Missense_Mutation_p.E1253Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.E1292Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.E1292Q|VPS13A_ENST00000423463.2_3'UTR NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1292 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ATTAAATCTTGAGGTTGTGGT 0.353000 5 138 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18937327 18937327 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:18937327C>T ENST00000446231.2 - 1 449 c.37G>A c.(37-39)Ggc>Agc p.G13S SMG1_ENST00000389467.3_Missense_Mutation_p.G13S|SMG1_ENST00000567737.1_5'UTR Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 13 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ccgccgccgccgctgcTCAGC 0.736000 4 22 0 0 1 0 0 RNASE2 6036 broad.mit.edu 37 14 21424255 21424255 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr14:21424255C>T ENST00000304625.2 + 2 415 c.325C>T c.(325-327)Cac>Tac p.H109Y NM_002934.2 NP_002925.1 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 109 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) GCCTTTAATCCACTGTAACCT 0.418000 25 101 0 0 1 0 0 TNFSF4 7292 broad.mit.edu 37 1 173176258 173176258 + Missense_Mutation SNP C C G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:173176258C>G ENST00000281834.3 - 1 194 c.58G>C c.(58-60)Gag>Cag p.E20Q NM_003326.3 NP_003317.1 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, member 4 20 acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 TTGTTCCTCTCGAATCTTGGC 0.512000 4 85 0 0 1 0 0 ALDH3A2 224 broad.mit.edu 37 17 19578919 19578919 + Missense_Mutation SNP C C A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr17:19578919C>A ENST00000571163.1 + 3 275 c.275C>A c.(274-276)aCt>aAt p.T92N ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000176643.6_3'UTR|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000339618.4_3'UTR|ALDH3A2_ENST00000581518.1_3'UTR P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 0 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) AGTGCCTCTACTGAATTATTC 0.328000 22 118 2.37509e-13 2.59916e-13 1 1 0 GAN 8139 broad.mit.edu 37 16 81396185 81396185 + Missense_Mutation SNP A A G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:81396185A>G ENST00000248272.3 + 6 1217 c.1055A>G c.(1054-1056)aAt>aGt p.N352S NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 352 cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) CCAGATGCAAATACATGGACA 0.403000 16 88 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37627938 37627938 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr17:37627938C>T ENST00000447079.4 + 2 1886 c.1853C>T c.(1852-1854)gCt>gTt p.A618V CDK12_ENST00000430627.2_Missense_Mutation_p.A618V NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 618 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GTAACAGCTGCTATTCCACAC 0.478000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 12 168 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467860 66467860 + Missense_Mutation SNP A A C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:66467860A>C ENST00000273854.3 - 3 1009 c.409T>G c.(409-411)Tgc>Ggc p.C137G EPHA5_ENST00000354839.4_Missense_Mutation_p.C137G|EPHA5_ENST00000432638.2_Missense_Mutation_p.C137G|EPHA5_ENST00000511294.1_Missense_Mutation_p.C137G NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 137 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 AGGCTGTTGCAGTCCCGCAGG 0.428000 TSP Lung(17;0.13) 12 132 0 0 1 0 0 RPA2 6118 broad.mit.edu 37 1 28233480 28233480 + Missense_Mutation SNP T T C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:28233480T>C ENST00000373912.3 - 4 591 c.292A>G c.(292-294)Aca>Gca p.T98A RPA2_ENST00000373909.3_Missense_Mutation_p.T106A|RPA2_ENST00000313433.7_Missense_Mutation_p.T186A NM_002946.3 NP_002937.1 P15927 RFA2_HUMAN replication protein A2, 32kDa 98 Asp/Glu-rich (acidic). cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body protein phosphatase binding|single-stranded DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1) 11 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) GGTGCAGCTGTCATGTCATCT 0.423000 Direct reversal of damage;Nucleotide excision repair (NER) 12 65 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25438318 25438318 + RNA SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr15:25438318G>A ENST00000424208.1 + 0 1177 SNHG14_ENST00000414175.1_RNA NR_003305.1 GGTCCCAATGGTCCCAGGCCA 0.582000 4 55 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240256629 240256629 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:240256629G>A ENST00000319653.9 + 1 1450 c.1220G>A c.(1219-1221)tGt>tAt p.C407Y NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 407 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGCCAGCGCTGTTTCAAGCCC 0.692000 7 58 0 0 1 0 0 APOL4 80832 broad.mit.edu 37 22 36587485 36587485 + Missense_Mutation SNP A A G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr22:36587485A>G ENST00000332987.1 - 7 1104 c.682T>C c.(682-684)Ttt>Ctt p.F228L APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.F231L|APOL4_ENST00000404685.3_3'UTR Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 232 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 TCAAGTGCAAAAGAAAGCACA 0.483000 4 73 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906812 164906812 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr3:164906812G>A ENST00000475390.1 - 2 2250 c.1807C>T c.(1807-1809)Cgc>Tgc p.R603C SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603C O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 603 LRRCT 2. 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 TCAATAGTGCGCACATCACGG 0.552000 HNSCC(40;0.11) 4 83 0 0 1 0 0 KXD1 79036 broad.mit.edu 37 19 18672916 18672916 + Missense_Mutation SNP G G T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr19:18672916G>T ENST00000602094.1 + 2 1510 c.50G>T c.(49-51)aGc>aTc p.S17I KXD1_ENST00000599319.1_Missense_Mutation_p.S17I|KXD1_ENST00000599000.1_Missense_Mutation_p.S17I|KXD1_ENST00000598830.1_Missense_Mutation_p.S17I|KXD1_ENST00000539106.1_Missense_Mutation_p.S17I|KXD1_ENST00000222307.4_Missense_Mutation_p.S17I|KXD1_ENST00000595073.1_Missense_Mutation_p.S17I|KXD1_ENST00000540691.1_Missense_Mutation_p.S17I|KXD1_ENST00000601630.1_Missense_Mutation_p.S17I Q9BQD3 CS050_HUMAN KxDL motif containing 1 17 protein binding CGCATCCTGAGCATGGTGAAC 0.597000 3 30 0.00909568 0.00917477 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103455097 103455097 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:103455097C>T ENST00000358392.2 - 29 2724 c.2407G>A c.(2407-2409)Gac>Aac p.D803N COL11A1_ENST00000512756.1_Missense_Mutation_p.D675N|COL11A1_ENST00000370096.3_Missense_Mutation_p.D791N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D752N NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 791 Triple-helical region. 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 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) AGACCCATGTCACCTTTGAAT 0.289000 4 81 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106431395 106431395 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr8:106431395G>C ENST00000407775.2 + 2 314 c.64G>C c.(64-66)Gat>Cat p.D22H ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 22 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGCCATTGAAGATGAGGAAGA 0.398000 4 83 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14417427 14417427 + RNA SNP A A G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr21:14417427A>G ENST00000507941.1 + 0 95 AAGGTATTCAATTCAGCTGAG 0.343000 3 22 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47527697 47527697 + Silent SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr18:47527697G>A ENST00000285039.7 - 5 839 c.540C>T c.(538-540)ttC>ttT p.F180F NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 180 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CAACGGTGGCGAAATAGCGCA 0.532000 5 145 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561642 32561642 + Silent SNP T T C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr14:32561642T>C ENST00000345122.3 + 2 2082 c.1767T>C c.(1765-1767)gaT>gaC p.D589D ARHGAP5_ENST00000432921.1_Silent_p.D589D|ARHGAP5_ENST00000539826.2_Silent_p.D589D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.D589D NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 589 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TATATCACGATAGTACCAATA 0.378000 11 94 0 0 1 0 0 CLEC4E 26253 broad.mit.edu 37 12 8693383 8693383 + Missense_Mutation SNP G G C rs144112080 byFrequency TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr12:8693383G>C ENST00000299663.3 - 1 176 c.11C>G c.(10-12)tCt>tGt p.S4C CLEC4E_ENST00000446457.2_Missense_Mutation_p.S4C|CLEC4E_ENST00000545274.1_Missense_Mutation_p.S4C NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 4 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) AGATGATTTAGATGAATTCAT 0.368000 13 151 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56514873 56514873 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr12:56514873G>A ENST00000257940.2 + 3 803 c.527G>A c.(526-528)gGc>gAc p.G176D RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 176 Poly-Gly. nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) ACTGGTGGGGGCTCAACAGGC 0.552000 4 101 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42437787 42437787 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr15:42437787C>T ENST00000397272.3 - 16 1863 c.1772G>A c.(1771-1773)aGt>aAt p.S591N PLA2G4F_ENST00000382396.4_Missense_Mutation_p.S589N NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 589 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GATATTCACACTGCCTCTGTA 0.597000 15 200 0 0 1 0 0 GPR22 2845 broad.mit.edu 37 7 107114812 107114812 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr7:107114812C>T ENST00000304402.4 + 3 1650 c.307C>T c.(307-309)Ctt>Ttt p.L103F COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 103 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 TATAGTTATCCTTCTGCTTTC 0.358000 6 158 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93682201 93682201 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:93682201G>C ENST00000343253.7 + 13 2227 c.1725G>C c.(1723-1725)aaG>aaC p.K575N CCDC18_ENST00000557479.1_Missense_Mutation_p.K694N|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.K375N|CCDC18_ENST00000401026.3_Missense_Mutation_p.K576N Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 575 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AGATGACAAAGAAATGTTCTC 0.313000 7 118 0 0 1 0 0 SCN3B 55800 broad.mit.edu 37 11 123516408 123516408 + Missense_Mutation SNP C C T rs147803210 TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr11:123516408C>T ENST00000392770.2 - 2 908 c.106G>A c.(106-108)Gtg>Atg p.V36M SCN3B_ENST00000530277.1_Missense_Mutation_p.V36M|SCN3B_ENST00000299333.3_Missense_Mutation_p.V36M NM_018400.3 NP_060870.1 Q9NY72 SCN3B_HUMAN sodium channel, voltage-gated, type III, beta subunit 36 Ig-like C2-type. axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) TTGCCCTGCACGGCCTCCGTC 0.627000 17 126 0 0 1 0 0 FBXL5 26234 broad.mit.edu 37 4 15627482 15627482 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:15627482G>C ENST00000341285.3 - 9 1367 c.1243C>G c.(1243-1245)Caa>Gaa p.Q415E FBXL5_ENST00000382358.4_Missense_Mutation_p.Q289E|FBXL5_ENST00000412094.2_Missense_Mutation_p.Q398E NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 415 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 AAGCCACTTTGATGAGATGTC 0.423000 12 136 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308207 140308207 + Missense_Mutation SNP G G T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr5:140308207G>T ENST00000253807.2 + 1 1730 c.1730G>T c.(1729-1731)gGa>gTa p.G577V PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G577V|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAGGACTGGACACTTGGTC 0.493000 20 158 4.35082e-09 4.6731e-09 1 1 0 NOM1 64434 broad.mit.edu 37 7 156743149 156743149 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr7:156743149G>A ENST00000275820.3 + 1 733 c.718G>A c.(718-720)Gaa>Aaa p.E240K NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 240 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding p.E240*(1) endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TGAGGAGGAGGAAGATGCCGG 0.552000 6 122 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151124979 151124979 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:151124979C>T ENST00000296550.7 + 5 1748 c.994C>T c.(994-996)Cct>Tct p.P332S DCLK2_ENST00000302176.8_Missense_Mutation_p.P349S|DCLK2_ENST00000506325.1_Missense_Mutation_p.P332S NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 332 Ser-rich. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) ACTTTCTACTCCTAAATCTAC 0.403000 15 135 0 0 1 0 0 LPAR2 9170 broad.mit.edu 37 19 19737971 19737971 + Silent SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr19:19737971G>C ENST00000542587.1 - 5 1025 c.123C>G c.(121-123)acC>acG p.T41T LPAR2_ENST00000407877.3_Silent_p.T41T|LPAR2_ENST00000586703.1_Silent_p.T41T Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 41 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 GCACGCTGACGGTCAGCCCCA 0.592000 5 52 0 0 1 0 0 LCOR 84458 broad.mit.edu 37 10 98711951 98711951 + Silent SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr10:98711951C>T ENST00000540664.1 + 7 873 c.330C>T c.(328-330)aaC>aaT p.N110N LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371097.4_Silent_p.N110N|LCOR_ENST00000356016.3_Silent_p.N110N|LCOR_ENST00000371103.3_Silent_p.N110N NM_001170765.1|NM_001170766.1 NP_001164236.1|NP_001164237.1 ligand dependent nuclear receptor corepressor endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1) 13 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) CTCAAGGGAACGGGTAAGGGA 0.438000 5 76 0 0 1 0 0 RDH10 157506 broad.mit.edu 37 8 74235183 74235183 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr8:74235183G>A ENST00000240285.5 + 6 1616 c.938G>A c.(937-939)cGg>cAg p.R313Q RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.R148Q|RP11-434I12.2_ENST00000514599.1_RNA NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 313 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) TGCATGTATCGGTTCCTAGGA 0.403000 8 106 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67980419 67980419 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:67980419G>A ENST00000422611.2 - 17 2404 c.2365C>T c.(2365-2367)Cgg>Tgg p.R789W SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R787W NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 787 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GAGTTATGCCGCATGCCTCCC 0.652000 4 103 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142078760 142078760 + Silent SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr3:142078760G>A ENST00000264951.4 - 30 3525 c.3408C>T c.(3406-3408)gcC>gcT p.A1136A XRN1_ENST00000392981.2_Silent_p.A1136A NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1136 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 ATAGTACATCGGCTTCTCTAT 0.313000 5 71 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455336 70455336 + Silent SNP A A T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:70455336A>T ENST00000503640.1 - 6 1393 c.1338T>A c.(1336-1338)atT>atA p.I446I UGT2A1_ENST00000512704.1_Silent_p.I402I|UGT2A1_ENST00000514019.1_Silent_p.I612I|UGT2A2_ENST00000457664.2_Silent_p.I455I|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Silent_p.I446I NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 446 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GATCATGGTGAATTCTTGATA 0.393000 32 244 0 0 1 0 0 ALDOA 226 broad.mit.edu 37 16 30080251 30080251 + Silent SNP C C T rs11553120 TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:30080251C>T ENST00000566897.1 + 8 1644 c.492C>T c.(490-492)atC>atT p.I164I ALDOA_ENST00000564546.1_Silent_p.I164I|ALDOA_ENST00000564595.2_Silent_p.I218I|ALDOA_ENST00000338110.5_Silent_p.I164I|ALDOA_ENST00000412304.2_Silent_p.I164I|ALDOA_ENST00000395240.3_Silent_p.I164I|ALDOA_ENST00000569798.1_Silent_p.I164I|ALDOA_ENST00000563060.2_Silent_p.I164I|ALDOA_ENST00000569545.1_Silent_p.I164I|ALDOA_ENST00000395248.1_Silent_p.I218I P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 164 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 CCCTCGCCATCATGGAAAATG 0.562000 OREG0023729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 102 0 0 1 0 0 CENPQ 55166 broad.mit.edu 37 6 49448713 49448713 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr6:49448713G>A ENST00000335783.3 + 6 491 c.397G>A c.(397-399)Gat>Aat p.D133N NM_018132.3 NP_060602.2 Q7L2Z9 CENPQ_HUMAN centromere protein Q 133 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1) 11 Lung NSC(77;0.0128) AAAGATGGAAGATTTAACTAA 0.323000 13 105 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 61915942 61915942 + Missense_Mutation SNP A A G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr14:61915942A>G ENST00000332981.5 + 5 1059 c.674A>G c.(673-675)cAa>cGa p.Q225R PRKCH_ENST00000555082.1_Missense_Mutation_p.Q64R NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 225 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) TGTACTTGCCAAAACAATATT 0.408000 9 91 0 0 1 0 0 G6PD 2539 broad.mit.edu 37 X 153762677 153762677 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chrX:153762677C>T ENST00000393562.2 - 6 993 c.610G>A c.(610-612)Ggg>Agg p.G204R G6PD_ENST00000393564.2_Missense_Mutation_p.G174R|G6PD_ENST00000369620.2_Missense_Mutation_p.G174R NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 174 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 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) AGGTCCCTCCCGAAGGGCTTC 0.617000 14 44 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 137056200 137056200 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr5:137056200G>A ENST00000309755.4 - 2 531 c.88C>T c.(88-90)Cct>Tct p.P30S KLHL3_ENST00000394937.3_Missense_Mutation_p.P30S|KLHL3_ENST00000508657.1_5'UTR NM_017415.2 NP_059111.2 Q9UH77 KLHL3_HUMAN kelch-like family member 3 30 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) ATGTGGGCAGGGTTGACAGTG 0.507000 7 89 0 0 1 0 0 NECAB2 54550 broad.mit.edu 37 16 84027968 84027968 + Missense_Mutation SNP G G T rs146128471 byFrequency TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:84027968G>T ENST00000565691.1 + 5 1131 c.409G>T c.(409-411)Gcc>Tcc p.A137S NECAB2_ENST00000305202.4_Missense_Mutation_p.A220S|NECAB2_ENST00000567703.1_3'UTR Q7Z6G3 NECA2_HUMAN N-terminal EF-hand calcium binding protein 2 220 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 CCCCACTCCCGCCTCTGCCCC 0.612000 15 38 1.33834e-09 1.45091e-09 1 1 0 TTLL3 26140 broad.mit.edu 37 3 9868709 9868709 + Missense_Mutation SNP G G T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr3:9868709G>T ENST00000383827.1 + 3 2548 c.267G>T c.(265-267)gaG>gaT p.E89D TTLL3_ENST00000430793.1_Missense_Mutation_p.E89D|TTLL3_ENST00000427853.3_Missense_Mutation_p.E89D|TTLL3_ENST00000426895.4_Missense_Mutation_p.E444D|TTLL3_ENST00000397241.1_Missense_Mutation_p.E89D|TTLL3_ENST00000547186.1_Missense_Mutation_p.E301D|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.E362D|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000455274.1_Missense_Mutation_p.E89D Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 301 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) ACCTGGAGGAGATGCTGAAGC 0.587000 4 104 0.00909568 0.00917477 1 1 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 71 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19749229 19749229 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr19:19749229C>T ENST00000203556.4 - 8 737 c.600G>A c.(598-600)atG>atA p.M200I GMIP_ENST00000587238.1_Missense_Mutation_p.M200I|GMIP_ENST00000445806.2_Missense_Mutation_p.M200I NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 200 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCTGCTCCTTCATCCACTGCT 0.597000 4 42 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52469713 52469713 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr3:52469713C>T ENST00000231721.2 - 16 2254 c.2255G>A c.(2254-2256)gGc>gAc p.G752D NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 752 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) CCAGCTCTTGCCCCTGGCCTG 0.677000 4 72 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814876 56814876 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr12:56814876G>C ENST00000229201.4 - 24 3062 c.2908C>G c.(2908-2910)Ctg>Gtg p.L970V TIMELESS_ENST00000553532.1_Missense_Mutation_p.L971V|TIMELESS_ENST00000554616.1_Missense_Mutation_p.L468V NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 971 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TCTTCTTCCAGATCTTCCTGG 0.473000 11 108 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150808764 150808764 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:150808764G>A ENST00000358595.5 - 7 892 c.692C>T c.(691-693)gCc>gTc p.A231V ARNT_ENST00000515192.1_Missense_Mutation_p.A222V|ARNT_ENST00000505755.1_Missense_Mutation_p.A216V|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.A231V NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 231 PAS 1. 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) ACCTGTCAGGGCATTTTCTGA 0.418000 T ETV6 AML 4 97 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143799 56143799 + Nonsense_Mutation SNP A A T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr11:56143799A>T ENST00000302270.1 + 1 700 c.700A>T c.(700-702)Aga>Tga p.R234* NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) AGCTGAGGGAAGACAGAAGGC 0.473000 4 121 0 0 1 0 0 QDPR 5860 broad.mit.edu 37 4 17513674 17513674 + Missense_Mutation SNP C C A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:17513674C>A ENST00000281243.5 - 1 183 c.4G>T c.(4-6)Gcg>Tcg p.A2S QDPR_ENST00000508623.1_Missense_Mutation_p.A2S|QDPR_ENST00000513615.1_Missense_Mutation_p.A2S|QDPR_ENST00000428702.2_Missense_Mutation_p.A2S NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 2 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) GCCGCCGCCGCCATCCTGCTC 0.766000 5 26 1.23904e-05 1.31861e-05 1 1 0 ATAT1 79969 broad.mit.edu 37 6 30595812 30595812 + Missense_Mutation SNP G G A rs17852297 TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr6:30595812G>A ENST00000376483.4 + 5 335 c.325G>A c.(325-327)Gat>Aat p.D109N ATAT1_ENST00000329992.8_Missense_Mutation_p.D109N|ATAT1_ENST00000330083.5_Missense_Mutation_p.D97N|ATAT1_ENST00000318999.7_Missense_Mutation_p.D109N|ATAT1_ENST00000376478.2_Missense_Mutation_p.D109N|ATAT1_ENST00000319027.5_Missense_Mutation_p.D109N|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000376485.4_Missense_Mutation_p.D109N Q5SQI0 ATAT_HUMAN alpha tubulin acetyltransferase 1 109 tubulin N-acetyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 9 CTCTTAGGATGATCGTGAGGC 0.468000 7 83 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59728263 59728263 + Silent SNP G G A rs111551773 TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr8:59728263G>A ENST00000361421.1 - 7 1246 c.1026C>T c.(1024-1026)gaC>gaT p.D342D NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 342 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) ATGTCTTCACGTCAACAGGTT 0.493000 10 62 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165551851 165551851 + Missense_Mutation SNP T T A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr2:165551851T>A ENST00000375458.2 - 11 2272 c.2051A>T c.(2050-2052)gAt>gTt p.D684V COBLL1_ENST00000392717.2_Missense_Mutation_p.D760V|COBLL1_ENST00000342193.4_Missense_Mutation_p.D722V|COBLL1_ENST00000194871.6_Missense_Mutation_p.D789V|COBLL1_ENST00000409184.3_Missense_Mutation_p.D722V NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 760 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 AGGCAAAAGATCATCATTACC 0.393000 25 153 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62758432 62758432 + Silent SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:62758432G>A ENST00000512091.1 + 9 2082 c.1335G>A c.(1333-1335)cgG>cgA p.R445R LPHN3_ENST00000507164.1_Silent_p.R513R|LPHN3_ENST00000514996.1_Silent_p.R445R|LPHN3_ENST00000507625.1_Silent_p.R513R|LPHN3_ENST00000506720.1_Silent_p.R513R|LPHN3_ENST00000514591.1_Silent_p.R445R|LPHN3_ENST00000508693.1_Silent_p.R513R|LPHN3_ENST00000545650.1_Silent_p.R445R|LPHN3_ENST00000511324.1_Silent_p.R513R|LPHN3_ENST00000506700.1_Silent_p.R445R|LPHN3_ENST00000504896.1_Silent_p.R445R|LPHN3_ENST00000506746.1_Silent_p.R513R|LPHN3_ENST00000508946.1_Silent_p.R445R|LPHN3_ENST00000509896.1_Silent_p.R513R|LPHN3_ENST00000514157.1_Silent_p.R445R Q9HAR2 LPHN3_HUMAN latrophilin 3 445 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CCACCCTTCGGACCACAACTT 0.483000 5 103 0 0 1 0 0 NFU1 27247 broad.mit.edu 37 2 69627666 69627666 + Missense_Mutation SNP T T C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr2:69627666T>C ENST00000410022.2 - 7 755 c.550A>G c.(550-552)Act>Gct p.T184A NFU1_ENST00000471185.1_Intron|NFU1_ENST00000303698.3_Missense_Mutation_p.T160A|NFU1_ENST00000394305.1_Missense_Mutation_p.T43A|NFU1_ENST00000462320.1_Missense_Mutation_p.T43A NM_001002755.2 NP_001002755.1 Q9UMS0 NFU1_HUMAN NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) 184 NifU. iron-sulfur cluster assembly cytosol|mitochondrion|nucleus 4 iron, 4 sulfur cluster binding|iron ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 7 TCCTGCACAGTTGGCCTGTGA 0.358000 12 191 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36179604 36179604 + Missense_Mutation SNP T T C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:36179604T>C ENST00000303965.4 - 9 2191 c.1702A>G c.(1702-1704)Ata>Gta p.I568V NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 568 PH 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTTAATAGTATGCTGATCCAG 0.378000 11 96 0 0 1 0 0 GIPC3 126326 broad.mit.edu 37 19 3586578 3586578 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr19:3586578C>T ENST00000322315.5 + 2 356 c.311C>T c.(310-312)gCc>gTc p.A104V NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 104 breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) TTCATCTTTGCCCACGTGCGA 0.572000 OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 195 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73752808 73752808 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr17:73752808C>T ENST00000200181.3 + 37 5108 c.4921C>T c.(4921-4923)Ccc>Tcc p.P1641S ITGB4_ENST00000449880.2_Missense_Mutation_p.P1624S|ITGB4_ENST00000339591.3_Missense_Mutation_p.P1624S|ITGB4_ENST00000450894.3_Missense_Mutation_p.P1571S|ITGB4_ENST00000579662.1_Missense_Mutation_p.P1571S|GALK1_ENST00000225614.2_Intron NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1641 Fibronectin type-III 4. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TTTGAGCACTCCCAGTGCCCC 0.667000 4 90 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4163838 4163838 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:4163838C>T ENST00000294016.3 - 2 2144 c.1606G>A c.(1606-1608)Gca>Aca p.A536T NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 536 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 breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 AAGTATTTTGCGGTGGCCTCA 0.507000 5 189 0 0 1 0 0 EIF4A2 1974 broad.mit.edu 37 3 186505353 186505353 + Missense_Mutation SNP C C G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr3:186505353C>G ENST00000323963.5 + 9 1043 c.979C>G c.(979-981)Ctg>Gtg p.L327V EIF4A2_ENST00000356531.5_Missense_Mutation_p.L232V|EIF4A2_ENST00000440191.2_Missense_Mutation_p.L328V Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 327 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) AAGTCGTGTTCTGATCACTAC 0.393000 T BCL6 NHL 24 212 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2924428 2924428 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr18:2924428G>C ENST00000261596.4 - 15 2293 c.2055C>G c.(2053-2055)atC>atG p.I685M NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 685 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) CAGAAATGATGATCTTGTCAT 0.493000 15 125 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45294893 45294893 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:45294893G>A ENST00000447098.2 - 10 1318 c.1307C>T c.(1306-1308)gCg>gTg p.A436V PTCH2_ENST00000372192.3_Missense_Mutation_p.A436V NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 436 SSD. protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity p.A436V(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TGAGGCCACCGCCAGGGCCAC 0.672000 Basal Cell Nevus syndrome 4 52 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1733024 1733024 + Silent SNP T T A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:1733024T>A ENST00000313288.4 + 6 1693 c.1587T>A c.(1585-1587)gcT>gcA p.A529A NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 529 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) GAGACCCCGCTGAGGGTACGT 0.632000 7 90 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35804258 35804258 + Missense_Mutation SNP C C A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr19:35804258C>A ENST00000392213.3 + 11 1941 c.1782C>A c.(1780-1782)gaC>gaA p.D594E MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.D569E NM_002361.3 NP_002352.1 P20916 MAG_HUMAN myelin associated glycoprotein 594 blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CAGAGCTGGACCTGAGCTATT 0.612000 11 70 0.000673444 0.000703779 1 1 0 KALRN 8997 broad.mit.edu 37 3 124053119 124053119 + Missense_Mutation SNP A A G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr3:124053119A>G ENST00000360013.3 + 9 1545 c.1418A>G c.(1417-1419)cAg>cGg p.Q473R KALRN_ENST00000460856.1_Missense_Mutation_p.Q473R|KALRN_ENST00000240874.3_Missense_Mutation_p.Q473R NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 473 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CAGGTCAGCCAGGATGGCAAA 0.562000 21 150 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99627983 99627983 + Missense_Mutation SNP A A T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr7:99627983A>T ENST00000324306.6 + 5 1018 c.784A>T c.(784-786)Agc>Tgc p.S262C ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.S49C|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S226C NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 262 KRAB. viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GAATTATGGGAGCGCATTTCC 0.498000 5 41 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575076 12575076 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr19:12575076G>C ENST00000397732.3 - 4 1831 c.1660C>G c.(1660-1662)Cac>Gac p.H554D CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.H554D NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TCTCCAGTGTGAGTCCTTTCA 0.428000 16 267 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94014601 94014601 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr5:94014601G>C ENST00000265140.5 + 15 2335 c.1916G>C c.(1915-1917)aGa>aCa p.R639T NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 639 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) AAGATGGGTAGAAATGTGATG 0.373000 6 109 0 0 1 0 0 CHD1L 9557 broad.mit.edu 37 1 146736116 146736116 + Silent SNP T T A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:146736116T>A ENST00000369258.4 + 7 632 c.612T>A c.(610-612)acT>acA p.T204T CHD1L_ENST00000431239.1_Silent_p.T204T|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000467213.1_3'UTR NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 204 Helicase ATP-binding. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) TGACCGGAACTCCCATCCAGA 0.428000 5 57 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121746944 121746944 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr2:121746944G>A ENST00000452319.1 + 14 3514 c.3454G>A c.(3454-3456)Ggc>Agc p.G1152S GLI2_ENST00000361492.4_Missense_Mutation_p.G1152S|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1152 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G1152S(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GGTGAGCTCCGGCACCGTAGA 0.632000 7 41 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10158008 10158008 + RNA SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr19:10158008G>A ENST00000495140.1 + 0 1216 p.S57S(1) endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TCTGTGTCTCGGACCCCTTTG 0.542000 16 215 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701757 56701757 + Missense_Mutation SNP T T G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr19:56701757T>G ENST00000586855.2 - 5 1240 c.927A>C c.(925-927)gaA>gaC p.E309D ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E309D A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 309 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 CTTGAGGCTCTTCTTGGGAAA 0.547000 13 189 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72822728 72822728 + Silent SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:72822728C>T ENST00000268489.5 - 10 10119 c.9447G>A c.(9445-9447)ccG>ccA p.P3149P ZFHX3_ENST00000397992.5_Silent_p.P2235P NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3149 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.P3149P(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CCATCAAGTTCGGCTTAGGAG 0.547000 10 173 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27742575 27742575 + Silent SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:27742575G>C ENST00000430629.2 - 5 656 c.441C>G c.(439-441)ctC>ctG p.L147L WASF2_ENST00000536657.1_Silent_p.L147L NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 147 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) TGTAGAATTTGAGTGCCTCTT 0.433000 25 120 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6296871 6296871 + Silent SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:6296871C>T ENST00000226760.1 + 7 986 c.816C>T c.(814-816)gaC>gaT p.D272D WFS1_ENST00000503569.1_Silent_p.D272D NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 272 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) AAGATGATGACGAGCTGGCGG 0.607000 7 109 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807517 20807517 + Missense_Mutation SNP A A C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr19:20807517A>C ENST00000601440.1 - 4 1312 c.1166T>G c.(1165-1167)aTa>aGa p.I389R CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AGTATGAATTATCTTATGCGT 0.383000 5 134 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152083709 152083709 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:152083709C>T ENST00000368804.1 - 2 1983 c.1984G>A c.(1984-1986)Gag>Aag p.E662K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 662 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTCCTCCTCGCGCTTCAGC 0.667000 7 157 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143381872 143381872 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr8:143381872C>T ENST00000519651.1 - 8 711 c.608G>A c.(607-609)cGg>cAg p.R203Q TSNARE1_ENST00000520166.1_Missense_Mutation_p.R422Q|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R422Q|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R421Q Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 422 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGCCTCCTCCCGCAGCCGGAT 0.632000 6 60 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48595377 48595377 + Missense_Mutation SNP C C G TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:48595377C>G ENST00000262384.3 - 2 1413 c.1177G>C c.(1177-1179)Gaa>Caa p.E393Q RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 393 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TCTCTGTCTTCTTGGAATCTT 0.358000 12 101 0 0 1 0 0 QDPR 5860 broad.mit.edu 37 4 17513673 17513673 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:17513673G>A ENST00000281243.5 - 1 184 c.5C>T c.(4-6)gCg>gTg p.A2V QDPR_ENST00000508623.1_Missense_Mutation_p.A2V|QDPR_ENST00000513615.1_Missense_Mutation_p.A2V|QDPR_ENST00000428702.2_Missense_Mutation_p.A2V NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 2 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) CGCCGCCGCCGCCATCCTGCT 0.766000 5 27 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154173460 154173460 + Silent SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr5:154173460G>A ENST00000336314.4 + 6 762 c.738G>A c.(736-738)tcG>tcA p.S246S NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 323 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATGAGACATCGAGTGTGAAGA 0.701000 19 124 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616785 248616785 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:248616785G>A ENST00000342927.3 + 1 709 c.687G>A c.(685-687)atG>atA p.M229I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCACAGGATGAACTCTGCTG 0.547000 7 101 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94839625 94839625 + Missense_Mutation SNP T T A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr5:94839625T>A ENST00000358746.2 - 31 3408 c.3110A>T c.(3109-3111)gAt>gTt p.D1037V NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1037 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 GATAGCTTTATCATATTCACC 0.338000 10 132 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12294403 12294403 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:12294403C>T ENST00000358136.3 + 2 210 c.80C>T c.(79-81)tCa>tTa p.S27L VPS13D_ENST00000356315.4_Missense_Mutation_p.S27L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 27 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GACCAGCTCTCAGTTGCACTT 0.393000 7 107 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109809 21109809 + Silent SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr14:21109809G>A ENST00000320704.3 - 1 41 c.42C>T c.(40-42)ttC>ttT p.F14F NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CTGCCAGGACGAACTCTGTTG 0.453000 13 199 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228479702 228479702 + Missense_Mutation SNP G G C TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr1:228479702G>C ENST00000570156.2 + 44 11804 c.11730G>C c.(11728-11730)tgG>tgC p.W3910C OBSCN_ENST00000359599.6_Missense_Mutation_p.W2328C|OBSCN_ENST00000366709.4_Missense_Mutation_p.W600C|OBSCN_ENST00000422127.1_Missense_Mutation_p.W3481C|OBSCN_ENST00000366707.4_Missense_Mutation_p.W600C|OBSCN_ENST00000284548.11_Missense_Mutation_p.W3481C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2948 Ig-like 40. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGTGGAGTGGAGGAAGGGGC 0.612000 7 114 0 0 1 0 0 LINC01250 101927554 broad.mit.edu 37 2 2910744 2910744 + RNA DEL C C - TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr2:2910744delC ENST00000457478.1 - 0 594 cagccactcacccctacacct 0.692 4 6 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 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) CCATTCACATCAGCAGCAGCAGC 0.340 7 104 --- --- --- --- PHAX 51808 broad.mit.edu 37 5 125939781 125939781 + Frame_Shift_Del DEL A A - TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr5:125939781delA ENST00000297540.4 + 2 1311 c.616delA c.(616-618)ggfs p.R206fs NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export 206 Necessary for interaction with CBP80 (By similarity). ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 TGTCAAAGACAGGCTAGGGAA 0.423 18 79 --- --- --- --- DIAPH1 1729 broad.mit.edu 37 5 140953368 140953368 + Frame_Shift_Del DEL C C - TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr5:140953368delC ENST00000253811.6 - 16 2189 c.2049delG c.(2047-2049)ggfs p.G683fs DIAPH1_ENST00000518047.1_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000520569.1_Frame_Shift_Del_p.G629fs|DIAPH1_ENST00000398562.2_Frame_Shift_Del_p.G662fs|DIAPH1_ENST00000398557.4_Frame_Shift_Del_p.G683fs|DIAPH1_ENST00000398566.3_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000389054.3_Frame_Shift_Del_p.G683fs|DIAPH1_ENST00000389057.5_Frame_Shift_Del_p.G674fs O60610 DIAP1_HUMAN diaphanous-related formin 1 683 FH1. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTAGCACTCCCAGGCAAAG 0.622 2 4 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 7 190 --- --- --- --- TBCEL 219899 broad.mit.edu 37 11 120918326 120918327 + Frame_Shift_Ins INS - - A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr11:120918326_120918327insA ENST00000422003.2 + 3 411_412 c.223_224insA c.(223-225)tgtfs p.C75fs TBCEL_ENST00000529397.1_Frame_Shift_Ins_p.C75fs NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 75 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TTTCTGCGCTCATGTGTCGGAA 0.411 12 175 --- --- --- --- PDPK1 5170 broad.mit.edu 37 16 2611896 2611899 + Frame_Shift_Del DEL CGAC CGAC - TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:2611896_2611899delCGAC ENST00000342085.4 + 4 602_605 c.453_456delCGAC c.(451-456)gafs p.DD151fs PDPK1_ENST00000389224.3_Frame_Shift_Del_p.DD124fs|PDPK1_ENST00000354836.5_Frame_Shift_Del_p.DD151fs|PDPK1_ENST00000268673.7_Intron|RP11-20I23.8_ENST00000569852.1_RNA|PDPK1_ENST00000441549.3_Frame_Shift_Del_p.DD151fs NM_002613.4 NP_002604.1 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 151 Protein kinase. actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 Ovarian(90;0.17) Celecoxib(DB00482) CATTTCAGGACGACGAGAAGCTGT 0.520 3 3 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372178 74372178 + RNA DEL C C - rs113003755 TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr16:74372178delC ENST00000429810.2 - 0 2018 gtctggaactcctgacttcag 0.502 3 6 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 10 61 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11097726 11097726 + RNA DEL G G - TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fe98ad-ea06-4565-bfe3-9f4220835c94 3b6cb478-482c-4391-b65e-3016b41a68a9 g.chr21:11097726delG ENST00000470054.1 - 0 223 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCCAGTTTCAGCGAAGGCACT 0.587 9 38 --- --- --- ---