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 OBSCN 84033 broad.mit.edu 37 1 228495983 228495983 + Missense_Mutation SNP G G A rs56306215 TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:228495983G>A ENST00000570156.2 + 58 15583 c.15509G>A c.(15508-15510)cGc>cAc p.R5170H OBSCN_ENST00000366709.4_Missense_Mutation_p.R1332H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1847H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4213H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4213H NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4213 Ig-like 49. 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) CGGGATGGCCGCATCCACACC 0.632000 3 30 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62781406 62781406 + RNA SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr17:62781406G>A ENST00000582986.1 - 0 2444 NR_024386.1 TGGTACTTGCGTCAGCGAGCA 0.622000 3 20 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47200709 47200709 + Missense_Mutation SNP C C G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:47200709C>G ENST00000296861.2 - 6 2153 c.1760G>C c.(1759-1761)cGg>cCg p.R587P NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 587 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) GCGTACCTGCCGCAACACTGT 0.532000 50 109 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53747727 53747727 + Silent SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:53747727T>C ENST00000370888.1 + 4 676 c.399T>C c.(397-399)ctT>ctC p.L133L LRRC1_ENST00000370882.1_Silent_p.L133L NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 133 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) TAACATGTCTTTCTGTAAATG 0.333000 14 33 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170858223 170858223 + Missense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:170858223G>A ENST00000436636.2 - 13 1641 c.1297C>T c.(1297-1299)Cgg>Tgg p.R433W TNIK_ENST00000357327.5_Missense_Mutation_p.R433W|TNIK_ENST00000538048.1_Missense_Mutation_p.R433W|TNIK_ENST00000369326.5_Missense_Mutation_p.R433W|TNIK_ENST00000475336.1_Missense_Mutation_p.R433W|TNIK_ENST00000488470.1_Missense_Mutation_p.R433W|TNIK_ENST00000470834.1_Missense_Mutation_p.R433W|TNIK_ENST00000341852.6_Missense_Mutation_p.R433W|TNIK_ENST00000284483.8_Missense_Mutation_p.R433W|TNIK_ENST00000460047.1_Missense_Mutation_p.R433W NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 433 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCCTCCTCCCGGCGCATCTGC 0.652000 16 223 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21370992 21370992 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr13:21370992C>T ENST00000400602.2 - 17 2562 c.2527G>A c.(2527-2529)Gaa>Aaa p.E843K XPO4_ENST00000255305.6_Missense_Mutation_p.E843K NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 843 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TTGTAAACTTCCATCAATCCA 0.393000 12 33 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038309 75038309 + Missense_Mutation SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:75038309C>A ENST00000326665.5 - 14 3303 c.3085G>T c.(3085-3087)Gtg>Ttg p.V1029L C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1029 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCCCTTCCACATCTTCCTTG 0.502000 25 153 3.6726e-16 4.27514e-16 1 1 0 C11orf87 399947 broad.mit.edu 37 11 109294474 109294474 + Missense_Mutation SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr11:109294474G>T ENST00000327419.6 + 2 518 c.115G>T c.(115-117)Ggc>Tgc p.G39C RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 39 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 CCGCGGCCCAGGCGCAGTAGG 0.657000 9 40 2.17888e-05 2.3025e-05 1 1 0 WNT11 7481 broad.mit.edu 37 11 75902893 75902893 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr11:75902893C>T ENST00000322563.3 - 4 729 c.605G>A c.(604-606)cGc>cAc p.R202H RP11-619A14.2_ENST00000527314.1_RNA NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 202 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 CAGAGAGGCGCGCAGAGCCTG 0.672000 3 42 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475639 75475639 + RNA SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:75475639T>C ENST00000459803.1 - 0 890 NR_024241.1 p.H284R(1) CTCTGGGTTGTGGACGGTAAA 0.662000 6 86 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452430 26452430 + Missense_Mutation SNP A A G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:26452430A>G ENST00000244519.2 + 11 1789 c.1546A>G c.(1546-1548)Aaa>Gaa p.K516E BTN3A3_ENST00000339789.4_Missense_Mutation_p.K474E|BTN3A3_ENST00000361232.3_Missense_Mutation_p.K467E NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 516 B30.2/SPRY. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 CCCAATACCAAAAGAAGTAGA 0.517000 15 111 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323121 43323121 + Missense_Mutation SNP G G A rs150884238 TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:43323121G>A ENST00000361428.2 - 4 2028 c.1951C>T c.(1951-1953)Cgc>Tgc p.R651C ZNF318_ENST00000318149.3_Missense_Mutation_p.R651C NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 651 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCTGAGAAGCGGTGGTCAACT 0.537000 10 110 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558470 129558470 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr12:129558470C>T ENST00000422113.2 - 9 3576 c.3250G>A c.(3250-3252)Gac>Aac p.D1084N TMEM132D_ENST00000389441.4_Missense_Mutation_p.D622N NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1084 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCTTTGCAGTCCCCAGGGTCC 0.512000 20 120 0 0 1 0 0 MRPS5 64969 broad.mit.edu 37 2 95774025 95774025 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:95774025C>T ENST00000272418.2 - 5 740 c.532G>A c.(532-534)Gag>Aag p.E178K NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 178 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 CGGTCCCACTCTTCTCTCTGC 0.532000 20 98 0 0 1 0 0 DMPK 1760 broad.mit.edu 37 19 46281006 46281006 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:46281006G>A ENST00000600757.1 - 6 1518 c.831C>T c.(829-831)ttC>ttT p.F277F DMPK_ENST00000447742.2_Silent_p.F267F|DMPK_ENST00000458663.2_Silent_p.F267F|DMPK_ENST00000343373.4_Silent_p.F277F|DMPK_ENST00000291270.4_Silent_p.F267F|DMPK_ENST00000354227.5_Silent_p.F267F Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 277 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) TTTCATAGGCGAATACACCCA 0.632000 26 141 0 0 1 0 0 QPRT 23475 broad.mit.edu 37 16 29706251 29706251 + Missense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr16:29706251G>A ENST00000395384.4 + 2 441 c.280G>A c.(280-282)Gcc>Acc p.A94T QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron|AC009133.19_ENST00000449759.1_Missense_Mutation_p.132_132insL NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 94 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) CCGGGGCCCTGCCCACTGCCT 0.682000 8 72 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32379114 32379114 + Missense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr20:32379114G>A ENST00000375200.1 + 15 2721 c.2356G>A c.(2356-2358)Gag>Aag p.E786K RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.E779K Q9BYN7 ZN341_HUMAN zinc finger protein 341 786 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GCTGGTGCCCGAGGCTGTCCC 0.706000 7 41 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5394709 5394709 + Missense_Mutation SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr18:5394709C>A ENST00000341928.2 - 22 3577 c.3237G>T c.(3235-3237)gaG>gaT p.E1079D EPB41L3_ENST00000342933.3_Missense_Mutation_p.E1079D|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E857D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E857D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E376D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E384D NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1079 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CTGGTGTGATCTCTGTCTCTT 0.527000 17 103 4.75885e-15 5.49665e-15 1 1 0 GLYATL1 92292 broad.mit.edu 37 11 58723306 58723306 + Nonsense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr11:58723306C>T ENST00000300079.5 + 7 858 c.808C>T c.(808-810)Cga>Tga p.R270* RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Nonsense_Mutation_p.R239* NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 239 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) GGAAAAATACCGAAGGACAGG 0.483000 9 116 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25600788 25600788 + Silent SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:25600788G>C ENST00000329474.6 + 33 3734 c.3366G>C c.(3364-3366)cgG>cgC p.R1122R NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1122 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 ATTCTGAACGGATAGAGGAGA 0.537000 14 70 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21991630 21991630 + Nonsense_Mutation SNP A A T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:21991630A>T ENST00000594012.1 - 7 1705 c.1191T>A c.(1189-1191)tgT>tgA p.C397* ZNF43_ENST00000354959.4_Nonsense_Mutation_p.C403*|ZNF43_ENST00000595461.1_Nonsense_Mutation_p.C397*|ZNF43_ENST00000598381.1_Nonsense_Mutation_p.C397* NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AAGCTTTGCCACATTCTTCAC 0.363000 9 70 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47762987 47762987 + Silent SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:47762987C>T ENST00000489301.2 + 4 529 c.444C>T c.(442-444)caC>caT p.H148H OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Silent_p.H148H|OPN5_ENST00000393699.2_Silent_p.H148H Q6U736 OPN5_HUMAN opsin 5 148 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 AAAGAAAGCACGCCTACATCT 0.547000 6 33 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323141 43323141 + Missense_Mutation SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:43323141T>C ENST00000361428.2 - 4 2008 c.1931A>G c.(1930-1932)cAc>cGc p.H644R ZNF318_ENST00000318149.3_Missense_Mutation_p.H644R NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 644 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TGAGGAACAGTGGTCAGCTGA 0.547000 16 109 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45401151 45401151 + Splice_Site SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr15:45401151C>A ENST00000389039.6 - 12 1620 c.e12-1 DUOX2_ENST00000603300.1_Splice_Site Q9NRD8 DUOX2_HUMAN dual oxidase 2 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGCCAGTAATCTGAAGAGGAG 0.542000 10 39 0.000442599 0.000464418 1 1 0 DNAAF1 123872 broad.mit.edu 37 16 84208329 84208329 + Splice_Site SNP G G C rs139519641 byFrequency TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr16:84208329G>C ENST00000378553.5 + 10 1822 c.e10+1 DNAAF1_ENST00000563818.1_Splice_Site NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 GGAAGACCAGGTTAAGGTCAT 0.453000 OREG0023983 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 60 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56385249 56385249 + Silent SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr17:56385249G>C ENST00000355701.3 - 23 5655 c.4785C>G c.(4783-4785)ccC>ccG p.P1595P BZRAP1_ENST00000343736.4_Silent_p.P1595P|BZRAP1_ENST00000268893.6_Silent_p.P1535P NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1595 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTCTCTTCTGGGGGCCCCTCC 0.622000 7 34 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135763005 135763005 + Splice_Site SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:135763005C>T ENST00000375845.3 - 3 265 c.235_splice c.e3+1 p.G79_splice MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Splice_Site_p.G96_splice|MAP3K19_ENST00000392917.3_Splice_Site_p.G79_splice|MAP3K19_ENST00000392918.3_Splice_Site_p.G79_splice|MAP3K19_ENST00000358371.4_Splice_Site_p.E79_splice|MAP3K19_ENST00000375844.3_Splice_Site_p.G79_splice NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 AGCCCAGTACCTTCTGTCCTG 0.438000 9 54 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72967823 72967823 + Silent SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr8:72967823G>T ENST00000262209.4 - 12 1584 c.1377C>A c.(1375-1377)atC>atA p.I459I RP11-383H13.1_ENST00000457356.4_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 459 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GACAGGTATTGATACGCCCAT 0.403000 26 107 3.1745e-13 3.61069e-13 1 1 0 SLC36A2 153201 broad.mit.edu 37 5 150723748 150723748 + Missense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:150723748G>A ENST00000335244.4 - 2 374 c.245C>T c.(244-246)gCg>gTg p.A82V SLC36A2_ENST00000521967.1_Missense_Mutation_p.A82V NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 82 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGGATGCCCGCGTTCTTCAC 0.547000 6 26 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10793234 10793234 + Missense_Mutation SNP C C G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:10793234C>G ENST00000449870.1 + 13 1719 c.1402C>G c.(1402-1404)Ccg>Gcg p.P468A ILF3_ENST00000318511.3_Missense_Mutation_p.P468A|ILF3_ENST00000420083.1_Missense_Mutation_p.P468A|ILF3_ENST00000588657.1_Missense_Mutation_p.P468A|ILF3_ENST00000589998.1_Missense_Mutation_p.P468A|ILF3_ENST00000592763.1_Missense_Mutation_p.P468A|ILF3_ENST00000590261.1_Missense_Mutation_p.P468A|ILF3_ENST00000407004.3_Missense_Mutation_p.P468A|ILF3_ENST00000250241.8_Missense_Mutation_p.P468A NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 468 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CATGGGCTTGCCGACGGGTGC 0.652000 4 53 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 211019032 211019032 + Missense_Mutation SNP T T A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:211019032T>A ENST00000281772.9 - 2 538 c.275A>T c.(274-276)cAc>cTc p.H92L KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Missense_Mutation_p.H92L|KANSL1L_ENST00000452086.1_Missense_Mutation_p.H92L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.H92L NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 92 ATTCTCATTGTGTTTATTTAA 0.308000 11 123 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372559 175372559 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:175372559G>A ENST00000367674.1 - 4 1401 c.693C>T c.(691-693)tcC>tcT p.S231S TNR_ENST00000263525.2_Silent_p.S231S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 231 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACCGGAGTTCGGAACAGTCAT 0.637000 19 125 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35546716 35546716 + Silent SNP A A G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr9:35546716A>G ENST00000455600.1 + 2 767 c.198A>G c.(196-198)ctA>ctG p.L66L RUSC2_ENST00000468041.1_3'UTR NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 66 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ACTCCCTGCTATTCAGCAGCC 0.587000 11 58 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29130641 29130641 + Silent SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr22:29130641G>T ENST00000382580.2 - 2 144 c.69C>A c.(67-69)ggC>ggA p.G23G CHEK2_ENST00000382566.1_Silent_p.G23G|CHEK2_ENST00000405598.1_Silent_p.G23G|CHEK2_ENST00000382565.1_Silent_p.G23G|CHEK2_ENST00000403642.1_Silent_p.G23G|CHEK2_ENST00000328354.6_Silent_p.G23G|CHEK2_ENST00000402731.1_Silent_p.G23G|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000348295.3_Silent_p.G23G|CHEK2_ENST00000404276.1_Silent_p.G23G|CHEK2_ENST00000382578.1_Silent_p.G23G NM_001005735.1 NP_001005735.1 O96017 CHK2_HUMAN checkpoint kinase 2 23 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 GGGTAACGCTGCCATGGGGCT 0.562000 F breast Direct reversal of damage;Other conserved DNA damage response genes 32 79 8.4185e-14 9.6489e-14 1 1 0 ABCC11 85320 broad.mit.edu 37 16 48232154 48232154 + Missense_Mutation SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr16:48232154C>A ENST00000394747.1 - 15 2464 c.2115G>T c.(2113-2115)ttG>ttT p.L705F ABCC11_ENST00000394748.1_Missense_Mutation_p.L705F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L705F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L705F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L705F NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 705 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TCCCATTTTCCAACAAAATGA 0.378000 15 81 3.27435e-08 3.56116e-08 1 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140745430 140745430 + Silent SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:140745430C>T ENST00000518069.1 + 1 1533 c.1533C>T c.(1531-1533)acC>acT p.T511T PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCTGACACCGGTGTCCTGT 0.557000 26 231 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70946775 70946775 + Silent SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr12:70946775C>T ENST00000334414.6 - 21 5213 c.5169G>A c.(5167-5169)caG>caA p.Q1723Q PTPRB_ENST00000261266.5_Silent_p.Q1505Q|PTPRB_ENST00000550857.1_Silent_p.Q1415Q|PTPRB_ENST00000550358.1_Silent_p.Q1635Q|PTPRB_ENST00000538708.1_Silent_p.Q1415Q|PTPRB_ENST00000451516.2_Silent_p.Q1415Q NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1505 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAGGGTGCTGCTGTTCTGGCT 0.453000 32 168 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52881537 52881537 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr12:52881537G>A ENST00000330722.6 - 9 1730 c.1662C>T c.(1660-1662)acC>acT p.T554T NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 554 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TGGAGGAGGAGGTGGTGGTGT 0.597000 17 119 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19414163 19414163 + Nonsense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:19414163G>A ENST00000247001.5 - 6 1104 c.757C>T c.(757-759)Cag>Tag p.Q253* SUGP1_ENST00000585763.1_5'UTR NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 253 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 CTACCTTTCTGAGAGGCTGCC 0.552000 13 68 0 0 1 0 0 LYSMD3 116068 broad.mit.edu 37 5 89815001 89815001 + Missense_Mutation SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:89815001C>A ENST00000315948.6 - 3 700 c.556G>T c.(556-558)Gta>Tta p.V186L LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron NM_198273.1 NP_938014.1 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain containing 3 186 cell wall macromolecule catabolic process integral to membrane breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) AAGGCCGATACTACCTCATTG 0.408000 22 113 7.33628e-21 8.67544e-21 1 1 0 RYR2 6262 broad.mit.edu 37 1 237713905 237713905 + Missense_Mutation SNP A A G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:237713905A>G ENST00000366574.2 + 27 3445 c.3128A>G c.(3127-3129)aAg>aGg p.K1043R RYR2_ENST00000360064.6_Missense_Mutation_p.K1041R|RYR2_ENST00000542537.1_Missense_Mutation_p.K1027R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1043 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACCGAACCAAGAAATCCAAC 0.507000 3 10 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6082016 6082016 + Silent SNP C C T rs150623866 TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr4:6082016C>T ENST00000409021.3 - 7 1574 c.1125G>A c.(1123-1125)gcG>gcA p.A375A JAKMIP1_ENST00000282924.5_Silent_p.A375A|JAKMIP1_ENST00000409831.1_Silent_p.A375A|JAKMIP1_ENST00000409371.3_Silent_p.A210A|JAKMIP1_ENST00000410077.2_Silent_p.A210A|JAKMIP1_ENST00000457227.2_5'UTR NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 375 Mediates interaction with TYK2 and GABBR1. A -> V (in a colorectal cancer sample; somatic mutation). protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCTTCAGAGACGCCTGCGCTG 0.577000 4 35 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76708950 76708950 + Missense_Mutation SNP T T A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:76708950T>A ENST00000264917.5 + 17 1772 c.1727T>A c.(1726-1728)cTg>cAg p.L576Q PDE8B_ENST00000505283.1_Missense_Mutation_p.L41Q|PDE8B_ENST00000340978.3_Missense_Mutation_p.L529Q|PDE8B_ENST00000342343.4_Missense_Mutation_p.L556Q|PDE8B_ENST00000333194.4_Missense_Mutation_p.L521Q|PDE8B_ENST00000346042.3_Missense_Mutation_p.L479Q NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 576 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TTGGTTTATCTGGGCTTAAAG 0.448000 12 135 0 0 1 0 0 ERI1 90459 broad.mit.edu 37 8 8869081 8869081 + Missense_Mutation SNP T T A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr8:8869081T>A ENST00000523898.1 + 4 996 c.317T>A c.(316-318)cTg>cAg p.L106Q ERI1_ENST00000519292.1_Missense_Mutation_p.L106Q|ERI1_ENST00000250263.7_Missense_Mutation_p.L106Q Q8IV48 ERI1_HUMAN exoribonuclease 1 106 SAP. gene silencing by RNA|rRNA 3'-end processing cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus 3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Adenosine monophosphate(DB00131) AAGAAGAGACTGAAAAACTAT 0.348000 10 43 0 0 1 0 0 ZNF154 7710 broad.mit.edu 37 19 58213858 58213858 + Missense_Mutation SNP T T A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:58213858T>A ENST00000512439.2 - 3 655 c.459A>T c.(457-459)agA>agT p.R153S ZNF154_ENST00000426889.1_Missense_Mutation_p.R153S|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron Q13106 ZN154_HUMAN zinc finger protein 154 153 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TAGTGAGGGTTCTCTGCTGCT 0.448000 70 277 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149877520 149877520 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:149877520C>T ENST00000369146.3 - 12 2447 c.1957G>A c.(1957-1959)Gct>Act p.A653T SV2A_ENST00000369145.1_Missense_Mutation_p.A653T NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 653 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CAGAGCAGAGCGATCATGGCC 0.547000 28 125 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61592365 61592365 + Missense_Mutation SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr10:61592365T>C ENST00000263102.6 - 3 731 c.500A>G c.(499-501)cAg>cGg p.Q167R NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 167 5 X 29 AA tandem repeats. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) CTGAAATTCCTGCTCTTGTTC 0.398000 T RET NSCLC 10 71 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37696570 37696570 + Missense_Mutation SNP G G A rs139221615 byFrequency TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr8:37696570G>A ENST00000315215.7 + 12 2068 c.1705G>A c.(1705-1707)Gcc>Acc p.A569T GPR124_ENST00000412232.2_Missense_Mutation_p.A786T Q96PE1 GP124_HUMAN G protein-coupled receptor 124 786 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CTGCCTCTTCGCCACCATCAT 0.677000 11 38 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7862723 7862723 + Missense_Mutation SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:7862723G>T ENST00000283147.6 + 4 1355 c.1196G>T c.(1195-1197)aGt>aTt p.S399I NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 399 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CGGGTCTCCAGTGCTTCAGGT 0.592000 5 50 0.184627 0.185875 1 1 0 MISP 126353 broad.mit.edu 37 19 758045 758045 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:758045C>T ENST00000215582.6 + 2 1202 c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W NM_173481.2 NP_775752.1 mitotic spindle positioning AGACCACCGGCGGGAGGGCCT 0.687000 3 21 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241798408 241798408 + Nonsense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:241798408G>A ENST00000366553.1 - 1 824 c.661C>T c.(661-663)Caa>Taa p.Q221* OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 221 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TTAACTATTTGAGAGTAAGTA 0.328000 40 156 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121396297 121396297 + Splice_Site SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:121396297C>T ENST00000393667.3 - 16 8984 c.8873_splice c.e16-1 p.R2958_splice GOLGB1_ENST00000340645.5_Splice_Site_p.R2953_splice NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2953 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TCTTCTCCATCCTAGAAAAAA 0.413000 15 77 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587832 247587832 + Missense_Mutation SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:247587832G>C ENST00000366497.2 + 4 1867 c.1087G>C c.(1087-1089)Gac>Cac p.D363H NLRP3_ENST00000391828.3_Missense_Mutation_p.D363H|NLRP3_ENST00000366496.2_Missense_Mutation_p.D363H|NLRP3_ENST00000391827.2_Missense_Mutation_p.D363H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.D363H|NLRP3_ENST00000348069.2_Missense_Mutation_p.D363H NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 363 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCACTTGCTGGACCATCCTCG 0.552000 17 96 0 0 1 0 0 RAB7A 7879 broad.mit.edu 37 3 128532230 128532230 + Silent SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:128532230C>A ENST00000265062.3 + 6 835 c.589C>A c.(589-591)Cgg>Agg p.R197R RAB7A_ENST00000482525.1_Silent_p.R150R|RAB7A_ENST00000485280.1_Silent_p.R81R NM_004637.5 NP_004628.4 P51149 RAB7A_HUMAN RAB7A, member RAS oncogene family 197 endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(114;0.231) CAAGAATGACCGGGCCAAGGC 0.507000 36 223 9.65963e-10 1.08217e-09 1 1 0 S1PR3 1903 broad.mit.edu 37 9 91616168 91616168 + Missense_Mutation SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr9:91616168T>C ENST00000375846.3 + 1 4748 c.53T>C c.(52-54)cTg>cCg p.L18P S1PR3_ENST00000358157.2_Missense_Mutation_p.L18P Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 18 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 AACGAGACCCTGCGGGAGCAT 0.637000 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 131 0 0 1 0 0 MLLT4-AS1 653483 broad.mit.edu 37 6 168226593 168226593 + RNA SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:168226593T>C ENST00000359760.5 - 0 796 NR_027906.1 CTGCTGAGCCTAGCACCGCCC 0.716000 9 101 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577111 7577111 + Missense_Mutation SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr17:7577111G>T ENST00000420246.2 - 8 959 c.827C>A c.(826-828)gCc>gAc p.A276D TP53_ENST00000455263.2_Missense_Mutation_p.A276D|TP53_ENST00000445888.2_Missense_Mutation_p.A276D|TP53_ENST00000359597.4_Missense_Mutation_p.A276D|TP53_ENST00000269305.4_Missense_Mutation_p.A276D|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 276 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.A276V(7)|p.A276D(6)|p.A276G(4)|p.?(2)|p.A276fs*69(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*70(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCCAGGACAGGCACAAACACG 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 35 2.23348e-06 2.37707e-06 1 1 0 OR8K5 219453 broad.mit.edu 37 11 55927156 55927156 + Missense_Mutation SNP A A T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr11:55927156A>T ENST00000313447.1 - 1 637 c.638T>A c.(637-639)aTa>aAa p.I213K NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CACTAAGACTATCAGAAAGGA 0.378000 13 105 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36216487 36216487 + Missense_Mutation SNP A A T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:36216487A>T ENST00000222270.7 + 12 3750 c.3750A>T c.(3748-3750)aaA>aaT p.K1250N KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.K1250N NM_014727.1 NP_055542.1 GTCGCTGCAAATTCTGCCACG 0.637000 30 152 0 0 1 0 0 SEC22A 26984 broad.mit.edu 37 3 122944059 122944059 + Missense_Mutation SNP A A C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:122944059A>C ENST00000309934.4 + 3 1352 c.456A>C c.(454-456)caA>caC p.Q152H SEC22A_ENST00000492595.1_Missense_Mutation_p.Q152H|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 152 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) CTCCTTATCAAATTTCCATGT 0.433000 20 153 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62300566 62300566 + Silent SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr11:62300566T>C ENST00000378024.4 - 5 1597 c.1323A>G c.(1321-1323)gtA>gtG p.V441V AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 441 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTGCACCTGATACAGAGAACT 0.537000 14 93 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98851130 98851130 + Silent SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:98851130G>T ENST00000477737.1 + 17 2532 c.2328G>T c.(2326-2328)ctG>ctT p.L776L NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 776 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AAACCAGCCTGCTCAGAAGCC 0.473000 9 54 5.4927e-09 6.10756e-09 1 1 0 LHX3 8022 broad.mit.edu 37 9 139089573 139089573 + Silent SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr9:139089573C>T ENST00000371746.3 - 6 925 c.807G>A c.(805-807)gcG>gcA p.A269A LHX3_ENST00000371748.5_Silent_p.A264A NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 264 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GGCCCATTTCCGCCAAGGAAG 0.677000 4 16 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35422786 35422786 + Missense_Mutation SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:35422786G>C ENST00000439785.1 + 3 493 c.49G>C c.(49-51)Gag>Cag p.E17Q ZNF30_ENST00000601957.1_Missense_Mutation_p.E17Q|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.E17Q|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.E17Q NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) AGTGACATTTGAGGATGTGGC 0.453000 7 22 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42630014 42630014 + Splice_Site SNP A A G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:42630014A>G ENST00000372901.1 + 31 3793 c.3536_splice c.e31+1 p.R1179_splice UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Splice_Site_p.R1179_splice Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1179 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TTGTTGGCAAAGGTAATGTAT 0.333000 41 115 0 0 1 0 0 IRF2BP2 359948 broad.mit.edu 37 1 234743476 234743476 + Missense_Mutation SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:234743476T>C ENST00000366609.3 - 2 1201 c.1171A>G c.(1171-1173)Atg>Gtg p.M391V RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.M375V|IRF2BP2_ENST00000491430.1_5'UTR NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) GTAGGAGTCATGGGGATCTTG 0.612000 9 84 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41176735 41176735 + Missense_Mutation SNP A A T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:41176735A>T ENST00000263413.3 - 8 1274 c.1010T>A c.(1009-1011)gTc>gAc p.V337D C6_ENST00000337836.5_Missense_Mutation_p.V337D|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 337 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTTCAAAAAGACATCAGAAAG 0.383000 18 82 0 0 1 0 0 HCG17 414778 broad.mit.edu 37 6 30227442 30227442 + RNA SNP T T G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:30227442T>G ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA CTGCTGCTCTTGGGGGCCCTG 0.706000 5 41 0 0 1 0 0 B3GNT7 93010 broad.mit.edu 37 2 232262479 232262479 + Missense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:232262479G>A ENST00000287590.5 + 2 310 c.49G>A c.(49-51)Gcc>Acc p.A17T B3GNT7_ENST00000479618.1_3'UTR NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 17 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) CCTGGCCCTGGCCCTGCTCGT 0.632000 11 57 0 0 1 0 0 SLC25A42 284439 broad.mit.edu 37 19 19218754 19218754 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:19218754G>A ENST00000318596.7 + 7 700 c.549G>A c.(547-549)ctG>ctA p.L183L SLC25A42_ENST00000600275.1_3'UTR NM_178526.4 NP_848621.2 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 183 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) AAGAGGGGCTGAAGACTCTCT 0.567000 23 100 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25670474 25670474 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr13:25670474G>A ENST00000281589.3 + 1 175 c.138G>A c.(136-138)ttG>ttA p.L46L NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 46 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GCAGGGACTTGATCACCAGCG 0.567000 9 72 0 0 1 0 0 FBXL17 64839 broad.mit.edu 37 5 107216852 107216852 + Missense_Mutation SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:107216852C>A ENST00000542267.1 - 8 2257 c.1851G>T c.(1849-1851)atG>atT p.M617I FBXL17_ENST00000359660.5_Missense_Mutation_p.M219I|FBXL17_ENST00000496714.1_Missense_Mutation_p.M219I NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 617 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) TCTCTATTGTCATGCTGTATC 0.458000 13 94 1.5842e-08 1.73563e-08 1 1 0 ZIC2 7546 broad.mit.edu 37 13 100637931 100637931 + Missense_Mutation SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr13:100637931G>C ENST00000376335.3 + 3 1887 c.1594G>C c.(1594-1596)Gtg>Ctg p.V532L NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 532 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGAATGGTACGTGTGACGGGT 0.706000 3 15 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105441917 105441917 + Missense_Mutation SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr8:105441917T>C ENST00000351513.2 - 5 938 c.806A>G c.(805-807)tAt>tGt p.Y269C NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 269 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GGGTTCACCATAGACCACCTT 0.423000 16 87 0 0 1 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092581 29092581 + Missense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:29092581G>A ENST00000306108.5 - 1 586 c.563C>T c.(562-564)cCg>cTg p.P188L NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 188 tRNA (adenine-N1-)-methyltransferase activity p.P188Q(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 CTTGCCGAACGGGACTGCCCC 0.473000 13 129 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3211669 3211669 + Missense_Mutation SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr20:3211669T>C ENST00000380059.3 - 10 1308 c.1207A>G c.(1207-1209)Atc>Gtc p.I403V SLC4A11_ENST00000539553.1_Missense_Mutation_p.I360V|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.I376V NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 376 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GTGGTGGTGATGTATTTGCCC 0.577000 13 99 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3599913 3599913 + Missense_Mutation SNP T T A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:3599913T>A ENST00000302006.3 + 2 903 c.851T>A c.(850-852)cTg>cAg p.L284Q CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 284 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCCTTGGGCCTGGCAAAGGAG 0.741000 3 13 0 0 1 0 0 RFT1 91869 broad.mit.edu 37 3 53133435 53133435 + Missense_Mutation SNP A A G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:53133435A>G ENST00000607203.1 - 1 34 c.35T>C c.(34-36)gTt>gCt p.V12A RFT1_ENST00000296292.3_Silent_p.C390C|RFT1_ENST00000394738.3_Silent_p.C351C CAAATGTGAAACACTCTGTCA 0.468000 8 52 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720964 140720964 + Splice_Site SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:140720964T>C ENST00000394576.2 + 1 2424 c.e1+2 PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTCTCAGGTAATCTATCTT 0.393000 9 96 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24535227 24535227 + Missense_Mutation SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:24535227G>C ENST00000264463.4 - 5 1315 c.808C>G c.(808-810)Ccc>Gcc p.P270A NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 270 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TTACTCTGGGGGAAACGTGGT 0.458000 HNSCC(23;0.051) 5 50 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37642616 37642616 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:37642616C>T ENST00000356958.4 - 5 2443 c.2185G>A c.(2185-2187)Gac>Aac p.D729N ZNF585A_ENST00000392157.2_Missense_Mutation_p.D674N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.D674N|ZNF585A_ENST00000355533.2_Missense_Mutation_p.D366N Q6P3V2 Z585A_HUMAN zinc finger protein 585A 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTGGACCTGTCAGTAAAGGCC 0.458000 18 110 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3977871 3977871 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:3977871G>A ENST00000309311.6 - 12 2101 c.2013C>T c.(2011-2013)taC>taT p.Y671Y NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 671 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCGTTGAGGTACTGCACAC 0.627000 15 93 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155233126 155233126 + Missense_Mutation SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:155233126C>A ENST00000368361.4 - 13 1698 c.1383G>T c.(1381-1383)gaG>gaT p.E461D CLK2_ENST00000536801.1_Missense_Mutation_p.E461D|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.E460D|CLK2_ENST00000355560.4_Missense_Mutation_p.E459D P49760 CLK2_HUMAN CDC-like kinase 2 461 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTGGTTCATACTCTAGCATGC 0.567000 Other conserved DNA damage response genes 4 64 0.184627 0.185875 1 1 0 ZNF280B 140883 broad.mit.edu 37 22 22843036 22843036 + Missense_Mutation SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr22:22843036G>C ENST00000360412.2 - 4 1463 c.688C>G c.(688-690)Cag>Gag p.Q230E ZNF280B_ENST00000406426.1_Missense_Mutation_p.Q230E NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GCTCCATTCTGAACATGGCTT 0.368000 56 130 0 0 1 0 0 ID2 3398 broad.mit.edu 37 2 8822561 8822561 + Missense_Mutation SNP A A G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:8822561A>G ENST00000234091.4 + 3 1126 c.266A>G c.(265-267)cAt>cGt p.H89R ID2_ENST00000396290.1_Missense_Mutation_p.H89R|ID2_ENST00000331129.3_Missense_Mutation_p.H89R Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 89 cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTCAGCCTGCATCACCAGAGA 0.577000 7 75 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53994161 53994161 + Missense_Mutation SNP T T A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:53994161T>A ENST00000396403.4 + 4 803 c.675T>A c.(673-675)aaT>aaA p.N225K ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AAGCCTTTAATTATAGCTCAC 0.363000 18 143 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37687410 37687410 + Missense_Mutation SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr8:37687410G>C ENST00000315215.7 + 6 959 c.596G>C c.(595-597)cGc>cCc p.R199P GPR124_ENST00000412232.2_Missense_Mutation_p.R199P Q96PE1 GP124_HUMAN G protein-coupled receptor 124 199 LRRCT. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGCCACCTGCGCTGGCTGCTG 0.667000 13 52 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64418041 64418041 + Silent SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr11:64418041G>C ENST00000265459.6 - 15 3449 c.2988C>G c.(2986-2988)gtC>gtG p.V996V NRXN2_ENST00000377551.1_Silent_p.V996V|NRXN2_ENST00000409571.1_Silent_p.V989V|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Silent_p.V956V NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 996 Laminin G-like 5. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GGTTGTCATTGACTGGTTTGT 0.577000 OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 154 0 0 1 0 0 PPP5C 5536 broad.mit.edu 37 19 46891878 46891878 + Missense_Mutation SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:46891878G>T ENST00000012443.4 + 11 1348 c.1245G>T c.(1243-1245)ttG>ttT p.L415F PPP5C_ENST00000391919.1_Missense_Mutation_p.L287F NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 415 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) AGGCCTTCTTGGAAGAGAACA 0.612000 11 75 1.58986e-06 1.71659e-06 1 1 0 SLC35B4 84912 broad.mit.edu 37 7 133986850 133986850 + Missense_Mutation SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr7:133986850G>C ENST00000378509.4 - 5 656 c.357C>G c.(355-357)ttC>ttG p.F119L NM_032826.4 NP_116215.1 Q969S0 S35B4_HUMAN solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 119 F -> S (in Ref. 6; BAD96594). Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 AGGTATATTTGAATATACTGT 0.353000 13 53 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169279 138169279 + Silent SNP A A G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:138169279A>G ENST00000409968.1 + 14 2974 c.2796A>G c.(2794-2796)ggA>ggG p.G932G THSD7B_ENST00000413152.2_Silent_p.G901G|THSD7B_ENST00000272643.3_Silent_p.G932G|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AACCTTATGGAAACTGGTCAG 0.478000 19 129 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 4 51 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099945 50099945 + Missense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:50099945G>A ENST00000418929.2 + 4 2365 c.2353G>A c.(2353-2355)Gcc>Acc p.A785T NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 480 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCTTCTGGAGGCCGGGGGCCC 0.711000 3 16 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 25 0 0 1 0 0 DARS 1615 broad.mit.edu 37 2 136743008 136743008 + Nonsense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:136743008G>A ENST00000264161.4 - 1 246 c.31C>T c.(31-33)Cag>Tag p.Q11* AC093391.2_ENST00000444406.1_RNA|AC093391.2_ENST00000419808.1_RNA|AC093391.2_ENST00000438432.1_RNA|DARS_ENST00000537273.1_5'UTR NM_001349.2 NP_001340.2 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 11 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GGCTTCTCCTGACTCTTGCGG 0.687000 4 38 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590357 140590357 + Silent SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:140590357C>T ENST00000239450.2 + 1 2067 c.1878C>T c.(1876-1878)acC>acT p.T626T PCDHB12_ENST00000541609.1_Silent_p.T289T NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 626 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGTGCGCACCGCCAGGCTGC 0.701000 16 110 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45462012 45462012 + Missense_Mutation SNP T T G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr5:45462012T>G ENST00000303230.4 - 3 1004 c.947A>C c.(946-948)cAg>cCg p.Q316P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 316 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TACTAAGAACTGAAGACAACC 0.423000 8 41 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40541116 40541116 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chrX:40541116G>A ENST00000324817.1 - 19 2563 c.2445C>T c.(2443-2445)acC>acT p.T815T MED14_ENST00000496531.1_5'UTR NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 815 Interaction with SREBF1. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGCTTCCCTTGGTGGTTCCAT 0.299000 10 30 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185156 130185156 + Missense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr12:130185156G>A ENST00000422113.2 - 2 493 c.167C>T c.(166-168)gCg>gTg p.A56V NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 56 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGAGACGTCCGCGTTGTTGAT 0.557000 10 50 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123542661 123542661 + Missense_Mutation SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:123542661G>T ENST00000334268.4 - 39 2314 c.1997C>A c.(1996-1998)aCt>aAt p.T666N TRDN_ENST00000398178.3_Missense_Mutation_p.T674N Q13061 TRDN_HUMAN triadin 674 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) CACATCTTCAGTTCCTTCTAG 0.269000 4 18 0.150653 0.153749 1 1 0 RNF169 254225 broad.mit.edu 37 11 74546712 74546712 + Nonsense_Mutation SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr11:74546712C>A ENST00000299563.4 + 6 1077 c.1064C>A c.(1063-1065)tCa>tAa p.S355* NM_001098638.1 NP_001092108.1 Q8NCN4 RN169_HUMAN ring finger protein 169 355 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 AGCTCCCTTTCATCCTTGGCT 0.512000 8 100 0.0381472 0.0391996 1 1 0 MAPK8IP3 23162 broad.mit.edu 37 16 1811306 1811306 + Splice_Site SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr16:1811306G>A ENST00000250894.4 + 13 1693 c.1536_splice c.e13+1 p.S512_splice MAPK8IP3_ENST00000356010.5_Splice_Site_p.S506_splice NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 512 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 GTACAGAATCGGTACATCCAC 0.567000 17 85 0 0 1 0 0 HSD17B8 7923 broad.mit.edu 37 6 33173308 33173308 + Missense_Mutation SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:33173308G>C ENST00000374662.3 + 4 499 c.472G>C c.(472-474)Gta>Cta p.V158L HSD17B8_ENST00000469186.1_3'UTR NM_014234.4 NP_055049.1 Q92506 DHB8_HUMAN hydroxysteroid (17-beta) dehydrogenase 8 158 V -> L (in a breast cancer sample; somatic mutation). estrogen biosynthetic process|fatty acid biosynthetic process mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity p.V158L(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 9 NADH(DB00157) CAGTAGCATCGTAGGAAAGGT 0.537000 8 110 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471331 92471331 + Missense_Mutation SNP T T A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr14:92471331T>A ENST00000267622.4 - 11 3362 c.2989A>T c.(2989-2991)Aca>Tca p.T997S NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 997 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TGAACTTTTGTTTCTTGAAAA 0.318000 T PDGFRB AML 5 108 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99762293 99762293 + Splice_Site SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:99762293G>T ENST00000370185.3 + 3 905 c.e3-1 LPPR4_ENST00000457765.1_Splice_Site NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TATCTTTGCAGATTATGGTAG 0.383000 14 192 1.52009e-12 1.71586e-12 1 1 0 COL7A1 1294 broad.mit.edu 37 3 48625824 48625824 + Silent SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:48625824C>T ENST00000328333.8 - 20 2708 c.2601G>A c.(2599-2601)ccG>ccA p.P867P COL7A1_ENST00000454817.1_Silent_p.P867P NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 867 Fibronectin type-III 8.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCAGGGCTGGCGGAGCCTCAG 0.706000 3 14 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5170100 5170100 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr4:5170100G>A ENST00000282908.5 + 3 605 c.183G>A c.(181-183)gaG>gaA p.E61E STK32B_ENST00000510398.1_Silent_p.E14E|STK32B_ENST00000512636.1_Silent_p.E14E NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 61 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 AGTGCATCGAGAGGGATGAGG 0.517000 5 28 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966828 41966828 + Silent SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr12:41966828G>T ENST00000298919.7 + 10 1855 c.1467G>T c.(1465-1467)ccG>ccT p.P489P PDZRN4_ENST00000539469.2_Silent_p.P491P|PDZRN4_ENST00000402685.2_Silent_p.P749P Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 749 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAAGTACTCCGCTCACTGTAG 0.493000 18 106 9.16793e-09 1.01187e-08 1 1 0 MTMR8 55613 broad.mit.edu 37 X 63488489 63488489 + Missense_Mutation SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chrX:63488489G>T ENST00000374852.3 - 14 2110 c.2043C>A c.(2041-2043)gaC>gaA p.D681E MTMR8_ENST00000453546.1_Intron NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 681 nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AGATGCCCATGTCCCCAGAGA 0.527000 6 33 0.0215528 0.0223011 1 1 0 CNTN4 152330 broad.mit.edu 37 3 2944593 2944593 + Missense_Mutation SNP A A G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:2944593A>G ENST00000397461.1 + 11 1495 c.1111A>G c.(1111-1113)Ata>Gta p.I371V CNTN4_ENST00000397459.2_Missense_Mutation_p.I43V|CNTN4_ENST00000427331.1_Missense_Mutation_p.I371V|CNTN4_ENST00000448906.2_Missense_Mutation_p.I43V|CNTN4_ENST00000358480.3_Missense_Mutation_p.I152V|CNTN4_ENST00000418658.1_Missense_Mutation_p.I371V|CNTN4_ENST00000475817.1_3'UTR NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 371 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AACACTCAACATAACAATAGT 0.373000 18 35 0 0 1 0 0 ANG 283 broad.mit.edu 37 14 21162089 21162089 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr14:21162089G>A ENST00000336811.6 + 2 966 c.366G>A c.(364-366)gcG>gcA p.A122A RNASE4_ENST00000555835.1_Intron|AL163636.6_ENST00000553909.1_RNA|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000554073.1_Intron|ANG_ENST00000397990.4_Silent_p.A122A|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000304704.4_Intron NM_001145.4 NP_001136.1 P03950 ANGI_HUMAN angiogenin, ribonuclease, RNase A family, 5 122 actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1) 5 all_cancers(95;0.00387) all_cancers(140;0.196)|all_epithelial(140;0.156) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07) GAGCCACAGCGGGGTTCAGAA 0.517000 26 84 0 0 1 0 0 GAMT 2593 broad.mit.edu 37 19 1399013 1399013 + Missense_Mutation SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:1399013G>A ENST00000447102.3 - 5 565 c.472C>T c.(472-474)Cgc>Tgc p.R158C GAMT_ENST00000252288.2_Missense_Mutation_p.R158C NM_138924.2 NP_620279.1 Q14353 GAMT_HUMAN guanidinoacetate N-methyltransferase 158 creatine biosynthetic process|muscle contraction cytosol guanidinoacetate N-methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1) 6 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Creatine(DB00148) TTCAGCAGGCGAAAGGCGTGG 0.627000 7 50 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53279747 53279747 + Missense_Mutation SNP C C G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr16:53279747C>G ENST00000566029.1 + 15 3648 c.3439C>G c.(3439-3441)Cca>Gca p.P1147A CHD9_ENST00000398510.3_Missense_Mutation_p.P1147A|CHD9_ENST00000447540.1_Missense_Mutation_p.P1147A|CHD9_ENST00000564845.1_Missense_Mutation_p.P1147A Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1147 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TTGTAATCATCCATATCTTAT 0.313000 9 31 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21973240 21973240 + Silent SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr8:21973240G>A ENST00000381418.4 - 19 5023 c.3543C>T c.(3541-3543)gcC>gcT p.A1181A HR_ENST00000312841.8_Silent_p.A1126A NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 1181 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) ATGTCCCCACGGCCACCTTCA 0.567000 10 27 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62121936 62121936 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr20:62121936C>T ENST00000217182.3 - 6 1090 c.925G>A c.(925-927)Ggc>Agc p.G309S EEF1A2_ENST00000298049.7_Missense_Mutation_p.G309S NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 309 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) ACATTGAAGCCGACGTTGTCG 0.602000 19 129 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190250835 190250835 + Missense_Mutation SNP T T A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:190250835T>A ENST00000367462.3 - 3 513 c.282A>T c.(280-282)agA>agT p.R94S RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 94 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CAAGGAAATTTCTTCTCTCAA 0.398000 24 90 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20229100 20229100 + Missense_Mutation SNP C C A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:20229100C>A ENST00000418063.2 + 4 849 c.737C>A c.(736-738)gCa>gAa p.A246E ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 246 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ACCCTTACTGCACATAAGAGA 0.368000 3 19 1 1 1 1 0 FRYL 285527 broad.mit.edu 37 4 48578177 48578177 + Missense_Mutation SNP C C G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr4:48578177C>G ENST00000537810.1 - 24 3195 c.2591G>C c.(2590-2592)tGg>tCg p.W864S FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.W864S|FRYL_ENST00000358350.4_Missense_Mutation_p.W864S|FRYL_ENST00000507711.1_Missense_Mutation_p.W864S O94915 FRYL_HUMAN FRY-like 864 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATAGTTTCTCCACAGGCCAAT 0.438000 19 97 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51101894 51101894 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:51101894C>T ENST00000266037.9 + 6 354 c.331C>T c.(331-333)Ctt>Ttt p.L111F NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 111 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAAAGTAGATCTTTTCTACAA 0.408000 12 93 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25959070 25959070 + Missense_Mutation SNP C C T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr15:25959070C>T ENST00000356865.6 - 10 2206 c.2095G>A c.(2095-2097)Gat>Aat p.D699N NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 699 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCGGCCTCATCCGGGCTCTCC 0.667000 17 55 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106110438 106110438 + RNA SNP G G A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr14:106110438G>A ENST00000390545.2 - 0 297 CAACATTTGCGCTCTGCAGAG 0.602000 43 141 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123517884 123517884 + Silent SNP T T C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chrX:123517884T>C ENST00000422452.2 - 30 6960 c.6897A>G c.(6895-6897)acA>acG p.T2299T TENM1_ENST00000371130.3_Silent_p.T2292T|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AATACAGAGATGTAATCTCCG 0.438000 39 69 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196250051 196250051 + Missense_Mutation SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:196250051G>T ENST00000367433.5 - 24 2878 c.2777C>A c.(2776-2778)tCt>tAt p.S926Y KCNT2_ENST00000367431.4_Missense_Mutation_p.S876Y|KCNT2_ENST00000294725.8_Missense_Mutation_p.S950Y|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 950 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ATCTCCAGTAGAAGAACACAA 0.323000 7 58 2.0095e-06 2.15407e-06 1 1 0 ENPP3 5169 broad.mit.edu 37 6 132059223 132059223 + Missense_Mutation SNP A A T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr6:132059223A>T ENST00000414305.1 + 24 2548 c.2220A>T c.(2218-2220)agA>agT p.R740S ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.R740S O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 740 Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CCACAGAAAGAAATGGAGTAA 0.313000 15 69 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206480461 206480461 + Missense_Mutation SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr2:206480461G>T ENST00000406610.2 + 23 3749 c.3542G>T c.(3541-3543)cGt>cTt p.R1181L PARD3B_ENST00000349953.3_Missense_Mutation_p.R1080L|PARD3B_ENST00000351153.1_Missense_Mutation_p.R1112L|PARD3B_ENST00000358768.2_Missense_Mutation_p.R1119L|PARD3B_ENST00000488622.1_3'UTR NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1181 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCAGGGCCCCGTGGGGGCAGC 0.627000 16 101 7.05477e-17 8.27685e-17 1 1 0 SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 8 208 --- --- --- --- DENND1B 163486 broad.mit.edu 37 1 197552285 197552285 + Frame_Shift_Del DEL C C - TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr1:197552285delC ENST00000235453.4 - 15 1333 c.1056delG c.(1054-1056)aafs p.K352fs DENND1B_ENST00000367396.3_Frame_Shift_Del_p.K382fs|DENND1B_ENST00000400967.2_Frame_Shift_Del_p.K352fs Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B 382 dDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity p.K352K(1) NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 CTCTTACCTGCTTAAAAAGCT 0.403 21 80 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 7 164 --- --- --- --- KCNQ3 3786 broad.mit.edu 37 8 133150232 133150233 + Frame_Shift_Ins INS - - T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr8:133150232_133150233insT ENST00000388996.4 - 12 2019_2020 c.1599_1600insA c.(1597-1602)aatcaafs p.NQ533fs KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 533 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.F534I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCTCCTTGAATTTTTTTTTAT 0.455 9 201 --- --- --- --- LOC403323 403323 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 2 4 --- --- --- --- GNG13 51764 broad.mit.edu 37 16 849043 849046 + Frame_Shift_Del DEL TCTT TCTT - TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr16:849043_849046delTCTT ENST00000248150.4 - 2 133_136 c.32_35delAAGA c.(31-36)agfs p.KE11fs NM_016541.2 NP_057625.1 Q9P2W3 GBG13_HUMAN guanine nucleotide binding protein (G protein), gamma 13 11 cellular response to glucagon stimulus|energy reserve metabolic process signal transducer activity ovary(1) 1 Hepatocellular(780;0.00335) GCTCTCCACCTCTTTCTTCATCTG 0.623 9 43 --- --- --- --- LINC00482 284185 broad.mit.edu 37 17 79279019 79279020 + RNA INS - - C rs3215153 by1000genomes TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr17:79279019_79279020insC ENST00000332012.5 - 0 573_574 NR_038080.1 CCCAGGCACAGCCCCTGAGGCA 0.673 6 10 --- --- --- --- MBOAT7 79143 broad.mit.edu 37 19 54678110 54678111 + Frame_Shift_Ins INS - - A TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr19:54678110_54678111insA ENST00000245615.1 - 8 1526_1527 c.1046_1047insT c.(1045-1047)actfs p.T349fs MBOAT7_ENST00000338624.6_Frame_Shift_Ins_p.T276fs|MBOAT7_ENST00000431666.2_Frame_Shift_Ins_p.T276fs NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 349 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGCTCAGCAGCATGGTCCAGGC 0.688 9 51 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 3 6 --- --- --- --- RP1-90G24.10 0 broad.mit.edu 37 22 32614394 32614401 + RNA DEL AAAAAAAA AAAAAAAA - rs72175023 TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chr22:32614394_32614401delAAAAAAAA ENST00000434942.1 + 0 274 actccctctcaaaaaaaaaaaaaaaaaa 0.385 2 4 --- --- --- --- NONO 4841 broad.mit.edu 37 X 70511784 70511787 + Frame_Shift_Del DEL TTCA TTCA - TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2746527-5f39-47a2-ba05-4ff608616b57 887def3d-1332-4ddb-b05b-a79450f9e4f5 g.chrX:70511784_70511787delTTCA ENST00000535149.1 + 2 686_689 c.43_46delTTCA c.(43-48)ttfs p.FI15fs NONO_ENST00000373856.3_Frame_Shift_Del_p.FI104fs|NONO_ENST00000276079.8_Frame_Shift_Del_p.FI104fs|NONO_ENST00000373841.1_Frame_Shift_Del_p.FI104fs NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 104 DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) AGGCGAAGTCTTCATTCATAAGGA 0.441 T TFE3 papillary renal cancer 27 80 --- --- --- ---