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 PROKR2 128674 broad.mit.edu 37 20 5283032 5283032 + Missense_Mutation SNP C C T rs146544539 TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr20:5283032C>T ENST00000546004.1 - 3 1055 c.809G>A c.(808-810)cGc>cAc p.R270H PROKR2_ENST00000217270.3_Missense_Mutation_p.R270H Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 270 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CGTCTTCCTGCGGCAGCGCAG 0.597000 HNSCC(71;0.22) 9 57 0 0 0.006214 0 0 EVPL 2125 broad.mit.edu 37 17 74015142 74015142 + Splice_Site SNP C C G TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr17:74015142C>G ENST00000301607.3 - 11 1391 c.e11-1 EVPL_ENST00000586740.1_Splice_Site NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TTTCCTCTGCCTGCCGGGGGC 0.657000 12 23 0 0 0.001855 0 0 HDAC8 55869 broad.mit.edu 37 X 71681859 71681859 + Missense_Mutation SNP G G A TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chrX:71681859G>A ENST00000373573.3 - 9 1341 c.1000C>T c.(1000-1002)Cat>Tat p.H334Y HDAC8_ENST00000429103.2_Missense_Mutation_p.H139Y|HDAC8_ENST00000373589.4_Missense_Mutation_p.H243Y|HDAC8_ENST00000373583.1_Intron NM_018486.2 NP_060956.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 334 chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) CTTACCTCATGATCTGGGATC 0.483000 28 62 0 0 0.005443 0 0 APOBR 55911 broad.mit.edu 37 16 28507219 28507219 + Missense_Mutation SNP C C T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr16:28507219C>T ENST00000564831.1 + 2 890 c.857C>T c.(856-858)aCc>aTc p.T286I APOBR_ENST00000328423.5_Missense_Mutation_p.T286I|APOBR_ENST00000431282.1_Missense_Mutation_p.T286I NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 286 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GCCAGGACAACCCCAGGTAGG 0.632000 11 16 0 0 0.008291 0 0 RP11-566K19.6 0 broad.mit.edu 37 15 23108883 23108883 + RNA SNP T T C rs3178813 by1000genomes TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr15:23108883T>C ENST00000557922.1 - 0 246 NR_040057.1 TTCGACACTATCATCTGCAGA 0.378000 3 55 0 0 0.004672 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190779 39190779 + Missense_Mutation SNP T T C TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr17:39190779T>C ENST00000344363.5 - 1 328 c.295A>G c.(295-297)Agt>Ggt p.S99G NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 109 extracellular region|keratin filament structural constituent of epidermis p.S99G(2) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACAGCTCCACTGCTGCCCTCC 0.652000 3 47 0 0 0.009096 0 0 FAM86HP 0 broad.mit.edu 37 3 129821650 129821650 + RNA SNP G G A rs56088005 by1000genomes TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr3:129821650G>A ENST00000500074.2 - 0 495 GGTTGCGGACGGTAAAGGCCA 0.667000 5 151 0 0 0.000602 0 0 OR13F1 138805 broad.mit.edu 37 9 107267381 107267381 + Missense_Mutation SNP G G A rs142994537 TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr9:107267381G>A ENST00000334726.2 + 1 927 c.838G>A c.(838-840)Gga>Aga p.G280R NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGTGTATGCCGGACAAACCCC 0.428000 10 83 0 0 0.010729 0 0 LONP2 83752 broad.mit.edu 37 16 48311247 48311247 + Splice_Site SNP A A T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr16:48311247A>T ENST00000285737.4 + 8 1334 c.e8-1 LONP2_ENST00000535754.1_Splice_Site NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TGCTTTCTCTAGGCGCACCTA 0.463000 4 85 0 0 0.009096 0 0 NCBP1 4686 broad.mit.edu 37 9 100409798 100409798 + Silent SNP C C T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr9:100409798C>T ENST00000375147.3 + 7 892 c.636C>T c.(634-636)ccC>ccT p.P212P NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 212 MIF4G. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) CTCATGTACCCATGTTACAGG 0.368000 3 77 0 0 0.000602 0 0 TSPAN32 10077 broad.mit.edu 37 11 2334910 2334910 + Silent SNP C C T rs147630481 by1000genomes TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr11:2334910C>T ENST00000182290.4 + 5 518 c.381C>T c.(379-381)taC>taT p.Y127Y TSPAN32_ENST00000381121.3_Silent_p.Y127Y|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Silent_p.Y116Y NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 127 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) TGGACACCTACGACCTGGTAT 0.672000 8 14 0 0 0.010729 0 0 IARS 3376 broad.mit.edu 37 9 95027811 95027811 + Missense_Mutation SNP C C T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr9:95027811C>T ENST00000375643.3 - 15 1722 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K IARS_ENST00000447699.2_Missense_Mutation_p.E376K|IARS_ENST00000443024.2_Missense_Mutation_p.E486K|IARS_ENST00000375629.3_5'UTR NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 486 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TCTTCAAGTTCCGCCACTGAC 0.413000 7 213 0 0 0.004482 0 0 COL4A1 1282 broad.mit.edu 37 13 110844602 110844602 + Missense_Mutation SNP C C A TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr13:110844602C>A ENST00000375820.4 - 24 1616 c.1495G>T c.(1495-1497)Gac>Tac p.D499Y COL4A1_ENST00000543140.1_Missense_Mutation_p.D499Y NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 499 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AAACCTCTGTCGCCCTTGGCC 0.498000 9 74 0.000274275 0.00053549 0.004482 1 0 GLRX3 10539 broad.mit.edu 37 10 131943568 131943568 + Silent SNP A A G TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr10:131943568A>G ENST00000368644.1 + 2 208 c.186A>G c.(184-186)caA>caG p.Q62Q GLRX3_ENST00000331244.5_Silent_p.Q62Q NM_001199868.1 NP_001186797.1 O76003 GLRX3_HUMAN glutaredoxin 3 62 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) AACTCCCTCAAGTTTCATTTG 0.428000 3 57 0 0 0.004672 0 0 SPATA8 145946 broad.mit.edu 37 15 97328316 97328316 + Missense_Mutation SNP G G A TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr15:97328316G>A ENST00000328504.3 + 3 554 c.287G>A c.(286-288)aGt>aAt p.S96N SPATA8_ENST00000558553.1_Silent_p.K55K NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 96 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) AACAGGAGAAGTGTCCTGTTT 0.473000 56 68 0 0 0.014410 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 5 88 0 0 0.001984 0 0 ZAN 7455 broad.mit.edu 37 7 100352918 100352918 + RNA SNP G G T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr7:100352918G>T ENST00000542585.1 + 0 3342 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCCAGGCCTAGCTGTGGGCCC 0.562000 73 186 1.38806e-43 2.77612e-43 0.014410 1 0 CA13 377677 broad.mit.edu 37 8 86193478 86193478 + Missense_Mutation SNP T T G TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr8:86193478T>G ENST00000321764.3 + 7 991 c.689T>G c.(688-690)cTc>cGc p.L230R NM_198584.2 NP_940986.1 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 230 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding large_intestine(1)|lung(6) 7 TTTCGCAGTCTCCTGTGCACA 0.458000 30 244 0 0 0.003271 0 0 AHNAK 79026 broad.mit.edu 37 11 62284755 62284755 + Missense_Mutation SNP T T C TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr11:62284755T>C ENST00000378024.4 - 5 17408 c.17134A>G c.(17134-17136)Atc>Gtc p.I5712V AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5712 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) GGCATTTTGATCTTGGACTTT 0.483000 3 149 0 0 0.004672 0 0 NAALADL2 254827 broad.mit.edu 37 3 175455163 175455163 + Silent SNP T T C TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr3:175455163T>C ENST00000454872.1 + 12 2094 c.1966T>C c.(1966-1968)Tta>Cta p.L656L NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 656 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TGATATAGCTTTAGAAGTTCA 0.313000 3 64 0 0 0.009096 0 0 BAI3 577 broad.mit.edu 37 6 69758224 69758224 + Missense_Mutation SNP A A T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr6:69758224A>T ENST00000370598.1 + 14 3076 c.2255A>T c.(2254-2256)aAa>aTa p.K752I NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 752 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GTGTCATCAAAAGGTAAATAT 0.328000 5 47 0 0 0.001168 0 0 SLC4A7 9497 broad.mit.edu 37 3 27444776 27444776 + Silent SNP C C G TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr3:27444776C>G ENST00000295736.5 - 15 2218 c.2148G>C c.(2146-2148)gtG>gtC p.V716V SLC4A7_ENST00000446700.1_Silent_p.V708V|SLC4A7_ENST00000440156.1_Silent_p.V712V|SLC4A7_ENST00000437179.1_Silent_p.V597V|SLC4A7_ENST00000445684.1_Silent_p.V712V|SLC4A7_ENST00000388777.4_Silent_p.V266V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Silent_p.V592V|SLC4A7_ENST00000454389.1_Silent_p.V725V|SLC4A7_ENST00000455077.1_Silent_p.V597V|SLC4A7_ENST00000435667.2_Silent_p.V601V NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 716 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TAATATAACACACAAGGCTGC 0.378000 6 145 0 0 0.001168 0 0 SLC8A3 6547 broad.mit.edu 37 14 70522512 70522512 + Splice_Site SNP C C T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr14:70522512C>T ENST00000381269.2 - 4 2660 c.e4+1 SLC8A3_ENST00000357887.3_Splice_Site|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000216568.7_Intron NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ACACCTCTTACCTGGAGATAA 0.403000 15 16 0 0 0.004990 0 0 SVEP1 79987 broad.mit.edu 37 9 113208159 113208159 + Missense_Mutation SNP T T C TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr9:113208159T>C ENST00000401783.2 - 26 4757 c.4421A>G c.(4420-4422)gAt>gGt p.D1474G SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1474G|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1451G NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1474 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCTGCCGTTATCAACTGCATA 0.453000 6 141 0 0 0.001168 0 0 FAM110B 90362 broad.mit.edu 37 8 59058923 59058923 + Missense_Mutation SNP C C T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr8:59058923C>T ENST00000361488.3 + 5 1014 c.134C>T c.(133-135)cCc>cTc p.P45L FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 45 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GAGCCCAACCCCAAGAGGCTC 0.667000 9 42 0 0 0.010729 0 0 STK31 56164 broad.mit.edu 37 7 23871854 23871854 + Missense_Mutation SNP G G C TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr7:23871854G>C ENST00000354639.3 + 24 3324 c.2860G>C c.(2860-2862)Gag>Cag p.E954Q STK31_ENST00000428484.1_Missense_Mutation_p.E954Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E977Q|STK31_ENST00000433467.2_Missense_Mutation_p.E954Q NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 977 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GATGCCAAAGGAGCAATCAGT 0.358000 3 95 0 0 0.009096 0 0 SERPINA1 5265 broad.mit.edu 37 14 94847272 94847272 + Nonsense_Mutation SNP G G A TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr14:94847272G>A ENST00000448921.1 - 5 1425 c.853C>T c.(853-855)Cag>Tag p.Q285* SERPINA1_ENST00000437397.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000402629.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393087.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000355814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000440909.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000404814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393088.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000449399.3_Nonsense_Mutation_p.Q285* NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 285 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TCCAGGTGCTGTAGTTTCCCC 0.507000 12 135 0 0 0.001855 0 0 GABRA6 2559 broad.mit.edu 37 5 161128522 161128522 + Missense_Mutation SNP C C T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr5:161128522C>T ENST00000523217.1 + 9 1317 c.1075C>T c.(1075-1077)Cat>Tat p.H359Y GABRA6_ENST00000274545.5_Missense_Mutation_p.H369Y NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 369 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.H369Y(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCCAAATATCATCTGAAGAA 0.378000 TCGA Ovarian(5;0.080) 8 155 0 0 0.004482 0 0 TP53 7157 broad.mit.edu 37 17 7572986 7572986 + Nonsense_Mutation SNP G G A TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr17:7572986G>A ENST00000269305.4 - 11 1312 c.1123C>T c.(1123-1125)Cag>Tag p.Q375* TP53_ENST00000445888.2_Nonsense_Mutation_p.Q375*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 375 Basic (repression of DNA-binding).|Interaction with CARM1. 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.?(1)|p.Q375*(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) GAGGTAGACTGACCCTTTTTG 0.527000 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) 6 142 0 0 0.001984 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39777757 39777757 + Missense_Mutation SNP G G A TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr14:39777757G>A ENST00000553728.1 + 17 2977 c.2764G>A c.(2764-2766)Gaa>Aaa p.E922K CTAGE5_ENST00000557038.1_Missense_Mutation_p.E307K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E358K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E387K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E375K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E358K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E312K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E392K|CTAGE5_ENST00000280083.3_Missense_Mutation_p.E387K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E387K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E358K AGTAATGACTGAATTATATCA 0.284000 5 100 0 0 0.001168 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 32 87 0 0 0.004289 0 0 LONP2 83752 broad.mit.edu 37 16 48381506 48381506 + Missense_Mutation SNP G G A TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr16:48381506G>A ENST00000285737.4 + 13 2120 c.2027G>A c.(2026-2028)cGa>cAa p.R676Q LONP2_ENST00000535754.1_Missense_Mutation_p.R632Q NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 676 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GAGGCGAGTCGAATGGATGGC 0.557000 4 100 0 0 0.000602 0 0 JMJD1C 221037 broad.mit.edu 37 10 64973913 64973913 + Nonsense_Mutation SNP T T A TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr10:64973913T>A ENST00000399262.2 - 8 2232 c.2014A>T c.(2014-2016)Aga>Tga p.R672* JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.R490*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.R453*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.R453* NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 672 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTGCCAATCTTCTTTCACCA 0.388000 21 95 0 0 0.002780 0 0 C19orf57 79173 broad.mit.edu 37 19 14015679 14015679 + Silent SNP G G A TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr19:14015679G>A ENST00000454313.1 - 2 85 c.27C>T c.(25-27)acC>acT p.T9T C19orf57_ENST00000346736.2_Silent_p.T9T|C19orf57_ENST00000591586.1_Silent_p.T9T|C19orf57_ENST00000586783.1_Silent_p.T9T Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 9 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) ACGTACCTGAGGTCCGCAGCT 0.413000 4 129 0 0 0.001168 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19770245 19770245 + Missense_Mutation SNP A A T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr21:19770245A>T ENST00000284885.3 - 3 328 c.295T>A c.(295-297)Tca>Aca p.S99T NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 99 SEA. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AGATTGCTTGATAGAAAGATC 0.244000 3 9 0 0 0.004672 0 0 CDH26 60437 broad.mit.edu 37 20 58558037 58558037 + Silent SNP C C T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr20:58558037C>T ENST00000348616.4 + 5 753 c.453C>T c.(451-453)ttC>ttT p.F151F CDH26_ENST00000244047.5_Silent_p.F151F NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 151 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CCTTGATTTTCAACATTAGGA 0.413000 9 199 0 0 0.006214 0 0 SIKE1 80143 broad.mit.edu 37 1 115321810 115321811 + Frame_Shift_Ins INS - - T TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr1:115321810_115321811insT ENST00000369528.5 - 3 449_450 c.372_373insA c.(370-375)aacggtfs p.NG124fs SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000060969.5_Frame_Shift_Ins_p.NG120fs NM_001102396.1|NM_025073.2 NP_001095866.1|NP_079349.2 Q9BRV8 SIKE1_HUMAN suppressor of IKBKE 1 120 cytosol protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 GCATCCACCGCTTTTTTAGCAA 0.396 30 139 --- --- --- --- ALS2 57679 broad.mit.edu 37 2 202603435 202603435 + Frame_Shift_Del DEL A A - TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr2:202603435delA ENST00000264276.6 - 12 2747 c.2375delT c.(2374-2376)tcfs p.F792fs ALS2_ENST00000457679.2_Frame_Shift_Del_p.F104fs NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 792 DH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CATAACCAGGAAATTTGTAAT 0.383 9 53 --- --- --- --- MRPL38 64978 broad.mit.edu 37 17 73895623 73895623 + Frame_Shift_Del DEL G G - TCGA-EL-A3D6-01A-12D-A202-08 TCGA-EL-A3D6-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 354c1945-1933-45ff-a68b-a3c3ca0558d2 2131b331-eeb2-4b90-aae6-cd22b0b97b78 g.chr17:73895623delG ENST00000309352.3 - 7 1380 c.843delC c.(841-843)ttfs p.F281fs RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Frame_Shift_Del_p.F97fs NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 281 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) CGTCCTCAGAGAAGTCAATCG 0.617 10 35 --- --- --- ---