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 TMPRSS15 5651 broad.mit.edu 37 21 19732164 19732164 + Missense_Mutation SNP A A G TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr21:19732164A>G ENST00000284885.3 - 8 823 c.790T>C c.(790-792)Tcc>Ccc p.S264P NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 264 CUB 1. 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 AGTTTAATGGAAAGTCCTTGG 0.264000 20 32 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5498930 5498930 + Silent SNP T T C TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr10:5498930T>C ENST00000355029.4 + 12 1906 c.1764T>C c.(1762-1764)ggT>ggC p.G588G NET1_ENST00000542715.1_Silent_p.G407G|NET1_ENST00000380359.3_Silent_p.G534G NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 588 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 CCCTTTCTGGTGGCAAACGGA 0.483000 4 89 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318593 43318593 + Missense_Mutation SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr10:43318593G>A ENST00000374518.4 + 20 3223 c.3160G>A c.(3160-3162)Gcc>Acc p.A1054T NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1054 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTTGGAAGTGGCCAAATTTGA 0.423000 4 194 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212798743 212798743 + Missense_Mutation SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr1:212798743G>A ENST00000294829.3 + 1 955 c.524G>A c.(523-525)cGg>cAg p.R175Q RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 175 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TACCTCTTGCGGCCACCCATG 0.517000 85 128 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 76 0 0 1 0 0 NHLRC1 378884 broad.mit.edu 37 6 18121764 18121764 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr6:18121764C>T ENST00000340650.3 - 1 1087 c.1074G>A c.(1072-1074)atG>atA p.M358I NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 358 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) CATGAGTGACCATGGGCTTCG 0.448000 40 59 0 0 1 0 0 CRYBA1 1411 broad.mit.edu 37 17 27580753 27580753 + Missense_Mutation SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr17:27580753G>A ENST00000225387.3 + 5 454 c.453G>A c.(451-453)atG>atA p.M151I NM_005208.4 NP_005199.2 P05813 CRBA1_HUMAN crystallin, beta A1 151 Beta/gamma crystallin 'Greek key' 3. visual perception soluble fraction structural constituent of eye lens breast(1)|large_intestine(2)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) TGCAAGCCATGGGCTGGTTCA 0.453000 20 41 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44570720 44570720 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr19:44570720C>T ENST00000591793.1 + 7 1152 c.1069C>T c.(1069-1071)Ctt>Ttt p.L357F ZNF223_ENST00000434772.3_Missense_Mutation_p.L247F Q9UK11 ZN223_HUMAN zinc finger protein 223 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) TAGATCAGCACTTACAGTTCA 0.418000 5 146 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201437641 201437641 + Missense_Mutation SNP G G T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr2:201437641G>T ENST00000357799.4 + 7 2670 c.2572G>T c.(2572-2574)Gtc>Ttc p.V858F NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 858 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAATCTACAAGTCACAAATGA 0.299000 46 64 2.00842e-17 2.17237e-17 1 1 0 SSMEM1 136263 broad.mit.edu 37 7 129856182 129856182 + Missense_Mutation SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr7:129856182G>A ENST00000297819.3 + 3 658 c.607G>A c.(607-609)Gcc>Acc p.A203T NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 CCACTGCAAAGCCTTGAGAAC 0.483000 98 122 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30884915 30884915 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr6:30884915C>T ENST00000321897.5 + 8 1419 c.787C>T c.(787-789)Cgg>Tgg p.R263W VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 263 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity p.R263W(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 AGCTTTTGTGCGGCTCTACAA 0.557000 4 168 0 0 1 0 0 APOL3 80833 broad.mit.edu 37 22 36537327 36537327 + Missense_Mutation SNP C C G rs145559179 byFrequency TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr22:36537327C>G ENST00000424878.2 - 4 2678 c.530G>C c.(529-531)cGg>cCg p.R177P APOL3_ENST00000397293.2_Missense_Mutation_p.R306P|APOL3_ENST00000397287.2_Missense_Mutation_p.R177P|APOL3_ENST00000361710.2_Missense_Mutation_p.R177P|APOL3_ENST00000349314.2_Missense_Mutation_p.R377P O95236 APOL3_HUMAN apolipoprotein L, 3 377 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 CTGAGCCTGCCGCCTCAGCTC 0.542000 51 75 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170013708 170013708 + Silent SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr6:170013708G>A ENST00000333572.6 - 22 2787 c.2268C>T c.(2266-2268)ttC>ttT p.F756F WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Silent_p.F756F|WDR27_ENST00000423258.1_Silent_p.F629F A2RRH5 WDR27_HUMAN WD repeat domain 27 726 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CCGTGGTCAGGAAAAGGTTAT 0.498000 17 20 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783902 54783902 + Missense_Mutation SNP T T C TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chrX:54783902T>C ENST00000218436.6 - 8 2634 c.2605A>G c.(2605-2607)Ata>Gta p.I869V NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 869 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GAAAGTGATATGCTTGTGGAA 0.517000 9 33 0 0 1 0 0 SMC1A 8243 broad.mit.edu 37 X 53432432 53432432 + Missense_Mutation SNP C C A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chrX:53432432C>A ENST00000322213.4 - 11 2031 c.1904G>T c.(1903-1905)cGc>cTc p.R635L SMC1A_ENST00000375340.6_Missense_Mutation_p.R401L NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 635 Flexible hinge. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 CACCTTGTGGCGCTGGTGGCC 0.562000 20 8 8.10497e-08 8.59127e-08 1 1 0 IAH1 285148 broad.mit.edu 37 2 9628441 9628441 + Missense_Mutation SNP G G C TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr2:9628441G>C ENST00000470914.1 + 5 707 c.391G>C c.(391-393)Gga>Cga p.G131R IAH1_ENST00000497473.1_Missense_Mutation_p.G244R|IAH1_ENST00000545602.1_Missense_Mutation_p.G131R|IAH1_ENST00000482918.1_Missense_Mutation_p.G131R Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 244 lipid catabolic process hydrolase activity, acting on ester bonds breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AAGTCTGCTGGGAGATGGAGA 0.453000 4 75 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113138965 113138965 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr3:113138965C>T ENST00000393845.2 - 5 535 c.469G>A c.(469-471)Gcc>Acc p.A157T WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.A157T|WDR52-AS1_ENST00000473329.1_RNA NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 157 p.A157T(2) breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 ATGTATATGGCGATACTGTCG 0.428000 13 23 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84733606 84733606 + Silent SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr10:84733606C>T ENST00000372142.2 + 8 958 c.684C>T c.(682-684)gtC>gtT p.V228V NRG3_ENST00000404547.1_Silent_p.V449V|NRG3_ENST00000404576.2_Silent_p.V253V|NRG3_ENST00000372141.2_Silent_p.V449V|NRG3_ENST00000556918.1_Silent_p.V279V|NRG3_ENST00000537893.1_Silent_p.V99V|NRG3_ENST00000545131.1_Silent_p.V99V NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 449 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CAAGTTTTGTCGGCCCCCAGT 0.502000 4 61 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028281 45028281 + RNA SNP G G T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr19:45028281G>T ENST00000454753.1 - 0 488 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) CTGCAATGGAGGGTTTGGCCA 0.522000 3 33 1 1 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20569157 20569157 + Missense_Mutation SNP T T C TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr4:20569157T>C ENST00000504154.1 + 28 3119 c.2867T>C c.(2866-2868)gTc>gCc p.V956A SLIT2_ENST00000273739.5_Missense_Mutation_p.V960A|SLIT2_ENST00000503837.1_Missense_Mutation_p.V952A|SLIT2_ENST00000503823.1_Missense_Mutation_p.V948A NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 956 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GACTGTGATGTCCCAATTCAT 0.443000 30 41 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 4 84 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 30 40 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413213 139413213 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr9:139413213C>T ENST00000277541.6 - 6 1004 c.929G>A c.(928-930)gGg>gAg p.G310E NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 310 EGF-like 8; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTGGCAGGTCCCGCCGTTCTG 0.627000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 55 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 3 68 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127970947 127970947 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr7:127970947C>T ENST00000223073.1 - 10 1168 c.1054G>A c.(1054-1056)Ggg>Agg p.G352R RBM28_ENST00000415472.2_Missense_Mutation_p.G211R NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 352 RRM 3. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding p.G352L(1) breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 AGAAGCTCCCCAAGTTCTTCT 0.428000 26 47 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66206129 66206129 + Missense_Mutation SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr15:66206129G>A ENST00000409699.2 - 20 2828 c.2656C>T c.(2656-2658)Cgt>Tgt p.R886C MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.R886C|MEGF11_ENST00000395625.2_Missense_Mutation_p.R811C|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R811C|MEGF11_ENST00000395614.1_Missense_Mutation_p.R59C A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 886 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TAGGAGACACGGGGAGCCAGG 0.602000 8 21 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36352497 36352497 + Silent SNP A A G TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr17:36352497A>G ENST00000312412.4 - 11 1289 c.1290T>C c.(1288-1290)gaT>gaC p.D430D RP11-1407O15.2_ENST00000544906.1_Silent_p.D275D|TBC1D3_ENST00000537432.1_5'UTR kidney(1)|lung(3) 4 CAAATATCTCATCAACCTCAG 0.393000 7 82 0 0 1 0 0 F12 2161 broad.mit.edu 37 5 176833045 176833045 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr5:176833045C>T ENST00000253496.3 - 3 181 c.133G>A c.(133-135)Gag>Aag p.E45K NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 45 Fibronectin type-II. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGCAGGGCTCCCCGGTGACA 0.597000 Hereditary Angioedema 9 137 0 0 1 0 0 MPZL2 10205 broad.mit.edu 37 11 118133774 118133774 + Silent SNP G G T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr11:118133774G>T ENST00000278937.2 - 2 225 c.97C>A c.(97-99)Cgg>Agg p.R33R MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Silent_p.R33R NM_005797.3 NP_005788.1 O60487 MPZL2_HUMAN myelin protein zero-like 2 33 Ig-like V-type. anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1) 11 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) TCCAGCACCCGGGAGGTATAA 0.463000 14 272 1.35283e-19 1.49375e-19 1 1 0 IMPG1 3617 broad.mit.edu 37 6 76660681 76660681 + Missense_Mutation SNP C C A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr6:76660681C>A ENST00000369950.3 - 13 1611 c.1422G>T c.(1420-1422)atG>atT p.M474I IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 474 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CTGGTACTAGCATTGTCTGGT 0.498000 4 78 1 1 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1268736 1268736 + Silent SNP A A G rs71469870 TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr11:1268736A>G ENST00000447027.1 + 31 10693 c.10635A>G c.(10633-10635)acA>acG p.T3545T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3542T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3542 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACAGCCACAGCCACACCCA 0.687000 5 165 0 0 1 0 0 FAM167B 84734 broad.mit.edu 37 1 32713189 32713189 + Missense_Mutation SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr1:32713189G>A ENST00000373582.3 + 1 356 c.167G>A c.(166-168)cGc>cAc p.R56H NM_032648.2 NP_116037.2 Q9BTA0 F167B_HUMAN family with sequence similarity 167, member B 56 p.R56H(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(2) 5 CAGGCCTGGCGCAGGGCCCAA 0.637000 7 30 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38906799 38906799 + Silent SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr17:38906799C>T ENST00000312150.4 - 6 1068 c.1008G>A c.(1006-1008)gcG>gcA p.A336A NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 336 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) GCGCCAGCTGCGCACAGTAGT 0.562000 115 181 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 5 144 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52474396 52474396 + Silent SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr3:52474396G>A ENST00000231721.2 - 10 1139 c.1140C>T c.(1138-1140)ggC>ggT p.G380G NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 380 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TACTCACCACGCCAGGGCGAG 0.662000 16 14 0 0 1 0 0 EN2 2020 broad.mit.edu 37 7 155255269 155255269 + Missense_Mutation SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr7:155255269G>A ENST00000297375.4 + 2 1138 c.889G>A c.(889-891)Gcc>Acc p.A297T NM_001427.3 NP_001418.2 P19622 HME2_HUMAN engrailed homeobox 2 297 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAACAAGCGCGCCAAGATCAA 0.597000 4 54 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082449 152082449 + Missense_Mutation SNP T T C TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr1:152082449T>C ENST00000368804.1 - 2 3243 c.3244A>G c.(3244-3246)Aag>Gag p.K1082E NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1082 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding p.K1082E(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tcctcttccttccgatattgc 0.607000 5 305 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18768318 18768318 + Missense_Mutation SNP C C T rs150116798 byFrequency TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr2:18768318C>T ENST00000359846.2 - 3 319 c.242G>A c.(241-243)cGt>cAt p.R81H NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000304081.4_Intron|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R81H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R81H NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1 NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) AATATAAATACGTATTGTGTG 0.547000 16 39 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 76 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115520223 115520224 + Frame_Shift_Ins INS - - A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr1:115520223_115520224insA ENST00000369522.3 + 28 2608_2609 c.2368_2369insA c.(2368-2370)aaafs p.K790fs SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K790fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 790 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTAAAGAAAAAAAAGAC 0.252 2 4 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 7 128 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 8 189 --- --- --- --- RP11-13J8.1 0 broad.mit.edu 37 2 201967218 201967218 + RNA DEL G G - TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr2:201967218delG ENST00000448256.1 + 0 628 aaaaaaaaaagaaTTTGTTCT 0.463 2 4 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 36953806 36953816 + Frame_Shift_Del DEL GGGATATGCCC GGGATATGCCC - TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr5:36953806_36953816delGGGATATGCCC ENST00000282516.8 + 2 507_517 c.8_18delGGGATATGCCC c.(7-18)gfs p.GDMP3fs NIPBL_ENST00000448238.2_Frame_Shift_Del_p.GDMP3fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 3 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGGATGAATGGGGATATGCCCCATGTCCCCA 0.398 9 119 --- --- --- --- SOX4 6659 broad.mit.edu 37 6 21594926 21594926 + Frame_Shift_Del DEL C C - TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr6:21594926delC ENST00000244745.1 + 1 955 c.161delC c.(160-162)acfs p.T54fs SOX4_ENST00000543472.1_Frame_Shift_Del_p.T54fs NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 54 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) TGGTGCAAGACCCCGAGTGGG 0.687 8 4 --- --- --- --- CACNA1G 8913 broad.mit.edu 37 17 48653249 48653251 + In_Frame_Del DEL CAC CAC - TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr17:48653249_48653251delCAC ENST00000352832.5 + 8 1858_1860 c.1486_1488delCAC c.(1486-1488)del p.H504del CACNA1G_ENST00000359106.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000416767.4_In_Frame_Del_p.H504del NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 504 Poly-His. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCACCTGGTGcaccaccaccacc 0.700 3 6 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795743 42795744 + Frame_Shift_Ins INS - - G TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f17b0f-b277-44e0-9f28-7accd81f67bd 7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4 g.chr19:42795743_42795744insG ENST00000572681.2 + 12 5527_5528 c.5459_5460insG c.(5458-5460)cggfs p.R1820fs CIC_ENST00000575354.2_Frame_Shift_Ins_p.R911fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.R911fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 911 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.P911P(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCCCCGCCCCCGGGTGGCTCAG 0.649 """Mis, F, S""" oligodendroglioma 128 74 --- --- --- ---