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 FSD1 79187 broad.mit.edu 37 19 4311908 4311908 + Missense_Mutation SNP G G A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr19:4311908G>A ENST00000221856.6 + 7 707 c.560G>A c.(559-561)cGc>cAc p.R187H FSD1_ENST00000597590.1_Missense_Mutation_p.R187H|FSD1_ENST00000598010.1_3'UTR NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 187 Fibronectin type-III. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus p.R187L(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGTGTGGCGCATGCCGGAT 0.642000 4 62 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122825338 122825338 + Missense_Mutation SNP T T C TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr12:122825338T>C ENST00000358808.2 - 10 2534 c.2380A>G c.(2380-2382)Aaa>Gaa p.K794E CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000302528.7_Missense_Mutation_p.K794E|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000540338.1_Missense_Mutation_p.K805E|CLIP1_ENST00000537178.1_Missense_Mutation_p.K759E NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 805 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCTAAATGTTTAATCTGTTTC 0.368000 4 79 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183933121 183933121 + Missense_Mutation SNP T T C TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr1:183933121T>C ENST00000361927.4 - 6 1237 c.866A>G c.(865-867)tAt>tGt p.Y289C COLGALT2_ENST00000546159.1_Missense_Mutation_p.Y289C|COLGALT2_ENST00000367520.3_Missense_Mutation_p.Y26C NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CAGGTAGCCATAGTGCTCTCT 0.517000 9 29 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172928475 172928475 + Missense_Mutation SNP G G C TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr2:172928475G>C ENST00000315796.4 + 3 622 c.235G>C c.(235-237)Gta>Cta p.V79L METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 79 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 GACAGGCATTGTACCAGACTG 0.483000 3 31 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161438 25161438 + RNA SNP T T A rs3869320 by1000genomes TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr13:25161438T>A ENST00000453498.1 + 0 962 CTCTTTATAATAAGATTCATT 0.378000 3 45 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 3 28 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116413346 116413346 + Silent SNP G G A rs139063441 TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr12:116413346G>A ENST00000281928.3 - 24 5768 c.5562C>T c.(5560-5562)tgC>tgT p.C1854C NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1854 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TATTTACAACGCAGGTCTCTA 0.418000 3 44 0 0 1 0 0 SLC7A5 8140 broad.mit.edu 37 16 87866625 87866625 + Missense_Mutation SNP G G A rs144253961 TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr16:87866625G>A ENST00000261622.4 - 10 1540 c.1475C>T c.(1474-1476)aCg>aTg p.T492M SLC7A5_ENST00000565644.1_Missense_Mutation_p.T226M NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 492 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) CAGGACGGTCGTGGAGACTGT 0.647000 4 119 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678300 65678300 + Missense_Mutation SNP C C G TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr15:65678300C>G ENST00000352385.2 - 18 3258 c.3049G>C c.(3049-3051)Gaa>Caa p.E1017Q NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1017 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GACTCCAATTCATGGGCAGCT 0.677000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 30 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50946031 50946031 + Missense_Mutation SNP C C T TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr10:50946031C>T ENST00000374103.4 - 19 2564 c.2479G>A c.(2479-2481)Gtg>Atg p.V827M OGDHL_ENST00000432695.1_Missense_Mutation_p.V618M|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.V770M NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 827 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CGGCGCAGCACGTGGAAGTAG 0.652000 5 177 0 0 1 0 0 C6orf211 79624 broad.mit.edu 37 6 151790032 151790032 + Silent SNP G G A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr6:151790032G>A ENST00000367294.3 + 5 1372 c.1113G>A c.(1111-1113)agG>agA p.R371R C6orf211_ENST00000545879.1_Silent_p.R252R NM_024573.1 NP_078849.1 Q9H993 CF211_HUMAN chromosome 6 open reading frame 211 371 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7) 15 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) TGAATTACAGGAAGTTGACAG 0.413000 18 60 0 0 1 0 0 PREB 10113 broad.mit.edu 37 2 27355237 27355237 + Nonsense_Mutation SNP G G A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr2:27355237G>A ENST00000260643.2 - 6 1040 c.787C>T c.(787-789)Cga>Tga p.R263* PREB_ENST00000406567.3_Intron NM_013388.4 NP_037520.1 Q9HCU5 PREB_HUMAN prolactin regulatory element binding 263 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGAAGAGTCGCAGGCCAGCA 0.627000 6 30 0 0 1 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600626 3600626 + Missense_Mutation SNP G G A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr19:3600626G>A ENST00000375190.4 - 2 400 c.7C>T c.(7-9)Ccc>Tcc p.P3S TBXA2R_ENST00000411851.3_Missense_Mutation_p.P3S|TBXA2R_ENST00000589966.1_Missense_Mutation_p.P3S NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 3 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CTGCCGTTGGGCCACATGGCT 0.657000 3 17 0 0 1 0 0 HAPLN2 60484 broad.mit.edu 37 1 156593628 156593628 + Frame_Shift_Del DEL C C - TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr1:156593628delC ENST00000255039.1 + 4 522 c.115delC c.(115-117)ccfs p.P40fs NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 40 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTACCTCCTGCCCCCCATCCA 0.677 3 6 --- --- --- --- SNX29P2 440352 broad.mit.edu 37 16 29339899 29339899 + RNA DEL C C - TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr16:29339899delC ENST00000398878.3 + 0 887 CTCCACATCGCCAAGGTGCCA 0.537 2 4 --- --- --- --- NECAB3 63941 broad.mit.edu 37 20 32247350 32247350 + Frame_Shift_Del DEL G G - TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr20:32247350delG ENST00000246190.6 - 8 887 c.832delC c.(832-834)ggfs p.R278fs NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.R244fs NM_031232.3 NP_112509.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 278 antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding large_intestine(3)|lung(5)|skin(2) 10 GGTTCCAGCCGGGGGGCCTGT 0.697 2 4 --- --- --- --- NECAB3 63941 broad.mit.edu 37 20 32247387 32247387 + Frame_Shift_Del DEL C C - TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr20:32247387delC ENST00000246190.6 - 8 850 c.795delG c.(793-795)tgfs p.W265fs NECAB3_ENST00000606525.1_Intron|NECAB3_ENST00000375238.4_Intron NM_031232.3 NP_112509.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 265 antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding large_intestine(3)|lung(5)|skin(2) 10 GGCCGGGCCTCCAGCATGGGC 0.687 2 4 --- --- --- ---