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 GSTA3 2940 broad.mit.edu 37 6 52762673 52762673 + Missense_Mutation SNP A A T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr6:52762673A>T ENST00000211122.3 - 6 561 c.496T>A c.(496-498)Tat>Aat p.Y166N GSTA3_ENST00000370968.1_Missense_Mutation_p.Y116N NM_000847.4 NP_000838.3 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 166 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2) 10 Lung NSC(77;0.0912) Glutathione(DB00143) TCTTCCACATAGTAGAGAAGT 0.512000 5 88 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11213930 11213930 + Missense_Mutation SNP C C T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr6:11213930C>T ENST00000379446.5 - 2 209 c.43G>A c.(43-45)Gtc>Atc p.V15I NEDD9_ENST00000504387.1_Missense_Mutation_p.V15I|NEDD9_ENST00000379433.5_Missense_Mutation_p.V15I|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 15 SH3. actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CACTCTGGGACATTGTCATAT 0.517000 20 40 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67645506 67645506 + Missense_Mutation SNP T T G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr16:67645506T>G ENST00000264010.4 + 3 1215 c.771T>G c.(769-771)atT>atG p.I257M CTCF_ENST00000401394.1_Intron NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 257 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CAACAAAAATTAAAAAGAAAG 0.373000 20 30 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 3 41 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 4 29 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 3 23 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 5 292 0 0 1 0 0 WASH6P 653440 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 3 10 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 5 71 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 62 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 114 0 0 1 0 0 WASH6P 653440 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 3 10 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 22 50 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100411306 100411306 + Missense_Mutation SNP G G A rs60537976 TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr7:100411306G>A ENST00000358173.3 - 10 2192 c.1724C>T c.(1723-1725)tCg>tTg p.S575L EPHB4_ENST00000360620.3_Missense_Mutation_p.S575L NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 575 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity p.S575L(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GTGTTTGTCCGAATATTCTGC 0.493000 5 291 0 0 1 0 0 FUT5 2527 broad.mit.edu 37 19 5867557 5867557 + Silent SNP A A G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr19:5867557A>G ENST00000252675.5 - 5 742 c.180T>C c.(178-180)aaT>aaC p.N60N FUT5_ENST00000588525.1_Silent_p.N60N Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 60 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 AGCGGGACCCATTGGGAGCCC 0.632000 12 24 0 0 1 0 0 RNLS 55328 broad.mit.edu 37 10 90122340 90122340 + Missense_Mutation SNP G G T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr10:90122340G>T ENST00000371947.3 - 5 2008 c.669C>A c.(667-669)ttC>ttA p.F223L RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Missense_Mutation_p.F223L|RNLS_ENST00000437752.1_Missense_Mutation_p.F140L NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 223 extracellular region oxidoreductase activity breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 CAATGGAGACGAAGCGTATGC 0.438000 27 43 2.48779e-11 2.56805e-11 1 1 0 POLR1A 25885 broad.mit.edu 37 2 86276075 86276075 + Missense_Mutation SNP T T C TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr2:86276075T>C ENST00000263857.6 - 18 2944 c.2566A>G c.(2566-2568)Agg>Ggg p.R856G POLR1A_ENST00000409681.1_Missense_Mutation_p.R856G O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 856 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TTAAAATCCCTCTGGTCCTTG 0.473000 22 55 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79860329 79860329 + Missense_Mutation SNP T T C TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr4:79860329T>C ENST00000512733.1 - 1 263 c.50A>G c.(49-51)tAc>tGc p.Y17C PAQR3_ENST00000380645.4_Missense_Mutation_p.Y17C|PAQR3_ENST00000295462.3_Missense_Mutation_p.Y17C NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 17 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 CCAGTACTGGTAGCTGCCCAG 0.672000 25 52 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113442843 113442843 + Silent SNP G G A TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr12:113442843G>A ENST00000392583.2 + 7 1491 c.1284G>A c.(1282-1284)cgG>cgA p.R428R RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.R428R NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 428 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AAAACGAGCGGCACAAAATCG 0.502000 3 37 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19747568 19747568 + Silent SNP G G A TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr19:19747568G>A ENST00000203556.4 - 13 1412 c.1275C>T c.(1273-1275)agC>agT p.S425S GMIP_ENST00000445806.2_Silent_p.S422S|GMIP_ENST00000587238.1_Silent_p.S425S NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 425 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CGCCACCCACGCTGTCCACAT 0.637000 20 35 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73677492 73677492 + Missense_Mutation SNP G G A TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr2:73677492G>A ENST00000264448.6 + 8 3946 c.3835G>A c.(3835-3837)Gct>Act p.A1279T ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1279 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.A1279T(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAGCTGTAACCTC 0.433000 4 106 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec 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 4 42 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15513007 15513007 + Missense_Mutation SNP A A C rs112367037 TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr4:15513007A>C ENST00000424120.1 + 8 932 c.678A>C c.(676-678)gaA>gaC p.E226D CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.E226D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E177D|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E226D Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 226 Poly-Glu. cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 AGGAAGGGGAAGAAGAAGAAC 0.448000 9 8 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38146339 38146339 + Missense_Mutation SNP T T G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chrX:38146339T>G ENST00000378505.2 - 15 2089 c.1913A>C c.(1912-1914)gAa>gCa p.E638A RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 629 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 TGCCTTGCCTTCACTCACCTC 0.483000 48 78 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55206271 55206271 + Missense_Mutation SNP A A G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr20:55206271A>G ENST00000201031.2 + 2 302 c.59A>G c.(58-60)gAc>gGc p.D20G TFAP2C_ENST00000544508.1_5'UTR NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 20 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) GATCGCCACGACGGGAGCAGC 0.662000 12 45 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166172011 166172011 + Missense_Mutation SNP A A G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr2:166172011A>G ENST00000375437.2 + 11 1704 c.1414A>G c.(1414-1416)Aga>Gga p.R472G SCN2A_ENST00000375427.2_Missense_Mutation_p.R472G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R472G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R472G NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 472 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TGCTGAATCAAGAGACTTCAG 0.413000 22 35 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31762953 31762953 + Frame_Shift_Del DEL G G - TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr6:31762953delG ENST00000375663.3 - 2 482 c.42delC c.(40-42)ccfs p.P14fs VARS_ENST00000444930.2_Intron NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 14 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CTCGGAGGCTGGGGAAGGCAT 0.612 2 4 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 5 1 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 2 4 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14063263 14063263 + RNA DEL A A - rs113227652 TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr11:14063263delA ENST00000310358.7 + 0 1017 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GATTGCAGGGAAAAAAAAAAA 0.423 4 9 --- --- --- --- PIGB 9488 broad.mit.edu 37 15 55631503 55631503 + Frame_Shift_Del DEL T T - TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr15:55631503delT ENST00000164305.5 + 7 1124 c.833delT c.(832-834)atfs p.I278fs PIGB_ENST00000539642.1_Frame_Shift_Del_p.I83fs NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 278 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) ATTGATCGTATTTTTTTTGGC 0.284 2 4 --- --- --- ---