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 TLN2 83660 broad.mit.edu 37 15 63008557 63008557 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr15:63008557G>A ENST00000561311.1 + 22 2892 c.2662G>A c.(2662-2664)Gac>Aac p.D888N TLN2_ENST00000306829.6_Missense_Mutation_p.D888N Q9Y4G6 TLN2_HUMAN talin 2 888 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGAGAATGAGGACCAGCAGCA 0.483000 3 77 0 0 1 0 0 AP000346.2 0 broad.mit.edu 37 22 23981105 23981105 + RNA SNP A A C TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr22:23981105A>C ENST00000390329.2 - 0 23 AP000347.4_ENST00000430707.2_RNA GAACAGAATGACCGACGGGGT 0.562000 3 40 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 6 0 0 1 0 0 YAE1D1 57002 broad.mit.edu 37 7 39610133 39610133 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr7:39610133G>A ENST00000432096.2 + 2 171 c.158G>A c.(157-159)gGc>gAc p.G53D YAE1D1_ENST00000223273.2_Missense_Mutation_p.G53D|YAE1D1_ENST00000448268.1_Missense_Mutation_p.G53D|YAE1D1_ENST00000469737.1_3'UTR Q9NRH1 CG036_HUMAN Yae1 domain containing 1 53 ATAGATGCTGGCAAAGCAGTT 0.368000 3 82 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117245849 117245849 + Nonsense_Mutation SNP C C T TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr6:117245849C>T ENST00000332958.2 + 15 1589 c.1573C>T c.(1573-1575)Cga>Tga p.R525* NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 525 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.R525*(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TCATTTGATTCGAATGCTTCT 0.388000 20 93 0 0 1 0 0 SUN2 25777 broad.mit.edu 37 22 39134911 39134911 + Nonsense_Mutation SNP C C T TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr22:39134911C>T ENST00000405510.1 - 16 2104 c.1746G>A c.(1744-1746)tgG>tgA p.W582* SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571* NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 582 SUN. centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 GGGAGTGGTACCACAGGGGGA 0.637000 10 56 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 62 0 0 1 0 0 VILL 50853 broad.mit.edu 37 3 38047326 38047326 + Missense_Mutation SNP C C T TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr3:38047326C>T ENST00000283713.6 + 17 2260 c.1994C>T c.(1993-1995)gCg>gTg p.A665V VILL_ENST00000465644.1_Missense_Mutation_p.A383V|VILL_ENST00000383759.2_Missense_Mutation_p.A665V O15195 VILL_HUMAN villin-like 665 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGGAAGGAGGCGGTGGCCTGG 0.657000 18 157 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 21 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390463 45390463 + Silent SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr6:45390463G>A ENST00000371438.1 + 2 550 c.192G>A c.(190-192)caG>caA p.Q64Q RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 64 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcagcaacagcagc 0.736000 3 54 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129370592 129370592 + Missense_Mutation SNP T T A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr3:129370592T>A ENST00000393238.3 - 6 2034 c.1694A>T c.(1693-1695)cAg>cTg p.Q565L TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 565 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CTGCTGCTGCTGCAGCTCCAT 0.572000 4 159 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198665988 198665988 + Missense_Mutation SNP C C T TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr1:198665988C>T ENST00000367376.2 + 4 413 c.242C>T c.(241-243)aCc>aTc p.T81I PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.T81I|PTPRC_ENST00000442510.2_Missense_Mutation_p.T83I NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 81 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AATACTTCCACCCAAGTATCC 0.413000 16 145 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31961946 31961946 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr20:31961946G>A ENST00000357886.4 - 10 1375 c.1222C>T c.(1222-1224)Cgt>Tgt p.R408C CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 408 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 TCCAACACACGGCTGCTTCCA 0.502000 61 372 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139912649 139912649 + Silent SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr9:139912649G>A ENST00000265662.5 - 14 2121 c.1974C>T c.(1972-1974)taC>taT p.Y658Y ABCA2_ENST00000371605.3_Silent_p.Y657Y|ABCA2_ENST00000341511.6_Silent_p.Y658Y Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 657 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AGACGAAGCCGTAGAGGAAGT 0.642000 3 49 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 8 83 0 0 1 0 0 DNASE1L1 1774 broad.mit.edu 37 X 153631329 153631329 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chrX:153631329G>A ENST00000369809.1 - 9 1357 c.728C>T c.(727-729)gCg>gTg p.A243V DNASE1L1_ENST00000393638.1_Missense_Mutation_p.A243V NM_001009932.1 NP_001009932.1 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 243 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters lung(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAAGGCAGCCGCAGTGTGCAG 0.657000 3 77 0 0 1 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998648 8998648 + Missense_Mutation SNP A A C TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr8:8998648A>C ENST00000310455.3 - 2 664 c.514T>G c.(514-516)Tac>Gac p.Y172D PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 172 CBM21. glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) AAGTCTGTGTAGCTCTTCCAG 0.493000 20 156 0 0 1 0 0 STAC2 342667 broad.mit.edu 37 17 37369385 37369385 + Splice_Site SNP C C A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr17:37369385C>A ENST00000333461.5 - 10 1363 c.993_splice c.e10-1 p.G332_splice NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 332 SH3. intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CCGATCTTGCCCTGGGGATGA 0.612000 5 167 0.184627 0.190058 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 80 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 59 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36641948 36641948 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr8:36641948G>A ENST00000399881.3 + 1 57 c.20G>A c.(19-21)cGa>cAa p.R7Q NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 7 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACTAAGCTACGAAATGAAACT 0.453000 6 43 0 0 1 0 0 SERHL2 253190 broad.mit.edu 37 22 42967138 42967138 + Missense_Mutation SNP C C A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr22:42967138C>A ENST00000327678.5 + 10 762 c.660C>A c.(658-660)agC>agA p.S220R SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R NM_014509.3 NP_055324.2 Q9H4I8 SEHL2_HUMAN serine hydrolase-like 2 220 perinuclear region of cytoplasm|peroxisome hydrolase activity breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1) 8 CAGAGAACAGCATTGACTTCA 0.537000 3 102 1 1 1 1 0 SCN4A 6329 broad.mit.edu 37 17 62041134 62041134 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr17:62041134G>A ENST00000435607.1 - 10 1580 c.1504C>T c.(1504-1506)Cat>Tat p.H502Y SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 502 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCTTTGCCATGGGCTGGGTCC 0.637000 7 22 0 0 1 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124236942 124236942 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr12:124236942G>A ENST00000330342.3 + 17 2416 c.2168G>A c.(2167-2169)tGt>tAt p.C723Y NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 723 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) GAAATGGCGTGTGAAGAGGTA 0.343000 3 87 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181921 128181921 + Silent SNP C C G TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr3:128181921C>G ENST00000469083.1 - 2 2725 c.168G>C c.(166-168)ctG>ctC p.L56L DNAJB8_ENST00000319153.3_Silent_p.L56L Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 56 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) TGGAGTCAGACAGAACCTCAT 0.612000 23 218 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558852 113558852 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr7:113558852G>A ENST00000284601.3 - 1 268 c.200C>T c.(199-201)gCt>gTt p.A67V NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 67 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AAAGGAATCAGCAAATGAAAC 0.423000 3 98 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 21 0 0 1 0 0 TCTA 6988 broad.mit.edu 37 3 49449979 49449981 + In_Frame_Del DEL GCT GCT - TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr3:49449979_49449981delGCT ENST00000273590.3 + 1 341_343 c.120_122delGCT c.(118-123)aag>aa p.KL40del TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000265538.3_5'UTR NM_022171.2 NP_071503.1 P57738 TCTA_HUMAN T-cell leukemia translocation altered 40 integral to membrane large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCTCTTCAAGCTGCTGCTGCTG 0.645 8 457 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 4 6 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 7 305 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 6 13 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62299581 62299581 + Frame_Shift_Del DEL C C - TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr11:62299581delC ENST00000378024.4 - 5 2582 c.2308delG c.(2308-2310)atfs p.D770fs AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 770 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) AGGTTCACATCCACTTCTGGG 0.502 46 333 --- --- --- --- PRPF40B 25766 broad.mit.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr12:50025258delC ENST00000261897.1 + 2 626 c.75delC c.(73-75)atfs p.I25fs PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.I31fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 31 Pro-rich. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CACCAGCTATCCCCCCCATGC 0.607 7 390 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 8 180 --- --- --- --- IGHV7-81 0 broad.mit.edu 37 14 107283267 107283269 + RNA DEL TGT TGT - TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr14:107283267_107283269delTGT ENST00000390639.2 - 0 11_13 CAAGGAGGGATGTTGTTGTTGGG 0.493 11 90 --- --- --- --- AC005562.1 0 broad.mit.edu 37 17 28960996 28960997 + RNA INS - - TC TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr17:28960996_28960997insTC ENST00000417404.1 + 0 1269 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA tttttctttttttttttttttt 0.302 3 6 --- --- --- ---