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 LAMA5 3911 broad.mit.edu 37 20 60888747 60888747 + Silent SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr20:60888747G>A ENST00000252999.3 - 63 8682 c.8616C>T c.(8614-8616)gaC>gaT p.D2872D NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2872 Laminin G-like 1. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGACGAAGTCGTCTGGCCGCA 0.662000 67 83 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 8 50 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34950354 34950354 + Missense_Mutation SNP A A G TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr5:34950354A>G ENST00000382021.2 + 11 1627 c.1400A>G c.(1399-1401)gAc>gGc p.D467G DNAJC21_ENST00000342382.4_Missense_Mutation_p.D422G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D435G|DNAJC21_ENST00000512136.1_3'UTR NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 422 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TTAAATCAAGACAGTGCCAAA 0.358000 3 47 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202900715 202900715 + Missense_Mutation SNP C C T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr2:202900715C>T ENST00000286201.1 + 1 1406 c.1345C>T c.(1345-1347)Cgt>Tgt p.R449C NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 449 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 GTCCCTCTTCCGTATCCGCAC 0.612000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 93 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 4 65 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 164 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50538030 50538030 + Translation_Start_Site SNP A A T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr22:50538030A>T ENST00000395843.1 + 0 443 MOV10L1_ENST00000262794.5_Splice_Site_p.E147_splice|MOV10L1_ENST00000545383.1_Splice_Site_p.E147_splice|MOV10L1_ENST00000395858.3_Splice_Site_p.E147_splice|MOV10L1_ENST00000540615.1_Splice_Site_p.E127_splice|MOV10L1_ENST00000475190.1_3'UTR Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GTGTGTGCGAAGGTATGCTCA 0.512000 14 41 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237957283 237957283 + Silent SNP C C T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr1:237957283C>T ENST00000366574.2 + 95 14216 c.13899C>T c.(13897-13899)ctC>ctT p.L4633L RYR2_ENST00000360064.6_Silent_p.L4639L|RYR2_ENST00000542537.1_Silent_p.L4617L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4633 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGATAGACTCGTAATCAACA 0.363000 15 18 0 0 1 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128879232 128879232 + Silent SNP A A T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chrX:128879232A>T ENST00000371106.3 + 4 480 c.288A>T c.(286-288)acA>acT p.T96T XPNPEP2_ENST00000371105.3_Silent_p.T96T NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 96 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 CAGGCTTTACAGGGTCTGCAG 0.488000 3 30 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146044497 146044497 + Missense_Mutation SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr4:146044497G>A ENST00000296577.4 + 15 2020 c.1505G>A c.(1504-1506)cGa>cAa p.R502Q OTUD4_ENST00000455611.2_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 502 ABC transporter 2. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) ATGGCAGCTCGAGTTGTCAAA 0.383000 37 32 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107314667 107314667 + Silent SNP C C T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr7:107314667C>T ENST00000265715.3 + 5 698 c.474C>T c.(472-474)gaC>gaT p.D158D NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 158 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TGGCCCCCGACGAACACTTTC 0.433000 Pendred syndrome 5 80 0 0 1 0 0 ACSF3 197322 broad.mit.edu 37 16 89180794 89180794 + Missense_Mutation SNP A A G TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr16:89180794A>G ENST00000317447.4 + 6 1402 c.1025A>G c.(1024-1026)aAg>aGg p.K342R ACSF3_ENST00000406948.3_Missense_Mutation_p.K342R|ACSF3_ENST00000378345.4_Missense_Mutation_p.K77R|CTD-2555A7.3_ENST00000562782.1_RNA NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 342 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) GTGCTGGAGAAGTGGAAGAAC 0.647000 32 90 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104510918 104510918 + Missense_Mutation SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr4:104510918G>A ENST00000304883.2 - 5 1459 c.1319C>T c.(1318-1320)tCt>tTt p.S440F RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 440 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) ATTCCTGCGAGAGCAGCCATT 0.478000 68 107 0 0 1 0 0 G0S2 50486 broad.mit.edu 37 1 209849305 209849305 + Silent SNP C C T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr1:209849305C>T ENST00000367029.4 + 2 438 c.276C>T c.(274-276)ggC>ggT p.G92G RP1-28O10.1_ENST00000441672.1_RNA NM_015714.3 NP_056529.1 P27469 G0S2_HUMAN G0/G1switch 2 92 cell cycle large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.041) CGGTCCTCGGCGGCCGGGCCC 0.667000 13 22 0 0 1 0 0 CREB3 10488 broad.mit.edu 37 9 35736644 35736644 + Missense_Mutation SNP A A C TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr9:35736644A>C ENST00000353704.2 + 9 1475 c.1037A>C c.(1036-1038)cAg>cCg p.Q346P CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 370 Pro-rich. chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CTCCCCCTGCAGGCAAATCTC 0.567000 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 187 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070719 141070719 + RNA SNP C C T rs12353121 by1000genomes TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr9:141070719C>T ENST00000503395.1 + 0 1494 GCGGAGCTGACGGAGTCAGTG 0.617000 3 18 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38188968 38188968 + Missense_Mutation SNP G G T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr17:38188968G>T ENST00000394126.1 - 8 1363 c.945C>A c.(943-945)ttC>ttA p.F315L MED24_ENST00000394128.2_Missense_Mutation_p.F290L|MED24_ENST00000356271.3_Missense_Mutation_p.F277L|MED24_ENST00000394127.2_Missense_Mutation_p.F277L|MED24_ENST00000501516.3_Missense_Mutation_p.F309L O75448 MED24_HUMAN mediator complex subunit 24 290 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) TGAGCCCCACGAAGCAAGCTT 0.577000 23 21 6.21321e-17 6.61842e-17 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c 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 22 34 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50100109 50100109 + Silent SNP A A C TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr19:50100109A>C ENST00000418929.2 + 4 2529 c.2517A>C c.(2515-2517)ccA>ccC p.P839P NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 18 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTCCACCGCCACCCCCGCCTC 0.741000 3 2 0 0 1 0 0 FAM20A 54757 broad.mit.edu 37 17 66533685 66533685 + Missense_Mutation SNP C C G TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr17:66533685C>G ENST00000592554.1 - 11 2281 c.1559G>C c.(1558-1560)aGt>aCt p.S520T PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 520 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) GACTATGACACTCTGCTGTCC 0.572000 3 30 0 0 1 0 0 CNNM1 26507 broad.mit.edu 37 10 101124220 101124220 + Missense_Mutation SNP A A G TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr10:101124220A>G ENST00000356713.4 + 5 2364 c.2075A>G c.(2074-2076)aAt>aGt p.N692S CNNM1_ENST00000446890.1_Missense_Mutation_p.N621S|CNNM1_ENST00000370534.4_Missense_Mutation_p.N327S|CNNM1_ENST00000370528.3_Missense_Mutation_p.N621S NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 692 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) CGCTTTGAAAATGGAGCCTTT 0.423000 7 15 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113194246 113194246 + Missense_Mutation SNP A A G TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr9:113194246A>G ENST00000401783.2 - 32 5638 c.5302T>C c.(5302-5304)Tac>Cac p.Y1768H SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1745H NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1768 EGF-like 7; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GAACATATGTAGGATCCATCT 0.378000 28 64 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891396 4891396 + Missense_Mutation SNP G G C TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr19:4891396G>C ENST00000381781.2 - 3 690 c.691C>G c.(691-693)Cag>Gag p.Q231E NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 231 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) CCCTCGTACTGTATGTGGGCA 0.587000 13 31 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408297 47408297 + Missense_Mutation SNP C C G TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr7:47408297C>G ENST00000398879.1 - 17 2312 c.1946G>C c.(1945-1947)aGt>aCt p.S649T TNS3_ENST00000355730.3_Missense_Mutation_p.S409T|TNS3_ENST00000311160.9_Missense_Mutation_p.S649T Q68CZ2 TENS3_HUMAN tensin 3 649 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 ATGTGGCCCACTGCCTACACC 0.642000 4 174 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 218471 218471 + Translation_Start_Site SNP A A G rs1061517 TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr5:218471A>G ENST00000264932.6 + 1 116 c.1A>G c.(1-3)Atg>Gtg p.M1V SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 1 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AACAGCAGACATGTCGGGGGT 0.776000 Familial Paragangliomas 11 20 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 33 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64423124 64423124 + Silent SNP C C G TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr6:64423124C>G ENST00000262043.3 + 16 5980 c.5640C>G c.(5638-5640)ggC>ggG p.G1880G PHF3_ENST00000393387.1_Silent_p.G1880G Q92576 PHF3_HUMAN PHD finger protein 3 1880 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GGTATATAGGCCCGCAGAATT 0.507000 12 148 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440295 40440295 + Missense_Mutation SNP C C T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr4:40440295C>T ENST00000319592.4 - 4 1325 c.616G>A c.(616-618)Gcg>Acg p.A206T RBM47_ENST00000514014.1_Missense_Mutation_p.A168T|RBM47_ENST00000381795.6_Missense_Mutation_p.A206T|RBM47_ENST00000381793.2_Missense_Mutation_p.A206T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.A206T A0AV96 RBM47_HUMAN RNA binding motif protein 47 206 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 ATGGCAGCCGCGCGGTGGCTC 0.667000 4 99 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109616926 109616926 + Missense_Mutation SNP C C G TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr12:109616926C>G ENST00000338432.7 + 10 1590 c.1471C>G c.(1471-1473)Ctc>Gtc p.L491V ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.L491V|ACACB_ENST00000377854.5_Missense_Mutation_p.L491V O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 491 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GCCCATCTTTCTCATGAAGCT 0.562000 14 27 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45895364 45895364 + Missense_Mutation SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr19:45895364G>A ENST00000418234.2 - 8 1667 c.1589C>T c.(1588-1590)gCc>gTc p.A530V PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A530V NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 530 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CACAGCAGGGGCCTGCTCCAT 0.687000 12 53 0 0 1 0 0 EXTL1 2134 broad.mit.edu 37 1 26349229 26349229 + Missense_Mutation SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr1:26349229G>A ENST00000374280.3 + 1 959 c.92G>A c.(91-93)cGc>cAc p.R31H NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 31 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TCCCTTCTCCGCCTGGCATTG 0.657000 28 11 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19752393 19752393 + Missense_Mutation SNP C C T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr13:19752393C>T ENST00000400113.3 - 3 472 c.368G>A c.(367-369)cGc>cAc p.R123H NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 123 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TACCAGTTTGCGGATCCGGTC 0.517000 4 106 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35183494 35183494 + Silent SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr21:35183494G>A ENST00000381318.3 + 21 2823 c.2535G>A c.(2533-2535)acG>acA p.T845T ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000399326.3_Silent_p.T840T|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381291.4_Silent_p.T845T|ITSN1_ENST00000399338.4_Silent_p.T840T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Silent_p.T840T NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 845 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AGCCCTCCACGACCCCTAATA 0.547000 36 97 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172501694 172501694 + Missense_Mutation SNP C C T TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr3:172501694C>T ENST00000417960.1 + 16 2104 c.1627C>T c.(1627-1629)Ctc>Ttc p.L543F ECT2_ENST00000441497.2_Missense_Mutation_p.L544F|ECT2_ENST00000427830.1_Missense_Mutation_p.L544F|ECT2_ENST00000540509.1_Missense_Mutation_p.L575F|ECT2_ENST00000392692.3_Missense_Mutation_p.L575F|ECT2_ENST00000232458.5_Missense_Mutation_p.L544F NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 544 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TCATGCTTTTCTCAAGGTAAT 0.274000 17 22 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560876 210560878 + In_Frame_Del DEL GAA GAA - TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr2:210560876_210560878delGAA ENST00000360351.4 + 7 4488_4490 c.3982_3984delGAA c.(3982-3984)del p.E1330del MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_In_Frame_Del_p.E1326del|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1330 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TCCTCATGATGAAGAAGAGTTTG 0.537 7 136 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41275294 41275294 + Frame_Shift_Del DEL T T - TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr3:41275294delT ENST00000349496.5 + 9 1740 c.1460delT c.(1459-1461)ctfs p.L487fs CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.L480fs NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 487 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GCAGTTCGCCTTCACTATGGA 0.493 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 105 166 --- --- --- --- FBLL1 0 broad.mit.edu 37 5 167956851 167956853 + In_Frame_Del DEL GGA GGA - TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr5:167956851_167956853delGGA ENST00000338333.4 + 1 731_733 c.342_344delGGA c.(340-345)gcg>gc p.AE114del ACCGCGGGGCGGAGGACGCGCTG 0.709 2 4 --- --- --- --- SGK223 0 broad.mit.edu 37 8 8234817 8234819 + In_Frame_Del DEL TCA TCA - TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr8:8234817_8234819delTCA ENST00000520004.1 - 3 1364_1366 c.1100_1102delTGA c.(1099-1104)aag>a p.MK367del SGK223_ENST00000330777.4_In_Frame_Del_p.MK367del Q86YV5 SG223_HUMAN 367 ATP binding|non-membrane spanning protein tyrosine kinase activity GCAGGTTCCTTCATGAGGGAGCA 0.680 15 26 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76784946 76784949 + Frame_Shift_Del DEL ACAA ACAA - TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr10:76784946_76784949delACAA ENST00000287239.4 + 17 4092_4095 c.3603_3606delACAA c.(3601-3606)agfs p.RQ1201fs KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1201 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GGAAGAAAAGACAAACAGAGGAAG 0.451 14 37 --- --- --- --- RP11-20E24.1 0 broad.mit.edu 37 12 76993936 76993936 + RNA DEL C C - TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr12:76993936delC ENST00000551082.1 + 0 121 CCACGTGGATCCCATTGAGCT 0.532 2 4 --- --- --- --- RBBP6 5930 broad.mit.edu 37 16 24567746 24567747 + Frame_Shift_Ins INS - - A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr16:24567746_24567747insA ENST00000319715.4 + 7 1084_1085 c.652_653insA c.(652-654)tgcfs p.C218fs RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.C218fs|RBBP6_ENST00000381039.3_Frame_Shift_Ins_p.C218fs NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 218 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CACTGGAAAATATGCAATACCA 0.401 14 51 --- --- --- --- ZACN 353174 broad.mit.edu 37 17 74075804 74075805 + Frame_Shift_Ins INS - - CC TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr17:74075804_74075805insCC ENST00000334586.5 + 3 327_328 c.244_245insCC c.(244-246)ctcfs p.L82fs ZACN_ENST00000392503.2_Intron NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 82 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 ATACACAATGTCCTCCATGCTG 0.569 21 55 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42797776 42797777 + Frame_Shift_Del DEL GC GC - TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr19:42797776_42797777delGC ENST00000572681.2 + 17 6617_6618 c.6549_6550delGC c.(6547-6552)tggcfs p.WR2183fs CIC_ENST00000575354.2_Frame_Shift_Del_p.WR1276fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.WR1274fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding 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) CTTCAGACTGGCGCGTCCCTGG 0.649 """Mis, F, S""" oligodendroglioma 10 8 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42798989 42798990 + Frame_Shift_Ins INS - - A rs148444899 TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chr19:42798989_42798990insA ENST00000572681.2 + 21 7259_7260 c.7191_7192insA c.(7189-7194)gcccttfs p.L2398fs CIC_ENST00000575354.2_Frame_Shift_Ins_p.L1492fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.L1490fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding 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) AGGCCACAGCCGCCTTCCAGGC 0.574 """Mis, F, S""" oligodendroglioma 8 71 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a802c3-cb5f-48d0-b06f-8a526841caf2 d2f44aee-6bf6-4683-a741-75833c96b28c g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 4 --- --- --- ---