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 RTKN2 219790 broad.mit.edu 37 10 64005797 64005797 + Missense_Mutation SNP T T C TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr10:64005797T>C ENST00000373789.3 - 3 373 c.277A>G c.(277-279)Aaa>Gaa p.K93E RTKN2_ENST00000395265.1_Missense_Mutation_p.K93E|RTKN2_ENST00000395260.3_Missense_Mutation_p.K93E NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 93 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) GTTCGTTCTTTACTTTCAAAT 0.279000 7 202 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45478983 45478983 + Splice_Site SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr21:45478983G>A ENST00000291574.4 + 6 853 c.e6-1 TRAPPC10_ENST00000380221.3_Splice_Site NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 TGGGCGAATAGGAGGAGCTTG 0.448000 15 251 0 0 1 0 0 REEP2 51308 broad.mit.edu 37 5 137777145 137777145 + Silent SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr5:137777145C>T ENST00000378339.2 + 3 369 c.177C>T c.(175-177)ctC>ctT p.L59L REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000506158.1_Silent_p.L21L|REEP2_ENST00000254901.5_Silent_p.L59L NM_001271803.1 NP_001258732.1 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 59 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ATATAGTGCTCTCCTGGTGAG 0.592000 8 162 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 112 0 0 1 0 0 PCDHB2 0 broad.mit.edu 37 5 140475695 140475695 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr5:140475695G>A ENST00000194155.4 + 1 1469 c.1321G>A c.(1321-1323)Gtg>Atg p.V441M NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 441 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACATAACCGTGCTGGTCTC 0.602000 7 711 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69615826 69615826 + Missense_Mutation SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chrX:69615826C>T ENST00000374403.3 + 22 2498 c.2416C>T c.(2416-2418)Cgt>Tgt p.R806C KIF4A_ENST00000374388.3_Missense_Mutation_p.R806C NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 806 Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 TACTGAAGTGCGTGGTCAAGT 0.398000 4 119 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644684 20644684 + RNA SNP G G C TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr15:20644684G>C ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACAGGGAAGGGAGACGGCCAC 0.632000 4 26 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44268880 44268880 + Missense_Mutation SNP G G C rs151163620 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr18:44268880G>C ENST00000315087.7 - 4 974 c.314C>G c.(313-315)tCt>tGt p.S105C ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S74C|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S141C|ST8SIA5_ENST00000590497.1_Intron NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 105 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GGACAGAGTAGACCTGCCAGG 0.587000 6 169 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 51 0 0 1 0 0 C9orf24 84688 broad.mit.edu 37 9 34381395 34381395 + Silent SNP A A T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr9:34381395A>T ENST00000297623.2 - 4 642 c.444T>A c.(442-444)ccT>ccA p.P148P C9orf24_ENST00000379133.3_Silent_p.P13P|C9orf24_ENST00000379127.1_Silent_p.P13P|C9orf24_ENST00000379126.3_Silent_p.P13P|C9orf24_ENST00000379124.1_Silent_p.P13P NM_032596.3 NP_115985.2 Q8NCR6 CI024_HUMAN chromosome 9 open reading frame 24 148 endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.123) CCGGCCTAGGAGGGCATTCCA 0.617000 29 332 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51667598 51667598 + Silent SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr3:51667598C>T ENST00000409535.1 + 7 956 c.831C>T c.(829-831)ggC>ggT p.G277G RAD54L2_ENST00000296477.3_5'UTR NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 277 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GTCAGATTGGCGGGATCCGGT 0.473000 6 442 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48273541 48273541 + Missense_Mutation SNP C C T rs72645356 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr17:48273541C>T ENST00000225964.5 - 15 1095 c.977G>A c.(976-978)gGt>gAt p.G326D NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 326 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCAGTAGCACCATCATTTCC 0.632000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 9 119 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8784265 8784265 + Silent SNP C C T rs139433913 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr18:8784265C>T ENST00000359865.3 + 6 1297 c.1155C>T c.(1153-1155)agC>agT p.S385S SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.S385S|SOGA2_ENST00000400050.3_Silent_p.S385S|SOGA2_ENST00000306329.11_Silent_p.S745S NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 736 CCCGGGACAGCGATGCCGAGA 0.677000 5 159 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124743218 124743218 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr11:124743218G>A ENST00000397801.1 + 10 1741 c.1549G>A c.(1549-1551)Ggc>Agc p.G517S ROBO3_ENST00000538940.1_Missense_Mutation_p.G495S NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 517 Ig-like C2-type 5. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GATGGACATGGGCTTCTACAG 0.542000 3 59 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17412369 17412369 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:17412369G>A ENST00000247706.3 - 2 296 c.57C>T c.(55-57)aaC>aaT p.N19N MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 19 hydrolase activity p.N19N(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 GCCCCACGGCGTTGGGGGGCG 0.652000 12 108 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73151305 73151305 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr9:73151305G>A ENST00000377110.2 - 25 4931 c.4688C>T c.(4687-4689)gCg>gTg p.A1563V TRPM3_ENST00000396285.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1425V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1435V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1567V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1590V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1435V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1422V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1425V|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1412V|TRPM3_ENST00000377111.2_Intron NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1588 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AGCTCTGTCCGCAATTGCTTG 0.493000 5 385 0 0 1 0 0 SRPX2 27286 broad.mit.edu 37 X 99925874 99925874 + Missense_Mutation SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chrX:99925874C>T ENST00000373004.3 + 11 1716 c.1288C>T c.(1288-1290)Cgc>Tgc p.R430C NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 430 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 TGACCGAGACCGCTACATGGA 0.512000 OREG0019890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 142 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51647799 51647799 + Silent SNP C C G TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:51647799C>G ENST00000317643.6 + 2 639 c.570C>G c.(568-570)tcC>tcG p.S190S SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 190 Ig-like C2-type 1. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CCTCTGTGTCCCCCCTGCACC 0.662000 20 374 0 0 1 0 0 PCDHAC2 0 broad.mit.edu 37 5 140347507 140347507 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr5:140347507G>A ENST00000289269.5 + 1 1688 c.1156G>A c.(1156-1158)Gtt>Att p.V386I PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 386 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTGTGGCCGTTCTCAGTGT 0.557000 5 280 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 4 97 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17156533 17156533 + Silent SNP T T C TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr11:17156533T>C ENST00000265970.7 - 10 1940 c.1941A>G c.(1939-1941)caA>caG p.Q647Q PIK3C2A_ENST00000540361.1_Silent_p.Q267Q|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 647 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) CTGCAGTTAATTGGTTTATGC 0.373000 31 422 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98671972 98671972 + Missense_Mutation SNP G G T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr13:98671972G>T ENST00000261574.5 + 27 3208 c.3028G>T c.(3028-3030)Gtc>Ttc p.V1010F IPO5_ENST00000490680.1_Missense_Mutation_p.V992F|IPO5_ENST00000539640.1_Missense_Mutation_p.V867F NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 992 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 CGTTGAAGAGGTCCTTCCACA 0.413000 32 424 1.80694e-10 1.95007e-10 1 1 0 FAT3 120114 broad.mit.edu 37 11 92577822 92577822 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr11:92577822G>A ENST00000298047.6 + 18 11306 c.11289G>A c.(11287-11289)gcG>gcA p.A3763A FAT3_ENST00000533797.1_Silent_p.A98A|FAT3_ENST00000525166.1_Silent_p.A3613A|FAT3_ENST00000409404.2_Silent_p.A3763A Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3763 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTCCCACGCGCTCATGACCT 0.532000 TCGA Ovarian(4;0.039) 4 61 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 13 165 0 0 1 0 0 FGGY 55277 broad.mit.edu 37 1 60106978 60106978 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr1:60106978G>A ENST00000371218.4 + 12 1432 c.1248G>A c.(1246-1248)ccG>ccA p.P416P FGGY_ENST00000303721.7_Intron|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371210.1_Intron NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 407 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TGTATATTCCGGCTTTGGCAG 0.368000 4 144 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179548100 179548100 + Missense_Mutation SNP A A C TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr5:179548100A>C ENST00000393371.2 - 6 1060 c.764T>G c.(763-765)tTc>tGc p.F255C RASGEF1C_ENST00000522500.1_Missense_Mutation_p.F104C|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.F255C|RASGEF1C_ENST00000519883.1_5'UTR Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 255 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGCCTGTTGAACCATTTCAC 0.557000 16 286 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16745312 16745312 + Silent SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr2:16745312C>T ENST00000381323.3 - 5 463 c.243G>A c.(241-243)gcG>gcA p.A81A FAM49A_ENST00000355549.2_Silent_p.A81A|FAM49A_ENST00000406434.1_Silent_p.A81A NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 81 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) GAGGGCACACCGCATTCCAAG 0.408000 12 253 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27324303 27324303 + Missense_Mutation SNP C C T rs113949888 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr2:27324303C>T ENST00000402394.1 - 6 1064 c.796G>A c.(796-798)Gaa>Aaa p.E266K CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 258 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATCTCCTTCAGCCTCTGCC 0.687000 6 439 0 0 1 0 0 IGF2 3481 broad.mit.edu 37 11 2154783 2154783 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr11:2154783G>A ENST00000416167.2 - 3 1436 c.270C>T c.(268-270)tcC>tcT p.S90S IGF2_ENST00000434045.2_Silent_p.S146S|IGF2_ENST00000300632.5_Silent_p.S90S|IGF2_ENST00000337883.6_Silent_p.S90S|IGF2_ENST00000381389.1_Silent_p.S90S|IGF2_ENST00000418738.2_Silent_p.S90S|IGF2_ENST00000381392.1_Silent_p.S93S|IGF2_ENST00000381395.1_Silent_p.S90S|IGF2_ENST00000381406.4_Silent_p.S93S P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 90 D. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CGTCCCTCTCGGACTTGGCGG 0.652000 9 93 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61558987 61558987 + Missense_Mutation SNP T T C TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr17:61558987T>C ENST00000290866.4 + 7 1030 c.1006T>C c.(1006-1008)Tcc>Ccc p.S336P ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.S336P|ACE_ENST00000428043.1_Missense_Mutation_p.S336P NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 336 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CCTGGAGCTCTCCCCCATGCC 0.657000 4 120 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49950199 49950199 + Missense_Mutation SNP T T C TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr12:49950199T>C ENST00000257981.6 + 13 2775 c.2515T>C c.(2515-2517)Ttc>Ctc p.F839L NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 839 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CCAGCCCAAGTTCTCTTTCCG 0.622000 12 293 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18331091 18331091 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:18331091G>A ENST00000355502.3 - 11 1618 c.747C>T c.(745-747)tcC>tcT p.S249S PDE4C_ENST00000539010.1_Silent_p.S18S|PDE4C_ENST00000594617.2_Silent_p.S249S|PDE4C_ENST00000447275.2_Silent_p.S143S|PDE4C_ENST00000594465.2_Silent_p.S249S|PDE4C_ENST00000262805.11_Silent_p.S217S|AC068499.10_ENST00000594805.2_RNA Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 249 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GGCTGGTTTCGGACAGGTGGG 0.597000 7 619 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52448449 52448449 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:52448449G>A ENST00000293471.6 + 6 1992 c.1313G>A c.(1312-1314)aGc>aAc p.S438N ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.S402N NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) AAAGGCTTCAGCCAGAAGACA 0.443000 26 319 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620233 144620233 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr8:144620233G>A ENST00000262577.5 - 2 1335 c.1304C>T c.(1303-1305)cCg>cTg p.P435L NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 435 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) AGCCGAGAGCGGGGTCTCCCC 0.642000 5 154 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55501405 55501405 + Silent SNP C C T rs148932752 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:55501405C>T ENST00000543010.1 + 9 2525 c.2382C>T c.(2380-2382)tcC>tcT p.S794S NLRP2_ENST00000391721.4_Silent_p.S770S|NLRP2_ENST00000263437.6_Silent_p.S791S|NLRP2_ENST00000537859.1_Silent_p.S772S|NLRP2_ENST00000448584.2_Silent_p.S794S|NLRP2_ENST00000427260.2_Silent_p.S771S|NLRP2_ENST00000339757.7_Silent_p.S772S|NLRP2_ENST00000538819.1_Silent_p.S770S NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 794 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGTCTTGTTCCGCTACCACTC 0.512000 23 257 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21071440 21071440 + Silent SNP C C T rs144814158 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr1:21071440C>T ENST00000375003.2 - 9 2556 c.1056G>A c.(1054-1056)acG>acA p.T352T HP1BP3_ENST00000312239.5_Silent_p.T504T Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 504 H15 3. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TCTTGGCAGGCGTTTTGGCCT 0.527000 12 334 0 0 1 0 0 INS-IGF2 0 broad.mit.edu 37 11 2182109 2182109 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr11:2182109G>A ENST00000397270.1 - 2 151 c.93C>T c.(91-93)tgC>tgT p.C31C INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000381330.4_Silent_p.C31C NM_001042376.2 NP_001035835.1 Q1WM24 Q1WM24_HUMAN 31 glucose metabolic process extracellular region hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) GGTGTGAGCCGCACAGGTGTT 0.652000 7 194 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122292622 122292622 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr12:122292622G>A ENST00000543163.1 - 8 729 c.284C>T c.(283-285)gCt>gTt p.A95V HPD_ENST00000289004.4_Missense_Mutation_p.A134V NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 134 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) CTGCAGCACAGCAAACTTCAC 0.597000 7 528 0 0 1 0 0 LRRC71 149499 broad.mit.edu 37 1 156897574 156897574 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr1:156897574G>A ENST00000337428.7 + 8 1026 c.872G>A c.(871-873)cGc>cAc p.R291H LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 291 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 GCCCACAACCGCATCCAGGAC 0.716000 OREG0013892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 184 0 0 1 0 0 RETN 56729 broad.mit.edu 37 19 7735211 7735211 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:7735211G>A ENST00000221515.2 + 4 391 c.303G>A c.(301-303)gcG>gcA p.A101A RETN_ENST00000381324.2_Silent_p.A75A NM_001193374.1|NM_020415.3 NP_001180303.1|NP_065148.1 Q9HD89 RETN_HUMAN resistin 101 hormone activity ovary(1) 1 GGACCGGAGCGCGCTGCTGTC 0.706000 4 41 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3612314 3612314 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:3612314G>A ENST00000429344.2 - 10 1936 c.1884C>T c.(1882-1884)acC>acT p.T628T CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Silent_p.T628T|CACTIN_ENST00000221899.3_Silent_p.T560T NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit AGGCCTTGCCGGTGAGTGGCA 0.652000 4 182 0 0 1 0 0 DEFB119 245932 broad.mit.edu 37 20 29965177 29965177 + Missense_Mutation SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr20:29965177C>T ENST00000376321.3 - 2 246 c.127G>A c.(127-129)Gaa>Aaa p.E43K DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR NM_153289.2 NP_695021.2 Q8N690 DB119_HUMAN defensin, beta 119 43 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TAGGGCTGTTCGTTCTTTTTG 0.433000 33 602 0 0 1 0 0 METTL21C 196541 broad.mit.edu 37 13 103343178 103343178 + Silent SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr13:103343178C>T ENST00000267273.6 - 2 272 c.267G>A c.(265-267)gcG>gcA p.A89A NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 89 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 GCCACACCACCGCTCCGTAAC 0.453000 21 181 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79570968 79570968 + Silent SNP G G T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr10:79570968G>T ENST00000372391.2 - 23 4352 c.4347C>A c.(4345-4347)acC>acA p.T1449T DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.T1109T NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1449 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GAGTGGAGTGGGTACCGGCAG 0.647000 5 281 0.00116845 0.00120151 1 1 0 PRDM16 63976 broad.mit.edu 37 1 3331138 3331138 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr1:3331138G>A ENST00000378398.3 + 11 2700 c.2618G>A c.(2617-2619)cGg>cAg p.R873Q PRDM16_ENST00000514189.1_Missense_Mutation_p.R873Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.R874Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R873Q|PRDM16_ENST00000270722.5_Missense_Mutation_p.R873Q|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 873 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GTAGAAAAGCGGAAGGTCACA 0.687000 T EVI1 """MDS, AML""" 4 89 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62283987 62283987 + Silent SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr15:62283987C>T ENST00000261517.5 - 17 1441 c.1368G>A c.(1366-1368)ggG>ggA p.G456G VPS13C_ENST00000249837.3_Silent_p.G413G|VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 456 protein localization p.G456G(1) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTAATTTTTGCCCAGACCGAA 0.383000 6 503 0 0 1 0 0 TGFBR1 7046 broad.mit.edu 37 9 101891209 101891209 + Missense_Mutation SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr9:101891209C>T ENST00000374994.4 + 2 287 c.170C>T c.(169-171)tCt>tTt p.S57F TGFBR1_ENST00000552516.1_Missense_Mutation_p.S57F|TGFBR1_ENST00000374990.2_Missense_Mutation_p.S57F|TGFBR1_ENST00000550253.1_5'UTR NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 57 activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) TGCTTTGTCTCTGTCACAGAG 0.408000 43 483 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21628848 21628848 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr7:21628848G>A ENST00000328843.6 + 12 2027 c.1996G>A c.(1996-1998)Gct>Act p.A666T DNAH11_ENST00000409508.3_Missense_Mutation_p.A666T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 666 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCCTGATCACGCTTTAGTTTA 0.303000 Kartagener syndrome 15 199 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234229331 234229331 + Silent SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr2:234229331C>T ENST00000409110.1 + 5 467 c.237C>T c.(235-237)atC>atT p.I79I SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 79 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TTGACGTGATCGGCTTGACCT 0.607000 6 48 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 5 72 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119568524 119568524 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr12:119568524G>A ENST00000267260.4 + 8 1044 c.656G>A c.(655-657)cGa>cAa p.R219Q SRRM4_ENST00000537597.1_3'UTR NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 219 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 AAGTCCCGCCGAAGGCACTCC 0.657000 4 72 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606468 21606468 + Missense_Mutation SNP C C T rs142651314 byFrequency TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:21606468C>T ENST00000392288.2 + 4 1116 c.1007C>T c.(1006-1008)cCt>cTt p.P336L ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TTCTCAACCCCTACTAAACAT 0.348000 5 391 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16006353 16006353 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:16006353G>A ENST00000221700.5 - 3 401 c.306C>T c.(304-306)tgC>tgT p.C102C CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 102 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding p.C102C(1) NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGTCGGGGTGGCACAAACTGA 0.597000 9 727 0 0 1 0 0 HERC2P9 0 broad.mit.edu 37 15 28929371 28929371 + RNA SNP G G T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr15:28929371G>T ENST00000528584.1 + 0 1908 NR_036443.1 GGAAGGAAAAGGCACACGCTG 0.453000 6 105 0.00116845 0.00120151 1 1 0 HOOK3 84376 broad.mit.edu 37 8 42805542 42805542 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr8:42805542G>A ENST00000307602.4 + 6 612 c.412G>A c.(412-414)Gcc>Acc p.A138T NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 138 Sufficient for interaction with microtubules. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GTACATCCAAGCCATTATGAT 0.353000 T RET papillary thyroid 12 594 0 0 1 0 0 PPP1R21 129285 broad.mit.edu 37 2 48698251 48698251 + Missense_Mutation SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr2:48698251C>T ENST00000294952.8 + 10 1080 c.923C>T c.(922-924)gCg>gTg p.A308V PPP1R21_ENST00000281394.4_Missense_Mutation_p.A308V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A308V NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 308 endometrium(2)|kidney(4)|lung(9) 15 CATGAAAATGCGTCCTATGTC 0.363000 4 260 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 6 26 3.86212e-05 4.0871e-05 1 1 0 AIM1 202 broad.mit.edu 37 6 106987390 106987390 + Missense_Mutation SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr6:106987390C>T ENST00000369066.3 + 7 4094 c.3607C>T c.(3607-3609)Cgg>Tgg p.R1203W NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1203 Beta/gamma crystallin 'Greek key' 4. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TGGATCCATGCGGCCTCTGAA 0.438000 6 423 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214557727 214557727 + Missense_Mutation SNP G G A rs138557012 byFrequency TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr1:214557727G>A ENST00000366956.5 - 13 1665 c.1471C>T c.(1471-1473)Cgg>Tgg p.R491W PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 491 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGCCTCTCCCGCATCTCCGGT 0.527000 7 647 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213690 9213690 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:9213690G>A ENST00000305456.2 - 1 292 c.293C>T c.(292-294)aCg>aTg p.T98M NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 CTTTGGGATCGTGGTTGTGCT 0.488000 25 402 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 269 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7728108 7728108 + Silent SNP A A C TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr3:7728108A>C ENST00000486284.1 + 10 3037 c.2763A>C c.(2761-2763)acA>acC p.T921T GRM7_ENST00000403881.1_Intron|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000402647.2_Silent_p.T921T|GRM7_ENST00000389336.4_Intron NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 0 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TCCCACCAACAGTATAGCTTT 0.323000 44 645 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47685731 47685731 + Silent SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr1:47685731C>T ENST00000371883.3 - 4 1239 c.663G>A c.(661-663)ccG>ccA p.P221P TAL1_ENST00000294339.3_Silent_p.P219P|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.P219P P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 219 Helix-loop-helix motif. basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 GCTTCTTGTCCGGGGGATGTG 0.587000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 21 306 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62045516 62045516 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr17:62045516G>A ENST00000578147.1 - 6 979 c.903C>T c.(901-903)taC>taT p.Y301Y SCN4A_ENST00000435607.1_Silent_p.Y301Y P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 301 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) TGTCATTGCCGTACCACGTGT 0.552000 6 546 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 5 48 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 5 61 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767067 77767067 + Missense_Mutation SNP A A G TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr8:77767067A>G ENST00000521891.2 + 10 8358 c.7910A>G c.(7909-7911)cAt>cGt p.H2637R ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2592 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATGCTTGATCATATTGCCCGC 0.507000 HNSCC(33;0.089) 11 186 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120629686 120629686 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr7:120629686G>A ENST00000310396.5 + 2 478 c.11G>A c.(10-12)cGc>cAc p.R4H CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.R4H|CPED1_ENST00000340646.5_Missense_Mutation_p.R4H NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 ATGGTCTGTCGCCCAGTGTTC 0.522000 7 392 0 0 1 0 0 FBXL5 26234 broad.mit.edu 37 4 15627448 15627448 + Missense_Mutation SNP A A G TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr4:15627448A>G ENST00000341285.3 - 9 1401 c.1277T>C c.(1276-1278)aTt>aCt p.I426T FBXL5_ENST00000382358.4_Missense_Mutation_p.I300T|FBXL5_ENST00000412094.2_Missense_Mutation_p.I409T NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 426 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 AGTTGAAGTAATTTTGCTTGT 0.393000 34 322 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644695 53644695 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:53644695G>A ENST00000452676.2 - 5 1815 c.1389C>T c.(1387-1389)tgC>tgT p.C463C ZNF347_ENST00000601469.2_Silent_p.C463C|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.C462C NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AGACCTTGCCGCATTCATGAC 0.433000 10 766 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 4 90 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195508380 195508380 + Silent SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr3:195508380G>A ENST00000463781.3 - 2 10530 c.10071C>T c.(10069-10071)caC>caT p.H3357H MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.H3357H NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 140 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 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 0.602000 5 18 0 0 1 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43701485 43701485 + Missense_Mutation SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr10:43701485C>T ENST00000395809.1 - 2 2586 c.80G>A c.(79-81)cGt>cAt p.R27H RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R27H|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R35H Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 27 cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity p.R27H(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 CCCGCCTCCACGCTCCCCCAT 0.637000 6 50 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34218927 34218927 + Nonsense_Mutation SNP C C A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr11:34218927C>A ENST00000435224.2 - 3 1613 c.1189G>T c.(1189-1191)Gag>Tag p.E397* ABTB2_ENST00000298992.2_Nonsense_Mutation_p.E211*|ABTB2_ENST00000530814.1_5'UTR NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 211 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) TCCATGGACTCCATCTGTGGA 0.632000 9 223 3.07112e-06 3.28188e-06 1 1 0 MAZ 4150 broad.mit.edu 37 16 29819148 29819148 + Splice_Site SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr16:29819148C>T ENST00000219782.6 + 2 1148 c.1043_splice c.e2+1 p.R348_splice MAZ_ENST00000562337.1_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Splice_Site_p.R325_splice|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000322945.6_Splice_Site_p.R348_splice NM_001042539.1 NP_001036004.1 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 348 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 GAGCTTCTCCCGGTGTGCACG 0.701000 15 184 0 0 1 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249545 71249545 + Silent SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr11:71249545C>T ENST00000398534.3 + 1 475 c.444C>T c.(442-444)tgC>tgT p.C148C NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 148 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 AGTCCAGCTGCTGTAAGCCCT 0.607000 10 913 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424481 125424481 + Missense_Mutation SNP A A G TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr9:125424481A>G ENST00000373686.1 + 1 637 c.637A>G c.(637-639)Act>Gct p.T213A Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CATTCTTCTGACTAATCAGCT 0.438000 7 781 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102196331 102196331 + Missense_Mutation SNP G G A rs79539385 by1000genomes TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr3:102196331G>A ENST00000306176.1 + 11 1265 c.1165G>A c.(1165-1167)Gca>Aca p.A389T ZPLD1_ENST00000466937.1_Missense_Mutation_p.A373T|ZPLD1_ENST00000491959.1_Missense_Mutation_p.A373T NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 373 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CATCACCAGCGCACTGATATC 0.473000 40 956 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72892025 72892025 + Missense_Mutation SNP T T G TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr7:72892025T>G ENST00000339594.4 - 7 2104 c.1766A>C c.(1765-1767)aAc>aCc p.N589T BAZ1B_ENST00000404251.1_Missense_Mutation_p.N589T NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 589 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TGCTGGAAGGTTTTTGCCAGT 0.458000 69 905 0 0 1 0 0 PCDHB3 0 broad.mit.edu 37 5 140481822 140481822 + Missense_Mutation SNP G G A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr5:140481822G>A ENST00000231130.2 + 1 1589 c.1589G>A c.(1588-1590)cGc>cAc p.R530H NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 530 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.R530H(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGAGTTCCGCGTGGGCGCC 0.667000 28 339 0 0 1 0 0 CDCA8 55143 broad.mit.edu 37 1 38166149 38166151 + In_Frame_Del DEL GAA GAA - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr1:38166149_38166151delGAA ENST00000373055.1 + 5 652_654 c.379_381delGAA c.(379-381)del p.E131del CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del NM_001256875.1|NM_018101.3 NP_001243804.1|NP_060571.1 Q53HL2 BOREA_HUMAN cell division cycle associated 8 131 Poly-Glu.|Required for interaction with SENP3. cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTGGAAGAGGAAGAAGAAGAAG 0.384 8 563 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155448996 155448996 + Frame_Shift_Del DEL T T - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr1:155448996delT ENST00000368346.3 - 3 4304 c.3665delA c.(3664-3666)agfs p.K1222fs ASH1L_ENST00000392403.3_Frame_Shift_Del_p.K1222fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1222 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATGCCTCCTCTTTTTTTGCCC 0.413 8 805 --- --- --- --- KLHL41 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr2:170366496delA ENST00000284669.1 + 1 285 c.208delA c.(208-210)aafs p.K72fs BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGATGAGGCGAAAAAAAAGGA 0.388 10 694 --- --- --- --- SCN10A 6336 broad.mit.edu 37 3 38750969 38750970 + Splice_Site INS - - T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr3:38750969_38750970insT ENST00000449082.2 - 24 4279_4280 c.4281_splice c.e24+1 p.I1427_splice NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1427 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CACCACTTATCTTTTTTTTCTG 0.411 7 602 --- --- --- --- DPPA4 55211 broad.mit.edu 37 3 109049606 109049606 + Frame_Shift_Del DEL T T - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr3:109049606delT ENST00000335658.6 - 5 498 c.444delA c.(442-444)aafs p.K148fs DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 148 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCACCTTTAATTTTTTTTGCA 0.413 7 437 --- --- --- --- TFDP2 7029 broad.mit.edu 37 3 141692946 141692947 + Frame_Shift_Ins INS - - T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr3:141692946_141692947insT ENST00000499676.2 - 8 1097_1098 c.426_427insA c.(424-429)aaaaatfs p.N143fs TFDP2_ENST00000310282.6_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000477292.1_Frame_Shift_Ins_p.N67fs|TFDP2_ENST00000489671.1_Frame_Shift_Ins_p.N203fs|TFDP2_ENST00000479040.1_Frame_Shift_Ins_p.N142fs|TFDP2_ENST00000486111.1_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000495310.1_Frame_Shift_Ins_p.N106fs|TFDP2_ENST00000397991.4_Frame_Shift_Ins_p.N175fs|TFDP2_ENST00000317104.7_Frame_Shift_Ins_p.N127fs|TFDP2_ENST00000467072.1_Frame_Shift_Ins_p.N143fs NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 203 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 CACTTGATTTCTTTTTTTTCCT 0.342 9 562 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57180576 57180577 + In_Frame_Ins INS - - GGAGCGGAGGGAGCGGAG rs71921617 by1000genomes TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG ENST00000504228.1 + 6 1013_1014 c.908_909insGGAGCGGAGGGAGCGGAG c.(907-909)gga>gGGAGCGGAGGGAGCGGAGga p.303_303G>GSGGSGG KIAA1211_ENST00000264229.6_In_Frame_Ins_p.303_303G>GSGGSGG|KIAA1211_ENST00000541073.1_In_Frame_Ins_p.296_296G>GSGGSGG Q6ZU35 K1211_HUMAN KIAA1211 303 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TGGGAGGACGCGGAGCGGAGGG 0.733 2 4 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128564917 128564917 + Frame_Shift_Del DEL A A - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr4:128564917delA ENST00000335251.5 + 2 491 c.388delA c.(388-390)aafs p.K131fs INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 131 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GCGCTGCAATAAAAAAAATAG 0.358 7 375 --- --- --- --- TLR3 7098 broad.mit.edu 37 4 186997814 186997814 + Frame_Shift_Del DEL T T - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr4:186997814delT ENST00000296795.2 + 2 145 c.41delT c.(40-42)ctfs p.L15fs NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 15 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TGGGGGGGCCTTTTGCCCTTT 0.458 7 510 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 7 596 --- --- --- --- KCNQ5 56479 broad.mit.edu 37 6 73332002 73332002 + Frame_Shift_Del DEL G G - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr6:73332002delG ENST00000342056.2 + 1 483 c.85delG c.(85-87)ggfs p.G30fs KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.G30fs NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 30 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ggcggcgggcggggggcgcTT 0.766 2 4 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000507907.1_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 9 565 --- --- --- --- RP11-368M16.3 0 broad.mit.edu 37 7 57698565 57698566 + RNA INS - - TGGG TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr7:57698565_57698566insTGGG ENST00000605139.1 - 0 416 CACAGGAGACCTGGGCTGCAGG 0.584 9 15 --- --- --- --- SMARCA2 6595 broad.mit.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG CAG - rs113070757 byFrequency TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr9:2039777_2039779delCAG ENST00000382203.1 + 4 876_878 c.667_669delCAG c.(667-669)del p.Q238del SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 238 Poly-Gln. Missing (in Ref. 1; CAA51407). chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) gcagcagcaacagcagcagcagc 0.635 9 98 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974747 21974747 + Frame_Shift_Del DEL T T - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr9:21974747delT ENST00000304494.5 - 1 350 c.80delA c.(79-81)ggfs p.E27fs CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E27fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000361570.3_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 27 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGCCCGCACCTCCTCTACCCG 0.741 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 15 301 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 7 74 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 10 323 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868214 110868215 + RNA INS - - GT rs3054092 by1000genomes TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr12:110868214_110868215insGT ENST00000550231.1 - 0 97 TCAgtgtgtgcgtgtgtgtgtg 0.490 4 9 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr14:75601711_75601712insA ENST00000303575.4 - 5 590 c.e5-2 TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 8 306 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25321400 25321401 + RNA DEL AA AA - rs74920348 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr15:25321400_25321401delAA ENST00000549804.2 + 0 1109 CAGGTGACACAAAGGACTTAGG 0.510 5 8 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 7 596 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 7 52 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102312241 102312241 + RNA DEL A A - rs59860046 TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr15:102312241delA ENST00000561463.1 + 0 13609 AGTGGCCGGGAAATTTGCTGT 0.592 7 112 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 403 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 10 287 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16908642 16908642 + Frame_Shift_Del DEL T T - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:16908642delT ENST00000524140.2 + 16 3822 c.3404delT c.(3403-3405)gtfs p.V1135fs NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1135 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAGACGGCTGTTTTTGGTACT 0.552 7 1211 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 10 134 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 10 860 --- --- --- --- RP11-410N8.1 0 broad.mit.edu 37 20 31173162 31173164 + RNA DEL TCC TCC - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr20:31173162_31173164delTCC ENST00000457213.1 + 0 162 CCGCGGctcttcctcctcctcct 0.744 2 4 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 7 149 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e732348f-c0aa-41bb-b465-09607386d190 6eadfab7-891c-443f-bf86-e072cb8338d3 g.chrX:48887952delC ENST00000315869.7 - 10 1704 c.1445delG c.(1444-1446)gafs p.G482fs TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 CTGGGCAGGTCCCCCCCCTAC 0.647 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 7 169 --- --- --- ---