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 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 10 417 1.5739e-10 1.66014e-10 1 1 0 SLC7A9 11136 broad.mit.edu 37 19 33334838 33334838 + Missense_Mutation SNP G G A rs121908484 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:33334838G>A ENST00000023064.4 - 10 1188 c.997C>T c.(997-999)Cgg>Tgg p.R333W SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 333 R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) TGACCCTCCCGGCCCGCCACG 0.567000 5 198 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 6 164 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77600066 77600066 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:77600066C>T ENST00000461745.1 + 8 2057 c.1157C>T c.(1156-1158)gCg>gTg p.A386V ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V|ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 386 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CGTTCCGACGCGGGTTACTAC 0.473000 15 278 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 12 191 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 6 309 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138434008 138434008 + Missense_Mutation SNP C C A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:138434008C>A ENST00000310018.2 - 12 1366 c.1084G>T c.(1084-1086)Gcc>Tcc p.A362S ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 362 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTGGGAGGGGCTGTTTTAGAT 0.453000 9 514 1.58986e-06 1.64322e-06 1 1 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 13 188 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103474008 103474008 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:103474008G>A ENST00000428762.1 - 3 608 c.449C>T c.(448-450)gCg>gTg p.A150V RELN_ENST00000343529.5_Missense_Mutation_p.A150V|RELN_ENST00000424685.2_Missense_Mutation_p.A150V NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 150 Reelin. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCTGTGCCCGCAGGTGGAGC 0.473000 13 248 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592698 156592698 + Missense_Mutation SNP C C A rs146865558 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr5:156592698C>A ENST00000302938.4 - 1 577 c.482G>T c.(481-483)cGg>cTg p.R161L NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 161 nucleus p.R161L(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGATCTTCCCGTGTGTCAGA 0.498000 14 587 1.15088e-07 1.20568e-07 1 1 0 OR52M1 119772 broad.mit.edu 37 11 4566917 4566917 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:4566917G>A ENST00000360213.1 + 1 497 c.497G>A c.(496-498)cGc>cAc p.R166H NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGATGATCCGCCTGCGGCTG 0.522000 11 423 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 11 389 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276168 186276168 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:186276168C>T ENST00000445192.2 + 7 1362 c.1317C>T c.(1315-1317)acC>acT p.T439T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 439 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGAAGC 0.657000 7 391 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 7 336 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45234625 45234625 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:45234625C>T ENST00000066544.3 - 6 694 c.601G>A c.(601-603)Gtt>Att p.V201I CDC27_ENST00000446365.2_Missense_Mutation_p.V140I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I|CDC27_ENST00000527547.1_Missense_Mutation_p.V201I NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 201 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.V201I(2) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TCCGTAAGAACTGTCTCAGGC 0.338000 6 233 0 0 1 0 0 COL6A2 0 broad.mit.edu 37 21 47549129 47549129 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr21:47549129C>T ENST00000357838.4 + 28 2563 c.2481C>T c.(2479-2481)ggC>ggT p.G827G COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Silent_p.G827G NM_058174.2 NP_478054.2 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 564 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGCCTGGCGGCGAGCCCCCGG 0.672000 9 494 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 12 315 0 0 1 0 0 FAM86C2P 0 broad.mit.edu 37 11 67564228 67564228 + RNA SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:67564228C>T ENST00000528089.1 - 0 912 GAGGAGCCCGCTGGTGCTCCC 0.627000 5 259 0 0 1 0 0 CENPI 2491 broad.mit.edu 37 X 100357364 100357364 + Missense_Mutation SNP G G T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:100357364G>T ENST00000372927.1 + 3 605 c.328G>T c.(328-330)Gat>Tat p.D110Y CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y|CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 110 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 AGAAGAAATTGATATTCTATT 0.313000 8 388 0.000157383 0.00016051 1 1 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 7 257 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63269191 63269191 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:63269191G>A ENST00000322893.7 - 9 1946 c.1678C>T c.(1678-1680)Cgc>Tgc p.R560C KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C|KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 560 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GCCAAGGCGCGCAGACACCCA 0.512000 13 338 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151082925 151082925 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:151082925C>T ENST00000474524.1 + 20 3049 c.3011C>T c.(3010-3012)gCg>gTg p.A1004V P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A864V NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1004 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGTGACAATGCGGCCAATCGC 0.473000 7 781 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20858856 20858856 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:20858856G>A ENST00000262715.5 - 15 2358 c.2318C>T c.(2317-2319)gCt>gTt p.A773V TEP1_ENST00000556935.1_Missense_Mutation_p.A665V NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 773 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCTTTGGCCAGCCAGAGACAG 0.438000 5 234 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79971738 79971738 + Missense_Mutation SNP T T A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:79971738T>A ENST00000373275.4 - 20 2459 c.2243A>T c.(2242-2244)gAa>gTa p.E748V BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 748 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AGTTCGACATTCTTCCTGTAC 0.299000 15 177 0 0 1 0 0 CYB561 1534 broad.mit.edu 37 17 61513435 61513435 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:61513435G>A ENST00000584031.1 - 3 580 c.281C>T c.(280-282)gCg>gTg p.A94V CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000392976.1_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000360793.3_Missense_Mutation_p.A94V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V P49447 CY561_HUMAN cytochrome b561 94 Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding lung(2)|ovary(1)|prostate(1) 4 READ - Rectum adenocarcinoma(1115;0.0689) GATGACGAGCGCAAAGATGTG 0.612000 5 298 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10102530 10102530 + Missense_Mutation SNP A A G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:10102530A>G ENST00000380861.4 + 19 3048 c.2657A>G c.(2656-2658)aAg>aGg p.K886R WWC3_ENST00000454666.1_Missense_Mutation_p.K886R NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 886 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGCCTCGTGAAGGAGCGGCCC 0.547000 45 367 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 11 313 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593261 1593261 + RNA SNP A A T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr5:1593261A>T ENST00000436493.2 - 0 364 CTCAGGGCACATGCCTGACCA 0.542000 14 182 0 0 1 0 0 MBNL2 10150 broad.mit.edu 37 13 97999092 97999092 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr13:97999092G>A ENST00000345429.6 + 5 1356 c.575G>A c.(574-576)cGg>cAg p.R192Q MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000376673.3_Missense_Mutation_p.R192Q|MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q NM_144778.3 NP_659002.1 Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 192 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) AACTGTGCCCGGGGAGAGACC 0.607000 11 201 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 4 156 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12429760 12429760 + Missense_Mutation SNP G G C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:12429760G>C ENST00000293725.5 - 4 1284 c.1079C>G c.(1078-1080)aCt>aGt p.T360S NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TTTCTCTCCAGTGTGAATTCG 0.433000 6 679 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49717988 49717988 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr12:49717988C>T ENST00000380327.5 + 4 488 c.388C>T c.(388-390)Cct>Tct p.P130S TROAP_ENST00000551245.1_Intron|TROAP_ENST00000257909.3_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000549534.1_3'UTR NM_001100620.1 NP_001094090.1 Q12815 TROAP_HUMAN trophinin associated protein 335 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 ATCTCCCTTTCCTCCAGCAAA 0.522000 12 245 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 4 195 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76332530 76332530 + Silent SNP T T G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr5:76332530T>G ENST00000312916.7 + 4 1048 c.666T>G c.(664-666)ggT>ggG p.G222G NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 222 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) ACAGCACTGGTTTCTATTATG 0.423000 6 298 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 16 483 0 0 1 0 0 HERPUD1 9709 broad.mit.edu 37 16 56973198 56973198 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:56973198G>A ENST00000439977.2 + 5 678 c.481G>A c.(481-483)Ggt>Agt p.G161S HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_3'UTR NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 161 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 TGGTTTCTCCGGTTACACACC 0.493000 T ERG prostate 39 803 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890686 229890686 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:229890686G>A ENST00000392054.3 - 4 748 c.409C>T c.(409-411)Cgg>Tgg p.R137W PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.R139W|PID1_ENST00000409462.1_Missense_Mutation_p.R57W|PID1_ENST00000392055.3_Missense_Mutation_p.R106W NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 139 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TGGAATGGCCGGATTTCCAGG 0.567000 13 250 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 456 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161147009 161147009 + RNA SNP A A G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:161147009A>G ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 CCGAATCAGGATGTTGACCTT 0.438000 8 412 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752318 62752318 + RNA SNP T T C rs139668717 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:62752318T>C ENST00000331425.6 - 0 1117 NR_003952.1 ACATTCTTCATATGTGTAGGG 0.433000 6 304 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000428082.2_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 6 315 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10916473 10916473 + Missense_Mutation SNP C C A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr21:10916473C>A ENST00000298232.7 - 19 1486 c.1119G>T c.(1117-1119)aaG>aaT p.K373N TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Missense_Mutation_p.K391N NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 391 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAACATATCTCTTCTGAAAAG 0.338000 6 401 0.00116845 0.00117608 1 1 0 RPTN 126638 broad.mit.edu 37 1 152128617 152128617 + Missense_Mutation SNP T T C rs12117644 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:152128617T>C ENST00000316073.3 - 3 1022 c.958A>G c.(958-960)Agt>Ggt p.S320G NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 320 Gln-rich. S -> G (in dbSNP:rs12117644). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCGTCTGACTGTAGTGGGAA 0.507000 11 2199 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247473673 247473673 + Missense_Mutation SNP T T C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:247473673T>C ENST00000294753.4 - 6 1201 c.737A>G c.(736-738)tAt>tGt p.Y246C ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 246 KRAB. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GAACTCTCCATAGAAGCCAGT 0.507000 14 281 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940877 22940877 + Missense_Mutation SNP G G T rs74455660 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:22940877G>T ENST00000397104.3 - 5 1560 c.1561C>A c.(1561-1563)Cag>Aag p.Q521K ZNF99_ENST00000596209.1_Missense_Mutation_p.Q612K zinc finger protein 99 p.Q521K(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTGATGTTTTCTA 0.378000 5 373 3.86212e-05 3.96511e-05 1 1 0 DPY19L2P2 0 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:102912190T>G ENST00000312132.4 - 0 2389 TCTGGATAAATATGGAAGCGT 0.343000 6 215 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34923961 34923961 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr21:34923961C>T ENST00000356577.4 + 3 2899 c.2424C>T c.(2422-2424)acC>acT p.T808T SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T808T NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 808 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.T808T(2) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TGTTAGCAACCAGCTCCATGG 0.512000 9 920 0 0 1 0 0 SLC27A3 11000 broad.mit.edu 37 1 153747855 153747855 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:153747855G>A ENST00000271857.2 + 1 1026 c.266G>A c.(265-267)cGc>cAc p.R89H SLC27A3_ENST00000368661.3_Missense_Mutation_p.R8H|SLC27A3_ENST00000484014.1_3'UTR Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 8 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGCGCACGCGCGCTCCCTGG 0.677000 20 329 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 27064659 27064659 + Silent SNP A A T rs115769795 byFrequency TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:27064659A>T ENST00000539517.2 - 2 554 c.237T>A c.(235-237)acT>acA p.T79T NOVA1_ENST00000547619.1_Silent_p.T79T|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000574031.1_Silent_p.T79T|NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000344429.5_Silent_p.T79T NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 79 KH 1. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGGTGGCTCCAGTTTCTTTTT 0.423000 6 464 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 4 91 0 0 1 0 0 ANKZF1 55139 broad.mit.edu 37 2 220096743 220096743 + Missense_Mutation SNP T T C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:220096743T>C ENST00000323348.5 + 3 416 c.242T>C c.(241-243)tTc>tCc p.F81S ANKZF1_ENST00000410034.3_Missense_Mutation_p.F81S|ANKZF1_ENST00000409849.1_Intron NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 81 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACCAGACCTTCCAGAACCAC 0.438000 5 338 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19653400 19653400 + Silent SNP G G A rs148756781 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr21:19653400G>A ENST00000284885.3 - 22 2658 c.2625C>T c.(2623-2625)aaC>aaT p.N875N NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 875 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TGGCAATGTCGTTGTCCTTTC 0.348000 7 606 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433000 8 823 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 10 250 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389530 48389530 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr10:48389530C>T ENST00000224600.4 - 1 1461 c.1348G>A c.(1348-1350)Gcc>Acc p.A450T NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 450 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGGACGGAGGCGTCAGCAAAA 0.617000 5 206 0 0 1 0 0 ZNF551 90233 broad.mit.edu 37 19 58199100 58199100 + Missense_Mutation SNP G G A rs138423649 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:58199100G>A ENST00000282296.5 + 3 1642 c.1457G>A c.(1456-1458)cGc>cAc p.R486H ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCTTTAGCCGCAAATTTATC 0.423000 5 455 0 0 1 0 0 PHF12 57649 broad.mit.edu 37 17 27239855 27239855 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:27239855C>T ENST00000577226.1 - 9 2080 c.1734G>A c.(1732-1734)cgG>cgA p.R578R PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.R578R|PHF12_ENST00000268756.3_Silent_p.R578R Q96QT6 PHF12_HUMAN PHD finger protein 12 578 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) GCCAGCCTTGCCGGTGTGAGA 0.637000 6 328 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11772081 11772081 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:11772081G>A ENST00000381486.2 + 27 4958 c.4658G>A c.(4657-4659)cGt>cAt p.R1553H GREB1_ENST00000396123.1_Missense_Mutation_p.R551H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1553 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) ACCACCGGCCGTCACGAACAT 0.443000 13 282 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16872763 16872763 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:16872763C>T ENST00000355661.3 - 8 681 c.671G>A c.(670-672)cGc>cAc p.R224H PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 224 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding p.R224H(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GCGGCTTATGCGATCCTCAGG 0.483000 5 319 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17190613 17190613 + Missense_Mutation SNP G G C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:17190613G>C ENST00000265970.7 - 1 675 c.676C>G c.(676-678)Cta>Gta p.L226V PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 226 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) TTGTCAAATAGTTTTGCCATG 0.378000 5 181 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 169 0 0 1 0 0 CARD9 64170 broad.mit.edu 37 9 139265516 139265516 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr9:139265516G>A ENST00000371732.5 - 4 569 c.404C>T c.(403-405)gCg>gTg p.A135V CARD9_ENST00000315908.7_Missense_Mutation_p.A135V|CARD9_ENST00000371734.3_Missense_Mutation_p.A135V NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 135 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) GCTCAGCAGCGCGGTCAGGTC 0.612000 11 146 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49964157 49964157 + Splice_Site SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:49964157G>A ENST00000293350.4 + 5 740 c.e5+1 ALDH16A1_ENST00000540132.1_Splice_Site|ALDH16A1_ENST00000433981.2_Splice_Site|ALDH16A1_ENST00000455361.2_Splice_Site NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CTGGCTGTGGGTAAATGATGG 0.557000 10 306 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202073970 202073970 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:202073970C>T ENST00000286186.6 + 9 1535 c.1100C>T c.(1099-1101)tCg>tTg p.S367L CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000272879.5_Missense_Mutation_p.S367L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L|CASP10_ENST00000448480.1_Missense_Mutation_p.S324L NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 367 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GTCTACTCTTCGGATGAGGCC 0.527000 8 482 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033662 30033662 + Missense_Mutation SNP C C G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:30033662C>G ENST00000328224.6 - 2 1797 c.564G>C c.(562-564)gaG>gaC p.E188D NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 188 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TCATTTGGGTCTCAAAGCGTA 0.493000 11 279 0 0 1 0 0 FAM8A1 51439 broad.mit.edu 37 6 17608527 17608527 + Missense_Mutation SNP T T C rs141097358 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr6:17608527T>C ENST00000259963.3 + 5 1254 c.1199T>C c.(1198-1200)aTt>aCt p.I400T NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 400 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GCTTATGACATTGTAGCAGGA 0.398000 5 367 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 5 188 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49932714 49932714 + Missense_Mutation SNP G G A rs144584611 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:49932714G>A ENST00000296474.3 - 14 3184 c.3157C>T c.(3157-3159)Cgg>Tgg p.R1053W MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1053 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GACTCTTTCCGCAGCAGTGGC 0.567000 8 712 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96326634 96326634 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr9:96326634G>A ENST00000277165.6 + 18 3363 c.3169G>A c.(3169-3171)Gag>Aag p.E1057K FAM120A_ENST00000340893.4_Missense_Mutation_p.E1011K|FAM120A_ENST00000333936.5_Missense_Mutation_p.E1085K NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 1057 RNA binding. cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AGTGATGGCCGAGGAGAAGCC 0.537000 7 476 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296431 39296431 + Silent SNP A A G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:39296431A>G ENST00000345847.4 - 1 308 c.309T>C c.(307-309)acT>acC p.T103T NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 99 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GACGGCAGCAAGTGGGCTGGC 0.652000 4 183 0 0 1 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456632 30456632 + Missense_Mutation SNP G G T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:30456632G>T ENST00000478753.2 - 1 870 c.417C>A c.(415-417)ttC>ttA p.F139L SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L Q99611 SPS2_HUMAN selenophosphate synthetase 2 139 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 AGGGGTAAAAGAAGTCCGTGG 0.602000 10 221 0.000442599 0.000448423 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16892284 16892284 + Missense_Mutation SNP G G C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:16892284G>C ENST00000430580.2 - 27 3795 c.2908C>G c.(2908-2910)Ctg>Gtg p.L970V NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 970 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACTGCCTCCAGCAGCTCCCTG 0.493000 16 3413 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79971717 79971717 + Missense_Mutation SNP T T A rs146207659 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:79971717T>A ENST00000373275.4 - 20 2480 c.2264A>T c.(2263-2265)gAc>gTc p.D755V BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 755 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GATTTCTATGTCACCTTTTGC 0.323000 15 201 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46830721 46830721 + Silent SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr6:46830721G>A ENST00000283296.7 - 15 2391 c.2103C>T c.(2101-2103)ggC>ggT p.G701G GPR116_ENST00000456426.2_Silent_p.G559G|GPR116_ENST00000545669.1_Silent_p.G130G|GPR116_ENST00000265417.7_Silent_p.G701G|GPR116_ENST00000362015.4_Silent_p.G701G NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 701 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TGATGGTCCCGCCAATGGGAC 0.537000 6 546 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1418745 1418745 + Missense_Mutation SNP G G A rs140014929 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:1418745G>A ENST00000446702.2 + 17 2779 c.2152G>A c.(2152-2154)Gtc>Atc p.V718I CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I Q9UQ52 CNTN6_HUMAN contactin 6 718 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.V718I(2) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTCTGAACTCGTCATTACGTG 0.373000 14 407 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T T C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:20807460T>C ENST00000601440.1 - 4 1369 c.1223A>G c.(1222-1224)tAc>tGc p.Y408C CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y408C(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTTAGAGGAGTACTTAAAAGC 0.408000 7 547 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3263557 3263557 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr8:3263557C>T ENST00000602557.1 - 16 2816 c.2261G>A c.(2260-2262)cGc>cAc p.R754H CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000520002.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 754 Sushi 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACCTTCACAGCGGGGCACGGT 0.532000 11 170 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41597726 41597726 + Silent SNP C C A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:41597726C>A ENST00000330436.3 + 5 744 c.744C>A c.(742-744)atC>atA p.I248I NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 248 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) AGGACTTCATCGCCAAGAAGG 0.557000 7 327 1.02788e-11 1.09168e-11 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 6 181 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878596 190878596 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr4:190878596G>A ENST00000226798.4 + 6 698 c.476G>A c.(475-477)tGc>tAc p.C159Y FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 159 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.C159Y(1) 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) TTTATTAGATGCAATGAAGCA 0.368000 6 201 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164786914 164786914 + Missense_Mutation SNP C C T rs149498200 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:164786914C>T ENST00000264382.3 - 4 387 c.325G>A c.(325-327)Gtt>Att p.V109I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 109 P-type 1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGATTATCAACGAAGAAGCAC 0.363000 HNSCC(35;0.089) 20 198 0 0 1 0 0 PSMC6 5706 broad.mit.edu 37 14 53194224 53194224 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:53194224C>T ENST00000445930.2 + 14 1107 c.1101C>T c.(1099-1101)ttC>ttT p.F367F PSMC6_ENST00000606149.1_Silent_p.F353F|PSMC6_ENST00000557557.1_3'UTR P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 353 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) CAGGTATGTTCGCAATTCGTG 0.323000 6 173 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 9 1145 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 72 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66392698 66392698 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:66392698G>A ENST00000310137.4 + 2 1490 c.1351G>A c.(1351-1353)Gca>Aca p.A451T RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 451 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGCCTACGCCGCACAAGCCAC 0.617000 8 790 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 9 640 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 8 220 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3844972 3844972 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:3844972G>A ENST00000428216.2 + 6 823 c.695G>A c.(694-696)cGt>cAt p.R232H MAVS_ENST00000416600.2_Missense_Mutation_p.R91H|MAVS_ENST00000358134.6_3'UTR NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 232 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CCCCTGGCCCGTTCCACCCCC 0.622000 6 405 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 8 405 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 6 116 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 8 389 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170029 20170029 + RNA SNP C C T rs144252881 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr15:20170029C>T ENST00000338912.5 - 0 242 CCTGGAACTTCTGTGCATAGC 0.547000 7 578 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 6 178 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382749 152382749 + Missense_Mutation SNP G G A rs3814301 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:152382749G>A ENST00000271835.3 - 3 871 c.809C>T c.(808-810)aCc>aTc p.T270I RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 270 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTGACCGTGGGTCTCAGTCCC 0.612000 8 1087 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50909518 50909518 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:50909518C>T ENST00000440232.2 + 11 1375 c.1322C>T c.(1321-1323)aCg>aTg p.T441M POLD1_ENST00000599857.1_Missense_Mutation_p.T441M|POLD1_ENST00000595904.1_Missense_Mutation_p.T441M NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 441 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TCCAAGCAGACGGGCCGGCGG 0.622000 DNA polymerases (catalytic subunits) 6 383 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39884787 39884787 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr15:39884787C>T ENST00000260356.5 + 17 2716 c.2551C>T c.(2551-2553)Cgc>Tgc p.R851C NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 851 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TGACTCAGACCGCATTGGAGA 0.453000 4 94 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924812 70924812 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:70924812C>T ENST00000603540.1 + 2 854 c.596C>T c.(595-597)tCt>tTt p.S199F ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 199 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAACCAAAATCTGCTGGTGAC 0.448000 5 359 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274214 39274214 + Missense_Mutation SNP G G C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:39274214G>C ENST00000391413.2 - 1 392 c.354C>G c.(352-354)agC>agG p.S118R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 118 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 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) gtctgcagcagctggacacac 0.652000 5 204 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_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) 6 201 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 5 344 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 6 129 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 5 162 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 6 118 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 108512 108512 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:108512G>A ENST00000262316.6 - 18 2537 c.2395C>T c.(2395-2397)Cgg>Tgg p.R799W NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 799 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) CAGCGTTTCCGGTACAGGTCG 0.552000 29 551 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 7 348 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4119186 4119186 + Silent SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:4119186G>A ENST00000404826.2 + 22 3433 c.3294G>A c.(3292-3294)acG>acA p.T1098T SDK1_ENST00000389531.3_Silent_p.T1098T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1098 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACGGGAAAACGTCCATCTCCA 0.572000 7 468 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087258 39087258 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr21:39087258C>T ENST00000400482.3 - 3 791 c.202G>A c.(202-204)Ggc>Agc p.G68S KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 68 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) CTCACGTTGCCGTGATGAACA 0.488000 23 560 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39971399 39971399 + Missense_Mutation SNP A A C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:39971399A>C ENST00000314349.4 + 1 348 c.215A>C c.(214-216)cAc>cCc p.H72P NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 47 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCTTCCGTCCACCCGCCCCTC 0.697000 12 75 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T rs80338963 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr18:48591918C>T ENST00000342988.3 + 9 1619 c.1081C>T c.(1081-1083)Cgc>Tgc p.R361C SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 361 MH2. R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGGAGGAGATCGCTTTTGTTT 0.413000 10 287 0 0 1 0 0 WDR82 80335 broad.mit.edu 37 3 52292632 52292632 + Missense_Mutation SNP C C A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:52292632C>A ENST00000296490.3 - 8 1113 c.832G>T c.(832-834)Gat>Tat p.D278Y NM_025222.3 NP_079498.2 Q6UXN9 WDR82_HUMAN WD repeat domain 82 278 histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) TGTTTACCATCCAACACAGCT 0.448000 31 485 1.88708e-17 2.03224e-17 1 1 0 IFNL3 282617 broad.mit.edu 37 19 39735442 39735442 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:39735442C>T ENST00000413851.2 - 1 204 c.166G>A c.(166-168)Gcc>Acc p.A56T NM_172139.2 NP_742151.2 interferon, lambda 3 GCATCTTTGGCCCTCTTAAAG 0.622000 4 161 0 0 1 0 0 IGHV4-61 0 broad.mit.edu 37 14 107095454 107095454 + RNA SNP A A G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:107095454A>G ENST00000390630.2 - 0 147 AGAGACCCACAGTGAGCCCTG 0.617000 5 154 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083808 17083808 + RNA SNP G G A rs140260478 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:17083808G>A ENST00000455405.2 - 0 780 GCGACCTTGTGCATACTCGGT 0.562000 6 111 0 0 1 0 0 FBXO6 26270 broad.mit.edu 37 1 11728956 11728956 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:11728956C>T ENST00000376753.4 + 2 376 c.241C>T c.(241-243)Cta>Tta p.L81L NM_018438.5 NP_060908.1 Q9NRD1 FBX6_HUMAN F-box protein 6 81 FBA. DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex glycoprotein binding breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 6 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CTTCTACTTCCTACGGAGCCT 0.602000 6 273 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817105 129817105 + RNA SNP A A G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:129817105A>G ENST00000507643.1 + 0 687 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CTGATCCTGAAGGCAAGCTAA 0.527000 9 170 0 0 1 0 0 COQ9 57017 broad.mit.edu 37 16 57486804 57486804 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:57486804C>T ENST00000262507.6 + 3 403 c.334C>T c.(334-336)Ccc>Tcc p.P112S COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 112 ubiquinone biosynthetic process mitochondrion p.P112S(2) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 TGAGTTTGTGCCCGCCCACGG 0.592000 10 380 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 5 171 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 5 307 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 8 197 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132662311 132662311 + Silent SNP G G A rs138991769 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr9:132662311G>A ENST00000420781.1 - 15 1811 c.1593C>T c.(1591-1593)gaC>gaT p.D531D FNBP1_ENST00000443566.2_Silent_p.D168D|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Silent_p.D540D|FNBP1_ENST00000355681.3_Silent_p.D511D Q96RU3 FNBP1_HUMAN formin binding protein 1 540 Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CAAACTCGTCGTCAAAATCCG 0.507000 T MLL AML 6 359 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164466403 164466403 + Nonsense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:164466403G>A ENST00000333129.3 - 3 2253 c.1939C>T c.(1939-1941)Cga>Tga p.R647* FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 647 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 ATTAAAAGTCGTTTCATGAAG 0.443000 22 355 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 7 477 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16946455 16946456 + RNA INS - - GCTCACGCTGCA TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:16946455_16946456insGCTCACGCTGCA ENST00000412962.1 - 0 1063_1064 CAGCTCCTCCTGCTCACGCTGC 0.678 7 100 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44455987 44455988 + Frame_Shift_Ins INS - - C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:44455987_44455988insC ENST00000356836.6 + 7 1776_1777 c.986_987insC c.(985-987)aacfs p.N329fs B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.N329fs|B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.N263fs|B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.N358fs NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 329 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) AAGATTCAAAACACGAAGCTGA 0.465 7 1787 --- --- --- --- WDR78 79819 broad.mit.edu 37 1 67390426 67390426 + Frame_Shift_Del DEL T T - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:67390426delT ENST00000371026.3 - 1 144 c.89delA c.(88-90)agfs p.K30fs WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000431318.1_5'UTR NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 30 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GCACCACCCCTTTTTTTGGCC 0.622 9 635 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 12 919 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 11 152 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 10 263 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 7 498 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 8 379 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 9 250 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687550 74687550 + Frame_Shift_Del DEL T T - rs8469 byFrequency TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:74687550delT ENST00000393972.3 + 5 857 c.654delT c.(652-654)ccfs p.P218fs WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs Q96G27 WBP1_HUMAN WW domain binding protein 1 184 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GTGCCCCCCCTCATCAGGAGG 0.612 10 638 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 7 943 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 9 15 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:42679035_42679036insC ENST00000232978.8 + 13 2027_2028 c.1839_1840insC c.(1837-1842)agccccfs p.SP613fs RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 613 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGAGTGACAGTCCCCCCCCTTC 0.421 10 955 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 7 179 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 13 129 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 9 970 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85611708 85611709 + Frame_Shift_Del DEL CA CA - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr4:85611708_85611709delCA ENST00000322366.6 - 60 9669_9670 c.9262_9263delTG c.(9262-9264)gfs p.W3088fs WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3105 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCCATCTCCCACACACACACA 0.510 8 352 --- --- --- --- HERC5 51191 broad.mit.edu 37 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr4:89381265_89381266insA ENST00000264350.3 + 3 562_563 c.409_410insA c.(409-411)aaafs p.K137fs HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 137 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CATTTTACAAGAAAAAAAAATA 0.272 8 240 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412094 105412096 + In_Frame_Del DEL GAG GAG - rs146939312 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr4:105412094_105412096delGAG ENST00000394767.2 - 2 1314_1316 c.864_866delCTC c.(862-867)tcg>tc p.SS290del AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del|CXXC4_ENST00000466963.1_Intron NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 121 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding p.S120A(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGAGGAGGACGAGGAGGAGGAGG 0.606 7 319 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 8 421 --- --- --- --- BAG6 7917 broad.mit.edu 37 6 31617055 31617055 + Frame_Shift_Del DEL G G - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr6:31617055delG ENST00000404765.2 - 4 633 c.344delC c.(343-345)ctfs p.P115fs BAG6_ENST00000375976.4_Frame_Shift_Del_p.P115fs|BAG6_ENST00000439687.2_Frame_Shift_Del_p.P115fs|BAG6_ENST00000211379.5_Frame_Shift_Del_p.P115fs|BAG6_ENST00000375964.6_Frame_Shift_Del_p.P115fs|BAG6_ENST00000362049.6_Frame_Shift_Del_p.P115fs P46379 BAG6_HUMAN BCL2-associated athanogene 6 115 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding p.P115fs*53(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CCGAGTACCAGGGGGGGATCC 0.592 7 483 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 8 1863 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 9 368 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr6:146350671_146350672insT ENST00000392299.2 + 2 488_489 c.18_19insT c.(16-21)ttttttfs p.FF6fs GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 6 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) GGCTCCTTTTGTTTTTTTTCCC 0.644 7 823 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 8 428 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284925 38284934 + RNA DEL TGTGACTGTG TGTGACTGTG - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:38284925_38284934delTGTGACTGTG ENST00000436911.2 - 0 330 tgagtgtgtctgtgactgtgtgtAATTAAA 0.371 9 141 --- --- --- --- CASD1 64921 broad.mit.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - rs74907120 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:94174999delA ENST00000297273.4 + 12 1906 c.1619delA c.(1618-1620)cafs p.Q540fs NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 540 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CAAATAATCCAAAAAAAAGCA 0.294 7 208 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 gcagcagcaacagcagcagcagc 0.507 7 266 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr8:73480397delA ENST00000523207.1 + 2 1016 c.428delA c.(427-429)cafs p.Q143fs NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 143 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.E146fs*3(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGATATCATCAAAAAAAAGAA 0.448 11 551 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 8 396 --- --- --- --- ANXA13 312 broad.mit.edu 37 8 124707761 124707762 + Frame_Shift_Ins INS - - T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr8:124707761_124707762insT ENST00000262219.6 - 7 641_642 c.574_575insA c.(574-576)cctfs p.P192fs ANXA13_ENST00000419625.1_Frame_Shift_Ins_p.P151fs NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 151 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AGACACCAGGATTTTTTTTAGG 0.411 9 820 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974777 21974780 + Frame_Shift_Del DEL GCCA GCCA - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr9:21974777_21974780delGCCA ENST00000304494.5 - 1 317_320 c.47_50delTGGC c.(46-51)ccfs p.LA16fs CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 16 L -> P (in a biliary tract tumor and a familial melanoma). 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.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(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) CGCGGCCGTGGCCAGCCAGTCAGC 0.755 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 206 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 11 743 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 9 152 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 8 373 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000525196.1_Intron NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 17 702 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 9 331 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13154583 13154583 + RNA DEL G G - rs75373880 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr12:13154583delG ENST00000543321.1 + 0 31 HTR7P1_ENST00000535469.1_RNA TCTGCTGAGCGGGGGCCCCCG 0.731 7 9 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr12:53001991delT ENST00000305748.3 - 9 1646 c.1612delA c.(1612-1614)ccfs p.T538fs RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 538 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TATCTCATGGTTTTTTTGGTG 0.532 7 834 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 7 709 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 7 579 --- --- --- --- HMGB1 3146 broad.mit.edu 37 13 31036851 31036852 + Splice_Site INS - - A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr13:31036851_31036852insA ENST00000405805.1 - 4 1237 c.e4-2 HMGB1_ENST00000399494.1_Splice_Site|HMGB1_ENST00000326004.4_Splice_Site|HMGB1_ENST00000399489.1_Splice_Site|HMGB1_ENST00000339872.4_Splice_Site|HMGB1_ENST00000341423.5_Splice_Site P09429 HMGB1_HUMAN high mobility group box 1 base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) AAGGCCGAACTAAAAAAAAAAT 0.376 9 239 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 16 28 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 8 456 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:23528502_23528503delTC ENST00000262710.1 - 19 4207_4208 c.3880_3881delGA c.(3880-3882)afs p.E1294fs ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1294 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ccgctccctttctctctctctc 0.629 OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 283 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c 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 9 292 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 11 141 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 11 281 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 14 3577 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913786 67913788 + In_Frame_Del DEL AGC AGC - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:67913786_67913788delAGC ENST00000358933.5 + 16 2094_2096 c.1855_1857delAGC c.(1855-1857)del p.S629del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 629 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) cagcagcggtagcagcagcagca 0.616 8 292 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578475 7578475 + Frame_Shift_Del DEL G G - rs137852790 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:7578475delG ENST00000420246.2 - 5 587 c.455delC c.(454-456)cgfs p.P153fs TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 153 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTGCCGGGCGGGGGTGTGGA 0.612 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 314 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c 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 7 497 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 10 1079 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 7 71 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 7 85 --- --- --- --- CCDC130 81576 broad.mit.edu 37 19 13873132 13873134 + In_Frame_Del DEL AGG AGG - rs148655062 byFrequency TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:13873132_13873134delAGG ENST00000586600.1 + 10 1096_1098 c.593_595delAGG c.(592-597)cag>c p.QE198del CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del P13994 CC130_HUMAN coiled-coil domain containing 130 198 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) AAAGCCATCCAGGAGGAGGAGGA 0.586 9 525 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 8 144 --- --- --- --- PLEKHG2 64857 broad.mit.edu 37 19 39908633 39908653 + In_Frame_Del DEL GAGGGGGTGGCCCCCGGCTAC GAGGGGGTGGCCCCCGGCTAC - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:39908633_39908653delGAGGGGGTGGCCCCCGGCTAC ENST00000425673.1 + 9 1296_1316 c.971_991delGAGGGGGTGGCCCCCGGCTAC c.(970-993)gga>g p.GGGGPRLR324del PLEKHG2_ENST00000409797.2_In_Frame_Del_p.GGGGPRLR324del|PLEKHG2_ENST00000378550.1_In_Frame_Del_p.GGGGPRLR324del|PLEKHG2_ENST00000458508.2_In_Frame_Del_p.GGGGPRLR265del|PLEKHG2_ENST00000409794.3_In_Frame_Del_p.GGGGPRLR324del Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 324 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.P286T(1)|p.P328T(1)|p.P269T(1) breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGAGGAGGCGGAGGGGGTGGCCCCCGGCTACGAGGGGGTGA 0.661 8 31 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 7 202 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 12 263 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 26 492 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 11 368 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 7 768 --- --- --- --- AFF2 2334 broad.mit.edu 37 X 147733548 147733548 + Frame_Shift_Del DEL A A - TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:147733548delA ENST00000370460.2 + 2 555 c.76delA c.(76-78)aafs p.K27fs AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 27 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TAGTGCACTTAAAAAAAGGGA 0.378 7 598 --- --- --- ---