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 TXLNB 167838 broad.mit.edu 37 6 139563774 139563774 + Silent SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr6:139563774G>A ENST00000358430.3 - 10 2176 c.1944C>T c.(1942-1944)tgC>tgT p.C648C RP1-225E12.3_ENST00000585874.1_RNA NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 648 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TACTGGGCTCGCATGCAGGCA 0.652000 16 650 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39658808 39658808 + Silent SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr17:39658808G>A ENST00000246635.3 - 6 1108 c.1062C>T c.(1060-1062)tgC>tgT p.C354C KRT13_ENST00000587544.1_Silent_p.C354C|KRT13_ENST00000336861.3_Silent_p.C354C NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 354 Coil 2.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) GGGCATAGCGGCACTCCGTCT 0.607000 6 570 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 12 435 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 5 156 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182812436 182812436 + Missense_Mutation SNP T T G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:182812436T>G ENST00000367549.3 + 3 229 c.119T>G c.(118-120)gTg>gGg p.V40G NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 40 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding p.V40G(8) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AAGGTTCAGGTGGAAGGTTAT 0.333000 10 118 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444115 15444115 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr4:15444115G>A ENST00000295297.4 + 3 842 c.583G>A c.(583-585)Gct>Act p.A195T C1QTNF7_ENST00000444304.2_Missense_Mutation_p.A188T|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A188T NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 188 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 GTTCATCTGTGCTTTCCCAGG 0.438000 48 838 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45312324 45312324 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr22:45312324C>T ENST00000313237.5 - 4 550 c.400G>A c.(400-402)Gcc>Acc p.A134T PHF21B_ENST00000396103.3_Missense_Mutation_p.A134T|PHF21B_ENST00000404079.2_Missense_Mutation_p.A122T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A122T|PHF21B_ENST00000403565.1_5'UTR NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 134 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GCGGGCTCGGCGAGGGCCTGG 0.726000 10 125 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154306722 154306722 + Silent SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:154306722C>T ENST00000368489.3 + 10 828 c.828C>T c.(826-828)ttC>ttT p.F276F ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Silent_p.F243F|ATP8B2_ENST00000341822.2_Silent_p.F262F NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 262 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGTGGTGCTTCGGGCTGGTCA 0.542000 36 770 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr18:14542693C>T ENST00000358970.5 - 1 452 c.453G>A c.(451-453)aaG>aaA p.K151K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 151 p.K151K(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTCTGGGGACCTTACCCCACC 0.592000 5 526 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896231 151896231 + RNA SNP A A G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chrX:151896231A>G ENST00000361201.4 - 0 499 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 GAGTGGCTGGATAGTGTTGGC 0.517000 16 198 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76486445 76486445 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr16:76486445C>T ENST00000307431.8 + 9 1494 c.1109C>T c.(1108-1110)cCc>cTc p.P370L CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P374L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P298L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P322L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 371 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CAATCTATGCCCGTGACTTTT 0.393000 20 357 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510463 169510463 + Missense_Mutation SNP A A G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:169510463A>G ENST00000367796.3 - 13 4081 c.3880T>C c.(3880-3882)Ttc>Ctc p.F1294L F5_ENST00000367797.3_Missense_Mutation_p.F1289L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1289 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTCTGGCTGAAGTCTAGAGAA 0.517000 7 1165 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 25 416 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55562215 55562215 + Missense_Mutation SNP T T G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:55562215T>G ENST00000294383.6 - 50 6016 c.6017A>C c.(6016-6018)tAt>tCt p.Y2006S USP24_ENST00000407756.1_Missense_Mutation_p.Y1846S NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2006 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 AAAGCATTCATACTCCAGGGT 0.323000 7 208 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100466383 100466383 + Silent SNP G G T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr7:100466383G>T ENST00000200457.4 + 4 990 c.630G>T c.(628-630)ggG>ggT p.G210G NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 210 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) AAGTCTGGGGGCCTGGCTATA 0.701000 8 97 5.18039e-06 5.27373e-06 1 1 0 SYNJ2 8871 broad.mit.edu 37 6 158484842 158484842 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr6:158484842C>T ENST00000355585.4 + 9 1222 c.1147C>T c.(1147-1149)Cgg>Tgg p.R383W SYNJ2_ENST00000367121.3_Missense_Mutation_p.R383W|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R383W|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R311W NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 383 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AGGCACTTTGCGGATGAACTG 0.502000 6 524 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87190672 87190672 + Missense_Mutation SNP A A G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr7:87190672A>G ENST00000265724.3 - 9 1151 c.734T>C c.(733-735)tTa>tCa p.L245S ABCB1_ENST00000543898.1_Missense_Mutation_p.L181S NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 245 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TGCATACGCTAAGAGTTCTTT 0.318000 10 185 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683249 100683249 + Missense_Mutation SNP C C A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr7:100683249C>A ENST00000306151.4 + 3 8616 c.8552C>A c.(8551-8553)cCt>cAt p.P2851H NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2851 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2851H(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGTTCATCTCCTACAACTGCT 0.507000 8 1280 0.014758 0.0148898 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 8 432 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31525402 31525402 + Missense_Mutation SNP T T A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chrX:31525402T>A ENST00000357033.4 - 56 8592 c.8386A>T c.(8386-8388)Att>Ttt p.I2796F DMD_ENST00000343523.2_Missense_Mutation_p.I336F|DMD_ENST00000378707.3_Missense_Mutation_p.I336F|DMD_ENST00000359836.1_Missense_Mutation_p.I336F|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.I336F|DMD_ENST00000541735.1_Missense_Mutation_p.I336F|DMD_ENST00000378677.2_Missense_Mutation_p.I2792F NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2796 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCCTACCTAATGTTGAGAGAC 0.408000 17 282 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 8 656 0 0 1 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286041 11286041 + Missense_Mutation SNP A A G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr12:11286041A>G ENST00000539585.1 - 1 1202 c.803T>C c.(802-804)aTa>aCa p.I268T TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 ATAGCTGAATATAATAGCTTG 0.408000 34 528 0 0 1 0 0 CTD-2370N5.3 0 broad.mit.edu 37 17 29645681 29645681 + Missense_Mutation SNP A A G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr17:29645681A>G ENST00000578584.1 - 1 168 c.169T>C c.(169-171)Tgg>Cgg p.W57R NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Silent_p.H117H|EVI2A_ENST00000461237.1_Silent_p.H117H|EVI2A_ENST00000247270.3_Silent_p.H140H|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron p.0?(8)|p.?(3) AAATTTCACCATGACTTTTGC 0.358000 33 501 0 0 1 0 0 TEPP 374739 broad.mit.edu 37 16 58018681 58018681 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr16:58018681G>A ENST00000290871.5 + 4 629 c.592G>A c.(592-594)Ggg>Agg p.G198R TEPP_ENST00000441824.2_Missense_Mutation_p.G198R|TEPP_ENST00000569996.1_3'UTR NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 198 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 GTCCTCGGCCGGGGAGTTCAA 0.682000 4 72 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 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 5 152 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389323 1389323 + Missense_Mutation SNP G G A rs71299249 byFrequency TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr4:1389323G>A ENST00000324803.4 + 1 3984 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 342 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGGAGTGCCCGCCTGCTCACA 0.667000 12 1296 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276216 186276216 + Silent SNP T T C TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:186276216T>C ENST00000445192.2 + 7 1410 c.1365T>C c.(1363-1365)acT>acC p.T455T PRG4_ENST00000367486.3_Silent_p.T412T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T362T|PRG4_ENST00000367483.4_Silent_p.T414T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 455 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 CACCCACCACTCCCAAGGAGC 0.652000 8 405 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111616005 111616005 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr5:111616005C>T ENST00000261486.5 - 3 496 c.220G>A c.(220-222)Gca>Aca p.A74T NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 74 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AGGGTTTTTGCAGGATCCAGC 0.338000 7 781 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120776837 120776837 + Silent SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr2:120776837G>A ENST00000263713.5 + 2 391 c.177G>A c.(175-177)ttG>ttA p.L59L EPB41L5_ENST00000452780.1_Silent_p.L59L|EPB41L5_ENST00000443902.2_Silent_p.L59L|EPB41L5_ENST00000443124.1_Silent_p.L59L|EPB41L5_ENST00000331393.4_Silent_p.L59L NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 59 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 GTGTGGACTTGCCAGTAAGTA 0.443000 52 676 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151107890 151107890 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:151107890G>A ENST00000474524.1 + 36 5508 c.5470G>A c.(5470-5472)Ggc>Agc p.G1824S MED12L_ENST00000273432.4_Missense_Mutation_p.G1684S NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1824 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) CCAGCAGCCCGGCTTTTTCCT 0.502000 32 683 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99440470 99440470 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr8:99440470G>A ENST00000287042.4 + 2 613 c.263G>A c.(262-264)gGc>gAc p.G88D KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 88 voltage-gated potassium channel complex voltage-gated potassium channel activity p.G88D(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TATCACACCGGCAAGCTTCAC 0.542000 6 450 0 0 1 0 0 ZNF100 163227 broad.mit.edu 37 19 21910701 21910701 + Missense_Mutation SNP T T C rs141420280 by1000genomes TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:21910701T>C ENST00000358296.6 - 5 611 c.413A>G c.(412-414)tAt>tGt p.Y138C ZNF100_ENST00000305570.6_Missense_Mutation_p.Y74C NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 GTCATGTCCATATTTTCCATA 0.333000 5 309 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 53 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5693658 5693658 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:5693658G>A ENST00000360614.3 - 16 2600 c.2443C>T c.(2443-2445)Cgc>Tgc p.R815C LONP1_ENST00000593119.1_Missense_Mutation_p.R751C|LONP1_ENST00000540670.2_Missense_Mutation_p.R619C|LONP1_ENST00000585374.1_Missense_Mutation_p.R701C|LONP1_ENST00000590729.1_Missense_Mutation_p.R685C NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 815 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TAGGCTATGCGGGCGCTCTCC 0.622000 16 255 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20588554 20588554 + RNA SNP C C G rs112526901 by1000genomes TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr15:20588554C>G ENST00000428453.1 - 0 4196 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCGTGGAAAGCGGTTGCAGAA 0.473000 9 287 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 562 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100729436 100729436 + Silent SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr8:100729436C>T ENST00000358544.2 + 37 6678 c.6567C>T c.(6565-6567)aaC>aaT p.N2189N VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.N2164N NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2189 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCAGTATAAACGATTTTCTCC 0.353000 15 208 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183904017 183904017 + Silent SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:183904017C>T ENST00000429586.2 + 1 207 c.22C>T c.(22-24)Ctg>Ttg p.L8L ABCF3_ENST00000292808.5_Silent_p.L8L|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 8 ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGCCGAAATCCTGCGGAGCGA 0.652000 16 306 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223489170 223489170 + Silent SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr2:223489170G>A ENST00000281828.6 - 12 1254 c.991C>T c.(991-993)Ctg>Ttg p.L331L FARSB_ENST00000536361.1_Silent_p.L232L NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 331 B5. phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) ATCCTGGTCAGAAGTTTGGCA 0.338000 12 204 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 205983664 205983664 + Nonsense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr2:205983664C>T ENST00000406610.2 + 7 907 c.700C>T c.(700-702)Cga>Tga p.R234* PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R234*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R234*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R234* NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 234 PDZ 1. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) ACTCTTCATCCGAGGCATTGA 0.338000 6 289 0 0 1 0 0 GAREM 64762 broad.mit.edu 37 18 29848632 29848632 + Silent SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr18:29848632C>T ENST00000399218.4 - 6 1885 c.1830G>A c.(1828-1830)ccG>ccA p.P610P GAREM_ENST00000269209.6_Silent_p.P611P NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 GACTTCCAAACGGGGATTTCA 0.493000 21 260 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33068870 33068870 + Silent SNP G G A rs113018466 byFrequency TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr9:33068870G>A ENST00000397149.3 - 4 503 c.453C>T c.(451-453)ggC>ggT p.G151G SMU1_ENST00000536631.1_5'UTR NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 151 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CACTGACTTCGCCAGCTAAGG 0.507000 5 195 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7787976 7787976 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr4:7787976G>A ENST00000420658.1 - 12 1747 c.1475C>T c.(1474-1476)gCc>gTc p.A492V AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V|AFAP1_ENST00000360265.4_Missense_Mutation_p.A492V|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 492 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GCTGGGGTGGGCATAGCCGTT 0.493000 5 495 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123345771 123345771 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:123345771G>A ENST00000360772.3 - 31 5357 c.4979C>T c.(4978-4980)aCg>aTg p.T1660M MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1642M|MYLK_ENST00000354792.5_Missense_Mutation_p.T511M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1711M|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.T1711M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1660M|MYLK-AS1_ENST00000470449.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase 1711 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AAGGCACTGCGTGCAGTCCAG 0.502000 19 166 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44928823 44928823 + Splice_Site SNP G G T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chrX:44928823G>T ENST00000377967.4 + 17 1964 c.e17-1 KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTTCTTTTTAGGGGCTTCACA 0.378000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 8 149 7.48243e-07 7.68649e-07 1 1 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184241 26184241 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr6:26184241G>A ENST00000356530.3 + 1 284 c.218G>A c.(217-219)cGc>cAc p.R73H NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 73 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 ATCTTCGAGCGCATCGCCGGC 0.597000 7 745 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51330383 51330383 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:51330383G>A ENST00000326856.4 - 4 358 c.229C>T c.(229-231)Cgc>Tgc p.R77C KLK15_ENST00000598239.1_Missense_Mutation_p.R78C|KLK15_ENST00000301421.2_Missense_Mutation_p.R78C|KLK15_ENST00000416184.1_Missense_Mutation_p.R78C|KLK15_ENST00000596931.1_Missense_Mutation_p.R77C NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 78 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) TCGCGCTTGCGCAGGTTGTGC 0.632000 8 472 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808452 8808452 + Silent SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:8808452G>A ENST00000324436.3 - 1 720 c.600C>T c.(598-600)caC>caT p.H200H NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 200 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 AGGTGACCCCGTGTCCCGTGT 0.672000 19 271 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130847 153130847 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chrX:153130847G>A ENST00000370060.1 - 21 2845 c.2656C>T c.(2656-2658)Cgg>Tgg p.R886W L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 886 Fibronectin type-III 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.R886W(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTATAGGGCCGCAAGCCACTG 0.612000 6 601 0 0 1 0 0 MSL2 55167 broad.mit.edu 37 3 135913815 135913815 + Splice_Site SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:135913815G>A ENST00000309993.2 - 1 873 c.142_splice c.e1+1 p.C47_splice NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 47 histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 GCGTCTCACCGCAAACACAGC 0.507000 7 740 0 0 1 0 0 PAQR6 79957 broad.mit.edu 37 1 156215369 156215369 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:156215369C>T ENST00000335852.1 - 4 766 c.151G>A c.(151-153)Gca>Aca p.A51T PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T|PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000292291.5_Missense_Mutation_p.A157T|PAQR6_ENST00000360733.2_Missense_Mutation_p.A51T NM_024897.2 NP_079173.2 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 157 integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) GAGTTGAGTGCGGCGGCAGGC 0.687000 5 237 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854341 40854341 + Silent SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr5:40854341C>T ENST00000254691.5 + 3 3106 c.2907C>T c.(2905-2907)tcC>tcT p.S969S CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 969 Pro-rich. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AACCTAAATCCTCTCAGACAA 0.512000 43 1100 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_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) 8 204 0 0 1 0 0 CCDC50 152137 broad.mit.edu 37 3 191098488 191098488 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:191098488G>A ENST00000392455.3 + 7 1175 c.577G>A c.(577-579)Gac>Aac p.D193N CCDC50_ENST00000392456.3_Missense_Mutation_p.D369N NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 193 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) TACCCAGGTGGACATGAGAGC 0.348000 7 138 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140183013 140183013 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr5:140183013C>T ENST00000522353.2 + 1 2231 c.2231C>T c.(2230-2232)gCg>gTg p.A744V PCDHA3_ENST00000532566.2_Missense_Mutation_p.A744V|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTCCAGCGCGGTGGGGAGC 0.637000 23 468 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 9 204 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14552768 14552768 + RNA SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:14552768C>T ENST00000273083.3 - 0 1902 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GTTGTCCAGGCGGATATTGTC 0.612000 16 158 0 0 1 0 0 CSE1L 1434 broad.mit.edu 37 20 47704596 47704596 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr20:47704596C>T ENST00000262982.2 + 17 1897 c.1774C>T c.(1774-1776)Cct>Tct p.P592S CSE1L_ENST00000396192.3_Missense_Mutation_p.P536S|CSE1L_ENST00000542325.1_Missense_Mutation_p.P375S NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 592 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) CCCCTACATCCCTACTCTCAT 0.358000 18 273 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66474575 66474575 + Silent SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr7:66474575C>T ENST00000359626.5 + 4 443 c.279C>T c.(277-279)ttC>ttT p.F93F NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 93 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) ATTAGGGATTCGCAACAGTTC 0.398000 9 308 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175086302 175086302 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:175086302G>A ENST00000239462.4 + 10 2460 c.2347G>A c.(2347-2349)Gcc>Acc p.A783T NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 783 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCAGAAGGGGGCCCAGGAGAG 0.577000 5 382 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023733 31023733 + Missense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr20:31023733G>A ENST00000375687.4 + 13 3642 c.3218G>A c.(3217-3219)cGc>cAc p.R1073H ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068H NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1073 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 TGTGCGGTCCGCCAAAAGATC 0.572000 """F, N, Mis""" """MDS, CMML""" 9 427 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 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 5 182 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34205579 34205579 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr18:34205579C>T ENST00000257209.4 + 10 1185 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W|FHOD3_ENST00000359247.4_Missense_Mutation_p.R355W|FHOD3_ENST00000591635.1_Silent_p.T29T|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 355 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.R355W(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AGGCGAGCACCGGGGCCTGGA 0.697000 11 271 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811117 140811117 + Silent SNP C C T rs62344938 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr4:140811117C>T ENST00000509479.2 - 2 2329 c.1473G>A c.(1471-1473)caG>caA p.Q491Q MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 491 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgttgct 0.547000 6 123 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884148 39884148 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr22:39884148C>T ENST00000341184.6 + 2 1011 c.796C>T c.(796-798)Cgc>Tgc p.R266C NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 266 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) CGAGTACATCCGCCACAAGGT 0.637000 7 430 0 0 1 0 0 FETUB 26998 broad.mit.edu 37 3 186370361 186370361 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:186370361C>T ENST00000265029.3 + 7 1191 c.1090C>T c.(1090-1092)Cgc>Tgc p.R364C FETUB_ENST00000382134.3_Missense_Mutation_p.R299C|FETUB_ENST00000382136.3_Missense_Mutation_p.R327C|FETUB_ENST00000539949.1_Missense_Mutation_p.R216C|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.R364C|RP11-134F2.2_ENST00000428501.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 364 extracellular space cysteine-type endopeptidase inhibitor activity p.R364C(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) AGAAAAAGCACGCACTGCTGA 0.562000 7 340 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882726 228882726 + Silent SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr2:228882726G>A ENST00000392056.3 - 7 2890 c.2844C>T c.(2842-2844)tgC>tgT p.C948C SPHKAP_ENST00000344657.5_Silent_p.C948C NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 948 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGTTGTCAAGGCAAATCGCTG 0.478000 5 531 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149477126 149477126 + RNA SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr7:149477126C>T ENST00000378016.2 + 0 1303 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCAAGAGGGGCGGCAGCAGGC 0.637000 5 74 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 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 7 154 0 0 1 0 0 WDR36 134430 broad.mit.edu 37 5 110459563 110459563 + Missense_Mutation SNP A A G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr5:110459563A>G ENST00000506538.2 + 20 2950 c.2377A>G c.(2377-2379)Aca>Gca p.T793A WDR36_ENST00000513710.2_Missense_Mutation_p.T793A NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 793 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TTTCATTCCAACAATTCCTGG 0.353000 18 318 0 0 1 0 0 CINP 51550 broad.mit.edu 37 14 102815068 102815068 + Missense_Mutation SNP C C T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr14:102815068C>T ENST00000216756.6 - 5 505 c.465G>A c.(463-465)atG>atA p.M155I CINP_ENST00000541568.2_Missense_Mutation_p.C112Y|CINP_ENST00000536961.2_Missense_Mutation_p.M170I NM_032630.2 NP_116019.1 Q9BW66 CINP_HUMAN cyclin-dependent kinase 2 interacting protein 155 cell cycle|cell division|DNA repair|DNA replication nucleus protein binding large_intestine(2)|lung(2) 4 CCTTCCTGTACATCTCCAAGA 0.527000 4 84 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579377 7579377 + Nonsense_Mutation SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr17:7579377G>A ENST00000420246.2 - 4 442 c.310C>T c.(310-312)Cag>Tag p.Q104* TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q104* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 104 Interaction with HIPK1 (By similarity).|Interaction with WWOX. Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; 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.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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) TAGCTGCCCTGGTAGGTTTTC 0.632000 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) 23 307 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58830668 58830668 + Silent SNP C C T rs146362585 by1000genomes TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr15:58830668C>T ENST00000414170.3 + 3 512 c.225C>T c.(223-225)tgC>tgT p.C75C LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000356113.6_Silent_p.C75C|LIPC_ENST00000433326.2_Silent_p.C75C P11150 LIPC_HUMAN lipase, hepatic 75 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity p.C75C(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TACAGGAGTGCGGCTTCAACT 0.473000 7 789 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 9 285 --- --- --- --- SPATA1 100505741 broad.mit.edu 37 1 84988200 84988201 + RNA INS - - T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:84988200_84988201insT ENST00000370638.2 + 0 526 spermatogenesis associated 1 breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1) 10 Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111) GGTAAGTTTTCTTTTTTTTTCT 0.327 7 217 --- --- --- --- CDC14A 8556 broad.mit.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:100889837delC ENST00000370125.2 + 5 857 c.369delC c.(367-369)aafs p.N123fs CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000336454.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000469387.1_3'UTR Q9UNH5 CC14A_HUMAN cell division cycle 14A 123 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) CTGGCTCAAACCCCCCCTATC 0.403 7 483 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 10 43 --- --- --- --- LCE1A 353131 broad.mit.edu 37 1 152799998 152799998 + Frame_Shift_Del DEL C C - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:152799998delC ENST00000335123.2 + 1 50 c.50delC c.(49-51)acfs p.T17fs NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 17 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) cccaagtgcacccccaagtgc 0.622 8 301 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 8 248 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 13 369 --- --- --- --- GPR37L1 9283 broad.mit.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr1:202097525_202097527delCTG ENST00000367282.4 + 2 1393_1395 c.1287_1289delCTG c.(1285-1290)gac>ga p.DC429del NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 429 Cys-rich. integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCTTCCTGGActgctgctgctgc 0.626 9 112 --- --- --- --- LOXL3 84695 broad.mit.edu 37 2 74763923 74763924 + Frame_Shift_Ins INS - - C TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr2:74763923_74763924insC ENST00000264094.3 - 5 895_896 c.824_825insG c.(823-825)gccfs p.A275fs LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000393937.2_Intron NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 275 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity p.A277fs*57(1) endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CCACTGCAGGGCCCCCCCCAGG 0.649 7 404 --- --- --- --- CCDC74B-AS1 0 broad.mit.edu 37 2 130893081 130893081 + RNA DEL A A - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr2:130893081delA ENST00000427638.1 + 0 542 NR_033903.1 actccatctcaaaaaaaaaaa 0.562 3 5 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 8 357 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 12 994 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568272 99568273 + Frame_Shift_Ins INS - - T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:99568272_99568273insT ENST00000331335.5 - 5 2717_2718 c.2247_2248insA c.(2245-2250)aataaafs p.NK749fs CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 749 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TGTTGATTTAGTTTTTTTTGCA 0.406 9 543 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122433231 122433232 + Frame_Shift_Ins INS - - A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr3:122433231_122433232insA ENST00000474629.2 + 12 4221_4222 c.3955_3956insA c.(3955-3957)aaafs p.K1319fs NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1319 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GCAGGAGTGTGAAAAAAAAAAT 0.421 7 205 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 7 535 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 9 272 --- --- --- --- C4orf22 255119 broad.mit.edu 37 4 81791253 81791254 + Frame_Shift_Ins INS - - A rs146690045 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr4:81791253_81791254insA ENST00000358105.3 + 4 489_490 c.440_441insA c.(439-441)gaafs p.E147fs C4orf22_ENST00000508675.1_Frame_Shift_Ins_p.E164fs NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 147 p.G147E(1) NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 TACTTTACTGGAAAAAAAAGAC 0.371 7 441 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 7 551 --- --- --- --- RNF145 153830 broad.mit.edu 37 5 158630642 158630642 + Frame_Shift_Del DEL T T - rs74770414 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr5:158630642delT ENST00000274542.2 - 2 94 c.68delA c.(67-69)agfs p.K26fs RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000424310.2_5'UTR NM_144726.2 NP_653327.1 Q96MT1 RN145_HUMAN ring finger protein 145 0 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) tttttttttcttttttttttt 0.363 12 220 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 9 35 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 7 525 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 8 749 --- --- --- --- CLIC5 53405 broad.mit.edu 37 6 45917054 45917054 + Frame_Shift_Del DEL C C - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr6:45917054delC ENST00000185206.6 - 3 867 c.715delG c.(715-717)acfs p.D239fs CLIC5_ENST00000544153.1_Frame_Shift_Del_p.D80fs|CLIC5_ENST00000339561.6_Frame_Shift_Del_p.D80fs NM_001114086.1 NP_001107558.1 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 239 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 GTCTTCACGTCCCCGTTGAAG 0.537 17 551 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64394097 64394097 + Frame_Shift_Del DEL A A - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr6:64394097delA ENST00000262043.3 + 4 814 c.474delA c.(472-474)acfs p.T158fs PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs Q92576 PHF3_HUMAN PHD finger protein 3 158 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAAGTAACACAAAAAAAGCAT 0.383 7 1037 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 10 406 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 144769847 144769849 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr6:144769847_144769849delCCT ENST00000367545.3 + 16 2014_2016 c.2014_2016delCCT c.(2014-2016)del p.P677del NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 677 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.P672H(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCAGGAACTGCCTCCTCCTCCTC 0.409 8 384 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 11 854 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 10 249 --- --- --- --- SGK223 0 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 17 90 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 7 326 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 7 344 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 7 246 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336474 98336475 + Frame_Shift_Ins INS - - T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr10:98336474_98336475insT ENST00000371142.4 - 2 430_431 c.214_215insA c.(214-216)tatfs p.Y72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) ATGACTGATACTTTTTTTTGAC 0.361 7 471 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 7 489 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 13 1030 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 8 246 --- --- --- --- RELA 5970 broad.mit.edu 37 11 65421971 65421972 + Frame_Shift_Ins INS - - G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr11:65421971_65421972insG ENST00000406246.3 - 11 1794_1795 c.1533_1534insC c.(1531-1536)ccacccfs p.P512fs RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.P509fs NM_001243984.1|NM_001243985.1|NM_021975.3 NP_001230913.1|NP_001230914.1|NP_068810.3 Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 512 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding p.D512fs*35(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 GGAGCTGGGTCGGGGGGCCTCT 0.624 10 265 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 8 206 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 11 536 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102745470 102745473 + RNA DEL CAAA CAAA - rs28360358 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr11:102745470_102745473delCAAA ENST00000532855.1 - 0 199 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TACGTAAaagcaaacaaacaaaca 0.324 8 9 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 9 287 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 8 162 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 11 17 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 11 231 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 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 8 892 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 738 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000539652.1_Intron NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 10 182 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr13:23914687delT ENST00000382298.3 - 10 3916 c.3328delA c.(3328-3330)ttfs p.I1110fs SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1110 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGCTTCAATTTTTTTTGCC 0.383 10 1117 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 9 878 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671804 25671806 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr13:25671804_25671806delGCT ENST00000281589.3 + 1 1505_1507 c.1468_1470delGCT c.(1468-1470)del p.A496del NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 496 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ACGTCctgcagctgctgctgctg 0.532 10 270 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 8 288 --- --- --- --- RP11-85K15.2 0 broad.mit.edu 37 14 35390295 35390296 + RNA INS - - TT rs113610910 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr14:35390295_35390296insTT ENST00000556355.1 - 0 524 CACATATTGCAttttttttttt 0.436 6 7 --- --- --- --- PTPN21 11099 broad.mit.edu 37 14 88945628 88945630 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr14:88945628_88945630delTCC ENST00000556564.1 - 13 2429_2431 c.2145_2147delGGA c.(2143-2148)gac>ga p.ED717del PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 717 Poly-Glu. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GAAGTCCTCGTCCTCCTCCTCCT 0.704 8 197 --- --- --- --- RIN3 79890 broad.mit.edu 37 14 93117957 93117960 + Frame_Shift_Del DEL AAGA AAGA - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr14:93117957_93117960delAAGA ENST00000216487.7 + 6 722_725 c.563_566delAAGA c.(562-567)cafs p.QE188fs RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 188 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) AATCCTCCACAAGAAAGAGGGAAG 0.623 8 485 --- --- --- --- IGHD 0 broad.mit.edu 37 14 106304554 106304555 + RNA DEL CG CG - rs33962628 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr14:106304554_106304555delCG ENST00000390556.2 - 0 1125 CCGGGAAAAACGCGCTTCCGTG 0.574 4 2 --- --- --- --- CCPG1 9236 broad.mit.edu 37 15 55651780 55651781 + Frame_Shift_Del DEL TA TA - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr15:55651780_55651781delTA ENST00000310958.6 - 8 2488_2489 c.2190_2191delTA c.(2188-2193)tagafs p.YR730fs DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 730 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) AAGAAGTGTCTATATATATATT 0.332 8 204 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59186310 59186310 + Frame_Shift_Del DEL T T - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr15:59186310delT ENST00000380516.2 - 11 1547 c.1460delA c.(1459-1461)atfs p.N487fs SLTM_ENST00000536328.1_Frame_Shift_Del_p.N56fs NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 487 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ATCACTCGTATTTTTTTTATC 0.299 7 169 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 7 142 --- --- --- --- AP1G1 164 broad.mit.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr16:71803440delA ENST00000423132.2 - 7 921 c.e7-1 AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000433195.2_Intron O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GCTTGCTTTCAAAAAAAAATA 0.378 8 154 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 7 194 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 7 221 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 7 254 --- --- --- --- GADD45GIP1 90480 broad.mit.edu 37 19 13065273 13065275 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:13065273_13065275delGCT ENST00000316939.1 - 2 439_441 c.416_418delAGC c.(415-420)cgg>c p.QR139del NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 139 Poly-Gln. cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 CAGTTCTCCCGCTGCTGCTGCTG 0.635 8 490 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 8 962 --- --- --- --- CRTC1 23373 broad.mit.edu 37 19 18887993 18887993 + Frame_Shift_Del DEL C C - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:18887993delC ENST00000338797.6 + 15 1779 c.1754delC c.(1753-1755)tcfs p.S585fs CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S569fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 569 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding p.S572fs*6(2) CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 ACAGGAGAGTCCCCCCCCAGC 0.637 7 367 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299147 46299149 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:46299147_46299149delCCT ENST00000221538.3 - 6 2274_2276 c.2132_2134delAGG c.(2131-2136)ggc>g p.EG711del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 711 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GTctcctcgccctcctcctcctc 0.557 30 476 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 10 515 --- --- --- --- PTH2 113091 broad.mit.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:49926531_49926533delCAG ENST00000270631.1 - 1 165_167 c.64_66delCTG c.(64-66)del p.L22del 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) AGGGCACCACcagcagcagcagc 0.690 7 86 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 8 280 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 9 382 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 10 385 --- --- --- --- RP4-697P8.3 0 broad.mit.edu 37 20 10869747 10869748 + RNA INS - - T TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr20:10869747_10869748insT ENST00000448859.1 - 0 1058 RP11-103J8.1_ENST00000605292.1_RNA CTCtttttttattttttttttt 0.436 7 152 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000542987.1_Intron|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 7 290 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 8 157 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 12 450 --- --- --- --- CDC42EP1 11135 broad.mit.edu 37 22 37964409 37964429 + In_Frame_Del DEL CAGCGCCTGCTGCAAACCCCT CAGCGCCTGCTGCAAACCCCT - rs13056859 by1000genomes TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT ENST00000249014.4 + 3 1178_1198 c.758_778delCAGCGCCTGCTGCAAACCCCT c.(757-780)cca>c p.PAPAANPS253del NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 253 8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG]. positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding p.N258_A264delNPSAPAA(3) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC 0.665 16 71 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816887 40816889 + In_Frame_Del DEL TGC TGC - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chr22:40816887_40816889delTGC ENST00000396617.3 - 10 1433_1435 c.843_845delGCA c.(841-846)cac>ca p.QH281del MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 281 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTAGTTGTGGTGCTGCTGCTGCT 0.660 T RBM15 acute megakaryocytic leukemia 7 280 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 8 50 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1463 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ctcctcctcttcctcctcctcct 0.389 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 17 464 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 11 111 --- --- --- --- PLXNA3 55558 broad.mit.edu 37 X 153688564 153688565 + Frame_Shift_Ins INS - - G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8075728-2dc4-4d9b-8343-57b2da7bde0d ac03264a-a295-4e60-bf15-03a7e921c667 g.chrX:153688564_153688565insG ENST00000369682.3 + 2 216_217 c.41_42insG c.(40-42)gggfs p.G14fs NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 14 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.A17fs*39(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTCCTTGCCGTGGGGGGGGCCC 0.683 7 415 --- --- --- ---