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 NFKB1 4790 broad.mit.edu 37 4 103517377 103517377 + Silent SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr4:103517377A>G ENST00000226574.4 + 14 1850 c.1383A>G c.(1381-1383)aaA>aaG p.K461K NFKB1_ENST00000600343.1_Silent_p.K280K|NFKB1_ENST00000505458.1_Silent_p.K460K|NFKB1_ENST00000394820.4_Silent_p.K460K NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 460 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) TCTTTGGGAAAGTTATTGAAA 0.433000 59 225 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44833545 44833545 + Silent SNP A A C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:44833545A>C ENST00000354340.4 - 4 816 c.765T>G c.(763-765)acT>acG p.T255T ZNF112_ENST00000536500.1_Silent_p.T278T|ZNF112_ENST00000337401.4_Silent_p.T261T NM_013380.3 NP_037512.3 zinc finger protein 112 TTCTATACCCAGTACATGGAT 0.433000 116 364 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19305370 19305370 + Nonsense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:19305370G>A ENST00000380432.2 + 6 657 c.624G>A c.(622-624)tgG>tgA p.W208* DENND4C_ENST00000434457.2_Nonsense_Mutation_p.W444*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.W444*|DENND4C_ENST00000307015.9_5'UTR NM_017925.4 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 208 DENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CATTTCAGTGGCAATGCCCAT 0.328000 5 406 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100607857 100607857 + Silent SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr7:100607857C>T ENST00000319509.7 + 5 2004 c.2004C>T c.(2002-2004)aaC>aaT p.N668N RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GGCTCCAGAACGCCAGCCAGG 0.657000 21 113 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138163324 138163324 + Missense_Mutation SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:138163324C>T ENST00000409968.1 + 13 2820 c.2642C>T c.(2641-2643)aCg>aTg p.T881M THSD7B_ENST00000413152.2_Missense_Mutation_p.T850M|THSD7B_ENST00000272643.3_Missense_Mutation_p.T881M|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCCAAGTTTACGCCCTGCTCC 0.502000 25 76 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871058 170871058 + Silent SNP G G A rs113440919 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:170871058G>A ENST00000392092.2 + 3 513 c.234G>A c.(232-234)caG>caA p.Q78Q TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 78 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 5 92 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578208 7578208 + Missense_Mutation SNP T T C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:7578208T>C ENST00000420246.2 - 6 773 c.641A>G c.(640-642)cAt>cGt p.H214R TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 214 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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) CACCACACTATGTCGAAAAGT 0.542000 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) 52 72 0 0 1 0 0 REXO4 57109 broad.mit.edu 37 9 136282883 136282883 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:136282883G>A ENST00000371942.3 - 1 281 c.82C>T c.(82-84)Cgg>Tgg p.R28W ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.R28W|REXO4_ENST00000478037.1_5'UTR NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 28 nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) TTTTTCTTCCGAGTGAGCGTC 0.612000 7 695 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263666 263666 + Silent SNP C C T rs111388956 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:263666C>T ENST00000360127.6 + 2 1048 c.1032C>T c.(1030-1032)ggC>ggT p.G344G C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 374 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. p.G344G(2) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCTCAAGGGCTTCCACCCCG 0.687000 10 224 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183129 39183129 + Silent SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:39183129A>G ENST00000361883.5 - 1 325 c.279T>C c.(277-279)acT>acC p.T93T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 93 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) TGCCACAGCCAGTTCCGCAGG 0.637000 4 141 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 6 121 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261778 39261778 + Silent SNP A A G rs143952367 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:39261778A>G ENST00000391415.1 + 1 195 c.138A>G c.(136-138)gtA>gtG p.V46V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 46 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 GCTGTTGTGTATCCAGCTGCT 0.652000 12 107 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3917724 3917724 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:3917724G>A ENST00000381638.2 - 50 8355 c.8231C>T c.(8230-8232)gCc>gTc p.A2744V NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2744 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GCTGGACATGGCTAACTCGTC 0.483000 6 380 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 4 102 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 5 136 0 0 1 0 0 FAM86HP 0 broad.mit.edu 37 3 129821632 129821632 + RNA SNP C C T rs115468595 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:129821632C>T ENST00000500074.2 - 0 513 ACACCTGGCACGTCTCTGGGT 0.662000 6 354 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 5 161 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168315909 168315909 + Silent SNP C C A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:168315909C>A ENST00000366806.2 + 18 2482 c.2340C>A c.(2338-2340)gcC>gcA p.A780A MLLT4_ENST00000351017.4_Silent_p.A787A|MLLT4_ENST00000447894.2_Silent_p.A780A|MLLT4_ENST00000400822.3_Silent_p.A779A|MLLT4_ENST00000392112.1_Silent_p.A764A|MLLT4_ENST00000392108.3_Silent_p.A780A|MLLT4_ENST00000344191.4_Silent_p.A780A P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 780 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GAGTCAATGCCGCCCTGACCA 0.537000 T MLL AL 4 223 0.150653 0.150653 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 8 107 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 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 9 584 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149854968 149854968 + Missense_Mutation SNP T T A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:149854968T>A ENST00000435030.1 + 19 2523 c.2155T>A c.(2155-2157)Tcc>Acc p.S719T KIF5C_ENST00000414838.2_Missense_Mutation_p.S624T|KIF5C_ENST00000397413.1_Missense_Mutation_p.S487T|KIF5C_ENST00000464066.1_3'UTR O60282 KIF5C_HUMAN kinesin family member 5C 719 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) GAAGCAGCTGTCCAGACTCCG 0.572000 5 22 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237794804 237794804 + Missense_Mutation SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:237794804A>G ENST00000366574.2 + 42 6835 c.6518A>G c.(6517-6519)gAg>gGg p.E2173G RYR2_ENST00000360064.6_Missense_Mutation_p.E2171G|RYR2_ENST00000542537.1_Missense_Mutation_p.E2157G NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2173 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACTGTGATGGAGGTCATGGTG 0.433000 4 149 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575380 12575380 + Silent SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:12575380C>T ENST00000397732.3 - 4 1527 c.1356G>A c.(1354-1356)caG>caA p.Q452Q ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 CTTTACCACACTGTTTACATT 0.403000 6 437 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27517278 27517278 + Missense_Mutation SNP G G A rs140459536 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr16:27517278G>A ENST00000356183.4 - 10 1727 c.1712C>T c.(1711-1713)gCg>gTg p.A571V GTF3C1_ENST00000561623.1_Missense_Mutation_p.A571V NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 571 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GTTGCTGTCCGCACAGTGGGA 0.567000 5 458 0 0 1 0 0 TMED9 54732 broad.mit.edu 37 5 177022351 177022351 + Silent SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr5:177022351C>T ENST00000332598.6 + 5 699 c.642C>T c.(640-642)ctC>ctT p.L214L NM_017510.4 NP_059980.2 Q9BVK6 TMED9_HUMAN transmembrane emp24 protein transport domain containing 9 214 transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTCATCCTCGTGGCCATCG 0.592000 92 360 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468701 35468701 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr21:35468701G>A ENST00000381151.3 + 2 1716 c.1204G>A c.(1204-1206)Gca>Aca p.A402T MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 402 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CCGCAAGAGCGCAAGCTCCCG 0.478000 5 210 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785511 1785511 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:1785511G>A ENST00000539485.1 - 26 3613 c.3380C>T c.(3379-3381)gCg>gTg p.A1127V ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1117V|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1080V O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1117 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACCACGACCGCAAAGGACTG 0.637000 4 133 0 0 1 0 0 LUM 4060 broad.mit.edu 37 12 91502249 91502249 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr12:91502249G>A ENST00000266718.4 - 2 962 c.508C>T c.(508-510)Cgg>Tgg p.R170W LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 170 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent p.R170R(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TCTTTCAGCCGATTGTGCTGG 0.443000 103 179 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 5 146 0 0 1 0 0 ZRSR2 8233 broad.mit.edu 37 X 15827397 15827397 + Silent SNP T T C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chrX:15827397T>C ENST00000307771.7 + 7 537 c.513T>C c.(511-513)aaT>aaC p.N171N NM_005089.3 NP_005080.1 Q15696 U2AFM_HUMAN zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 171 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2) 48 Hepatocellular(33;0.183) ATCGAGCTAATTGTCCCTTCT 0.383000 """F, S, Mis""" """MDS, CLL""" 4 214 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R 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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 80 145 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86898803 86898803 + Missense_Mutation SNP T T C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr4:86898803T>C ENST00000395184.1 + 8 1353 c.887T>C c.(886-888)aTc>aCc p.I296T ARHGAP24_ENST00000395183.2_Missense_Mutation_p.I201T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.I203T NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 296 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GGTCCTAATATCCTGCGCCCC 0.398000 56 209 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 270 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61304193 61304193 + Silent SNP G G T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:61304193G>T ENST00000402291.1 + 6 811 c.570G>T c.(568-570)gtG>gtT p.V190V KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Silent_p.V190V|KIAA1841_ENST00000295031.5_Silent_p.V190V|KIAA1841_ENST00000453873.1_Silent_p.V190V NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 190 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) GGGAAGAGGTGGACATTTCAG 0.378000 23 651 1.77063e-15 1.91228e-15 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62295522 62295522 + Missense_Mutation SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr11:62295522C>T ENST00000378024.4 - 5 6641 c.6367G>A c.(6367-6369)Gac>Aac p.D2123N AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2123 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AAGTGTAAGTCCACATCAGGC 0.522000 8 1122 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098910 11098910 + RNA SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr21:11098910G>A ENST00000470054.1 - 0 15 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcagctcagcgggagatacca 0.587000 3 43 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902620 40902620 + Missense_Mutation SNP G G C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:40902620G>C ENST00000324001.7 - 7 1909 c.1639C>G c.(1639-1641)Cag>Gag p.Q547E PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 547 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.E545_P549delEVQLP(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCGGCAGCTGTACCTCTGGA 0.587000 6 790 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35090660 35090660 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:35090660G>A ENST00000378617.3 - 8 3051 c.2657C>T c.(2656-2658)aCt>aTt p.T886I PIGO_ENST00000341666.3_Missense_Mutation_p.T886I|PIGO_ENST00000298004.5_Missense_Mutation_p.T469I|PIGO_ENST00000361778.2_Missense_Mutation_p.T469I NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 886 PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCATGGCACAGTAAAAGGACC 0.502000 8 808 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382520 152382520 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:152382520G>A ENST00000271835.3 - 3 1100 c.1038C>T c.(1036-1038)caC>caT p.H346H RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 346 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTATCTGAGTGTGTCCTCCTG 0.597000 7 696 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 9 128 6.72482e-11 7.20517e-11 1 1 0 FAM91A1 157769 broad.mit.edu 37 8 124787436 124787436 + Missense_Mutation SNP G G C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr8:124787436G>C ENST00000334705.7 + 3 453 c.207G>C c.(205-207)aaG>aaC p.K69N FAM91A1_ENST00000521166.1_Missense_Mutation_p.K69N NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 69 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) AACTGCTAAAGTACAGCCGAG 0.373000 6 214 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6225029 6225029 + Missense_Mutation SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:6225029A>G ENST00000264870.3 - 7 1128 c.863T>C c.(862-864)gTc>gCc p.V288A NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 288 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CGATGGGGGGACGCCATAGGC 0.507000 104 241 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43237088 43237088 + Missense_Mutation SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:43237088C>T ENST00000327495.5 - 3 741 c.557G>A c.(556-558)aGc>aAc p.S186N PSG3_ENST00000595140.1_Missense_Mutation_p.S186N NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 186 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CATAGGGAGGCTCTGACCATT 0.488000 245 848 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389752 48389752 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr10:48389752G>A ENST00000224600.4 - 1 1239 c.1126C>T c.(1126-1128)Ctg>Ttg p.L376L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 376 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GCAGCCTGCAGGCCGGCATTG 0.652000 52 186 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6043387 6043387 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr7:6043387G>A ENST00000265849.7 - 4 392 c.287C>T c.(286-288)gCc>gTc p.A96V PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 96 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AGTTAGGTCGGCAAACTCTTG 0.403000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 5 255 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745555 77745555 + Silent SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:77745555A>G ENST00000409088.3 - 3 1854 c.1440T>C c.(1438-1440)ccT>ccC p.P480P LRRTM4_ENST00000409282.1_Silent_p.P481P|LRRTM4_ENST00000409093.1_Silent_p.P480P|LRRTM4_ENST00000409911.1_Silent_p.P481P|LRRTM4_ENST00000409884.1_Silent_p.P480P NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 480 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) ACTCCTGTAAAGGGGAATTCA 0.473000 27 101 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcaacagcagcagcagc 0.502000 6 208 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276366 186276366 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:186276366G>A ENST00000445192.2 + 7 1560 c.1515G>A c.(1513-1515)gaG>gaA p.E505E PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367485.4_Silent_p.E412E|PRG4_ENST00000367486.3_Silent_p.E462E|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 505 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 CTCCCAAGGAGCCTGCACCCA 0.647000 6 522 0 0 1 0 0 NOP9 161424 broad.mit.edu 37 14 24771231 24771231 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr14:24771231G>A ENST00000267425.3 + 4 962 c.869G>A c.(868-870)cGc>cAc p.R290H NOP9_ENST00000396802.3_Missense_Mutation_p.R290H NM_174913.1 NP_777573.1 NOP9 nucleolar protein GTTTTACACCGCAAACTTCCC 0.488000 6 712 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 11 380 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400841 195400841 + RNA SNP C C A rs7615369 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:195400841C>A ENST00000445430.1 + 0 1437 CTGAGCATCGCAGAGTCGTGC 0.552000 5 134 6.40141e-05 6.59687e-05 1 1 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 8 853 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644684 20644684 + RNA SNP G G C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr15:20644684G>C ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACAGGGAAGGGAGACGGCCAC 0.632000 6 17 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38202438 38202438 + Missense_Mutation SNP G G T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:38202438G>T ENST00000407257.1 + 4 1392 c.1245G>T c.(1243-1245)aaG>aaT p.K415N RMDN2_ENST00000234195.3_Missense_Mutation_p.K415N|RMDN2_ENST00000417700.2_Missense_Mutation_p.K92N|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Missense_Mutation_p.K237N|RMDN2_ENST00000354545.2_Missense_Mutation_p.K237N regulator of microtubule dynamics 2 p.K415N(1) CACAAGAAAAGAAACATTATG 0.323000 5 283 0.00198382 0.00201365 1 1 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 4 236 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83428187 83428187 + Missense_Mutation SNP A A T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr15:83428187A>T ENST00000334574.8 - 13 2344 c.2163T>A c.(2161-2163)ttT>ttA p.F721L FSD2_ENST00000541889.1_Missense_Mutation_p.F676L A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 721 B30.2/SPRY. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 AGGGATGCACAAATTCGTGAA 0.353000 24 69 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820973 106820973 + Splice_Site SNP A A T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr12:106820973A>T ENST00000228347.4 + 13 1323 c.e13-1 POLR3B_ENST00000539066.1_Splice_Site|POLR3B_ENST00000549195.1_Splice_Site NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTTTAGCTTTTATCT 0.269000 6 40 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37382282 37382282 + Missense_Mutation SNP C C T rs146510671 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr7:37382282C>T ENST00000310758.4 - 2 660 c.13G>A c.(13-15)Gcg>Acg p.A5T ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 5 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.A5T(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 ACGATGTCCGCGGGTGGCGGC 0.502000 151 408 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 13 322 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20019852 20019852 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr14:20019852G>A ENST00000551509.1 - 1 420 c.369C>T c.(367-369)taC>taT p.Y123Y NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 123 endometrium(4)|kidney(1)|lung(4) 9 CGCTGTCGTCGTAGTCTCCCC 0.597000 122 788 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2617923 2617923 + Silent SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr7:2617923C>T ENST00000402050.2 + 7 697 c.513C>T c.(511-513)ctC>ctT p.L171L IQCE_ENST00000438376.2_Silent_p.L155L|IQCE_ENST00000404984.1_Silent_p.L120L|IQCE_ENST00000325979.7_Silent_p.L106L NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 171 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GAACGAAGCTCCGGCGCCTGG 0.612000 64 200 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 4 126 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86196283 86196283 + Silent SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:86196283A>G ENST00000370571.2 - 60 5457 c.5091T>C c.(5089-5091)caT>caC p.H1697H COL24A1_ENST00000436319.1_Silent_p.H1676H NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1697 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CAGTTTTGAGATGAGGAAGTT 0.393000 68 183 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49943305 49943305 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr12:49943305G>A ENST00000257981.6 + 9 1810 c.1550G>A c.(1549-1551)cGc>cAc p.R517H NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 517 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TACCACAGCCGCACGCGCGAC 0.637000 50 84 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 4 57 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 7 161 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 8 846 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321490 52321490 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr8:52321490G>A ENST00000356297.4 - 17 2794 c.2694C>T c.(2692-2694)aaC>aaT p.N898N PXDNL_ENST00000543296.1_Silent_p.N898N NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 898 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCCCGTAAACGTTGGAGCCAT 0.622000 74 195 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 9 97 0 0 1 0 0 CD72 971 broad.mit.edu 37 9 35612958 35612958 + Nonsense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:35612958G>A ENST00000396757.1 - 7 885 c.721C>T c.(721-723)Cag>Tag p.Q241* CD72_ENST00000259633.4_Nonsense_Mutation_p.Q241*|CD72_ENST00000490239.1_5'UTR P21854 CD72_HUMAN CD72 molecule 241 C-type lectin. axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAGCTTTTCTGATGCATTATC 0.423000 261 7718 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295516 62295516 + Missense_Mutation SNP G G T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr11:62295516G>T ENST00000378024.4 - 5 6647 c.6373C>A c.(6373-6375)Cac>Aac p.H2125N AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2125 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCTTTCAAGTGTAAGTCCACA 0.522000 8 1104 0.00116845 0.001195 1 1 0 CYP2D6 1565 broad.mit.edu 37 22 42523567 42523567 + Missense_Mutation SNP T T C rs61736517 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr22:42523567T>C ENST00000360608.5 - 7 1169 c.1055A>G c.(1054-1056)cAc>cGc p.H352R CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 352 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTAGGGCATGTGAGCCTGGTC 0.592000 6 177 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 7 187 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) 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 CATGTCCCTCGCCCTTTCGGT 0.463000 4 153 0 0 1 0 0 CD72 971 broad.mit.edu 37 9 35612889 35612889 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:35612889G>A ENST00000396757.1 - 7 954 c.790C>T c.(790-792)Ctg>Ttg p.L264L CD72_ENST00000259633.4_Silent_p.L264L|CD72_ENST00000490239.1_5'UTR P21854 CD72_HUMAN CD72 molecule 264 C-type lectin. axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTGGAAGACAGAGTTTCACAT 0.418000 265 8812 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382519 152382519 + Missense_Mutation SNP T T C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:152382519T>C ENST00000271835.3 - 3 1101 c.1039A>G c.(1039-1041)Act>Gct p.T347A RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 347 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTATCTGAGTGTGTCCTCCT 0.592000 6 697 0 0 1 0 0 MPC2 25874 broad.mit.edu 37 1 167893745 167893745 + Missense_Mutation SNP A A C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:167893745A>C ENST00000367846.4 - 2 338 c.140T>G c.(139-141)aTt>aGt p.I47S MPC2_ENST00000271373.4_Missense_Mutation_p.I47S NM_015415.3 NP_056230.1 mitochondrial pyruvate carrier 2 CCATTTCATAATTGGAGCCCA 0.308000 20 78 0 0 1 0 0 SLC35B3 51000 broad.mit.edu 37 6 8430252 8430252 + Missense_Mutation SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:8430252C>T ENST00000379660.4 - 3 591 c.142G>A c.(142-144)Gtg>Atg p.V48M SLC35B3_ENST00000426876.1_Missense_Mutation_p.V114M|SLC35B3_ENST00000339306.5_Missense_Mutation_p.V48M NM_001142540.1|NM_001142541.1|NM_015948.3 NP_001136012.1|NP_001136013.1|NP_057032.2 Q9H1N7 S35B3_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 48 transmembrane transport Golgi membrane|integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1) 15 Ovarian(93;0.0569) TTGGATGGCACAGTGATAGAA 0.378000 89 166 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25783764 25783764 + Missense_Mutation SNP C C T rs79564666 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:25783764C>T ENST00000319524.6 + 1 95 c.95C>T c.(94-96)gCc>gTc p.A32V KSR1_ENST00000509603.2_Missense_Mutation_p.A32V Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 30 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGCGCAGGGGCCGCGGCCAGC 0.736000 4 77 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 6 288 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195391062 195391062 + RNA SNP C C G rs2688562 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:195391062C>G ENST00000445430.1 + 0 588 GCAGGCCCATCGGTGCTGCTG 0.537000 5 300 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 11 181 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50365046 50365046 + Silent SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:50365046G>A ENST00000322344.3 - 14 1390 c.1281C>T c.(1279-1281)gaC>gaT p.D427D PNKP_ENST00000600573.1_Silent_p.D396D|PNKP_ENST00000596014.1_Silent_p.D427D|PNKP_ENST00000600910.1_Intron NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 427 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GGCTCGCGGCGTCTGGGTTTG 0.687000 Other BER factors 6 14 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 167 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109792765 109792765 + Silent SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:109792765C>T ENST00000271332.3 + 1 125 c.64C>T c.(64-66)Ctg>Ttg p.L22L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 22 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) gctgctgttgctgctgctgct 0.746000 4 116 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24886612 24886612 + Missense_Mutation SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr14:24886612A>G ENST00000382554.3 + 9 5975 c.5657A>G c.(5656-5658)aAg>aGg p.K1886R NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1886 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GCCTTTGCCAAGAGTGGCACC 0.637000 7 28 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53572263 53572263 + Silent SNP A A C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:53572263A>C ENST00000601421.1 - 3 2292 c.1416T>G c.(1414-1416)ccT>ccG p.P472P ZNF160_ENST00000418871.1_Silent_p.P508P|ZNF160_ENST00000429604.1_Silent_p.P508P|ZNF160_ENST00000599056.1_Silent_p.P508P Q9HCG1 ZN160_HUMAN zinc finger protein 160 508 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TACACTTGTAAGGTTTCTCTC 0.383000 100 296 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 9 330 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50765572 50765572 + Missense_Mutation SNP T T G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:50765572T>G ENST00000404971.1 - 11 3421 c.2082A>C c.(2080-2082)aaA>aaC p.K694N NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.K646N|NRXN1_ENST00000406316.2_Missense_Mutation_p.K654N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K646N|NRXN1_ENST00000401669.2_Missense_Mutation_p.K654N|NRXN1_ENST00000406859.3_Missense_Mutation_p.K654N NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 654 EGF-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCCGGATATCTTTGCTTTGGC 0.498000 291 1041 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65826742 65826742 + Missense_Mutation SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr11:65826742C>T ENST00000528302.1 + 10 1256 c.1202C>T c.(1201-1203)gCc>gTc p.A401V SF3B2_ENST00000322535.6_Missense_Mutation_p.A418V Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 418 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 AACTCTGCAGCCCCCAAGAAG 0.532000 26 95 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38830535 38830535 + Missense_Mutation SNP T T A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr4:38830535T>A ENST00000436693.2 - 2 679 c.560A>T c.(559-561)gAg>gTg p.E187V TLR6_ENST00000381950.1_Missense_Mutation_p.E187V NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 187 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACTTTCTGTCTCATTTTCTTT 0.318000 4 166 0 0 1 0 0 FAM91A1 157769 broad.mit.edu 37 8 124787493 124787493 + Silent SNP A A G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr8:124787493A>G ENST00000334705.7 + 3 510 c.264A>G c.(262-264)aaA>aaG p.K88K FAM91A1_ENST00000521166.1_Silent_p.K88K NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 88 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TTATGGTGAAAGGCTTGAGGA 0.438000 6 289 0 0 1 0 0 C19orf35 374872 broad.mit.edu 37 19 2278825 2278825 + Missense_Mutation SNP A A T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:2278825A>T ENST00000342063.3 - 3 463 c.370T>A c.(370-372)Tcc>Acc p.S124T NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 124 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGCGGAGGGAGAGGCCCAGT 0.687000 6 28 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48714160 48714160 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr15:48714160G>A ENST00000316623.5 - 61 8014 c.7559C>T c.(7558-7560)aCg>aTg p.T2520M NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2520 EGF-like 43; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AATGCAGGACGTATGGTGTTG 0.433000 48 159 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 8 1059 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371421 240371421 + Silent SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:240371421C>T ENST00000319653.9 + 5 3539 c.3309C>T c.(3307-3309)ccC>ccT p.P1103P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1103 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1246P(2) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCTACCCGGAGTGGGCA 0.736000 4 116 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20618553 20618553 + Missense_Mutation SNP G G A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr4:20618553G>A ENST00000504154.1 + 35 4120 c.3868G>A c.(3868-3870)Gtg>Atg p.V1290M SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303M|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286M|SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282M NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1290 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GAAGAGTAACGTGGCATCTCT 0.562000 55 168 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274360 39274360 + Missense_Mutation SNP A A T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:39274360A>T ENST00000391413.2 - 1 246 c.208T>A c.(208-210)Tgc>Agc p.C70S NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 70 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CTGGAGATGCAGCATCTGGGG 0.667000 5 335 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 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 7 175 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42851860 42851860 + Splice_Site SNP T T C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:42851860T>C ENST00000200557.6 + 13 1247 c.1077_splice c.e13-1 p.Y360_splice ADAM11_ENST00000535346.1_Splice_Site_p.Y160_splice NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 360 Peptidase M12B. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) CCACCCCCAGTACGGCAACAT 0.632000 26 83 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385585 33385585 + Missense_Mutation SNP C C A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:33385585C>A ENST00000541274.1 - 5 859 c.410G>T c.(409-411)gGg>gTg p.G137V AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CACCCCCCACCCCTCAACACA 0.602000 6 312 5.4927e-09 5.79309e-09 1 1 0 TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 7 866 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 7 437 --- --- --- --- RNF115 27246 broad.mit.edu 37 1 145682086 145682086 + Frame_Shift_Del DEL T T - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:145682086delT ENST00000369291.4 + 5 696 c.492delT c.(490-492)ccfs p.P164fs NM_014455.2 NP_055270.1 Q9Y4L5 RN115_HUMAN ring finger protein 115 164 protein autoubiquitination cytosol protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 CTCCACACCCTTTTTCCTGGT 0.363 7 672 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 14 279 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 10 419 --- --- --- --- SMYD3 64754 broad.mit.edu 37 1 246078893 246078893 + Frame_Shift_Del DEL T T - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr1:246078893delT ENST00000490107.1 - 8 791 c.575delA c.(574-576)agfs p.K192fs SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Frame_Shift_Del_p.K192fs|SMYD3_ENST00000388985.4_Frame_Shift_Del_p.K251fs NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 251 SET. cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) CCTCAGCTGCTTCCGGCGCTC 0.527 104 342 --- --- --- --- MRPS5 64969 broad.mit.edu 37 2 95775728 95775728 + Frame_Shift_Del DEL T T - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:95775728delT ENST00000272418.2 - 4 544 c.336delA c.(334-336)aafs p.K112fs NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 112 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TGCCTCTTCCTTTTTTTGCTC 0.383 7 618 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109380485 109380487 + In_Frame_Del DEL GAT GAT - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:109380485_109380487delGAT ENST00000283195.6 + 20 3616_3618 c.3490_3492delGAT c.(3490-3492)del p.D1168del NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1168 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGCCCATGGGGATGATGATGATG 0.424 7 567 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 25 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 9 346 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45636543 45636545 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:45636543_45636545delCAG ENST00000273317.4 + 1 193_195 c.172_174delCAG c.(172-174)del p.Q63del LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 63 Mediates nuclear export. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AATCCACCTCCAGCAGCAGCAGC 0.626 7 163 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 240 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877786 150877786 + Frame_Shift_Del DEL C C - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:150877786delC ENST00000474524.1 + 7 1043 c.1005delC c.(1003-1005)ggfs p.G335fs MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 335 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) CCAGCCCTGGCCCCCCCGGCC 0.582 7 672 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) 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) GCAGCAGACCCAGCAGCAGCAGC 0.527 13 351 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr4:3430399delA ENST00000336727.3 + 16 4430 c.3526delA c.(3526-3528)aafs p.K1178fs RGS12_ENST00000538395.1_Intron|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000344733.5_Frame_Shift_Del_p.K1178fs NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1178 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAAGATTGGGAAAAAAAAATA 0.328 8 340 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 12 476 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129924994 129924995 + Frame_Shift_Ins INS - - T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr4:129924994_129924995insT ENST00000281142.5 - 6 830_831 c.327_328insA c.(325-330)aatggafs p.NG109fs SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs|SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 109 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 AAGGCCTCCAATTTTTTTTCAA 0.381 7 390 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 8 852 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327907 16327909 + In_Frame_Del DEL TGA TGA - rs59310777 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:16327907_16327909delTGA ENST00000244769.4 - 8 1569_1571 c.633_635delTCA c.(631-636)cag>ca p.HQ211del ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 211 Poly-Gln. H -> HQ (in Ref. 1; CAA55793). cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.H209_H211delHQH(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ctgctgctgctgatgctgatgct 0.670 13 61 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 7 295 --- --- --- --- MDC1 9656 broad.mit.edu 37 6 30681101 30681102 + Frame_Shift_Ins INS - - C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:30681101_30681102insC ENST00000376406.3 - 5 1264_1265 c.617_618insG c.(616-618)gggfs p.G206fs MDC1_ENST00000376405.2_Frame_Shift_Ins_p.G206fs NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 206 Interaction with the MRN complex.|Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GCCCAAGGCCGCCCAGGACCGG 0.530 Other conserved DNA damage response genes 10 188 --- --- --- --- LRRC73 221424 broad.mit.edu 37 6 43475289 43475291 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:43475289_43475291delTCC ENST00000372441.1 - 5 1683_1685 c.783_785delGGA c.(781-786)gaa>ga p.EE261del NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 261 Poly-Glu. TCCTGCCACTTCCTCCTCCTCCT 0.631 8 230 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gafs p.E169fs SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 9 44 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 7 342 --- --- --- --- EPDR1 54749 broad.mit.edu 37 7 37960346 37960365 + Translation_Start_Site DEL CCTGGTCCCGGCTACCGGGA CCTGGTCCCGGCTACCGGGA - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr7:37960346_37960365delCCTGGTCCCGGCTACCGGGA ENST00000199448.4 + 0 184_203 EPDR1_ENST00000423717.1_De_novo_Start_OutOfFrame|EPDR1_ENST00000559325.1_Frame_Shift_Del_p.ALVPATGT55fs|EPDR1_ENST00000476620.1_Intron NM_017549.4 NP_060019.2 Q9UM22 EPDR1_HUMAN ependymin related 1 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 TTCCCCGGGCCCTGGTCCCGGCTACCGGGACTCGCGCGTC 0.659 8 109 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 9 85 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100280978 100280980 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr7:100280978_100280980delCTG ENST00000275732.5 - 18 3349_3351 c.2140_2142delCAG c.(2140-2142)del p.Q714del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 714 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCTGCTCCTCCTGCTGCTGCTGG 0.650 7 848 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100684307 100684308 + In_Frame_Ins INS - - CTC TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr7:100684307_100684308insCTC ENST00000306151.4 + 3 9674_9675 c.9610_9611insCTC c.(9610-9612)tac>CTCtac p.3203_3204insL NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3203 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity 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) AGCCACTTCATCTACAACTGCT 0.500 14 1412 --- --- --- --- LRRCC1 85444 broad.mit.edu 37 8 86041589 86041589 + Frame_Shift_Del DEL A A - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr8:86041589delA ENST00000414626.2 + 9 2430 c.1541delA c.(1540-1542)cafs p.Q514fs LRRCC1_ENST00000360375.3_Frame_Shift_Del_p.Q534fs Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 534 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 ATGGAGAGACAAAAAAGGCAG 0.333 7 569 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 8 213 --- --- --- --- NOL6 65083 broad.mit.edu 37 9 33466939 33466939 + Frame_Shift_Del DEL G G - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:33466939delG ENST00000379471.2 - 15 2008 c.1921delC c.(1921-1923)tgfs p.L641fs NOL6_ENST00000455041.2_Frame_Shift_Del_p.L589fs|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 641 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGTGCATCCAGGGGGCCCCCC 0.512 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 2754 --- --- --- --- PIGO 84720 broad.mit.edu 37 9 35091692 35091693 + Frame_Shift_Ins INS - - G rs148341577 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:35091692_35091693insG ENST00000378617.3 - 7 2585_2586 c.2191_2192insC c.(2191-2193)tctfs p.S731fs PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.S731fs NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 731 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity p.R731fs*17(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GACCCGGAGACGGGGGGGAGCC 0.658 11 1493 --- --- --- --- ATP8B5P 0 broad.mit.edu 37 9 35450410 35450411 + RNA INS - - T TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:35450410_35450411insT ENST00000430846.1 + 0 3260_3261 TTGACTTGAGGTTTTTTTTTCC 0.342 9 503 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 8 312 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 7 51 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 7 309 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 8 315 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 8 468 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 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_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del 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 7 467 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 19 1564 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 7 446 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 11 541 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 13 1350 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 7 793 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 9 347 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 13 1045 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 7 372 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 7 336 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 8 845 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 8 120 --- --- --- --- TANC2 26115 broad.mit.edu 37 17 61345105 61345116 + Splice_Site DEL TCAGCCACCAGC TCAGCCACCAGC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr17:61345105_61345116delTCAGCCACCAGC ENST00000424789.2 + 7 815_823 c.811_splice c.e7-1 p.271_splice TANC2_ENST00000389520.4_Splice_Site_p.271_splice|AC037445.1_ENST00000581421.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 271 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 TTCTTTCTTGTCAGCCACCAGCTCTGCCCACT 0.448 23 162 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 7 605 --- --- --- --- RETN 56729 broad.mit.edu 37 19 7734228 7734230 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:7734228_7734230delCTC ENST00000221515.2 + 2 104_106 c.16_18delCTC c.(16-18)del p.L9del RETN_ENST00000381324.2_In_Frame_Del_p.L9del NM_001193374.1|NM_020415.3 NP_001180303.1|NP_065148.1 Q9HD89 RETN_HUMAN resistin 9 hormone activity ovary(1) 1 AGCTCTCTGTCTCCTCCTCCTCC 0.596 7 684 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 14 201 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs 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 10 1285 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 526 --- --- --- --- RBCK1 10616 broad.mit.edu 37 20 400073 400074 + Frame_Shift_Ins INS - - G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr20:400073_400074insG ENST00000356286.5 + 5 1248_1249 c.543_544insG c.(541-546)ccgacgfs p.T182fs RBCK1_ENST00000382181.2_Frame_Shift_Ins_p.R65fs|RBCK1_ENST00000353660.3_Frame_Shift_Ins_p.T140fs NM_031229.2 NP_112506.2 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 1 182 Interaction with IRF3.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CCCAGGAACCCGGACGGGGGCA 0.668 7 109 --- --- --- --- ZDHHC8 29801 broad.mit.edu 37 22 20132774 20132774 + Frame_Shift_Del DEL C C - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr22:20132774delC ENST00000334554.7 + 11 2290 c.2149delC c.(2149-2151)ccfs p.P718fs ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P626fs NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 718 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) GCTGAAGACTCCCCCAAGTAA 0.637 7 1154 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 9 478 --- --- --- --- DNAJB7 150353 broad.mit.edu 37 22 41257115 41257115 + Frame_Shift_Del DEL T T - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chr22:41257115delT ENST00000307221.4 - 1 1015 c.884delA c.(883-885)agfs p.K296fs XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 296 Poly-Lys. protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TTTACGCTTCTTTTTTTTCCT 0.378 8 467 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 8 767 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 10 448 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f137e1d-fdcc-4d47-84e4-6fb48a7f236b 39946151-48c1-482f-961e-3f170e963b75 g.chrX:154157686delT ENST00000360256.4 - 14 4579 c.4379delA c.(4378-4380)atfs p.N1461fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1461 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.N1460fs*5(2)|p.N1460fs*2(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGAAAGGTTATTTTTTTTGGC 0.413 11 321 --- --- --- ---