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 ZNRF4 148066 broad.mit.edu 37 19 5455986 5455986 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:5455986C>T ENST00000222033.4 + 1 561 c.484C>T c.(484-486)Cgc>Tgc p.R162C NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 162 PA. integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CGTGCTGATCCGCCGCTACGA 0.667000 6 68 0 0 1 0 0 TMEM57 55219 broad.mit.edu 37 1 25780788 25780788 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:25780788C>T ENST00000374343.4 + 4 567 c.388C>T c.(388-390)Ctc>Ttc p.L130F TMEM57_ENST00000399766.3_Missense_Mutation_p.L130F|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 130 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTGGATCCTCTTTGTTTA 0.383000 24 62 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 73 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263198 263198 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:263198C>G ENST00000360127.6 + 2 580 c.564C>G c.(562-564)atC>atG p.I188M C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 188 breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 GGATTCGCATCTATAAACTGA 0.567000 14 65 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8379305 8379305 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr18:8379305G>C ENST00000332175.8 + 26 4751 c.3714G>C c.(3712-3714)gaG>gaC p.E1238D PTPRM_ENST00000400060.4_Missense_Mutation_p.E1252D|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1176D|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1251D|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1025D NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1238 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TCGATGGGGAGAGCAGCAACT 0.617000 16 63 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47680808 47680808 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr21:47680808C>G ENST00000397708.1 - 16 3734 c.3480G>C c.(3478-3480)gaG>gaC p.E1160D MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1160D O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1160 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CCAGCTCTCTCTCTTGTTTCA 0.483000 18 58 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30937110 30937110 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr11:30937110C>G ENST00000597505.1 - 25 3600 c.3601G>C c.(3601-3603)Gag>Cag p.E1201Q DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E280Q P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GATTTCTTCTCCACCAAAACC 0.463000 18 88 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35661155 35661155 + Silent SNP C C T rs139292363 byFrequency TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr20:35661155C>T ENST00000373664.3 - 16 2361 c.2295G>A c.(2293-2295)caG>caA p.Q765Q RBL1_ENST00000344359.3_Silent_p.Q765Q NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 765 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) TCAGATTGGTCTGTTTTGGAG 0.388000 46 153 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:7578395G>T ENST00000420246.2 - 5 667 c.535C>A c.(535-537)Cat>Aat p.H179N TP53_ENST00000359597.4_Missense_Mutation_p.H179N|TP53_ENST00000269305.4_Missense_Mutation_p.H179N|TP53_ENST00000413465.2_Missense_Mutation_p.H179N|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179N|TP53_ENST00000455263.2_Missense_Mutation_p.H179N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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) CAGCGCTCATGGTGGGGGCAG 0.642000 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) 26 42 1.39806e-14 1.48589e-14 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79324833 79324833 + Missense_Mutation SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr9:79324833G>T ENST00000428286.1 - 8 2480 c.1280C>A c.(1279-1281)aCa>aAa p.T427K PRUNE2_ENST00000376718.3_Missense_Mutation_p.T786K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 786 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ACCATCATCTGTAGGATTTCC 0.493000 7 15 8.12818e-05 8.16842e-05 1 1 0 DOCK8 81704 broad.mit.edu 37 9 379800 379800 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr9:379800G>A ENST00000432829.2 + 21 2582 c.2266G>A c.(2266-2268)Gtg>Atg p.V756M DOCK8_ENST00000382331.1_Missense_Mutation_p.V126M|DOCK8_ENST00000469391.1_Missense_Mutation_p.V756M|DOCK8_ENST00000382329.1_Missense_Mutation_p.V291M|DOCK8_ENST00000453981.1_Missense_Mutation_p.V824M NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 824 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CTTCGAGTCCGTGGTGGCCAT 0.557000 25 115 0 0 1 0 0 LPCAT2 54947 broad.mit.edu 37 16 55563782 55563782 + Missense_Mutation SNP C C T rs142700202 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr16:55563782C>T ENST00000262134.5 + 4 749 c.565C>T c.(565-567)Cgt>Tgt p.R189C NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 189 cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 TTTGGTGTCCCGTGTAGATCC 0.398000 4 12 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136587242 136587242 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:136587242G>A ENST00000264162.2 - 3 735 c.725C>T c.(724-726)aCg>aTg p.T242M NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 242 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GAAATCGACCGTGTCCTGAAA 0.418000 18 63 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38247441 38247441 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr22:38247441C>G ENST00000406934.1 + 2 738 c.23C>G c.(22-24)tCt>tGt p.S8C EIF3L_ENST00000412331.2_Silent_p.V79V|EIF3L_ENST00000381683.6_Silent_p.V79V|EIF3L_ENST00000476955.1_3'UTR Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 0 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCAGTCGTGTCTCCAGTGATG 0.473000 12 20 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97602196 97602196 + Missense_Mutation SNP C C A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr10:97602196C>A ENST00000371207.3 + 4 457 c.394C>A c.(394-396)Cag>Aag p.Q132K ENTPD1_ENST00000543964.1_Missense_Mutation_p.Q12K|ENTPD1_ENST00000539125.1_Intron|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000371205.4_Missense_Mutation_p.Q120K|ENTPD1_ENST00000453258.2_Missense_Mutation_p.Q127K NM_001164178.1 NP_001157650.1 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 120 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TCCAAGGTCCCAGCACCAAGA 0.488000 16 80 1.15088e-07 1.19198e-07 1 1 0 IL5 3567 broad.mit.edu 37 5 131879115 131879115 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr5:131879115G>A ENST00000231454.1 - 1 99 c.56C>T c.(55-57)gCc>gTc p.A19V NM_000879.2 NP_000870.1 P05113 IL5_HUMAN interleukin 5 (colony-stimulating factor, eosinophil) 19 immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly extracellular space cytokine activity|growth factor activity|interleukin-5 receptor binding endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Pranlukast(DB01411) TGTGGGGATGGCATACACGTA 0.458000 4 114 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 9 47 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38349158 38349158 + Missense_Mutation SNP G G A rs146612743 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr3:38349158G>A ENST00000273173.4 + 3 813 c.722G>A c.(721-723)cGc>cAc p.R241H SLC22A14_ENST00000448498.1_Missense_Mutation_p.R241H NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 241 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TTGTTCTTTCGCTTTGGCATC 0.572000 33 122 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12984814 12984814 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:12984814G>A ENST00000251472.4 + 26 3882 c.3843G>A c.(3841-3843)gcG>gcA p.A1281A NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 1281 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 AGAAGGGCGCGCTGCGCAAAC 0.677000 5 11 0 0 1 0 0 SLAIN2 57606 broad.mit.edu 37 4 48381835 48381835 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr4:48381835G>C ENST00000264313.6 + 4 1250 c.832G>C c.(832-834)Gta>Cta p.V278L SLAIN2_ENST00000512093.1_Missense_Mutation_p.V85L NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 278 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 TGTAACTGATGTACAGATTCT 0.328000 38 113 0 0 1 0 0 C19orf45 374877 broad.mit.edu 37 19 7569219 7569219 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:7569219G>A ENST00000361664.2 + 4 845 c.704G>A c.(703-705)gGa>gAa p.G235E NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 235 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 GTGGAGCTGGGAGACTGCAAG 0.612000 16 66 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62788576 62788576 + RNA SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:62788576C>T ENST00000582986.1 - 0 2033 NR_024386.1 TCCACATGCTCGTACAGAGAC 0.632000 22 89 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135745824 135745824 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr3:135745824G>A ENST00000264977.3 + 3 2763 c.2146G>A c.(2146-2148)Gaa>Aaa p.E716K PPP2R3A_ENST00000490467.1_5'UTR|PPP2R3A_ENST00000492624.2_5'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E95K NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 716 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTACTTTCCTGAAGGACTCCC 0.428000 20 76 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695156 247695156 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:247695156C>T ENST00000366487.3 - 2 1019 c.658G>A c.(658-660)Ggc>Agc p.G220S GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GCAATGTGGCCGTAAGAGACC 0.542000 4 77 0 0 1 0 0 MFF 56947 broad.mit.edu 37 2 228212087 228212087 + Missense_Mutation SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:228212087G>T ENST00000353339.3 + 8 1180 c.739G>T c.(739-741)Gat>Tat p.D247Y MFF_ENST00000392059.1_Missense_Mutation_p.D247Y|MFF_ENST00000524634.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.D196Y|MFF_ENST00000349901.7_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000337110.7_Intron|MFF_ENST00000409616.1_Intron NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 247 integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 GGATGTGCTGGATGAAAATCG 0.448000 22 91 3.6726e-16 3.92389e-16 1 1 0 TIRAP 114609 broad.mit.edu 37 11 126160817 126160817 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr11:126160817C>T ENST00000392679.1 + 3 311 c.28C>T c.(28-30)Cct>Tct p.P10S TIRAP_ENST00000392678.3_Missense_Mutation_p.P10S|TIRAP_ENST00000392680.2_Missense_Mutation_p.P10S P58753 TIRAP_HUMAN toll-interleukin 1 receptor (TIR) domain containing adaptor protein 10 3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway endocytic vesicle|intrinsic to membrane|ruffle membrane phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 6 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739) CCTCCCAGCTCCTGGCTCTCG 0.597000 8 11 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39726491 39726491 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr12:39726491G>A ENST00000395670.3 - 20 3177 c.2758C>T c.(2758-2760)Cgc>Tgc p.R920C KIF21A_ENST00000361961.3_Missense_Mutation_p.R907C|KIF21A_ENST00000544797.2_Missense_Mutation_p.R907C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R884C|KIF21A_ENST00000361418.5_Missense_Mutation_p.R920C Q7Z4S6 KI21A_HUMAN kinesin family member 21A 920 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CACTTCATGCGAGCTGTCTTG 0.418000 15 66 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 3 21 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 4 83 0 0 1 0 0 TNNT1 7138 broad.mit.edu 37 19 55649431 55649431 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:55649431C>G ENST00000588981.1 - 10 603 c.399G>C c.(397-399)atG>atC p.M133I TNNT1_ENST00000587465.2_Missense_Mutation_p.M63I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000356783.5_Missense_Mutation_p.M122I|TNNT1_ENST00000587758.1_Missense_Mutation_p.M122I|TNNT1_ENST00000585321.2_Missense_Mutation_p.M63I|TNNT1_ENST00000291901.8_Missense_Mutation_p.M133I|TNNT1_ENST00000536926.1_Missense_Mutation_p.M122I|TNNT1_ENST00000588426.1_Missense_Mutation_p.M30I NM_003283.4 NP_003274.3 P13805 TNNT1_HUMAN troponin T type 1 (skeletal, slow) 133 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) CTTCCTTCCTCATCTTCTCCT 0.567000 11 64 0 0 1 0 0 EXOSC7 23016 broad.mit.edu 37 3 45049058 45049058 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr3:45049058G>A ENST00000265564.7 + 7 810 c.762G>A c.(760-762)gaG>gaA p.E254E EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 254 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) GCATCTTCGAGATGATGGAGG 0.612000 8 25 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959819 45959819 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr21:45959819G>A ENST00000400375.1 - 1 259 c.215C>T c.(214-216)aCc>aTc p.T72I TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 72 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GCAGGAGCTGGTGCAGCCTGA 0.711000 4 151 0 0 1 0 0 ELAC1 55520 broad.mit.edu 37 18 48513077 48513077 + Silent SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr18:48513077C>G ENST00000269466.3 + 4 821 c.714C>G c.(712-714)gtC>gtG p.V238V RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_3'UTR|SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 238 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) CCCAAGATGTCTTAAAAAAGC 0.433000 14 48 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38810443 38810443 + Missense_Mutation SNP C C T rs78877915 by1000genomes TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:38810443C>T ENST00000359357.3 + 33 4212 c.3958C>T c.(3958-3960)Cgt>Tgt p.R1320C DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320C dynein, axonemal, heavy chain 8 p.R1320C(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGAAAGATGTCGTAAACTTCC 0.318000 13 48 0 0 1 0 0 C8orf46 254778 broad.mit.edu 37 8 67408707 67408707 + Nonsense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr8:67408707C>T ENST00000305454.3 + 2 547 c.106C>T c.(106-108)Cag>Tag p.Q36* C8orf46_ENST00000522977.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000521495.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000480005.1_Nonsense_Mutation_p.Q36* NM_152765.3 NP_689978.2 Q8TAG6 CH046_HUMAN chromosome 8 open reading frame 46 36 endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2) 6 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CAAAAGCTCTCAGCACCTCTT 0.418000 13 75 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31470893 31470893 + Silent SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr16:31470893C>T ENST00000457010.2 + 1 749 c.48C>T c.(46-48)ctC>ctT p.L16L RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000563544.1_Silent_p.L16L|ARMC5_ENST00000538189.1_Silent_p.L48L|ARMC5_ENST00000408912.3_Silent_p.L111L|ARMC5_ENST00000268314.4_Silent_p.L16L NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 16 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CGTTCTGCCTCGCGCAGCTCG 0.716000 5 16 0 0 1 0 0 FBXL4 26235 broad.mit.edu 37 6 99374800 99374800 + Missense_Mutation SNP C C T rs147696366 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:99374800C>T ENST00000369244.2 - 4 493 c.65G>A c.(64-66)cGa>cAa p.R22Q FBXL4_ENST00000229971.1_Missense_Mutation_p.R22Q Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 22 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TGTCCTGGCTCGGCGCCGAAG 0.453000 29 119 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23542504 23542504 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:23542504G>C ENST00000300619.7 - 4 3482 c.3277C>G c.(3277-3279)Cta>Gta p.L1093V ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.L1061V NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1093 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TGTCTAGTTAGGGTTGAAGAT 0.393000 9 50 0 0 1 0 0 DOK5 55816 broad.mit.edu 37 20 53227001 53227001 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr20:53227001C>G ENST00000262593.5 + 6 1024 c.674C>G c.(673-675)tCt>tGt p.S225C DOK5_ENST00000395939.1_Missense_Mutation_p.S117C NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 225 IRS-type PTB. SAALAIAEQH -> LLQMKMSERA (in Ref. 1; AAF66443). insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) AAAGTCCACTCTGCTGCCTTG 0.498000 11 53 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19641684 19641684 + Silent SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:19641684C>T ENST00000457500.2 - 9 1628 c.1299G>A c.(1297-1299)ctG>ctA p.L433L ALDH3A1_ENST00000395555.3_Silent_p.L369L|ALDH3A1_ENST00000444455.1_Silent_p.L433L|ALDH3A1_ENST00000225740.6_Silent_p.L433L|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Silent_p.L360L NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 433 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) CATCATTCATCAGAGGCCTCA 0.627000 26 95 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994787 143994787 + Silent SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr8:143994787C>G ENST00000323110.2 - 6 1037 c.1035G>C c.(1033-1035)ctG>ctC p.L345L NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 345 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTGCGGCGGCCAGGCTCTCCT 0.637000 Familial Hyperaldosteronism type I 15 103 0 0 1 0 0 RGS5 8490 broad.mit.edu 37 1 163131767 163131767 + Splice_Site SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:163131767C>G ENST00000313961.5 - 3 433 c.e3-1 RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000534288.1_Splice_Site|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000530507.1_Splice_Site|RGS5_ENST00000367903.3_Splice_Site NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) CAGCGAGGTTCTACATCAATA 0.423000 7 39 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141709461 141709461 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:141709461C>G ENST00000389484.3 - 19 3907 c.2936G>C c.(2935-2937)aGa>aCa p.R979T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 979 LDL-receptor class A 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCTAATGCATCTTCCACTTTT 0.448000 TSP Lung(27;0.18) 8 50 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121623864 121623864 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr7:121623864C>G ENST00000393386.2 + 7 1176 c.765C>G c.(763-765)atC>atG p.I255M PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I255M NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 255 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CAGTTAGCATCTCTGAAAGCC 0.318000 21 79 0 0 1 0 0 SPIRE1 56907 broad.mit.edu 37 18 12452279 12452279 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr18:12452279G>A ENST00000409402.4 - 16 2254 c.1987C>T c.(1987-1989)Cat>Tat p.H663Y SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.H649Y|SPIRE1_ENST00000309836.5_Missense_Mutation_p.H452Y|SPIRE1_ENST00000453447.2_Missense_Mutation_p.H529Y NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 663 cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 AGTGGCCGATGATGGGCAGTG 0.502000 7 40 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158449979 158449979 + Missense_Mutation SNP G G A rs147584404 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:158449979G>A ENST00000355585.4 + 3 481 c.406G>A c.(406-408)Gat>Aat p.D136N SYNJ2_ENST00000367121.3_Missense_Mutation_p.D136N|SYNJ2_ENST00000449859.2_Missense_Mutation_p.D85N|SYNJ2_ENST00000367122.2_Missense_Mutation_p.D136N NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 136 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ATGGCCAAACGATGGGTCTCG 0.552000 16 54 0 0 1 0 0 NEK9 91754 broad.mit.edu 37 14 75576576 75576576 + Missense_Mutation SNP T T C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr14:75576576T>C ENST00000238616.5 - 10 1152 c.994A>G c.(994-996)Agc>Ggc p.S332G NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 332 cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) GTCACAGTGCTTGACCTGCCA 0.428000 3 50 0 0 1 0 0 TBC1D7 51256 broad.mit.edu 37 6 13327061 13327061 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:13327061C>G ENST00000607658.1 - 2 220 c.70G>C c.(70-72)Gaa>Caa p.E24Q TBC1D7_ENST00000379300.3_Missense_Mutation_p.E24Q|TBC1D7_ENST00000379307.2_Missense_Mutation_p.E24Q|TBC1D7_ENST00000356436.4_Missense_Mutation_p.E24Q|TBC1D7_ENST00000343141.4_Missense_Mutation_p.E24Q|TBC1D7_ENST00000607532.1_5'UTR Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 24 positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) GATTTCTTTTCTTCAACTCCA 0.368000 15 55 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 53 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45889216 45889216 + Splice_Site SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:45889216C>G ENST00000418234.2 - 10 2026 c.e10-1 PPP1R13L_ENST00000360957.5_Splice_Site NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGTCGTTCATCTGAGTGCACC 0.657000 3 8 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12904896 12904896 + Silent SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chrX:12904896G>C ENST00000380659.3 + 3 1408 c.1269G>C c.(1267-1269)ctG>ctC p.L423L NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 423 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TTAAAAGACTGAAAGTCATAG 0.333000 22 82 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129870426 129870426 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr10:129870426C>T ENST00000254667.3 + 16 1691 c.1412C>T c.(1411-1413)tCc>tTc p.S471F PTPRE_ENST00000419012.2_Missense_Mutation_p.S471F|PTPRE_ENST00000306042.5_Missense_Mutation_p.S413F NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 471 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GTGATCCTTTCCATGAAAAGG 0.418000 7 27 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76342415 76342415 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr5:76342415G>C ENST00000312916.7 + 6 1496 c.1114G>C c.(1114-1116)Gaa>Caa p.E372Q NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 372 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AGAGGAAGGTGAAATTACAGA 0.373000 18 132 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 26022288 26022288 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:26022288G>A ENST00000435504.4 - 5 662 c.369C>T c.(367-369)aaC>aaT p.N123N ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Silent_p.N95N Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 123 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCCCTCCTTGTTGCTGCCAC 0.458000 4 164 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47650381 47650381 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:47650381G>C ENST00000507065.1 + 6 2160 c.1882G>C c.(1882-1884)Gac>Cac p.D628H GPR111_ENST00000296862.1_Missense_Mutation_p.D696H|GPR111_ENST00000398742.2_Intron Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 696 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 AGATGCTTCTGACCAAGTGCA 0.433000 10 36 0 0 1 0 0 CORO2B 10391 broad.mit.edu 37 15 69003203 69003203 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:69003203G>A ENST00000543950.1 + 4 805 c.451G>A c.(451-453)Gct>Act p.A151T CORO2B_ENST00000566799.1_Missense_Mutation_p.A156T|CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 156 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCTGTTCAGCGCTGGCTACGA 0.622000 3 10 0 0 1 0 0 WNT8B 7479 broad.mit.edu 37 10 102242120 102242120 + Silent SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr10:102242120C>T ENST00000343737.5 + 6 731 c.603C>T c.(601-603)ttC>ttT p.F201F NM_003393.3 NP_003384.2 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, member 8B 201 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) TGCCCGAGTTCCGCGAGGTGG 0.682000 OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 26 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23908832 23908832 + Silent SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr13:23908832G>C ENST00000382298.3 - 10 9771 c.9183C>G c.(9181-9183)ctC>ctG p.L3061L SACS_ENST00000382292.3_Silent_p.L3061L|SACS_ENST00000402364.1_Silent_p.L2311L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3061 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTTCTAAAAGGAGATGTTTCA 0.343000 9 45 0 0 1 0 0 MAP1LC3A 84557 broad.mit.edu 37 20 33147238 33147238 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr20:33147238G>A ENST00000360668.3 + 3 945 c.184G>A c.(184-186)Gag>Aag p.E62K MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.E62K|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.E66K Q9H492 MLP3A_HUMAN microtubule-associated protein 1 light chain 3 alpha 62 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule phosphatidylethanolamine binding|protein binding p.E66*(1) cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2) 5 CAACATGAGCGAGTTGGTCAA 0.642000 9 26 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32372949 32372949 + Nonsense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:32372949C>T ENST00000454136.3 - 2 198 c.194G>A c.(193-195)tGg>tAg p.W65* BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Nonsense_Mutation_p.W65*|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.W65*|BTNL2_ENST00000429232.2_Nonsense_Mutation_p.W65*|BTNL2_ENST00000544175.1_Intron Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 65 Ig-like V-type 1. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 TGAGCGGTACCACCTCACCTC 0.577000 30 96 0 0 1 0 0 RASL11A 387496 broad.mit.edu 37 13 27847630 27847630 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr13:27847630G>A ENST00000241463.4 + 4 1346 c.728G>A c.(727-729)tGa>tAa p.*243* NM_206827.1 NP_996563.1 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 0 positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 10 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) GCACTGGGGTGAACTATCTCA 0.483000 9 36 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20657700 20657700 + RNA SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:20657700C>T ENST00000428453.1 - 0 2258 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 CGCTGTGCTGCAGGGTGAGCA 0.602000 5 35 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811313 140811313 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr5:140811313G>A ENST00000252085.3 + 1 1129 c.987G>A c.(985-987)gcG>gcA p.A329A PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATATTCTGCGCGAGCCAAAG 0.512000 33 94 0 0 1 0 0 IGLV2-33 28811 broad.mit.edu 37 22 22931032 22931032 + RNA SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr22:22931032C>T ENST00000390302.2 + 0 285 AATACTCGGCCTTCAGGGATC 0.507000 46 244 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994004 144994004 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr8:144994004C>G ENST00000322810.4 - 32 10565 c.10396G>C c.(10396-10398)Gag>Cag p.E3466Q PLEC_ENST00000398774.2_Missense_Mutation_p.E3297Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3307Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3329Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3329Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3333Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3352Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3356Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3315Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3466 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TTGAGCTGCTCAAACTGGGCT 0.677000 14 56 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37488171 37488171 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:37488171G>A ENST00000455427.2 + 9 1715 c.1386G>A c.(1384-1386)caG>caA p.Q462Q NM_001204839.1 NP_001191768.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCGACATCAGAGTGTCCATA 0.448000 4 8 0 0 1 0 0 CRLF1 9244 broad.mit.edu 37 19 18710558 18710558 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:18710558C>T ENST00000392386.3 - 2 407 c.214G>A c.(214-216)Gag>Aag p.E72K NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 72 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 TAGAGGCCCTCGGCGGTGGCT 0.662000 3 11 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86824078 86824078 + Missense_Mutation SNP C C A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr7:86824078C>A ENST00000414194.2 + 17 3101 c.1309C>A c.(1309-1311)Cat>Aat p.H437N DMTF1_ENST00000394703.5_Missense_Mutation_p.H703N|DMTF1_ENST00000432937.2_Missense_Mutation_p.H615N|DMTF1_ENST00000413276.2_Missense_Mutation_p.H633N|DMTF1_ENST00000331242.7_Missense_Mutation_p.H703N Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 703 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) TCCTTCACCACATGGCTTTAT 0.333000 10 57 2.27111e-07 2.34028e-07 1 1 0 HIPK1 204851 broad.mit.edu 37 1 114483273 114483273 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:114483273G>C ENST00000369558.1 + 2 500 c.268G>C c.(268-270)Gat>Cat p.D90H HIPK1_ENST00000369555.2_Missense_Mutation_p.D90H|HIPK1_ENST00000426820.2_Missense_Mutation_p.D90H|HIPK1_ENST00000369554.2_Missense_Mutation_p.D90H|HIPK1_ENST00000369559.4_Missense_Mutation_p.D90H|HIPK1_ENST00000369561.4_Missense_Mutation_p.D90H Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACAGCCGCTGATAGCTCGGG 0.507000 18 97 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16893758 16893758 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:16893758C>G ENST00000430580.2 - 25 3642 c.2755G>C c.(2755-2757)Gaa>Caa p.E919Q NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 919 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCAGTCAGTTCAAGATAACCT 0.493000 24 1036 0 0 1 0 0 STX16 8675 broad.mit.edu 37 20 57246299 57246299 + Silent SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr20:57246299C>T ENST00000371141.4 + 7 1462 c.738C>T c.(736-738)tcC>tcT p.S246S STX16-NPEPL1_ENST00000530122.1_Silent_p.S246S|STX16_ENST00000358029.4_Silent_p.S242S|STX16_ENST00000496003.1_Intron|STX16_ENST00000359617.4_Silent_p.S193S|STX16_ENST00000371132.4_Silent_p.S225S|STX16_ENST00000355957.5_Silent_p.S229S|STX16_ENST00000361830.3_Silent_p.S246S|STX16_ENST00000361770.5_Silent_p.S229S NM_001001433.2 NP_001001433.1 O14662 STX16_HUMAN syntaxin 16 246 t-SNARE coiled-coil homology. intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) TTGTACAGTCCATTTCTGACC 0.478000 18 101 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50243317 50243317 + Splice_Site SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:50243317C>G ENST00000246801.3 - 10 1703 c.1622_splice c.e10+1 p.E541_splice TSKS_ENST00000358830.3_Splice_Site_p.E341_splice NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 541 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CTTCCTCACTCTGGCTTCATC 0.622000 38 127 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101592104 101592104 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:101592104G>A ENST00000284395.5 + 25 4019 c.3619G>A c.(3619-3621)Gac>Aac p.D1207N LRRK1_ENST00000388948.3_Missense_Mutation_p.D1210N|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1210 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGACACCCGGACCTCCCCGT 0.617000 12 29 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79292223 79292223 + Missense_Mutation SNP C C T rs141523460 byFrequency TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:79292223C>T ENST00000419573.3 - 18 2930 c.2656G>A c.(2656-2658)Gtc>Atc p.V886I RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.V870I|RASGRF1_ENST00000394745.3_Missense_Mutation_p.V102I NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 888 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GAGGTCATGACGACTCCATTG 0.567000 19 73 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50893798 50893798 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr22:50893798C>T ENST00000380817.2 - 33 4592 c.4409G>A c.(4408-4410)cGc>cAc p.R1470H SBF1_ENST00000348911.6_Missense_Mutation_p.R1445H|SBF1_ENST00000390679.3_Missense_Mutation_p.R1444H NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1444 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CTCCAGCGTGCGGTAGAAGGG 0.682000 3 49 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76776328 76776328 + Nonsense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chrX:76776328G>A ENST00000373344.5 - 34 7352 c.7138C>T c.(7138-7140)Cag>Tag p.Q2380* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q2342* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2380 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCAAGCTCCTGGCTGGCTTGT 0.373000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 22 64 0 0 1 0 0 ACAT2 39 broad.mit.edu 37 6 160189587 160189587 + Missense_Mutation SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:160189587G>T ENST00000367048.4 + 4 2177 c.417G>T c.(415-417)gaG>gaT p.E139D ACAT2_ENST00000541436.1_Missense_Mutation_p.E168D NM_005891.2 NP_005882.2 Q9BWD1 THIC_HUMAN acetyl-CoA acetyltransferase 2 139 mitochondrion|nucleolus acetyl-CoA C-acetyltransferase activity|protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 9 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AGATAGGTGAGATGCCACTGA 0.413000 26 93 9.86323e-18 1.05938e-17 1 1 0 CBLC 23624 broad.mit.edu 37 19 45296736 45296736 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:45296736G>A ENST00000270279.3 + 8 1206 c.1143G>A c.(1141-1143)tcG>tcA p.S381S CBLC_ENST00000341505.4_Silent_p.S335S NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 381 cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CCCAGCACTCGGACAGCCAGA 0.627000 M AML 4 21 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31134180 31134180 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr10:31134180G>A ENST00000538351.1 - 8 2804 c.2050C>T c.(2050-2052)Cat>Tat p.H684Y ZNF438_ENST00000331737.6_Missense_Mutation_p.H723Y|ZNF438_ENST00000361310.3_Missense_Mutation_p.H733Y|ZNF438_ENST00000452305.1_Missense_Mutation_p.H723Y|ZNF438_ENST00000413025.1_Missense_Mutation_p.H733Y|ZNF438_ENST00000444692.2_Missense_Mutation_p.H723Y|ZNF438_ENST00000375311.1_Missense_Mutation_p.H297Y|ZNF438_ENST00000436087.2_Missense_Mutation_p.H733Y|ZNF438_ENST00000442986.1_Missense_Mutation_p.H733Y NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 733 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CCATTCTGATGAAGGTGGAGC 0.542000 27 103 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57746152 57746152 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:57746152C>G ENST00000269122.3 + 14 2417 c.2143C>G c.(2143-2145)Ctg>Gtg p.L715V CLTC_ENST00000393043.1_Missense_Mutation_p.L715V|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 715 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTTTTATTTTCTGGGATCCAT 0.328000 T """ALK, TFE3""" """ALCL, renal """ 6 18 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59789756 59789756 + Missense_Mutation SNP C C A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr14:59789756C>A ENST00000395125.1 + 5 610 c.587C>A c.(586-588)gCt>gAt p.A196D DAAM1_ENST00000360909.3_Missense_Mutation_p.A196D|DAAM1_ENST00000351081.1_Missense_Mutation_p.A196D NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 196 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CAAGGCCGGGCTCACGTCCTG 0.463000 9 34 1.12685e-05 1.14375e-05 1 1 0 KDM3B 51780 broad.mit.edu 37 5 137735605 137735605 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr5:137735605G>A ENST00000314358.5 + 11 3303 c.3103G>A c.(3103-3105)Gaa>Aaa p.E1035K KDM3B_ENST00000542866.1_Missense_Mutation_p.E67K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E691K NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1035 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TGATGTGTGTGAAACAACTCT 0.507000 17 53 0 0 1 0 0 CCDC172 374355 broad.mit.edu 37 10 118084573 118084573 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr10:118084573C>T ENST00000333254.3 + 2 301 c.50C>T c.(49-51)gCg>gTg p.A17V CCDC172_ENST00000497093.1_3'UTR NM_198515.2 NP_940917.1 coiled-coil domain containing 172 GAGCATCAGGCGGAGGAGAGT 0.512000 14 42 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47113116 47113116 + Splice_Site SNP A A G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr18:47113116A>G ENST00000261292.4 + 9 1655 c.1376_splice c.e9-1 p.K459_splice LIPG_ENST00000427224.2_Splice_Site_p.K385_splice NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 459 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 TCCCTCCTAGACTGACATTTT 0.507000 7 39 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216221935 216221935 + Missense_Mutation SNP C C A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:216221935C>A ENST00000366943.2 - 31 6490 c.6104G>T c.(6103-6105)tGc>tTc p.C2035F USH2A_ENST00000307340.3_Missense_Mutation_p.C2035F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2035 Fibronectin type-III 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGCCAAAGTGCAAGCAGTTAG 0.413000 HNSCC(13;0.011) 24 113 6.12954e-19 6.61859e-19 1 1 0 CHSY1 22856 broad.mit.edu 37 15 101718821 101718821 + Missense_Mutation SNP C C T rs143549949 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:101718821C>T ENST00000254190.3 - 3 1656 c.1181G>A c.(1180-1182)cGa>cAa p.R394Q CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 394 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CATTCCTCTTCGAGGGGGCTG 0.542000 22 72 0 0 1 0 0 USP51 158880 broad.mit.edu 37 X 55514102 55514102 + Missense_Mutation SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chrX:55514102G>T ENST00000500968.3 - 2 1353 c.1271C>A c.(1270-1272)aCt>aAt p.T424N USP51_ENST00000586165.1_5'UTR NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 424 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 AATGTGAGGAGTTCGGCTCCC 0.448000 15 53 1.15088e-07 1.19198e-07 1 1 0 PLEC 5339 broad.mit.edu 37 8 144992883 144992883 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr8:144992883C>G ENST00000322810.4 - 32 11686 c.11517G>C c.(11515-11517)caG>caC p.Q3839H PLEC_ENST00000398774.2_Missense_Mutation_p.Q3670H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q3680H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q3702H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3702H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3706H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3725H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3729H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q3688H NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3839 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGCTCAGTGTCTGCCTGGAAC 0.662000 3 43 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5461801 5461801 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:5461801C>T ENST00000345221.3 - 4 2769 c.2215G>A c.(2215-2217)Gaa>Aaa p.E739K NLRP1_ENST00000262467.5_Missense_Mutation_p.E739K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E739K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.E739K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E739K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E739K NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 739 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding p.E739K(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CCCATTTCTTCGAAATGGGCC 0.512000 21 93 0 0 1 0 0 XCL1 6375 broad.mit.edu 37 1 168545890 168545890 + Silent SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:168545890C>T ENST00000367818.3 + 1 180 c.15C>T c.(13-15)atC>atT p.I5I NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 5 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) GACTTCTCATCCTGGCCCTCC 0.537000 11 81 0 0 1 0 0 SPIRE1 56907 broad.mit.edu 37 18 12452292 12452292 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr18:12452292G>A ENST00000409402.4 - 16 2241 c.1974C>T c.(1972-1974)ccC>ccT p.P658P SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Silent_p.P644P|SPIRE1_ENST00000309836.5_Silent_p.P447P|SPIRE1_ENST00000453447.2_Silent_p.P524P NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 658 cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 GGGCAGTGGAGGGTTTTTCTG 0.512000 9 44 0 0 1 0 0 CCT4 10575 broad.mit.edu 37 2 62096646 62096646 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:62096646G>A ENST00000394440.3 - 13 1830 c.1534C>T c.(1534-1536)Ctg>Ttg p.L512L CCT4_ENST00000544185.1_Silent_p.L362L|CCT4_ENST00000544079.1_Silent_p.L482L|CCT4_ENST00000538252.1_Silent_p.L456L|CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 512 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) GATACCAACAGAGGCTGGACA 0.418000 11 60 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81971422 81971422 + Silent SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr16:81971422C>T ENST00000359376.3 + 28 3326 c.3112C>T c.(3112-3114)Ctg>Ttg p.L1038L NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 1038 PI-PLC Y-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GGGCTACGTTCTGCAGCCTGA 0.522000 19 73 0 0 1 0 0 EXTL1 2134 broad.mit.edu 37 1 26355755 26355755 + Missense_Mutation SNP C C T rs147835535 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:26355755C>T ENST00000374280.3 + 2 1718 c.851C>T c.(850-852)tCg>tTg p.S284L EXTL1_ENST00000484339.1_3'UTR NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 284 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding p.S284L(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) GAGGCTGCCTCGCGCTTCCTC 0.632000 16 83 0 0 1 0 0 STX12 23673 broad.mit.edu 37 1 28148834 28148834 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:28148834G>A ENST00000373943.4 + 9 950 c.825G>A c.(823-825)acG>acA p.T275T NM_177424.2 NP_803173.1 Q86Y82 STX12_HUMAN syntaxin 12 275 cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) TTTATAAAACGAAGTGATTGC 0.418000 10 93 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166929997 166929997 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:166929997G>A ENST00000423058.2 - 1 152 c.135C>T c.(133-135)gaC>gaT p.D45D SCN1A_ENST00000409050.1_Silent_p.D45D|SCN1A_ENST00000303395.4_Silent_p.D45D|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.D45D NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 45 voltage-gated sodium channel complex voltage-gated sodium channel activity p.D45D(2) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGCCATTTTCGTCGTCATCTT 0.448000 29 158 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81636335 81636335 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:81636335G>C ENST00000558726.1 - 14 1708 c.1573C>G c.(1573-1575)Ctg>Gtg p.L525V TMC3_ENST00000359440.5_Missense_Mutation_p.L524V|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 524 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TCTATGAGCAGAATGCTCGCC 0.512000 9 35 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172546684 172546684 + Silent SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:172546684C>T ENST00000263688.3 + 12 1488 c.1269C>T c.(1267-1269)ttC>ttT p.F423F SUCO_ENST00000367723.3_Intron NM_014283.3 NP_055098.1 SUN domain containing ossification factor TTCAGATGTTCATCAAGTACA 0.303000 4 35 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55804493 55804493 + Splice_Site SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:55804493C>T ENST00000272313.5 - 10 1796 c.e10-1 SMEK2_ENST00000345102.5_Splice_Site|SMEK2_ENST00000407823.3_Splice_Site NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACtatattatctaataaaaaa 0.234000 5 14 0 0 1 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21892035 21892035 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr18:21892035G>A ENST00000319481.3 - 13 1211 c.1005C>T c.(1003-1005)taC>taT p.Y335Y NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 335 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) AGTGAGTGCTGTAAGCAGAAT 0.393000 32 110 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef 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 4 54 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94674875 94674875 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr14:94674875C>T ENST00000304338.3 + 3 420 c.266C>T c.(265-267)aCg>aTg p.T89M PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 89 cytoplasm|protein serine/threonine phosphatase complex protein binding p.T89M(1) NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CCCACTGAGACGCTTCGGAGA 0.388000 9 25 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1028778 1028778 + Missense_Mutation SNP T T A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr11:1028778T>A ENST00000421673.2 - 13 1509 c.1459A>T c.(1459-1461)Atc>Ttc p.I487F NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 487 VWFD 2. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAGACCGTGATGTTGCCTGCA 0.672000 9 54 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1823941 1823941 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr4:1823941C>G ENST00000302787.2 - 10 1871 c.1575G>C c.(1573-1575)ttG>ttC p.L525F NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 525 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding p.L525L(1) breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CAGTGTCCTTCAAGGTCTCTG 0.602000 16 43 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69728363 69728363 + Missense_Mutation SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:69728363G>T ENST00000370598.1 + 13 2900 c.2079G>T c.(2077-2079)caG>caT p.Q693H NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 693 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGGACTTTCAGAATTCATACT 0.323000 11 81 1.08611e-07 1.13649e-07 1 1 0 DIO2 1734 broad.mit.edu 37 14 80669361 80669361 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr14:80669361G>A ENST00000557010.1 - 4 878 c.493C>T c.(493-495)Cat>Tat p.H165Y DIO2_ENST00000555750.1_Missense_Mutation_p.H201Y|DIO2_ENST00000557125.1_Silent_p.L39L|DIO2_ENST00000438257.4_Missense_Mutation_p.H165Y|DIO2_ENST00000422005.3_3'UTR NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 165 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) TCTGATGGATGAGCCTCATCA 0.552000 OREG0022848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 43 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42988769 42988769 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:42988769G>A ENST00000253408.5 - 6 1027 c.962C>T c.(961-963)gCg>gTg p.A321V GFAP_ENST00000435360.2_Missense_Mutation_p.A321V|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.A321V NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 321 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) ATAACTGGCCGCCTCCCGCAC 0.682000 25 52 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2900000 2900000 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr4:2900000G>A ENST00000355842.3 + 8 1694 c.831G>A c.(829-831)ctG>ctA p.L277L ADD1_ENST00000264758.7_Silent_p.L277L|ADD1_ENST00000513328.2_Silent_p.L277L|ADD1_ENST00000398123.2_Silent_p.L277L|ADD1_ENST00000398129.1_Silent_p.L277L|ADD1_ENST00000503455.2_Silent_p.L277L|ADD1_ENST00000446856.1_Silent_p.L277L|ADD1_ENST00000398125.1_Silent_p.L277L P35611 ADDA_HUMAN adducin 1 (alpha) 277 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATGGCATTCTGGTTGATGAAG 0.438000 19 68 0 0 1 0 0 DPH1 1801 broad.mit.edu 37 17 1936876 1936876 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:1936876C>T ENST00000263083.6 + 2 199 c.154C>T c.(154-156)Cgg>Tgg p.R52W DPH1_ENST00000570477.1_5'UTR NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 52 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 GGCAGCAATCCGGGTCCTGCC 0.582000 23 94 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66700187 66700187 + Missense_Mutation SNP C C A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr12:66700187C>A ENST00000247815.4 + 3 729 c.670C>A c.(670-672)Ctt>Att p.L224I NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 224 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) CCTTCCAGTTCTTCTGCCTCG 0.358000 11 65 7.03913e-09 7.40385e-09 1 1 0 CPB2 1361 broad.mit.edu 37 13 46641511 46641511 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr13:46641511G>A ENST00000181383.4 - 7 649 c.633C>T c.(631-633)ctC>ctT p.L211L CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 211 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) CAAGCCTCAGGAGATTGGTAT 0.343000 9 46 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31181273 31181273 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:31181273G>A ENST00000349752.5 - 4 1095 c.456C>T c.(454-456)ttC>ttT p.F152F GALNT14_ENST00000356174.3_Silent_p.F119F|GALNT14_ENST00000324589.5_Silent_p.F157F|GALNT14_ENST00000406653.1_Silent_p.F132F|GALNT14_ENST00000420311.2_Silent_p.F117F NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 152 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GGTCATTGCTGAAGTCATCCA 0.458000 16 45 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39643396 39643396 + Silent SNP G G T rs141243083 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:39643396G>T ENST00000393986.2 - 7 1076 c.864C>A c.(862-864)gcC>gcA p.A288A KRT36_ENST00000328119.6_Silent_p.A338A O76013 KRT36_HUMAN keratin 36 338 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) CCTCGGTTTCGGCCAGGGTGG 0.622000 17 82 5.03518e-11 5.32366e-11 1 1 0 PARP8 79668 broad.mit.edu 37 5 50090843 50090843 + Missense_Mutation SNP T T G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr5:50090843T>G ENST00000281631.5 + 12 1178 c.1020T>G c.(1018-1020)ttT>ttG p.F340L PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.F340L|PARP8_ENST00000514342.2_Missense_Mutation_p.F93L|PARP8_ENST00000505554.1_Missense_Mutation_p.F319L|PARP8_ENST00000505697.2_Missense_Mutation_p.F340L|PARP8_ENST00000514067.2_Missense_Mutation_p.F340L NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 340 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) ACAGGACCTTTGGCCGCTCCT 0.522000 3 103 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73254098 73254098 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr9:73254098C>T ENST00000377110.2 - 11 1702 c.1459G>A c.(1459-1461)Gag>Aag p.E487K TRPM3_ENST00000396285.1_Missense_Mutation_p.E334K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E334K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E359K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E334K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E514K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E487K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E359K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E359K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E359K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E489K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E334K NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 512 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ATGGCTTGCTCCAGAGATCCC 0.453000 23 72 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74196619 74196619 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr14:74196619C>T ENST00000286523.5 - 4 2601 c.1819G>A c.(1819-1821)Gag>Aag p.E607K ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E607K NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 ATGAGGGGCTCGGGCCTGGGC 0.612000 15 45 0 0 1 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 6 15 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135764979 135764979 + Missense_Mutation SNP A A C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chrX:135764979A>C ENST00000250617.6 - 13 2622 c.1417T>G c.(1417-1419)Tta>Gta p.L473V ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L346V NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 473 PH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TTTGAAAATAACATAAGGTAC 0.373000 20 78 0 0 1 0 0 RRAGC 64121 broad.mit.edu 37 1 39305258 39305258 + Silent SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:39305258C>T ENST00000373001.3 - 7 1343 c.1167G>A c.(1165-1167)ctG>ctA p.L389L RRAGC_ENST00000474456.1_5'UTR NM_022157.2 NP_071440.1 Q9HB90 RRAGC_HUMAN Ras-related GTP binding C 389 apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) CATTGTGTGTCAGCGCTTTCA 0.542000 7 55 0 0 1 0 0 LOC101929735 101929735 broad.mit.edu 37 14 22935399 22935399 + RNA SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr14:22935399G>C ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA GAACAGAAATGAGACCCCTAT 0.423000 11 33 0 0 1 0 0 TUBBP1 92755 broad.mit.edu 37 8 30210627 30210627 + RNA SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr8:30210627C>T ENST00000518096.1 + 0 1239 TCACCTTCATCGGCAGTAGCA 0.552000 3 102 0 0 1 0 0 ACVR2B 93 broad.mit.edu 37 3 38520710 38520710 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr3:38520710G>A ENST00000352511.3 + 6 1230 c.758G>A c.(757-759)cGa>cAa p.R253Q NM_001106.3 NP_001097.2 Q13705 AVR2B_HUMAN activin A receptor, type IIB 253 Protein kinase. activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) GCCGAGAAGCGAGGCTCCAAC 0.562000 46 156 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42129621 42129621 + Translation_Start_Site SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr8:42129621G>A ENST00000520810.1 + 2 189 c.3G>A c.(1-3)atG>atA p.M1I IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000522147.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000519735.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000518983.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000416505.2_5'UTR NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 1 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) ACATCAGTATGAGCTGGTCAC 0.473000 OREG0018746 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 64 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134074047 134074047 + Missense_Mutation SNP T T C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr11:134074047T>C ENST00000534548.2 - 10 1173 c.1109A>G c.(1108-1110)tAt>tGt p.Y370C NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 370 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) AAAAGTACGATACTCTGATTT 0.428000 20 28 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 3 46 0 0 1 0 0 C9orf40 55071 broad.mit.edu 37 9 77563059 77563059 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr9:77563059C>T ENST00000376854.5 - 2 764 c.490G>A c.(490-492)Gat>Aat p.D164N NM_017998.2 NP_060468.2 Q8IXQ3 CI040_HUMAN chromosome 9 open reading frame 40 164 lung(2)|stomach(1) 3 TCTGCCAGATCAATAGGAGGC 0.423000 22 66 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16258246 16258246 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:16258246G>A ENST00000375759.3 + 11 5715 c.5511G>A c.(5509-5511)gaG>gaA p.E1837E NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1837 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GTATCGTGGAGAAGCCCGTCA 0.483000 5 63 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52822220 52822220 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr12:52822220C>T ENST00000252245.5 - 7 1422 c.1202G>A c.(1201-1203)cGg>cAg p.R401Q RP11-1020M18.10_ENST00000548135.1_RNA NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 401 Coil 2.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CAGTTCTCCCCGCTGCTCTGC 0.597000 9 36 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94910964 94910964 + Silent SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:94910964C>T ENST00000357742.4 + 10 1432 c.1432C>T c.(1432-1434)Ctg>Ttg p.L478L MCTP2_ENST00000557742.1_Silent_p.L66L|MCTP2_ENST00000331706.4_Silent_p.L66L|MCTP2_ENST00000451018.3_Silent_p.L478L NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 478 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CGTCTCTGATCTGTGTGTCTG 0.547000 17 51 0 0 1 0 0 PRCC 5546 broad.mit.edu 37 1 156756563 156756563 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:156756563C>T ENST00000271526.4 + 3 952 c.680C>T c.(679-681)tCc>tTc p.S227F PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.S227F NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 227 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACCAAGACTTCCTCTCTTGCC 0.582000 T TFE3 papillary renal 21 79 0 0 1 0 0 LCMT1 51451 broad.mit.edu 37 16 25182072 25182072 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr16:25182072C>T ENST00000399069.3 + 9 985 c.830C>T c.(829-831)tCg>tTg p.S277L LCMT1_ENST00000380966.4_Missense_Mutation_p.S222L|LCMT1_ENST00000572869.1_3'UTR NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 277 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) GAAACAGCATCGGCCGTCGAC 0.493000 19 78 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62289614 62289614 + Nonsense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr11:62289614G>C ENST00000378024.4 - 5 12549 c.12275C>G c.(12274-12276)tCa>tGa p.S4092* AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4092 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) TTTGGGTCCTGAGACATCAAT 0.458000 52 195 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91772193 91772193 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr14:91772193G>A ENST00000389857.6 - 19 3359 c.3273C>T c.(3271-3273)agC>agT p.S1091S NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1091 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) AGATCTGGCTGCTGAAGGTCA 0.587000 16 25 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C T rs104894229 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr11:534289C>T ENST00000417302.1 - 2 221 c.34G>A c.(34-36)Ggc>Agc p.G12S HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12S(58)|p.G12C(25)|p.G12R(12) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCCACACCGCCGGCGCCCACC 0.647000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 45 36 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124353105 124353105 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr10:124353105C>T ENST00000368909.3 + 21 2627 c.2521C>T c.(2521-2523)Ccc>Tcc p.P841S DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.P831S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P831S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.P841S NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 841 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCGGCCGACACCCAGTCCAGG 0.517000 12 408 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644929 169644929 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr3:169644929G>A ENST00000428432.2 + 6 1268 c.879G>A c.(877-879)aaG>aaA p.K293K SAMD7_ENST00000335556.3_Silent_p.K293K NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 293 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GTGATGAAAAGAATGGGGTTT 0.547000 13 59 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767823 105767823 + Missense_Mutation SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr9:105767823G>T ENST00000374798.3 + 5 980 c.910G>T c.(910-912)Gcc>Tcc p.A304S CYLC2_ENST00000487798.1_Missense_Mutation_p.A304S NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 304 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.A304T(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) caagaaagttgccaagaaaga 0.388000 3 18 0.115264 0.115264 1 1 0 LRRC45 201255 broad.mit.edu 37 17 79982581 79982581 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:79982581C>T ENST00000306688.3 + 3 637 c.295C>T c.(295-297)Cgg>Tgg p.R99W LRRC45_ENST00000583383.1_3'UTR NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 99 centrosome p.R99W(1) lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CAACAACCTTCGGGCTGCAGG 0.622000 11 52 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109965828 109965828 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:109965828C>G ENST00000424296.2 - 9 899 c.823G>C c.(823-825)Gag>Cag p.E275Q AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.E275Q|AK9_ENST00000368948.2_Missense_Mutation_p.E275Q NM_001145128.2 NP_001138600.2 adenylate kinase 9 ATAAAGAGCTCCTCTGCTGGT 0.348000 12 87 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140301871 140301871 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr7:140301871C>G ENST00000275884.6 - 2 744 c.327G>C c.(325-327)gaG>gaC p.E109D DENND2A_ENST00000492720.1_Missense_Mutation_p.E109D|DENND2A_ENST00000496613.1_Missense_Mutation_p.E109D|DENND2A_ENST00000537639.1_Missense_Mutation_p.E109D Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 109 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CTTTATTCCTCTCCTTCTCTG 0.587000 58 177 0 0 1 0 0 RAX 30062 broad.mit.edu 37 18 56939841 56939841 + Nonsense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr18:56939841G>A ENST00000334889.3 - 2 481 c.295C>T c.(295-297)Cga>Tga p.R99* RAX_ENST00000256852.7_Intron NM_013435.2 NP_038463.2 Q9Y2V3 RX_HUMAN retina and anterior neural fold homeobox 99 visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Lung NSC(161;0.0804)|Colorectal(73;0.0946) STAD - Stomach adenocarcinoma(84;0.18) CAGTAGGGTCGAGGGGCTGGG 0.731000 8 27 0 0 1 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:28961033T>G ENST00000417404.1 + 0 1291 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA AGTTCCAGGATATGACTATAA 0.264000 3 29 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552368 1552368 + Missense_Mutation SNP C C G rs144175019 byFrequency TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr20:1552368C>G ENST00000381605.4 - 3 813 c.749G>C c.(748-750)cGa>cCa p.R250P SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 250 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TCTTCTACCTCGGATGGCCTC 0.597000 19 60 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238249328 238249328 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:238249328G>A ENST00000295550.4 - 38 8683 c.8231C>T c.(8230-8232)aCg>aTg p.T2744M COL6A3_ENST00000472056.1_Missense_Mutation_p.T2137M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2543M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2544M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2538M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2538M NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2744 Nonhelical region.|VWFA 12. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CACCTCGCCCGTCAGCATCAG 0.567000 21 62 0 0 1 0 0 C20orf24 55969 broad.mit.edu 37 20 35240503 35240503 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr20:35240503G>C ENST00000342422.3 + 3 439 c.309G>C c.(307-309)ttG>ttC p.L103F C20orf24_ENST00000344795.3_3'UTR|C20orf24_ENST00000373852.5_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR NM_199483.2 NP_955777.1 chromosome 20 open reading frame 24 breast(1)|kidney(1)|lung(2) 4 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GGACCCTCTTGATTACAGCAC 0.507000 78 307 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694586 153694586 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chrX:153694586G>A ENST00000369682.3 + 15 2947 c.2772G>A c.(2770-2772)acG>acA p.T924T NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 924 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTTCCGCACGCAGTCGGAGC 0.682000 7 148 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9466643 9466643 + Splice_Site SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr11:9466643G>C ENST00000379719.3 + 25 3161 c.e25-1 NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTGTTTTCTAGAATCCAAAAT 0.373000 19 50 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q 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 5 54 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9304252 9304252 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr12:9304252G>C ENST00000261336.2 - 33 4257 c.4229C>G c.(4228-4230)tCt>tGt p.S1410C PZP_ENST00000381997.2_Missense_Mutation_p.S1196C NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CCGGCTCACAGAGCTAGATCT 0.438000 5 34 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47091826 47091826 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr18:47091826C>G ENST00000261292.4 + 2 515 c.237C>G c.(235-237)ttC>ttG p.F79L LIPG_ENST00000577628.1_Missense_Mutation_p.F115L|LIPG_ENST00000580036.1_Missense_Mutation_p.F79L|LIPG_ENST00000427224.2_Missense_Mutation_p.F79L NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 79 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity p.F79L(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 ACTGCAGTTTCAACATGACAG 0.507000 20 58 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921116 24921116 + Silent SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:24921116G>T ENST00000329468.2 + 1 576 c.102G>T c.(100-102)ccG>ccT p.P34P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACGCCTCCCCGCCCGGTCGGG 0.716000 3 20 6.4e-05 6.46368e-05 1 1 0 SZT2 23334 broad.mit.edu 37 1 43892993 43892993 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr1:43892993C>G ENST00000562955.1 + 24 3304 c.3304C>G c.(3304-3306)Caa>Gaa p.Q1102E SZT2_ENST00000372442.1_Missense_Mutation_p.Q260E NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1159 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGGACCCCCTCAAGAGGAGAC 0.567000 12 70 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087204 47087204 + Missense_Mutation SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr10:47087204C>G ENST00000374312.1 + 3 840 c.421C>G c.(421-423)Cag>Gag p.Q141E NPY4R_ENST00000395716.1_Missense_Mutation_p.Q141E NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 GGAGAGGCATCAGCTCATCAT 0.582000 20 257 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 786324 786324 + Silent SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr16:786324C>G ENST00000540986.1 - 3 1510 c.75G>C c.(73-75)cgG>cgC p.R25R NARFL_ENST00000251588.2_Silent_p.R127R|NARFL_ENST00000568545.1_Silent_p.R25R|NARFL_ENST00000301694.5_Intron Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 127 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) TCAGCTGAAACCGTGCAGCCA 0.502000 26 71 0 0 1 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425945 71425945 + Missense_Mutation SNP C C T rs146534560 byFrequency TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chrX:71425945C>T ENST00000373657.1 - 3 2905 c.2303G>A c.(2302-2304)cGt>cAt p.R768H ERCC6L_ENST00000334463.3_Missense_Mutation_p.R891H|PIN4_ENST00000423432.2_Intron Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 891 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) ATTGCAATGACGTAAAATCTC 0.348000 12 31 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906452 5906452 + Missense_Mutation SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr11:5906452G>C ENST00000316987.2 + 1 952 c.930G>C c.(928-930)caG>caC p.Q310H NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q310H(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATTTGTACAGAAAGAATAAT 0.368000 24 36 0 0 1 0 0 ACOT8 10005 broad.mit.edu 37 20 44472992 44472992 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr20:44472992C>T ENST00000217455.4 - 4 646 c.556G>A c.(556-558)Gag>Aag p.E186K NM_005469.3 NP_005460.2 O14734 ACOT8_HUMAN acyl-CoA thioesterase 8 186 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding kidney(2)|large_intestine(3)|lung(4)|skin(1) 10 Myeloproliferative disorder(115;0.0122) GGCTTGATCTCAATGGGGACC 0.552000 14 48 0 0 1 0 0 CTD-2192J16.20 0 broad.mit.edu 37 19 12691749 12691749 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:12691749G>A ENST00000593682.1 - 1 40 c.41C>T c.(40-42)aCg>aTg p.T14M ZNF490_ENST00000311437.6_Silent_p.H380H p.H380H(1) GAGTTCTTTCGTGCACTTCAC 0.413000 23 63 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7976017 7976017 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr19:7976017G>A ENST00000545011.1 + 7 1019 c.954G>A c.(952-954)cgG>cgA p.R318R MAP2K7_ENST00000397983.3_Silent_p.R292R|MAP2K7_ENST00000397981.3_Silent_p.R276R|MAP2K7_ENST00000397979.3_Silent_p.R276R O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 276 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) CCAAGACGCGGAGCGCCGGCT 0.692000 5 32 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12905259 12905259 + Silent SNP G G C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chrX:12905259G>C ENST00000380659.3 + 3 1771 c.1632G>C c.(1630-1632)ctG>ctC p.L544L NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 544 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TAGCAGAGCTGAGATATTTGG 0.403000 82 323 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25464907 25464907 + Silent SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr10:25464907G>T ENST00000376351.3 + 1 917 c.558G>T c.(556-558)ccG>ccT p.P186P GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 186 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGTCCGCACCGGCCCCACAGG 0.672000 13 30 5.50884e-06 5.61957e-06 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 96 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8460435 8460435 + Missense_Mutation SNP A A G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr9:8460435A>G ENST00000381196.4 - 30 4394 c.3851T>C c.(3850-3852)gTc>gCc p.V1284A PTPRD_ENST00000540109.1_Missense_Mutation_p.V1284A|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1271A|PTPRD_ENST00000537002.1_Missense_Mutation_p.V870A|PTPRD_ENST00000397606.3_Missense_Mutation_p.V863A|PTPRD_ENST00000486161.1_Missense_Mutation_p.V873A|PTPRD_ENST00000397617.3_Missense_Mutation_p.V863A|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1262A|PTPRD_ENST00000397611.3_Missense_Mutation_p.V870A|PTPRD_ENST00000355233.5_Missense_Mutation_p.V873A|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1284A NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1284 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AATAGCAATGACAATGCAGAT 0.418000 TSP Lung(15;0.13) 11 167 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884890 23884890 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr14:23884890G>A ENST00000355349.3 - 35 5267 c.5105C>T c.(5104-5106)gCg>gTg p.A1702V CTD-2201G16.1_ENST00000557368.1_RNA NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1702 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCCTGCTCCGCCAGCTTCCG 0.637000 20 69 0 0 1 0 0 SPIRE1 56907 broad.mit.edu 37 18 12452302 12452302 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr18:12452302G>A ENST00000409402.4 - 16 2231 c.1964C>T c.(1963-1965)tCa>tTa p.S655L SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.S641L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.S444L|SPIRE1_ENST00000453447.2_Missense_Mutation_p.S521L NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 655 cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 GGGTTTTTCTGACCTCATACT 0.502000 9 43 0 0 1 0 0 ANKRD20A4 728747 broad.mit.edu 37 9 69423835 69423835 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr9:69423835G>A ENST00000357336.3 + 15 2412 c.2131G>A c.(2131-2133)Gag>Aag p.E711K NM_001098805.1 NP_001092275.1 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 711 breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2) 16 GGAAATGAAAGAGATGTATCA 0.398000 76 56 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179639753 179639753 + Missense_Mutation SNP G G A rs56851316 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr2:179639753G>A ENST00000589042.1 - 29 6909 c.6685C>T c.(6685-6687)Cac>Tac p.H2229Y TTN_ENST00000359218.5_Missense_Mutation_p.H2183Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2229Y|TTN_ENST00000360870.5_Missense_Mutation_p.H2229Y|TTN_ENST00000460472.2_Missense_Mutation_p.H2183Y|TTN_ENST00000342175.6_Missense_Mutation_p.H2183Y|TTN_ENST00000342992.6_Missense_Mutation_p.H2229Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1966 Ig-like 11. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGAGGAAGTGAACCTTTCTG 0.388000 7 77 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 33038269 33038269 + Missense_Mutation SNP G G T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chrX:33038269G>T ENST00000357033.4 - 2 286 c.80C>A c.(79-81)gCa>gAa p.A27E DMD_ENST00000288447.4_Missense_Mutation_p.A19E|DMD_ENST00000378677.2_Missense_Mutation_p.A23E NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 27 Actin-binding.|CH 1. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGAAAATTGTGCATTTACCCA 0.259000 6 22 2.0095e-06 2.06024e-06 1 1 0 INPPL1 3636 broad.mit.edu 37 11 71949125 71949125 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr11:71949125G>A ENST00000541756.1 + 27 3796 c.2866G>A c.(2866-2868)Gag>Aag p.E956K INPPL1_ENST00000538751.1_Missense_Mutation_p.E956K|INPPL1_ENST00000298229.2_Missense_Mutation_p.E1198K O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1198 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CGGGCTGGGCGAGGCAGGCAT 0.662000 OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 12 0 0 1 0 0 CLK3 1198 broad.mit.edu 37 15 74911679 74911679 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:74911679C>T ENST00000395066.3 + 2 1047 c.586C>T c.(586-588)Cgg>Tgg p.R196W CLK3_ENST00000348245.3_Missense_Mutation_p.R48W|CLK3_ENST00000345005.4_Missense_Mutation_p.R48W|CLK3_ENST00000352989.5_Missense_Mutation_p.R48W NM_001130028.1 NP_001123500.1 P49761 CLK3_HUMAN CDC-like kinase 3 196 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 ACGAAGATCTCGGTCCAGAAG 0.577000 31 88 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118635300 118635300 + Missense_Mutation SNP G G A rs138680595 byFrequency TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:118635300G>A ENST00000360388.4 + 8 1313 c.1112G>A c.(1111-1113)cGc>cAc p.R371H NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 371 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) AAGCAGTTCCGCAATCCTTCA 0.557000 23 147 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6175070 6175070 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:6175070G>A ENST00000264870.3 - 12 1755 c.1490C>T c.(1489-1491)aCt>aTt p.T497I NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 497 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) CATCAGGGCAGTTTCTAGGGC 0.453000 12 46 0 0 1 0 0 C20orf197 284756 broad.mit.edu 37 20 58645874 58645874 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr20:58645874G>A ENST00000313426.1 + 4 598 c.292G>A c.(292-294)Gct>Act p.A98T NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 98 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) ggtattaaaggctctgcaaag 0.473000 9 19 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43912090 43912090 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr17:43912090G>A ENST00000314537.5 + 13 1433 c.1208G>A c.(1207-1209)cGt>cAt p.R403H CRHR1_ENST00000577353.1_Missense_Mutation_p.R389H|CRHR1_ENST00000398285.3_Missense_Mutation_p.R432H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R363H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V257M|CRHR1_ENST00000293493.7_Missense_Mutation_p.R228H NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 432 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TCCCCAACCCGTGTCAGCTTT 0.642000 13 62 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434788 42434788 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr15:42434788C>T ENST00000397272.3 - 19 2364 c.2273G>A c.(2272-2274)cGc>cAc p.R758H PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R756H NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 756 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AATGGGGGAGCGGGGGTCCTC 0.632000 18 45 0 0 1 0 0 LOC101927237 101927237 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 3 3 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 10 95 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 4 9 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 4 5 --- --- --- --- OR1J2 26740 broad.mit.edu 37 9 125273990 125273991 + Frame_Shift_Del DEL CT CT - TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr9:125273990_125273991delCT ENST00000335302.5 + 1 910_911 c.910_911delCT c.(910-912)cfs p.L304fs NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CCTTGGGAAACTCTTCAGTAGA 0.391 26 90 --- --- --- --- MYPN 84665 broad.mit.edu 37 10 69921514 69921515 + Frame_Shift_Del DEL AG AG - TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr10:69921514_69921515delAG ENST00000373675.3 + 8 1717_1718 c.1488_1489delAG c.(1486-1491)aaatfs p.KD496fs MYPN_ENST00000354393.2_Intron|MYPN_ENST00000358913.5_Intron|MYPN_ENST00000540630.1_Intron Q86TC9 MYPN_HUMAN myopalladin 0 Ig-like 2.|Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGCCAGGTAAAGATGATTTCAA 0.287 7 57 --- --- --- --- SENP1 29843 broad.mit.edu 37 12 48458895 48458896 + Frame_Shift_Ins INS - - T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr12:48458895_48458896insT ENST00000004980.5 - 12 1705_1706 c.1227_1228insA c.(1225-1230)aagtcafs p.S410fs SENP1_ENST00000448372.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000549595.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000549518.1_Frame_Shift_Ins_p.S410fs Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 410 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity p.G410fs*3(1)|p.G410fs*4(1) large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) AATTTATGACCTTTTTTTTGTG 0.337 13 29 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bd5390d-c251-48ec-9235-11b49956a23c 6935113b-655c-4904-88cd-38a5965d83ef g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 3 6 --- --- --- ---