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 HIST1H2AL 8332 broad.mit.edu 37 6 27833185 27833185 + Missense_Mutation SNP G G C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr6:27833185G>C ENST00000357320.2 + 1 152 c.53G>C c.(52-54)cGc>cCc p.R18P NM_003511.2 NP_003502.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 18 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2) 9 GCCAAGACCCGCTCTTCTCGT 0.632000 54 57 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 31 35 0 0 1 0 0 THUMPD3 25917 broad.mit.edu 37 3 9412772 9412772 + Missense_Mutation SNP T T C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr3:9412772T>C ENST00000345094.3 + 4 693 c.359T>C c.(358-360)tTg>tCg p.L120S THUMPD3_ENST00000452837.2_Missense_Mutation_p.L120S|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L120S|SETD5-AS1_ENST00000468186.1_RNA NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 120 methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) TTTGAAGACTTGGCTGGAAAA 0.333000 28 89 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48697720 48697720 + Missense_Mutation SNP C C G TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr8:48697720C>G ENST00000314191.2 - 78 11114 c.11058G>C c.(11056-11058)atG>atC p.M3686I PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M3686I NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3687 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGAAGTCGCTCATCCAGGGTG 0.458000 Non-homologous end-joining 3 49 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55220476 55220476 + RNA SNP A A G TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr19:55220476A>G ENST00000413439.1 + 0 614 GGGACCCTGGATACCCAGGGT 0.582000 5 8 0 0 1 0 0 GPR21 2844 broad.mit.edu 37 9 125797418 125797418 + Silent SNP C C T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr9:125797418C>T ENST00000373642.1 + 1 613 c.573C>T c.(571-573)ttC>ttT p.F191F RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron NM_005294.1 NP_005285.1 Q99679 GPR21_HUMAN G protein-coupled receptor 21 191 integral to plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 15 ACTCCTACTTCACCCTGTTCA 0.502000 43 67 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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) 18 13 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170101387 170101387 + Silent SNP T T C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr2:170101387T>C ENST00000263816.3 - 22 3531 c.3246A>G c.(3244-3246)gcA>gcG p.A1082A LRP2_ENST00000443831.1_Silent_p.A945A NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1082 LDL-receptor class A 9. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGCGCCAGTGTGCAGGAATGC 0.507000 5 73 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407349 148407349 + Missense_Mutation SNP T T C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr5:148407349T>C ENST00000538184.1 - 7 1475 c.587A>G c.(586-588)cAc>cGc p.H196R SH3TC2_ENST00000512049.1_Missense_Mutation_p.H642R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.H534R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.H649R Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 649 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCTCCTCGTGCCGGCCTAG 0.642000 19 10 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 62014587 62014587 + Missense_Mutation SNP C C T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr14:62014587C>T ENST00000332981.5 + 13 2273 c.1888C>T c.(1888-1890)Cct>Tct p.P630S RP11-47I22.4_ENST00000556347.1_Silent_p.R134R|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.P469S NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 630 AGC-kinase C-terminal. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) AATAGAACCGCCTTTCAGACC 0.517000 5 125 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30890140 30890140 + Nonsense_Mutation SNP G G A rs141785416 TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr22:30890140G>A ENST00000392772.2 - 7 692 c.415C>T c.(415-417)Cga>Tga p.R139* SEC14L4_ENST00000540456.1_Nonsense_Mutation_p.R178*|SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.R193*|SEC14L4_ENST00000255858.7_Nonsense_Mutation_p.R193* Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 193 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity p.R193*(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GGCTTACCTCGAATAACAATT 0.483000 3 48 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143748010 143748010 + Missense_Mutation SNP T T A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr7:143748010T>A ENST00000408906.2 + 1 550 c.516T>A c.(514-516)caT>caA p.H172Q NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) GTGGGCCCCATGAAATCAACC 0.542000 43 182 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199680 4199680 + Missense_Mutation SNP C C T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr4:4199680C>T ENST00000296358.4 - 5 905 c.881G>A c.(880-882)cGc>cAc p.R294H NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 294 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GTCAACTTTGCGCCCGATGTT 0.562000 6 49 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385821 33385821 + Missense_Mutation SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr9:33385821G>A ENST00000537089.1 - 6 611 c.293C>T c.(292-294)aCg>aTg p.T98M AQP7_ENST00000541274.1_Silent_p.H58H|AQP7_ENST00000539936.1_Missense_Mutation_p.T190M|AQP7_ENST00000377425.4_Missense_Mutation_p.T133M O14520 AQP7_HUMAN aquaporin 7 190 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CTCCTGGTCCGTGATGGCGAA 0.612000 31 50 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57552342 57552342 + Missense_Mutation SNP C C G TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr12:57552342C>G ENST00000243077.3 + 11 2185 c.1719C>G c.(1717-1719)atC>atG p.I573M NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 573 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCGGCTTCATCTACTTTGCCG 0.577000 17 16 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150747946 150747946 + Missense_Mutation SNP C C A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr7:150747946C>A ENST00000357922.4 + 4 1509 c.915C>A c.(913-915)agC>agA p.S305R ASIC3_ENST00000349064.5_Missense_Mutation_p.S305R|ASIC3_ENST00000297512.8_Missense_Mutation_p.S305R NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 305 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity ccagccccagccccagcccTC 0.637000 5 11 0.014758 0.0156261 1 1 0 PPP2R5B 5526 broad.mit.edu 37 11 64699330 64699330 + Missense_Mutation SNP C C T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr11:64699330C>T ENST00000164133.2 + 11 1728 c.1106C>T c.(1105-1107)cCc>cTc p.P369L NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 369 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 GTTTCCAGCCCCCATTTCCAG 0.557000 7 31 0 0 1 0 0 ZDHHC11 79844 broad.mit.edu 37 5 843744 843744 + Missense_Mutation SNP C C A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr5:843744C>A ENST00000283441.8 - 4 982 c.599G>T c.(598-600)gGg>gTg p.G200V ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G200V|ZDHHC11_ENST00000511539.1_5'UTR NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 200 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GCGGAGCACCCCGGGGTTCAC 0.637000 3 16 0.150653 0.150653 1 1 0 ANKRD54 129138 broad.mit.edu 37 22 38227984 38227984 + Missense_Mutation SNP A A G TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr22:38227984A>G ENST00000215941.4 - 8 1061 c.869T>C c.(868-870)cTc>cCc p.L290P ANKRD54_ENST00000406423.1_Missense_Mutation_p.L170P|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Missense_Mutation_p.L274P NM_138797.2 NP_620152.1 Q6NXT1 ANR54_HUMAN ankyrin repeat domain 54 290 lung(1) 1 Melanoma(58;0.045) CTGCAGACTGAGGGAGGTGAA 0.602000 3 11 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 5 50 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 33 34 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919378 130919378 + Silent SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr12:130919378G>A ENST00000261655.4 - 11 2266 c.2103C>T c.(2101-2103)taC>taT p.Y701Y RIMBP2_ENST00000535703.1_Silent_p.Y609Y|RIMBP2_ENST00000536002.1_Silent_p.Y609Y NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 701 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CTGAGGCGGCGTACTGCCCCG 0.587000 19 20 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102339304 102339304 + Missense_Mutation SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chrX:102339304G>A ENST00000395065.3 - 3 418 c.317C>T c.(316-318)cCg>cTg p.P106L NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.P17L NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 106 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 GGTCCCATCCGGCATGTTCCC 0.473000 23 38 0 0 1 0 0 SGCE 8910 broad.mit.edu 37 7 94259039 94259039 + Missense_Mutation SNP G G C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr7:94259039G>C ENST00000415788.2 - 3 419 c.332C>G c.(331-333)cCa>cGa p.P111R SGCE_ENST00000265735.7_Missense_Mutation_p.P75R|SGCE_ENST00000447873.1_Missense_Mutation_p.P75R|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000445866.2_Missense_Mutation_p.P75R|SGCE_ENST00000428696.2_Missense_Mutation_p.P75R O43556 SGCE_HUMAN sarcoglycan, epsilon 75 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) ACCAGGTTTTGGGTAAGGTGG 0.333000 4 152 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170127551 170127551 + Missense_Mutation SNP G G T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr2:170127551G>T ENST00000263816.3 - 16 2468 c.2183C>A c.(2182-2184)aCc>aAc p.T728N LRP2_ENST00000443831.1_Intron NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 728 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATCTTCCTGGGTAGACAAGGT 0.438000 7 27 5.18039e-06 5.709e-06 1 1 0 CD72 971 broad.mit.edu 37 9 35616134 35616134 + Missense_Mutation SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr9:35616134G>A ENST00000396757.1 - 6 658 c.494C>T c.(493-495)gCg>gTg p.A165V CD72_ENST00000259633.4_Missense_Mutation_p.A165V|CD72_ENST00000490239.1_5'UTR P21854 CD72_HUMAN CD72 molecule 165 axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTGACTCTGCGCCAGCTCTCT 0.607000 19 58 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111559245 111559245 + Missense_Mutation SNP C C A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr2:111559245C>A ENST00000389811.4 + 8 788 c.564C>A c.(562-564)gaC>gaA p.D188E ACOXL_ENST00000439055.1_Missense_Mutation_p.D188E|ACOXL_ENST00000340561.4_Missense_Mutation_p.D188E Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 188 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 ATGGTGTGGACAATGGGATAT 0.453000 15 53 1.3612e-06 1.53135e-06 1 1 0 SATL1 340562 broad.mit.edu 37 X 84362924 84362924 + Missense_Mutation SNP G G C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chrX:84362924G>C ENST00000509231.1 - 1 1130 c.1051C>G c.(1051-1053)Cca>Gca p.P351A SATL1_ENST00000395409.3_Missense_Mutation_p.P164A|SATL1_ENST00000332921.5_Missense_Mutation_p.P164A Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 164 N-acetyltransferase. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 CGTTGCGGTGGACCTGGTTGG 0.542000 21 0 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162903987 162903987 + Missense_Mutation SNP C C T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr2:162903987C>T ENST00000360534.3 - 3 679 c.119G>A c.(118-120)cGc>cAc p.R40H NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 40 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) GTAAGTTTTGCGACTGTCAGC 0.343000 3 36 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7522118 7522118 + Missense_Mutation SNP C C A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr12:7522118C>A ENST00000313599.3 - 15 3931 c.3874G>T c.(3874-3876)Gct>Tct p.A1292S CD163L1_ENST00000396630.1_Missense_Mutation_p.A1292S|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1302S Q9NR16 C163B_HUMAN CD163 molecule-like 1 1292 SRCR 12. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GCAGCCAGAGCAGAGCCACAG 0.592000 6 128 0.0215528 0.0223817 1 1 0 TEK 7010 broad.mit.edu 37 9 27157891 27157891 + Missense_Mutation SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr9:27157891G>A ENST00000380036.4 + 2 557 c.115G>A c.(115-117)Gaa>Aaa p.E39K TEK_ENST00000406359.4_Missense_Mutation_p.E39K|TEK_ENST00000519097.1_Intron NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 39 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ATCTGATGCTGAAACATCTCT 0.478000 19 83 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57552234 57552234 + Silent SNP C C T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr12:57552234C>T ENST00000243077.3 + 11 2077 c.1611C>T c.(1609-1611)atC>atT p.I537I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 537 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGCCAGGCATCATCCGGGGCA 0.592000 16 22 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14340397 14340397 + Missense_Mutation SNP T T C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr16:14340397T>C ENST00000571589.1 + 12 1452 c.1280T>C c.(1279-1281)aTt>aCt p.I427T MKL2_ENST00000574045.1_Missense_Mutation_p.I427T|MKL2_ENST00000318282.5_Missense_Mutation_p.I427T|MKL2_ENST00000341243.5_Missense_Mutation_p.I416T NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 416 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCGGACCTCATTGAGCGCCTA 0.507000 8 42 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4540428 4540428 + Silent SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr17:4540428G>A ENST00000570836.1 - 8 1029 c.933C>T c.(931-933)ctC>ctT p.L311L ALOX15_ENST00000574640.1_Silent_p.L272L|ALOX15_ENST00000293761.3_Silent_p.L311L|ALOX15_ENST00000545513.1_Silent_p.L333L P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 311 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CCATGGGCAAGAGTTTCCCAT 0.522000 8 55 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74442136 74442136 + Missense_Mutation SNP A A G TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr4:74442136A>G ENST00000307439.5 - 10 1223 c.929T>C c.(928-930)aTa>aCa p.I310T RASSF6_ENST00000342081.3_Missense_Mutation_p.I342T|RASSF6_ENST00000335049.5_Missense_Mutation_p.I298T|RASSF6_ENST00000395777.2_Missense_Mutation_p.I276T NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 342 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CTTTGTTACTATTCTTTGAAT 0.328000 3 56 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659536 24659536 + RNA SNP C C T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr22:24659536C>T ENST00000414583.2 + 0 3061 NR_003714.1 GATCTCATCGCGGACACCACT 0.512000 3 18 0 0 1 0 0 SCNN1A 0 broad.mit.edu 37 12 6457372 6457372 + Silent SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr12:6457372G>A ENST00000358945.3 - 13 2183 c.1743C>T c.(1741-1743)ttC>ttT p.F581F SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000228916.2_Silent_p.F559F|SCNN1A_ENST00000540037.1_Silent_p.F259F|SCNN1A_ENST00000543768.1_Silent_p.F582F P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 559 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) CCGAGGAGCCGAACCACAGGC 0.567000 30 63 0 0 1 0 0 DPT 1805 broad.mit.edu 37 1 168698267 168698267 + Missense_Mutation SNP T T C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr1:168698267T>C ENST00000367817.3 - 1 235 c.146A>G c.(145-147)cAg>cGg p.Q49R NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 49 2 X 53-55 AA tandem repeats. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) CTGGGGACACTGGTAGCTGAA 0.552000 5 71 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52715004 52715004 + Missense_Mutation SNP C C T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr12:52715004C>T ENST00000293670.3 - 1 178 c.116G>A c.(115-117)gGc>gAc p.G39D NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 39 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCAGGAGATGCCGCGGTAGGG 0.706000 8 1005 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41601812 41601812 + Missense_Mutation SNP C C A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr19:41601812C>A ENST00000330436.3 + 9 1451 c.1451C>A c.(1450-1452)cCa>cAa p.P484Q NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 484 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GCCACGATCCCACGAAACTAC 0.632000 18 74 4.35082e-09 5.10748e-09 1 1 0 VPS13B 157680 broad.mit.edu 37 8 100533211 100533211 + Missense_Mutation SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr8:100533211G>A ENST00000358544.2 + 30 4904 c.4793G>A c.(4792-4794)aGa>aAa p.R1598K VPS13B_ENST00000357162.2_Missense_Mutation_p.R1573K|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1598 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCCCTTGGCAGATCTGTCCTT 0.403000 9 56 0 0 1 0 0 GALNT1 2589 broad.mit.edu 37 18 33243711 33243711 + Missense_Mutation SNP A A G TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr18:33243711A>G ENST00000269195.5 + 2 362 c.259A>G c.(259-261)Atg>Gtg p.M87V GALNT1_ENST00000537549.1_Missense_Mutation_p.M27V|GALNT1_ENST00000591081.1_Missense_Mutation_p.M87V NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 87 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 GTTCAATTTAATGGCAAGTGA 0.378000 13 47 0 0 1 0 0 WFDC8 90199 broad.mit.edu 37 20 44184381 44184381 + Missense_Mutation SNP A A T TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr20:44184381A>T ENST00000357199.4 - 4 482 c.404T>A c.(403-405)tTc>tAc p.F135Y WFDC8_ENST00000289953.2_Missense_Mutation_p.F135Y NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 135 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) CTCATTTAAGAAGTTGTTGGC 0.443000 4 70 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17675524 17675524 + Missense_Mutation SNP T T C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr6:17675524T>C ENST00000262077.2 - 4 658 c.659A>G c.(658-660)cAg>cGg p.Q220R NUP153_ENST00000537253.1_Missense_Mutation_p.Q220R NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 220 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGCAGTGTGCTGTGAGAGTGA 0.418000 30 32 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036883 32036883 + Missense_Mutation SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr6:32036883G>A ENST00000375244.3 - 16 5819 c.5618C>T c.(5617-5619)aCg>aTg p.T1873M TNXB_ENST00000375247.2_Missense_Mutation_p.T1873M P22105 TENX_HUMAN tenascin XB 1955 Fibronectin type-III 11. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGTCGGGGCCGTGGTCTCAGT 0.622000 10 43 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 879504 879505 + Frame_Shift_Ins INS - - C TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr1:879504_879505insC ENST00000342066.3 + 14 2100_2101 c.2017_2018insC c.(2017-2019)cccfs p.P673fs NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 673 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACTTCCAGGGGCCCCCGACCCT 0.653 11 113 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109293 145109294 + RNA INS - - A rs7364468 TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr1:145109293_145109294insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding caaaaaaaaagaaaaaaaaaaa 0.431 2 4 --- --- --- --- S100A7A 338324 broad.mit.edu 37 1 153391722 153391726 + Frame_Shift_Del DEL CATAG CATAG - rs112079848 TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr1:153391722_153391726delCATAG ENST00000368729.4 + 3 300_304 c.243_247delCATAG c.(241-249)gaccfs p.DIA81fs S100A7A_ENST00000368728.2_Frame_Shift_Del_p.DIA81fs|S100A7A_ENST00000329256.2_Frame_Shift_Del_p.DIA81fs NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 81 EF-hand 2. cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGCTGGGAGACATAGCCGCAGACTA 0.517 20 40 --- --- --- --- IGKV1D-16 0 broad.mit.edu 37 2 90139264 90139264 + RNA DEL T T - TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr2:90139264delT ENST00000492446.1 + 0 82 TGGACATTTGTTTTTATGTTT 0.443 59 87 --- --- --- --- RP11-571L19.7 0 broad.mit.edu 37 4 99877753 99877754 + RNA DEL AA AA - rs33952764 TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr4:99877753_99877754delAA ENST00000583654.1 + 0 237 actctgtctcaaaaaaaaaaaa 0.450 2 4 --- --- --- --- GARS 2617 broad.mit.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr7:30634583_30634585delCTG ENST00000389266.3 + 1 287_289 c.46_48delCTG c.(46-48)del p.L20del NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 20 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TCGCGCCGCTCTGCTGCTGCTGC 0.749 3 5 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 8 79 --- --- --- --- SLC12A9 56996 broad.mit.edu 37 7 100463503 100463504 + Frame_Shift_Ins INS - - C rs149306595 byFrequency TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr7:100463503_100463504insC ENST00000354161.3 + 14 2146_2147 c.2021_2022insC c.(2020-2022)accfs p.T674fs NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 674 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) GCTCCTGGGAGCCCCCGGGCCC 0.678 8 44 --- --- --- --- CELP 0 broad.mit.edu 37 9 135962465 135962465 + RNA DEL T T - rs63239560 TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr9:135962465delT ENST00000411440.2 + 0 972 NR_001275.2 AGGATGCCCCTGTGCCCCTCA 0.677 4 5 --- --- --- --- ABCA17P 0 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 7 51 --- --- --- --- AP1M2 10053 broad.mit.edu 37 19 10685148 10685148 + Frame_Shift_Del DEL A A - TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chr19:10685148delA ENST00000590923.1 - 11 1283 c.1200delT c.(1198-1200)atfs p.I400fs AP1M2_ENST00000250244.6_Frame_Shift_Del_p.I398fs Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 398 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CACTTTTCTCAATGATCTTCA 0.582 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76920170 76920173 + Frame_Shift_Del DEL TTCT TTCT - TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chrX:76920170_76920173delTTCT ENST00000373344.5 - 11 4118_4121 c.3904_3907delAGAA c.(3904-3909)ctfs p.RT1302fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RT1264fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1302 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGTTTTCCAGTTCTTTTTTTCCCT 0.377 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 69 3 --- --- --- --- ZFP92 139735 broad.mit.edu 37 X 152686423 152686423 + Frame_Shift_Del DEL G G - TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7095e40-74eb-4208-bc64-b2e977c95224 3f955092-ccb9-4616-b97b-d03c9d818f3c g.chrX:152686423delG ENST00000338647.5 + 4 589 c.588delG c.(586-588)ctfs p.L196fs NM_001136273.1 NP_001129745.1 A6NM28 ZFP92_HUMAN ZFP92 zinc finger protein 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(4) 6 TCGCGCTCCTGGAGCACCAGC 0.637 2 4 --- --- --- ---