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 OR7E24 26648 broad.mit.edu 37 19 9361848 9361848 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:9361848G>A ENST00000456448.1 + 1 243 c.129G>A c.(127-129)ccG>ccA p.P43P NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 AACTGCAGCCGGTCCTCGCTG 0.572000 21 46 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39750786 39750786 + Missense_Mutation SNP C C G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr1:39750786C>G ENST00000564288.1 + 12 1940 c.1163C>G c.(1162-1164)cCt>cGt p.P388R MACF1_ENST00000539005.1_Missense_Mutation_p.P393R|MACF1_ENST00000545844.1_Missense_Mutation_p.P393R|MACF1_ENST00000567887.1_Missense_Mutation_p.P425R|MACF1_ENST00000361689.2_Missense_Mutation_p.P393R|MACF1_ENST00000317713.7_Missense_Mutation_p.P393R|MACF1_ENST00000372915.3_Missense_Mutation_p.P393R Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 393 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATTAAACTGCCTCAAGGTTAT 0.448000 26 40 0 0 1 0 0 CS 1431 broad.mit.edu 37 12 56667543 56667543 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:56667543G>A ENST00000548567.1 - 11 1330 c.860C>T c.(859-861)aCt>aTt p.T287I CS_ENST00000542324.2_Missense_Mutation_p.T340I|CS_ENST00000351328.3_Missense_Mutation_p.T353I O75390 CISY_HUMAN citrate synthase 353 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) TCGCGGATCAGTCTTCCTTAG 0.428000 26 43 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36917639 36917639 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr7:36917639G>A ENST00000310758.4 - 19 2445 c.1798C>T c.(1798-1800)Ccc>Tcc p.P600S ELMO1_ENST00000442504.1_Missense_Mutation_p.P600S|ELMO1_ENST00000341056.3_Missense_Mutation_p.P302S|ELMO1_ENST00000448602.1_Missense_Mutation_p.P600S|ELMO1_ENST00000396040.2_Missense_Mutation_p.P120S|ELMO1_ENST00000396045.3_Missense_Mutation_p.P120S NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 600 PH. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GAATCGTGGGGCACTTCTCCC 0.478000 10 14 0 0 1 0 0 IGLV4-3 28786 broad.mit.edu 37 22 23214159 23214159 + RNA SNP G G C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr22:23214159G>C ENST00000390318.2 + 0 348 GTCTGACGATGAGGCTGAGTA 0.587000 23 48 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42855535 42855535 + Missense_Mutation SNP A A G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:42855535A>G ENST00000200557.6 + 25 2370 c.2201A>G c.(2200-2202)aAc>aGc p.N734S ADAM11_ENST00000535346.1_Missense_Mutation_p.N534S NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 734 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) AGCGGCACCAACATCATCATT 0.622000 11 28 0 0 1 0 0 BBS12 166379 broad.mit.edu 37 4 123663261 123663261 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr4:123663261G>A ENST00000542236.1 + 3 595 c.214G>A c.(214-216)Gaa>Aaa p.E72K BBS12_ENST00000314218.3_Missense_Mutation_p.E72K NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 72 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 ACTTCTCAATGAAGCAGTTCA 0.368000 Bardet-Biedl syndrome 24 32 0 0 1 0 0 ZNF583 147949 broad.mit.edu 37 19 56934898 56934898 + Missense_Mutation SNP A A G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:56934898A>G ENST00000333201.9 + 5 1081 c.871A>G c.(871-873)Act>Gct p.T291A ZNF583_ENST00000291598.7_Missense_Mutation_p.T291A|ZNF583_ENST00000585612.1_3'UTR NM_001159861.1|NM_152478.2 NP_001153333.1|NP_689691.2 Q96ND8 ZN583_HUMAN zinc finger protein 583 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) GAGAGTTCATACTGGAGAGAA 0.423000 8 38 0 0 1 0 0 CCDC81 60494 broad.mit.edu 37 11 86133744 86133744 + Missense_Mutation SNP G G A rs148799450 TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr11:86133744G>A ENST00000278487.3 + 14 2230 c.1151G>A c.(1150-1152)cGg>cAg p.R384Q CCDC81_ENST00000354755.1_Missense_Mutation_p.R559Q|CCDC81_ENST00000445632.2_Missense_Mutation_p.R649Q|CCDC81_ENST00000528728.1_Missense_Mutation_p.R384Q Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 649 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) CCTGGCTCCCGGTTGCTTGTG 0.507000 13 5 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120591081 120591081 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:120591081C>T ENST00000300648.6 - 33 4010 c.3998G>A c.(3997-3999)aGt>aAt p.S1333N NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1333 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTTGGGGTCACTCTTGTCCAG 0.592000 17 24 0 0 1 0 0 NEMF 9147 broad.mit.edu 37 14 50267223 50267223 + Missense_Mutation SNP A A T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr14:50267223A>T ENST00000298310.5 - 23 2736 c.2287T>A c.(2287-2289)Tct>Act p.S763T NEMF_ENST00000546046.1_Missense_Mutation_p.S742T|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.S721T O60524 NEMF_HUMAN nuclear export mediator factor 763 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 TCACCAACAGAATCCTGATCT 0.388000 8 22 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763469 44763469 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr3:44763469C>T ENST00000296091.4 + 4 1416 c.1160C>T c.(1159-1161)gCg>gTg p.A387V ZNF502_ENST00000436624.2_Missense_Mutation_p.A387V|ZNF502_ENST00000449836.1_Missense_Mutation_p.A387V NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TGTGGCAAAGCGTTTACTCAG 0.413000 12 11 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32132507 32132507 + Missense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr10:32132507G>T ENST00000375250.5 - 7 1419 c.1178C>A c.(1177-1179)gCt>gAt p.A393D ARHGAP12_ENST00000375245.4_Missense_Mutation_p.A346D|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.A346D|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.A393D|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.A393D NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 393 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) CTGGGATGAAGCATTATACTA 0.353000 3 6 0.115264 0.115264 1 1 0 CCDC147 159686 broad.mit.edu 37 10 106153204 106153204 + Nonsense_Mutation SNP C C T rs138726534 byFrequency TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr10:106153204C>T ENST00000369704.3 + 11 1779 c.1645C>T c.(1645-1647)Cga>Tga p.R549* NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 549 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GGAACAGCAGCGAATAGAAAA 0.458000 8 18 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133667531 133667531 + Missense_Mutation SNP G G C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr3:133667531G>C ENST00000310926.4 - 8 1227 c.954C>G c.(952-954)atC>atG p.I318M SLCO2A1_ENST00000493729.1_Missense_Mutation_p.I242M NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 318 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GCCTCAGAAAGATGCATGGAA 0.587000 45 54 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69633615 69633615 + Silent SNP A A G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr8:69633615A>G ENST00000337103.4 + 9 2606 c.1014A>G c.(1012-1014)gaA>gaG p.E338E C8orf34_ENST00000325233.3_Silent_p.E107E|C8orf34_ENST00000539993.1_Silent_p.E363E|C8orf34_ENST00000518698.1_Silent_p.E449E Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 363 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CTGGGACTGAAGAAGCACTAA 0.294000 8 26 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10228273 10228273 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr1:10228273C>T ENST00000377157.3 + 23 3604 c.2543C>T c.(2542-2544)aCc>aTc p.T848I UBE4B_ENST00000253251.8_Missense_Mutation_p.T964I|UBE4B_ENST00000343090.6_Missense_Mutation_p.T1093I NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 1093 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GCCACCGAAACCGTGGACATG 0.577000 19 21 0 0 1 0 0 PDK4 5166 broad.mit.edu 37 7 95222092 95222092 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr7:95222092C>T ENST00000005178.5 - 4 706 c.509G>A c.(508-510)cGg>cAg p.R170Q NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 170 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) CATCAGCATCCGAGTAGAAAT 0.368000 9 57 0 0 1 0 0 UGT1A8 54576 broad.mit.edu 37 2 234526741 234526741 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr2:234526741G>A ENST00000373450.4 + 1 451 c.388G>A c.(388-390)Gac>Aac p.D130N NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTGTTTAATGACCGAAAATT 0.343000 22 50 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49661371 49661371 + Missense_Mutation SNP C C G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr10:49661371C>G ENST00000249601.4 - 8 1260 c.964G>C c.(964-966)Gag>Cag p.E322Q ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E338Q|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E163Q|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E213Q|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E232Q|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E328Q NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 322 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACTGGGTCCTCTACCTGTGGC 0.537000 14 26 0 0 1 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137089538 137089538 + Missense_Mutation SNP T T A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr5:137089538T>A ENST00000314940.4 - 1 501 c.218A>T c.(217-219)gAc>gTc p.D73V NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 73 RRM 1. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGTGTTGCCGTCCACGGCATG 0.647000 35 62 0 0 1 0 0 IVD 3712 broad.mit.edu 37 15 40710407 40710407 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr15:40710407C>T ENST00000249760.2 + 12 1560 c.1217C>T c.(1216-1218)aCc>aTc p.T406I IVD_ENST00000479013.2_Missense_Mutation_p.T379I|IVD_ENST00000487418.2_Missense_Mutation_p.T409I NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 406 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) GGGGCTGGGACCAGCGAGGTG 0.562000 19 58 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2815821 2815821 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr16:2815821G>A ENST00000301740.8 + 11 5841 c.5292G>A c.(5290-5292)tcG>tcA p.S1764S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1764 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCTCTCCTTCGCCAAAGCCTC 0.572000 17 32 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579378 7579378 + Nonsense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:7579378G>T ENST00000420246.2 - 4 441 c.309C>A c.(307-309)taC>taA p.Y103* TP53_ENST00000445888.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y103* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 103 Interaction with HIPK1 (By similarity).|Interaction with WWOX. 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.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGCTGCCCTGGTAGGTTTTCT 0.637000 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) 43 60 5.59293e-11 6.07508e-11 1 1 0 MDGA2 161357 broad.mit.edu 37 14 47530616 47530616 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr14:47530616C>T ENST00000426342.1 - 7 1213 c.467G>A c.(466-468)cGg>cAg p.R156Q MDGA2_ENST00000399232.2_Missense_Mutation_p.R454Q|MDGA2_ENST00000439988.2_Missense_Mutation_p.R385Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 385 Ig-like 2. spinal cord motor neuron differentiation anchored to membrane|plasma membrane p.R156Q(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 AATGACCATCCGCTCAGAACT 0.418000 26 40 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151856002 151856002 + Silent SNP T T C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr7:151856002T>C ENST00000355193.2 - 44 11834 c.11616A>G c.(11614-11616)gaA>gaG p.E3872E KMT2C_ENST00000262189.6_Silent_p.E3872E lysine (K)-specific methyltransferase 2C GTTTCTCCTCTTCGTCCTTTT 0.453000 87 43 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158223376 158223376 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr5:158223376C>T ENST00000313708.6 - 9 1168 c.886G>A c.(886-888)Ggt>Agt p.G296S EBF1_ENST00000517373.1_Missense_Mutation_p.G288S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.G265S NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 296 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCATGGTACCGAATATGACC 0.428000 T HMGA2 lipoma 5 43 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3742511 3742511 + Splice_Site SNP T T C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr18:3742511T>C ENST00000315677.3 - 6 1769 c.1172_splice c.e6-1 p.I392_splice DLGAP1_ENST00000400155.1_Splice_Site_p.I98_splice|DLGAP1_ENST00000400149.3_Splice_Site_p.I100_splice|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Splice_Site_p.I392_splice|DLGAP1_ENST00000400147.2_Splice_Site_p.I90_splice|DLGAP1_ENST00000400150.3_Splice_Site_p.I98_splice|DLGAP1_ENST00000534970.1_Splice_Site_p.I104_splice|DLGAP1_ENST00000584874.1_Splice_Site_p.I392_splice|DLGAP1_ENST00000400145.2_Splice_Site_p.I90_splice|DLGAP1_ENST00000539435.1_Splice_Site_p.I90_splice|DLGAP1_ENST00000581699.1_Splice_Site_p.I98_splice|DLGAP1_ENST00000515196.2_Splice_Site_p.I392_splice NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 392 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TCATTGGAGATTCTGGAAGGG 0.473000 7 54 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64518417 64518417 + Silent SNP T T C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr14:64518417T>C ENST00000358025.3 + 48 8016 c.7786T>C c.(7786-7788)Ttg>Ctg p.L2596L SYNE2_ENST00000554584.1_Silent_p.L2629L|SYNE2_ENST00000344113.4_Silent_p.L2596L|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2596 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAAGAAATTGTTGGAAAGCCA 0.358000 18 15 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68049788 68049788 + Missense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr8:68049788G>T ENST00000262210.5 + 15 1941 c.1910G>T c.(1909-1911)gGa>gTa p.G637V CSPP1_ENST00000412460.1_Missense_Mutation_p.G343V NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 672 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AATCCCTGGGGAAAAGGTGGA 0.343000 4 6 1.23904e-05 1.29024e-05 1 1 0 PKD1L2 114780 broad.mit.edu 37 16 81181018 81181018 + RNA SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr16:81181018G>A ENST00000525539.1 - 0 5072 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCACCAAGGCGAGGAGACTGT 0.517000 17 58 0 0 1 0 0 DET1 55070 broad.mit.edu 37 15 89056289 89056289 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr15:89056289G>A ENST00000564406.1 - 6 1739 c.1579C>T c.(1579-1581)Cgc>Tgc p.R527C DET1_ENST00000268148.8_Missense_Mutation_p.R516C|DET1_ENST00000444300.1_Missense_Mutation_p.R527C NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 516 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GCAACAAGGCGTCGCACTGTG 0.517000 11 23 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305114 61305114 + Missense_Mutation SNP C C T rs141049494 TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr18:61305114C>T ENST00000341074.5 - 8 1127 c.1012G>A c.(1012-1014)Gag>Aag p.E338K SERPINB4_ENST00000356424.6_Missense_Mutation_p.E286K NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 ACTCCCTCCTCAGTGACCTCC 0.483000 30 14 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48396241 48396241 + Missense_Mutation SNP A A C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr16:48396241A>C ENST00000380006.2 - 1 1552 c.99T>G c.(97-99)aaT>aaG p.N33K SIAH1_ENST00000356721.3_Missense_Mutation_p.N64K|SIAH1_ENST00000394725.2_Missense_Mutation_p.N33K Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 33 axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) TCGCCAAGTCATTGTTGGATG 0.512000 17 25 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72593061 72593061 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr18:72593061G>A ENST00000299687.5 + 5 5114 c.5114G>A c.(5113-5115)cGc>cAc p.R1705H ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Missense_Mutation_p.R1705H NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1705 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ACCAAGCATCGCAGACAGCAC 0.567000 2 1 0 0 1 0 0 NUS1 116150 broad.mit.edu 37 6 118028143 118028143 + Nonsense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr6:118028143C>T ENST00000368494.3 + 5 1016 c.847C>T c.(847-849)Caa>Taa p.Q283* NM_138459.3 NP_612468.1 Q96E22 NGBR_HUMAN nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) 283 angiogenesis|cell differentiation integral to membrane receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2) 8 all_cancers(87;0.0395)|all_epithelial(87;0.0301) GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146) TGCCCTTCGTCAATATGCAGC 0.438000 26 22 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41958856 41958856 + Silent SNP G G A rs76832034 byFrequency TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:41958856G>A ENST00000269095.4 - 7 1087 c.783C>T c.(781-783)atC>atT p.I261I MPP2_ENST00000523501.1_Silent_p.I250I|MPP2_ENST00000518766.1_Silent_p.I306I|MPP2_ENST00000461854.1_Silent_p.I285I|MPP2_ENST00000377184.3_Silent_p.I278I|MPP2_ENST00000536246.1_Silent_p.I250I|MPP2_ENST00000520305.1_Silent_p.I122I NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 285 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCTGGTTTACGATCTGGAGCA 0.607000 44 68 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104142867 104142867 + Missense_Mutation SNP T T C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:104142867T>C ENST00000388887.2 + 59 6575 c.6371T>C c.(6370-6372)aTa>aCa p.I2124T RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2124 EGF-like 17. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGCACAGAGATAGACCCCTGT 0.607000 26 36 0 0 1 0 0 CCNF 899 broad.mit.edu 37 16 2498953 2498953 + Missense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr16:2498953G>T ENST00000397066.4 + 11 1280 c.1192G>T c.(1192-1194)Gtc>Ttc p.V398F NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 398 Cyclin N-terminal. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) GGGCGAGATCGTCTCCGCCTT 0.522000 33 60 2.85442e-18 3.21122e-18 1 1 0 SLC17A6 57084 broad.mit.edu 37 11 22382523 22382523 + Silent SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr11:22382523C>T ENST00000263160.3 + 5 1091 c.654C>T c.(652-654)tcC>tcT p.S218S NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 218 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 CAACCACCTCCTTTTGTGGTG 0.463000 16 16 0 0 1 0 0 ATMIN 23300 broad.mit.edu 37 16 81078035 81078035 + Silent SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr16:81078035C>T ENST00000566488.1 + 3 2427 c.1464C>T c.(1462-1464)gcC>gcT p.A488A ATMIN_ENST00000299575.4_Silent_p.A644A|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Silent_p.A488A O43313 ATMIN_HUMAN ATM interactor 644 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 TCTTTTCGGCCTCAAATATCC 0.493000 20 32 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20093767 20093767 + Missense_Mutation SNP C C G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr22:20093767C>G ENST00000351989.3 + 10 2285 c.1856C>G c.(1855-1857)tCt>tGt p.S619C DGCR8_ENST00000383024.2_Missense_Mutation_p.S586C|DGCR8_ENST00000407755.1_Missense_Mutation_p.S586C NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 619 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) GGGCTGTTGTCTCCATATCAG 0.557000 23 31 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2996005 2996005 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:2996005C>T ENST00000331459.1 - 1 285 c.286G>A c.(286-288)Ggg>Agg p.G96R NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 96 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 GTCAGACACCCTGCATAGGAG 0.547000 45 87 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190949 42190949 + Missense_Mutation SNP T T A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:42190949T>A ENST00000006724.3 - 2 469 c.268A>T c.(268-270)Aat>Tat p.N90Y CEACAM7_ENST00000602225.1_Missense_Mutation_p.N90Y|CEACAM7_ENST00000338196.4_Missense_Mutation_p.N90Y|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N90Y NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 90 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CCTGGGGCATTTTCTTGACTT 0.453000 46 72 0 0 1 0 0 SLC7A11 23657 broad.mit.edu 37 4 139104420 139104420 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr4:139104420C>T ENST00000280612.5 - 8 1234 c.955G>A c.(955-957)Gtt>Att p.V319I NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 319 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) AAGATCGGAACTGCTAATGAG 0.428000 5 13 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30732996 30732996 + Missense_Mutation SNP C C T rs104893809 TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr3:30732996C>T ENST00000295754.5 + 7 1991 c.1609C>T c.(1609-1611)Cgc>Tgc p.R537C TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 537 Protein kinase. R -> C (in LDS2B; has a negative effect on TGF-beta signaling; dbSNP:rs28934869). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.R537C(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 TGTGGCAGAACGCTTCAGTGA 0.577000 28 19 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48382145 48382145 + Silent SNP C C G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr10:48382145C>G ENST00000224600.4 - 4 3617 c.3504G>C c.(3502-3504)ggG>ggC p.G1168G NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1168 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGGTCACCTCCCCAATGACCA 0.627000 22 31 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118433712 118433712 + Silent SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr5:118433712C>T ENST00000311085.8 + 2 206 c.126C>T c.(124-126)agC>agT p.S42S DMXL1_ENST00000539542.1_Silent_p.S42S NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 42 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TACTGGGAAGCGATTTTGAAA 0.333000 9 13 0 0 1 0 0 TOP2B 7155 broad.mit.edu 37 3 25639957 25639957 + Missense_Mutation SNP C C G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr3:25639957C>G ENST00000435706.2 - 36 4908 c.4707G>C c.(4705-4707)aaG>aaC p.K1569N TOP2B_ENST00000264331.4_Missense_Mutation_p.K1574N|TOP2B_ENST00000540199.1_Missense_Mutation_p.K426N|TOP2B_ENST00000542520.1_Missense_Mutation_p.K426N Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1574 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 CAAAAGATGTCTTCTTCGGTT 0.388000 6 7 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400669 78400669 + Missense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:78400669G>T ENST00000397909.2 + 8 1524 c.1351G>T c.(1351-1353)Gct>Tct p.A451S NAV3_ENST00000536525.2_Missense_Mutation_p.A451S|NAV3_ENST00000228327.6_Missense_Mutation_p.A451S|NAV3_ENST00000266692.7_Missense_Mutation_p.A451S Q8IVL0 NAV3_HUMAN neuron navigator 3 451 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CCCTCCAAAAGCTGGAAGCAA 0.398000 HNSCC(70;0.22) 25 29 9.86323e-18 1.09979e-17 1 1 0 NLRP2 55655 broad.mit.edu 37 19 55496450 55496450 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:55496450C>T ENST00000543010.1 + 7 2209 c.2066C>T c.(2065-2067)aCg>aTg p.T689M NLRP2_ENST00000537859.1_Missense_Mutation_p.T667M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T665M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T665M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T689M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T666M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T686M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T667M NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 689 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CCTTTCTGGACGGACCTTTGT 0.438000 26 45 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50893742 50893742 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr22:50893742G>A ENST00000380817.2 - 33 4648 c.4465C>T c.(4465-4467)Cgc>Tgc p.R1489C SBF1_ENST00000390679.3_Missense_Mutation_p.R1463C|SBF1_ENST00000348911.6_Missense_Mutation_p.R1464C NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1463 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) TGGCTGAAGCGATGGCCGAAG 0.647000 18 34 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783634 149783634 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr1:149783634G>A ENST00000427880.2 - 1 291 c.245C>T c.(244-246)gCg>gTg p.A82V HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.A82V|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.A82V|HIST2H2BF_ENST00000469483.1_5'UTR Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 82 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) GTTGTAGTGCGCCAGGCGGGA 0.667000 36 62 0 0 1 0 0 FBXW4 6468 broad.mit.edu 37 10 103371394 103371394 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr10:103371394G>A ENST00000331272.7 - 8 1728 c.1110C>T c.(1108-1110)gcC>gcT p.A370A FBXW4_ENST00000470093.1_5'UTR NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 370 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) CGTGCAGGCAGGCCCTTTGAC 0.592000 23 59 0 0 1 0 0 PHYHIPL 84457 broad.mit.edu 37 10 60936703 60936703 + Missense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr10:60936703G>T ENST00000373880.4 + 1 354 c.90G>T c.(88-90)caG>caT p.Q30H PHYHIPL_ENST00000433653.1_Missense_Mutation_p.Q30H NM_032439.3 NP_115815.2 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein-like 30 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 AGGCCATTCAGCTGTGCGACC 0.672000 9 26 5.68852e-11 6.1261e-11 1 1 0 SLC7A9 11136 broad.mit.edu 37 19 33349446 33349446 + Missense_Mutation SNP A A T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:33349446A>T ENST00000023064.4 - 9 1068 c.877T>A c.(877-879)Ttt>Att p.F293I SLC7A9_ENST00000587772.1_Missense_Mutation_p.F293I|SLC7A9_ENST00000590341.1_Missense_Mutation_p.F293I NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 293 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) CGGTCACCAAATGTCTGGTGA 0.562000 10 13 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144671461 144671461 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr8:144671461C>T ENST00000532741.1 - 1 1169 c.941G>A c.(940-942)cGa>cAa p.R314Q EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.R264Q|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.R264Q|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000528610.1_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 42 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CAGGCCGGCTCGCTCTTGCAG 0.711000 14 9 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75826975 75826975 + Missense_Mutation SNP A A G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr11:75826975A>G ENST00000356136.3 + 14 1554 c.1313A>G c.(1312-1314)tAt>tGt p.Y438C UVRAG_ENST00000528420.1_Missense_Mutation_p.Y337C|UVRAG_ENST00000533454.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000539288.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000532130.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000531818.1_Missense_Mutation_p.Y66C NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 438 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 CAGCTAAGATATCAACATGGA 0.378000 11 3 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333720 28333720 + Silent SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr6:28333720G>T ENST00000377255.3 + 7 1572 c.1275G>T c.(1273-1275)ccG>ccT p.P425P ZKSCAN3_ENST00000252211.2_Silent_p.P425P|ZKSCAN3_ENST00000341464.5_Silent_p.P277P NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 425 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 GGGAGAAGCCGTATCAGTGCA 0.507000 36 12 9.17885e-22 1.0514e-21 1 1 0 DPEP3 64180 broad.mit.edu 37 16 68013604 68013604 + Nonsense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr16:68013604G>A ENST00000268793.4 - 2 800 c.427C>T c.(427-429)Cga>Tga p.R143* DPEP3_ENST00000574342.1_Intron NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 118 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) CTGAAATTTCGCAGGTTAACA 0.582000 7 30 0 0 1 0 0 APBB3 10307 broad.mit.edu 37 5 139939900 139939900 + Missense_Mutation SNP T T C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr5:139939900T>C ENST00000357560.4 - 12 1665 c.1222A>G c.(1222-1224)Atg>Gtg p.M408V APBB3_ENST00000412920.3_Missense_Mutation_p.M406V|APBB3_ENST00000508496.2_Missense_Mutation_p.M185V|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000354402.5_Missense_Mutation_p.M415V|APBB3_ENST00000356738.2_Missense_Mutation_p.M413V NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 408 PID 2. actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACTCACCATACAGGCAGCC 0.607000 19 30 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122680068 122680068 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr3:122680068C>T ENST00000195173.4 - 2 346 c.43G>A c.(43-45)Gtc>Atc p.V15I SEMA5B_ENST00000451055.2_Missense_Mutation_p.V69I|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000357599.3_Missense_Mutation_p.V15I Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 15 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGCCCAGGGACGAGGTGGTGG 0.612000 19 23 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95645801 95645801 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:95645801G>A ENST00000436874.1 + 2 227 c.122G>A c.(121-123)tGc>tAc p.C41Y VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 41 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 ACAGAAAAATGCACAACAGAG 0.393000 7 18 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31426209 31426209 + Missense_Mutation SNP T T A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr16:31426209T>A ENST00000389202.2 + 18 2229 c.2180T>A c.(2179-2181)aTc>aAc p.I727N NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 727 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GTGAGCCCCATCATTCTGCAC 0.572000 47 73 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37619591 37619591 + Silent SNP A A G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:37619591A>G ENST00000337995.3 + 5 1913 c.1698A>G c.(1696-1698)aaA>aaG p.K566K ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATGTGGGAAAGCCTTTATTC 0.428000 4 26 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7679407 7679407 + Missense_Mutation SNP C C A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:7679407C>A ENST00000572933.1 + 31 6347 c.4887C>A c.(4885-4887)caC>caA p.H1629Q DNAH2_ENST00000389173.2_Missense_Mutation_p.H1629Q Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1629 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGAACTGCCACCTGGCCCTCA 0.612000 34 47 1.45844e-13 1.61195e-13 1 1 0 TBC1D2 55357 broad.mit.edu 37 9 100983362 100983362 + Missense_Mutation SNP A A C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr9:100983362A>C ENST00000375066.5 - 6 1218 c.1127T>G c.(1126-1128)gTg>gGg p.V376G TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V376G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V158G NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 376 Interaction with RAC1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CAGGGCCTCCACCCGCCGGCC 0.697000 11 28 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32843746 32843746 + Missense_Mutation SNP A A G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:32843746A>G ENST00000311921.3 + 2 202 c.10A>G c.(10-12)Agt>Ggt p.S4G ZNF507_ENST00000544431.1_Missense_Mutation_p.S4G|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.S4G NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TATGGAAGAAAGTAGCAGTGT 0.358000 17 31 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578188 7578188 + Nonsense_Mutation SNP C C A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:7578188C>A ENST00000420246.2 - 6 793 c.661G>T c.(661-663)Gag>Tag p.E221* TP53_ENST00000445888.2_Nonsense_Mutation_p.E221*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E221*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E221*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E221*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E221* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 221 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (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.E221*(14)|p.?(11)|p.0?(8)|p.E221fs*4(3)|p.E128*(3)|p.E221K(2)|p.Y220_P223delYEPP(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.E221fs*26(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) TCAGGCGGCTCATAGGGCACC 0.552000 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) 10 21 0.0692343 0.070351 1 1 0 SCN8A 6334 broad.mit.edu 37 12 52056629 52056629 + Missense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:52056629G>T ENST00000354534.5 + 2 206 c.28G>T c.(28-30)Ggc>Tgc p.G10C SCN8A_ENST00000545061.1_Missense_Mutation_p.G10C|SCN8A_ENST00000550891.1_Missense_Mutation_p.G10C NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 10 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TGCACCACCAGGCCCTGATAG 0.547000 47 89 1.00776e-21 1.14394e-21 1 1 0 ITPR1 3708 broad.mit.edu 37 3 4824383 4824383 + Silent SNP C C A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr3:4824383C>A ENST00000354582.6 + 49 6773 c.6423C>A c.(6421-6423)tcC>tcA p.S2141S ITPR1_ENST00000456211.2_Silent_p.S2093S|ITPR1_ENST00000443694.2_Silent_p.S2141S|ITPR1_ENST00000423119.2_Silent_p.S2108S|ITPR1_ENST00000357086.4_Silent_p.S2108S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.S2141S Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2156 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGGCGGCGTCCCCCAGGAACG 0.527000 24 10 1.66031e-10 1.77287e-10 1 1 0 VEZT 55591 broad.mit.edu 37 12 95645802 95645802 + Nonsense_Mutation SNP C C A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:95645802C>A ENST00000436874.1 + 2 228 c.123C>A c.(121-123)tgC>tgA p.C41* VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 41 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CAGAAAAATGCACAACAGAGG 0.398000 7 18 8.12818e-05 8.39468e-05 1 1 0 DOPEY1 23033 broad.mit.edu 37 6 83847480 83847480 + Missense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr6:83847480G>T ENST00000349129.2 + 21 3979 c.3719G>T c.(3718-3720)tGt>tTt p.C1240F DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.C1221F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.C1231F NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1240 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TCCTCACCTTGTATTTCAGGA 0.433000 16 21 1.99824e-07 2.11578e-07 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92763041 92763041 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr7:92763041G>A ENST00000318238.4 - 5 3460 c.2244C>T c.(2242-2244)acC>acT p.T748T SAMD9L_ENST00000437805.1_Silent_p.T748T|SAMD9L_ENST00000411955.1_Silent_p.T748T NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 748 p.T748T(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TAGCCAGTGTGGTACCTCCAC 0.378000 32 90 0 0 1 0 0 GLCCI1 113263 broad.mit.edu 37 7 8126063 8126063 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr7:8126063G>A ENST00000223145.5 + 8 2096 c.1539G>A c.(1537-1539)gcG>gcA p.A513A NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 513 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) CCAGCACAGCGGGCTCCATGG 0.572000 71 235 0 0 1 0 0 KPNB1 3837 broad.mit.edu 37 17 45755518 45755518 + Missense_Mutation SNP A A G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:45755518A>G ENST00000290158.4 + 18 2617 c.2210A>G c.(2209-2211)aAt>aGt p.N737S KPNB1_ENST00000535458.2_Missense_Mutation_p.N592S|KPNB1_ENST00000537679.1_Missense_Mutation_p.N521S|KPNB1_ENST00000540627.1_Missense_Mutation_p.N592S NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 737 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 GTTGTATTGAATACTCTTCAG 0.438000 18 59 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57006800 57006800 + Missense_Mutation SNP T T G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr6:57006800T>G ENST00000370706.4 + 9 1155 c.911T>G c.(910-912)tTg>tGg p.L304W RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.L304W|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.L304W|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAGAAACTTTTGATCTCTCTG 0.388000 27 18 0 0 1 0 0 ADPRM 56985 broad.mit.edu 37 17 10614306 10614306 + Missense_Mutation SNP T T A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:10614306T>A ENST00000379774.4 + 4 965 c.874T>A c.(874-876)Tac>Aac p.Y292N NM_020233.4 NP_064618.3 ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent TTTTGGTGTATACCACGTCAA 0.478000 16 36 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238259 126238259 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr4:126238259G>A ENST00000394329.3 + 1 706 c.693G>A c.(691-693)cgG>cgA p.R231R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 231 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTAAGCGGCGGGGCTACCTTC 0.597000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 19 0 0 1 0 0 TXN2 25828 broad.mit.edu 37 22 36876667 36876667 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr22:36876667C>T ENST00000216185.2 - 2 684 c.218G>A c.(217-219)cGa>cAa p.R73Q TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R73Q|TXN2_ENST00000487725.1_5'UTR Q99757 THIOM_HUMAN thioredoxin 2 73 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity breast(1)|lung(1)|prostate(1) 3 GTTGACCACTCGGTCTTGAAA 0.493000 27 46 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65680855 65680855 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr15:65680855C>T ENST00000352385.2 - 16 2986 c.2777G>A c.(2776-2778)cGc>cAc p.R926H NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 926 Fibronectin type-III 5. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CACCTCTGTGCGCGCCCCCAT 0.617000 45 95 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196865488 196865488 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr2:196865488G>A ENST00000312428.6 - 12 1393 c.1293C>T c.(1291-1293)gaC>gaT p.D431D DNAH7_ENST00000410072.1_Silent_p.D431D NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 431 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAATCATGACGTCATAAACAT 0.338000 18 47 0 0 1 0 0 LINC01317 104355287 broad.mit.edu 37 2 33952891 33952891 + RNA SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr2:33952891C>T ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA CCATAGGCCCCTTCCAGGCGC 0.657000 3 12 0 0 1 0 0 IGFL3 388555 broad.mit.edu 37 19 46627553 46627553 + Missense_Mutation SNP G G C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:46627553G>C ENST00000341415.2 - 2 75 c.51C>G c.(49-51)ttC>ttG p.F17L AC007193.6_ENST00000597989.1_lincRNA NM_207393.1 NP_997276.1 Q6UXB1 IGFL3_HUMAN IGF-like family member 3 17 extracellular region protein binding endometrium(1)|large_intestine(1)|lung(5) 7 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) ACTGGAGGAGGAAGACTGTTA 0.428000 17 25 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135205684 135205684 + Missense_Mutation SNP T T C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr9:135205684T>C ENST00000372169.2 - 10 1483 c.1301A>G c.(1300-1302)aAt>aGt p.N434S SETX_ENST00000224140.5_Missense_Mutation_p.N434S|SETX_ENST00000393220.1_Missense_Mutation_p.N434S Q7Z333 SETX_HUMAN senataxin 434 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GTACAGATGATTAACAACCTG 0.393000 19 37 0 0 1 0 0 CPB1 1360 broad.mit.edu 37 3 148575247 148575247 + Missense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr3:148575247G>T ENST00000491148.1 + 11 1319 c.985G>T c.(985-987)Gcc>Tcc p.A329S CPB1_ENST00000282957.4_Missense_Mutation_p.A329S|CPB1_ENST00000498639.1_3'UTR|RP11-680B3.2_ENST00000488190.1_RNA P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 329 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTTGCAGAATGCCCTGGCTAA 0.418000 10 30 0.000219431 0.000224783 1 1 0 TSPYL6 388951 broad.mit.edu 37 2 54483268 54483268 + Silent SNP A A G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr2:54483268A>G ENST00000317802.7 - 1 141 c.21T>C c.(19-21)ccT>ccC p.P7P ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 7 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 CGGGGCTGTGAGGACTCTCCG 0.587000 44 59 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65425617 65425617 + Nonsense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr3:65425617G>A ENST00000330909.8 - 9 1206 c.1207C>T c.(1207-1209)Cag>Tag p.Q403* MAGI1_ENST00000483466.1_Nonsense_Mutation_p.Q403*|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Nonsense_Mutation_p.Q403*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.Q403* NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 403 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) tgctgctgctgctgctCAAGC 0.512000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 26 0 0 1 0 0 PEBP1 5037 broad.mit.edu 37 12 118582403 118582403 + Missense_Mutation SNP A A G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:118582403A>G ENST00000261313.2 + 4 711 c.359A>G c.(358-360)tAt>tGt p.Y120C PEBP1_ENST00000542939.1_3'UTR NM_002567.2 NP_002558.1 P30086 PEBP1_HUMAN phosphatidylethanolamine binding protein 1 120 ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCACCGCTATGTCTGGCTG 0.547000 11 13 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842044 8842044 + Silent SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:8842044C>T ENST00000324060.2 + 1 729 c.654C>T c.(652-654)taC>taT p.Y218Y NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCACCTCCTACGGCCACGTGT 0.582000 21 43 0 0 1 0 0 GPATCH2 55105 broad.mit.edu 37 1 217622681 217622681 + Splice_Site SNP T T G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr1:217622681T>G ENST00000366935.3 - 9 1388 c.e9-2 NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) CTTGTTTGCCTACGAATAATT 0.358000 12 22 0 0 1 0 0 OR10V1 390201 broad.mit.edu 37 11 59480513 59480513 + Missense_Mutation SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr11:59480513G>A ENST00000307552.2 - 1 824 c.806C>T c.(805-807)cCt>cTt p.P269L NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 GCCCATCTCAGGAGAGTAGCT 0.483000 21 59 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2648797 2648797 + Silent SNP T T G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr9:2648797T>G ENST00000382100.2 + 14 2447 c.2091T>G c.(2089-2091)ctT>ctG p.L697L VLDLR_ENST00000382099.2_Silent_p.L697L NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 697 cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) ATCATGAACTTGTACAGCCAT 0.448000 16 36 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4960878 4960878 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr16:4960878G>A ENST00000345988.2 - 2 224 c.135C>T c.(133-135)atC>atT p.I45I PPL_ENST00000590782.2_Silent_p.I45I NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 45 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CTGTGTCCACGATGTTCTTCT 0.607000 34 31 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100569533 100569533 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr3:100569533C>T ENST00000471714.1 - 16 1527 c.1418G>A c.(1417-1419)aGa>aAa p.R473K ABI3BP_ENST00000284322.5_Missense_Mutation_p.R424K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R473K Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 427 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTCAAGAGTTCTAGAAGTTTT 0.348000 4 8 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94404096 94404096 + Silent SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr14:94404096C>T ENST00000555019.1 - 9 2149 c.1719G>A c.(1717-1719)ctG>ctA p.L573L ASB2_ENST00000315988.4_Silent_p.L525L NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 525 SOCS box. intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) TGTGTTCCTTCAGCCGCGAGC 0.612000 15 26 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729452 62729452 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr20:62729452G>A ENST00000349451.3 + 5 943 c.531G>A c.(529-531)ctG>ctA p.L177L OPRL1_ENST00000355631.4_Silent_p.L177L|OPRL1_ENST00000336866.2_Silent_p.L177L NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 177 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TCTGGGCCCTGGCCTCTGTTG 0.637000 22 53 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113307811 113307811 + Missense_Mutation SNP G G C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:113307811G>C ENST00000389385.4 + 10 1260 c.763G>C c.(763-765)Ggg>Cgg p.G255R RPH3A_ENST00000447659.2_Missense_Mutation_p.G206R|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.G255R|RPH3A_ENST00000551052.1_Missense_Mutation_p.G251R|RPH3A_ENST00000543106.2_Missense_Mutation_p.G255R|RPH3A_ENST00000548866.1_Missense_Mutation_p.G206R|RPH3A_ENST00000420983.2_Missense_Mutation_p.G255R NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 255 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GGACCACAGTGGGGGTGCTGG 0.597000 6 45 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805704 54805704 + Missense_Mutation SNP T T G TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr6:54805704T>G ENST00000306858.7 + 5 2051 c.1935T>G c.(1933-1935)aaT>aaG p.N645K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 645 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TGGGTGTAAATAAGCAGACAG 0.363000 25 15 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6632086 6632086 + Missense_Mutation SNP T T A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:6632086T>A ENST00000315579.5 + 16 2846 c.2047T>A c.(2047-2049)Tgg>Agg p.W683R NCAPD2_ENST00000545962.1_Missense_Mutation_p.W638R NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 683 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 GCCTCTCATCTGGTCTAAGGA 0.552000 41 64 0 0 1 0 0 NPVF 64111 broad.mit.edu 37 7 25266413 25266413 + Missense_Mutation SNP A A C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr7:25266413A>C ENST00000222674.2 - 2 417 c.371T>G c.(370-372)gTt>gGt p.V124G NM_022150.3 NP_071433.3 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 124 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 CAGGTTAGGAACACGTCTCAC 0.493000 39 67 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80770945 80770945 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:80770945C>T ENST00000458043.2 + 57 6803 c.6797C>T c.(6796-6798)tCg>tTg p.S2266L OTOGL_ENST00000547103.1_Missense_Mutation_p.S2254L|OTOGL_ENST00000546620.1_Missense_Mutation_p.S285L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATCATTAAATCGGTCATAAGG 0.323000 5 7 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140373544 140373544 + Silent SNP C C A rs148381137 TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr7:140373544C>A ENST00000072869.4 + 1 592 c.414C>A c.(412-414)acC>acA p.T138T ADCK2_ENST00000476491.1_Silent_p.T138T NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 138 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) TGAAAGCCACCGAGACCTCAG 0.587000 56 43 4.17463e-26 4.82572e-26 1 1 0 TMCO3 55002 broad.mit.edu 37 13 114149816 114149816 + Splice_Site SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr13:114149816G>T ENST00000434316.2 + 2 279 c.e2-1 TMCO3_ENST00000474393.1_Splice_Site|TMCO3_ENST00000375391.1_Splice_Site NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) CTCTTTTTCAGCTGAAAATGT 0.423000 13 28 2.61681e-11 2.86712e-11 1 1 0 HYI 81888 broad.mit.edu 37 1 43917341 43917342 + Frame_Shift_Ins INS - - A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr1:43917341_43917342insA ENST00000372425.4 - 6 797_798 c.602_603insT c.(601-603)acgfs p.T201fs HYI_ENST00000372434.1_Frame_Shift_Ins_p.T226fs|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372432.1_Frame_Shift_Ins_p.T201fs|HYI_ENST00000486909.1_Frame_Shift_Ins_p.T201fs|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000583037.1_Frame_Shift_Ins_p.T128fs|HYI_ENST00000372426.1_Frame_Shift_Ins_p.T153fs Q5T013 HYI_HUMAN hydroxypyruvate isomerase (putative) 201 hydroxypyruvate isomerase activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 6 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGAACTCCCGGATGTTTCCTGT 0.584 30 31 --- --- --- --- RAI14 26064 broad.mit.edu 37 5 34823335 34823335 + Frame_Shift_Del DEL G G - TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr5:34823335delG ENST00000265109.3 + 15 1675 c.1388delG c.(1387-1389)agfs p.R463fs RAI14_ENST00000515799.1_Frame_Shift_Del_p.R466fs|RAI14_ENST00000397449.1_Frame_Shift_Del_p.R456fs|RAI14_ENST00000506376.1_Frame_Shift_Del_p.R455fs|RAI14_ENST00000512629.1_Frame_Shift_Del_p.R434fs|RAI14_ENST00000503673.1_Frame_Shift_Del_p.R463fs|RAI14_ENST00000428746.2_Frame_Shift_Del_p.R463fs NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 463 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CAATCCCGAAGGGCAGAACTG 0.438 14 50 --- --- --- --- PRDM1 639 broad.mit.edu 37 6 106553236 106553236 + Frame_Shift_Del DEL G G - TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr6:106553236delG ENST00000369096.4 + 5 1435 c.1201delG c.(1201-1203)ctfs p.A401fs PRDM1_ENST00000369089.3_Frame_Shift_Del_p.A267fs|PRDM1_ENST00000369091.2_Frame_Shift_Del_p.A365fs NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 401 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CCTCCCGCCAGCTTTCATCCC 0.592 """D, N, Mis, F, S""" DLBCL 26 67 --- --- --- --- KRTAP5-2 440021 broad.mit.edu 37 11 1619173 1619202 + In_Frame_Del DEL CCCCCACAGGAGCCACAGCCCCCCTTGGAG CCCCCACAGGAGCCACAGCCCCCCTTGGAG - rs61869706 by1000genomes TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG ENST00000412090.1 - 1 322_351 c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG c.(277-309)ggt>gg p.GSKGGCGSCGG93del KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 93 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG 0.657 41 274 --- --- --- --- SHMT2 6472 broad.mit.edu 37 12 57626532 57626533 + Frame_Shift_Ins INS - - T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr12:57626532_57626533insT ENST00000328923.3 + 7 1215_1216 c.763_764insT c.(763-765)cagfs p.Q255fs SHMT2_ENST00000414700.3_Frame_Shift_Ins_p.Q234fs|SHMT2_ENST00000393827.4_Frame_Shift_Ins_p.Q159fs|SHMT2_ENST00000449049.3_Frame_Shift_Ins_p.Q234fs|SHMT2_ENST00000557487.1_Frame_Shift_Ins_p.Q245fs|SHMT2_ENST00000553474.1_Frame_Shift_Ins_p.Q234fs NM_001166356.1|NM_005412.5 NP_001159828.1|NP_005403.2 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 255 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CATGGCCCACATCAGTGGCCTG 0.624 20 23 --- --- --- --- MBTPS1 8720 broad.mit.edu 37 16 84121067 84121068 + Splice_Site INS - - A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr16:84121067_84121068insA ENST00000343411.3 - 9 1527 c.e9-2 MBTPS1_ENST00000569770.1_Splice_Site NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TTCAGAGTGCTATATTGAGACC 0.361 8 22 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 104 47 --- --- --- --- APOH 350 broad.mit.edu 37 17 64224284 64224285 + Frame_Shift_Ins INS - - A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr17:64224284_64224285insA ENST00000205948.6 - 2 131_132 c.94_95insT c.(94-96)cacfs p.H32fs NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 32 Sushi 1. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding p.S32F(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) GACCACTGTGGAAAATGGTAAA 0.441 48 38 --- --- --- --- DAZAP1 26528 broad.mit.edu 37 19 1434842 1434843 + Frame_Shift_Ins INS - - T rs61735591 by1000genomes TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr19:1434842_1434843insT ENST00000233078.4 + 12 1316_1317 c.1155_1156insT c.(1153-1158)ccccggfs p.R386fs DAZAP1_ENST00000336761.6_3'UTR NM_018959.2 NP_061832.2 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 386 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ggggcccccccgccggcggcAG 0.713 8 36 --- --- --- --- RUNX1 861 broad.mit.edu 37 21 36259279 36259279 + Frame_Shift_Del DEL A A - TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr21:36259279delA ENST00000344691.4 - 1 1708 c.131delT c.(130-132)cgfs p.L44fs RUNX1_ENST00000399240.1_Frame_Shift_Del_p.L44fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.L71fs|RUNX1_ENST00000437180.1_Frame_Shift_Del_p.L71fs|RUNX1_ENST00000325074.5_Frame_Shift_Del_p.L59fs|RUNX1_ENST00000358356.5_Frame_Shift_Del_p.L44fs|RUNX1_ENST00000486278.2_Frame_Shift_Del_p.L47fs NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 44 myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.A66fs*62(1) breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 GCCGCTCCTCAGCTTGCCGGC 0.736 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 13 9 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194933 28194934 + In_Frame_Ins INS - - TGC rs34890218 TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr22:28194933_28194934insTGC ENST00000302326.4 - 1 2552_2553 c.1598_1599insGCA c.(1597-1599)cca>cGCAca p.533_533P>RT NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 533 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgttgctgctgctg 0.653 T ETV6 """AML, meningioma""" 4 7 --- --- --- --- NEFH 4744 broad.mit.edu 37 22 29885859 29885876 + In_Frame_Del DEL GCTAAGTCCCCAGAGAAG GCTAAGTCCCCAGAGAAG - rs117283469 byFrequency TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chr22:29885859_29885876delGCTAAGTCCCCAGAGAAG ENST00000310624.6 + 4 2263_2280 c.2230_2247delGCTAAGTCCCCAGAGAAG c.(2230-2247)del p.AKSPEK750del NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 756 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 GAAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCC 0.550 37 66 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 9 --- --- --- --- TMEM187 8269 broad.mit.edu 37 X 153248003 153248009 + Frame_Shift_Del DEL GAGGTCG GAGGTCG - rs149045617 TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce 2fc63fcc-255a-409c-8f03-6eb260888240 g.chrX:153248003_153248009delGAGGTCG ENST00000369982.4 + 2 1237_1243 c.490_496delGAGGTCG c.(490-498)cafs p.EVA164fs NM_003492.2 NP_003483.1 Q14656 TM187_HUMAN transmembrane protein 187 164 integral to membrane|transport vesicle breast(1)|large_intestine(1)|lung(1)|prostate(2) 5 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGGGCTTCGAGGTCGCACTGGGTGC 0.657 12 7 --- --- --- ---