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 ARHGAP32 9743 broad.mit.edu 37 11 128843256 128843256 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:128843256G>C ENST00000310343.9 - 21 3102 c.3103C>G c.(3103-3105)Cct>Gct p.P1035A ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P686A|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P686A NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1035 Poly-Pro. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TTTTTCGGAGGCGGTGGTGGT 0.522000 17 219 0 0 0.557998 0 0 E2F7 144455 broad.mit.edu 37 12 77449801 77449801 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:77449801G>C ENST00000322886.7 - 3 438 c.203C>G c.(202-204)aCt>aGt p.T68S E2F7_ENST00000416496.2_Missense_Mutation_p.T68S NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 68 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CTTAACTGGAGTAATGGGATT 0.428000 17 98 0 0 0.575678 0 0 PRDM9 56979 broad.mit.edu 37 5 23527499 23527499 + Silent SNP A A C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr5:23527499A>C ENST00000296682.3 + 11 2484 c.2302A>C c.(2302-2304)Agg>Cgg p.R768R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 768 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CAGACACCAGAGGACACACAC 0.582000 HNSCC(3;0.000094) 6 354 0 0 0.248553 0 0 EMR1 2015 broad.mit.edu 37 19 6903938 6903938 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:6903938C>G ENST00000312053.4 + 7 816 c.779C>G c.(778-780)aCa>aGa p.T260R EMR1_ENST00000381407.5_Missense_Mutation_p.T119R|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.T208R|EMR1_ENST00000250572.8_Missense_Mutation_p.T260R NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 260 EGF-like 5; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TTGAATTTCACAGACCAAGGA 0.458000 9 66 0 0 0.307466 0 0 CD244 51744 broad.mit.edu 37 1 160811112 160811112 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:160811112G>T ENST00000368034.4 - 3 720 c.543C>A c.(541-543)gaC>gaA p.D181E CD244_ENST00000368032.2_Missense_Mutation_p.D181E|CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Missense_Mutation_p.D186E NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 186 Ig-like 2. blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CAACCTCCTCGTCCAGGTAGG 0.517000 40 158 2.40228e-13 3.4411e-13 0.864702 1 0 NCAM2 4685 broad.mit.edu 37 21 22881276 22881276 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr21:22881276C>A ENST00000400546.1 + 16 2431 c.2182C>A c.(2182-2184)Caa>Aaa p.Q728K NCAM2_ENST00000284894.7_Missense_Mutation_p.Q586K NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 728 neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CTTTATTCGGCAATGTGGGTT 0.468000 10 66 1.33987e-11 1.78649e-11 0.361761 1 0 MYOM3 127294 broad.mit.edu 37 1 24424450 24424450 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:24424450G>C ENST00000330966.7 - 7 873 c.711C>G c.(709-711)caC>caG p.H237Q MYOM3_ENST00000329601.7_Missense_Mutation_p.H236Q|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.H236Q Q5VTT5 MYOM3_HUMAN myomesin 3 236 Ig-like C2-type 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) AGGCCTGGCCGTGGGCGTTCT 0.592000 80 277 0 0 0.870114 0 0 RAB39B 116442 broad.mit.edu 37 X 154490293 154490293 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:154490293C>A ENST00000369454.3 - 2 737 c.437G>T c.(436-438)gGc>gTc p.G146V NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 146 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTACTTCATGCCGTATGCAGC 0.498000 6 59 0.0215528 0.0229607 0.217242 1 0 MAMLD1 10046 broad.mit.edu 37 X 149639428 149639428 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:149639428G>T ENST00000370401.2 + 4 1893 c.1583G>T c.(1582-1584)aGc>aTc p.S528I MAMLD1_ENST00000426613.2_Missense_Mutation_p.S503I|MAMLD1_ENST00000455522.2_Missense_Mutation_p.S9I|MAMLD1_ENST00000262858.5_Missense_Mutation_p.S528I|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S503I Q13495 MAMD1_HUMAN mastermind-like domain containing 1 528 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) GGGATGGCAAGCTCCAGCCCA 0.542000 25 86 9.86323e-18 1.49357e-17 0.667858 1 0 TESC 54997 broad.mit.edu 37 12 117476964 117476964 + Missense_Mutation SNP T T C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:117476964T>C ENST00000335209.7 - 8 805 c.619A>G c.(619-621)Atg>Gtg p.M207V TESC_ENST00000541210.1_Missense_Mutation_p.M180V|TESC_ENST00000392545.4_Missense_Mutation_p.M260V Q96BS2 TESC_HUMAN tescalcin 207 negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0297) ATGGTTTCCATGTTAAGGAAG 0.632000 4 52 0 0 0.184627 0 0 SHPRH 257218 broad.mit.edu 37 6 146266716 146266716 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr6:146266716G>A ENST00000367503.3 - 8 1777 c.1379C>T c.(1378-1380)tCc>tTc p.S460F SHPRH_ENST00000438092.2_Missense_Mutation_p.S460F|SHPRH_ENST00000275233.7_Missense_Mutation_p.S460F|SHPRH_ENST00000367505.2_Missense_Mutation_p.S460F NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 460 H15. S -> F (in a melanoma cell line). DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GGAAAGGATGGACACTCCTTT 0.323000 5 28 0 0 0.217242 0 0 NLRP5 126206 broad.mit.edu 37 19 56561914 56561914 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:56561914G>A ENST00000390649.3 + 12 3088 c.3088G>A c.(3088-3090)Gag>Aag p.E1030K NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1030 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCTTCTGTGCGAGGTCATGAG 0.517000 5 64 0 0 0.248553 0 0 CAPN10 11132 broad.mit.edu 37 2 241534098 241534098 + Silent SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr2:241534098G>A ENST00000391984.2 + 6 1165 c.969G>A c.(967-969)gaG>gaA p.E323E CAPN10_ENST00000404753.3_Silent_p.E323E|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Silent_p.E323E|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.E323E NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 323 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CGGTCACGGAGGCCGGCCACC 0.662000 37 111 0 0 0.853193 0 0 SORT1 6272 broad.mit.edu 37 1 109897003 109897003 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:109897003C>A ENST00000256637.6 - 5 752 c.694G>T c.(694-696)Gct>Tct p.A232S SORT1_ENST00000538502.1_Missense_Mutation_p.A96S NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 232 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GTGCTGAGAGCTAAAAGATAA 0.378000 7 85 0.00448238 0.00482368 0.307466 1 0 KCNH5 27133 broad.mit.edu 37 14 63417226 63417226 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr14:63417226C>A ENST00000322893.7 - 7 1262 c.994G>T c.(994-996)Ggc>Tgc p.G332C KCNH5_ENST00000394964.2_Missense_Mutation_p.G274C|KCNH5_ENST00000394968.1_Missense_Mutation_p.G274C|KCNH5_ENST00000420622.2_Missense_Mutation_p.G332C NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 332 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GCCACACGGCCCAGTCGTAAG 0.458000 5 62 0.0381472 0.0400357 0.278610 1 0 FAM127C 441518 broad.mit.edu 37 X 134156270 134156270 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:134156270C>A ENST00000391440.1 - 1 289 c.220G>T c.(220-222)Ggg>Tgg p.G74W NM_001078173.1 NP_001071641.1 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 74 breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6 Acute lymphoblastic leukemia(192;0.000127) AGGGCGGGCCCCGTGAGGCGG 0.602000 12 134 2.27111e-07 2.78309e-07 0.411799 1 0 CUX2 23316 broad.mit.edu 37 12 111786103 111786103 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:111786103G>A ENST00000261726.6 + 22 4589 c.4435G>A c.(4435-4437)Gag>Aag p.E1479K NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1479 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TGCCAATCGGGAGGAGGCCCT 0.572000 21 170 0 0 0.608945 0 0 MYO9A 4649 broad.mit.edu 37 15 72338223 72338223 + Nonsense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr15:72338223G>A ENST00000356056.5 - 2 1154 c.682C>T c.(682-684)Cag>Tag p.Q228* MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q228*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q228*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q228* NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 228 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTTTTGCGCTGAAGCATGGCA 0.423000 6 47 0 0 0.217242 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 62 0 0 0.115264 0 0 MUC16 94025 broad.mit.edu 37 19 9091606 9091606 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:9091606G>A ENST00000397910.4 - 1 412 c.209C>T c.(208-210)tCg>tTg p.S70L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 70 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCCACAACCGAAGATGTAGG 0.522000 13 78 0 0 0.457914 0 0 GZMA 3001 broad.mit.edu 37 5 54401380 54401380 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr5:54401380G>C ENST00000274306.6 + 2 184 c.149G>C c.(148-150)aGa>aCa p.R50T NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 50 Peptidase S1. DRKT -> KPDS (in Ref. 5; no nucleotide entry). cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AGTCTTGACAGAAAAACCATC 0.383000 4 92 0 0 0.184627 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766703 77766703 + Missense_Mutation SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:77766703T>A ENST00000521891.2 + 10 7994 c.7546T>A c.(7546-7548)Ttc>Atc p.F2516I ZFHX4_ENST00000518282.1_Missense_Mutation_p.F2490I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F2471I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F2471I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2471 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCACATGCACTTCCTTGCTGC 0.488000 HNSCC(33;0.089) 18 193 0 0 0.624587 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28302244 28302244 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr21:28302244G>T ENST00000284987.5 - 7 2307 c.2186C>A c.(2185-2187)tCc>tAc p.S729Y AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 729 Cys-rich. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGTACAGCTGGAGTTGTCTCC 0.438000 43 132 1.76056e-25 2.89332e-25 0.859065 1 0 HIP1 3092 broad.mit.edu 37 7 75187519 75187519 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr7:75187519C>A ENST00000336926.6 - 15 1442 c.1416G>T c.(1414-1416)aaG>aaT p.K472N HIP1_ENST00000434438.2_Missense_Mutation_p.K472N NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 472 pDED. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGTACTTCTCCTTTAGCTTGC 0.547000 T PDGFRB CMML 7 97 0.000274275 0.000312615 0.307466 1 0 SFI1 9814 broad.mit.edu 37 22 32009156 32009156 + Missense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr22:32009156C>T ENST00000432498.1 + 24 2819 c.2426C>T c.(2425-2427)gCg>gTg p.A809V SFI1_ENST00000540643.1_Missense_Mutation_p.A785V|SFI1_ENST00000414585.1_Missense_Mutation_p.A687V|SFI1_ENST00000443326.1_Missense_Mutation_p.A758V|SFI1_ENST00000400289.1_Missense_Mutation_p.A758V|SFI1_ENST00000443011.1_Missense_Mutation_p.A687V|SFI1_ENST00000400288.2_Missense_Mutation_p.A840V NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 840 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GAGCAGCGGGCGACAGTGCGG 0.632000 13 37 0 0 0.520397 0 0 MYL2 4633 broad.mit.edu 37 12 111353531 111353531 + Missense_Mutation SNP A A C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:111353531A>C ENST00000228841.8 - 3 204 c.157T>G c.(157-159)Ttt>Gtt p.F53V MYL2_ENST00000548438.1_Intron NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 53 EF-hand 1. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 AGGGCAGCAAAGGTGTCTCTC 0.522000 22 184 0 0 0.654019 0 0 ABCG4 64137 broad.mit.edu 37 11 119029411 119029411 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:119029411G>A ENST00000307417.3 + 11 1676 c.1312G>A c.(1312-1314)Gcc>Acc p.A438T ABCG4_ENST00000449422.2_Missense_Mutation_p.A438T|ABCG4_ENST00000531739.1_Missense_Mutation_p.A438T NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 438 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CATGTTCGCCGCCCTCATGCC 0.632000 6 120 0 0 0.217242 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85623306 85623306 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:85623306G>A ENST00000393217.2 + 25 4895 c.4834G>A c.(4834-4836)Gac>Aac p.D1612N LRRIQ1_ENST00000528777.3_3'UTR NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1612 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TATAGAAGAAGACCCTATCCA 0.373000 6 87 0 0 0.278610 0 0 CEP78 84131 broad.mit.edu 37 9 80851322 80851322 + Missense_Mutation SNP A A T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr9:80851322A>T ENST00000424347.2 + 1 345 c.56A>T c.(55-57)tAc>tTc p.Y19F CEP78_ENST00000277082.5_Missense_Mutation_p.Y19F|CEP78_ENST00000415759.2_Missense_Mutation_p.Y19F|CEP78_ENST00000376597.4_Missense_Mutation_p.Y19F|CEP78_ENST00000376598.2_Missense_Mutation_p.Y19F Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 19 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 TTCTCCCACTACGAGTACCTG 0.731000 9 14 0 0 0.307466 0 0 OR5M8 219484 broad.mit.edu 37 11 56258451 56258451 + Silent SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:56258451G>T ENST00000327216.2 - 1 420 c.396C>A c.(394-396)ggC>ggA p.G132G NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) ACATTCTGCTGCCATAAAGCA 0.512000 5 74 0.00198382 0.00215677 0.248553 1 0 MBTPS1 8720 broad.mit.edu 37 16 84089675 84089675 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:84089675C>A ENST00000343411.3 - 22 3392 c.2897G>T c.(2896-2898)cGa>cTa p.R966L NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 966 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 GCGATTCGATCGAAAGTTGGG 0.483000 19 74 8.34094e-07 1.01625e-06 0.575678 1 0 ILF2 3608 broad.mit.edu 37 1 153641006 153641006 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:153641006G>C ENST00000361891.4 - 4 261 c.136C>G c.(136-138)Cca>Gca p.P46A ILF2_ENST00000368681.1_Missense_Mutation_p.P46A NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 46 immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCAGGTGCTGGCTTGACCCGG 0.438000 5 68 0 0 0.278610 0 0 PRDM14 63978 broad.mit.edu 37 8 70978618 70978618 + Silent SNP T T C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:70978618T>C ENST00000276594.2 - 5 1236 c.1035A>G c.(1033-1035)caA>caG p.Q345Q NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 345 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) ATATATGCCCTTGACACTGCA 0.468000 16 85 0 0 0.520397 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885956 88885956 + Missense_Mutation SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:88885956T>A ENST00000319675.3 - 1 340 c.244A>T c.(244-246)Aac>Tac p.N82Y NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 82 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TGGTCAGTGTTGGTATTCGCC 0.542000 14 127 0 0 0.520397 0 0 TP53 7157 broad.mit.edu 37 17 7574012 7574012 + Nonsense_Mutation SNP C C A rs17882252 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr17:7574012C>A ENST00000269305.4 - 10 1204 c.1015G>T c.(1015-1017)Gag>Tag p.E339* TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 339 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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) CGGAACATCTCGAAGCGCTCA 0.537000 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) 9 35 0.00136819 0.00151071 0.411799 1 0 FRAS1 80144 broad.mit.edu 37 4 79340120 79340120 + Silent SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr4:79340120G>T ENST00000264895.6 + 33 4883 c.4443G>T c.(4441-4443)ctG>ctT p.L1481L FRAS1_ENST00000325942.6_Silent_p.L1481L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1480 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AAGATGGCCTGACTGTTATTC 0.393000 25 86 3.80469e-20 6.06463e-20 0.740014 1 0 DST 667 broad.mit.edu 37 6 56374667 56374667 + Missense_Mutation SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr6:56374667T>A ENST00000370754.5 - 74 18691 c.18692A>T c.(18691-18693)cAt>cTt p.H6231L DST_ENST00000361203.3_Missense_Mutation_p.H5942L|DST_ENST00000446842.2_Missense_Mutation_p.H5727L|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.H3856L|DST_ENST00000370769.4_Missense_Mutation_p.H6053L|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Missense_Mutation_p.H3965L|DST_ENST00000244364.6_Missense_Mutation_p.H3639L Q03001 DYST_HUMAN dystonin 6051 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATCTTGTCATGGAACTAGGG 0.393000 9 29 0 0 0.335167 0 0 COL24A1 255631 broad.mit.edu 37 1 86342844 86342844 + Silent SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:86342844C>A ENST00000370571.2 - 33 3357 c.2991G>T c.(2989-2991)ctG>ctT p.L997L COL24A1_ENST00000436319.1_Silent_p.L997L NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 997 Collagen-like 8. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CATCACCTTGCAGTCCTCGCA 0.328000 11 44 9.05144e-12 1.2145e-11 0.435327 1 0 PLXNA1 5361 broad.mit.edu 37 3 126741074 126741074 + Silent SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr3:126741074G>T ENST00000393409.2 + 21 4185 c.4185G>T c.(4183-4185)acG>acT p.T1395T PLXNA1_ENST00000251772.4_Silent_p.T1372T NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1395 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TCATCATGACGGCCCTGCAGG 0.607000 7 51 1.76689e-08 2.21646e-08 0.335167 1 0 AMER1 139285 broad.mit.edu 37 X 63412796 63412796 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:63412796G>A ENST00000330258.3 - 2 643 c.371C>T c.(370-372)cCc>cTc p.P124L AMER1_ENST00000403336.1_Missense_Mutation_p.P124L|AMER1_ENST00000374869.3_Missense_Mutation_p.P124L NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) AAATTGGCAGGGTAACTCAGG 0.557000 7 76 0 0 0.278610 0 0 NOMO1 23420 broad.mit.edu 37 16 14982982 14982982 + Silent SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:14982982C>A ENST00000287667.7 + 29 3525 c.3354C>A c.(3352-3354)ctC>ctA p.L1118L NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1118 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 ACTCCACACTCCCCAGATCCC 0.418000 40 451 9.59835e-30 1.58973e-29 0.870114 1 0 TMEM185A 84548 broad.mit.edu 37 X 148690455 148690455 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:148690455C>A ENST00000316916.8 - 3 586 c.282G>T c.(280-282)ttG>ttT p.L94F TMEM185A_ENST00000507237.1_Missense_Mutation_p.L94F|TMEM185A_ENST00000536359.1_Missense_Mutation_p.L35F NM_032508.2 NP_115897.1 Q8NFB2 T185A_HUMAN transmembrane protein 185A 94 integral to membrane kidney(1)|large_intestine(3)|lung(10)|ovary(1) 15 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CAAACATCAACAAGAGCAAGT 0.473000 52 162 5.82388e-19 9.14565e-19 0.870114 1 0 PTPRB 5787 broad.mit.edu 37 12 70956767 70956767 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:70956767C>A ENST00000334414.6 - 16 4069 c.4025G>T c.(4024-4026)gGg>gTg p.G1342V PTPRB_ENST00000451516.2_Missense_Mutation_p.G1034V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1254V|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1124V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1034V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1341V|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1034V NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1124 Fibronectin type-III 15. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTGGAGATTCCCATCTGGGTT 0.512000 7 60 0.000157383 0.000181333 0.278610 1 0 TNN 63923 broad.mit.edu 37 1 175097242 175097242 + Silent SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:175097242C>T ENST00000239462.4 + 14 3233 c.3120C>T c.(3118-3120)tcC>tcT p.S1040S NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1040 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACCCTGTCTCCCTTGTTGCCT 0.532000 10 91 0 0 0.411799 0 0 TSPAN14 81619 broad.mit.edu 37 10 82277664 82277664 + Missense_Mutation SNP T T C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr10:82277664T>C ENST00000429989.2 + 9 968 c.745T>C c.(745-747)Ttt>Ctt p.F249L TSPAN14_ENST00000372158.1_Missense_Mutation_p.F249L|TSPAN14_ENST00000481124.1_Missense_Mutation_p.F126L|TSPAN14_ENST00000265450.5_3'UTR|TSPAN14_ENST00000372156.1_Missense_Mutation_p.F249L|TSPAN14_ENST00000341863.6_Missense_Mutation_p.F192L|TSPAN14_ENST00000372164.3_Missense_Mutation_p.F232L NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 249 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) GTTTCAGATATTTGGCATCTT 0.612000 2 5 0 0 0.115264 0 0 NPAP1 23742 broad.mit.edu 37 15 24921732 24921732 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr15:24921732C>A ENST00000329468.2 + 1 1192 c.718C>A c.(718-720)Ccc>Acc p.P240T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCCTGCCATGCCCAGCACACA 0.617000 27 62 3.90053e-15 5.70284e-15 0.760397 1 0 AFF2 2334 broad.mit.edu 37 X 147985783 147985783 + Silent SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:147985783T>A ENST00000370460.2 + 9 1871 c.1392T>A c.(1390-1392)ccT>ccA p.P464P AFF2_ENST00000342251.3_Silent_p.P431P|AFF2_ENST00000370457.5_Silent_p.P431P|AFF2_ENST00000370458.1_Silent_p.P425P|AFF2_ENST00000286437.5_Silent_p.P105P NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 464 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GGAATAATCCTGTGAAGTAAG 0.318000 12 148 0 0 0.387290 0 0 MSH6 2956 broad.mit.edu 37 2 48025765 48025765 + Missense_Mutation SNP G G A rs145959653 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr2:48025765G>A ENST00000234420.4 + 4 795 c.643G>A c.(643-645)Gta>Ata p.V215I FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Missense_Mutation_p.V85I NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 215 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CACAACTTACGTAACAGATAA 0.363000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 5 71 0 0 0.184627 0 0 COQ9 57017 broad.mit.edu 37 16 57490459 57490459 + Missense_Mutation SNP A A G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:57490459A>G ENST00000262507.6 + 4 491 c.422A>G c.(421-423)gAt>gGt p.D141G COQ9_ENST00000567933.1_Intron|COQ9_ENST00000567072.1_Missense_Mutation_p.D141G NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 141 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 TTCGGGAAGGATGGCAGTGAG 0.532000 29 81 0 0 0.779181 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 5 127 0 0 0.184627 0 0 OR4K5 79317 broad.mit.edu 37 14 20389313 20389313 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr14:20389313G>T ENST00000315915.4 + 1 573 c.548G>T c.(547-549)cGa>cTa p.R183L NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GATCTTCCTCGAGTCACCAAA 0.423000 56 501 7.92265e-33 1.32252e-32 0.870114 1 0 CCDC92 80212 broad.mit.edu 37 12 124421651 124421651 + Missense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:124421651C>T ENST00000545135.1 - 3 4195 c.899G>A c.(898-900)gGa>gAa p.G300E CCDC92_ENST00000545891.1_Missense_Mutation_p.G300E|CCDC92_ENST00000238156.3_Missense_Mutation_p.G317E|CCDC92_ENST00000544798.1_Intron Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 317 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) CACCTTGCCTCCGTTCACCTG 0.677000 8 125 0 0 0.307466 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280470 105280470 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:105280470G>T ENST00000327674.4 - 1 915 c.580C>A c.(580-582)Cca>Aca p.P194T SERPINA7_ENST00000372563.1_Missense_Mutation_p.P194T P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 194 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) ATGGTGTTTGGCTTGAGGTCT 0.428000 13 171 2.61681e-11 3.46728e-11 0.457914 1 0 TSPAN14 81619 broad.mit.edu 37 10 82277685 82277685 + Missense_Mutation SNP A A T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr10:82277685A>T ENST00000429989.2 + 9 989 c.766A>T c.(766-768)Acg>Tcg p.T256S TSPAN14_ENST00000372158.1_Missense_Mutation_p.T256S|TSPAN14_ENST00000481124.1_Missense_Mutation_p.T133S|TSPAN14_ENST00000265450.5_3'UTR|TSPAN14_ENST00000372156.1_Missense_Mutation_p.T256S|TSPAN14_ENST00000341863.6_Missense_Mutation_p.T199S|TSPAN14_ENST00000372164.3_Missense_Mutation_p.T239S NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 256 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) CCTGGCAAGGACGCTGATCTC 0.607000 3 6 0 0 0.150653 0 0 CD244 51744 broad.mit.edu 37 1 160808808 160808808 + Silent SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:160808808G>T ENST00000368034.4 - 4 864 c.687C>A c.(685-687)atC>atA p.I229I CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Silent_p.I229I|CD244_ENST00000322302.7_Silent_p.I137I|CD244_ENST00000368033.3_Silent_p.I234I NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 234 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTAGAATCACGATGATCACCA 0.517000 9 72 1.08611e-07 1.33869e-07 0.387290 1 0 JAKMIP3 282973 broad.mit.edu 37 10 133948565 133948565 + Silent SNP A A G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr10:133948565A>G ENST00000298622.4 + 4 1008 c.870A>G c.(868-870)aaA>aaG p.K290K NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TGGATGAAAAAGATGCCCGGC 0.498000 3 64 0 0 0.115264 0 0 MTMR12 54545 broad.mit.edu 37 5 32235101 32235101 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr5:32235101G>T ENST00000382142.3 - 14 1649 c.1479C>A c.(1477-1479)ttC>ttA p.F493L MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Missense_Mutation_p.F493L NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 493 Interaction with MTM1.|Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GTGAATTGAAGAAGAAGGTGC 0.423000 15 66 1.52009e-12 2.10627e-12 0.479597 1 0 UNC79 57578 broad.mit.edu 37 14 94038260 94038260 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr14:94038260G>T ENST00000553484.1 + 15 1930 c.1776G>T c.(1774-1776)aaG>aaT p.K592N UNC79_ENST00000256339.4_Missense_Mutation_p.K415N|UNC79_ENST00000393151.2_Missense_Mutation_p.K592N|UNC79_ENST00000555664.1_Missense_Mutation_p.K592N Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 592 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ACTGGGATAAGTCCTGTAGCA 0.453000 7 63 0.0293803 0.0311432 0.248553 1 0 RSRC2 65117 broad.mit.edu 37 12 123003576 123003576 + Missense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:123003576C>T ENST00000354654.2 - 4 375 c.64G>A c.(64-66)Gga>Aga p.G22R RSRC2_ENST00000331738.7_Splice_Site_p.G70_splice Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 70 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TGTCTTCTTCCCTGTTTTAAG 0.343000 6 33 0 0 0.217242 0 0 NLRP7 199713 broad.mit.edu 37 19 55450747 55450747 + Nonsense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:55450747G>T ENST00000446217.1 - 6 1926 c.1524C>A c.(1522-1524)taC>taA p.Y508* NLRP7_ENST00000340844.2_Nonsense_Mutation_p.Y480*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.Y480*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.Y480*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.Y480*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.Y480*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.Y480* Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 480 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCTCCAGGGCGTAGAACAGGG 0.592000 9 36 0.0692343 0.0723038 0.361761 1 0 C2 717 broad.mit.edu 37 6 31903772 31903772 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr6:31903772G>C ENST00000299367.5 + 7 1198 c.922G>C c.(922-924)Gtc>Ctc p.V308L CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Missense_Mutation_p.V62L|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.V176L NM_000063.4 NP_000054.2 complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) CCTCATGTCTGTCCTGAACGA 0.507000 18 54 0 0 0.539581 0 0 NPAP1 23742 broad.mit.edu 37 15 24921733 24921733 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr15:24921733C>A ENST00000329468.2 + 1 1193 c.719C>A c.(718-720)cCc>cAc p.P240H NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTGCCATGCCCAGCACACAC 0.617000 27 63 3.90053e-15 5.70284e-15 0.760397 1 0 AGL 178 broad.mit.edu 37 1 100329996 100329996 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:100329996G>T ENST00000294724.4 + 5 993 c.515G>T c.(514-516)tGc>tTc p.C172F AGL_ENST00000370163.3_Missense_Mutation_p.C172F|AGL_ENST00000361302.3_Missense_Mutation_p.C156F|AGL_ENST00000361522.4_Missense_Mutation_p.C155F|AGL_ENST00000370161.2_Missense_Mutation_p.C156F|AGL_ENST00000370165.3_Missense_Mutation_p.C172F|AGL_ENST00000361915.3_Missense_Mutation_p.C172F NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 172 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TCTAGGTCATGCTACTCCCTT 0.363000 19 98 1.5548e-18 2.38853e-18 0.693898 1 0 CSMD3 114788 broad.mit.edu 37 8 113259343 113259343 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:113259343C>G ENST00000297405.5 - 64 10372 c.10128G>C c.(10126-10128)caG>caC p.Q3376H CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3207H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3306H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3336H NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3376 Sushi 27. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGCAATGGAACTGTACAACAC 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 42 0 0 0.217242 0 0 THSD7A 221981 broad.mit.edu 37 7 11450930 11450930 + Silent SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr7:11450930C>G ENST00000423059.3 - 19 3953 c.3702G>C c.(3700-3702)ctG>ctC p.L1234L AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1234 TSP type-1 12. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCTTCTCACTCAGCTGACATG 0.413000 HNSCC(18;0.044) 8 63 0 0 0.361761 0 0 LMTK2 22853 broad.mit.edu 37 7 97821988 97821988 + Silent SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr7:97821988C>T ENST00000297293.5 + 11 2504 c.2211C>T c.(2209-2211)tcC>tcT p.S737S NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 737 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GCTCATTGTCCAGCAAAGAAC 0.323000 7 31 0 0 0.278610 0 0 ZNF492 57615 broad.mit.edu 37 19 22836767 22836767 + Missense_Mutation SNP G G T rs111905502 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:22836767G>T ENST00000456783.2 + 3 324 c.80G>T c.(79-81)gGa>gTa p.G27V NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) CTGGAGCAAGGAAAAGAACCT 0.423000 14 113 1.33834e-09 1.7092e-09 0.557998 1 0 OR5H6 79295 broad.mit.edu 37 3 97983585 97983585 + Missense_Mutation SNP A A T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr3:97983585A>T ENST00000383696.2 + 1 498 c.457A>T c.(457-459)Acc>Tcc p.T153S RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGTCATTATGACCAATGAACT 0.368000 11 75 0 0 0.457914 0 0 MIB1 57534 broad.mit.edu 37 18 19429241 19429241 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr18:19429241G>T ENST00000261537.6 + 17 2742 c.2478G>T c.(2476-2478)aaG>aaT p.K826N MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 826 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) CAGATATGAAGAGAGATACTC 0.388000 13 197 1.52009e-12 2.10627e-12 0.479597 1 0 TRPC5 7224 broad.mit.edu 37 X 111078272 111078272 + Missense_Mutation SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:111078272T>A ENST00000262839.2 - 7 2691 c.1773A>T c.(1771-1773)aaA>aaT p.K591N NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 591 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CGTGTCTGGCTTTCACATTGG 0.418000 42 489 0 0 0.870114 0 0 OTOGL 283310 broad.mit.edu 37 12 80626733 80626733 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:80626733G>C ENST00000458043.2 + 8 652 c.646G>C c.(646-648)Gtg>Ctg p.V216L OTOGL_ENST00000547103.1_Missense_Mutation_p.V216L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CTACATTCTTGTGAAAACAAC 0.403000 4 21 0 0 0.217242 0 0 DRAXIN 374946 broad.mit.edu 37 1 11769352 11769352 + Missense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:11769352C>T ENST00000294485.5 + 3 607 c.472C>T c.(472-474)Ccc>Tcc p.P158S NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein GGTCCGAGGTCCCAGCTCCCT 0.597000 13 37 0 0 0.500413 0 0 NKD1 85407 broad.mit.edu 37 16 50659416 50659416 + Silent SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:50659416C>A ENST00000268459.3 + 6 611 c.387C>A c.(385-387)tcC>tcA p.S129S NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 129 Interaction with DVL1, DVL2 and DVL3 (By similarity). Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GCGACGTGTCCATGGAGGAGG 0.612000 18 120 1.55795e-14 2.24683e-14 0.608945 1 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729120 37729120 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:37729120G>C ENST00000330843.4 - 4 3212 c.3200C>G c.(3199-3201)cCa>cGa p.P1067R RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1067 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) ACTGGGGCCTGGCAGCTGTTT 0.567000 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 302 0 0 0.681144 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 75 0 0 0.150653 0 0 CHST6 4166 broad.mit.edu 37 16 75512743 75512743 + Silent SNP G G A rs112748405 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:75512743G>A ENST00000332272.4 - 3 1163 c.984C>T c.(982-984)aaC>aaT p.N328N CHST6_ENST00000390664.2_Silent_p.N328N|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 328 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CCTGGGAGACGTTGAGCGCAT 0.647000 18 102 0 0 0.624587 0 0 MYH7 4625 broad.mit.edu 37 14 23885030 23885030 + Silent SNP A A G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr14:23885030A>G ENST00000355349.3 - 35 5127 c.4965T>C c.(4963-4965)atT>atC p.I1655I NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1655 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CGTCCAGCTGAATCTGGGTGT 0.597000 6 81 0 0 0.217242 0 0 TRIM58 25893 broad.mit.edu 37 1 248039575 248039575 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:248039575G>C ENST00000366481.3 + 6 1293 c.1245G>C c.(1243-1245)ttG>ttC p.L415F OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 415 B30.2/SPRY. intracellular zinc ion binding p.L415L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGATTTTCTTGGACTATGAAG 0.468000 34 207 0 0 0.819951 0 0 SPATA17 128153 broad.mit.edu 37 1 218036183 218036183 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:218036183G>C ENST00000366933.4 + 10 1128 c.1073G>C c.(1072-1074)gGa>gCa p.G358A SPATA17_ENST00000471021.1_3'UTR NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 358 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TCAAAAGCTGGACAGATTGTA 0.308000 13 178 0 0 0.435327 0 0 DDR1 780 broad.mit.edu 37 6 30866958 30866958 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr6:30866958G>T ENST00000324771.8 + 20 3175 c.2627G>T c.(2626-2628)tGc>tTc p.C876F DDR1_ENST00000376570.4_Missense_Mutation_p.C839F|DDR1_ENST00000376567.2_Missense_Mutation_p.C839F|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000454612.2_Missense_Mutation_p.C839F|DDR1_ENST00000376575.3_Missense_Mutation_p.C882F|DDR1_ENST00000452441.1_Missense_Mutation_p.C876F|DDR1_ENST00000513240.1_Missense_Mutation_p.C882F|DDR1_ENST00000376569.3_Missense_Mutation_p.C839F|DDR1_ENST00000508312.1_Missense_Mutation_p.C857F|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.C876F|DDR1_ENST00000418800.2_Missense_Mutation_p.C839F Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 876 Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CCGCCTGCCTGCCCGCAGGGC 0.577000 47 144 9.55421e-19 1.48933e-18 0.870114 1 0 DKK1 22943 broad.mit.edu 37 10 54076112 54076112 + Missense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr10:54076112C>T ENST00000373970.3 + 3 603 c.464C>T c.(463-465)aCt>aTt p.T155I DKK1_ENST00000467359.1_3'UTR NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 155 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 GAAACCATCACTGAAAGCTTT 0.388000 10 42 0 0 0.361761 0 0 FMN2 56776 broad.mit.edu 37 1 240601428 240601428 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:240601428G>A ENST00000319653.9 + 16 5208 c.4978G>A c.(4978-4980)Gct>Act p.A1660T FMN2_ENST00000545751.1_Missense_Mutation_p.A256T NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1660 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GTCCCCAAATGCTTTCTTCAG 0.388000 20 99 0 0 0.639603 0 0 GPR158 57512 broad.mit.edu 37 10 25888106 25888106 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr10:25888106C>A ENST00000376351.3 + 11 3910 c.3551C>A c.(3550-3552)gCt>gAt p.A1184D GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1184 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAACCAAATGCTGGAAGAAGT 0.448000 5 44 0.00116845 0.00129691 0.217242 1 0 MLST8 64223 broad.mit.edu 37 16 2258335 2258335 + Splice_Site SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:2258335C>T ENST00000569417.1 + 7 1052 c.698_splice c.e7+1 p.T233_splice MLST8_ENST00000382450.4_Splice_Site_p.T232_splice|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000564088.1_Splice_Site_p.T233_splice|MLST8_ENST00000565250.1_Splice_Site_p.T233_splice|MLST8_ENST00000301724.10_Splice_Site_p.T233_splice|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000397124.1_Splice_Site_p.T233_splice NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 233 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 CCCGACTCCACGTGCGTGCAG 0.697000 18 265 0 0 0.624587 0 0 SPRYD7 57213 broad.mit.edu 37 13 50502073 50502073 + Silent SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr13:50502073C>A ENST00000378195.2 - 2 509 c.255G>T c.(253-255)ccG>ccT p.P85P SPRYD7_ENST00000361840.3_Silent_p.P124P NM_001127482.1 NP_001120954.1 Q5W111 SPRY7_HUMAN SPRY domain containing 7 124 B30.2/SPRY. haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2) 6 CTCCTTCCTGCGGAAGACTGT 0.448000 6 71 0.0381472 0.0400357 0.278610 1 0 ENOX2 10495 broad.mit.edu 37 X 129759318 129759318 + Silent SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:129759318G>A ENST00000338144.3 - 16 2220 c.1803C>T c.(1801-1803)ttC>ttT p.F601F ENOX2_ENST00000370927.1_Silent_p.F601F|ENOX2_ENST00000394363.1_Silent_p.F572F|ENOX2_ENST00000370935.1_Silent_p.F572F NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 601 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 CGAAGCCACAGAATTTCCATC 0.453000 18 72 0 0 0.654019 0 0 U2AF2 11338 broad.mit.edu 37 19 56166500 56166500 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:56166500G>T ENST00000450554.2 + 1 989 c.30G>T c.(28-30)caG>caT p.Q10H U2AF2_ENST00000308924.4_Missense_Mutation_p.Q10H NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 10 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TCGAGCGGCAGCTCAACGAGA 0.682000 4 52 0.00198382 0.00215677 0.248553 1 0 CACNG4 27092 broad.mit.edu 37 17 65026879 65026879 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr17:65026879G>A ENST00000262138.3 + 4 745 c.743G>A c.(742-744)aGg>aAg p.R248K NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 248 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) TCCAGCTCAAGGTCCACCGAG 0.612000 34 65 0 0 0.812448 0 0 MIR523 574471 broad.mit.edu 37 19 54201697 54201697 + RNA SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:54201697G>T ENST00000385281.1 + 0 59 NR_030193.1 AAAAGAACGCGCTTCCCTATA 0.443000 16 41 2.31682e-05 2.79072e-05 0.479597 1 0 THPO 7066 broad.mit.edu 37 3 184090731 184090731 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr3:184090731G>T ENST00000204615.7 - 6 846 c.632C>A c.(631-633)gCc>gAc p.A211D THPO_ENST00000421442.2_Missense_Mutation_p.S172R|THPO_ENST00000477594.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.A207D NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 211 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGTAGTTCTGGCTGAGGCAGT 0.552000 7 41 0.00198382 0.00215677 0.248553 1 0 HSPA12A 259217 broad.mit.edu 37 10 118440687 118440687 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr10:118440687G>T ENST00000369209.3 - 9 1107 c.1003C>A c.(1003-1005)Ctt>Att p.L335I NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 335 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) AGTTCCTTAAGGTGTCCCTCC 0.488000 5 77 0.014758 0.0158015 0.184627 1 0 COLGALT2 23127 broad.mit.edu 37 1 183938417 183938417 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:183938417G>C ENST00000361927.4 - 5 1189 c.818C>G c.(817-819)tCc>tGc p.S273C COLGALT2_ENST00000546159.1_Missense_Mutation_p.S273C NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 TTGCCTGCTGGAGAAGGCAAA 0.458000 13 101 0 0 0.479597 0 0 LRRK1 79705 broad.mit.edu 37 15 101606941 101606941 + Silent SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr15:101606941G>T ENST00000284395.5 + 34 6256 c.5856G>T c.(5854-5856)ccG>ccT p.P1952P LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.P1955P Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1955 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGCTGACTCCGCATGGGTAAG 0.597000 48 130 2.43468e-25 3.9704e-25 0.870114 1 0 PALB2 79728 broad.mit.edu 37 16 23614846 23614846 + Silent SNP C C T rs45439097 byFrequency TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:23614846C>T ENST00000261584.4 - 13 3647 c.3495G>A c.(3493-3495)tcG>tcA p.S1165S NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1165 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) AGTCTGTACCCGACCATTTCA 0.413000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 8 130 0 0 0.387290 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29493475 29493475 + Missense_Mutation SNP T T C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr18:29493475T>C ENST00000283351.4 - 5 963 c.628A>G c.(628-630)Att>Gtt p.I210V TRAPPC8_ENST00000582513.1_Missense_Mutation_p.I210V|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.I156V NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 210 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TCTTCATAAATTGATTCAGCT 0.313000 4 9 0 0 0.150653 0 0 CAPNS1 826 broad.mit.edu 37 19 36631958 36631958 + Silent SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:36631958C>G ENST00000246533.3 + 2 643 c.45C>G c.(43-45)ggC>ggG p.G15G CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G NM_001003962.1|NM_001749.2 NP_001003962.1|NP_001740.1 P04632 CPNS1_HUMAN calpain, small subunit 1 15 Gly-rich (hydrophobic).|Poly-Gly. positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) gcggcggcggcgggggaggcg 0.736000 3 34 0 0 0.115264 0 0 KANK2 25959 broad.mit.edu 37 19 11303852 11303852 + Nonsense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:11303852C>A ENST00000432929.2 - 4 1264 c.904G>T c.(904-906)Gag>Tag p.E302* KANK2_ENST00000355150.5_Nonsense_Mutation_p.E302*|KANK2_ENST00000589894.1_Nonsense_Mutation_p.E302*|KANK2_ENST00000589359.1_Nonsense_Mutation_p.E302*|KANK2_ENST00000586659.1_Nonsense_Mutation_p.E302* NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 302 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCCTGCAGCTCCTGCAGCGCC 0.697000 8 38 4.68919e-08 5.8135e-08 0.361761 1 0 NUP210L 91181 broad.mit.edu 37 1 154098868 154098868 + Nonsense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:154098868G>T ENST00000368559.3 - 10 1328 c.1257C>A c.(1255-1257)taC>taA p.Y419* NUP210L_ENST00000271854.3_Nonsense_Mutation_p.Y419* NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 419 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTACTATATGGTAAGATCCAT 0.393000 8 103 9.70103e-10 1.24643e-09 0.361761 1 0 RASGRF1 5923 broad.mit.edu 37 15 79327546 79327546 + Silent SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr15:79327546G>T ENST00000419573.3 - 6 1159 c.885C>A c.(883-885)acC>acA p.T295T RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.T295T NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 295 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AAAACATGATGGTTTCGCTGA 0.582000 5 27 3.59834e-05 4.26172e-05 0.217242 1 0 PEG3 5178 broad.mit.edu 37 19 57335025 57335025 + Silent SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:57335025G>T ENST00000326441.9 - 5 780 c.417C>A c.(415-417)acC>acA p.T139T ZIM2_ENST00000593711.1_Silent_p.T13T|ZIM2_ENST00000221722.5_Silent_p.T13T|ZIM2_ENST00000391708.3_Silent_p.T13T|ZIM2_ENST00000593931.1_Silent_p.T13T|PEG3_ENST00000423103.2_Silent_p.T139T|ZIM2_ENST00000601070.1_Silent_p.T13T|PEG3_ENST00000598410.1_Silent_p.T13T|ZIM2_ENST00000599935.1_Silent_p.T13T|PEG3_ENST00000593695.1_Silent_p.T13T NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 139 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CGTCGTCGCTGGTCACGTCAC 0.552000 24 104 9.80776e-20 1.55168e-19 0.706142 1 0 MYOM2 9172 broad.mit.edu 37 8 2044089 2044089 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:2044089G>A ENST00000262113.4 + 18 2269 c.2128G>A c.(2128-2130)Gtc>Atc p.V710I MYOM2_ENST00000523438.1_Missense_Mutation_p.V135I NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 710 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCTTGCAGCCGTCCCGTCCCA 0.617000 23 214 0 0 0.654019 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 166 192 0 0 0.870114 0 0 EFNB1 1947 broad.mit.edu 37 X 68060199 68060199 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:68060199G>T ENST00000204961.4 + 5 1523 c.743G>T c.(742-744)tGc>tTc p.C248F NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 248 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 GGTGCCGGTTGCGTCATCTTC 0.612000 5 54 3.59834e-05 4.26172e-05 0.217242 1 0 TMLHE 55217 broad.mit.edu 37 X 154743762 154743762 + Nonsense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:154743762C>A ENST00000334398.3 - 4 668 c.523G>T c.(523-525)Gag>Tag p.E175* TMLHE_ENST00000369439.4_Nonsense_Mutation_p.E175*|TMLHE-AS1_ENST00000452506.1_RNA NM_018196.3 NP_060666.1 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 175 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) TTCAGTCCCTCGTTGGTTTCT 0.438000 8 130 4.68919e-08 5.8135e-08 0.361761 1 0 PCDHA13 56136 broad.mit.edu 37 5 140262054 140262054 + Silent SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr5:140262054G>A ENST00000289272.2 + 1 201 c.201G>A c.(199-201)gcG>gcA p.A67A PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.A67A|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGGGTGGCGTCCAAAAGAC 0.632000 57 184 0 0 0.870114 0 0 MTDH 92140 broad.mit.edu 37 8 98718868 98718868 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:98718868G>T ENST00000336273.3 + 8 1490 c.1162G>T c.(1162-1164)Gct>Tct p.A388S MTDH_ENST00000519934.1_Missense_Mutation_p.A332S NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 388 Lung-homing for mammary tumors (By similarity). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) TCTGTCTTCTGCTGATCCCAA 0.388000 26 132 6.38683e-12 8.67954e-12 0.729181 1 0 TOP2A 7153 broad.mit.edu 37 17 38548934 38548934 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr17:38548934C>G ENST00000423485.1 - 30 4025 c.3867G>C c.(3865-3867)aaG>aaC p.K1289N NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1289 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding p.K1289N(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GATTTCTCTTCTTTCCTTTTT 0.398000 21 112 0 0 0.608945 0 0 SLC37A2 219855 broad.mit.edu 37 11 124947410 124947410 + Silent SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:124947410C>T ENST00000403796.2 + 4 601 c.300C>T c.(298-300)atC>atT p.I100I SLC37A2_ENST00000407458.1_Silent_p.I100I|SLC37A2_ENST00000308074.4_Silent_p.I100I|SLC37A2_ENST00000298280.5_Silent_p.I100I NM_001145290.1 NP_001138762.1 Q8TED4 SPX2_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 2 100 carbohydrate transport|transmembrane transport integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) CCTATGCCATCGGCATGTTCA 0.532000 3 38 0 0 0.115264 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178081321 178081321 + Splice_Site SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr2:178081321G>T ENST00000411529.2 + 5 628 c.e5+1 HNRNPA3_ENST00000392524.2_Splice_Site|HNRNPA3_ENST00000435711.1_Splice_Site NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 TCACAGAGAGGTGAGTAGGAC 0.398000 8 123 6.40141e-05 7.49779e-05 0.387290 1 0 ANO5 203859 broad.mit.edu 37 11 22291917 22291917 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:22291917G>A ENST00000324559.8 + 18 2275 c.1958G>A c.(1957-1959)aGt>aAt p.S653N NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 653 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AAGCTGTATAGTCGATGGGAG 0.398000 13 89 0 0 0.500413 0 0 ZNF432 9668 broad.mit.edu 37 19 52538153 52538153 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:52538153G>C ENST00000594154.1 - 5 991 c.779C>G c.(778-780)tCt>tGt p.S260C ZNF432_ENST00000221315.5_Missense_Mutation_p.S260C O94892 ZN432_HUMAN zinc finger protein 432 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S260Y(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) GCATATAAAAGATTTCTCTCT 0.373000 5 82 0 0 0.184627 0 0 RBMXL1 494115 broad.mit.edu 37 1 89448433 89448433 + Silent SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:89448433T>A ENST00000399794.2 - 3 1792 c.1077A>T c.(1075-1077)tcA>tcT p.S359S RBMXL1_ENST00000321792.5_Silent_p.S359S|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 359 Ser-rich. nucleotide binding|RNA binding AGGAATCACGTGAAGAAGGGT 0.537000 34 109 0 0 0.779181 0 0 SLC15A4 121260 broad.mit.edu 37 12 129293374 129293374 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:129293374G>A ENST00000266771.5 - 5 1256 c.1217C>T c.(1216-1218)gCc>gTc p.A406V SLC15A4_ENST00000544112.1_Missense_Mutation_p.A69V NM_145648.3 NP_663623.1 Q8N697 S15A4_HUMAN solute carrier family 15 (oligopeptide transporter), member 4 406 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1) 22 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) CATGCCCACGGCGATCCTCTT 0.552000 15 70 0 0 0.500413 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 62 0 0 0.115264 0 0 CREB5 9586 broad.mit.edu 37 7 28848987 28848987 + Nonsense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr7:28848987G>T ENST00000357727.2 + 9 1600 c.1210G>T c.(1210-1212)Gaa>Taa p.E404* CREB5_ENST00000396298.2_Nonsense_Mutation_p.E265*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.E371*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.E371*|CREB5_ENST00000396300.2_Nonsense_Mutation_p.E397* NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 404 Leucine-zipper. positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 GATGTCATTGGAAAAGAAAGC 0.577000 33 88 4.4194e-11 5.81934e-11 0.769981 1 0 ACSM5 54988 broad.mit.edu 37 16 20432607 20432607 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:20432607G>A ENST00000331849.4 + 5 798 c.651G>A c.(649-651)atG>atA p.M217I NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 217 M -> V (in dbSNP:rs59025904). fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 ACAACTGCATGAGGACAAAGA 0.512000 7 104 0 0 0.387290 0 0 ACP5 54 broad.mit.edu 37 19 11687316 11687316 + Silent SNP T T A rs147105591 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:11687316T>A ENST00000592828.1 - 6 879 c.477A>T c.(475-477)acA>acT p.T159T ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Silent_p.T159T|ACP5_ENST00000218758.5_Silent_p.T159T|ACP5_ENST00000433365.2_Silent_p.T159T NM_001111034.1 NP_001104504.1 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 159 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 9 TGCCACATAGTGTCACTGTGT 0.562000 7 65 0 0 0.278610 0 0 NFASC 23114 broad.mit.edu 37 1 204985460 204985460 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:204985460G>T ENST00000367172.4 + 32 4165 c.3837G>T c.(3835-3837)caG>caT p.Q1279H NFASC_ENST00000360049.4_Missense_Mutation_p.Q1101H|NFASC_ENST00000367170.4_Missense_Mutation_p.Q1200H|NFASC_ENST00000338515.6_Missense_Mutation_p.Q1189H|NFASC_ENST00000367169.4_Missense_Mutation_p.Q1003H|NFASC_ENST00000404076.1_Missense_Mutation_p.Q1089H|NFASC_ENST00000401399.1_Missense_Mutation_p.Q1172H|NFASC_ENST00000404907.1_Missense_Mutation_p.Q1106H|NFASC_ENST00000539706.1_Missense_Mutation_p.Q1106H|NFASC_ENST00000339876.6_Missense_Mutation_p.Q1172H|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000513543.1_Missense_Mutation_p.Q1101H|NFASC_ENST00000367171.4_Missense_Mutation_p.Q1264H|NFASC_ENST00000338586.6_Missense_Mutation_p.Q1156H O94856 NFASC_HUMAN neurofascin 1279 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGCCCCTGCAGGGCAGTCAGA 0.592000 22 342 1.2476e-16 1.86261e-16 0.706142 1 0 PRDM8 56978 broad.mit.edu 37 4 81123265 81123265 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr4:81123265C>G ENST00000339711.4 + 10 1880 c.649C>G c.(649-651)Cag>Gag p.Q217E PRDM8_ENST00000415738.2_Missense_Mutation_p.Q217E|PRDM8_ENST00000504452.1_Missense_Mutation_p.Q217E NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 gcagcagcagcagGAGGCACC 0.672000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 35 0 0 0.115264 0 0 WHAMMP2 440253 broad.mit.edu 37 15 28999701 28999701 + RNA SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr15:28999701G>T ENST00000512149.2 + 0 379 NR_026589.1 GTATTCAGATGGTGAGTGTCC 0.463000 5 32 0.184627 0.187277 0.184627 1 0 KIAA1033 23325 broad.mit.edu 37 12 105538175 105538175 + Silent SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:105538175G>T ENST00000332180.5 + 21 2208 c.2121G>T c.(2119-2121)ctG>ctT p.L707L NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 707 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TGAAAGACCTGGCTCTTTTTT 0.373000 7 97 0.000673444 0.000755398 0.361761 1 0 MARCH1 55016 broad.mit.edu 37 4 164449968 164449968 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr4:164449968C>A ENST00000503008.1 - 8 1778 c.802G>T c.(802-804)Gta>Tta p.V268L MARCH1_ENST00000339875.5_Missense_Mutation_p.V251L|MARCH1_ENST00000514618.1_Missense_Mutation_p.V524L|MARCH1_ENST00000274056.7_Missense_Mutation_p.V268L NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 268 Responsible for down-regulation of CD86 and MHC class II cell surface expression (By similarity). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GTTTGTGGTACAGGCACTACC 0.453000 5 65 0.184627 0.187277 0.184627 1 0 SLITRK5 26050 broad.mit.edu 37 13 88329425 88329425 + Silent SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr13:88329425G>A ENST00000325089.6 + 2 2001 c.1782G>A c.(1780-1782)gcG>gcA p.A594A SLITRK5_ENST00000400028.3_Silent_p.A353A NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 594 LRRCT 2. integral to membrane p.A594A(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TCTGTAAGGCGCCCAAAAAAT 0.527000 18 210 0 0 0.557998 0 0 AXDND1 126859 broad.mit.edu 37 1 179363129 179363129 + Missense_Mutation SNP A A C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:179363129A>C ENST00000367618.3 + 10 1342 c.955A>C c.(955-957)Att>Ctt p.I319L AXDND1_ENST00000457238.2_Missense_Mutation_p.I319L|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 319 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GGACCAGCGCATTTTAGAAGA 0.383000 23 132 0 0 0.729181 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 4 36 0 0 0.150653 0 0 UBQLN4 56893 broad.mit.edu 37 1 156021524 156021524 + Missense_Mutation SNP A A T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:156021524A>T ENST00000368309.3 - 2 325 c.233T>A c.(232-234)gTc>gAc p.V78D UBQLN4_ENST00000368307.1_Missense_Mutation_p.V78D|UBQLN4_ENST00000472638.1_5'UTR NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 78 Ubiquitin-like. cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) GACCAGATGGACAGTGAGCCC 0.517000 21 94 0 0 0.654019 0 0 TIAM1 7074 broad.mit.edu 37 21 32639182 32639182 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr21:32639182G>A ENST00000286827.3 - 5 578 c.107C>T c.(106-108)aCg>aTg p.T36M TIAM1_ENST00000541036.1_Missense_Mutation_p.T36M|TIAM1_ENST00000469412.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 36 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GGTCCTCCGCGTCTTGTGCGA 0.607000 9 46 0 0 0.335167 0 0 OR5D16 390144 broad.mit.edu 37 11 55606983 55606983 + Silent SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:55606983C>A ENST00000378396.1 + 1 756 c.756C>A c.(754-756)atC>atA p.I252I NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CCATCACCATCTTCCATGGCA 0.522000 17 118 0.000132079 0.00015385 0.575678 1 0 TRIP6 7205 broad.mit.edu 37 7 100470331 100470331 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr7:100470331G>T ENST00000200457.4 + 8 1624 c.1264G>T c.(1264-1266)Gat>Tat p.D422Y NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 422 LIM zinc-binding 3. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) TGTTGCTCTGGATCGAAGTTT 0.577000 17 65 7.45023e-12 1.00602e-11 0.592651 1 0 SPEF2 79925 broad.mit.edu 37 5 35759701 35759701 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr5:35759701G>T ENST00000440995.2 + 25 3485 c.3485G>T c.(3484-3486)aGa>aTa p.R1162I SPEF2_ENST00000356031.3_Missense_Mutation_p.R1167I|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1167 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATACAAAGAGACTCCTTCAA 0.373000 34 200 6.50621e-10 8.46207e-10 0.769981 1 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011439 46011439 + Silent SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr21:46011439G>A ENST00000400368.1 - 1 947 c.927C>T c.(925-927)caC>caT p.H309H TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 309 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 TGCACACAGGGTGGCAGAGGA 0.677000 64 202 0 0 0.870114 0 0 PTPRD 5789 broad.mit.edu 37 9 8486032 8486032 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr9:8486032C>G ENST00000381196.4 - 25 3328 c.2785G>C c.(2785-2787)Ggc>Cgc p.G929R PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.G929R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G916R|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.G907R|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.G929R NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 929 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GAAGTGGTGCCTTCTGAGTGA 0.468000 TSP Lung(15;0.13) 4 50 0 0 0.217242 0 0 ZMYND12 84217 broad.mit.edu 37 1 42905682 42905682 + Missense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:42905682C>T ENST00000372565.3 - 4 708 c.439G>A c.(439-441)Gtt>Att p.V147I ZMYND12_ENST00000433602.2_Missense_Mutation_p.V37I NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 147 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCAGCCTGAACGATTCGGCCC 0.443000 23 72 0 0 0.667858 0 0 PPP6R2 9701 broad.mit.edu 37 22 50878172 50878172 + Missense_Mutation SNP C C T rs148549099 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr22:50878172C>T ENST00000359139.3 + 19 2487 c.2093C>T c.(2092-2094)aCg>aTg p.T698M PPP6R2_ENST00000395744.3_Missense_Mutation_p.T697M|PPP6R2_ENST00000216061.5_Missense_Mutation_p.T724M|PPP6R2_ENST00000395741.3_Missense_Mutation_p.T698M NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 724 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GCGAACTCAACGCCCACAGCC 0.632000 7 34 0 0 0.278610 0 0 SLC7A5 8140 broad.mit.edu 37 16 87870252 87870252 + Splice_Site SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:87870252C>A ENST00000261622.4 - 8 1207 c.1140_splice c.e8-1 p.C381_splice RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Splice_Site_p.C115_splice NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 381 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) CGTCATCACACACTGGAAGAG 0.642000 12 41 1.37285e-15 2.03528e-15 0.500413 1 0 MS4A10 341116 broad.mit.edu 37 11 60561459 60561459 + Silent SNP G G T rs59605421 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:60561459G>T ENST00000308287.1 + 5 471 c.375G>T c.(373-375)ctG>ctT p.L125L NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 125 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 TGTTGTGCCTGATGACAAACC 0.507000 16 122 9.16793e-09 1.15691e-08 0.520397 1 0 PLCB1 23236 broad.mit.edu 37 20 8862309 8862309 + Missense_Mutation SNP A A G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr20:8862309A>G ENST00000338037.6 + 32 3491 c.3464A>G c.(3463-3465)aAa>aGa p.K1155R PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1155 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GACAAATTCAAAAGACTGCCC 0.478000 85 146 0 0 0.870114 0 0 BOD1L1 259282 broad.mit.edu 37 4 13616371 13616371 + Missense_Mutation SNP A A G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr4:13616371A>G ENST00000040738.5 - 4 758 c.623T>C c.(622-624)aTa>aCa p.I208T NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 208 DNA binding AAGAGAAGTTATGGTTTCCAA 0.418000 6 27 0 0 0.307466 0 0 DCUN1D4 23142 broad.mit.edu 37 4 52779533 52779533 + Silent SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr4:52779533C>T ENST00000334635.5 + 10 978 c.798C>T c.(796-798)ctC>ctT p.L266L DCUN1D4_ENST00000381441.3_Silent_p.L231L|DCUN1D4_ENST00000451288.2_Silent_p.L310L|DCUN1D4_ENST00000381437.4_Silent_p.L206L NM_001040402.1 NP_001035492.1 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain containing 4 266 DCUN1. endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) ATCTTGACCTCAGCAACTATG 0.388000 16 66 0 0 0.592651 0 0 HCN1 348980 broad.mit.edu 37 5 45267353 45267353 + Missense_Mutation SNP T T C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr5:45267353T>C ENST00000303230.4 - 7 1678 c.1621A>G c.(1621-1623)Att>Gtt p.I541V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 541 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGCAGGCAAATCTCTATAAAA 0.398000 15 124 0 0 0.575678 0 0 BMP1 649 broad.mit.edu 37 8 22059403 22059403 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:22059403G>C ENST00000306385.5 + 16 2865 c.2195G>C c.(2194-2196)gGc>gCc p.G732A BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 732 EGF-like 2; calcium-binding (Potential). cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TGCCGCAGTGGCTTCGTCCTC 0.597000 5 28 0 0 0.248553 0 0 DRAXIN 374946 broad.mit.edu 37 1 11772462 11772462 + Missense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:11772462G>A ENST00000294485.5 + 5 958 c.823G>A c.(823-825)Gac>Aac p.D275N NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein GGAACCATGCGACCATCACCA 0.582000 19 110 0 0 0.608945 0 0 SEPT6 23157 broad.mit.edu 37 X 118797511 118797511 + Missense_Mutation SNP T T C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:118797511T>C ENST00000394610.1 - 3 539 c.275A>G c.(274-276)aAc>aGc p.N92S SEPT6_ENST00000394617.2_Missense_Mutation_p.N122S|SEPT6_ENST00000343984.5_Missense_Mutation_p.N92S|SEPT6_ENST00000394616.4_Missense_Mutation_p.N34S|SEPT6_ENST00000360156.7_Missense_Mutation_p.N92S|SEPT6_ENST00000354416.3_Missense_Mutation_p.N92S|SEPT6_ENST00000354228.4_Missense_Mutation_p.N92S|SEPT6_ENST00000489216.1_Missense_Mutation_p.N92S NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 92 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 TAGCCTCACGTTGCTCTCTTG 0.552000 T MLL AML 168 512 0 0 0.870114 0 0 GPR101 83550 broad.mit.edu 37 X 136113329 136113329 + Missense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:136113329C>T ENST00000298110.1 - 1 504 c.505G>A c.(505-507)Ggc>Agc p.G169S NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 169 integral to membrane|plasma membrane G-protein coupled receptor activity p.G169S(1) autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) TGGCCCCAGCCGTAGAGTGGA 0.607000 4 57 0 0 0.150653 0 0 PLS1 5357 broad.mit.edu 37 3 142396905 142396905 + Missense_Mutation SNP A A G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr3:142396905A>G ENST00000337777.3 + 6 742 c.529A>G c.(529-531)Att>Gtt p.I177V PLS1_ENST00000497002.1_Missense_Mutation_p.I177V|PLS1_ENST00000457734.2_Missense_Mutation_p.I177V NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 177 Actin-binding 1.|CH 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 ACCAGATACAATTGATGAAAG 0.289000 3 51 0 0 0.150653 0 0 U2AF2 11338 broad.mit.edu 37 19 56166501 56166501 + Missense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:56166501C>T ENST00000450554.2 + 1 990 c.31C>T c.(31-33)Ctc>Ttc p.L11F U2AF2_ENST00000308924.4_Missense_Mutation_p.L11F NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 11 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CGAGCGGCAGCTCAACGAGAA 0.682000 4 52 0 0 0.248553 0 0 FAM127C 441518 broad.mit.edu 37 X 134156269 134156269 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:134156269C>G ENST00000391440.1 - 1 290 c.221G>C c.(220-222)gGg>gCg p.G74A NM_001078173.1 NP_001071641.1 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 74 breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6 Acute lymphoblastic leukemia(192;0.000127) CAGGGCGGGCCCCGTGAGGCG 0.602000 12 136 0 0 0.411799 0 0 CWF19L2 143884 broad.mit.edu 37 11 107205608 107205608 + Splice_Site SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:107205608G>C ENST00000282251.5 - 16 2465 c.2439_splice c.e16+1 p.S813_splice NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 813 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) CATACTTACAGACTTTCTGAT 0.343000 8 74 0 0 0.335167 0 0 NXF2 56001 broad.mit.edu 37 X 101581405 101581405 + Nonsense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:101581405G>T ENST00000395088.2 + 34 3730 c.1858G>T c.(1858-1860)Gag>Tag p.E620* NXF2_ENST00000372763.1_3'UTR|NXF2_ENST00000372757.1_Nonsense_Mutation_p.E620*|NXF2_ENST00000372758.1_Nonsense_Mutation_p.E620*|NXF2_ENST00000330252.5_Nonsense_Mutation_p.E620* Q9GZY0 NXF2_HUMAN nuclear RNA export factor 2 620 TAP-C. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|RNA binding endometrium(2)|lung(2) 4 GATCCCCGCAGAGGCCTTCAA 0.512000 12 77 1.52009e-12 2.10627e-12 0.479597 1 0 SARNP 84324 broad.mit.edu 37 12 56211462 56211462 + Silent SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:56211462G>A ENST00000336133.3 - 1 78 c.24C>T c.(22-24)ctC>ctT p.L8L SARNP_ENST00000444631.2_5'UTR|SARNP_ENST00000552080.1_Silent_p.L8L|RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron NM_033082.3 NP_149073.1 SAP domain containing ribonucleoprotein breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 TTAGCTTATGGAGCTCCACCG 0.587000 14 125 0 0 0.539581 0 0 FMR1NB 158521 broad.mit.edu 37 X 147084783 147084783 + Nonsense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:147084783C>T ENST00000370467.3 + 2 414 c.340C>T c.(340-342)Caa>Taa p.Q114* NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 114 integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) TGCTCATGGCCAATCTCTGGA 0.358000 7 102 0 0 0.248553 0 0 KMT2D 8085 broad.mit.edu 37 12 49436376 49436376 + Silent SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:49436376T>A ENST00000301067.7 - 27 5834 c.5835A>T c.(5833-5835)ccA>ccT p.P1945P NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGCAGAGGCCTGGGTAGGAGT 0.557000 4 22 0 0 0.184627 0 0 FIZ1 84922 broad.mit.edu 37 19 56104103 56104103 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:56104103C>G ENST00000221665.3 - 3 1293 c.1204G>C c.(1204-1206)Gaa>Caa p.E402Q NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding p.E402K(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GACGGGGGTTCCCCGGACGCC 0.736000 7 65 0 0 0.278610 0 0 GRID2 2895 broad.mit.edu 37 4 94376964 94376964 + Missense_Mutation SNP A A T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr4:94376964A>T ENST00000282020.4 + 11 1955 c.1697A>T c.(1696-1698)gAt>gTt p.D566V GRID2_ENST00000510992.1_Missense_Mutation_p.D471V NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 566 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GCACCATTTGATCTCTCTCTA 0.488000 43 94 0 0 0.870114 0 0 NR0B1 190 broad.mit.edu 37 X 30327114 30327114 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:30327114C>A ENST00000378970.4 - 1 601 c.367G>T c.(367-369)Ggg>Tgg p.G123W NR0B1_ENST00000453287.1_Missense_Mutation_p.G123W NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 123 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) ACGGGCCGCCCACCCGGAAGC 0.672000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 44 1.66031e-10 2.17275e-10 0.667858 1 0 CHL1 10752 broad.mit.edu 37 3 432804 432804 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr3:432804C>A ENST00000256509.2 + 22 3395 c.2753C>A c.(2752-2754)cCt>cAt p.P918H CHL1_ENST00000397491.2_Missense_Mutation_p.P902H NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 902 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GGAGCTGGTCCTGAAAGTGAG 0.383000 7 60 0.00307968 0.00333108 0.278610 1 0 TTN 7273 broad.mit.edu 37 2 179579037 179579037 + Missense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr2:179579037C>T ENST00000589042.1 - 91 26688 c.26464G>A c.(26464-26466)Gcc>Acc p.A8822T TTN_ENST00000342992.6_Missense_Mutation_p.A7578T|TTN_ENST00000591111.1_Missense_Mutation_p.A8505T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8505 Ig-like 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATAGCGTGGCGAAGCACTCT 0.403000 16 152 0 0 0.592651 0 0 ARL13A 392509 broad.mit.edu 37 X 100242379 100242379 + Splice_Site SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:100242379G>T ENST00000450049.2 + 6 600 c.486_splice c.e6-1 p.E163_splice NM_001162491.1 NP_001155963.1 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13A 163 GTP binding endometrium(1)|ovary(1) 2 TTTGTCACAGGAGCCATGTTC 0.498000 4 32 2.56e-06 3.10126e-06 0.150653 1 0 ANAPC1 64682 broad.mit.edu 37 2 112601107 112601107 + Nonsense_Mutation SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr2:112601107C>T ENST00000341068.3 - 17 2694 c.1922G>A c.(1921-1923)tGg>tAg p.W641* NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 641 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GACATTGTACCACTTGACAAG 0.383000 11 29 0 0 0.457914 0 0 LMAN2 10960 broad.mit.edu 37 5 176778294 176778294 + Splice_Site SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr5:176778294T>A ENST00000303127.7 - 2 401 c.e2-2 LMAN2_ENST00000506310.1_Splice_Site|LMAN2_ENST00000515209.1_Splice_Site NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AACCGACCCCTGTGGGAAGAG 0.612000 13 68 0 0 0.479597 0 0 PTPRB 5787 broad.mit.edu 37 12 70956766 70956766 + Silent SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:70956766C>A ENST00000334414.6 - 16 4070 c.4026G>T c.(4024-4026)ggG>ggT p.G1342G PTPRB_ENST00000451516.2_Silent_p.G1034G|PTPRB_ENST00000550358.1_Silent_p.G1254G|PTPRB_ENST00000261266.5_Silent_p.G1124G|PTPRB_ENST00000538708.1_Silent_p.G1034G|PTPRB_ENST00000551525.1_Silent_p.G1341G|PTPRB_ENST00000550857.1_Silent_p.G1034G NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1124 Fibronectin type-III 15. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CCTGGAGATTCCCATCTGGGT 0.507000 7 60 0.000157383 0.000181333 0.278610 1 0 PHLDB1 23187 broad.mit.edu 37 11 118498936 118498936 + Missense_Mutation SNP G G T rs140294013 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:118498936G>T ENST00000361417.2 + 7 1808 c.1397G>T c.(1396-1398)cGg>cTg p.R466L PHLDB1_ENST00000356063.5_Missense_Mutation_p.R466L NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 466 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TCTCTGTCCCGGCGAGCTCTC 0.677000 25 186 1.39806e-14 2.03005e-14 0.729181 1 0 OR13F1 138805 broad.mit.edu 37 9 107266683 107266683 + Missense_Mutation SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr9:107266683C>A ENST00000334726.2 + 1 229 c.140C>A c.(139-141)tCc>tAc p.S47Y NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TTTCTGATCTCCATCACCATT 0.478000 15 124 6.94344e-10 8.97567e-10 0.539581 1 0 RMDN3 55177 broad.mit.edu 37 15 41037425 41037425 + Missense_Mutation SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr15:41037425T>A ENST00000260385.6 - 4 1624 c.557A>T c.(556-558)gAg>gTg p.E186V RMDN3_ENST00000338376.3_Missense_Mutation_p.E186V|RMDN3_ENST00000558560.1_5'UTR regulator of microtubule dynamics 3 AGAGTCCCGCTCATTGTCAGA 0.498000 13 102 0 0 0.500413 0 0 MUC16 94025 broad.mit.edu 37 19 9084154 9084154 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:9084154G>T ENST00000397910.4 - 1 7864 c.7661C>A c.(7660-7662)tCc>tAc p.S2554Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2554 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTAGCACTGGATCCAGTGAC 0.512000 5 51 3.59834e-05 4.26172e-05 0.217242 1 0 SCN2B 6327 broad.mit.edu 37 11 118039448 118039448 + Missense_Mutation SNP A A G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr11:118039448A>G ENST00000278947.5 - 2 330 c.89T>C c.(88-90)aTg>aCg p.M30T NM_004588.4 NP_004579.1 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta subunit 30 synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) TGTGACCTCCATGCTCCGTCC 0.602000 31 237 0 0 0.760397 0 0 SHQ1 55164 broad.mit.edu 37 3 72897456 72897456 + Silent SNP C C A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr3:72897456C>A ENST00000325599.8 - 1 175 c.36G>T c.(34-36)ccG>ccT p.P12P NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 12 CS. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TCAGGAAGTCCGGATCCTGGC 0.657000 20 146 5.26018e-13 7.43439e-13 0.608945 1 0 LRP10 26020 broad.mit.edu 37 14 23345405 23345405 + Nonsense_Mutation SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr14:23345405G>A ENST00000359591.4 + 5 1939 c.1248G>A c.(1246-1248)tgG>tgA p.W416* LRP10_ENST00000546834.1_Nonsense_Mutation_p.W416* NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 416 LDL-receptor class A 4. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) ATGAGACGTGGGTGTGCGATG 0.582000 23 246 0 0 0.729181 0 0 C9orf96 169436 broad.mit.edu 37 9 136260873 136260873 + Silent SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr9:136260873G>A ENST00000371957.3 + 9 956 c.849G>A c.(847-849)tcG>tcA p.S283S C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 283 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TCGACCCCTCGGATCGAATAA 0.493000 5 80 0 0 0.184627 0 0 FNDC8 54752 broad.mit.edu 37 17 33454199 33454199 + Silent SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr17:33454199G>A ENST00000158009.5 + 2 463 c.348G>A c.(346-348)ggG>ggA p.G116G NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 116 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) TGCTGGAGGGGGAGCTGAACA 0.562000 7 274 0 0 0.278610 0 0 IGHV3-35 28432 broad.mit.edu 37 14 106845353 106845353 + RNA SNP G G A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr14:106845353G>A ENST00000390617.2 - 0 335 CCGTGTCCTCGGCCCTCAGGC 0.527000 15 189 0 0 0.608945 0 0 NLRP9 338321 broad.mit.edu 37 19 56249556 56249556 + Missense_Mutation SNP T T A TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:56249556T>A ENST00000332836.2 - 1 212 c.185A>T c.(184-186)cAt>cTt p.H62L NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 62 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TCCTGGGTAATGTTTGTCCAG 0.463000 152 428 0 0 0.870114 0 0 UTP18 51096 broad.mit.edu 37 17 49371270 49371270 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr17:49371270C>G ENST00000225298.7 + 12 1567 c.1510C>G c.(1510-1512)Ctt>Gtt p.L504V NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 504 rRNA processing nucleolus breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) GCAGGTTCATCTTCCTTCCTG 0.338000 3 37 0 0 0.115264 0 0 DNAJC2 27000 broad.mit.edu 37 7 102967069 102967069 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr7:102967069C>G ENST00000379263.3 - 5 743 c.493G>C c.(493-495)Gat>Cat p.D165H DNAJC2_ENST00000249270.7_Missense_Mutation_p.D165H|PMPCB_ENST00000420236.2_Intron NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 165 ZRF1-UBD. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 ACTGAGTTATCAAAAGTAGGA 0.348000 5 42 0 0 0.184627 0 0 LILRP2 79166 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 3 99 0 0 0.411799 0 0 LRP10 26020 broad.mit.edu 37 14 23345406 23345406 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr14:23345406G>T ENST00000359591.4 + 5 1940 c.1249G>T c.(1249-1251)Gtg>Ttg p.V417L LRP10_ENST00000546834.1_Missense_Mutation_p.V417L NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 417 LDL-receptor class A 4. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGAGACGTGGGTGTGCGATGG 0.582000 23 244 1.30897e-18 2.02556e-18 0.740014 1 0 ZFHX4 79776 broad.mit.edu 37 8 77767654 77767654 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:77767654G>C ENST00000521891.2 + 10 8945 c.8497G>C c.(8497-8499)Gtg>Ctg p.V2833L ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2807L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2788L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2788L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2788 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTCCGGAGATGTGAAACCGGC 0.483000 HNSCC(33;0.089) 7 56 0 0 0.248553 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685650 125685650 + Nonsense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:125685650G>T ENST00000371126.1 - 1 1184 c.942C>A c.(940-942)taC>taA p.Y314* NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 314 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 TATCATCACAGTAGGTCAGGC 0.587000 33 119 4.11147e-13 5.84988e-13 0.788014 1 0 RYR2 6262 broad.mit.edu 37 1 237754118 237754118 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:237754118G>T ENST00000366574.2 + 31 4303 c.3986G>T c.(3985-3987)gGg>gTg p.G1329V RYR2_ENST00000360064.6_Missense_Mutation_p.G1327V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1313V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1329 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G1327V(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCCTTTTTGGGCCCAAGAAT 0.517000 21 82 4.7796e-09 6.06752e-09 0.681144 1 0 TCHP 84260 broad.mit.edu 37 12 110341741 110341741 + Splice_Site SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:110341741G>T ENST00000312777.5 + 3 402 c.e3-1 TCHP_ENST00000405876.4_Splice_Site NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 CTCTCACCCAGCATGCATGCC 0.572000 4 14 0.184627 0.187277 0.184627 1 0 MMEL1 79258 broad.mit.edu 37 1 2560819 2560821 + In_Frame_Del DEL CAG CAG - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:2560819_2560821delCAG ENST00000288709.6 - 2 316_318 c.76_78delCTG c.(76-78)del p.L26del MMEL1_ENST00000502556.1_In_Frame_Del_p.L35del|MMEL1_ENST00000378412.3_In_Frame_Del_p.L35del NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 35 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CAGCGGTCACcagcagcagcagc 0.739 3 5 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 2 4 --- --- --- --- ARMC9 80210 broad.mit.edu 37 2 232146846 232146846 + Splice_Site DEL G G - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr2:232146846delG ENST00000349938.4 + 17 1820 c.1626_splice c.e17+1 p.M542_splice ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 542 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CAAGAGCAATGGTAAGAAAGC 0.458 25 62 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139809072 139809072 + Frame_Shift_Del DEL T T - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr8:139809072delT ENST00000303045.6 - 12 2032 c.1586delA c.(1585-1587)agfs p.K529fs COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 529 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTTCACCCTTTTCCCCTTG 0.463 HNSCC(7;0.00092) 7 694 --- --- --- --- PRB3 5544 broad.mit.edu 37 12 11420620 11420620 + RNA DEL G G - rs71057717 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:11420620delG ENST00000381842.3 - 0 600 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding p.P188Q(1)|p.P167Q(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TCCTCCTTGTGGGGGTGGTCC 0.647 57 233 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174142 13174147 + RNA DEL AACAAC AACAAC - rs113537246 TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr12:13174142_13174147delAACAAC ENST00000543321.1 + 0 1025 ctgtctcaaaaacaacaacaacaaca 0.553 6 6 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74188044 74188044 + Frame_Shift_Del DEL C C - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr14:74188044delC ENST00000286523.5 - 11 3675 c.2893delG c.(2893-2895)cafs p.A967fs ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.A967fs NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 ACTGCCGCTGCCCGCCTGCTG 0.647 23 105 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45754119 45754121 + RNA DEL CAC CAC - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr15:45754119_45754121delCAC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA ccaccaccatcaccaccaccacc 0.571 4 4 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31422756 31422756 + Frame_Shift_Del DEL C C - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:31422756delC ENST00000389202.2 + 14 1674 c.1625delC c.(1624-1626)gcfs p.A542fs NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 542 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 GCCATTGGGGCCCCGGGAGAG 0.647 7 598 --- --- --- --- AFG3L1P 172 broad.mit.edu 37 16 90053797 90053797 + RNA DEL G G - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr16:90053797delG ENST00000437774.1 + 0 731 NR_003226.1 aggtggaggaggtggaggagg 0.647 2 4 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7843518 7843519 + Frame_Shift_Del DEL GA GA - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr17:7843518_7843519delGA ENST00000380262.3 + 9 2194_2195 c.1269_1270delGA c.(1267-1272)cggafs p.RR423fs CNTROB_ENST00000380255.3_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000563694.1_Frame_Shift_Del_p.RR423fs NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 423 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) ATACAGCTCGGAGAGAGAGAGA 0.579 9 204 --- --- --- --- CCDC178 374864 broad.mit.edu 37 18 30913143 30913143 + Frame_Shift_Del DEL T T - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr18:30913143delT ENST00000383096.3 - 10 1056 c.874delA c.(874-876)tgfs p.M292fs CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000579947.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000406524.2_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000402325.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000300227.8_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000403303.1_Frame_Shift_Del_p.M292fs coiled-coil domain containing 178 p.M292fs*3(2) TTTACCTCCATTTTTTTTTTA 0.318 11 42 --- --- --- --- SYNJ1 8867 broad.mit.edu 37 21 34011346 34011351 + In_Frame_Del DEL GCTCTT GCTCTT - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chr21:34011346_34011351delGCTCTT ENST00000382499.2 - 31 3898_3903 c.3899_3904delAAGAGC c.(3898-3906)cct>c p.QEP1300del SYNJ1_ENST00000322229.7_In_Frame_Del_p.QEP1261del|SYNJ1_ENST00000433931.2_In_Frame_Del_p.QEP1300del|SYNJ1_ENST00000382491.3_In_Frame_Del_p.QEP1214del|SYNJ1_ENST00000357345.3_In_Frame_Del_p.QEP1245del NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1261 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GGGACAAGAGGCTCTTGCAACCTTTG 0.544 18 249 --- --- --- --- LRCH2 57631 broad.mit.edu 37 X 114391224 114391224 + Frame_Shift_Del DEL A A - TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx babd96af-bc23-49ee-b8ef-541bc076c7c4 fbc4dd00-fd9b-4988-aa44-ce1598a2150b g.chrX:114391224delA ENST00000317135.8 - 12 1500 c.1470delT c.(1468-1470)ctfs p.L490fs LRCH2_ENST00000538422.1_Frame_Shift_Del_p.L490fs NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 490 breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 TTGAATGATTAAGAATCCTAG 0.259 2 4 --- --- --- ---