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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CYP4F11 57834 broad.mit.edu 37 19 16040288 16040288 + Missense_Mutation SNP G A A rs138578304 TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr19:16040288G>A uc002nbu.2 - 2 358 c.322C>T c.(322-324)Cgg>Tgg p.R108W CYP4F11_uc010eab.1_Missense_Mutation_p.R108W|CYP4F11_uc002nbt.2_Missense_Mutation_p.R108W NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 108 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GTGATAGGCCGGATAATGTCA 0.557000 120 21 0 0 0.00047179 0 0 IL31RA 133396 broad.mit.edu 37 5 55206397 55206397 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:55206397G>A uc003jql.3 + 11 1731 c.1539G>A c.(1537-1539)ctG>ctA p.L513L IL31RA_uc003jqm.3_Silent_p.L494L|IL31RA_uc003jqn.3_Silent_p.L513L|IL31RA_uc010iwa.1_Silent_p.L476L|IL31RA_uc021xyq.1_Silent_p.L494L|IL31RA_uc003jqo.3_Silent_p.L371L NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 481 JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) AGTACGGCCTGGAGTCCCTGA 0.468000 69 13 0 0 0.000308642 0 0 MAN2B1 4125 broad.mit.edu 37 19 12767424 12767424 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr19:12767424G>A uc002mub.2 - 12 1681 c.1605C>T c.(1603-1605)ttC>ttT p.F535F MAN2B1_uc010dyv.1_Silent_p.F534F NM_000528 NP_000519 O00754 MA2B1_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA. 535 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CCTTCACAACGAAAACGCCTT 0.587000 62 13 0 0 0.00010058 0 0 KCND2 3751 broad.mit.edu 37 7 119914938 119914938 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr7:119914938C>T uc003vjj.1 + 0 1217 c.252C>T c.(250-252)ttC>ttT p.F84F NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 84 Interaction with KCNIP1 (By similarity). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) AGCAGTATTTCTTTGACCGTG 0.527000 149 21 0 0 0.000295444 0 0 FAM86C1 55199 broad.mit.edu 37 8 8092061 8092061 + RNA SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr8:8092061C>T uc011kwt.2 + 3 c.429C>T FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript Q9NVL1 FA86C_HUMAN Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA. lung(1) 1 TGGCGGAGACCCTGATGGCCA 0.592000 35 8 0 0 6.40141e-05 0 0 ATP6V1F 9296 broad.mit.edu 37 7 128505545 128505545 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr7:128505545C>T uc022all.1 + 2 459 c.357C>T c.(355-357)atC>atT p.I119I KCP_uc003vob.1_Intron|ATP6V1F_uc003voc.2_Silent_p.I91I|LOC100130705_uc022alm.1_5'Flank NM_001198909 NP_001185838 Q16864 VATF_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F (ATP6V1F), transcript variant 2, mRNA. 91 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism lung(1)|ovary(1)|prostate(1) 3 TCCTGGAGATCCCCTCCAAGG 0.612000 40 5 0 0 0.000602214 0 0 TRPM2 7226 broad.mit.edu 37 21 45825902 45825902 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr21:45825902C>T uc010gpt.1 + 17 2872 c.2772C>T c.(2770-2772)atC>atT p.I924I TRPM2_uc002zet.1_Silent_p.I924I|TRPM2_uc002zeu.1_Silent_p.I924I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I924I|TRPM2_uc002zex.1_Silent_p.I710I|TRPM2_uc002zey.1_Silent_p.I437I NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 924 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGCCCAAGATCATCATTGTGA 0.642000 109 25 0 0 0.000279167 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 28 73 0 0 0.000147903 0 0 SVIL 6840 broad.mit.edu 37 10 29769471 29769471 + Missense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr10:29769471G>A uc001iut.1 - 28 6125 c.5372C>T c.(5371-5373)aCg>aTg p.T1791M LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.T705M|SVIL_uc001iuu.1_Missense_Mutation_p.T1365M|SVIL_uc009xlc.2_Missense_Mutation_p.T583M NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 1791 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.T1791T(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CTAACCTGCCGTGCTCACCAT 0.562000 48 15 0 0 0.000175454 0 0 CRX 1406 broad.mit.edu 37 19 48343031 48343031 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr19:48343031C>T uc002phq.4 + 3 911 c.707C>T c.(706-708)cCc>cTc p.P236L NM_000554 NP_000545 O43186 CRX_HUMAN Homo sapiens cone-rod homeobox (CRX), mRNA. 236 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) GCTCTTAGCCCCCTCTCTGGC 0.647000 123 22 0 0 0.00047179 0 0 ZNF423 23090 broad.mit.edu 37 16 49672451 49672451 + Silent SNP G T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr16:49672451G>T uc002efs.3 - 4 910 c.612C>A c.(610-612)tcC>tcA p.S204S ZNF423_uc010vgn.2_Silent_p.S87S NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 204 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGTCGCTGCGGGAGAAGGCTG 0.612000 35 12 0.000151284 0.00356342 0.000151284 1 0 RAB9BP1 9366 broad.mit.edu 37 5 104435182 104435182 + RNA SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:104435182G>A uc003kok.3 + 0 c.8G>A Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA. TTAACGGCAGGAAAATCATCA 0.358000 9 10 0 0 0.000442599 0 0 P2RX7 5027 broad.mit.edu 37 12 121593937 121593937 + Missense_Mutation SNP G A A rs146441492 byFrequency TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr12:121593937G>A uc001tzm.3 + 2 502 c.350G>A c.(349-351)cGg>cAg p.R117Q P2RX7_uc001tzn.3_Missense_Mutation_p.R27Q|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_5'UTR NM_002562 NP_002553 A8K2Z0 A8K2Z0_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA. 117 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAAGAGCAGCGGTTGTGTCCC 0.522000 301 54 0 0 0.000147903 0 0 MYOM1 8736 broad.mit.edu 37 18 3116374 3116374 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr18:3116374C>T uc002klp.3 - 20 3592 c.3258G>A c.(3256-3258)caG>caA p.Q1086Q MYOM1_uc002klq.3_Silent_p.Q990Q NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 1086 Fibronectin type-III 5. striated muscle myosin thick filament structural constituent of muscle p.D1085G(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCCCTCGCCACTGGTCTTCTT 0.527000 23 8 0 0 0.000442599 0 0 GRM8 2918 broad.mit.edu 37 7 126173763 126173763 + Missense_Mutation SNP A G G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr7:126173763A>G uc003vlr.2 - 7 1984 c.1673T>C c.(1672-1674)cTg>cCg p.L558P GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.L558P|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 558 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TCTCTGATCCAGAGGGCAAAG 0.532000 HNSCC(24;0.065) 107 18 0 0 0.000175454 0 0 EXOC6 54536 broad.mit.edu 37 10 94708065 94708066 + Missense_Mutation DNP CC AA AA TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr10:94708065_94708066CC>AA uc010qnr.2 + 14 1536_1537 c.1393_1394CC>AA c.(1393-1395)cct>AAt p.P465N EXOC6_uc001kie.3_Missense_Mutation_p.P444N|EXOC6_uc001kig.3_Missense_Mutation_p.P449N|EXOC6_uc009xub.3_Missense_Mutation_p.P449N|EXOC6_uc009xuc.3_Missense_Mutation_p.P346N|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Missense_Mutation_p.P23N NM_001013848 NP_001013870 Q8TAG9 EXOC6_HUMAN Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA. 449 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) CAGCCCCATCCCTGTTGTCAAT 0.312000 226 10 0 0 6.4e-05 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307194 120307194 + Missense_Mutation SNP C T T rs28937320 TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr1:120307194C>T uc001eid.3 - 1 248 c.160G>A c.(160-162)Gtg>Atg p.V54M HMGCS2_uc010oxj.2_Missense_Mutation_p.V54M|HMGCS2_uc021osx.1_5'UTR NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 54 V -> M (in HMGCS deficiency; dbSNP:rs28937320). acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) AGGATGCCCACGTCCTTTGGC 0.502000 263 57 0 0 0.000147903 0 0 HERC2 8924 broad.mit.edu 37 15 28386694 28386694 + Missense_Mutation SNP C G G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr15:28386694C>G uc001zbj.3 - 77 12005 c.11899G>C c.(11899-11901)Ggc>Cgc p.G3967R NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 3967 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCTTCAATGCCCCCGAGCTGG 0.527000 92 22 0 0 0.000295444 0 0 PTPN18 26469 broad.mit.edu 37 2 131116970 131116970 + Splice_Site SNP G C C TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr2:131116970G>C uc002trc.3 + 4 381 c.280_splice c.e4-1 p.G94_splice PTPN18_uc002trb.3_Intron NM_014369 NP_055184 Q99952 PTN18_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA. 94 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) CCTTCACCAGGGCGTGGATGG 0.607000 45 7 0 0 8.12818e-05 0 0 SPTA1 6708 broad.mit.edu 37 1 158614069 158614069 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr1:158614069C>T uc001fst.1 - 29 4511 c.4312G>A c.(4312-4314)Gat>Aat p.D1438N NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1438 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.D1437D(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTGTCCAAATCGTCCCGTTTC 0.403000 94 11 0 0 0.000151284 0 0 OR1E2 8388 broad.mit.edu 37 17 3337014 3337014 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr17:3337014C>T uc010vre.2 - 0 122 c.122G>A c.(121-123)gGg>gAg p.G41E NM_003554 NP_003545 P47887 OR1E2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA. 41 sensory perception of smell integral to plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3) 9 GAGGAGGTTCCCCAGGAGGGT 0.527000 49 26 0 0 0.000191422 0 0 CDKL3 51265 broad.mit.edu 37 5 133657520 133657520 + Missense_Mutation SNP G C C TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:133657520G>C uc003kzf.4 - 4 733 c.614C>G c.(613-615)tCt>tGt p.S205C CDKL3_uc011cxm.1_Missense_Mutation_p.S12C|CDKL3_uc011cxn.1_Non-coding_Transcript|CDKL3_uc010jdw.2_5'UTR|CDKL3_uc011cxo.1_5'UTR|CDKL3_uc011cxp.1_5'UTR|CDKL3_uc011cxq.2_Missense_Mutation_p.S12C|CDKL3_uc003kzg.4_Missense_Mutation_p.S205C|CDKL3_uc011cxr.1_Missense_Mutation_p.S205C NM_001113575 NP_001107047 Q8IVW4 CDKL3_HUMAN Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA. 205 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATCCAAATCAGAACTACTAGG 0.358000 30 4 0 0 3.59834e-05 0 0 PRSS27 83886 broad.mit.edu 37 16 2763567 2763567 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr16:2763567C>T uc002crf.3 - 4 1032 c.641G>A c.(640-642)tGc>tAc p.C214Y PRSS27_uc002cre.3_Missense_Mutation_p.C178Y|PRSS27_uc002crg.3_Missense_Mutation_p.C112Y|PRSS27_uc010bst.1_Missense_Mutation_p.C112Y NM_031948 NP_114154 Q9BQR3 PRS27_HUMAN Homo sapiens protease, serine 27 (PRSS27), mRNA. 214 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 GAAGCCGGCGCACAGCATGTC 0.592000 89 16 0 0 0.000175454 0 0 SLC24A3 57419 broad.mit.edu 37 20 19677546 19677546 + Missense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr20:19677546G>A uc002wrl.3 + 13 1794 c.1597G>A c.(1597-1599)Gcc>Acc p.A533T NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 533 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCTCATTGTGGCCAGACAAGG 0.607000 49 6 0 0 8.12818e-05 0 0 ODZ1 10178 broad.mit.edu 37 X 123519727 123519727 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chrX:123519727C>T uc010nqy.3 - 28 5940 c.5876G>A c.(5875-5877)cGa>cAa p.R1959Q ODZ1_uc011muj.2_Missense_Mutation_p.R1958Q|ODZ1_uc004euj.3_Missense_Mutation_p.R1952Q NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1952 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TCGGCCATCTCGACTATAGTC 0.498000 27 44 0 0 0.000589545 0 0 CLVS1 157807 broad.mit.edu 37 8 62212623 62212623 + Missense_Mutation SNP T G G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr8:62212623T>G uc003xuh.3 + 1 561 c.237T>G c.(235-237)ttT>ttG p.F79L CLVS1_uc003xug.2_Missense_Mutation_p.F79L|CLVS1_uc003xui.3_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 79 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TCCTGAGATTTCTCCGAGCCA 0.463000 51 4 0 0 0.00024832 0 0 APC 324 broad.mit.edu 37 5 112175907 112175907 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:112175907C>T uc003kpz.4 + 16 4809 c.4616C>T c.(4615-4617)tCa>tTa p.S1539L APC_uc011cvt.2_Missense_Mutation_p.S1521L|APC_uc003kpy.4_Missense_Mutation_p.S1539L|APC_uc010jbz.3_Missense_Mutation_p.S1256L|APC_uc010jca.3_Missense_Mutation_p.S839L NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1539 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.S1539*(2)|p.E1538fs*5(2)|p.?(1)|p.E1540fs*4(1)|p.S1539fs*5(1)|p.K1192fs*3(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAAACAGAATCAGAGCAGCCT 0.368000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 72 12 0 0 6.40141e-05 0 0 RDH10 157506 broad.mit.edu 37 8 74235028 74235028 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr8:74235028C>T uc003xzi.3 + 4 1573 c.885C>T c.(883-885)atC>atT p.I295I RDH10_uc003xzj.3_Silent_p.I130I|AK128216_uc003xzk.1_Intron NM_172037 NP_742034 Q8IZV5 RDH10_HUMAN Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA. 295 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) TCATGTACATCGTGACCTTCA 0.522000 41 29 0 0 0.000227799 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43555412 43555412 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr17:43555412C>T uc002ija.3 - 2 320 c.150G>A c.(148-150)atG>atA p.M50I PLEKHM1_uc010wjm.2_Intron|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Intron|PLEKHM1_uc021tym.1_5'Flank NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA. 50 RUN. intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) GGGCGCTGCACATGGTGTTGG 0.567000 32 12 0 0 0.00010058 0 0 HEATR6 63897 broad.mit.edu 37 17 58144970 58144970 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr17:58144970C>T uc002iyk.1 - 7 1080 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Missense_Mutation_p.E187K NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. 355 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GTGTTCCCTTCATGCAGGTTC 0.507000 36 6 0 0 3.59834e-05 0 0 DDX12P 440081 broad.mit.edu 37 12 9580293 9580293 + RNA SNP A G G rs139954536 by1000genomes TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr12:9580293A>G uc021qut.1 - 4 c.329T>C DDX12P_uc001qvx.4_Non-coding_Transcript Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA. p.M473T(1) CTTCAGCTCCATCCCTGAGAA 0.502000 38 5 0 0 0.000602214 0 0 RNASE3 6037 broad.mit.edu 37 14 21360234 21360234 + Missense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr14:21360234G>A uc021roq.1 + 0 389 c.389G>A c.(388-390)gGa>gAa p.G130E RNASE3_uc001vyj.3_Missense_Mutation_p.G130E NM_002935 NP_002926 P12724 ECP_HUMAN Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA. 130 G -> R (in dbSNP:rs12147890). RNA catabolic process|defense response to bacterium extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) GACAGACCAGGAAGGAGGTTC 0.478000 27 33 0 0 0.000491102 0 0 ZNF99 7652 broad.mit.edu 37 19 22940294 22940294 + Missense_Mutation SNP T A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr19:22940294T>A uc021urt.1 - 3 2572 c.2417A>T c.(2416-2418)aAa>aTa p.K806I NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATCTCATGTTTTCTAAGGGT 0.333000 37 11 0 0 3.86212e-05 0 0 STAU2 27067 broad.mit.edu 37 8 74516060 74516060 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr8:74516060G>A uc003xzm.3 - 9 1271 c.930C>T c.(928-930)agC>agT p.S310S STAU2_uc011lfh.2_Silent_p.S206S|STAU2_uc003xzn.3_Silent_p.S278S|STAU2_uc011lfg.2_Silent_p.S138S|STAU2_uc003xzo.3_Silent_p.S310S|STAU2_uc003xzq.3_Silent_p.S90S|STAU2_uc003xzp.3_Silent_p.S278S|STAU2_uc011lfi.2_Silent_p.S272S|STAU2_uc010lzk.3_Silent_p.S278S|STAU2_uc010lzl.1_Silent_p.S138S NM_001164380 NP_001157855 Q9NUL3 STAU2_HUMAN Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA. 310 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GCGCCAGGCGGCTAATAGGGT 0.408000 47 14 0 0 0.000219431 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195349 18195349 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr11:18195349G>A uc001mnv.1 + 0 966 c.546G>A c.(544-546)gcG>gcA p.A182A NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA. 182 A -> V (in dbSNP:rs11024532). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TCCCAGTCGCGTGGCTGATTT 0.512000 101 21 0 0 0.000229342 0 0 TAF1L 138474 broad.mit.edu 37 9 32631651 32631651 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr9:32631651C>T uc003zrg.1 - 0 4017 c.3927G>A c.(3925-3927)tcG>tcA p.S1309S AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1309 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAACAGGTTTCGAAGGTGGCA 0.428000 129 75 0 0 0.000147903 0 0 ZNF676 163223 broad.mit.edu 37 19 22363738 22363738 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr19:22363738C>T uc002nqs.1 - 2 1099 c.781G>A c.(781-783)Gga>Aga p.G261R NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CTACTAAATCCTTTGCCACAT 0.393000 37 15 0 0 0.000566183 0 0 TGFB3 7043 broad.mit.edu 37 14 76437468 76437468 + Splice_Site SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr14:76437468C>T uc001xsc.2 - 3 1502 c.646_splice c.e3+1 p.E216_splice TGFB3_uc001xsd.3_Splice_Site_p.E214_splice NM_003239 NP_003230 P10600 TGFB3_HUMAN Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA. 216 cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway extracellular matrix|platelet alpha granule lumen growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.0169) GGTCCACCTACCTCTTCTCAA 0.517000 77 14 0 0 0.000308642 0 0 SCN2A 6326 broad.mit.edu 37 2 166231203 166231203 + Silent SNP A G G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr2:166231203A>G uc002udc.3 + 21 4271 c.3981A>G c.(3979-3981)gtA>gtG p.V1327V SCN2A_uc002udd.3_Silent_p.V1327V|SCN2A_uc002ude.3_Silent_p.V1327V NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1327 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGGTTGTTGTAAATGCTCTTT 0.328000 129 18 0 0 0.000175454 0 0 OR2T35 403244 broad.mit.edu 37 1 248801912 248801912 + Silent SNP C G G rs146851066 by1000genomes TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr1:248801912C>G uc001ies.1 - 0 648 c.648G>C c.(646-648)gtG>gtC p.V216V NM_001001827 NP_001001827 Q8NGX2 O2T35_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 35 (OR2T35), mRNA. 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V216V(2) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCGTGTAGGACACAGAGATGA 0.542000 9 4 0 0 0.00024832 0 0 WDR41 55255 broad.mit.edu 37 5 76734149 76734149 + Missense_Mutation SNP T C C TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:76734149T>C uc003kff.1 - 9 1207 c.920A>G c.(919-921)tAt>tGt p.Y307C WDR41_uc011csy.1_Missense_Mutation_p.Y249C|WDR41_uc011csz.1_Missense_Mutation_p.Y252C|WDR41_uc011cta.1_Non-coding_Transcript NM_018268 NP_060738 Q9HAD4 WDR41_HUMAN Homo sapiens WD repeat domain 41 (WDR41), mRNA. 307 NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) TTGAAGGCTATACACGTATAA 0.448000 74 23 0 0 0.000229342 0 0 SETD1A 9739 broad.mit.edu 37 16 30975994 30975994 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr16:30975994C>T uc002ead.1 + 6 1617 c.931C>T c.(931-933)Cgc>Tgc p.R311C NM_014712 NP_055527 O15047 SET1A_HUMAN Homo sapiens SET domain containing 1A (SETD1A), mRNA. 311 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|chromosome|nuclear speck RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding p.S310F(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 TGCCTTTTCCCGCCGCCACTT 0.602000 93 16 0 0 0.000566183 0 0 C15orf54 400360 broad.mit.edu 37 15 39544862 39544862 + Missense_Mutation SNP A G G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr15:39544862A>G uc001zkg.2 + 1 894 c.526A>G c.(526-528)Atg>Gtg p.M176V C15orf54_uc021sjb.1_Missense_Mutation_p.M176V NM_207445 NP_997328 Q8N8G6 CO054_HUMAN Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA. 176 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) GTTCAATGTCATGGCTGTAAG 0.468000 57 7 0 0 0.000157383 0 0 C7orf58 79974 broad.mit.edu 37 7 120906769 120906769 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr7:120906769C>T uc003vjq.4 + 19 2987 c.2540C>T c.(2539-2541)cCc>cTc p.P847L NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 847 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) AGATCACGTCCCCTAGAGAAT 0.398000 89 9 0 0 3.86212e-05 0 0 SGSM1 129049 broad.mit.edu 37 22 25255689 25255689 + Missense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr22:25255689G>A uc003abg.2 + 8 965 c.808G>A c.(808-810)Gac>Aac p.D270N SGSM1_uc010guu.1_Missense_Mutation_p.D270N|SGSM1_uc003abh.2_Missense_Mutation_p.D270N|SGSM1_uc003abj.2_Missense_Mutation_p.D270N|SGSM1_uc003abi.1_Missense_Mutation_p.D245N|SGSM1_uc003abf.2_Missense_Mutation_p.D270N NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 270 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GCAGAGGGACGACATGGAGGC 0.562000 25 9 0 0 0.000274275 0 0 TNC 3371 broad.mit.edu 37 9 117846627 117846627 + Silent SNP C A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr9:117846627C>A uc004bjj.4 - 3 2404 c.1992G>T c.(1990-1992)ctG>ctT p.L664L TNC_uc010mvf.3_Silent_p.L664L|TNC_uc022bmj.1_Silent_p.L664L NM_002160 NP_002151 P24821 TENA_HUMAN Homo sapiens tenascin C (TNC), mRNA. 664 Fibronectin type-III 1. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACTGCATTTCCAGACCACCCT 0.567000 33 6 2.7689e-08 6.9339e-07 8.12818e-05 1 0 SLC5A1 6523 broad.mit.edu 37 22 32464543 32464543 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr22:32464543C>T uc003amc.3 + 4 683 c.433C>T c.(433-435)Ctt>Ttt p.L145F SLC5A1_uc011alz.2_Missense_Mutation_p.L18F NM_000343 NP_000334 P13866 SC5A1_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA. 145 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 CCAGGTCTACCTTTCCCTTCT 0.582000 47 18 0 0 0.000295444 0 0 LOC441601 441601 broad.mit.edu 37 11 50252746 50252746 + RNA SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr11:50252746G>A uc001nhd.3 - 2 c.450C>T Homo sapiens septin 7 pseudogene (LOC441601), non-coding RNA. GTTCACGCATGATTCTGCATT 0.388000 41 7 0 0 8.12818e-05 0 0 OR6C4 341418 broad.mit.edu 37 12 55945074 55945074 + Missense_Mutation SNP C A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr12:55945074C>A uc010spp.2 + 0 64 c.64C>A c.(64-66)Caa>Aaa p.Q22K NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 ACCTGAACTCCAAGTGATGAT 0.418000 87 18 3.32936e-07 8.25057e-06 7.07596e-05 1 0 X97876 0 broad.mit.edu 37 9 66500871 66500871 + RNA SNP T C C rs11262348 TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr9:66500871T>C uc004aed.1 + 2 c.964T>C Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA. TACACGGAACTGCTGTTGGTC 0.597000 24 4 0 0 0.000602214 0 0 COL5A2 1290 broad.mit.edu 37 2 189904130 189904130 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr2:189904130C>T uc002uqk.3 - 50 4068 c.3793G>A c.(3793-3795)Gac>Aac p.D1265N COL5A2_uc010frx.3_Missense_Mutation_p.D841N NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 1265 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACCCCTGGGTCCGTTTTGTTT 0.517000 34 20 0 0 9.7654e-05 0 0 NLRP7 199713 broad.mit.edu 37 19 55445871 55445871 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr19:55445871G>A uc002qih.4 - 6 2533 c.2457C>T c.(2455-2457)ttC>ttT p.F819F NLRP7_uc010esk.3_Silent_p.F819F|NLRP7_uc002qig.4_Silent_p.F791F|NLRP7_uc002qii.4_Silent_p.F819F|NLRP7_uc010esl.3_Silent_p.F847F NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 819 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) ACATCTGCAGGAAGTGTTTTG 0.532000 80 12 0 0 0.000151284 0 0 DDX12P 440081 broad.mit.edu 37 12 9580280 9580280 + RNA SNP A G G rs146037854 by1000genomes TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr12:9580280A>G uc021qut.1 - 4 c.342T>C DDX12P_uc001qvx.4_Non-coding_Transcript Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA. AGTCGTTGATAGTCTTCAGCT 0.493000 37 6 0 0 3.59834e-05 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67859130 67859130 + Missense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr16:67859130G>A uc010vka.2 + 6 845 c.769G>A c.(769-771)Gag>Aag p.E257K TSNAXIP1_uc010cep.2_Missense_Mutation_p.E67K|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.E80K|TSNAXIP1_uc002euf.4_5'UTR|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.E188K|TSNAXIP1_uc002eug.4_5'UTR|TSNAXIP1_uc002euh.4_5'UTR|TSNAXIP1_uc002eui.4_5'UTR|TSNAXIP1_uc002euj.3_Missense_Mutation_p.E203K|TSNAXIP1_uc002euk.3_5'UTR NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA. 203 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) AGACCTGAATGAGCTGCGGTA 0.532000 73 8 0 0 0.000442599 0 0 MGA 23269 broad.mit.edu 37 15 42041031 42041031 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr15:42041031C>T uc010ucy.2 + 15 5590 c.5409C>T c.(5407-5409)caC>caT p.H1803H MGA_uc010ucz.2_Silent_p.H1594H|MGA_uc010uda.1_Silent_p.H419H|MGA_uc001zoi.3_Silent_p.H17H NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 1764 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TATTCAGGCACCCTAATGGGC 0.483000 60 14 0 0 0.000151284 0 0 PLCH1 23007 broad.mit.edu 37 3 155199996 155199996 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr3:155199996G>A uc021xge.1 - 22 4120 c.3843C>T c.(3841-3843)ccC>ccT p.P1281P PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.P1243P NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1281 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTTTAGAGATGGGAGTGCAGG 0.488000 176 32 0 0 0.000132358 0 0 FAF2 23197 broad.mit.edu 37 5 175927084 175927084 + Missense_Mutation SNP C G G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:175927084C>G uc003mej.4 + 9 1145 c.1092C>G c.(1090-1092)atC>atG p.I364M NM_014613 NP_055428 Q96CS3 FAF2_HUMAN Homo sapiens Fas associated factor family member 2 (FAF2), mRNA. 364 UBX. response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 GTGTCAAGATCATCTTCAAAT 0.433000 115 14 0 0 0.000566183 0 0 HLA-C 3107 broad.mit.edu 37 6 31323218 31323218 + Silent SNP G C C TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr6:31323218G>C uc003nth.2 - 3 825 c.771C>G c.(769-771)acC>acG p.T257T HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Silent_p.T136T|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript NM_005514 NP_005505 Q9TNN7 1C05_HUMAN Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA. 257 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CTGCTGGTCTGGTCTCCACAA 0.587000 60 14 0 0 0.000219431 0 0 NFX1 4799 broad.mit.edu 37 9 33328583 33328583 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr9:33328583C>T uc003zsr.3 + 9 2064 c.1911C>T c.(1909-1911)ttC>ttT p.F637F NFX1_uc011lnw.2_Silent_p.F637F|NFX1_uc003zso.3_Silent_p.F637F|NFX1_uc003zsp.2_Silent_p.F637F|NFX1_uc010mjr.2_Silent_p.F637F|NFX1_uc003zsq.3_Silent_p.F637F NM_002504 NP_002495 Q12986 NFX1_HUMAN Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA. 637 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TTAAAGATTTCATTCATACCT 0.418000 77 15 0 0 0.000308642 0 0 NSUN4 387338 broad.mit.edu 37 1 46818685 46818685 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr1:46818685G>A uc001cpr.1 + 3 847 c.738G>A c.(736-738)ggG>ggA p.G246G NSUN4_uc010omc.1_Silent_p.G197G|NSUN4_uc009vyf.1_Silent_p.G95G|NSUN4_uc009vyg.1_Silent_p.G197G|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript NM_199044 NP_950245 Q96CB9 NSUN4_HUMAN Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA. 246 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) AACTGGAGGGGGACACCTATG 0.517000 48 5 0 0 8.12818e-05 0 0 SIRT4 23409 broad.mit.edu 37 12 120750786 120750786 + Missense_Mutation SNP C A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr12:120750786C>A uc001tyc.3 + 3 951 c.892C>A c.(892-894)Ctg>Atg p.L298M NM_012240 NP_036372 Q9Y6E7 SIRT4_HUMAN Homo sapiens sirtuin 4 (SIRT4), mRNA. 298 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTTGGCGTGTCTGAAACTGAA 0.493000 88 28 7.01153e-11 1.7936e-09 0.000184323 1 0 RTKN 6242 broad.mit.edu 37 2 74654713 74654713 + Nonsense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr2:74654713G>A uc002sle.3 - 9 1210 c.1093C>T c.(1093-1095)Cga>Tga p.R365* RTKN_uc002slc.3_Nonsense_Mutation_p.R352*|RTKN_uc002sld.3_Nonsense_Mutation_p.R315* NM_001015055 NP_001015056 Q9BST9 RTKN_HUMAN Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA. 365 PH. RV -> PI (in Ref. 3; AAG01181). Rho protein signal transduction|apoptosis|regulation of anti-apoptosis intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 GCCCGGACTCGAGTCTCCTGC 0.547000 141 25 0 0 0.000147802 0 0 JMY 133746 broad.mit.edu 37 5 78610271 78610271 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:78610271C>T uc003kfx.4 + 8 2805 c.2256C>T c.(2254-2256)ccC>ccT p.P752P JMY_uc003kfw.1_Silent_p.P398P NM_152405 NP_689618 Q8N9B5 JMY_HUMAN Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA. 752 'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) CAACAGAACCCCAGAGCCTTG 0.458000 126 26 0 0 0.00047179 0 0 HEPACAM 220296 broad.mit.edu 37 11 124792340 124792340 + Nonsense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr11:124792340G>A uc001qbk.3 - 5 1298 c.892C>T c.(892-894)Cga>Tga p.R298* HEPACAM_uc009zbj.3_Nonsense_Mutation_p.R16* NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA. 298 cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane p.R298*(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TCACCACTTCGAGGGAGGGTG 0.607000 91 25 0 0 9.22233e-05 0 0 SLIT3 6586 broad.mit.edu 37 5 168271604 168271604 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:168271604C>T uc010jjg.3 - 5 962 c.542G>A c.(541-543)cGc>cAc p.R181H SLIT3_uc003mab.3_Missense_Mutation_p.R181H|SLIT3_uc010jji.2_Missense_Mutation_p.R181H|SLIT3_uc003mac.1_5'UTR NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 181 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCCAAATCGCGCAGCGCTCG 0.562000 16 21 0 0 0.000117367 0 0 CLMP 79827 broad.mit.edu 37 11 122953836 122953836 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr11:122953836G>A uc001pyt.3 - 4 995 c.636C>T c.(634-636)aaC>aaT p.N212N NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN Homo sapiens CXADR-like membrane protein (CLMP), mRNA. 212 Ig-like C2-type 2. integral to membrane|tight junction endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 14 TCCCAGCTTCGTTGCCTGCTG 0.453000 64 8 0 0 0.000442599 0 0 DYNLRB1 83658 broad.mit.edu 37 20 33122560 33122560 + Silent SNP C A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr20:33122560C>A uc002xal.3 + 2 268 c.208C>A c.(208-210)Cga>Aga p.R70R DYNLRB1_uc010zuk.2_Silent_p.R70R NM_014183 NP_054902 Q9NP97 DLRB1_HUMAN Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA. 70 microtubule-based movement|transport|visual behavior centrosome|cytoplasmic dynein complex|microtubule microtubule motor activity endometrium(1)|large_intestine(1)|lung(1) 3 CACCTTCCTTCGAATTCGCTC 0.537000 50 7 5.18039e-06 0.000123242 0.000157383 1 0 ZNF536 9745 broad.mit.edu 37 19 31039944 31039944 + Missense_Mutation SNP C A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr19:31039944C>A uc002nsu.1 + 3 3556 c.3418C>A c.(3418-3420)Cac>Aac p.H1140N ZNF536_uc010edd.1_Missense_Mutation_p.H1140N NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGGAAAGGCCCACTCTGAAGA 0.542000 44 14 4.3838e-07 1.05344e-05 0.000151284 1 0 SLC26A3 1811 broad.mit.edu 37 7 107418723 107418723 + Missense_Mutation SNP T A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr7:107418723T>A uc003ver.2 - 12 1622 c.1411A>T c.(1411-1413)Att>Ttt p.I471F SLC26A3_uc003ves.2_Missense_Mutation_p.I436F NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 471 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATGATCCAAATTAACTGTGAA 0.393000 34 5 0 0 0.000602214 0 0 FAF2 23197 broad.mit.edu 37 5 175927043 175927043 + Missense_Mutation SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:175927043C>T uc003mej.4 + 9 1104 c.1051C>T c.(1051-1053)Ccc>Tcc p.P351S NM_014613 NP_055428 Q96CS3 FAF2_HUMAN Homo sapiens Fas associated factor family member 2 (FAF2), mRNA. 351 response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 GGAATGCCTGCCCCCTGAACC 0.428000 111 14 0 0 0.000308642 0 0 EGFR 1956 broad.mit.edu 37 7 55221747 55221747 + Missense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr7:55221747G>A uc003tqk.3 + 6 1037 c.791G>A c.(790-792)tGc>tAc p.C264Y EGFR_uc003tqh.3_Missense_Mutation_p.C264Y|EGFR_uc003tqi.3_Missense_Mutation_p.C264Y|EGFR_uc003tqj.3_Missense_Mutation_p.C264Y|EGFR_uc022adm.1_Missense_Mutation_p.C264Y|EGFR_uc010kzg.2_Missense_Mutation_p.C219Y|EGFR_uc022adn.1_Missense_Mutation_p.C219Y|EGFR_uc011kco.2_Missense_Mutation_p.C211Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 264 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 MAP kinase activity|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 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 UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.T263P(4) 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) AAGGACACCTGCCCCCCACTC 0.577000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 44 9 0 0 0.000442599 0 0 ZNF208 7757 broad.mit.edu 37 19 22154362 22154362 + Silent SNP A G G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr19:22154362A>G uc021urr.1 - 3 3623 c.3474T>C c.(3472-3474)taT>taC p.Y1158Y ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTTCTTATGATAACTAAGGG 0.353000 41 5 0 0 8.12818e-05 0 0 IFNA21 3452 broad.mit.edu 37 9 21166051 21166051 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr9:21166051C>T uc003zom.2 - 0 609 c.561G>A c.(559-561)agG>agA p.R187R NM_002175 NP_002166 P01568 IFN21_HUMAN Homo sapiens interferon, alpha 21 (IFNA21), mRNA. 187 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TTCATTCCTTCCTCCTTAATC 0.383000 79 16 0 0 0.000308642 0 0 OR1A2 26189 broad.mit.edu 37 17 3100984 3100984 + Missense_Mutation SNP C A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr17:3100984C>A uc002fvd.1 + 0 172 c.172C>A c.(172-174)Ccc>Acc p.P58T NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 CCTTCACAACCCCATGTATTT 0.458000 229 27 2.80507e-11 7.25355e-10 0.000409698 1 0 GRIN2B 2904 broad.mit.edu 37 12 13717349 13717349 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr12:13717349G>A uc001rbt.2 - 12 3002 c.2823C>T c.(2821-2823)ttC>ttT p.F941F NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 941 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CAGAATGCGTGAAGCTGCGGC 0.557000 113 20 0 0 0.000229342 0 0 XK 7504 broad.mit.edu 37 X 37545249 37545249 + Missense_Mutation SNP T G G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chrX:37545249T>G uc004ddq.3 + 0 117 c.35T>G c.(34-36)tTc>tGc p.F12C NM_021083 NP_066569 P51811 XK_HUMAN Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA. 12 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) GCGTCCGTGTTCCTGTTCGTG 0.697000 2 3 0 0 0.00024832 0 0 FANCC 2176 broad.mit.edu 37 9 97887370 97887370 + Missense_Mutation SNP G T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr9:97887370G>T uc022bkl.1 - 9 1198 c.994C>A c.(994-996)Cag>Aag p.Q332K FANCC_uc004avh.3_Missense_Mutation_p.Q332K|FANCC_uc004avi.4_Missense_Mutation_p.Q332K|BC041030_uc004avj.3_5'Flank NM_001243743 NP_001230672 Q00597 FANCC_HUMAN Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA. 332 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) TAACAAACCTGCTTGCTTGCT 0.418000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 27 14 0.000308642 0.00712873 0.000308642 1 0 INPP4A 3631 broad.mit.edu 37 2 99149957 99149957 + Splice_Site SNP A G G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr2:99149957A>G uc002syy.3 + 5 663 c.270_splice c.e5+1 p.E90_splice INPP4A_uc010yvj.1_Splice_Site_p.E90_splice|INPP4A_uc010yvk.2_Splice_Site_p.E90_splice|INPP4A_uc002syx.3_Splice_Site_p.E90_splice|INPP4A_uc010fik.3_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA. 90 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GAGATCATTGAGGTGGGTGCT 0.522000 52 5 0 0 3.59834e-05 0 0 TTN 7273 broad.mit.edu 37 2 179597184 179597184 + Missense_Mutation SNP G T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr2:179597184G>T uc021vsy.1 - 52 13097 c.12872C>A c.(12871-12873)gCa>gAa p.A4291E TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A952E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5218 Ig-like 23. I -> T (in a colorectal adenocarcinoma sample; somatic mutation). ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A4291fs*2(1) 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) AAACAAGTTTGCACTGCATTC 0.388000 65 13 4.3838e-07 1.05344e-05 0.000151284 1 0 RP1 6101 broad.mit.edu 37 8 55540425 55540425 + Missense_Mutation SNP C A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr8:55540425C>A uc003xsd.1 + 3 4131 c.3983C>A c.(3982-3984)cCa>cAa p.P1328Q RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1328 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGAGCTTGCCCAATTGATGAG 0.403000 114 7 0.000157383 0.00367073 0.000157383 1 0 MAGI1 9223 broad.mit.edu 37 3 65342698 65342698 + Silent SNP G T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr3:65342698G>T uc003dmn.3 - 22 4270 c.3744C>A c.(3742-3744)ccC>ccA p.P1248P MAGI1_uc003dmm.3_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 1277 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGTGAAGATCGGGTGGGTAAC 0.612000 64 10 4.3838e-07 1.05344e-05 0.000151284 1 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr16:72821615G>A uc002fck.3 - 9 11233 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.G2606G NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 20 5 0 0 0.000602214 0 0 ZNF333 84449 broad.mit.edu 37 19 14806397 14806397 + Silent SNP C T T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr19:14806397C>T uc002mzn.3 + 3 281 c.147C>T c.(145-147)ccC>ccT p.P49P ZNF333_uc010dzq.2_Silent_p.P49P|ZNF333_uc002mzk.4_5'UTR|ZNF333_uc002mzl.3_Silent_p.P49P|ZNF333_uc010dzr.1_Non-coding_Transcript NM_032433 NP_115809 Q96JL9 ZN333_HUMAN Homo sapiens zinc finger protein 333 (ZNF333), mRNA. 49 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P49L(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 CATGCAAACCCAGTTGTGTCT 0.527000 29 11 0 0 6.40141e-05 0 0 MGAM 8972 broad.mit.edu 37 7 141799419 141799419 + Missense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr7:141799419G>A uc003vwy.3 + 43 5122 c.5068G>A c.(5068-5070)Gat>Aat p.D1690N NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1690 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCAGGGTGTGGATATTAATGC 0.537000 52 51 0 0 0.000147903 0 0 SLC7A11 23657 broad.mit.edu 37 4 139163201 139163201 + Missense_Mutation SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr4:139163201G>A uc021xrw.1 - 0 303 c.23C>T c.(22-24)tCc>tTc p.S8F NM_014331 NP_055146 Q9UPY5 XCT_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA. 8 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) GGAGATGGTGGACACAACAGG 0.493000 21 6 0 0 3.59834e-05 0 0 ANPEP 290 broad.mit.edu 37 15 90347174 90347174 + Silent SNP G A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr15:90347174G>A uc002bop.4 - 6 1531 c.1239C>T c.(1237-1239)ttC>ttT p.F413F NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 413 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CGTAGGAGGCGAAGCCCTCGT 0.642000 23 14 0 0 7.07596e-05 0 0 OR52N1 79473 broad.mit.edu 37 11 5809489 5809489 + Silent SNP C A A TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr11:5809489C>A uc010qzo.2 - 0 558 c.558G>T c.(556-558)gtG>gtT p.V186V TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA. 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATATCTTGGCCACAGACATGT 0.493000 23 22 5.26018e-13 1.39044e-11 0.000229342 1 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG - - TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr1:1850628_1850636delAGCGGCAGG uc001aij.2 - 0 105_113 c.69_77delCCTGCCGCT c.(67-78)ctcctgccgctg>ctg p.23_26LLPL>L TMEM52_uc001aii.2_5'Flank NM_178545 NP_848640 Q8NDY8 TMM52_HUMAN Homo sapiens transmembrane protein 52 (TMEM52), mRNA. 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 --- 5 --- --- 5 --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG - - TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr5:149216400_149216402delCAG uc003lrc.3 + 7 2473_2475 c.2382_2384delCAG c.(2380-2385)gacagc>gac p.S799del PPARGC1B_uc003lrb.2_In_Frame_Del_p.S799del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.S760del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.S735del|PPARGC1B_uc003lre.1_In_Frame_Del_p.S778del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.S778del NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 799 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 --- 127 --- --- 7 --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG - - rs2234451 byFrequency TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr11:5529918_5529920delTGG uc021qcw.1 - 0 869_871 c.869_871delCCA c.(868-873)accagc>agc p.T290del HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_In_Frame_Del_p.T290del NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 --- 167 --- --- 8 --- CPD 1362 broad.mit.edu 37 17 28769357 28769358 + Frame_Shift_Del DEL AA - - TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc5d0f51-0461-4183-bbda-a47dbfbb0052 2ad50067-18fc-4eee-ae12-3db1c6a59847 g.chr17:28769357_28769358delAA uc002hfb.2 + 9 2319_2320 c.2262_2263delAA c.(2260-2265)acaaatfs p.T754fs CPD_uc010wbo.2_Frame_Shift_Del_p.T507fs|CPD_uc010wbp.2_Non-coding_Transcript NM_001304 NP_001295 O75976 CBPD_HUMAN Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA. 754 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 ATTTACAAACAAATTGCTTTGA 0.361 --- 119 --- --- 23 ---