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 EPHB6 2051 broad.mit.edu 37 7 142562309 142562309 + Missense_Mutation SNP G T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:142562309G>T uc011kst.2 + 6 1538 c.751G>T c.(751-753)Ggg>Tgg p.G251W EPHB6_uc011ksu.2_Missense_Mutation_p.G251W|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 251 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGTGGGGCTGGGGGGGCCTC 0.682000 58 33 7.61165e-28 2.10884e-26 0.000109025 1 0 BC101079 0 broad.mit.edu 37 15 102294715 102294715 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr15:102294715C>T uc010usj.2 + 4 602 c.543C>T c.(541-543)gaC>gaT p.D181D DQ597539_uc002bxo.3_5'Flank|DQ593864_uc002bxq.2_5'Flank|DQ582666_uc002bxr.3_5'Flank|DQ597539_uc002bxs.3_5'Flank|DQ575740_uc002bxu.1_5'Flank|DQ582460_uc002bxv.1_5'Flank|DQ593630_uc002bxw.1_5'Flank|DQ575740_uc021sxz.1_5'Flank|DQ582460_uc021sya.1_5'Flank|DQ597539_uc021syb.1_5'Flank|DQ582666_uc002bxy.2_5'Flank|DQ575740_uc021syd.1_5'Flank|DQ582460_uc002byb.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank|DQ597703_uc021syi.1_5'Flank|DQ588362_uc002bys.3_5'Flank|DQ588425_uc002byv.3_5'Flank|DQ578285_uc002byx.4_5'Flank|DQ597461_uc021syl.1_5'Flank|DQ586138_uc002bza.3_5'Flank|DQ578289_uc002bzb.3_5'Flank|DQ586526_uc002bzc.1_5'Flank|DQ583497_uc002bze.3_5'Flank|DQ597703_uc002bzg.2_5'Flank|DQ586138_uc002bzi.2_5'Flank|DQ586526_uc002bzl.3_5'Flank|DQ588439_uc002bzm.3_5'Flank|DQ597703_uc002bzo.3_5'Flank|DQ576933_uc002bzp.3_5'Flank|DQ588425_uc002bzq.3_5'Flank|DQ600537_uc002bzr.3_5'Flank Homo sapiens cDNA clone IMAGE:40009338. AGCAGGCAGACCAAGGAGTTC 0.587000 2 3 0 0 0.00024832 0 0 LYPD6B 130576 broad.mit.edu 37 2 150071082 150071082 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:150071082G>A uc002twv.1 + 6 883 c.482G>A c.(481-483)gGa>gAa p.G161E LYPD6B_uc002tww.1_Missense_Mutation_p.G123E|LYPD6B_uc002twx.1_Missense_Mutation_p.G123E NM_177964 NP_808879 Q8NI32 LPD6B_HUMAN Homo sapiens LY6/PLAUR domain containing 6B (LYPD6B), mRNA. 137 anchored to membrane|plasma membrane p.E160D(1) endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 TGCTGTGAAGGAATGATCTGC 0.433000 38 32 0 0 0.000191422 0 0 AK8 158067 broad.mit.edu 37 9 135698650 135698650 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr9:135698650C>T uc004cbu.1 - 8 1387 c.831G>A c.(829-831)gtG>gtA p.V277V AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Silent_p.V73V NM_152572 NP_689785 Q96MA6 KAD8_HUMAN Homo sapiens adenylate kinase 8 (AK8), mRNA. 277 Adenylate kinase. cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity p.V277V(3) NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 TCCCACTGCCCACAGGCCCGA 0.577000 82 57 0 0 0.000147903 0 0 FAM123C 205147 broad.mit.edu 37 2 131520378 131520378 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:131520378G>A uc021voy.1 + 0 733 c.733G>A c.(733-735)Gac>Aac p.D245N FAM123C_uc002trw.2_Missense_Mutation_p.D245N|FAM123C_uc010fmv.2_Missense_Mutation_p.D245N|FAM123C_uc010fms.1_Missense_Mutation_p.D245N|FAM123C_uc010fmt.1_Missense_Mutation_p.D245N|FAM123C_uc010fmu.1_Missense_Mutation_p.D245N NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 245 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CCAGAGCTTCGACTCGCTCAC 0.647000 53 31 0 0 0.000228196 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414883 121414883 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:121414883G>A uc010hrc.3 - 12 4613 c.4487C>T c.(4486-4488)tCc>tTc p.S1496F GOLGB1_uc003eei.4_Missense_Mutation_p.S1491F|GOLGB1_uc003eej.4_Missense_Mutation_p.S1457F|GOLGB1_uc021xcy.1_Missense_Mutation_p.S1416F|GOLGB1_uc011bjm.1_Missense_Mutation_p.S1377F|GOLGB1_uc010hrd.1_Missense_Mutation_p.S1455F NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 1491 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTCTTTTCGGGAAATAAGGGC 0.418000 120 80 0 0 0.000147903 0 0 IL36RN 26525 broad.mit.edu 37 2 113818515 113818515 + Splice_Site SNP G T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:113818515G>T uc002tis.3 + 3 248 c.115_splice c.e3+1 p.G39_splice IL36RN_uc002tit.3_Splice_Site_p.G39_splice NM_173170 NP_775262 Q9UBH0 I36RA_HUMAN Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA. 39 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 GTCATTAAAGGTTGGTGATGA 0.473000 24 9 6.40141e-05 0.00172727 6.40141e-05 1 0 ACTL8 81569 broad.mit.edu 37 1 18149591 18149591 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:18149591C>T uc001bat.3 + 1 304 c.88C>T c.(88-90)Ccg>Tcg p.P30S NM_030812 NP_110439 Q9H568 ACTL8_HUMAN Homo sapiens actin-like 8 (ACTL8), mRNA. 30 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GATGGTCTTCCCGAACATCGT 0.582000 6 26 0 0 0.00047179 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573706 140573706 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:140573706C>T uc003lix.3 + 0 1755 c.1581C>T c.(1579-1581)ttC>ttT p.F527F NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 527 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAGGCTTTCGAGTTCCGCG 0.692000 77 34 0 0 0.00058488 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401460 77401460 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr16:77401460C>T uc002ffc.4 - 3 1075 c.656G>A c.(655-657)gGc>gAc p.G219D ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 219 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G219V(2)|p.G216_G219del(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CCGGCCAGAGCCGGGGTAGCC 0.547000 31 10 0 0 6.40141e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec 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 2 53 0 0 0.000147903 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481316 142481317 + Missense_Mutation DNP TG CA CA rs140068138 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:142481316_142481317TG>CA uc011ksq.2 + 2 473_474 c.390_391TG>CA c.(388-393)actgcc>acCAcc p.A131T TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. CTCTGCCCACTGCCCCTCCAGC 0.550000 32 7 0 0 6.4e-05 0 0 ODZ1 10178 broad.mit.edu 37 X 123587303 123587303 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:123587303C>T uc010nqy.3 - 22 4052 c.3988G>A c.(3988-3990)Gat>Aat p.D1330N ODZ1_uc011muj.2_Missense_Mutation_p.D1329N|ODZ1_uc004euj.3_Missense_Mutation_p.D1323N NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1323 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 ATAGTCCCATCCACAAAGTAA 0.428000 49 25 0 0 0.000586117 0 0 RNF130 55819 broad.mit.edu 37 5 179393941 179393941 + Silent SNP G T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:179393941G>T uc003mll.1 - 6 1422 c.1015C>A c.(1015-1017)Cga>Aga p.R339R RNF130_uc003mlm.1_Silent_p.R339R NM_018434 NP_060904 Q86XS8 GOLI_HUMAN Homo sapiens ring finger protein 130 (RNF130), mRNA. 339 apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 17 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGATCTTCGGTTAACAGCT 0.507000 99 6 0.000157383 0.00421 0.000157383 1 0 BRWD3 254065 broad.mit.edu 37 X 79978275 79978275 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:79978275C>T uc004edt.3 - 16 1925 c.1662G>A c.(1660-1662)caG>caA p.Q554Q BRWD3_uc004edp.3_Silent_p.Q383Q|BRWD3_uc004edq.3_Silent_p.Q150Q|BRWD3_uc010nmj.2_Silent_p.Q150Q|BRWD3_uc004edr.3_Silent_p.Q224Q|BRWD3_uc004eds.3_Silent_p.Q150Q|BRWD3_uc004edo.3_Silent_p.Q150Q|BRWD3_uc004edu.3_Silent_p.Q224Q|BRWD3_uc004edv.3_Silent_p.Q150Q|BRWD3_uc004edw.3_Silent_p.Q150Q|BRWD3_uc004edx.3_Silent_p.Q150Q|BRWD3_uc004edy.3_Silent_p.Q150Q|BRWD3_uc004edz.3_Silent_p.Q224Q|BRWD3_uc004eea.3_Silent_p.Q224Q|BRWD3_uc004eeb.3_Silent_p.Q150Q NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 554 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GGAAGAACATCTGATCTGGAA 0.373000 27 24 0 0 9.22233e-05 0 0 CST4 1472 broad.mit.edu 37 20 23669384 23669384 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr20:23669384C>T uc002wto.1 - 0 279 c.223G>A c.(223-225)Gag>Aag p.E75K NM_001899 NP_001890 P01036 CYTS_HUMAN Homo sapiens cystatin S (CST4), mRNA. 75 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) CCCACCTGCTCCCTGGCTCGC 0.597000 35 16 0 0 0.000308642 0 0 KIAA0319 9856 broad.mit.edu 37 6 24578408 24578408 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr6:24578408C>T uc011djo.2 - 8 1935 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K KIAA0319_uc011djp.2_Missense_Mutation_p.E434K|KIAA0319_uc003neh.1_Missense_Mutation_p.E479K|KIAA0319_uc011djq.1_Missense_Mutation_p.E470K|KIAA0319_uc011djr.1_Missense_Mutation_p.E479K|KIAA0319_uc010jpt.1_5'UTR NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 479 PKD 2. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GTCTTCTCTTCTATGAAGGGC 0.393000 36 24 0 0 0.000375601 0 0 C12orf54 121273 broad.mit.edu 37 12 48888647 48888647 + Silent SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:48888647G>A uc001rrr.3 + 7 440 c.309G>A c.(307-309)gaG>gaA p.E103E C12orf54_uc009zky.1_Non-coding_Transcript NM_152319 NP_689532 Q6X4T0 CL054_HUMAN Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA. 103 endometrium(1)|large_intestine(4) 5 GCTCTGGAGAGCAGCCATCAG 0.473000 58 98 0 0 0.000147903 0 0 COL22A1 169044 broad.mit.edu 37 8 139697492 139697492 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:139697492C>T uc003yvd.3 - 37 3373 c.2926G>A c.(2926-2928)Ggg>Agg p.G976R COL22A1_uc011ljo.2_Missense_Mutation_p.G276R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 976 Collagen-like 8.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGGAGCCCAGGAGCACCA 0.582000 HNSCC(7;0.00092) 36 6 0 0 8.12818e-05 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 40 9 0 0 3.86212e-05 0 0 CACNA1B 774 broad.mit.edu 37 9 140870378 140870378 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr9:140870378C>T uc004cog.3 + 11 1708 c.1563C>T c.(1561-1563)ttC>ttT p.F521F CACNA1B_uc022bqn.1_Silent_p.F521F|CACNA1B_uc011mfd.2_Silent_p.F123F NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 521 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AGTTTGTTTTCCTGGGTCTCT 0.562000 18 10 0 0 6.40141e-05 0 0 abParts 0 broad.mit.edu 37 22 22663086 22663087 + RNA DNP TA GG GG rs1054158 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr22:22663086_22663087TA>GG uc021wml.1 + 30 c.2444_2445TA>GG abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript Parts of antibodies, mostly variable regions. AGCTGCCACATAAGTTGTCCTT 0.302000 9 5 0 0 6.4e-05 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917534 65917534 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr15:65917534C>T uc010ujf.2 + 1 1403 c.1116C>T c.(1114-1116)tcC>tcT p.S372S SLC24A1_uc010ujd.1_Silent_p.S372S|SLC24A1_uc010uje.1_Silent_p.S372S|SLC24A1_uc010ujg.2_Silent_p.S372S|SLC24A1_uc010ujh.2_Silent_p.S372S NM_004727 NP_004718 O60721 NCKX1_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA. 372 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 AGAAACCTTCCACAGCACCCA 0.557000 26 14 0 0 0.000219431 0 0 IL5RA 3568 broad.mit.edu 37 3 3144437 3144437 + Nonsense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:3144437C>T uc011ask.2 - 4 794 c.150G>A c.(148-150)tgG>tgA p.W50* IL5RA_uc010hbq.3_Nonsense_Mutation_p.W50*|IL5RA_uc010hbr.3_Nonsense_Mutation_p.W50*|IL5RA_uc010hbs.3_Nonsense_Mutation_p.W50*|IL5RA_uc011asl.2_Nonsense_Mutation_p.W50*|IL5RA_uc011asm.1_Nonsense_Mutation_p.W50*|IL5RA_uc010hbt.2_Nonsense_Mutation_p.W50*|IL5RA_uc011asn.1_Nonsense_Mutation_p.W50*|IL5RA_uc010hbu.2_Nonsense_Mutation_p.W50* NM_000564 NP_783853 Q01344 IL5RA_HUMAN Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA. 50 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) GATTTGGTTTCCATTGTAAAA 0.333000 32 14 0 0 0.000151284 0 0 EZH1 2145 broad.mit.edu 37 17 40861891 40861891 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:40861891G>A uc010wgu.2 - 11 1520 c.1484C>T c.(1483-1485)cCc>cTc p.P495L EZH1_uc002iaz.3_Missense_Mutation_p.P489L|EZH1_uc002iba.3_Missense_Mutation_p.P480L|EZH1_uc010wgt.2_Missense_Mutation_p.P419L|EZH1_uc010wgv.2_Missense_Mutation_p.P449L|EZH1_uc010wgw.2_Missense_Mutation_p.P350L|EZH1_uc010cyp.2_Missense_Mutation_p.P390L|EZH1_uc010cyq.2_Missense_Mutation_p.P406L|EZH1_uc010cyo.1_Missense_Mutation_p.P152L|EZH1_uc010cyr.1_Missense_Mutation_p.P141L NM_001991 NP_001982 Q92800 EZH1_HUMAN Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA. 489 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|chromatin binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CTTCTGTGAGGGGTTCATGAG 0.483000 40 47 0 0 0.000147903 0 0 ACRC 93953 broad.mit.edu 37 X 70823635 70823635 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:70823635G>A uc004eae.2 + 7 1009 c.508G>A c.(508-510)Gac>Aac p.D170N BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN Homo sapiens acidic repeat containing (ACRC), mRNA. 170 Asp/Ser-rich. nucleus p.D170D(1)|p.P169P(1) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) GGAAGCTCCCGACGACAACAG 0.502000 130 93 0 0 0.000147903 0 0 ABCB1 5243 broad.mit.edu 37 7 87179329 87179329 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:87179329C>T uc003uiz.2 - 13 1885 c.1392G>A c.(1390-1392)agG>agA p.R464R ABCB1_uc011khc.2_Silent_p.R400R NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 464 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCCGTAGAAACCTTACATTTA 0.408000 53 34 0 0 0.00058488 0 0 ZHX2 22882 broad.mit.edu 37 8 123965169 123965169 + Silent SNP C T T rs148698137 byFrequency TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:123965169C>T uc022bag.1 + 0 1419 c.1419C>T c.(1417-1419)atC>atT p.I473I ZHX2_uc003ypk.1_Silent_p.I473I NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 473 Required for interaction with NFYA. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ACCGGCTCATCGAGGTGACTG 0.557000 12 9 0 0 0.000274275 0 0 MOCOS 55034 broad.mit.edu 37 18 33800069 33800069 + Missense_Mutation SNP A G G TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr18:33800069A>G uc002kzq.4 + 8 1872 c.1849A>G c.(1849-1851)Atg>Gtg p.M617V NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA. 617 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) CCGGAGCTGGATGGTTGTGAA 0.537000 60 36 0 0 0.000270559 0 0 HTR2A 3356 broad.mit.edu 37 13 47469888 47469888 + Nonsense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr13:47469888G>A uc010acr.3 - 1 843 c.154C>T c.(154-156)Cga>Tga p.R52* HTR2A_uc001vbr.3_Intron NM_000621 NP_000612 P28223 5HT2A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA. 52 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGGTTGGTTCGATTTTCAGAG 0.443000 51 40 0 0 0.000374591 0 0 DISP1 84976 broad.mit.edu 37 1 223176194 223176195 + Missense_Mutation DNP CG AT AT TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:223176194_223176195CG>AT uc001hnu.2 + 9 1781_1782 c.1455_1456CG>AT c.(1453-1458)accggg>acATgg p.G486W NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 486 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CTACCATCACCGGGATTGAGTT 0.426000 561 17 0 0 6.4e-05 0 0 ACSL5 51703 broad.mit.edu 37 10 114186028 114186028 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr10:114186028G>A uc001kzu.3 + 18 2030 c.1918G>A c.(1918-1920)Gga>Aga p.G640R ACSL5_uc001kzs.3_Missense_Mutation_p.G584R|ACSL5_uc001kzt.3_Missense_Mutation_p.G584R|ACSL5_uc009xxz.3_Missense_Mutation_p.G584R|ACSL5_uc010qrj.2_Missense_Mutation_p.G366R NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 584 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) ATCCTTAGTAGGAGTGGTGGT 0.448000 7 33 0 0 0.000319135 0 0 NTRK1 4914 broad.mit.edu 37 1 156849015 156849015 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:156849015C>T uc001fqh.1 + 14 1963 c.1907C>T c.(1906-1908)gCg>gTg p.A636V NTRK1_uc001fqf.1_Missense_Mutation_p.A600V|NTRK1_uc009wsi.1_Missense_Mutation_p.A335V|NTRK1_uc001fqi.1_Missense_Mutation_p.A630V|NTRK1_uc009wsk.1_Missense_Mutation_p.A633V NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 636 Protein kinase. Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity p.A636A(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CAGGTCGCTGCGGGGATGGTG 0.637000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 19 12 0 0 0.00010058 0 0 RS1 6247 broad.mit.edu 37 X 18660162 18660162 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:18660162G>A uc004cyo.3 - 5 672 c.637C>T c.(637-639)Cgg>Tgg p.R213W CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron NM_000330 NP_000321 O15537 XLRS1_HUMAN Homo sapiens retinoschisin 1 (RS1), mRNA. 213 F5/8 type C. R -> Q (in XLRS1).|R -> W (in XLRS1). cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space p.R213Q(1) cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1) 15 Hepatocellular(33;0.183) AGCTCCATCCGGATGGCAATG 0.682000 46 31 0 0 0.000339439 0 0 TKT 7086 broad.mit.edu 37 3 53260800 53260800 + Silent SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:53260800G>A uc003dgo.3 - 12 1840 c.1668C>T c.(1666-1668)atC>atT p.I556I TKT_uc003dgp.2_Silent_p.I188I|TKT_uc011beo.1_Silent_p.I509I|TKT_uc003dgq.3_Silent_p.I556I|TKT_uc011beq.2_Silent_p.I564I|TKT_uc011ber.2_Silent_p.I358I NM_001135055 NP_001128527 P29401 TKT_HUMAN Homo sapiens transketolase (TKT), transcript variant 2, mRNA. 556 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) CCACGGTGAGGATCCTGCCCT 0.587000 24 25 0 0 0.000375601 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110413798 110413798 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:110413798C>T uc003yne.3 + 13 1458 c.1354C>T c.(1354-1356)Cat>Tat p.H452Y NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 452 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGATGATATTCATCTGCAGAA 0.318000 HNSCC(38;0.096) 13 11 0 0 0.000151284 0 0 WNK3 65267 broad.mit.edu 37 X 54263821 54263821 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:54263821G>A uc004dtc.2 - 19 4617 c.4178C>T c.(4177-4179)tCg>tTg p.S1393L WNK3_uc004dtd.2_Missense_Mutation_p.S1346L NM_020922 NP_065973 Q9BYP7 WNK3_HUMAN Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA. 1346 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity p.S1393*(2) autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ATAAGAAAACGAAGTTTTTGG 0.378000 68 40 0 0 0.000270559 0 0 DOT1L 84444 broad.mit.edu 37 19 2226433 2226433 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr19:2226433G>A uc002lvc.1 + 12 2562 c.1795G>A c.(1795-1797)Gga>Aga p.G599R DOT1L_uc002lvb.4_Missense_Mutation_p.G1305R NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 1305 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGGCTGACGGACTCAGCCC 0.677000 15 18 0 0 0.000132079 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107462 107462 + RNA SNP A T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrGL000211.1:107462A>T uc003boa.3 + 4 c.1002A>T Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. GTAAGGGTCAATTTTTTATAT 0.294000 68 8 0 0 0.000442599 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130460844 130460844 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr6:130460844C>T uc003qbt.3 + 22 2465 c.2289C>T c.(2287-2289)ttC>ttT p.F763F L3MBTL3_uc003qbu.3_Silent_p.F738F NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA. 763 SAM. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TCAAAATTTTCAATTCCATCC 0.363000 31 22 0 0 0.000229342 0 0 RNF217 154214 broad.mit.edu 37 6 125397968 125397968 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr6:125397968C>T uc003pzr.3 + 3 1276 c.742C>T c.(742-744)Cct>Tct p.P248S RNF217_uc003pzs.3_Missense_Mutation_p.P191S|RNF217_uc003pzt.3_Non-coding_Transcript Q8TC41 RN217_HUMAN Homo sapiens ring finger protein 217 (RNF217), mRNA. 191 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CCCAGAGAGACCTCATTTAAG 0.448000 33 23 0 0 9.22233e-05 0 0 NUP205 23165 broad.mit.edu 37 7 135303182 135303182 + Missense_Mutation SNP A G G TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:135303182A>G uc003vsw.3 + 27 3825 c.3794A>G c.(3793-3795)tAt>tGt p.Y1265C NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 1265 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GTACTTCAGTATGTGGTAGGA 0.393000 15 54 0 0 0.000147903 0 0 SCN5A 6331 broad.mit.edu 37 3 38639416 38639416 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:38639416C>T uc021wvo.1 - 12 2118 c.2066G>A c.(2065-2067)cGt>cAt p.R689H SCN5A_uc021wvk.1_Missense_Mutation_p.R689H|SCN5A_uc021wvl.1_Missense_Mutation_p.R689H|SCN5A_uc021wvm.1_Missense_Mutation_p.R689H|SCN5A_uc021wvn.1_Missense_Mutation_p.R689H|SCN5A_uc021wvp.1_Missense_Mutation_p.R689H|SCN5A_uc021wvq.1_Missense_Mutation_p.R689H|SCN5A_uc021wvr.1_Missense_Mutation_p.R689H|SCN5A_uc021wvs.1_Missense_Mutation_p.R689H|SCN5A_uc021wvt.1_Missense_Mutation_p.R689H|SCN5A_uc021wvu.1_Missense_Mutation_p.R689H|SCN5A_uc021wvv.1_Missense_Mutation_p.R689H|SCN5A_uc021wvj.1_Missense_Mutation_p.R555H|SCN5A_uc021wvi.1_Missense_Mutation_p.R555H|SCN5A_uc021wvw.1_Missense_Mutation_p.R300H NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 689 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTGGGCGAGACGGTTCCAGCA 0.537000 47 42 0 0 0.000147903 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139755 142139755 + Silent SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:142139755G>A uc003vyt.3 - 0 61 c.16C>T c.(16-18)Cta>Tta p.L6L TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; ACCCAGCATAGGAGACTGGTG 0.537000 8 41 0 0 0.000147903 0 0 TBX4 9496 broad.mit.edu 37 17 59557471 59557471 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:59557471C>T uc010ddo.3 + 7 975 c.812C>T c.(811-813)tCc>tTc p.S271F TBX4_uc002izi.3_Missense_Mutation_p.S271F|TBX4_uc010woy.2_Missense_Mutation_p.S271F NM_018488 NP_060958 P57082 TBX4_HUMAN Homo sapiens T-box 4 (TBX4), mRNA. 271 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCCGTGATTTCCAAAAGCATC 0.597000 46 40 0 0 0.000270559 0 0 PLXNB3 5365 broad.mit.edu 37 X 153040478 153040478 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:153040478G>A uc010nuk.2 + 24 4415 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K PLXNB3_uc004fii.2_Missense_Mutation_p.E1359K|PLXNB3_uc011mzd.1_Missense_Mutation_p.E998K|PLXNB3_uc004fij.1_Non-coding_Transcript|SRPK3_uc004fik.3_5'Flank NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 1359 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGCCAGGGGAGGACGGCCA 0.687000 16 14 0 0 0.000308642 0 0 SERPINF2 5345 broad.mit.edu 37 17 1657592 1657592 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:1657592C>T uc002ftk.1 + 9 1317 c.1240C>T c.(1240-1242)Ccc>Tcc p.P414S SERPINF2_uc010vqr.1_Missense_Mutation_p.P350S|SERPINF2_uc021tnm.1_Missense_Mutation_p.P414S NM_000934 NP_001159392 P08697 A2AP_HUMAN Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA. 414 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CGTGAACCGCCCCTTCCTCTT 0.647000 53 45 0 0 0.000147903 0 0 MARCO 8685 broad.mit.edu 37 2 119750795 119750795 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:119750795G>A uc002tln.1 + 15 1480 c.1348G>A c.(1348-1350)Gag>Aag p.E450K MARCO_uc010yyf.1_Missense_Mutation_p.E372K NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 450 SRCR. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.D449D(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TTGCGATGACGAGTGGCAAAA 0.532000 68 34 0 0 0.000132358 0 0 DDX54 79039 broad.mit.edu 37 12 113612529 113612529 + Silent SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:113612529G>A uc001tuq.4 - 9 1012 c.984C>T c.(982-984)ctC>ctT p.L328L DDX54_uc001tup.3_Silent_p.L328L NM_001111322 NP_001104792 Q8TDD1 DDX54_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA. 328 Helicase C-terminal. RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCAGCAGGTGGAGCAGCACGG 0.652000 OREG0022139 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 21 0 0 0.000229342 0 0 ABCC3 8714 broad.mit.edu 37 17 48741454 48741454 + Silent SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:48741454G>A uc002isl.3 + 9 1400 c.1320G>A c.(1318-1320)gcG>gcA p.A440A ABCC3_uc002isk.4_Silent_p.A440A|ABCC3_uc002ism.3_Missense_Mutation_p.D153N NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 440 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCATCCTGGCGATCTACTTCC 0.552000 46 32 0 0 0.00058488 0 0 OR4C3 256144 broad.mit.edu 37 11 48346646 48346646 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:48346646C>T uc010rhv.2 + 0 154 c.154C>T c.(154-156)Ctc>Ttc p.L52F NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 ACAGAGAGTTCTCTTTGTGGT 0.473000 52 32 0 0 0.000227799 0 0 FRG1 2483 broad.mit.edu 37 4 190876268 190876268 + Missense_Mutation SNP A G G rs145193566 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr4:190876268A>G uc003izs.3 + 4 585 c.394A>G c.(394-396)Att>Gtt p.I132V NM_004477 NP_004468 Q14331 FRG1_HUMAN Homo sapiens FSHD region gene 1 (FRG1), mRNA. 132 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.I132T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TTCAGATGCAATTGGACCAAG 0.358000 92 5 0 0 0.000274275 0 0 TSEN2 80746 broad.mit.edu 37 3 12558112 12558112 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:12558112C>T uc003bxc.3 + 6 1299 c.912C>T c.(910-912)gcC>gcT p.A304A TSEN2_uc003bwz.3_Silent_p.A245A|TSEN2_uc003bxa.3_Silent_p.A278A|TSEN2_uc011auq.1_Silent_p.A278A|TSEN2_uc003bxb.3_Silent_p.A304A|TSEN2_uc011aur.1_Silent_p.A213A NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA. 304 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 ATTTTCAGGCCTTTTTCTTGG 0.333000 398 218 0 0 0.000147903 0 0 XYLB 9942 broad.mit.edu 37 3 38417659 38417660 + Missense_Mutation DNP CC TT TT TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:38417659_38417660CC>TT uc003cic.2 + 12 1165_1166 c.1056_1057CC>TT c.(1054-1059)tcccgt>tcTTgt p.R353C XYLB_uc011ayp.1_Missense_Mutation_p.R216C|XYLB_uc003cid.1_Missense_Mutation_p.R275C NM_005108 NP_005099 O75191 XYLB_HUMAN Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA. 353 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) AGTCTGTATCCCGTTCCTGGAG 0.559000 79 46 0 0 6.4e-05 0 0 CPXM2 119587 broad.mit.edu 37 10 125539769 125539769 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr10:125539769G>A uc001lhk.1 - 6 1217 c.892C>T c.(892-894)Cct>Tct p.P298S CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 298 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TAATTATTAGGATCTAGGGAC 0.468000 20 48 0 0 0.000125731 0 0 TTBK1 84630 broad.mit.edu 37 6 43227378 43227378 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr6:43227378G>A uc003ouq.1 + 11 1637 c.1358G>A c.(1357-1359)aGg>aAg p.R453K NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 453 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.R452Q(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CGCTACCGGAGGGTGAACAGC 0.682000 7 5 0 0 3.59834e-05 0 0 TEX26 122046 broad.mit.edu 37 13 31549009 31549009 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr13:31549009C>T uc001uti.3 + 6 854 c.835C>T c.(835-837)Cgt>Tgt p.R279C NM_152325 NP_689538 Q8N6G2 CM026_HUMAN Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA. 279 TCGCTTTATTCGTACTCACTG 0.303000 15 7 0 0 0.000274275 0 0 TUBA3D 113457 broad.mit.edu 37 2 132240164 132240164 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:132240164G>A uc002tsu.4 + 4 1289 c.1096G>A c.(1096-1098)Gga>Aga p.G366R NM_080386 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA. 366 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GGTCCCCGGGGGAGACCTGGC 0.577000 38 21 0 0 0.000147802 0 0 TTN 7273 broad.mit.edu 37 2 179435636 179435636 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:179435636G>A uc021vsy.1 - 274 67744 c.67519C>T c.(67519-67521)Cac>Tac p.H22507Y MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H16202Y|TTN_uc021vta.1_Missense_Mutation_p.H16135Y|TTN_uc021vtb.1_Missense_Mutation_p.H16010Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23434 Fibronectin type-III 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATATCTGTGATCTTCAACT 0.423000 66 44 0 0 0.000509022 0 0 COL1A1 1277 broad.mit.edu 37 17 48268796 48268796 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:48268796C>T uc002iqm.3 - 31 2309 c.2183G>A c.(2182-2184)gGa>gAa p.G728E NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 728 Triple-helical region. G -> R (in OI2A). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCAGGCATTCCCTGAAGGCC 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 38 30 0 0 0.000491102 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619553 64619553 + Missense_Mutation SNP G T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:64619553G>T uc003dmg.3 - 12 1891 c.1859C>A c.(1858-1860)cCa>cAa p.P620Q ADAMTS9_uc011bfo.2_Missense_Mutation_p.P592Q|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P449Q|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P620Q NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 620 TSP type-1 1. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACCATTTTTTGGTCTGAAAAA 0.403000 104 71 6.66389e-18 1.81386e-16 0.000147903 1 0 CEACAM5 1048 broad.mit.edu 37 19 42222066 42222066 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr19:42222066C>T uc002orl.3 + 5 1378 c.1257C>T c.(1255-1257)acC>acT p.T419T CEACAM5_uc002orj.1_Silent_p.T418T NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 419 Ig-like 5. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) ACGACCCCACCATTTCCCCCT 0.542000 35 17 0 0 0.000229342 0 0 SPRR4 163778 broad.mit.edu 37 1 152944374 152944374 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:152944374C>T uc001fav.1 + 1 71 c.8C>T c.(7-9)tCc>tTc p.S3F SPRR4_uc021ozm.1_Missense_Mutation_p.S3F NM_173080 NP_775103 Q96PI1 SPRR4_HUMAN Homo sapiens small proline-rich protein 4 (SPRR4), mRNA. 3 keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCAATGTCTTCCcagcagcag 0.532000 39 40 0 0 0.000159656 0 0 ARID2 196528 broad.mit.edu 37 12 46233249 46233249 + Nonsense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:46233249C>T uc001ros.1 + 10 1468 c.1468C>T c.(1468-1470)Caa>Taa p.Q490* ARID2_uc001ror.3_Nonsense_Mutation_p.Q490*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q117*|ARID2_uc001rot.1_Nonsense_Mutation_p.Q136* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 490 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.V489V(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGAGCAAGTCCAAACCCAGAC 0.403000 """N, S, F""" hepatocellular carcinoma 11 53 0 0 0.000147903 0 0 OR4X1 390113 broad.mit.edu 37 11 48286113 48286114 + Missense_Mutation DNP CC TA TA TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:48286113_48286114CC>TA uc010rht.2 + 0 701_702 c.701_702CC>TA c.(700-702)gcc>gTA p.A234V NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CAGCACAAGGCCCTCTCCACCT 0.545000 39 28 0 0 6.4e-05 0 0 HTR1A 3350 broad.mit.edu 37 5 63256815 63256815 + Silent SNP T A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:63256815T>A uc011cqt.2 - 0 732 c.732A>T c.(730-732)gcA>gcT p.A244A NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 244 A -> AA (in Ref. 8). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGGCGGGAGATGCTCCATGGC 0.632000 34 19 0 0 0.000586117 0 0 SFPQ 6421 broad.mit.edu 37 1 35656521 35656521 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:35656521G>A uc001bys.3 - 2 1186 c.1093C>T c.(1093-1095)Cgc>Tgc p.R365C NM_005066 NP_005057 P23246 SFPQ_HUMAN Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA. 365 RRM 1. DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|RNA binding|nucleotide binding|protein binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GTGGCAAAGCGAACTCGAAGC 0.443000 T TFE3 papillary renal cell 11 25 0 0 0.00047179 0 0 VCAN 1462 broad.mit.edu 37 5 82817330 82817330 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:82817330G>A uc003kii.3 + 6 3561 c.3205G>A c.(3205-3207)Gat>Aat p.D1069N VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D1069N|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 1069 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACAAGAGGGCGATGGATCAGC 0.463000 22 20 0 0 0.000375601 0 0 GPR179 440435 broad.mit.edu 37 17 36499248 36499248 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:36499248G>A uc002hpz.3 - 0 446 c.425C>T c.(424-426)cCa>cTa p.P142L NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 142 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GTACACTCTTGGGTCCCCCTC 0.622000 24 16 0 0 0.000422831 0 0 TCF20 6942 broad.mit.edu 37 22 42609063 42609064 + Missense_Mutation DNP GG TT TT TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr22:42609063_42609064GG>TT uc003bcj.1 - 0 2382_2383 c.2248_2249CC>AA c.(2248-2250)cca>AAa p.P750K TCF20_uc003bck.1_Missense_Mutation_p.P750K NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CAGGAGGCTTGGGAATTTTTCA 0.505000 150 8 0 0 6.4e-05 0 0 FLG 2312 broad.mit.edu 37 1 152277111 152277111 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:152277111C>T uc001ezu.1 - 2 10287 c.10251G>A c.(10249-10251)caG>caA p.Q3417Q NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3417 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCTCGTGCCTGCTCGTGGT 0.602000 Ichthyosis 99 74 0 0 0.000147903 0 0 XDH 7498 broad.mit.edu 37 2 31588332 31588332 + Silent SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:31588332G>A uc002rnv.1 - 22 2614 c.2535C>T c.(2533-2535)gcC>gcT p.A845A NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 845 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCTTGTATCTGGCCAGGAAGG 0.577000 10 53 0 0 0.000147903 0 0 FLG 2312 broad.mit.edu 37 1 152283563 152283563 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:152283563C>T uc001ezu.1 - 2 3835 c.3799G>A c.(3799-3801)Gga>Aga p.G1267R AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1267 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACACTGGATCCCTGGTGCCTG 0.557000 Ichthyosis 89 68 0 0 0.000147903 0 0 ANK3 288 broad.mit.edu 37 10 62029942 62029942 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr10:62029942C>T uc001jky.3 - 4 798 c.460G>A c.(460-462)Gaa>Aaa p.E154K ANK3_uc010qih.2_Missense_Mutation_p.E137K|ANK3_uc001jkz.4_Missense_Mutation_p.E148K|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 154 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTGACAACTTCCAGGTGATTT 0.408000 9 34 0 0 0.000191422 0 0 CD163 9332 broad.mit.edu 37 12 7640410 7640410 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:7640410C>T uc001qsz.3 - 6 1822 c.1694G>A c.(1693-1695)gGa>gAa p.G565E CD163_uc001qta.3_Missense_Mutation_p.G565E|CD163_uc009zfw.2_Missense_Mutation_p.G565E NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 565 SRCR 5. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.G565R(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCTACAAGTTCCTTCTGGGCG 0.498000 45 30 0 0 0.000184323 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107511 107511 + RNA SNP A T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrGL000211.1:107511A>T uc003boa.3 + 4 c.1051A>T Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. AATGCAAATTATTTTGAAATA 0.279000 25 4 0 0 0.000602214 0 0 SPACA7 122258 broad.mit.edu 37 13 113053480 113053480 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr13:113053480C>T uc001vsd.2 + 3 391 c.342C>T c.(340-342)tcC>tcT p.S114S NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA. 114 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 TCAAAATTTCCAATGATGGTA 0.438000 14 11 0 0 0.00010058 0 0 GLT6D1 360203 broad.mit.edu 37 9 138517978 138517978 + Missense_Mutation SNP A C C TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr9:138517978A>C uc010nbd.1 - 3 448 c.194T>G c.(193-195)gTc>gGc p.V65G NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA. 65 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) TTTTTCCAGGACCCGCCTGTC 0.493000 39 4 0 0 3.86212e-05 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22884663 22884663 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:22884663C>T uc003xcu.2 - 6 1212 c.919G>A c.(919-921)Gag>Aag p.E307K TNFRSF10B_uc003xcs.1_Missense_Mutation_p.E72K|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.E127K|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.E205K|TNFRSF10B_uc003xct.2_Missense_Mutation_p.E278K NM_003842 NP_003833 O14763 TR10B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA. 307 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane TRAIL binding|caspase activator activity|receptor activity NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TGCTCTGACTCCCCGGGGGAC 0.562000 23 15 0 0 0.000308642 0 0 FBXO15 201456 broad.mit.edu 37 18 71749192 71749192 + Nonsense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr18:71749192C>T uc002llf.2 - 8 1313 c.1233G>A c.(1231-1233)tgG>tgA p.W411* FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Nonsense_Mutation_p.W335* NM_001142958 NP_689889 Q8NCQ5 FBX15_HUMAN Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA. 335 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TATCAGTTTTCCACGAGAGGC 0.294000 16 17 0 0 7.07596e-05 0 0 UNC13D 201294 broad.mit.edu 37 17 73824968 73824968 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:73824968C>T uc002jpp.3 - 30 3431 c.3051G>A c.(3049-3051)gaG>gaA p.E1017E NM_199242 NP_954712 Q70J99 UN13D_HUMAN Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA. 1017 C2 2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GCAGGAAGGCCTCGCCTTCCA 0.706000 Familial Hemophagocytic Lymphohistiocytosis 8 7 0 0 0.000157383 0 0 COX10 1352 broad.mit.edu 37 17 14110342 14110342 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:14110342C>T uc002gof.4 + 6 1348 c.1144C>T c.(1144-1146)Ccc>Tcc p.P382S COX10_uc010vvs.2_Missense_Mutation_p.P165S|COX10_uc010vvt.2_Missense_Mutation_p.P190S NM_001303 NP_001294 Q12887 COX10_HUMAN Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA. 382 heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) ATGGACCTTCCCCATCATGGC 0.657000 37 39 0 0 0.000191422 0 0 DNAH3 55567 broad.mit.edu 37 16 20952783 20952783 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr16:20952783G>A uc010vbe.2 - 58 11594 c.11594C>T c.(11593-11595)cCc>cTc p.P3865L DNAH3_uc010vbd.2_Missense_Mutation_p.P1300L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3865 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATAGACCACGGGGTACAACTT 0.483000 103 96 0 0 0.000147903 0 0 APBA2 321 broad.mit.edu 37 15 29346627 29346627 + Silent SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr15:29346627G>A uc001zck.3 + 2 744 c.540G>A c.(538-540)caG>caA p.Q180Q APBA2_uc010azj.2_Silent_p.Q180Q|APBA2_uc010uat.2_Silent_p.Q180Q|APBA2_uc001zcl.3_Silent_p.Q180Q|APBA2_uc010uas.1_Silent_p.Q180Q NM_005503 NP_005494 Q99767 APBA2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA. 180 DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CCCATGACCAGGAAGAAGATG 0.652000 17 12 0 0 0.00010058 0 0 SLIT3 6586 broad.mit.edu 37 5 168199840 168199840 + Nonsense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:168199840G>A uc010jjg.3 - 13 1825 c.1405C>T c.(1405-1407)Cga>Tga p.R469* SLIT3_uc003mab.3_Nonsense_Mutation_p.R469*|SLIT3_uc010jji.2_Nonsense_Mutation_p.R469*|SLIT3_uc003mac.1_Nonsense_Mutation_p.R266* NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 469 LRRCT 2. 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 p.R469*(2) 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) TTGGCGAGTCGGCGCGGGCTG 0.602000 24 28 0 0 0.000117367 0 0 OR8I2 120586 broad.mit.edu 37 11 55861122 55861122 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:55861122C>T uc010rix.2 + 0 339 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA. 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GTGAGTGTTTCCTTCTGGGAT 0.428000 26 16 0 0 0.000308642 0 0 SLC6A11 6538 broad.mit.edu 37 3 10970933 10970933 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:10970933C>T uc003bvz.3 + 9 1313 c.1279C>T c.(1279-1281)Ccc>Tcc p.P427S NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 427 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GGACATGTACCCCAAGGTTTT 0.547000 83 57 0 0 0.000147903 0 0 MFSD2A 84879 broad.mit.edu 37 1 40431577 40431577 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:40431577G>A uc001cev.3 + 5 825 c.644G>A c.(643-645)gGa>gAa p.G215E MFSD2A_uc010ojb.1_Missense_Mutation_p.G165E|MFSD2A_uc001ceu.3_Missense_Mutation_p.G202E|MFSD2A_uc010ojc.2_Missense_Mutation_p.G46E|MFSD2A_uc009vvy.3_Non-coding_Transcript NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA. 215 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GCGATCCAGGGACAAATCGTG 0.562000 10 23 0 0 0.000117367 0 0 CPAMD8 27151 broad.mit.edu 37 19 17100547 17100547 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr19:17100547C>T uc002nfb.3 - 12 1474 c.1442G>A c.(1441-1443)gGg>gAg p.G481E NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 434 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTACTGAGCCCCCACAGGCTT 0.602000 16 9 0 0 0.000442599 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481278 142481278 + Missense_Mutation SNP G A A rs143782230 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:142481278G>A uc011ksq.2 + 2 435 c.352G>A c.(352-354)Gtc>Atc p.V118I TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. p.V118F(1) CACACCTGCCGTCATCAATGC 0.542000 49 9 0 0 0.000219431 0 0 F8 2157 broad.mit.edu 37 X 154225248 154225249 + Splice_Site DNP CC AA AA rs137852387 TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:154225248_154225249CC>AA uc004fmt.3 - 3 559 c.388_splice c.e3+1 p.G130_splice F8_uc011mzx.1_Splice_Site_p.G95_splice NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 130 F5/8 type A 1.|Plastocyanin-like 1. G -> R (in HEMA; severe). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTTTACTCACCCTCAGAAGCTT 0.421000 138 8 0 0 6.4e-05 0 0 ABHD1 84696 broad.mit.edu 37 2 27351972 27351972 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:27351972C>T uc002rit.3 + 2 595 c.435C>T c.(433-435)aaC>aaT p.N145N ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Non-coding_Transcript NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA. 145 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTAGTTAACCAAGCTCTGA 0.537000 5 23 0 0 0.000586117 0 0 PCLO 27445 broad.mit.edu 37 7 82584475 82584475 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:82584475G>A uc003uhx.2 - 4 6083 c.5794C>T c.(5794-5796)Cca>Tca p.P1932S PCLO_uc003uhv.2_Missense_Mutation_p.P1932S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1863 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTGCAGCTGGAAAAGCTTTG 0.358000 38 36 0 0 0.000491102 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885348 88885348 + Silent SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:88885348G>A uc003ydz.3 - 0 949 c.852C>T c.(850-852)ttC>ttT p.F284F NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 284 p.F284F(2) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ATGACACCAGGAATTGGCCAT 0.498000 28 27 0 0 0.000147802 0 0 RBM5 10181 broad.mit.edu 37 3 50131285 50131285 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:50131285C>T uc003cyg.3 + 3 491 c.316C>T c.(316-318)Ccc>Tcc p.P106S RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript|RBM5_uc003cyf.3_Missense_Mutation_p.P106S|RBM5_uc011bdj.2_Missense_Mutation_p.P50S|RBM5_uc011bdk.2_5'UTR NM_005778 NP_005769 P52756 RBM5_HUMAN Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA. 106 RRM 1. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCGCGGCCTTCCCATCACCAT 0.483000 66 45 0 0 0.000147903 0 0 SNTG2 54221 broad.mit.edu 37 2 1241704 1241704 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:1241704G>A uc002qwq.3 + 9 893 c.764G>A c.(763-765)gGg>gAg p.G255E SNTG2_uc010ewi.3_Missense_Mutation_p.G128E NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 255 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GTCAGCTCTGGGATCCTCCGG 0.652000 2 9 0 0 3.86212e-05 0 0 IGFL1 374918 broad.mit.edu 37 19 46733596 46733596 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr19:46733596G>A uc002pee.3 + 2 168 c.145G>A c.(145-147)Gac>Aac p.D49N NM_198541 NP_940943 Q6UW32 IGFL1_HUMAN Homo sapiens IGF-like family member 1 (IGFL1), mRNA. 49 extracellular space protein binding lung(5) 5 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201) CAAGTTCTACGACCCCCTGCA 0.572000 60 50 0 0 0.000147903 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64766968 64766968 + Splice_Site SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:64766968C>T uc003jtp.3 - 3 912 c.98_splice c.e3-1 p.E33_splice ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 33 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TCAGGAATTCCTCTTTGTAAT 0.338000 24 25 0 0 9.22233e-05 0 0 PTEN 5728 broad.mit.edu 37 10 89692904 89692904 + Nonsense_Mutation SNP C T T rs121913292 TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr10:89692904C>T uc001kfb.3 + 4 1420 c.388C>T c.(388-390)Cga>Tga p.R130* PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 130 Phosphatase tensin-type. R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGGAAAGGGACGAACTGGTGT 0.403000 R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 13 38 0 0 0.000319135 0 0 AGXT2 64902 broad.mit.edu 37 5 35035412 35035412 + Silent SNP A G G TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:35035412A>G uc003jjf.3 - 4 739 c.496T>C c.(496-498)Ttg>Ctg p.L166L AGXT2_uc011com.2_Silent_p.L166L|AGXT2_uc011con.2_Silent_p.L74L NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA. 166 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CTGTTCACCAAGAAAATGACC 0.468000 115 71 0 0 0.000147903 0 0 BCL11A 53335 broad.mit.edu 37 2 60688288 60688288 + Missense_Mutation SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:60688288C>T uc002sae.1 - 3 1987 c.1759G>A c.(1759-1761)Gaa>Aaa p.E587K BCL11A_uc002sab.3_Missense_Mutation_p.E587K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E256K|BCL11A_uc010ypj.2_Missense_Mutation_p.E553K|BCL11A_uc002sad.1_Missense_Mutation_p.E435K|BCL11A_uc002saf.1_Missense_Mutation_p.E553K NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 587 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ACCGAGTCTTCGTCGCAAGTG 0.672000 T IGH@ B-CLL 24 80 0 0 0.000147903 0 0 NDFIP1 80762 broad.mit.edu 37 5 141515366 141515366 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:141515366C>T uc003lmi.4 + 3 570 c.354C>T c.(352-354)ttC>ttT p.F118F NDFIP1_uc003lmj.1_Intron NM_030571 NP_085048 Q9BT67 NFIP1_HUMAN Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA. 118 cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination Golgi membrane|endosome membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm signal transducer activity large_intestine(3)|lung(1)|ovary(1) 5 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGGATTTTCATGTTAACTT 0.353000 62 45 0 0 0.000147903 0 0 MYOM1 8736 broad.mit.edu 37 18 3188758 3188758 + Silent SNP G C C TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr18:3188758G>C uc002klp.3 - 3 1093 c.759C>G c.(757-759)tcC>tcG p.S253S MYOM1_uc002klq.3_Silent_p.S253S NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 253 striated muscle myosin thick filament structural constituent of muscle 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 TTTTCCTCAGGGACAGGCGTT 0.423000 10 11 0 0 3.86212e-05 0 0 AACS 65985 broad.mit.edu 37 12 125626733 125626733 + Silent SNP C T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:125626733C>T uc001uhc.3 + 17 2183 c.1977C>T c.(1975-1977)acC>acT p.T659T AACS_uc001uhd.3_Missense_Mutation_p.P592S|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.T257T NM_023928 NP_076417 Q86V21 AACS_HUMAN Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA. 659 fatty acid metabolic process cytosol ATP binding|acetoacetate-CoA ligase activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ACCCCGAGACCCTGGATCTGT 0.567000 11 19 0 0 0.000132079 0 0 EFNB3 1949 broad.mit.edu 37 17 7612773 7612773 + Missense_Mutation SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:7612773G>A uc002gis.3 + 4 1299 c.902G>A c.(901-903)gGg>gAg p.G301E NM_001406 NP_001397 Q15768 EFNB3_HUMAN Homo sapiens ephrin-B3 (EFNB3), mRNA. 301 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) CGGGGTGGCGGGGCTGCAGAT 0.662000 20 21 0 0 0.000375601 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962063 10962063 + Silent SNP G A A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:10962063G>A uc001qyx.3 - 0 705 c.612C>T c.(610-612)tcC>tcT p.S204S TAS2R8_uc010shh.2_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA. 204 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GTCTAACTAGGGAGAAAAGTA 0.458000 9 11 0 0 6.40141e-05 0 0 C11orf84 144097 broad.mit.edu 37 11 63586326 63586327 + Nonsense_Mutation DNP CC TT TT TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:63586326_63586327CC>TT uc001nxt.3 + 4 1022_1023 c.786_787CC>TT c.(784-789)gtccga>gtTTga p.R263* NM_138471 NP_612480 Q9BUA3 CK084_HUMAN Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA. 263 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 CAGCCGAGGTCCGACACTTCAC 0.624000 45 23 0 0 6.4e-05 0 0 OR4K5 79317 broad.mit.edu 37 14 20389211 20389211 + Missense_Mutation SNP G T T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr14:20389211G>T uc010tkw.2 + 0 446 c.446G>T c.(445-447)tGg>tTg p.W149L NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGATCTCCTGGGCTGTGAGC 0.438000 58 50 2.27781e-18 6.2549e-17 0.000147903 1 0 CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT - - TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:53529193_53529195delGAT uc003dgv.4 + 0 CACNA1D_uc003dgu.4_Start_Codon_Del|CACNA1D_uc003dgy.4_Start_Codon_Del NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 --- 82 --- --- 7 --- FREM2 341640 broad.mit.edu 37 13 39261568 39261570 + In_Frame_Del DEL GCT - - TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr13:39261568_39261570delGCT uc001uwv.3 + 0 396_398 c.87_89delGCT c.(85-90)cggctg>cgg p.L38del NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 38 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CGCCGCCCCGgctgctgctgctg 0.695 --- 4 --- --- 2 ---