Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TENM1 10178 broad.mit.edu 37 X 123637463 123637463 + Missense_Mutation SNP G G A TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chrX:123637463G>A ENST00000422452.2 - 19 3455 c.3392C>T c.(3391-3393)tCt>tTt p.S1131F TENM1_ENST00000371130.3_Missense_Mutation_p.S1131F NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCCTAGGTTAGAAGCATCCAT 0.378000 14 250 0 0 0.520397 0 0 PLEC 5339 broad.mit.edu 37 8 145009393 145009393 + Nonsense_Mutation SNP C C A TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr8:145009393C>A ENST00000322810.4 - 7 1271 c.1102G>T c.(1102-1104)Gga>Tga p.G368* PLEC_ENST00000345136.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.G258*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.G199*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.G209*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.G217*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.G258*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.G235* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 368 Actin-binding.|CH 2.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCGTCACTCCCAGGTCCCGC 0.657000 4 24 0.00909568 0.00938909 0.150653 1 0 TAS1R3 83756 broad.mit.edu 37 1 1269087 1269087 + Missense_Mutation SNP C C T TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr1:1269087C>T ENST00000339381.5 + 6 1834 c.1802C>T c.(1801-1803)gCc>gTc p.A601V NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 601 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CTGGTTCAGGCCTCGGGGGGG 0.692000 3 13 0 0 0.150653 0 0 NFIA 4774 broad.mit.edu 37 1 61743213 61743213 + Missense_Mutation SNP C C G TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr1:61743213C>G ENST00000403491.3 + 3 1065 c.581C>G c.(580-582)cCc>cGc p.P194R NFIA_ENST00000485903.2_Missense_Mutation_p.P194R|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371185.2_Intron|NFIA_ENST00000371187.3_Missense_Mutation_p.P194R|NFIA_ENST00000371189.4_Missense_Mutation_p.P239R|NFIA_ENST00000371191.1_Missense_Mutation_p.P217R|NFIA_ENST00000407417.3_Missense_Mutation_p.P186R|NFIA_ENST00000371184.2_Intron NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 194 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 TCTGAAAGTCCCAGCCAGCCA 0.458000 22 46 0 0 0.608945 0 0 C1orf213 0 broad.mit.edu 37 1 23696056 23696056 + Missense_Mutation SNP T T A TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr1:23696056T>A ENST00000335648.3 + 1 328 c.266T>A c.(265-267)cTg>cAg p.L89Q C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000437367.2_Intron kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) TATCGTAGGCTGATCCTAAAG 0.567000 13 35 0 0 0.435327 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 16 45 0 0 0.557998 0 0 SLFNL1 200172 broad.mit.edu 37 1 41486324 41486324 + Silent SNP G G C TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr1:41486324G>C ENST00000359345.1 - 1 2585 c.9C>G c.(7-9)ccC>ccG p.P3P SLFNL1_ENST00000302946.8_Silent_p.P3P|SLFNL1_ENST00000439569.2_Silent_p.P3P|SLFNL1_ENST00000397197.2_Silent_p.P3P|SLFNL1_ENST00000372611.1_Silent_p.P3P|SLFNL1_ENST00000372613.2_Silent_p.P3P NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 3 ATP binding endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) ATCTCTTCATGGGGGTCATGG 0.602000 4 30 0 0 0.150653 0 0 NLRP4 147945 broad.mit.edu 37 19 56363698 56363698 + Silent SNP C C T TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr19:56363698C>T ENST00000301295.6 + 2 674 c.252C>T c.(250-252)ctC>ctT p.L84L NLRP4_ENST00000346986.5_Silent_p.L84L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 84 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAAAGGATCTCTGCATGAAGG 0.443000 4 60 0 0 0.150653 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482113 152482113 + Missense_Mutation SNP C C T TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chrX:152482113C>T ENST00000356661.5 - 3 1116 c.898G>A c.(898-900)Gca>Aca p.A300T NM_004988.4 NP_004979.3 P43355 MAGA1_HUMAN melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 300 MAGE. cytoplasm|plasma membrane breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCAAAGCTGCTTCACGCAGG 0.577000 47 99 0 0 0.870114 0 0 SUMO3 6612 broad.mit.edu 37 21 46233863 46233863 + Missense_Mutation SNP G G C rs13050872 by1000genomes TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr21:46233863G>C ENST00000411651.2 - 2 290 c.178C>G c.(178-180)Ctc>Gtc p.L60V SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000397898.3_Intron P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 50 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) CACACGGGGAGGCTCTGCGGG 0.657000 4 40 0 0 0.150653 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 3 36 0 0 0.115264 0 0 DCX 1641 broad.mit.edu 37 X 110653418 110653418 + Missense_Mutation SNP T T C TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chrX:110653418T>C ENST00000338081.3 - 2 623 c.452A>G c.(451-453)tAc>tGc p.Y151C DCX_ENST00000356915.2_Missense_Mutation_p.Y70C|DCX_ENST00000356220.3_Missense_Mutation_p.Y70C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.Y70C|DCX_ENST00000371993.2_Missense_Mutation_p.Y70C NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 151 Doublecortin 1. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GGACACAGCGTACACAATCCC 0.527000 6 108 0 0 0.248553 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 22 0 0 0.115264 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46067139 46067139 + Missense_Mutation SNP C C T TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr21:46067139C>T ENST00000334670.8 + 1 809 c.764C>T c.(763-765)tCc>tTc p.S255F TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 249 keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CCCGTCTCCTCCTGCTGTGCC 0.701000 8 78 0 0 0.278610 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 3 22 0 0 0.115264 0 0 TMEM204 79652 broad.mit.edu 37 16 1591953 1591953 + Silent SNP G G A TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr16:1591953G>A ENST00000566264.1 + 2 1015 c.312G>A c.(310-312)ctG>ctA p.L104L TMEM204_ENST00000253934.5_Silent_p.L104L|IFT140_ENST00000426508.2_Intron NM_024600.5 NP_078876.2 Q9BSN7 TM204_HUMAN transmembrane protein 204 104 response to stress adherens junction|integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Hepatocellular(780;0.219) CCTGCAACCTGGTGGCCACGG 0.701000 3 35 0 0 0.115264 0 0 CGNL1 84952 broad.mit.edu 37 15 57730273 57730273 + Missense_Mutation SNP A A G TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr15:57730273A>G ENST00000281282.5 + 2 154 c.76A>G c.(76-78)Acc>Gcc p.T26A NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 26 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AAGTGATGATACCCAAAAATC 0.483000 12 169 0 0 0.387290 0 0 GPR98 84059 broad.mit.edu 37 5 90074772 90074772 + Missense_Mutation SNP G G A TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr5:90074772G>A ENST00000405460.2 + 64 13036 c.12940G>A c.(12940-12942)Gat>Aat p.D4314N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4314 Calx-beta 29. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGCAGGCTTGGATTTTGTTCC 0.493000 8 114 0 0 0.307466 0 0 GALT 2592 broad.mit.edu 37 9 34649475 34649475 + Missense_Mutation SNP C C T TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr9:34649475C>T ENST00000378842.3 + 10 1015 c.973C>T c.(973-975)Ccg>Tcg p.P325S GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.P216S|GALT_ENST00000488412.2_3'UTR NM_000155.3 NP_000146.2 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 325 P -> L (in GALCT). galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1) 16 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) TTACTACCCTCCGCTCCTGCG 0.577000 Galactosemia 5 108 0 0 0.217242 0 0 SLC25A43 203427 broad.mit.edu 37 X 118585975 118585975 + Nonsense_Mutation SNP C C T TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chrX:118585975C>T ENST00000217909.7 + 4 1038 c.694C>T c.(694-696)Cag>Tag p.Q232* SLC25A43_ENST00000336249.7_Missense_Mutation_p.S174L|SLC25A43_ENST00000488158.1_3'UTR NM_145305.2 NP_660348.2 Q8WUT9 S2543_HUMAN solute carrier family 25, member 43 232 transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 9 CTGTCAGGCTCAGAGCCCCTA 0.532000 8 69 0 0 0.307466 0 0 LIG4 3981 broad.mit.edu 37 13 108861705 108861705 + Missense_Mutation SNP T T C TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr13:108861705T>C ENST00000356922.4 - 2 2184 c.1912A>G c.(1912-1914)Att>Gtt p.I638V LIG4_ENST00000405925.1_Missense_Mutation_p.I638V|LIG4_ENST00000442234.1_Missense_Mutation_p.I638V NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 638 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ATAATTCCAATAACTTTCTTC 0.358000 Non-homologous end-joining 26 51 0 0 0.654019 0 0 GPR179 440435 broad.mit.edu 37 17 36487270 36487270 + Missense_Mutation SNP C C T TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr17:36487270C>T ENST00000342292.4 - 11 2202 c.2182G>A c.(2182-2184)Gag>Aag p.E728K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 728 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) GCCAGGGCCTCGGGGAATTCC 0.687000 3 25 0 0 0.115264 0 0 RP5-896L10.1 0 broad.mit.edu 37 1 99474093 99474094 + RNA INS - - A rs75027532 TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr1:99474093_99474094insA ENST00000425113.1 + 0 370 NR_033940.1 GAACAGCAACTAAAAAAAAAAA 0.356 3 5 --- --- --- --- HTRA4 203100 broad.mit.edu 37 8 38831929 38831929 + Frame_Shift_Del DEL C C - TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr8:38831929delC ENST00000302495.4 + 1 247 c.147delC c.(145-147)tgfs p.C49fs NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 49 IGFBP N-terminal. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) CCACGCGCTGCCCCGCGCTGC 0.746 2 4 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 4 8 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102737277 102737283 + RNA DEL TTTCCAT TTTCCAT - rs28381683 TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr11:102737277_102737283delTTTCCAT ENST00000532855.1 - 0 1007 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CCAATATTTCTTTCCATTGTCTTCACA 0.362 4 4 --- --- --- --- ZNF787 126208 broad.mit.edu 37 19 56599438 56599440 + In_Frame_Del DEL TCG TCG - rs72029508 TCGA-ET-A3DO-01A-11D-A19J-08 TCGA-ET-A3DO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a073cf43-6d9e-47a0-b693-fa8263f43bd5 5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc g.chr19:56599438_56599440delTCG ENST00000270459.3 - 3 1219_1221 c.1101_1103delCGA c.(1099-1104)gag>ga p.DE367del NM_001002836.2 NP_001002836.2 Q6DD87 ZN787_HUMAN zinc finger protein 787 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) GCCCGCGGCCTCGTCGTCGTCGT 0.778 3 5 --- --- --- ---