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 KCMF1 56888 broad.mit.edu 37 2 85276643 85276643 + Silent SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr2:85276643C>T uc002sox.4 + 5 1100 c.756C>T c.(754-756)cgC>cgT p.R252R NM_020122 NP_064507 Q9P0J7 KCMF1_HUMAN Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA. 252 intracellular ligase activity|zinc ion binding ovary(3) 3 AGACCGCACGCAACGCAACCC 0.537000 8 40 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2027691 2027691 + Missense_Mutation SNP G G C TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr8:2027691G>C uc003wpx.4 + 12 1651 c.1513G>C c.(1513-1515)Gaa>Caa p.E505Q MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 505 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GGATGACCTTGAAGGTAAGTA 0.512000 6 230 0 0 1 0 0 ZNF141 7700 broad.mit.edu 37 4 366799 366799 + Silent SNP A A G TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr4:366799A>G uc003gaa.2 + 3 750 c.573A>G c.(571-573)gtA>gtG p.V191V ZNF141_uc003gab.3_Intron NM_003441 NP_003432 Q15928 ZN141_HUMAN Homo sapiens zinc finger protein 141 (ZNF141), mRNA. 191 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 AACATAAGGTAATTCATGCTG 0.343000 18 71 0 0 1 0 0 TAAR5 9038 broad.mit.edu 37 6 132910122 132910122 + Missense_Mutation SNP G G A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr6:132910122G>A uc003qdk.2 - 0 756 c.704C>T c.(703-705)aCa>aTa p.T235I NM_003967 NP_003958 O14804 TAAR5_HUMAN Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA. 235 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) TTTGCTCAATGTGGTAATCTG 0.502000 18 29 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78583811 78583811 + Missense_Mutation SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr12:78583811C>T uc001syp.3 + 33 6276 c.6103C>T c.(6103-6105)Cct>Tct p.P2035S NAV3_uc001syo.3_Missense_Mutation_p.P2013S|NAV3_uc010sub.2_Missense_Mutation_p.P1492S|NAV3_uc009zsf.3_Missense_Mutation_p.P844S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 2035 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TACGCTGATTCCTAAACCAAT 0.353000 HNSCC(70;0.22) 37 56 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72278108 72278108 + Missense_Mutation SNP T T A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr17:72278108T>A uc002jkf.3 + 1 262 c.152T>A c.(151-153)aTc>aAc p.I51N DNAI2_uc002jkg.3_Missense_Mutation_p.I51N|DNAI2_uc010dfp.3_Non-coding_Transcript NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA. 51 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GACACGGGCATCCAGTGCTCG 0.662000 Kartagener syndrome 27 53 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6261928 6261928 + Nonsense_Mutation SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr11:6261928C>T uc001mco.3 + 3 1019 c.904C>T c.(904-906)Cga>Tga p.R302* CNGA4_uc010raa.2_Nonsense_Mutation_p.R71*|CNGA4_uc001mcn.3_Nonsense_Mutation_p.R262* NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA. 302 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGGAGCGGCGAGTTATTGA 0.542000 14 40 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157521926 157521926 + Nonsense_Mutation SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr6:157521926C>T uc003qqn.3 + 17 4318 c.4318C>T c.(4318-4320)Cag>Tag p.Q1440* ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q1400*|ARID1B_uc003qqp.3_Nonsense_Mutation_p.Q1387* NM_020732 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA. 1387 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCAGCCAGCAGCAGGAGAT 0.592000 26 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179580380 179580380 + Missense_Mutation SNP C C G TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr2:179580380C>G uc021vsy.1 - 85 22254 c.22029G>C c.(22027-22029)gaG>gaC p.E7343D TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4004D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8270 Ig-like 55. 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) GAATTTCAGTCTCGTCCTTAT 0.408000 9 18 0 0 1 0 0 HTATIP2 10553 broad.mit.edu 37 11 20404724 20404724 + Silent SNP G G A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr11:20404724G>A uc001mpx.2 + 5 873 c.804G>A c.(802-804)ggG>ggA p.G268G HTATIP2_uc009yia.1_Silent_p.G234G|HTATIP2_uc009yib.1_Silent_p.G234G|HTATIP2_uc001mpz.2_Silent_p.G234G NM_001098520 NP_006401 Q9BUP3 HTAI2_HUMAN Homo sapiens HIV-1 Tat interactive protein 2, 30kDa (HTATIP2), transcript variant 1, mRNA. 234 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 ATGACCTGGGGAAAGCGCATG 0.473000 4 13 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31602045 31602045 + Missense_Mutation SNP C C A rs146122581 byFrequency TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr6:31602045C>A uc003nvb.4 + 18 5001 c.4752C>A c.(4750-4752)ttC>ttA p.F1584L PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.F1584L NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 1584 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GCTCTGGATTCTTGGGCTCTA 0.527000 8 489 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 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 15 38 0 0 1 0 0 RBM4B 83759 broad.mit.edu 37 11 66436191 66436191 + Missense_Mutation SNP T T A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr11:66436191T>A uc001oja.3 - 1 1653 c.984A>T c.(982-984)ttA>ttT p.L328F RBM4B_uc001ojb.3_Missense_Mutation_p.L328F NM_031492 NP_113680 Q9BQ04 RBM4B_HUMAN Homo sapiens RNA binding motif protein 4B (RBM4B), mRNA. 328 Interaction with TNPO3 (By similarity). RNA splicing|circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing nucleolus RNA binding|nucleotide binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 AAGCCTGAGATAATTCACTCT 0.552000 19 40 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90084066 90084066 + Missense_Mutation SNP A A G TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr5:90084066A>G uc003kju.3 + 67 13928 c.13832A>G c.(13831-13833)aAa>aGa p.K4611R GPR98_uc003kjt.3_Missense_Mutation_p.K2317R|GPR98_uc003kjw.3_Missense_Mutation_p.K272R NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4611 Calx-beta 31. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding 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) TTCATTATTAAACTTCATCTT 0.348000 19 29 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98087290 98087290 + Silent SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr10:98087290C>T uc001kmf.3 + 6 1110 c.940C>T c.(940-942)Ctg>Ttg p.L314L DNTT_uc001kmg.3_Silent_p.L314L NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 314 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) CGTCAGTGTGCTGGTTAAAGA 0.522000 4 209 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22816958 22816958 + Missense_Mutation SNP G G T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr1:22816958G>T uc001bft.2 + 2 1028 c.517G>T c.(517-519)Gct>Tct p.A173S ZBTB40_uc001bfu.2_Missense_Mutation_p.A173S|ZBTB40_uc009vqi.1_Missense_Mutation_p.A173S NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 173 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CCCTGTGAAAGCTGAGACTGA 0.542000 13 219 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77673090 77673090 + Silent SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr13:77673090C>T uc021rks.1 - 55 8466 c.8199G>A c.(8197-8199)gaG>gaA p.E2733E MYCBP2_uc010aev.3_Silent_p.E2099E|MYCBP2_uc001vkg.1_Silent_p.E218E|MYCBP2_uc010aew.3_Silent_p.E81E NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 2695 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TAGAGGACAGCTCTGATTTTC 0.413000 32 66 0 0 1 0 0 SAMD15 161394 broad.mit.edu 37 14 77844257 77844257 + Missense_Mutation SNP G G A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr14:77844257G>A uc001xtq.1 + 0 496 c.496G>A c.(496-498)Gaa>Aaa p.E166K TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.E166K NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA. 166 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCCACCAACGGAAACCATGTC 0.493000 35 82 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222123 140222123 + Missense_Mutation SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr5:140222123C>T uc003lhs.2 + 0 1217 c.1217C>T c.(1216-1218)tCg>tTg p.S406L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.S406L NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 420 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATTACTACTCGTTGGTGCTG 0.632000 71 146 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194931 28194933 + In_Frame_Del DEL TGT TGT - rs34890218 TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr22:28194931_28194933delTGT uc003adj.3 - 0 2554_2556 c.1599_1601delACA c.(1597-1602)caacag>cag p.533_534QQ>Q NM_002430 NP_002421 Q10571 MN1_HUMAN Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA. 533 Poly-Gln. binding p.Q550_R551insQ(1)|p.Q532Q(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 ctgctgctgctgttgctgctgct 0.650 T ETV6 """AML, meningioma""" 4 7 --- --- --- ---