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 MTMR4 9110 broad.mit.edu 37 17 56572506 56572506 + Silent SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr17:56572506G>A uc002iwj.2 - 15 3107 c.2997C>T c.(2995-2997)aaC>aaT p.N999N NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 999 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAGAAGGGCAGTTCAGTGGAA 0.507000 5 259 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227935556 227935556 + Missense_Mutation SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr1:227935556G>A uc001hrf.2 + 1 668 c.254G>A c.(253-255)aGc>aAc p.S85N SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.S85N|SNAP47_uc001hre.3_Intron NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA. 85 DST -> TRP (in Ref. 5; AAH01332). endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 ATGACTGACAGCACTGGAGAG 0.527000 3 37 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46658465 46658465 + Nonsense_Mutation SNP C C A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr6:46658465C>A uc003oyj.3 + 0 2854 c.2600C>A c.(2599-2601)tCa>tAa p.S867* TDRD6_uc010jze.3_Nonsense_Mutation_p.S867* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 867 Tudor 4. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AATATTTATTCAATTAGTGAA 0.368000 4 94 0 0 1 0 0 FUNDC2 65991 broad.mit.edu 37 X 154282927 154282927 + Silent SNP C C T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chrX:154282927C>T uc004fmw.3 + 4 700 c.550C>T c.(550-552)Ctg>Ttg p.L184L NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA. 184 mitochondrion p.L184V(2)|p.L184L(1) breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGAGGCTTTCTGCTTGGCAT 0.448000 11 253 0 0 1 0 0 MRPL46 26589 broad.mit.edu 37 15 89010506 89010506 + Missense_Mutation SNP C C A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr15:89010506C>A uc002bmj.2 - 0 128 c.103G>T c.(103-105)Gca>Tca p.A35S MRPL46_uc002bmi.1_5'Flank|MRPS11_uc002bmm.3_5'Flank|MRPS11_uc002bmn.3_5'Flank|MRPS11_uc010bnj.3_5'Flank|MRPS11_uc002bml.3_5'Flank NM_022163 NP_071446 Q9H2W6 RM46_HUMAN Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA. 35 mitochondrion|ribosome hydrolase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) GGTGCGGCTGCAAGAGCCAGG 0.677000 3 15 0 0 1 0 0 CEP95 90799 broad.mit.edu 37 17 62512852 62512852 + Nonsense_Mutation SNP C C T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr17:62512852C>T uc002jem.3 + 4 437 c.379C>T c.(379-381)Cag>Tag p.Q127* CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_Intron NM_138363 NP_612372 Q96GE4 CEP95_HUMAN Homo sapiens centrosomal protein 95kDa (CEP95), mRNA. 127 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 TGAAACTGAACAGTATTTTAA 0.368000 13 29 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20402610 20402610 + Silent SNP C C T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr6:20402610C>T uc003nda.2 + 0 474 c.147C>T c.(145-147)gcC>gcT p.A49A E2F3_uc003ncz.2_Silent_p.A49A|E2F3_uc021ymj.1_5'Flank NM_001949 NP_001940 O00716 E2F3_HUMAN Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA. 49 Poly-Ala. G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) ccgccgccgccgctgccgccg 0.741000 3 48 0 0 1 0 0 PLP1 5354 broad.mit.edu 37 X 103042754 103042754 + Missense_Mutation SNP G G A rs11543023 TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chrX:103042754G>A uc010nov.3 + 4 761 c.481G>A c.(481-483)Gtt>Att p.V161I RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.V161I|PLP1_uc004elj.3_Missense_Mutation_p.V126I|PLP1_uc011msf.2_Missense_Mutation_p.V106I|PLP1_uc010nox.3_Missense_Mutation_p.V115I NM_001128834 NP_001122306 P60201 MYPR_HUMAN Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA. 161 Missing (in HLD1). cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 TGCCCTGACCGTTGTGTGGCT 0.507000 5 230 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7736520 7736520 + Missense_Mutation SNP C C A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr17:7736520C>A uc002giu.1 + 83 13124 c.13110C>A c.(13108-13110)agC>agA p.S4370R NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 4370 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGCAGAGAGCCGCAAGAAGA 0.622000 6 49 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126226844 126226844 + Missense_Mutation SNP C C T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr3:126226844C>T uc010hsi.2 - 4 560 c.506G>A c.(505-507)cGc>cAc p.R169H UROC1_uc003eiz.2_Missense_Mutation_p.R169H NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 169 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TGGGGCACTGCGGCTGCTGGG 0.597000 13 153 0 0 1 0 0 ZNF446 55663 broad.mit.edu 37 19 58992084 58992084 + Silent SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr19:58992084G>A uc002qsz.3 + 6 1461 c.1344G>A c.(1342-1344)gaG>gaA p.E448E ZNF446_uc002qta.3_3'UTR|ZNF446_uc010eur.3_3'UTR|SLC27A5_uc002qtb.3_Non-coding_Transcript NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN Homo sapiens zinc finger protein 446 (ZNF446), mRNA. 448 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) ACCGGCCGGAGGTTCCATGAG 0.657000 4 99 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a 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 31 60 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181735734 181735734 + Missense_Mutation SNP T T C TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr1:181735734T>C uc009wxt.3 + 34 5063 c.4868T>C c.(4867-4869)aTc>aCc p.I1623T CACNA1E_uc001gow.3_Missense_Mutation_p.I1623T|CACNA1E_uc009wxs.3_Missense_Mutation_p.I1604T|CACNA1E_uc001gox.1_Missense_Mutation_p.I849T NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1623 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATTTATGCCATCATTGGGATG 0.478000 10 9 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141245239 141245239 + Nonsense_Mutation SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr2:141245239G>A uc002tvj.1 - 57 10162 c.9190C>T c.(9190-9192)Cga>Tga p.R3064* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3064 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCATTGGGTCGGCTAGAATCG 0.313000 TSP Lung(27;0.18) 6 86 0 0 1 0 0 ANKRD42 338699 broad.mit.edu 37 11 82935987 82935987 + Missense_Mutation SNP A A G TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr11:82935987A>G uc010rsv.1 + 5 1099 c.677A>G c.(676-678)aAt>aGt p.N226S ANKRD42_uc001ozz.1_Missense_Mutation_p.N198S|ANKRD42_uc001paa.3_Missense_Mutation_p.N226S|ANKRD42_uc001pab.1_Missense_Mutation_p.N225S Q8N9B4 ANR42_HUMAN Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA. 198 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 AAAGCTTTCAATGATAATGGA 0.423000 48 74 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158141175 158141175 + Missense_Mutation SNP T T C TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr5:158141175T>C uc011ddx.2 - 11 1446 c.1144A>G c.(1144-1146)Agg>Ggg p.R382G EBF1_uc011ddw.2_Missense_Mutation_p.R249G|EBF1_uc010jip.3_Missense_Mutation_p.R381G|EBF1_uc003lxl.4_Missense_Mutation_p.R350G NM_024007 NP_076870 Q9UH73 COE1_HUMAN Homo sapiens early B-cell factor 1 (EBF1), mRNA. 381 multicellular organismal development nucleus DNA binding|metal ion binding p.R381M(1) HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCGCAGCCCTTTTGAGTATT 0.478000 T HMGA2 lipoma 4 256 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7283195 7283195 + Missense_Mutation SNP A A G TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr7:7283195A>G uc003srb.2 + 3 1152 c.929A>G c.(928-930)tAt>tGt p.Y310C C1GALT1_uc003sra.3_Missense_Mutation_p.Y310C NM_020156 NP_064541 Q9NS00 C1GLT_HUMAN Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA. 310 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TCTTTTCACTATGTTGATTCT 0.353000 5 160 0 0 1 0 0 LOC100125556 100125556 broad.mit.edu 37 3 125647418 125647418 + RNA SNP A A T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr3:125647418A>T uc003eid.4 + 4 c.494A>T LOC100125556_uc003eif.4_Non-coding_Transcript Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA. GGAGATGGCAATGCTGAACCT 0.483000 4 242 0 0 1 0 0 BRIX1 55299 broad.mit.edu 37 5 34922857 34922857 + Missense_Mutation SNP T T C TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr5:34922857T>C uc003jja.3 + 5 518 c.494T>C c.(493-495)cTt>cCt p.L165P BRIX1_uc011col.1_Missense_Mutation_p.L165P NM_018321 NP_060791 Q8TDN6 BRX1_HUMAN Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA. 165 Brix. ribosome biogenesis|translation nucleolus ATP binding|aminoacyl-tRNA ligase activity|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 TCTCGGCCCCTTTTGTCTTTT 0.343000 3 160 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38791143 38791143 + Silent SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr15:38791143G>A uc001zke.4 - 14 1903 c.1725C>T c.(1723-1725)tgC>tgT p.C575C RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Silent_p.C402C|RASGRP1_uc010bbg.3_Intron|RASGRP1_uc001zkd.4_Silent_p.C540C NM_005739 NP_005730 O95267 GRP1_HUMAN Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA. 575 Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) AGTTCATCCCGCAGTCTGTGG 0.468000 5 387 0 0 1 0 0