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 DSCAM 1826 broad.mit.edu 37 21 41711101 41711101 + Silent SNP G G A TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr21:41711101G>A ENST00000400454.1 - 7 1929 c.1452C>T c.(1450-1452)tgC>tgT p.C484C NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 484 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGTTGGCAGTGCAGCGGTAGA 0.547000 22 44 0 0 1 0 0 MRPL41 64975 broad.mit.edu 37 9 140446894 140446894 + Missense_Mutation SNP C C T TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr9:140446894C>T ENST00000371443.5 + 2 1149 c.361C>T c.(361-363)Ccc>Tcc p.P121S NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 121 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) CGGCTTCGAGCCCACACAGGA 0.602000 10 26 0 0 1 0 0 KAT2A 2648 broad.mit.edu 37 17 40269530 40269530 + Missense_Mutation SNP C C T TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr17:40269530C>T ENST00000225916.5 - 10 1566 c.1513G>A c.(1513-1515)Ggc>Agc p.G505S NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 505 N-acetyltransferase. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 AGTGAGTTGCCGATGACATGG 0.637000 21 29 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871076 170871076 + Silent SNP G G A TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr6:170871076G>A ENST00000392092.2 + 3 531 c.252G>A c.(250-252)caG>caA p.Q84Q TBP_ENST00000540980.1_Silent_p.Q64Q|TBP_ENST00000230354.6_Silent_p.Q84Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 84 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q84Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.602000 4 58 0 0 1 0 0 GATA5 140628 broad.mit.edu 37 20 61039965 61039965 + Missense_Mutation SNP G G A TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr20:61039965G>A ENST00000252997.2 - 7 1182 c.1121C>T c.(1120-1122)aCg>aTg p.T374M NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 374 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) GCTTGGGGCCGTGGAGGGGAA 0.677000 3 31 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41979174 41979174 + Silent SNP G G A rs141816288 TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr1:41979174G>A ENST00000372584.1 - 7 6732 c.5718C>T c.(5716-5718)ccC>ccT p.P1906P HIVEP3_ENST00000247584.5_Silent_p.P1906P|HIVEP3_ENST00000372583.1_Silent_p.P1906P|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.P1906P NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1906 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGCCAGAGGCGGGGGCATCTG 0.692000 8 7 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 7 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 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 25 50 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 4 58 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 7 55 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 6 167 0 0 1 0 0 CNN2 1265 broad.mit.edu 37 19 1037875 1037875 + Nonsense_Mutation SNP C C G TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr19:1037875C>G ENST00000263097.4 + 7 1269 c.906C>G c.(904-906)taC>taG p.Y302* CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Nonsense_Mutation_p.Y263*|CNN2_ENST00000565096.2_Nonsense_Mutation_p.Y291*|CNN2_ENST00000562958.2_Nonsense_Mutation_p.Y323* NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 302 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) ATCCCCCTTACTACCAGGAGG 0.602000 27 62 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33291666 33291666 + Silent SNP A A G TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr14:33291666A>G ENST00000280979.4 + 13 4817 c.4647A>G c.(4645-4647)acA>acG p.T1549T AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1549 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TAGAAAAGACATTCACTGGCA 0.413000 8 123 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760593 92760596 + Frame_Shift_Del DEL TCTT TCTT - TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr7:92760593_92760596delTCTT ENST00000318238.4 - 5 5905_5908 c.4689_4692delAAGA c.(4687-4692)gafs p.ER1563fs SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.ER1563fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.ER1563fs NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1563 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGAAAGACACTCTTTCTATGTTCC 0.343 20 31 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 3 6 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129902204 129902205 + Frame_Shift_Del DEL TG TG - TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr10:129902204_129902205delTG ENST00000368654.3 - 13 8274_8275 c.7899_7900delCA c.(7897-7902)caaafs p.HK2633fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2633 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCTGGTTCTTTGTGTGTGTGTG 0.500 7 133 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407165 89407165 + RNA DEL T T - rs112016970 TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr11:89407165delT ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CATCAATGACTTTTTTTTTTT 0.303 5 7 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72827620 72827621 + Frame_Shift_Ins INS - - T TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr16:72827620_72827621insT ENST00000268489.5 - 9 9632_9633 c.8960_8961insA c.(8959-8961)aagfs p.K2987fs ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.K2073fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2987 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAACGACTCTCTTTGGCAGTCC 0.465 44 90 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 5 10 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343746 15343749 + RNA DEL TCTG TCTG - TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr21:15343746_15343749delTCTG ENST00000344693.5 - 0 736 NR_027270.1 CTCTGTGCTTTCTGATGTGCTGCT 0.407 3 4 --- --- --- ---