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 PLXNA3 55558 broad.mit.edu 37 X 153698460 153698460 + Missense_Mutation SNP G G A TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chrX:153698460G>A ENST00000369682.3 + 29 5111 c.4936G>A c.(4936-4938)Ggc>Agc p.G1646S PLXNA3_ENST00000493546.1_3'UTR NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1646 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGGGACCGTGGCAGCAAGAT 0.627000 7 67 0 0 1 0 0 VCP 7415 broad.mit.edu 37 9 35061662 35061662 + Missense_Mutation SNP A A G TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr9:35061662A>G ENST00000358901.6 - 10 2001 c.1106T>C c.(1105-1107)aTt>aCt p.I369T NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 369 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGGAATTCCAATATCTACCTC 0.483000 17 128 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 60 0 0 1 0 0 ALX3 257 broad.mit.edu 37 1 110607406 110607406 + Missense_Mutation SNP G G A TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr1:110607406G>A ENST00000369792.4 - 2 484 c.397C>T c.(397-399)Cat>Tat p.H133Y NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 133 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) AGAGGAAGATGCAGGCTGGCC 0.632000 26 51 0 0 1 0 0 TSPAN32 10077 broad.mit.edu 37 11 2324041 2324041 + Translation_Start_Site SNP A A G rs2074022 by1000genomes TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr11:2324041A>G ENST00000451520.2 + 1 89 c.1A>G c.(1-3)Atg>Gtg p.M1V TSPAN32_ENST00000182290.4_Intron|TSPAN32_ENST00000483227.1_Intron|TSPAN32_ENST00000381121.3_Intron Q96QS1 TSN32_HUMAN tetraspanin 32 0 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CAGCAGTCCCATGCCCCACAC 0.642000 3 20 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90160948 90160948 + RNA SNP G G A rs8049119 by1000genomes TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr16:90160948G>A ENST00000564451.1 + 0 894 TUBB8P7_ENST00000567960.1_RNA TGGCAGGTACGTGCCTCGCGC 0.711000 3 32 0 0 1 0 0 LRRC37A11P 0 broad.mit.edu 37 17 37188240 37188240 + RNA SNP C C T rs34700711 by1000genomes TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr17:37188240C>T ENST00000425901.2 + 0 2082 NR_033753.2 ACAGTTCAACCTCTGGACCTG 0.512000 5 83 0 0 1 0 0 RNF157 114804 broad.mit.edu 37 17 74154479 74154479 + Missense_Mutation SNP C C T TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr17:74154479C>T ENST00000269391.6 - 13 1540 c.1408G>A c.(1408-1410)Gga>Aga p.G470R RNF157_ENST00000319945.6_Missense_Mutation_p.G470R NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 470 Ser-rich. zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) ATTACCTCTCCGAGATGCTGA 0.532000 5 103 0 0 1 0 0 LIMS1 3987 broad.mit.edu 37 2 109292399 109292399 + Missense_Mutation SNP A A G TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr2:109292399A>G ENST00000393310.1 + 6 727 c.560A>G c.(559-561)aAa>aGa p.K187R LIMS1_ENST00000544547.1_Missense_Mutation_p.K199R|LIMS1_ENST00000409441.1_Missense_Mutation_p.K224R|LIMS1_ENST00000542845.1_Missense_Mutation_p.K249R|LIMS1_ENST00000410093.1_Missense_Mutation_p.K191R|LIMS1_ENST00000332345.6_Missense_Mutation_p.K187R|LIMS1_ENST00000338045.3_Missense_Mutation_p.K187R NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 187 cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 TGCCATGATAAAATGGGGGTC 0.557000 4 47 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 5 63 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011624 160011624 + Missense_Mutation SNP C C G TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr1:160011624C>G ENST00000368089.3 - 2 925 c.699G>C c.(697-699)caG>caC p.Q233H KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 233 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCACATTGACCTGGTTGAGCC 0.502000 23 75 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119660702 119660702 + Missense_Mutation SNP G G T TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chrX:119660702G>T ENST00000371322.5 - 20 2663 c.2602C>A c.(2602-2604)Ctt>Att p.L868I CUL4B_ENST00000336592.6_Missense_Mutation_p.L873I|CUL4B_ENST00000404115.3_Missense_Mutation_p.L886I NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 886 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTCTTCTTAAGATCAGCAGGC 0.358000 4 61 0.00909568 0.0104432 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 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 21 60 0 0 1 0 0 LRRC37A11P 0 broad.mit.edu 37 17 37188177 37188177 + RNA SNP C C A TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr17:37188177C>A ENST00000425901.2 + 0 2019 NR_033753.2 CTTGAGGTGACACTTCCACCG 0.502000 8 100 0.307466 0.307466 1 1 0 ANKZF1 55139 broad.mit.edu 37 2 220097799 220097799 + Splice_Site SNP A A G TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr2:220097799A>G ENST00000323348.5 + 6 732 c.e6-1 ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTGTCATCAAGGATCCCCCA 0.468000 60 117 0 0 1 0 0 LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 2 4 --- --- --- --- NSUN3 63899 broad.mit.edu 37 3 93802955 93802956 + Frame_Shift_Del DEL AT AT - TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr3:93802955_93802956delAT ENST00000314622.4 + 3 338_339 c.127_128delAT c.(127-129)afs p.I43fs NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 43 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 TTCTAGGGAGATACTAACATCT 0.332 12 52 --- --- --- --- SNORA26 0 broad.mit.edu 37 9 89875500 89875500 + RNA DEL A A - rs142686931 TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr9:89875500delA ENST00000391119.1 + 0 136 GAGCCACAGCaaaaaaaaaaa 0.363 2 4 --- --- --- --- CCER1 196477 broad.mit.edu 37 12 91347581 91347582 + In_Frame_Ins INS - - TCT TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr12:91347581_91347582insTCT ENST00000358859.2 - 1 1371_1372 c.938_939insAGA c.(937-939)ggt>gAGAgt p.313_313G>ES CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 catcttcgacctcttcctcctc 0.535 29 67 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 3 --- --- --- --- ACTG1 71 broad.mit.edu 37 17 79478060 79478060 + Frame_Shift_Del DEL G G - rs143205514 byFrequency TCGA-EM-A4FF-01A-11D-A257-08 TCGA-EM-A4FF-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d646e7-56a5-4300-8262-fc3568731137 4189595e-d0f6-47bc-ab41-0ef3359201e1 g.chr17:79478060delG ENST00000575842.1 - 4 1303 c.877delC c.(877-879)tgfs p.L293fs ACTG1_ENST00000331925.2_Frame_Shift_Del_p.L293fs|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Frame_Shift_Del_p.L293fs|ACTG1_ENST00000573283.1_Frame_Shift_Del_p.L293fs P63261 ACTG_HUMAN actin, gamma 1 293 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TTGGCGTACAGGTCTTTGCGG 0.592 7 99 --- --- --- ---