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 FFAR2 2867 broad.mit.edu 37 19 35940863 35940863 + Missense_Mutation SNP G G A TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr19:35940863G>A ENST00000599180.1 + 2 327 c.247G>A c.(247-249)Gcc>Acc p.A83T FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.A83T O15552 FFAR2_HUMAN free fatty acid receptor 2 83 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGTCGTCTGCGCCCTCACGAG 0.627000 4 26 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140481402 140481402 + Missense_Mutation SNP C C G rs121913358 TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr7:140481402C>G ENST00000288602.6 - 11 1466 c.1406G>C c.(1405-1407)gGa>gCa p.G469A NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 469 Protein kinase. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). 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.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5) 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) GTAGACTGTTCCAAATGATCC 0.373000 G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG) 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 70 45 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 3 20 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22893373 22893373 + Missense_Mutation SNP G G A TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr22:22893373G>A ENST00000543184.1 - 3 1022 c.160C>T c.(160-162)Ccg>Tcg p.P54S PRAME_ENST00000398741.1_Missense_Mutation_p.P54S|PRAME_ENST00000398743.2_Missense_Mutation_p.P54S|PRAME_ENST00000539862.1_Missense_Mutation_p.P38S|PRAME_ENST00000406503.1_Missense_Mutation_p.P54S|PRAME_ENST00000405655.3_Missense_Mutation_p.P54S|PRAME_ENST00000402697.1_Missense_Mutation_p.P54S|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000424204.2_Missense_Mutation_p.P38S NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 54 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) AAGAGTGGCGGGAAGAGCTCC 0.637000 3 39 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7948675 7948675 + Silent SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr17:7948675C>T ENST00000380183.4 + 7 1108 c.969C>T c.(967-969)tgC>tgT p.C323C ALOX15B_ENST00000380173.2_Silent_p.C323C|ALOX15B_ENST00000573359.1_Silent_p.C323C|ALOX15B_ENST00000572022.1_Silent_p.C323C NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 323 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 GCCCAGGCTGCGGGCCGCTGC 0.592000 14 28 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196737103 196737103 + Missense_Mutation SNP C C G TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr2:196737103C>G ENST00000312428.6 - 40 6604 c.6504G>C c.(6502-6504)ttG>ttC p.L2168F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2168 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTGGAGTAGGCAAGAGATTCT 0.368000 8 106 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 22 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34985327 34985327 + Silent SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr10:34985327C>T ENST00000374789.3 - 2 466 c.141G>A c.(139-141)caG>caA p.Q47Q PARD3_ENST00000346874.4_Silent_p.Q47Q|PARD3_ENST00000350537.4_Silent_p.Q47Q|PARD3_ENST00000374773.1_Silent_p.Q47Q|PARD3_ENST00000374776.1_Silent_p.Q47Q|PARD3_ENST00000545693.1_Silent_p.Q47Q|PARD3_ENST00000545260.1_Silent_p.Q47Q|PARD3_ENST00000374794.3_Silent_p.Q47Q|PARD3_ENST00000374788.3_Silent_p.Q47Q|PARD3_ENST00000340077.5_Silent_p.Q47Q|PARD3_ENST00000374790.3_Silent_p.Q47Q NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 47 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) AGCGATGCACCTGTATCCAGT 0.413000 4 105 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324952 79324952 + Missense_Mutation SNP C C G TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr9:79324952C>G ENST00000428286.1 - 8 2361 c.1161G>C c.(1159-1161)gaG>gaC p.E387D PRUNE2_ENST00000376718.3_Missense_Mutation_p.E746D Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 746 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AAGGTGACTTCTCCATGGGCA 0.498000 7 15 0 0 1 0 0 GNA11 2767 broad.mit.edu 37 19 3115013 3115013 + Missense_Mutation SNP G G A TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr19:3115013G>A ENST00000078429.4 + 4 790 c.548G>A c.(547-549)cGc>cAc p.R183H NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 183 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.R183H(1) endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) CTGCGGGTCCGCGTGCCCACC 0.672000 Mis uveal melanoma 7 111 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 83 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 376159 376159 + Missense_Mutation SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr11:376159C>T ENST00000329962.6 + 12 1181 c.1181C>T c.(1180-1182)cCg>cTg p.P394L NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 394 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGCGAGTCTCCGCTGTATCTG 0.672000 11 19 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922252 37922252 + Missense_Mutation SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr17:37922252C>T ENST00000346872.3 - 8 1382 c.1321G>A c.(1321-1323)Gtg>Atg p.V441M IKZF3_ENST00000377944.3_Missense_Mutation_p.V298M|IKZF3_ENST00000351680.3_Missense_Mutation_p.V402M|IKZF3_ENST00000583368.1_Missense_Mutation_p.V194M|IKZF3_ENST00000350532.3_Missense_Mutation_p.V402M|IKZF3_ENST00000377945.3_Missense_Mutation_p.V307M|IKZF3_ENST00000346243.3_Missense_Mutation_p.V363M|IKZF3_ENST00000535189.1_Missense_Mutation_p.V407M|IKZF3_ENST00000377958.2_Missense_Mutation_p.V354M|IKZF3_ENST00000439016.2_Missense_Mutation_p.V346M|IKZF3_ENST00000439167.2_Missense_Mutation_p.V368M|IKZF3_ENST00000394189.2_Missense_Mutation_p.V259M|IKZF3_ENST00000467757.1_Missense_Mutation_p.V385M|IKZF3_ENST00000377952.2_Missense_Mutation_p.V220M NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 441 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTGTTGATCACTTTGACGGAG 0.572000 8 94 0 0 1 0 0 TRMT1L 81627 broad.mit.edu 37 1 185108572 185108572 + Missense_Mutation SNP A A G TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr1:185108572A>G ENST00000367504.3 - 9 1520 c.781T>C c.(781-783)Tac>Cac p.Y261H TRMT1L_ENST00000367506.5_Missense_Mutation_p.Y417H Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 417 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 TTACATCCGTAGTGACGCCGG 0.428000 5 52 0 0 1 0 0 A3GALT2 127550 broad.mit.edu 37 1 33772766 33772766 + Frame_Shift_Del DEL A A - TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr1:33772766delA ENST00000442999.3 - 5 623 c.624delT c.(622-624)ttfs p.F208fs A3GALT2_ENST00000330379.5_Frame_Shift_Del_p.F153fs NM_001080438.1 NP_001073907.1 alpha 1,3-galactosyltransferase 2 Myeloproliferative disorder(586;0.0393) CCTCGGGCCCAAAAGTGCCGC 0.706 2 4 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 6 --- --- --- --- PCDH8 5100 broad.mit.edu 37 13 53421442 53421444 + In_Frame_Del DEL GCG GCG - TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr13:53421442_53421444delGCG ENST00000377942.3 - 1 1331_1333 c.1128_1130delCGC c.(1126-1131)gct>gc p.AA376del PCDH8_ENST00000338862.4_In_Frame_Del_p.AA376del NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 376 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCCGAGTGCAGCGGCGGCGGCGG 0.759 2 4 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 3 5 --- --- --- ---