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 OR51M1 390059 broad.mit.edu 37 11 5410836 5410836 + Missense_Mutation SNP C C A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:5410836C>A ENST00000328611.3 + 1 230 c.208C>A c.(208-210)Ccc>Acc p.P70T AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 70 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGCACACACCCATGTACTA 0.468000 7 115 8.12818e-05 0.000259086 0.001984 1 0 UNC45A 55898 broad.mit.edu 37 15 91482981 91482981 + Silent SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr15:91482981G>A ENST00000394275.2 + 8 1237 c.402G>A c.(400-402)acG>acA p.T134T UNC45A_ENST00000418476.2_Silent_p.T149T|UNC45A_ENST00000553671.2_3'UTR NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 149 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding p.T149T(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGTCCTCGACGGATGCCAAAG 0.483000 27 29 0 0 0.012213 0 0 LPA 4018 broad.mit.edu 37 6 160999606 160999606 + Missense_Mutation SNP T T G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr6:160999606T>G ENST00000447678.1 - 28 4540 c.4420A>C c.(4420-4422)Aca>Cca p.T1474P LPA_ENST00000316300.5_Missense_Mutation_p.T1474P NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3982 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GTGGGAGTTGTGAGGACACTC 0.498000 6 109 0 0 0.003080 0 0 DOCK10 55619 broad.mit.edu 37 2 225630503 225630503 + Missense_Mutation SNP G G C TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr2:225630503G>C ENST00000409592.3 - 56 6591 c.6478C>G c.(6478-6480)Cga>Gga p.R2160G DOCK10_ENST00000258390.7_Missense_Mutation_p.R2166G Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 2166 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTAATTACTCGAGTGCAGGTT 0.502000 8 25 0 0 0.006214 0 0 TRGC2 6967 broad.mit.edu 37 7 38279515 38279515 + RNA SNP G G A rs150812430 by1000genomes TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr7:38279515G>A ENST00000436911.2 - 0 678 GTACACACATGAGAACTGAAA 0.433000 6 5 0 0 0.001984 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561096 32561096 + Silent SNP T T C TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr14:32561096T>C ENST00000345122.3 + 2 1536 c.1221T>C c.(1219-1221)acT>acC p.T407T ARHGAP5_ENST00000539826.2_Silent_p.T407T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.T407T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.T407T NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 407 FF 2. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TCCTGAGCACTTTAGAAGCTG 0.378000 24 86 0 0 0.004656 0 0 IGHD 3495 broad.mit.edu 37 14 106311905 106311905 + RNA SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr14:106311905G>A ENST00000390556.2 - 0 105 AGTCACGGACGTTGGGTGGTA 0.552000 17 32 0 0 0.004007 0 0 KDM1B 221656 broad.mit.edu 37 6 18218071 18218071 + Missense_Mutation SNP T T G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr6:18218071T>G ENST00000388870.2 + 21 2584 c.2343T>G c.(2341-2343)gaT>gaG p.D781E KDM1B_ENST00000546309.2_Missense_Mutation_p.D71E|KDM1B_ENST00000397244.1_Missense_Mutation_p.D549E|KDM1B_ENST00000297792.5_Missense_Mutation_p.D548E Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 780 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 AGGCCTACGATATCATTGCTG 0.438000 6 58 0 0 0.001168 0 0 GRIK5 2901 broad.mit.edu 37 19 42558472 42558472 + Splice_Site SNP C C T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr19:42558472C>T ENST00000262895.3 - 8 1055 c.1056_splice c.e8+1 p.M352_splice GRIK5_ENST00000301218.4_Splice_Site_p.M352_splice|GRIK5_ENST00000593562.1_Splice_Site_p.M352_splice NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 352 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) TCGGGCTCACCATGCGCAGGT 0.647000 18 45 0 0 0.008871 0 0 VSIG1 340547 broad.mit.edu 37 X 107310218 107310218 + Missense_Mutation SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chrX:107310218G>A ENST00000415430.3 + 4 535 c.374G>A c.(373-375)cGa>cAa p.R125Q VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Missense_Mutation_p.R89Q NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 89 Ig-like V-type 1. integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 TTTAAAGATCGAATTACAGGG 0.438000 8 95 0 0 0.003080 0 0 TRIM68 55128 broad.mit.edu 37 11 4623587 4623587 + Missense_Mutation SNP C C T rs150937700 byFrequency TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:4623587C>T ENST00000300747.5 - 4 867 c.578G>A c.(577-579)cGa>cAa p.R193Q NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 193 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CTCTAGTAATCGCTGGTATTT 0.517000 10 53 0 0 0.006214 0 0 FOXRED2 80020 broad.mit.edu 37 22 36902334 36902334 + Missense_Mutation SNP C C T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr22:36902334C>T ENST00000397224.4 - 2 229 c.136G>A c.(136-138)Gcc>Acc p.A46T FOXRED2_ENST00000216187.6_Missense_Mutation_p.A46T|FOXRED2_ENST00000397223.4_Missense_Mutation_p.A46T NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 46 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AGGAAGTAGGCCATCTGCAGG 0.736000 5 4 0 0 0.000602 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806758 6806758 + Missense_Mutation SNP A A G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:6806758A>G ENST00000307401.4 + 1 511 c.490A>G c.(490-492)Atg>Gtg p.M164V NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CGTGTATACCATGCACTATCC 0.532000 5 108 0 0 0.000602 0 0 FAM65C 140876 broad.mit.edu 37 20 49247380 49247380 + Missense_Mutation SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr20:49247380G>A ENST00000327979.2 - 2 416 c.5C>T c.(4-6)tCg>tTg p.S2L FAM65C_ENST00000045083.2_Missense_Mutation_p.S2L|FAM65C_ENST00000535356.1_Missense_Mutation_p.S6L Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 2 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAACCTCACCGACATGGTGGT 0.662000 4 18 0 0 0.000602 0 0 CSMD3 114788 broad.mit.edu 37 8 113402962 113402962 + Nonsense_Mutation SNP G G C TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr8:113402962G>C ENST00000297405.5 - 36 6109 c.5865C>G c.(5863-5865)taC>taG p.Y1955* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y1851*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y1915*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y1885* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1955 CUB 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAGGCTCAGGGTATCCAGGTG 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 34 0 0 0.004990 0 0 GRIK3 2899 broad.mit.edu 37 1 37346266 37346266 + Silent SNP C C G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr1:37346266C>G ENST00000373091.3 - 3 535 c.519G>C c.(517-519)cgG>cgC p.R173R GRIK3_ENST00000373093.4_Silent_p.R173R NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 173 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGGTGGCTGACCGCCACTTGA 0.622000 69 210 0 0 0.014410 0 0 ATXN2 6311 broad.mit.edu 37 12 111923133 111923133 + Silent SNP A A C TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr12:111923133A>C ENST00000377617.3 - 18 3101 c.2940T>G c.(2938-2940)ccT>ccG p.P980P ATXN2_ENST00000535949.1_Silent_p.P691P|ATXN2_ENST00000389153.4_Silent_p.P715P|ATXN2_ENST00000542287.2_Silent_p.P715P|ATXN2_ENST00000550104.1_Intron NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 980 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 TTGGGTATAAAGGCTTGAGAG 0.373000 46 96 0 0 0.014410 0 0 GRM5 2915 broad.mit.edu 37 11 88337977 88337977 + Missense_Mutation SNP G G A rs148343362 TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:88337977G>A ENST00000418177.2 - 5 1670 c.1303C>T c.(1303-1305)Cgg>Tgg p.R435W GRM5_ENST00000393297.1_Missense_Mutation_p.R435W|GRM5_ENST00000305447.4_Missense_Mutation_p.R435W|GRM5_ENST00000455756.2_Missense_Mutation_p.R435W|GRM5_ENST00000305432.5_Missense_Mutation_p.R435W P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 435 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R435W(3) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAAAGTTTCCGTCCATCAATT 0.483000 33 53 0 0 0.010818 0 0 CHD7 55636 broad.mit.edu 37 8 61766029 61766029 + Missense_Mutation SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr8:61766029G>A ENST00000423902.2 + 31 7224 c.6745G>A c.(6745-6747)Gat>Aat p.D2249N CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2249 Glu-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGAGGATGACGATAAGTCGGA 0.522000 5 53 0 0 0.000602 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42446614 42446614 + Missense_Mutation SNP G G A rs142310375 TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr15:42446614G>A ENST00000397272.3 - 3 318 c.227C>T c.(226-228)gCg>gTg p.A76V PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A76V NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 76 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCTTGGGGACGCCGTGGGCAG 0.592000 8 24 0 0 0.003080 0 0 CNTN5 53942 broad.mit.edu 37 11 99872788 99872788 + Silent SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:99872788G>A ENST00000524871.1 + 9 1190 c.900G>A c.(898-900)ccG>ccA p.P300P CNTN5_ENST00000418526.2_Silent_p.P226P|CNTN5_ENST00000527185.1_Silent_p.P300P|CNTN5_ENST00000528682.1_Silent_p.P300P|CNTN5_ENST00000279463.3_Silent_p.P300P NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 300 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AATATGAGCCGAAAATTGAGG 0.363000 7 24 0 0 0.006214 0 0 REL 5966 broad.mit.edu 37 2 61149129 61149129 + Missense_Mutation SNP C C T rs144119768 by1000genomes TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr2:61149129C>T ENST00000295025.7 + 11 1639 c.1319C>T c.(1318-1320)tCg>tTg p.S440L REL_ENST00000394479.3_Missense_Mutation_p.S408L NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog 440 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) CCTTCTAATTCGCAAGGTATC 0.458000 A Hodgkin Lymphoma 11 66 0 0 0.010729 0 0 XK 7504 broad.mit.edu 37 X 37553663 37553663 + Missense_Mutation SNP C C A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chrX:37553663C>A ENST00000378616.3 + 2 573 c.370C>A c.(370-372)Cag>Aag p.Q124K TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 124 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) GGAGGTGGGCCAGGCAGAAGG 0.537000 7 6 2.0095e-06 6.83229e-06 0.001984 1 0 TMEM63B 55362 broad.mit.edu 37 6 44102330 44102330 + Silent SNP C C G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr6:44102330C>G ENST00000259746.9 + 2 192 c.9C>G c.(7-9)ccC>ccG p.P3P TMEM63B_ENST00000323267.6_Silent_p.P3P Q5T3F8 TM63B_HUMAN transmembrane protein 63B 3 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CCATGCTGCCCTTTCTGCTGG 0.652000 10 21 0 0 0.006214 0 0 ARHGAP4 393 broad.mit.edu 37 X 153184369 153184369 + Missense_Mutation SNP C C A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chrX:153184369C>A ENST00000370028.3 - 8 1126 c.1069G>T c.(1069-1071)Gac>Tac p.D357Y ARHGAP4_ENST00000350060.5_Missense_Mutation_p.D317Y|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D296Y|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D294Y|ARHGAP4_ENST00000393721.1_Intron NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 317 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGGCTTTGTCCCCTGGAGGA 0.647000 6 71 0.00116845 0.00361156 0.001168 1 0 OR51T1 401665 broad.mit.edu 37 11 4903940 4903940 + Missense_Mutation SNP C C A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:4903940C>A ENST00000380378.1 + 1 892 c.892C>A c.(892-894)Cca>Aca p.P298T OR51T1_ENST00000322049.1_Missense_Mutation_p.P271T|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CCACTCCACCCCAAGGGTGCT 0.493000 9 136 2.17888e-05 7.16921e-05 0.006214 1 0 RPS6KA3 6197 broad.mit.edu 37 X 20181107 20181107 + Missense_Mutation SNP C C T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chrX:20181107C>T ENST00000379565.3 - 19 2023 c.1816G>A c.(1816-1818)Gtc>Atc p.V606I RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.V576I|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.V578I|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.V577I NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 606 Protein kinase 2. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 TAGAGTAGGACACCAAGACTC 0.338000 39 61 0 0 0.013114 0 0 ARPC2 10109 broad.mit.edu 37 2 219099087 219099087 + Missense_Mutation SNP G G T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr2:219099087G>T ENST00000295685.10 + 4 496 c.235G>T c.(235-237)Gtg>Ttg p.V79L ARPC2_ENST00000315717.5_Missense_Mutation_p.V79L NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa 79 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) ATTAAAGAGGGTGTACGGGAG 0.343000 12 77 3.27435e-08 1.15167e-07 0.002450 1 0 CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 5 10 --- --- --- --- SCN8A 6334 broad.mit.edu 37 12 52200312 52200313 + Frame_Shift_Ins INS - - T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr12:52200312_52200313insT ENST00000354534.5 + 27 5220_5221 c.5042_5043insT c.(5041-5043)gatfs p.D1681fs SCN8A_ENST00000545061.1_Frame_Shift_Ins_p.D1640fs NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1681 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CACGAGGCTGGTATCGATGACA 0.485 29 88 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 4 4 --- --- --- --- BTBD3 22903 broad.mit.edu 37 20 11899098 11899100 + In_Frame_Del DEL AAG AAG - TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr20:11899098_11899100delAAG ENST00000405977.1 + 2 800_802 c.175_177delAAG c.(175-177)del p.K61del BTBD3_ENST00000399006.2_5'UTR|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000378226.2_In_Frame_Del_p.K61del|RP4-742J24.2_ENST00000439529.1_RNA Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 61 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GAAGACTAAAAAGAAGAAGATGG 0.453 51 178 --- --- --- ---