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 ANGEL1 23357 broad.mit.edu 37 14 77275462 77275462 + Missense_Mutation SNP T T C TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr14:77275462T>C ENST00000251089.2 - 2 701 c.589A>G c.(589-591)Atc>Gtc p.I197V NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 197 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) AAGGGCCAGATGGAAGCCTCT 0.612000 5 23 0 0 1 0 0 CD82 3732 broad.mit.edu 37 11 44640634 44640634 + Silent SNP G G A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr11:44640634G>A ENST00000227155.4 + 10 1010 c.762G>A c.(760-762)cgG>cgA p.R254R CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.R229R NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 254 integral to plasma membrane protein binding large_intestine(1)|ovary(1) 2 GCTTGTGCCGGCACGTCCATT 0.652000 4 38 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 3 25 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 3 21 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73021126 73021126 + Silent SNP C C T rs145219831 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr11:73021126C>T ENST00000263674.3 + 1 1793 c.1443C>T c.(1441-1443)gaC>gaT p.D481D NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 481 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGCGCTCAGACCTTTCAGAGC 0.577000 4 22 0 0 1 0 0 SOCS5 9655 broad.mit.edu 37 2 46986916 46986916 + Missense_Mutation SNP C C A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr2:46986916C>A ENST00000306503.5 + 2 1419 c.1247C>A c.(1246-1248)tCt>tAt p.S416Y SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 416 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TACCTCTTCTCTGTGAGCTTC 0.527000 24 67 1.55469e-16 1.69603e-16 1 1 0 PML 5371 broad.mit.edu 37 15 74336715 74336715 + Missense_Mutation SNP C C G TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr15:74336715C>G ENST00000565898.1 + 8 1955 c.1871C>G c.(1870-1872)cCt>cGt p.P624R PML_ENST00000268058.3_Missense_Mutation_p.P672R P29590 PML_HUMAN promyelocytic leukemia 672 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 ATGCGCCGCCCTATCTTGGCC 0.602000 T """RARA, PAX5""" """APL, ALL""" 23 53 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72094218 72094218 + Missense_Mutation SNP T T C TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr16:72094218T>C ENST00000355906.5 + 7 708 c.650T>C c.(649-651)aTt>aCt p.I217T HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Missense_Mutation_p.I158T|HP_ENST00000565574.1_Missense_Mutation_p.I158T NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 217 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GCGAAAGACATTGCCCCTACT 0.453000 7 39 0 0 1 0 0 ANGEL1 23357 broad.mit.edu 37 14 77275462 77275462 + Missense_Mutation SNP T T C TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr14:77275462T>C ENST00000251089.2 - 2 701 c.589A>G c.(589-591)Atc>Gtc p.I197V NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 197 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) AAGGGCCAGATGGAAGCCTCT 0.612000 5 23 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 76 0 0 1 0 0 CD82 3732 broad.mit.edu 37 11 44640634 44640634 + Silent SNP G G A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr11:44640634G>A ENST00000227155.4 + 10 1010 c.762G>A c.(760-762)cgG>cgA p.R254R CD82_ENST00000342935.3_Silent_p.R229R|CD82_ENST00000530931.1_3'UTR NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 254 integral to plasma membrane protein binding large_intestine(1)|ovary(1) 2 GCTTGTGCCGGCACGTCCATT 0.652000 4 38 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 3 25 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73021126 73021126 + Silent SNP C C T rs145219831 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr11:73021126C>T ENST00000263674.3 + 1 1793 c.1443C>T c.(1441-1443)gaC>gaT p.D481D NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 481 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGCGCTCAGACCTTTCAGAGC 0.577000 4 22 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74336715 74336715 + Missense_Mutation SNP C C G TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr15:74336715C>G ENST00000565898.1 + 8 1955 c.1871C>G c.(1870-1872)cCt>cGt p.P624R PML_ENST00000268058.3_Missense_Mutation_p.P672R P29590 PML_HUMAN promyelocytic leukemia 672 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 ATGCGCCGCCCTATCTTGGCC 0.602000 T """RARA, PAX5""" """APL, ALL""" 23 53 0 0 1 0 0 SOCS5 9655 broad.mit.edu 37 2 46986916 46986916 + Missense_Mutation SNP C C A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr2:46986916C>A ENST00000306503.5 + 2 1419 c.1247C>A c.(1246-1248)tCt>tAt p.S416Y SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 416 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TACCTCTTCTCTGTGAGCTTC 0.527000 24 67 1.55469e-16 1.65186e-16 1 1 0 HP 3240 broad.mit.edu 37 16 72094218 72094218 + Missense_Mutation SNP T T C TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr16:72094218T>C ENST00000355906.5 + 7 708 c.650T>C c.(649-651)aTt>aCt p.I217T HP_ENST00000565574.1_Missense_Mutation_p.I158T|HP_ENST00000398131.2_Missense_Mutation_p.I158T|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HPR_ENST00000356967.5_Intron NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 217 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GCGAAAGACATTGCCCCTACT 0.453000 7 39 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200881013 200881013 + Frame_Shift_Del DEL G G - TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr1:200881013delG ENST00000367342.4 + 9 1847 c.1647delG c.(1645-1647)gafs p.E549fs C1orf106_ENST00000413687.2_Frame_Shift_Del_p.E464fs NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 549 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 ACGAGGAGGAGGGCACTCCCC 0.741 2 4 --- --- --- --- ANK1 286 broad.mit.edu 37 8 41582014 41582014 + Frame_Shift_Del DEL A A - TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr8:41582014delA ENST00000396942.1 - 7 754 c.671delT c.(670-672)tgfs p.L226fs ANK1_ENST00000289734.7_Frame_Shift_Del_p.L226fs|ANK1_ENST00000347528.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000352337.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000379758.2_Frame_Shift_Del_p.L226fs|ANK1_ENST00000265709.8_Frame_Shift_Del_p.L259fs|ANK1_ENST00000396945.1_Frame_Shift_Del_p.L226fs P16157 ANK1_HUMAN ankyrin 1, erythrocytic 226 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTTGAGGAGCAACTGGGCCAC 0.587 2 4 --- --- --- --- MAP2K1 5604 broad.mit.edu 37 15 66727443 66727457 + In_Frame_Del DEL TCTTACCCAGAAGCA TCTTACCCAGAAGCA - TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr15:66727443_66727457delTCTTACCCAGAAGCA ENST00000307102.5 + 2 690_704 c.159_173delTCTTACCCAGAAGCA c.(157-174)ttg>tt p.FLTQKQ53del NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 53 F -> S (in CFC syndrome). activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K57N(3)|p.K57T(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 TTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGA 0.553 15 96 --- --- --- --- CCDC105 126402 broad.mit.edu 37 19 15121690 15121691 + Frame_Shift_Del DEL CC CC - TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr19:15121690_15121691delCC ENST00000292574.3 + 1 135_136 c.53_54delCC c.(52-54)gfs p.A18fs NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 18 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CGCGTTGGGGCCCCAGCATGGC 0.698 6 4 --- --- --- --- NCR2 9436 broad.mit.edu 37 6 41303645 41303647 + In_Frame_Del DEL CTG CTG - TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr6:41303645_41303647delCTG ENST00000373083.4 + 1 253_255 c.31_33delCTG c.(31-33)del p.L15del NCR2_ENST00000373086.3_In_Frame_Del_p.L15del|NCR2_ENST00000373089.5_In_Frame_Del_p.L15del NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 15 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) CCCACTGCTACTGCTGCTGCTGC 0.635 2 4 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC rs112463195 by1000genomes TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr7:1586653_1586654insGCC ENST00000297477.5 - 9 1492_1493 c.1176_1177insGGC c.(1174-1179)ggccgg>ggGGCccgg p.392_393GR>GAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 392 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTCCCGCCGGAGCCGCCGCTGG 0.708 6 13 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 2 4 --- --- --- --- FAM74A3 728495 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 3 5 --- --- --- --- MAP2K1 5604 broad.mit.edu 37 15 66727443 66727457 + In_Frame_Del DEL TCTTACCCAGAAGCA TCTTACCCAGAAGCA - TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr15:66727443_66727457delTCTTACCCAGAAGCA ENST00000307102.5 + 2 690_704 c.159_173delTCTTACCCAGAAGCA c.(157-174)ttg>tt p.FLTQKQ53del NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 53 F -> S (in CFC syndrome). activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K57N(3)|p.K57T(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 TTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGA 0.553 15 96 --- --- --- ---