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 RABGGTA 5875 broad.mit.edu 37 14 24738839 24738839 + Missense_Mutation SNP C C A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr14:24738839C>A ENST00000399409.3 - 5 972 c.489G>T c.(487-489)gaG>gaT p.E163D RABGGTA_ENST00000216840.6_Missense_Mutation_p.E163D|RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000559586.1_5'UTR NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 163 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) TGAAGGCTAGCTCTTCTGCAG 0.592000 3 52 1 1 1 1 0 SPTB 6710 broad.mit.edu 37 14 65260383 65260383 + Silent SNP G G C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr14:65260383G>C ENST00000389722.3 - 13 2051 c.1998C>G c.(1996-1998)ggC>ggG p.G666G SPTB_ENST00000389720.3_Silent_p.G666G|SPTB_ENST00000389721.5_Silent_p.G666G|SPTB_ENST00000556626.1_Silent_p.G666G|SPTB_ENST00000542895.1_Silent_p.G666G NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 666 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCAGGTCTTTGCCATAGTCCA 0.537000 3 41 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81224299 81224299 + Silent SNP C C T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr15:81224299C>T ENST00000394685.3 + 22 3131 c.2712C>T c.(2710-2712)agC>agT p.S904S KIAA1199_ENST00000356249.5_Silent_p.S904S|KIAA1199_ENST00000220244.3_Silent_p.S904S|RP11-351M8.2_ENST00000560873.1_RNA Q8WUJ3 K1199_HUMAN KIAA1199 904 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGCACACCAGCGCCCTGGCCT 0.557000 14 95 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496770 20496770 + RNA SNP T T C rs3865047 by1000genomes TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr15:20496770T>C ENST00000555186.1 + 0 823 NR_038836.1 TTATAGTGTGTATTTTAATTA 0.353000 6 51 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230914848 230914848 + Silent SNP C C G TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr1:230914848C>G ENST00000354537.1 + 8 1087 c.1005C>G c.(1003-1005)ggC>ggG p.G335G RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.G298G|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000271971.2_Silent_p.G361G|RP11-99J16__A.2_ENST00000452640.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 361 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GGGTTCGCGGCTCCACGGCTG 0.582000 5 24 0 0 1 0 0 FTO 79068 broad.mit.edu 37 16 53859931 53859931 + Silent SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr16:53859931G>A ENST00000471389.1 + 3 501 c.279G>A c.(277-279)ccG>ccA p.P93P FTO_ENST00000394647.3_Intron NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 93 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 TGCTCACTCCGGTATCTCGCA 0.493000 5 41 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73760452 73760452 + Missense_Mutation SNP G G C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr11:73760452G>C ENST00000334126.7 - 27 5517 c.5291C>G c.(5290-5292)cCt>cGt p.P1764R C2CD3_ENST00000313663.7_Missense_Mutation_p.P1764R Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1764 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) ACTCTCCAAAGGGGAGACAGC 0.483000 4 36 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52130952 52130952 + Silent SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr19:52130952G>A ENST00000222107.4 - 6 1183 c.1045C>T c.(1045-1047)Ctg>Ttg p.L349L SIGLEC5_ENST00000534261.2_Silent_p.L349L|SIGLEC5_ENST00000570106.2_Silent_p.L349L|SIGLEC5_ENST00000429354.3_Silent_p.L349L|SIGLEC5_ENST00000599649.1_Silent_p.L349L O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 349 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTGCAGTGCAGACCCTCAGCC 0.647000 4 7 0 0 1 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105433512 105433512 + Missense_Mutation SNP A A G TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr12:105433512A>G ENST00000258494.9 - 17 2164 c.2024T>C c.(2023-2025)aTt>aCt p.I675T C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 675 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 CTGTTTGCCAATAGGAGTGGA 0.393000 7 33 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 122 0 0 1 0 0 EPHX1 2052 broad.mit.edu 37 1 226026489 226026489 + Missense_Mutation SNP C C G TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr1:226026489C>G ENST00000366837.4 + 4 695 c.499C>G c.(499-501)Ccc>Gcc p.P167A EPHX1_ENST00000272167.5_Missense_Mutation_p.P167A NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 167 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CCTGACTGACCCCAAGAACCA 0.572000 6 92 0 0 1 0 0 RASSF1 11186 broad.mit.edu 37 3 50369084 50369084 + Silent SNP T T A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr3:50369084T>A ENST00000359365.4 - 4 772 c.666A>T c.(664-666)gcA>gcT p.A222A RASSF1_ENST00000395126.3_Silent_p.A71A|RASSF1_ENST00000357043.2_Silent_p.A226A|RASSF1_ENST00000327761.3_Silent_p.A152A NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 226 Ras-associating. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGACTTCACGTGCCCTTGTGC 0.617000 21 50 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106975253 106975253 + Missense_Mutation SNP G G T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr6:106975253G>T ENST00000369066.3 + 5 3749 c.3262G>T c.(3262-3264)Ggt>Tgt p.G1088C NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1088 Beta/gamma crystallin 'Greek key' 2. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GGAACTCTCTGGTCTCTGGGG 0.428000 8 102 0.000274275 0.000285703 1 1 0 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr11:533875G>T ENST00000417302.1 - 3 368 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61K(61)|p.Q61R(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 20 31 3.8784e-16 4.21566e-16 1 1 0 C2orf73 129852 broad.mit.edu 37 2 54587376 54587376 + Missense_Mutation SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr2:54587376G>A ENST00000398634.2 + 5 583 c.541G>A c.(541-543)Ggc>Agc p.G181S C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Intron NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 181 breast(2) 2 GATAAAACCAGGCAGTAGGCC 0.453000 3 6 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48387610 48387610 + Silent SNP C C T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr12:48387610C>T ENST00000380518.3 - 14 1070 c.906G>A c.(904-906)gcG>gcA p.A302A COL2A1_ENST00000337299.6_Silent_p.A233A NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 302 Triple-helical region. Missing (in STL1). axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CAGGAGCACCCGCCTCTCCCT 0.542000 6 51 0 0 1 0 0 COPS5 10987 broad.mit.edu 37 8 67971510 67971510 + Missense_Mutation SNP G G C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr8:67971510G>C ENST00000517736.1 - 2 683 c.122C>G c.(121-123)aCc>aGc p.T41S COPS5_ENST00000357849.4_Missense_Mutation_p.T105S Q92905 CSN5_HUMAN COP9 signalosome subunit 5 105 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity p.T105I(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3) 14 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) ATTTACTCGGGTTTCAGTGCC 0.418000 4 76 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 3 32 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101798452 101798452 + Splice_Site SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr9:101798452G>A ENST00000375001.3 + 20 2713 c.2289_splice c.e20-1 p.G764_splice NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 764 Triple-helical region 3 (COL3). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) ATTTTTCCAGGGTCTCAAAGG 0.483000 3 26 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 12022421 12022421 + Missense_Mutation SNP T T C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr12:12022421T>C ENST00000396373.4 + 5 801 c.527T>C c.(526-528)aTt>aCt p.I176T NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 176 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCTCCCACCATTGAACTGTTG 0.582000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 8 157 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 4 83 0 0 1 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 3 5 --- --- --- --- NRM 11270 broad.mit.edu 37 6 30657192 30657192 + Frame_Shift_Del DEL G G - TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr6:30657192delG ENST00000259953.4 - 4 719 c.368delC c.(367-369)ctfs p.P123fs NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376420.5_Intron|NRM_ENST00000376421.5_Frame_Shift_Del_p.P123fs NM_001270707.1 NP_001257636.1 Q8IXM6 NRM_HUMAN nurim (nuclear envelope membrane protein) 123 integral to membrane|nuclear inner membrane large_intestine(1)|lung(2) 3 CCACAACACAGGGCCTTTGGG 0.607 2 4 --- --- --- --- FJX1 24147 broad.mit.edu 37 11 35640205 35640207 + In_Frame_Del DEL CGC CGC - TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr11:35640205_35640207delCGC ENST00000317811.4 + 1 471_473 c.21_23delCGC c.(19-24)ggc>gg p.GA7del NM_014344.3 NP_055159.2 Q86VR8 FJX1_HUMAN four jointed box 1 (Drosophila) 7 extracellular space lung(1)|urinary_tract(1) 2 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) GGATGCGGGGCGCCGCCGCCACC 0.818 2 4 --- --- --- --- RBL2 5934 broad.mit.edu 37 16 53476671 53476671 + Frame_Shift_Del DEL T T - TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr16:53476671delT ENST00000262133.6 + 3 610 c.473delT c.(472-474)gtfs p.V158fs NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 158 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AACTTCACTGTTTCTGCTGTA 0.388 18 28 --- --- --- ---