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 TTLL8 164714 broad.mit.edu 37 22 50472804 50472804 + Missense_Mutation SNP C C T TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr22:50472804C>T ENST00000266182.6 - 9 1008 c.1009G>A c.(1009-1011)Gcc>Acc p.A337T TTLL8_ENST00000440475.1_Missense_Mutation_p.A321T tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CGGGACTTGGCCGCGGGCTTT 0.592000 3 30 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439568 145439568 + Silent SNP C C T rs142262740 by1000genomes TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr5:145439568C>T ENST00000511217.1 + 8 1747 c.1695C>T c.(1693-1695)gcC>gcT p.A565A SH3RF2_ENST00000359120.4_Silent_p.A565A|SH3RF2_ENST00000511705.1_3'UTR Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 565 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCCTCAGCCGTGGTGGTGG 0.672000 4 70 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32015643 32015643 + Missense_Mutation SNP C C T TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr6:32015643C>T ENST00000375244.3 - 30 10393 c.10192G>A c.(10192-10194)Gtg>Atg p.V3398M TNXB_ENST00000375247.2_Missense_Mutation_p.V3396M P22105 TENX_HUMAN tenascin XB 3443 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACCGGCACCACCTGGAGCCGA 0.612000 10 14 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 7 81 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94067104 94067104 + Missense_Mutation SNP C C T TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr14:94067104C>T ENST00000553484.1 + 25 3716 c.3562C>T c.(3562-3564)Cct>Tct p.P1188S UNC79_ENST00000555664.1_Missense_Mutation_p.P1188S|UNC79_ENST00000393151.2_Missense_Mutation_p.P1188S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1011S Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1188 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CAAGGAATTTCCTTTTCCTAC 0.403000 7 15 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 66 107 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89345698 89345698 + Missense_Mutation SNP T T C TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr16:89345698T>C ENST00000301030.4 - 9 7712 c.7252A>G c.(7252-7254)Atc>Gtc p.I2418V ANKRD11_ENST00000378330.2_Missense_Mutation_p.I2418V NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2418 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCGTCCACGATGGCGGCCAGC 0.617000 7 17 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 5 93 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6653563 6653563 + Silent SNP T T G TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr11:6653563T>G ENST00000299441.3 - 6 3591 c.3180A>C c.(3178-3180)ctA>ctC p.L1060L RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1060 Cadherin 10. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCACGGTCTAGTGCTGCCC 0.592000 18 29 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274364 39274364 + Missense_Mutation SNP T T G rs425784 by1000genomes TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr17:39274364T>G ENST00000391413.2 - 1 242 c.204A>C c.(202-204)agA>agC p.R68S NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 68 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGATGCAGCATCTGGGGCGGC 0.667000 8 64 0 0 1 0 0 PKN2 5586 broad.mit.edu 37 1 89273120 89273120 + Missense_Mutation SNP A A G TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr1:89273120A>G ENST00000370521.3 + 13 2287 c.1928A>G c.(1927-1929)gAc>gGc p.D643G PKN2_ENST00000370513.5_Missense_Mutation_p.D595G|PKN2_ENST00000544045.1_Missense_Mutation_p.D317G|PKN2_ENST00000370505.3_Missense_Mutation_p.D486G NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 643 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GAACTTGAGGACAGAAGGTAA 0.333000 5 89 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098827 11098827 + RNA SNP C C T rs79274499 by1000genomes TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr21:11098827C>T ENST00000470054.1 - 0 98 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccatccagagcgagacgagcc 0.637000 12 32 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185834992 185834992 + Silent SNP T T C TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr1:185834992T>C ENST00000271588.4 + 4 847 c.618T>C c.(616-618)aaT>aaC p.N206N HMCN1_ENST00000367492.2_Silent_p.N206N NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 206 VWFA. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AACAAGTTAATGAGGTCAGTT 0.353000 10 19 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34241438 34241438 + Missense_Mutation SNP G G A TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr20:34241438G>A ENST00000374114.3 - 3 2070 c.1807C>T c.(1807-1809)Cgc>Tgc p.R603C CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R603C|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.R603C|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 603 nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CGGTGTAAGCGTTCAGACTTA 0.398000 54 95 0 0 1 0 0 PAPSS1 9061 broad.mit.edu 37 4 108641276 108641280 + Splice_Site DEL CCAGT CCAGT - TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr4:108641276_108641280delCCAGT ENST00000265174.4 - 1 328_332 c.60_splice c.e1+1 p.NW19_splice PAPSS1_ENST00000511304.1_5'UTR NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 19 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) CCCAGCTTACCCAGTTCTGCGCGTT 0.673 12 36 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 5 8 --- --- --- ---