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 VCPIP1 80124 broad.mit.edu 37 8 67577499 67577499 + Silent SNP A A G TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr8:67577499A>G ENST00000310421.4 - 1 1953 c.1695T>C c.(1693-1695)tcT>tcC p.S565S NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 565 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) CAGTGGACCTAGAATTAGTTC 0.433000 5 160 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124761327 124761327 + Missense_Mutation SNP G G A TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr11:124761327G>A ENST00000306534.3 - 12 2301 c.1816C>T c.(1816-1818)Cgc>Tgc p.R606C RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 606 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGTGGGAGGCGCCTGACAGCT 0.662000 12 12 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228464238 228464238 + Missense_Mutation SNP C C T TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr1:228464238C>T ENST00000570156.2 + 26 7507 c.7433C>T c.(7432-7434)gCg>gTg p.A2478V OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2103V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A950V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2103V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1469 Ig-like 24. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGTCGCATGCGGACGTGGAT 0.692000 3 43 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91623993 91623993 + Missense_Mutation SNP C C A TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr7:91623993C>A ENST00000359028.2 + 7 896 c.671C>A c.(670-672)gCt>gAt p.A224D AKAP9_ENST00000356239.3_Missense_Mutation_p.A212D|AKAP9_ENST00000394564.1_Missense_Mutation_p.A212D|AKAP9_ENST00000358100.2_Missense_Mutation_p.A224D Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 224 Gln-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGCTCACTGCTAATTTACAA 0.313000 T BRAF papillary thyroid 3 44 0.004672 0.00503138 1 1 0 JAK2 3717 broad.mit.edu 37 9 5069080 5069080 + Missense_Mutation SNP A A C TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr9:5069080A>C ENST00000381652.3 + 11 1879 c.1385A>C c.(1384-1386)tAc>tCc p.Y462S JAK2_ENST00000544510.1_Missense_Mutation_p.Y313S|JAK2_ENST00000539801.1_Missense_Mutation_p.Y462S NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 462 SH2; atypical. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) AATGAAGAGTACAACCTCAGT 0.328000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 19 34 0 0 1 0 0 C16orf70 80262 broad.mit.edu 37 16 67168285 67168285 + Silent SNP C C T TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr16:67168285C>T ENST00000219139.3 + 8 764 c.576C>T c.(574-576)ttC>ttT p.F192F C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.F192F NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 192 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) TGAGCTGTTTCCTGGGCAATG 0.532000 5 270 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 84 0 0 1 0 0 NIFK-AS1 254128 broad.mit.edu 37 2 122466739 122466740 + RNA INS - - T rs6733674 by1000genomes TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr2:122466739_122466740insT ENST00000419902.1 + 0 637 NR_037857.1 tttttttgttgttttttttttg 0.460 4 6 --- --- --- --- LOC101927237 101927237 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 2 4 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 3 6 --- --- --- --- RP11-271K11.5 0 broad.mit.edu 37 17 29369492 29369493 + RNA DEL CA CA - TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr17:29369492_29369493delCA ENST00000583112.1 - 0 628 p.?(1) cacaggcaagcacacacacaca 0.510 2 4 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 4 --- --- --- ---