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 ATP1A4 480 broad.mit.edu 37 1 160141222 160141222 + Missense_Mutation SNP G G A TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr1:160141222G>A ENST00000368081.4 + 11 2144 c.1673G>A c.(1672-1674)cGt>cAt p.R558H ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 558 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.R558H(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGGGGGAACGTGTGCTAGGT 0.443000 12 20 0 0 1 0 0 AVL9 23080 broad.mit.edu 37 7 32582854 32582854 + Silent SNP C C T TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr7:32582854C>T ENST00000318709.4 + 2 416 c.195C>T c.(193-195)ggC>ggT p.G65G AVL9_ENST00000404479.1_Silent_p.G65G|AVL9_ENST00000409301.1_Silent_p.G65G NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 65 integral to membrane p.G65G(2) endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TACCAGATGGCGCACACAACT 0.423000 5 82 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 3 54 0.00024832 0.00024832 1 1 0 HDLBP 3069 broad.mit.edu 37 2 242187753 242187753 + Missense_Mutation SNP C C G TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr2:242187753C>G ENST00000391975.1 - 13 1750 c.1523G>C c.(1522-1524)cGt>cCt p.R508P HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Missense_Mutation_p.R508P|HDLBP_ENST00000310931.4_Missense_Mutation_p.R508P|HDLBP_ENST00000427183.2_Missense_Mutation_p.R475P NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 508 KH 5. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding p.R508H(1) breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ATCCTTGGTACGCTCATTTTC 0.458000 15 29 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 3 84 0 0 1 0 0 SLC20A1 6574 broad.mit.edu 37 2 113405018 113405018 + Missense_Mutation SNP A A G TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr2:113405018A>G ENST00000272542.3 + 3 991 c.452A>G c.(451-453)aAg>aGg p.K151R NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 151 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 GAGGGTGTCAAGTGGTCTGAA 0.433000 52 79 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958222 47958222 + Silent SNP G G A TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr3:47958222G>A ENST00000426837.2 - 8 1233 c.1146C>T c.(1144-1146)gcC>gcT p.A382A MAP4_ENST00000360240.6_Silent_p.A365A|MAP4_ENST00000395734.3_Silent_p.A365A|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 365 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTTGGAAGGGGCTAAGTCCA 0.478000 4 85 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr16:90161618C>T ENST00000564451.1 + 0 971 TUBB8P7_ENST00000567960.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 5 27 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958225 47958225 + Silent SNP T T C TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr3:47958225T>C ENST00000426837.2 - 8 1230 c.1143A>G c.(1141-1143)ttA>ttG p.L381L MAP4_ENST00000360240.6_Silent_p.L364L|MAP4_ENST00000395734.3_Silent_p.L364L|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 364 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.L364L(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGAAGGGGCTAAGTCCATTT 0.478000 4 88 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 4 27 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134357838 134357838 + Silent SNP G G A TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr9:134357838G>A ENST00000357304.4 + 20 5119 c.5064G>A c.(5062-5064)caG>caA p.Q1688Q PRRC2B_ENST00000405995.1_Silent_p.Q994Q|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Silent_p.Q994Q NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1688 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CCTCCTCGCAGCGCAGCTCCC 0.612000 9 87 0 0 1 0 0 NKX6-3 157848 broad.mit.edu 37 8 41504197 41504197 + Frame_Shift_Del DEL C C - TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr8:41504197delC ENST00000524115.2 - 2 182 c.179delG c.(178-180)ccfs p.R61fs NM_152568.2 NP_689781.1 A6NJ46 NKX63_HUMAN NK6 homeobox 3 191 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154) 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) CTTGGTCCTGCGGTTCTGGAA 0.677 2 4 --- --- --- --- RP11-445N18.7 0 broad.mit.edu 37 10 45648292 45648292 + RNA DEL G G - TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr10:45648292delG ENST00000427229.2 + 0 1681 TCAGAGAAATGGAATGGTTGC 0.323 2 4 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409539 22409540 + RNA INS - - T rs2178778 TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr14:22409539_22409540insT ENST00000390441.2 + 0 102 ctctctctctctTTTTTTTTTT 0.426 3 5 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123171406 123171407 + Frame_Shift_Ins INS - - A TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chrX:123171406_123171407insA ENST00000371160.1 + 6 608_609 c.318_319insA c.(316-321)taagcafs p.A107fs STAG2_ENST00000371144.3_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000354548.5_Frame_Shift_Ins_p.A38fs Q8N3U4 STAG2_HUMAN stromal antigen 2 107 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TAGAATCATACAAGCATGACCG 0.327 47 62 --- --- --- ---