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 TUBB8P7 197331 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 3 38 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167031891 167031891 + Missense_Mutation SNP C C A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr3:167031891C>A ENST00000392766.2 - 16 1628 c.1288G>T c.(1288-1290)Gat>Tat p.D430Y ZBBX_ENST00000307529.5_Missense_Mutation_p.D430Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D401Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.D430Y NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 430 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTCTGACAATCATGAAAAGCA 0.299000 12 58 0.00136819 0.00145941 1 1 0 GPRASP1 9737 broad.mit.edu 37 X 101911811 101911811 + Silent SNP G G C TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chrX:101911811G>C ENST00000537097.1 + 6 3783 c.2970G>C c.(2968-2970)ggG>ggC p.G990G GPRASP1_ENST00000361600.5_Silent_p.G990G|GPRASP1_ENST00000415986.1_Silent_p.G990G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.G990G NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 990 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GCAACTGTGGGTCCAGGACAT 0.512000 4 64 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 3 51 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763352 140763352 + Missense_Mutation SNP T T C TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr5:140763352T>C ENST00000518325.1 + 1 886 c.886T>C c.(886-888)Tcg>Ccg p.S296P PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCTGAACTCGCTTACAGG 0.418000 7 23 0 0 1 0 0 SYPL1 6856 broad.mit.edu 37 7 105738244 105738244 + Silent SNP T T C TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr7:105738244T>C ENST00000455385.2 - 3 416 c.294A>G c.(292-294)caA>caG p.Q98Q SYPL1_ENST00000470347.1_Silent_p.Q98Q|SYPL1_ENST00000011473.2_Silent_p.Q116Q NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 116 MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 TAACATAGAATTGTGCAGAAG 0.423000 9 48 0 0 1 0 0 ID2 3398 broad.mit.edu 37 2 8822538 8822538 + Silent SNP G G A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr2:8822538G>A ENST00000234091.4 + 3 1103 c.243G>A c.(241-243)tcG>tcA p.S81S ID2_ENST00000331129.3_Silent_p.S81S|ID2_ENST00000396290.1_Silent_p.S81S Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 81 cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding p.S81S(1) breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCCTGGACTCGCATCCCACTA 0.582000 3 54 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32956104 32956104 + Missense_Mutation SNP C C T TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr17:32956104C>T ENST00000321639.5 + 5 1277 c.949C>T c.(949-951)Cgg>Tgg p.R317W NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 317 integral to membrane p.R317W(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GTCAGTCAAGCGGAGGATCAT 0.612000 9 69 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200878465 200878465 + Missense_Mutation SNP G G A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr1:200878465G>A ENST00000367342.4 + 8 1354 c.1154G>A c.(1153-1155)cGc>cAc p.R385H C1orf106_ENST00000413687.2_Missense_Mutation_p.R300H NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 385 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TGGCAGGGCCGCACCAGTGCC 0.642000 3 22 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26428143 26428143 + RNA SNP G G C TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr6:26428143G>C ENST00000466808.2 + 0 1112 GATCCTGCCTGTTATCATGAT 0.428000 3 103 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 4 90 0 0 1 0 0 SPIC 121599 broad.mit.edu 37 12 101880259 101880259 + Missense_Mutation SNP C C A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr12:101880259C>A ENST00000551346.1 + 6 616 c.457C>A c.(457-459)Ctt>Att p.L153I SPIC_ENST00000299272.5_Missense_Mutation_p.L153I Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 153 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 ACTTGCCGAGCTTTGGGGGAA 0.418000 4 43 1 1 1 1 0 ITGBL1 9358 broad.mit.edu 37 13 102359178 102359178 + Missense_Mutation SNP G G A rs149770736 TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr13:102359178G>A ENST00000376180.3 + 9 1424 c.1205G>A c.(1204-1206)cGg>cAg p.R402Q ITGBL1_ENST00000376162.3_Missense_Mutation_p.R309Q|ITGBL1_ENST00000545560.2_Missense_Mutation_p.R261Q NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 402 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAACATCCGCGGAAGTGTAAC 0.517000 4 148 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31110764 31110766 + In_Frame_Del DEL CTG CTG - rs140560656 TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr6:31110764_31110766delCTG ENST00000396268.3 - 17 2653_2655 c.2465_2467delCAG c.(2464-2469)gtg>g p.AV822del CCHCR1_ENST00000376266.5_In_Frame_Del_p.AV733del|CCHCR1_ENST00000451521.2_In_Frame_Del_p.AV786del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.AV680del NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 733 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 CTGGTGGGCACTGCTGCTGCTAC 0.532 7 382 --- --- --- --- TPTE2P2 644623 broad.mit.edu 37 13 52857402 52857402 + RNA DEL A A - TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr13:52857402delA ENST00000451298.1 - 0 303 RP11-64P12.8_ENST00000606031.1_RNA ACTTAACGTCAAAAAAAATGT 0.289 2 4 --- --- --- --- DOC2A 8448 broad.mit.edu 37 16 30020586 30020586 + Frame_Shift_Del DEL G G - TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr16:30020586delG ENST00000350119.4 - 4 544 c.354delC c.(352-354)ccfs p.P118fs DOC2A_ENST00000564944.1_Frame_Shift_Del_p.P118fs|DOC2A_ENST00000564979.1_Frame_Shift_Del_p.P118fs NM_003586.2 NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 118 C2 1. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 TGAAATCCATGGGCTTGAGGC 0.647 2 4 --- --- --- ---