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 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 6 9 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52406913 52406913 + Splice_Site SNP C C T TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr3:52406913C>T ENST00000420323.2 + 44 7090 c.6827_splice c.e44-1 p.R2277_splice NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2277 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCCCCTCAGGCGGAAGGGTGT 0.617000 21 57 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890333 55890333 + Missense_Mutation SNP C C T TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr11:55890333C>T ENST00000313472.3 + 1 485 c.485C>T c.(484-486)tCc>tTc p.S162F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S162Y(1)|p.S162F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AATGTGGTTTCCATGAGCAGA 0.438000 41 100 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112578648 112578648 + Missense_Mutation SNP C C T TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr12:112578648C>T ENST00000257604.5 + 5 880 c.263C>T c.(262-264)gCt>gTt p.A88V TRAFD1_ENST00000412615.2_Missense_Mutation_p.A88V NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 88 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 TTGCGGCTTGCTGTCTGCCAG 0.468000 4 83 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151945602 151945602 + Silent SNP G G A TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr7:151945602G>A ENST00000355193.2 - 14 2135 c.1917C>T c.(1915-1917)ggC>ggT p.G639G KMT2C_ENST00000262189.6_Silent_p.G639G lysine (K)-specific methyltransferase 2C TTTGATCTTCGCCACAAATAT 0.373000 4 68 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37622620 37622620 + Missense_Mutation SNP C C T TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr6:37622620C>T ENST00000434837.2 - 5 1846 c.668G>A c.(667-669)gGc>gAc p.G223D MDGA1_ENST00000505425.1_Missense_Mutation_p.G223D|MDGA1_ENST00000297153.7_Missense_Mutation_p.G223D NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 223 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane p.G223D(1) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GTCTGGGATGCCGCACACGTT 0.597000 4 120 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13910449 13910449 + Missense_Mutation SNP G G C TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr1:13910449G>C ENST00000294489.6 + 1 490 c.149G>C c.(148-150)tGg>tCg p.W50S PDPN_ENST00000376057.4_Missense_Mutation_p.W50S Q86YL7 PDPN_HUMAN podoplanin 0 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CTGGGCCTGTGGCCGCGGTGC 0.657000 7 11 0 0 1 0 0 RGS14 10636 broad.mit.edu 37 5 176798390 176798390 + Missense_Mutation SNP G G A TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr5:176798390G>A ENST00000408923.3 + 13 1564 c.1376G>A c.(1375-1377)cGc>cAc p.R459H RGS14_ENST00000506944.1_3'UTR NM_006480.4 NP_006471.2 O43566 RGS14_HUMAN regulator of G-protein signaling 14 459 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCCCTGCCGCAGCCAGGTG 0.607000 4 64 0 0 1 0 0 KIF20A 10112 broad.mit.edu 37 5 137518596 137518596 + Missense_Mutation SNP G G A TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr5:137518596G>A ENST00000394894.3 + 7 975 c.749G>A c.(748-750)cGg>cAg p.R250Q KIF20A_ENST00000508792.1_Missense_Mutation_p.R232Q NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 250 Kinesin-motor. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATCGAAAGTCGGATAGGTACC 0.537000 3 38 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110036319 110036319 + Silent SNP A A G TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr6:110036319A>G ENST00000230124.3 + 2 229 c.105A>G c.(103-105)aaA>aaG p.K35K FIG4_ENST00000441478.2_5'UTR NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 35 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CAGAAACGAAATATCGTGTCT 0.323000 24 31 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 48 0 0 1 0 0 TCTEX1D4 343521 broad.mit.edu 37 1 45272252 45272252 + Frame_Shift_Del DEL C C - TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr1:45272252delC ENST00000372200.1 - 2 597 c.89delG c.(88-90)gcfs p.G30fs TCTEX1D4_ENST00000339355.2_Frame_Shift_Del_p.G30fs NM_001013632.2 NP_001013654.1 Q5JR98 TC1D4_HUMAN Tctex1 domain containing 4 30 pancreas(1) 1 Acute lymphoblastic leukemia(166;0.155) GGGCAGGCAGCCTCGGGGCCG 0.731 2 4 --- --- --- --- RP11-739N20.2 0 broad.mit.edu 37 1 204363978 204363979 + RNA INS - - A TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr1:204363978_204363979insA ENST00000443515.1 + 0 146 gatttgtttttcaaaaaaaaaa 0.302 2 4 --- --- --- --- TPBG 7162 broad.mit.edu 37 6 83075102 83075102 + Frame_Shift_Del DEL C C - TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr6:83075102delC ENST00000369750.3 + 2 1041 c.424delC c.(424-426)ccfs p.P142fs TPBG_ENST00000543496.1_Frame_Shift_Del_p.P142fs|TPBG_ENST00000535040.1_Frame_Shift_Del_p.P142fs Q13641 TPBG_HUMAN trophoblast glycoprotein 142 cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) CGAGCATCTGCCCAGCCTGCG 0.736 31 33 --- --- --- --- KCNK7 10089 broad.mit.edu 37 11 65363186 65363186 + Frame_Shift_Del DEL C C - TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr11:65363186delC ENST00000394216.2 - 1 281 c.58delG c.(58-60)ccfs p.A20fs KCNK7_ENST00000394217.2_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000342202.4_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000340313.4_Frame_Shift_Del_p.A20fs NM_005714.1|NM_033455.1 NP_005705.1|NP_258416.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 20 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|liver(1)|lung(1) 3 AGCCCCAGGGCCAGCAAGTGG 0.682 2 4 --- --- --- ---