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 PSME4 23198 broad.mit.edu 37 2 54124014 54124014 + Silent SNP G G T TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr2:54124014G>T ENST00000404125.1 - 32 3670 c.3615C>A c.(3613-3615)atC>atA p.I1205I PSME4_ENST00000421748.2_Silent_p.I349I NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1205 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CAACAGCTGAGATAGCCATCT 0.353000 33 66 4.3181e-19 4.60597e-19 1 1 0 ZNF341 84905 broad.mit.edu 37 20 32336747 32336747 + Missense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr20:32336747G>A ENST00000375200.1 + 4 723 c.358G>A c.(358-360)Gtg>Atg p.V120M ZNF341_ENST00000342427.2_Missense_Mutation_p.V120M Q9BYN7 ZN341_HUMAN zinc finger protein 341 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 ATACATCACAGTGCCCCCGTC 0.552000 10 22 0 0 1 0 0 TANK 10010 broad.mit.edu 37 2 162061273 162061273 + Missense_Mutation SNP T T C TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr2:162061273T>C ENST00000392749.2 + 4 535 c.296T>C c.(295-297)aTt>aCt p.I99T TANK_ENST00000457476.1_Missense_Mutation_p.I99T|TANK_ENST00000259075.2_Missense_Mutation_p.I99T|TANK_ENST00000406287.1_Missense_Mutation_p.I157T|TANK_ENST00000405852.1_Missense_Mutation_p.I99T|TANK_ENST00000402568.1_Missense_Mutation_p.I158T|TANK_ENST00000403609.1_Missense_Mutation_p.I99T NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 99 cytosol metal ion binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 GATAAAGTGATTTCAGGAATA 0.363000 15 30 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103904019 103904019 + Missense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr10:103904019G>A ENST00000278070.2 + 7 3602 c.3563G>A c.(3562-3564)tGt>tAt p.C1188Y PPRC1_ENST00000370012.1_Missense_Mutation_p.C155Y|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.C1188Y NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AAAAAGGAGTGTCCTCCTCCG 0.522000 16 29 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78719367 78719367 + Missense_Mutation SNP C C T TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr3:78719367C>T ENST00000436010.2 - 9 2307 c.1310G>A c.(1309-1311)tGt>tAt p.C437Y ROBO1_ENST00000495273.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000464233.1_Missense_Mutation_p.C476Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.C440Y Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 476 Ig-like C2-type 4. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGTGGCCACACAGCTGAGGAC 0.517000 4 7 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4512008 4512008 + Missense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr19:4512008G>A ENST00000301286.3 - 3 1921 c.1922C>T c.(1921-1923)aCg>aTg p.T641M NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 641 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 ATTTTGGGTCGTTTTCAGCCC 0.557000 4 120 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407048 55407048 + Silent SNP C C A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr5:55407048C>A ENST00000341048.4 - 10 1678 c.1527G>T c.(1525-1527)gtG>gtT p.V509V ANKRD55_ENST00000434982.2_Silent_p.V221V|ANKRD55_ENST00000504958.2_Silent_p.V466V NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 508 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) CAGAAGAAGACACAGTCCAAA 0.453000 33 79 6.02846e-25 6.88966e-25 1 1 0 JAG2 3714 broad.mit.edu 37 14 105634399 105634399 + Missense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr14:105634399G>A ENST00000331782.3 - 2 515 c.112C>T c.(112-114)Cgg>Tgg p.R38W RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.R38W NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 38 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TTCACGTTCCGCAGCGCGCTC 0.726000 9 16 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99912168 99912168 + Translation_Start_Site SNP T T G TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr7:99912168T>G ENST00000437326.2 + 0 1180 SPDYE3_ENST00000332397.6_Missense_Mutation_p.D332E A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 CTGGGGTAGATCCCAGCCCCC 0.572000 17 12 0 0 1 0 0 FAM166A 401565 broad.mit.edu 37 9 140139813 140139813 + Silent SNP C C A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr9:140139813C>A ENST00000344774.4 - 3 522 c.468G>T c.(466-468)ggG>ggT p.G156G FAM166A_ENST00000388932.2_Silent_p.G156G NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 156 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 AGGCCTCTTCCCCGTATACTG 0.657000 12 32 4.3838e-07 4.3838e-07 1 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16823313 16823313 + Nonsense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr11:16823313G>A ENST00000355661.3 - 16 2219 c.2209C>T c.(2209-2211)Cga>Tga p.R737* PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737* Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 737 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GGCTGGTCTCGGTACTGCTCC 0.557000 12 23 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22025622 22025622 + Missense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr12:22025622G>A ENST00000261200.4 - 16 2134 c.2135C>T c.(2134-2136)tCc>tTc p.S712F ABCC9_ENST00000345162.2_Missense_Mutation_p.S676F|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.S712F NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 712 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAGAAGAGAGGACTTCCCACA 0.418000 41 121 0 0 1 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17763944 17763944 + RNA SNP T T A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr21:17763944T>A ENST00000458468.1 + 0 469 NR_027790.1 GAGCTCTTTCTGAGATGAAGA 0.308000 3 51 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 8 187 --- --- --- --- NBEA 26960 broad.mit.edu 37 13 35692572 35692572 + Frame_Shift_Del DEL C C - TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr13:35692572delC ENST00000540320.1 + 16 2738 c.2204delC c.(2203-2205)gcfs p.A735fs NBEA_ENST00000400445.3_Frame_Shift_Del_p.A735fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.A735fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.A735fs Q8NFP9 NBEA_HUMAN neurobeachin 735 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GAACACCCAGCCTCAATGATA 0.333 2 4 --- --- --- --- BAHD1 22893 broad.mit.edu 37 15 40758272 40758272 + Frame_Shift_Del DEL C C - TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr15:40758272delC ENST00000561234.1 + 7 2542 c.2283delC c.(2281-2283)ttfs p.F761fs BAHD1_ENST00000416165.1_Frame_Shift_Del_p.F762fs|BAHD1_ENST00000560846.1_Frame_Shift_Del_p.F759fs|RP11-64K12.8_ENST00000559730.1_RNA Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 762 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) AGCTGGTGTTCCTTTGCCGCC 0.632 24 75 --- --- --- --- SARM1 23098 broad.mit.edu 37 17 26699156 26699156 + Translation_Start_Site DEL G G - TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr17:26699156delG ENST00000457710.3 + 0 474 CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron NM_015077.2 NP_055892.2 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGGGCCAGATGGGGGCGGTGG 0.751 2 4 --- --- --- ---