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 LSAMP 4045 broad.mit.edu 37 3 115561414 115561414 + Missense_Mutation SNP T T C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr3:115561414T>C ENST00000490035.1 - 5 1160 c.661A>G c.(661-663)Atc>Gtc p.I221V LSAMP_ENST00000539563.1_Missense_Mutation_p.I218V|LSAMP_ENST00000498645.1_5'UTR NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 221 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GATTCTGTGATAGTGGGAGGA 0.493000 13 19 0 0 0.00010058 0 0 FABP4 2167 broad.mit.edu 37 8 82392802 82392802 + Silent SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr8:82392802G>C ENST00000256104.4 - 2 200 c.105C>G c.(103-105)ggC>ggG p.G35G FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA NM_001442.2 NP_001433.1 P15090 FABP4_HUMAN fatty acid binding protein 4, adipocyte 35 triglyceride catabolic process cytoplasm|nucleus|soluble fraction fatty acid binding|protein binding|transporter activity breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1) 6 Epithelial(68;0.213) GTTTGGCCATGCCAGCCACTT 0.413000 5 23 0 0 8.12818e-05 0 0 PLXDC2 84898 broad.mit.edu 37 10 20500614 20500614 + Missense_Mutation SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr10:20500614G>C ENST00000377252.3 + 10 1919 c.1078G>C c.(1078-1080)Gat>Cat p.D360H PLXDC2_ENST00000377242.3_Missense_Mutation_p.D311H|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 360 PSI. integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 CAGTGGATTTGATCGTCATCG 0.443000 4 6 0 0 0.000157383 0 0 BTBD7 55727 broad.mit.edu 37 14 93723588 93723588 + Missense_Mutation SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:93723588G>C ENST00000334746.5 - 6 1868 c.1561C>G c.(1561-1563)Cga>Gga p.R521G BTBD7_ENST00000554565.1_Missense_Mutation_p.R170G|BTBD7_ENST00000393170.2_Missense_Mutation_p.R95G NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 521 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TGTTCAATTCGCACAAAAGGT 0.408000 55 75 0 0 0.000147903 0 0 ABHD4 63874 broad.mit.edu 37 14 23075421 23075421 + Missense_Mutation SNP G G A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:23075421G>A ENST00000428304.2 + 5 804 c.734G>A c.(733-735)tGc>tAc p.C245Y ABHD4_ENST00000544562.1_3'UTR NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 245 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) ATTTACCACTGCAACGCACAG 0.522000 13 10 0 0 0.00010058 0 0 RANGAP1 5905 broad.mit.edu 37 22 41650321 41650321 + Silent SNP A A G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr22:41650321A>G ENST00000455915.2 - 10 2720 c.1251T>C c.(1249-1251)ccT>ccC p.P417P RANGAP1_ENST00000407260.4_Silent_p.P362P|RANGAP1_ENST00000405486.1_Silent_p.P417P|RANGAP1_ENST00000356244.3_Silent_p.P417P P46060 RAGP1_HUMAN Ran GTPase activating protein 1 417 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCCCAGTGTTAGGGTCCAGAA 0.562000 4 143 0 0 0.00024832 0 0 TECPR2 9895 broad.mit.edu 37 14 102873742 102873742 + Missense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:102873742C>T ENST00000359520.7 + 3 513 c.287C>T c.(286-288)aCa>aTa p.T96I TECPR2_ENST00000558678.1_Missense_Mutation_p.T96I|TECPR2_ENST00000561228.1_3'UTR NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 96 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GCAGCAGGCACAGCCTCTGGC 0.463000 54 36 0 0 0.000147903 0 0 ZNF618 114991 broad.mit.edu 37 9 116811046 116811046 + Silent SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr9:116811046C>T ENST00000288466.7 + 14 1284 c.1185C>T c.(1183-1185)agC>agT p.S395S ZNF618_ENST00000374126.5_Silent_p.S488S|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GCGTGGTCAGCGGGAAGGAGT 0.582000 33 67 0 0 0.000339439 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 5 114 0 0 0.000219431 0 0 NPEPPS 9520 broad.mit.edu 37 17 45608849 45608849 + Missense_Mutation SNP C C G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr17:45608849C>G ENST00000322157.4 + 1 420 c.183C>G c.(181-183)atC>atG p.I61M NPEPPS_ENST00000544660.1_Missense_Mutation_p.I17M|NPEPPS_ENST00000530173.1_Missense_Mutation_p.I57M|NPEPPS_ENST00000525037.1_Intron NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 61 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TCTCCCCCATCAACTACAGCC 0.687000 7 8 0 0 0.000157383 0 0 IL17REL 400935 broad.mit.edu 37 22 50436654 50436654 + Missense_Mutation SNP A A G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr22:50436654A>G ENST00000389983.2 - 10 950 c.686T>C c.(685-687)gTg>gCg p.V229A IL17REL_ENST00000341280.5_Missense_Mutation_p.V229A NM_001001694.2 NP_001001694.2 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 229 endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ATGGCCACTCACAGGGCAGGC 0.677000 3 78 0 0 0.00024832 0 0 RIC3 79608 broad.mit.edu 37 11 8190434 8190434 + Missense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr11:8190434C>T ENST00000335425.7 - 1 156 c.103G>A c.(103-105)Gag>Aag p.E35K RIC3_ENST00000539720.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.E35K|RIC3_ENST00000425599.2_Missense_Mutation_p.E35K|RIC3_ENST00000419822.2_Missense_Mutation_p.E35K|RIC3_ENST00000343202.4_Missense_Mutation_p.E35K NM_001135109.2 NP_001128581.1 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 35 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) GGCGGCGGCTCCTGCCGCTTC 0.657000 6 7 0 0 6.40141e-05 0 0 TNFAIP8L2 79626 broad.mit.edu 37 1 151131411 151131411 + Missense_Mutation SNP G G T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr1:151131411G>T ENST00000368910.3 + 2 364 c.238G>T c.(238-240)Ggc>Tgc p.G80C NM_024575.4 NP_078851.2 Q6P589 TP8L2_HUMAN tumor necrosis factor, alpha-induced protein 8-like 2 80 innate immune response lung(1)|skin(2) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGCTCCTTTGGCCCCAGTGA 0.622000 7 60 7.48243e-07 6.18779e-05 0.000442599 1 0 GPR142 350383 broad.mit.edu 37 17 72368512 72368512 + Missense_Mutation SNP C C T rs143741049 by1000genomes TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr17:72368512C>T ENST00000335666.4 + 4 1210 c.1162C>T c.(1162-1164)Cgg>Tgg p.R388W NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 388 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CCCTGTCCACCGGGACTGGAG 0.607000 5 175 0 0 1.23904e-05 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149845 45149845 + Silent SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr13:45149845G>C ENST00000458659.2 - 1 856 c.366C>G c.(364-366)tcC>tcG p.S122S TSC22D1_ENST00000501704.2_Silent_p.S122S NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 122 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity p.S122S(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGATACTAGCGGAGATCTGAG 0.493000 127 151 0 0 0.000147903 0 0 DAAM1 23002 broad.mit.edu 37 14 59789679 59789679 + Silent SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:59789679C>T ENST00000395125.1 + 5 533 c.510C>T c.(508-510)taC>taT p.Y170Y DAAM1_ENST00000351081.1_Silent_p.Y170Y|DAAM1_ENST00000360909.3_Silent_p.Y170Y NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 170 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CCATGGACTACGAGACCTCAG 0.448000 58 67 0 0 0.000147903 0 0 STON2 85439 broad.mit.edu 37 14 81744032 81744032 + Silent SNP G G A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:81744032G>A ENST00000555447.1 - 6 2035 c.1623C>T c.(1621-1623)ttC>ttT p.F541F STON2_ENST00000267540.2_Silent_p.F541F NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 541 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CTGCATGGATGAAACTCAGGA 0.498000 50 66 0 0 0.000147903 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737969 62737969 + Missense_Mutation SNP C C A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr20:62737969C>A ENST00000369768.1 - 1 555 c.216G>T c.(214-216)agG>agT p.R72S NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 72 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) TCTTGGGCGCCCTTAGGATTA 0.617000 33 25 4.31634e-10 3.6545e-08 0.000409698 1 0 NCOR1 9611 broad.mit.edu 37 17 15983374 15983374 + Silent SNP G G A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr17:15983374G>A ENST00000268712.3 - 26 3662 c.3405C>T c.(3403-3405)acC>acT p.T1135T NCOR1_ENST00000395851.1_Silent_p.T1151T NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1135 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGGCTCCTGCGGTACCTGAAT 0.463000 28 29 0 0 0.000227799 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 215 0 0 0.00024832 0 0 ALPK2 115701 broad.mit.edu 37 18 56204584 56204584 + Silent SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr18:56204584G>C ENST00000361673.3 - 5 3048 c.2835C>G c.(2833-2835)ctC>ctG p.L945L RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 945 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CAGAAGAAAGGAGCTGTGTTT 0.532000 15 11 0 0 0.000219431 0 0 NUP93 9688 broad.mit.edu 37 16 56782202 56782202 + Nonsense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr16:56782202C>T ENST00000569842.1 + 2 139 c.43C>T c.(43-45)Cag>Tag p.Q15* NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15* Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 15 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.Q15*(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GCAAGCTGAACAGCTTGCTGC 0.517000 31 74 0 0 0.000339439 0 0 RIMS2 9699 broad.mit.edu 37 8 105261014 105261014 + Missense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr8:105261014C>T ENST00000507740.1 + 19 3240 c.3004C>T c.(3004-3006)Cgc>Tgc p.R1002C RIMS2_ENST00000262231.10_Missense_Mutation_p.R1027C|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1188C|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1206C|RIMS2_ENST00000339750.2_Missense_Mutation_p.R124C NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1250 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GCTAGTGGGACGCCAGACTCT 0.428000 HNSCC(12;0.0054) 17 30 0 0 0.000132079 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 7 36 0 0 0.000157383 0 0 CELF5 60680 broad.mit.edu 37 19 3282183 3282183 + Silent SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr19:3282183G>C ENST00000541430.2 + 7 846 c.810G>C c.(808-810)gtG>gtC p.V270V CELF5_ENST00000292672.2_Silent_p.V270V NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 270 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 GTCCCGGCGTGGCCTTCTCAC 0.622000 64 118 0 0 0.000147903 0 0 TMEM66 51669 broad.mit.edu 37 8 29927254 29927254 + Missense_Mutation SNP G G T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr8:29927254G>T ENST00000256255.6 - 3 861 c.604C>A c.(604-606)Cca>Aca p.P202T TMEM66_ENST00000536273.1_Missense_Mutation_p.P30T|TMEM66_ENST00000545648.1_Missense_Mutation_p.P30T NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 202 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) GAGTACGGTGGAGGAGAATAC 0.488000 32 83 3.90053e-15 3.38299e-13 0.000409698 1 0 FCGRT 2217 broad.mit.edu 37 19 50017181 50017181 + Nonsense_Mutation SNP C C A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr19:50017181C>A ENST00000221466.5 + 3 602 c.116C>A c.(115-117)tCg>tAg p.S39* FCGRT_ENST00000596975.1_Nonsense_Mutation_p.S39*|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Nonsense_Mutation_p.S39*|FCGRT_ENST00000594823.1_3'UTR NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 39 Alpha-1. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) GCGGTGTCCTCGCCTGCCCCG 0.657000 6 231 3.59834e-05 0.00290811 3.59834e-05 1 0 FREM1 158326 broad.mit.edu 37 9 14759843 14759843 + Missense_Mutation SNP T T C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr9:14759843T>C ENST00000380881.4 - 29 6079 c.5264A>G c.(5263-5265)gAg>gGg p.E1755G FREM1_ENST00000422223.2_Missense_Mutation_p.E1754G|FREM1_ENST00000380880.3_Missense_Mutation_p.E1754G|FREM1_ENST00000380894.1_Missense_Mutation_p.E290G|FREM1_ENST00000486223.1_5'UTR Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1754 Calx-beta. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ACCCACATTCTCACAGACTTC 0.388000 20 29 0 0 0.000132079 0 0 CCL13 6357 broad.mit.edu 37 17 32683581 32683581 + Silent SNP C C G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr17:32683581C>G ENST00000225844.2 + 1 111 c.36C>G c.(34-36)ctC>ctG p.L12L NM_005408.2 NP_005399.1 Q99616 CCL13_HUMAN chemokine (C-C motif) ligand 13 12 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response extracellular space chemokine activity|signal transducer activity large_intestine(1)|prostate(1) 2 Ovarian(249;0.0443)|Breast(31;0.151) GCCTGCTGCTCATGACAGCAG 0.502000 22 26 0 0 0.000586117 0 0 ZNF749 388567 broad.mit.edu 37 19 57955885 57955885 + Missense_Mutation SNP C C G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr19:57955885C>G ENST00000334181.4 + 3 1619 c.1369C>G c.(1369-1371)Cag>Gag p.Q457E AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q457E(1)|p.Q370E(1) breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) AGTTCAGCACCAGAAAATCCA 0.423000 3 128 0 0 6.4e-05 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643252 1643252 + Silent SNP A A G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr11:1643252A>G ENST00000399682.1 - 1 116 c.72T>C c.(70-72)tgT>tgC p.C24C NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 24 keratin filament p.C24C(5) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) agccagagccacagcccccac 0.687000 6 40 0 0 0.000157383 0 0 PDCD1 5133 broad.mit.edu 37 2 242794494 242794494 + Missense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr2:242794494C>T ENST00000334409.5 - 3 517 c.448G>A c.(448-450)Gaa>Aaa p.E150K NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 150 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GTGGGCACTTCTGCCCTTCTC 0.677000 9 21 0 0 3.86212e-05 0 0 ACAD10 80724 broad.mit.edu 37 12 112182761 112182761 + Missense_Mutation SNP C C G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr12:112182761C>G ENST00000455480.2 + 14 2299 c.2122C>G c.(2122-2124)Cgt>Ggt p.R708G ACAD10_ENST00000392636.2_Missense_Mutation_p.R279G|ACAD10_ENST00000313698.4_Missense_Mutation_p.R677G|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.R677G NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 677 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CATGGAGCAACGTGTGTACCC 0.582000 57 48 0 0 0.000147903 0 0 AC226119.5 0 broad.mit.edu 37 4 3952901 3952901 + RNA SNP A A T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr4:3952901A>T ENST00000281228.8 - 0 206 FAM86EP_ENST00000313946.8_RNA CACCGGGCATACTTGACTGAC 0.552000 5 64 0 0 1.23904e-05 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 6 79 0 0 8.12818e-05 0 0 NDUFS5 4725 broad.mit.edu 37 1 39494585 39494586 + Frame_Shift_Ins INS - - TA TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr1:39494585_39494586insTA ENST00000372969.3 + 2 276_277 c.189_190insTA c.(187-192)tttagafs p.R64fs NDUFS5_ENST00000372967.3_Frame_Shift_Ins_p.R64fs NM_004552.2 NP_004543.1 O43920 NDUS5_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) 64 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.93e-18) NADH(DB00157) ATGATGATTTCGTAGAGTGTTT 0.396 69 72 --- --- --- --- CIDECP 0 broad.mit.edu 37 3 10059779 10059779 + RNA DEL A A - TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr3:10059779delA ENST00000432401.1 - 0 505 GAGGGCACGCAAGTCAAAACC 0.572 17 12 --- --- --- --- SNX29P2 0 broad.mit.edu 37 16 29294232 29294233 + RNA INS - - CTTTCTTT rs28856588 by1000genomes TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr16:29294232_29294233insCTTTCTTT ENST00000398878.3 + 0 214 ttccttccttcctttctttctt 0.411 2 4 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61388270 61388271 + RNA DEL AC AC - TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr18:61388270_61388271delAC ENST00000544088.1 + 0 836 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GTGCATGTTAACACACACACAC 0.386 3 6 --- --- --- ---