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 HIC2 23119 broad.mit.edu 37 22 21800664 21800664 + Missense_Mutation SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr22:21800664C>T ENST00000443632.2 + 2 1852 c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S HIC2_ENST00000407464.2_Missense_Mutation_p.P494S|HIC2_ENST00000407598.2_Missense_Mutation_p.P494S Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 494 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) CCTGTCAGCACCCAGTGCGGC 0.642000 20 24 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 95 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 3 45 0 0 1 0 0 LIPJ 142910 broad.mit.edu 37 10 90365406 90365406 + Missense_Mutation SNP A A T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr10:90365406A>T ENST00000371939.3 + 10 1126 c.812A>T c.(811-813)cAt>cTt p.H271L NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 271 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) AATTCTACTCATTTGAAAGCT 0.338000 4 80 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196254823 196254823 + Silent SNP C C A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr1:196254823C>A ENST00000367433.5 - 22 2690 c.2589G>T c.(2587-2589)gtG>gtT p.V863V KCNT2_ENST00000367431.4_Silent_p.V813V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.V887V|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 887 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGATGCTAAACACCCTCCCAG 0.353000 4 43 0.150653 0.150653 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 39 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153695647 153695647 + Missense_Mutation SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chrX:153695647C>T ENST00000369682.3 + 19 3449 c.3274C>T c.(3274-3276)Cgg>Tgg p.R1092W NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1092 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCCAGCCTCGGGCGCAAGG 0.617000 33 41 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102339403 102339403 + Missense_Mutation SNP G G A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chrX:102339403G>A ENST00000395065.3 - 3 319 c.218C>T c.(217-219)cCc>cTc p.P73L NXF3_ENST00000425463.2_5'UTR|NXF3_ENST00000425644.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 73 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CCGATTATAGGGTGAAATAGT 0.438000 12 98 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27419847 27419847 + Silent SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr6:27419847C>T ENST00000211936.6 - 6 1775 c.1491G>A c.(1489-1491)acG>acA p.T497T ZNF184_ENST00000377419.1_Silent_p.T497T NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 GCTTTTCTCTCGTGTGAATTC 0.393000 4 66 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3981268 3981268 + Silent SNP G G A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr17:3981268G>A ENST00000381638.2 - 19 3022 c.2898C>T c.(2896-2898)tcC>tcT p.S966S ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 966 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TGCCTTGGACGGACCAGAACA 0.547000 3 45 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954121 30954121 + Missense_Mutation SNP G G A rs137862032 TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr6:30954121G>A ENST00000376296.3 + 2 410 c.169G>A c.(169-171)Gtc>Atc p.V57I MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 57 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CTCCAGTGGGGTCAGCACAGC 0.567000 9 166 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647372 121647372 + Silent SNP T T A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr3:121647372T>A ENST00000489711.1 + 15 1699 c.1311T>A c.(1309-1311)tcT>tcA p.S437S SLC15A2_ENST00000295605.2_Silent_p.S406S|SLC15A2_ENST00000465060.1_3'UTR NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 437 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AAAACAATTCTCTGTTGATAG 0.428000 5 89 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6589585 6589585 + Missense_Mutation SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr17:6589585C>T ENST00000433363.2 - 12 1881 c.1648G>A c.(1648-1650)Gcc>Acc p.A550T SLC13A5_ENST00000381074.4_Missense_Mutation_p.A507T|SLC13A5_ENST00000293800.6_Missense_Mutation_p.A533T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A504T NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 550 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 TCAAATATGGCCCGTCCCCAG 0.473000 3 48 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66479625 66479625 + Missense_Mutation SNP T T A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr5:66479625T>A ENST00000256447.4 - 3 1203 c.1046A>T c.(1045-1047)cAc>cTc p.H349L NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 349 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GATGTAGAGGTGTGTAAGGGA 0.423000 17 144 0 0 1 0 0 FAHD2A 51011 broad.mit.edu 37 2 96072903 96072903 + Missense_Mutation SNP C C A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr2:96072903C>A ENST00000233379.4 + 3 613 c.460C>A c.(460-462)Cag>Aag p.Q154K FAHD2A_ENST00000447036.1_Missense_Mutation_p.Q154K NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 154 hydrolase activity|metal ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 ACCACAGAGCCAGGTCAGTGT 0.582000 4 64 1.23904e-05 1.39392e-05 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 4 28 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179397305 179397305 + Missense_Mutation SNP C C G TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr2:179397305C>G ENST00000589042.1 - 358 104261 c.104037G>C c.(104035-104037)gaG>gaC p.E34679D TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32111D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33038D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25739D|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25806D|TTN_ENST00000460472.2_Missense_Mutation_p.E25614D|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33038 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACGCAGCCTCTCTTCCTCTG 0.458000 5 139 0 0 1 0 0 LACE1 246269 broad.mit.edu 37 6 108840904 108840904 + Missense_Mutation SNP G G A rs141756676 byFrequency TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr6:108840904G>A ENST00000368977.4 + 12 1394 c.1208G>A c.(1207-1209)cGt>cAt p.R403H NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 403 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) TTTCAGGTGCGTATAATTTGC 0.353000 20 52 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 8 381 2.17888e-05 2.35319e-05 1 1 0 CAND2 23066 broad.mit.edu 37 3 12851594 12851594 + Frame_Shift_Del DEL C C - TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr3:12851594delC ENST00000456430.2 + 5 569 c.528delC c.(526-528)ctfs p.L177fs CAND2_ENST00000295989.5_Frame_Shift_Del_p.L84fs|CAND2_ENST00000466558.1_3'UTR NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 177 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 ACGCCAGCCTCCTGCACTGTC 0.751 2 4 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC rs112463195 by1000genomes TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr7:1586653_1586654insGCC ENST00000297477.5 - 9 1492_1493 c.1176_1177insGGC c.(1174-1179)ggccgg>ggGGCccgg p.392_393GR>GAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 392 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTCCCGCCGGAGCCGCCGCTGG 0.708 10 7 --- --- --- --- LOC102723968 102723968 broad.mit.edu 37 13 64407210 64407211 + RNA INS - - TACTGTCAG TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr13:64407210_64407211insTACTGTCAG ENST00000607822.1 - 0 2159 AGACCTTTATATAATTGCCAAA 0.366 9 200 --- --- --- ---